{ "ORPHA:10": "48,XXYY syndrome", "ORPHA:101005": "Autosomal recessive spastic paraplegia type 25/Spastic paraplegia 25, autosomal recessive / Autosomal recessive spastic paraplegia-disc herniation syndrome / SPG25", "OMIM:608220": "SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25", "ORPHA:163966": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type/Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia / X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome", "OMIM:300863": "CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA", "OMIM:214300": "KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2", "OMIM:118100": "KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1", "OMIM:613702": "KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3", "OMIM:182990": "SPINAL INTRADURAL ARACHNOID CYSTS", "OMIM:618141": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67; DEE67", "OMIM:616346": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A; DEE31A", "OMIM:617113": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43; DEE43", "OMIM:608636": "CHROMOSOME 15q11-q13 DUPLICATION SYNDROME", "OMIM:224900": "ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B", "OMIM:612132": "ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2; EDAID2", "ORPHA:163971": "X-linked intellectual disability, Cilliers type / X-linked intellectual disability-microcephaly-testicular failure syndrome", "OMIM:614941": "ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B", "OMIM:613148": "INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28", "OMIM:612567": "INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25", "OMIM:151600": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3", "OMIM:614508": "MIRROR MOVEMENTS 2; MRMV2", "OMIM:616059": "MIRROR MOVEMENTS 3; MRMV3", "OMIM:618264": "MIRROR MOVEMENTS 4; MRMV4", "OMIM:157600": "MIRROR MOVEMENTS 1; MRMV1", "OMIM:251750": "MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA", "ORPHA:163976": "X-linked intellectual disability, Van Esch type", "OMIM:609454": "SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2", "OMIM:615402": "DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3", "OMIM:613080": "46,XY SEX REVERSAL 5; SRXY5", "OMIM:154230": "46,XY SEX REVERSAL 4; SRXY4", "OMIM:300018": "46,XY SEX REVERSAL 2; SRXY2", "OMIM:612965": "46,XY SEX REVERSAL 3; SRXY3", "OMIM:233420": "46,XY SEX REVERSAL 7; SRXY7", "OMIM:616425": "46,XY SEX REVERSAL 10; SRXY10", "ORPHA:163979": "X-linked intellectual disability-craniofacioskeletal syndrome/Craniofacioskeletal syndrome", "OMIM:300712": "CRANIOFACIOSKELETAL SYNDROME", "OMIM:613762": "46,XY SEX REVERSAL 6; SRXY6", "OMIM:618117": "OVARIAN DYSGENESIS 7; ODG7", "OMIM:618078": "OVARIAN DYSGENESIS 6; ODG6", "OMIM:614324": "OVARIAN DYSGENESIS 3; ODG3", "OMIM:300510": "OVARIAN DYSGENESIS 2; ODG2", "OMIM:606763": "CILIARY DYSKINESIA, PRIMARY, 2; CILD2", "OMIM:300991": "CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED; CILD36", "OMIM:616726": "CILIARY DYSKINESIA, PRIMARY, 33; CILD33", "OMIM:612649": "CILIARY DYSKINESIA, PRIMARY, 11; CILD11", "ORPHA:163985": "Hyperekplexia-epilepsy syndrome/Developmental and epileptic encephalopathy 8", "OMIM:300607": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8; DEE8", "OMIM:617577": "CILIARY DYSKINESIA, PRIMARY, 37; CILD37", "OMIM:611884": "CILIARY DYSKINESIA, PRIMARY, 7; CILD7", "OMIM:615451": "CILIARY DYSKINESIA, PRIMARY, 23; CILD23", "OMIM:615872": "CILIARY DYSKINESIA, PRIMARY, 29; CILD29", "OMIM:242670": "CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES", "OMIM:608647": "CILIARY DYSKINESIA, PRIMARY, 5; CILD5", "OMIM:612650": "CILIARY DYSKINESIA, PRIMARY, 12; CILD12", "OMIM:615067": "CILIARY DYSKINESIA, PRIMARY, 20; CILD20", "OMIM:614017": "CILIARY DYSKINESIA, PRIMARY, 16; CILD16", "OMIM:618063": "CILIARY DYSKINESIA, PRIMARY, 38; CILD38", "OMIM:612444": "CILIARY DYSKINESIA, PRIMARY, 9; CILD9", "OMIM:613193": "CILIARY DYSKINESIA, PRIMARY, 13; CILD13", "OMIM:614874": "CILIARY DYSKINESIA, PRIMARY, 18; CILD18", "OMIM:617091": "CILIARY DYSKINESIA, PRIMARY, 34; CILD34", "OMIM:608644": "CILIARY DYSKINESIA, PRIMARY, 3; CILD3", "OMIM:618449": "CILIARY DYSKINESIA, PRIMARY, 41; CILD41", "OMIM:215520": "CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES", "OMIM:614935": "CILIARY DYSKINESIA, PRIMARY, 19; CILD19", "OMIM:215518": "CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION", "OMIM:617092": "CILIARY DYSKINESIA, PRIMARY, 35; CILD35", "OMIM:616037": "CILIARY DYSKINESIA, PRIMARY, 30; CILD30", "OMIM:615504": "CILIARY DYSKINESIA, PRIMARY, 27; CILD27", "OMIM:615481": "CILIARY DYSKINESIA, PRIMARY, 24; CILD24", "OMIM:613807": "CILIARY DYSKINESIA, PRIMARY, 14; CILD14", "OMIM:615500": "CILIARY DYSKINESIA, PRIMARY, 26; CILD26", "OMIM:613808": "CILIARY DYSKINESIA, PRIMARY, 15; CILD15", "OMIM:615294": "CILIARY DYSKINESIA, PRIMARY, 21; CILD21", "OMIM:614679": "CILIARY DYSKINESIA, PRIMARY, 17; CILD17", "ORPHA:1642": "Distal monosomy 9p / Distal deletion 9p syndrome / Monosomy 9pter / Telomeric deletion 9p", "OMIM:615482": "CILIARY DYSKINESIA, PRIMARY, 25; CILD25", "OMIM:615505": "CILIARY DYSKINESIA, PRIMARY, 28; CILD28", "OMIM:615444": "CILIARY DYSKINESIA, PRIMARY, 22; CILD22", "OMIM:616481": "CILIARY DYSKINESIA, PRIMARY, 32; CILD32", "OMIM:612518": "CILIARY DYSKINESIA, PRIMARY, 10; CILD10", "OMIM:610852": "CILIARY DYSKINESIA, PRIMARY, 6; CILD6", "OMIM:225300": "SPLIT-HAND/FOOT MALFORMATION 6; SHFM6", "OMIM:313350": "SPLIT-HAND/FOOT MALFORMATION 2; SHFM2", "OMIM:605289": "SPLIT-HAND/FOOT MALFORMATION 4; SHFM4", "ORPHA:1643": "Xp22.3 microdeletion syndrome / Del(X)(p23)", "OMIM:612286": "NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1", "OMIM:612287": "NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2", "OMIM:615524": "MICROPHTHALMIA, SYNDROMIC 12; MCOPS12", "OMIM:615851": "PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E", "OMIM:616809": "HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6; HPMRS6", "OMIM:616025": "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11", "OMIM:239300": "HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1; HPMRS1", "OMIM:614207": "HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3; HPMRS3", "OMIM:614749": "HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2; HPMRS2", "OMIM:615716": "HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4; HPMRS4", "ORPHA:1646": "Partial chromosome Y deletion / Chromosome Y microdeletion syndrome / Male infertility due to chromosome Y microdeletion / Microdeletion of the AZF region on the Y chromosome", "OMIM:614204": "PSORIASIS 14, PUSTULAR; PSORS14", "OMIM:616106": "PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15", "OMIM:611783": "ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4", "OMIM:609820": "ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3", "OMIM:155350": "MEGALENCEPHALY, AUTOSOMAL DOMINANT", "OMIM:248000": "MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH", "OMIM:613925": "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A", "OMIM:616734": "SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2", "OMIM:617141": "ANIRIDIA 2; AN2", "ORPHA:101006": "Autosomal recessive spastic paraplegia type 26/Spastic paraplegia 26, autosomal recessive / GM2 synthase deficiency / SPG26", "OMIM:609195": "SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26", "ORPHA:1647": "Oculocerebrocutaneous syndrome/Oculocerebrocutaneous syndrome / Delleman syndrome / Delleman-Oorthuys syndrome / Leichtman-Wood-Rohn syndrome / OCCS / Orbital cyst with cerebral and focal dermal malformations", "OMIM:164180": "OCULOCEREBROCUTANEOUS SYNDROME", "OMIM:617142": "ANIRIDIA 3; AN3", "OMIM:614134": "STICKLER SYNDROME, TYPE IV; STL4", "OMIM:614284": "STICKLER SYNDROME, TYPE V; STL5", "OMIM:615663": "WARBURG MICRO SYNDROME 4; WARBM4", "OMIM:614225": "WARBURG MICRO SYNDROME 2; WARBM2", "OMIM:614222": "WARBURG MICRO SYNDROME 3; WARBM3", "OMIM:617984": "MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22", "OMIM:612703": "MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7", "OMIM:608716": "MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5", "OMIM:604804": "MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3", "OMIM:604321": "MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4", "OMIM:604317": "MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2", "OMIM:617090": "MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17", "OMIM:616486": "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES; NEDMISBA", "OMIM:616681": "MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16", "OMIM:615414": "MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE; MCPH11", "OMIM:617914": "MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20", "OMIM:614852": "MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9", "OMIM:616080": "MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE; MCPH12", "OMIM:608393": "MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6", "OMIM:604348": "ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1; FASPS1", "OMIM:614673": "MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8", "OMIM:616402": "MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14", "OMIM:616311": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33; MRD33", "OMIM:616067": "46,XY SEX REVERSAL 9; SRXY9", "OMIM:615542": "TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD", "OMIM:187370": "ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10", "OMIM:194470": "ZINC, ELEVATED PLASMA", "OMIM:616568": "Glioma susceptibility 9", "OMIM:616335": "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3", "OMIM:613811": "PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D", "OMIM:617026": "PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F", "OMIM:612389": "PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B", "OMIM:612390": "PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C", "OMIM:277470": "PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A", "OMIM:610093": "MICROPHTHALMIA, ISOLATED 2; MCOP2", "OMIM:613517": "MICROPHTHALMIA, ISOLATED 6; MCOP6", "OMIM:156850": "MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1", "OMIM:613704": "MICROPHTHALMIA, ISOLATED 7; MCOP7", "OMIM:615113": "MICROPHTHALMIA, ISOLATED 8; MCOP8", "OMIM:613094": "MICROPHTHALMIA, ISOLATED 4; MCOP4", "OMIM:611038": "MICROPHTHALMIA, SYNDROMIC 16; MCOPS16", "OMIM:614293": "HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2", "OMIM:618431": "HYDATIDIFORM MOLE, RECURRENT, 3; HYDM3", "OMIM:231090": "HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1", "ORPHA:1652": "Dent disease / Dent syndrome / Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis / Renal Fanconi syndrome with nephrocalcinosis and renal stones / X-linked recessive hypercalciuric hypophosphatemic rickets / X-linked recessive nephrolithiasis", "OMIM:617069": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3", "OMIM:258450": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1", "OMIM:609286": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3", "OMIM:609283": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2", "OMIM:613077": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5", "OMIM:610131": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4", "OMIM:604273": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1", "OMIM:615228": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B; MC5DN4B", "OMIM:614053": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3", "OMIM:618120": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5", "ORPHA:1653": "Dentin dysplasia / DD", "OMIM:618257": "DEAFNESS, AUTOSOMAL RECESSIVE 112; DFNB112", "OMIM:618228": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6; MC1DN6", "OMIM:618233": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10", "OMIM:618240": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18; MC1DN18", "OMIM:618241": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19; MC1DN19", "OMIM:616277": "MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D", "OMIM:618243": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22", "OMIM:618239": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17; MC1DN17", "OMIM:618249": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28", "OMIM:618244": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23; MC1DN23", "ORPHA:1655": "Müllerian derivatives-lymphangiectasia-polydactyly syndrome/Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly / Urioste syndrome", "OMIM:235255": "MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY", "OMIM:618222": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2; MC1DN2", "OMIM:618224": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3", "OMIM:618235": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13; MC1DN13", "OMIM:618230": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8; MC1DN8", "OMIM:618226": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5; MC1DN5", "OMIM:618229": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7; MC1DN7", "OMIM:618225": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4", "OMIM:618248": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27; MC1DN27", "OMIM:607426": "COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1", "OMIM:614652": "COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3", "ORPHA:1656": "Dermatitis herpetiformis / Duhring-Brocq disease", "OMIM:613803": "MEIER-GORLIN SYNDROME 3; MGORS3", "OMIM:613805": "MEIER-GORLIN SYNDROME 5; MGORS5", "OMIM:224690": "MEIER-GORLIN SYNDROME 1; MGORS1", "OMIM:613804": "MEIER-GORLIN SYNDROME 4; MGORS4", "OMIM:613800": "MEIER-GORLIN SYNDROME 2; MGORS2", "OMIM:616835": "MEIER-GORLIN SYNDROME 6; MGORS6", "OMIM:617063": "MEIER-GORLIN SYNDROME 7; MGORS7", "OMIM:300952": "LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3", "OMIM:300887": "LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2", "OMIM:128100": "DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1", "OMIM:602554": "TORSION DYSTONIA WITH ONSET IN INFANCY", "OMIM:614042": "MOYAMOYA DISEASE 5; MYMY5", "OMIM:618138": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23", "OMIM:615293": "MYOFIBROMATOSIS, INFANTILE, 2; IMF2", "OMIM:615883": "MYOPATHY, TUBULAR AGGREGATE, 2; TAM2", "OMIM:251950": "MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS; MMLA", "OMIM:613561": "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2", "ORPHA:101007": "Autosomal recessive spastic paraplegia type 27/Spastic paraplegia 27, autosomal recessive / SPG27", "OMIM:609041": "SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27", "OMIM:205950": "ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY; SIDBA2", "OMIM:182170": "ANEMIA, SIDEROBLASTIC, 4; SIDBA4", "OMIM:155310": "VISCERAL MYOPATHY 1; VSCM1", "OMIM:618251": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31", "OMIM:618242": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21", "OMIM:618238": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16; MC1DN16", "OMIM:618234": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11", "OMIM:301020": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12", "OMIM:618253": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33; MC1DN33", "OMIM:301021": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30", "OMIM:618237": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15; MC1DN15", "OMIM:618232": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9; MC1DN9", "OMIM:618245": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24; MC1DN24", "OMIM:618246": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25; MC1DN25", "OMIM:618250": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29; MC1DN29", "OMIM:618236": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14; MC1DN14", "OMIM:612998": "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4", "OMIM:612999": "EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5", "OMIM:616516": "EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3", "OMIM:181350": "EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2", "OMIM:614302": "EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7", "OMIM:612921": "THREE M SYNDROME 2; 3M2", "OMIM:614205": "THREE M SYNDROME 3; 3M3", "OMIM:617768": "KLEEFSTRA SYNDROME 2; KLEFS2", "OMIM:614185": "GELEOPHYSIC DYSPLASIA 2; GPHYSD2", "OMIM:231050": "GELEOPHYSIC DYSPLASIA 1; GPHYSD1", "OMIM:617809": "GELEOPHYSIC DYSPLASIA 3; GPHYSD3", "OMIM:614212": "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4", "OMIM:616265": "PEELING SKIN SYNDROME 3; PSS3", "OMIM:618084": "PEELING SKIN SYNDROME 6; PSS6", "ORPHA:1657": "Dermatoosteolysis, Kirghizian type", "OMIM:210730": "Microcephalic osteodysplastic primordial dwarfism, type III", "OMIM:210710": "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1", "OMIM:607174": "MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO", "OMIM:613027": "GLYCOGEN STORAGE DISEASE IXc; GSD9C", "OMIM:306000": "GLYCOGEN STORAGE DISEASE IXa1; GSD9A1", "OMIM:300770": "SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4", "OMIM:614370": "SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5", "OMIM:156830": "MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL", "OMIM:616038": "NEU-LAXOVA SYNDROME 2; NLS2", "OMIM:617468": "ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT; AMC1", "OMIM:618186": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3; CHN3", "OMIM:616286": "LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7", "OMIM:616287": "LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8", "OMIM:601634": "NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS", "OMIM:182940": "NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD", "OMIM:615752": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14B (BILATERAL PERISYLVIAN); CDCBM14B", "OMIM:300388": "POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX", "OMIM:616531": "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB", "OMIM:158901": "FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2", "OMIM:158900": "FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1", "OMIM:208085": "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1", "OMIM:613404": "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2", "OMIM:617506": "NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2", "OMIM:607721": "NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1", "OMIM:615112": "UROFACIAL SYNDROME 2; UFS2", "OMIM:257850": "OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE", "OMIM:300166": "MICROPHTHALMIA, SYNDROMIC 2; MCOPS2", "OMIM:253800": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4", "OMIM:153670": "BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2", "OMIM:617542": "GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; HGPPS2", "OMIM:602450": "SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION", "OMIM:300804": "JOUBERT SYNDROME 10; JBTS10", "OMIM:615665": "JOUBERT SYNDROME 22; JBTS22", "OMIM:617127": "OROFACIODIGITAL SYNDROME XV; OFD15", "ORPHA:1658": "Absence of fingerprints-congenital milia syndrome/Basan syndrome / Absence of dermatoglyphics-congenital milia syndrome / Baird syndrome / Basan-Baird syndrome", "OMIM:129200": "BASAN SYNDROME", "OMIM:614815": "JOUBERT SYNDROME 18; JBTS18", "OMIM:609404": "PREECLAMPSIA/ECLAMPSIA 4; PEE4", "OMIM:614595": "PREECLAMPSIA/ECLAMPSIA 5; PEE5", "OMIM:615342": "PULMONARY HYPERTENSION, PRIMARY, 2; PPH2", "OMIM:616437": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3", "OMIM:600795": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7; FTDALS7", "OMIM:608030": "AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS6", "OMIM:615911": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2", "OMIM:616439": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4", "OMIM:612069": "AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10", "OMIM:105550": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1", "OMIM:613954": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6; FTDALS6", "OMIM:617593": "SPERMATOGENIC FAILURE 20; SPGF20", "OMIM:606766": "SPERMATOGENIC FAILURE 3; SPGF3", "OMIM:617592": "SPERMATOGENIC FAILURE 19; SPGF19", "OMIM:618153": "SPERMATOGENIC FAILURE 34; SPGF34", "OMIM:617576": "SPERMATOGENIC FAILURE 18; SPGF18", "OMIM:617965": "SPERMATOGENIC FAILURE 27; SPGF27", "ORPHA:1659": "Dermatoleukodystrophy/DERMATOLEUKODYSTROPHY / Cutis laxa-leukodystrophy", "OMIM:221790": "DERMATOLEUKODYSTROPHY", "OMIM:618429": "SPERMATOGENIC FAILURE 37; SPGF37", "OMIM:614822": "SPERMATOGENIC FAILURE 10; SPGF10", "OMIM:618433": "SPERMATOGENIC FAILURE 38; SPGF38", "OMIM:612997": "SPERMATOGENIC FAILURE 7; SPGF7", "OMIM:618152": "SPERMATOGENIC FAILURE 33; SPGF33", "OMIM:256450": "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1", "OMIM:601820": "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2", "OMIM:188700": "BLOUNT DISEASE, INFANTILE", "OMIM:259200": "BLOUNT DISEASE, ADOLESCENT", "OMIM:609220": "BRUCK SYNDROME 2; BRKS2", "ORPHA:101008": "Autosomal recessive spastic paraplegia type 28/Spastic paraplegia 28, autosomal recessive / SPG28", "OMIM:609340": "SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28", "OMIM:267200": "RENAL TUBULAR ACIDOSIS III", "OMIM:615560": "OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY; OTFCS2", "OMIM:167100": "HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; PHOAD", "OMIM:614441": "PHOAR2-ENTEROPATHY SYNDROME; PHOAR2E", "OMIM:615935": "PANCREATIC AGENESIS 2; PAGEN2", "OMIM:608895": "MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3", "OMIM:613977": "CYANOSIS, TRANSIENT NEONATAL; TNCY", "OMIM:145250": "HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH", "OMIM:614613": "ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2", "OMIM:101800": "ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1", "OMIM:613744": "SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51", "OMIM:612936": "SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50", "OMIM:614066": "SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47", "OMIM:614067": "SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52", "OMIM:242100": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2; ARCI2", "OMIM:606545": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3; ARCI3", "OMIM:605909": "PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "OMIM:616840": "PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23", "OMIM:615528": "PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A", "OMIM:606324": "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7", "OMIM:610297": "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13", "OMIM:600116": "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "OMIM:228020": "FASCIAL DYSTROPHY, CONGENITAL", "OMIM:610168": "LOEYS-DIETZ SYNDROME 2; LDS2", "OMIM:613930": "ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 3; APMR3", "OMIM:610422": "ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 2; APMR2", "OMIM:615300": "PERRAULT SYNDROME 4; PRLTS4", "OMIM:616138": "PERRAULT SYNDROME 5; PRLTS5", "OMIM:614926": "PERRAULT SYNDROME 2; PRLTS2", "OMIM:614129": "PERRAULT SYNDROME 3; PRLTS3", "OMIM:617565": "PERRAULT SYNDROME 6; PRLTS6", "OMIM:130600": "ELLIPTOCYTOSIS 2; EL2", "OMIM:611804": "ELLIPTOCYTOSIS 1; EL1", "OMIM:235370": "HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS", "OMIM:610021": "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7", "OMIM:261680": "PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC", "OMIM:261650": "PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM", "OMIM:617088": "SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15", "OMIM:618123": "POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8", "OMIM:600081": "VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B", "OMIM:241520": "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1", "OMIM:613312": "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2", "OMIM:193000": "VESICOURETERAL REFLUX 1; VUR1", "OMIM:615963": "VESICOURETERAL REFLUX 8; VUR8", "CCRD:17": "腓骨肌萎缩症/Charcot-Marie-Tooth disease; CMT", "OMIM:613674": "VESICOURETERAL REFLUX 3; VUR3", "OMIM:610878": "VESICOURETERAL REFLUX 2; VUR2", "OMIM:607936": "PEELING SKIN SYNDROME 4; PSS4", "OMIM:617115": "PEELING SKIN SYNDROME 5; PSS5", "OMIM:617301": "GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE", "OMIM:162100": "AMYOTROPHY, HEREDITARY NEURALGIC; HNA", "OMIM:614165": "PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; PPGL5", "ORPHA:1660": "Dermoodontodysplasia/DERMOODONTODYSPLASIA", "OMIM:125640": "DERMOODONTODYSPLASIA", "OMIM:168000": "PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1; PPGL1", "OMIM:605373": "PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3; PPGL3", "OMIM:618464": "PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 6; PPGL6", "OMIM:115310": "PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4; PPGL4", "OMIM:601650": "PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2; PPGL2", "OMIM:618475": "PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 7; PPGL7", "OMIM:171300": "PHEOCHROMOCYTOMA", "OMIM:617004": "POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS; PCLD2", "OMIM:616645": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34; DEE34", "OMIM:614959": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14; DEE14", "ORPHA:166002": "Multiple epiphyseal dysplasia due to collagen 9 anomaly", "OMIM:615338": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16; DEE16", "OMIM:613722": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12", "OMIM:265050": "3MC SYNDROME 2; 3MC2", "OMIM:257920": "3MC SYNDROME 1; 3MC1", "OMIM:248340": "3MC SYNDROME 3; 3MC3", "OMIM:615710": "MITCHELL-RILEY SYNDROME; MTCHRS", "OMIM:614483": "BRAIN SMALL VESSEL DISEASE 2; BSVD2", "OMIM:175780": "BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES; BSVD1", "OMIM:614328": "INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1", "OMIM:616069": "NEONATAL NEPHROCUTANEOUS INFLAMMATORY SYNDROME; NNCIS", "ORPHA:166011": "Multiple epiphyseal dysplasia, Beighton type/Epiphyseal dysplasia, multiple, with myopia and conductive deafness / Multiple epiphyseal dysplasia-myopia-deafness syndrome / Multiple epiphyseal dysplasia-myopia-hearing loss syndrome", "OMIM:132450": "EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD", "OMIM:208540": "RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1", "OMIM:615415": "RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2", "OMIM:174500": "POLYDACTYLY, PREAXIAL II; PPD2", "OMIM:615539": "EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2", "OMIM:601223": "NEURONAL INTESTINAL DYSPLASIA, TYPE B", "OMIM:243180": "VISCERAL NEUROPATHY, FAMILIAL, 1, AUTOSOMAL RECESSIVE; VSCN1", "OMIM:613662": "MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B", "OMIM:603041": "MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1", "OMIM:618469": "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B", "ORPHA:166016": "Multiple epiphyseal dysplasia, Lowry type / Multiple epiphyseal dysplasia with Robin phenotype", "OMIM:243310": "BARAITSER-WINTER SYNDROME 1; BRWS1", "OMIM:614583": "BARAITSER-WINTER SYNDROME 2; BRWS2", "OMIM:300942": "CHROMOSOME Xq26.3 DUPLICATION SYNDROME", "OMIM:616963": "HYPERCALCEMIA, INFANTILE, 2; HCINF2", "OMIM:610031": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7", "OMIM:205100": "AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2", "OMIM:602099": "AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5", "OMIM:614373": "AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16", "OMIM:618267": "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3", "ORPHA:101009": "Autosomal dominant spastic paraplegia type 29/Spastic paraplegia 29, autosomal dominant / SPG29", "OMIM:609727": "SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29", "ORPHA:166024": "Multiple epiphyseal dysplasia, Al-Gazali type/Al-Gazali-Bakalinova syndrome / Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome", "OMIM:607131": "AL-GAZALI-BAKALINOVA SYNDROME; AGBK", "OMIM:618309": "IMMUNODEFICIENCY 130 WITH HPV-RELATED VERRUCOSIS; IMD130", "OMIM:600145": "SACRAL DEFECT WITH ANTERIOR MENINGOCELE", "OMIM:605751": "SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2", "OMIM:617080": "SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5", "OMIM:604185": "FACIAL PARESIS, HEREDITARY CONGENITAL, 2; HCFP2", "OMIM:614744": "FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3", "OMIM:615551": "EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2", "OMIM:609324": "EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA", "OMIM:611364": "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4", "OMIM:607628": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11", "OMIM:617924": "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10", "OMIM:614280": "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9; EJM9", "OMIM:604827": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7", "OMIM:613060": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10", "OMIM:607682": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9", "OMIM:612437": "EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B", "OMIM:609325": "EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES", "OMIM:232500": "GLYCOGEN STORAGE DISEASE IV; GSD4", "OMIM:144250": "HYPERLIPIDEMIA, FAMILIAL COMBINED, 3; FCHL3", "OMIM:613454": "RETT SYNDROME, CONGENITAL VARIANT", "OMIM:617904": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59; DEE59", "OMIM:617903": "NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS", "OMIM:616331": "ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2", "ORPHA:166035": "Brachydactyly-short stature-retinitis pigmentosa syndrome/Retinitis pigmentosa with or without skeletal anomalies", "OMIM:250410": "RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA", "OMIM:616894": "ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3", "OMIM:612281": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6", "OMIM:601277": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A", "OMIM:617571": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14; ARCI14", "OMIM:613943": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8", "OMIM:604777": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5", "OMIM:617341": "CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2", "OMIM:616803": "LAMB-SHAFFER SYNDROME; LAMSHF", "OMIM:615546": "VAN MALDERGEM SYNDROME 2; VMLDS2", "OMIM:614437": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B", "OMIM:300703": "SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5", "OMIM:614305": "SCLEROSTEOSIS 2; SOST2", "OMIM:269500": "SCLEROSTEOSIS 1; SOST1", "OMIM:610189": "SENIOR-LOKEN SYNDROME 6; SLSN6", "OMIM:606996": "SENIOR-LOKEN SYNDROME 4; SLSN4", "OMIM:609254": "SENIOR-LOKEN SYNDROME 5; SLSN5", "OMIM:606995": "SENIOR-LOKEN SYNDROME 3; SLSN3", "OMIM:614845": "NEPHRONOPHTHISIS 15; NPHP15", "ORPHA:166063": "Pontocerebellar hypoplasia type 4/Pontocerebellar hypoplasia, type 4 / Fatal infantile encephalopathy with olivopontocerebellar hypoplasia / Olivopontocerebellar hypoplasia / PCH4", "OMIM:225753": "PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4", "OMIM:613615": "SENIOR-LOKEN SYNDROME 7; SLSN7", "OMIM:616307": "SENIOR-LOKEN SYNDROME 8; SLSN8", "OMIM:616629": "SENIOR-LOKEN SYNDROME 9; SLSN9", "OMIM:617756": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5; EKVP5", "OMIM:133200": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1", "OMIM:617526": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4", "OMIM:617524": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2", "OMIM:617525": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3", "OMIM:133180": "ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO; FERLK", "OMIM:265500": "PULMONIC STENOSIS", "OMIM:610204": "PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5", "OMIM:300854": "RENAL CELL CARCINOMA, Xp11-ASSOCIATED; RCCX1", "OMIM:616535": "THYROID CANCER, NONMEDULLARY, 5; NMTC5", "OMIM:616534": "THYROID CANCER, NONMEDULLARY, 4; NMTC4", "OMIM:606240": "THYROID CANCER, NONMEDULLARY, 3; NMTC3", "OMIM:188470": "THYROID CANCER, NONMEDULLARY, 2; NMTC2", "OMIM:614889": "IMMUNODEFICIENCY 28; IMD28", "OMIM:209950": "IMMUNODEFICIENCY 27A; IMD27A", "OMIM:618011": "HYPEREKPLEXIA 4; HKPX4", "OMIM:611523": "PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6", "OMIM:614619": "HYPEREKPLEXIA 2; HKPX2", "OMIM:614618": "HYPEREKPLEXIA 3; HKPX3", "OMIM:601701": "ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA", "OMIM:194380": "DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1", "OMIM:616689": "DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2", "OMIM:600209": "EXOSTOSES, MULTIPLE, TYPE III; EXT3", "OMIM:133701": "EXOSTOSES, MULTIPLE, TYPE II; EXT2", "OMIM:616617": "HEIMLER SYNDROME 2; HMLR2", "OMIM:300661": "PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY", "OMIM:610017": "MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2", "OMIM:193400": "VON WILLEBRAND DISEASE, TYPE 1; VWD1", "OMIM:612961": "MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3", "OMIM:186500": "MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1", "OMIM:300884": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36", "OMIM:303400": "CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; CPX", "OMIM:602771": "CONGENITAL MYOPATHY 3 WITH RIGID SPINE; CMYO3", "OMIM:615298": "SYMPHALANGISM, PROXIMAL, 1B; SYM1B", "OMIM:603909": "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A", "OMIM:615559": "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3", "OMIM:179300": "RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO; RUS", "OMIM:611938": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2", "OMIM:613554": "VON WILLEBRAND DISEASE, TYPE 2; VWD2", "OMIM:614021": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3", "OMIM:614916": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4", "OMIM:615441": "CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS; CARDAR", "OMIM:615895": "POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1", "OMIM:618183": "DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR10", "OMIM:615863": "DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR7", "OMIM:616479": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2", "OMIM:618021": "TETRAAMELIA SYNDROME 2; TETAMS2", "ORPHA:101010": "Autosomal spastic paraplegia type 30/Spastic paraplegia 30, autosomal recessive / SPG30", "OMIM:610357": "SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT; SPG30A", "OMIM:273395": "TETRAAMELIA SYNDROME 1; TETAMS1", "OMIM:615744": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19; DEE19", "OMIM:613235": "FACTOR XIII, B SUBUNIT, DEFICIENCY OF", "OMIM:613225": "FACTOR XIII, A SUBUNIT, DEFICIENCY OF", "OMIM:187760": "THORACOLARYNGOPELVIC DYSPLASIA; TLPD", "OMIM:187950": "THROMBOCYTHEMIA 1; THCYT1", "OMIM:614521": "THROMBOCYTHEMIA 3; THCYT3", "OMIM:601977": "THROMBOCYTHEMIA 2; THCYT2", "OMIM:243320": "INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF", "OMIM:616553": "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6", "OMIM:119100": "SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1", "OMIM:612576": "CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME", "OMIM:188740": "TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP", "OMIM:616943": "TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6", "OMIM:601675": "TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1", "OMIM:234050": "TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4", "OMIM:300953": "TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5", "OMIM:616395": "TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3", "OMIM:616390": "TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2", "OMIM:613388": "FANCONI RENOTUBULAR SYNDROME 2; FRTS2", "OMIM:615605": "FANCONI RENOTUBULAR SYNDROME 3; FRTS3", "OMIM:612240": "ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7", "OMIM:617280": "ATRIAL FIBRILLATION, FAMILIAL, 18; ATFB18", "OMIM:614050": "ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12", "OMIM:613980": "ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9", "OMIM:611493": "ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4", "OMIM:611494": "ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5", "OMIM:614022": "ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10", "OMIM:612201": "ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6", "OMIM:615770": "ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15", "OMIM:615378": "ATRIAL FIBRILLATION, FAMILIAL, 14; ATFB14", "OMIM:615377": "ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13", "OMIM:614049": "ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11", "OMIM:607554": "ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3", "OMIM:190440": "TRIGONOCEPHALY 1; TRIGNO1", "OMIM:614485": "TRIGONOCEPHALY 2; TRIGNO2", "OMIM:277480": "VON WILLEBRAND DISEASE, TYPE 3; VWD3", "OMIM:314390": "VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX", "OMIM:609886": "Glomerulocystic kidney disease with hyperuricemia and isosthenuria", "OMIM:603860": "Medullary cystic kidney disease 2", "OMIM:134610": "FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT", "OMIM:600193": "WAARDENBURG SYNDROME, TYPE 2B; WS2B", "OMIM:611584": "WAARDENBURG SYNDROME, TYPE 2E; WS2E", "OMIM:608890": "Waardenburg syndrome, type 2D", "ORPHA:1661": "X-linked corneal dermoid/Dermoids of cornea / Corneal dystrophy epithelial-short stature syndrome / Guízar Vázquez-Luengas-Muñoz syndrome", "OMIM:304730": "DERMOIDS OF CORNEA; CND", "OMIM:277600": "WEILL-MARCHESANI SYNDROME 1; WMS1", "OMIM:614819": "WEILL-MARCHESANI SYNDROME 3; WMS3", "OMIM:613477": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5; DEE5", "OMIM:617065": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40; DEE40", "OMIM:618298": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70", "OMIM:617929": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60; DEE60", "OMIM:616139": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27; DEE27", "OMIM:615006": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15; DEE15", "OMIM:616418": "HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1; HOMGSMR1", "OMIM:613882": "HYPOMAGNESEMIA 6, RENAL; HOMG6", "ORPHA:166100": "Autosomal dominant otospondylomegaepiphyseal dysplasia/Stickler syndrome, type III / AD OSMED / Stickler syndrome type 3 / Stickler syndrome, non-ocular type", "OMIM:184840": "OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA", "OMIM:611718": "HYPOMAGNESEMIA 4, RENAL; HOMG4", "OMIM:241600": "IMMUNODEFICIENCY 43; IMD43", "OMIM:604928": "WOLFRAM SYNDROME 2; WFS2", "OMIM:598500": "WOLFRAM SYNDROME, MITOCHONDRIAL FORM", "OMIM:616455": "ZIMMERMANN-LABAND SYNDROME 2; ZLS2", "OMIM:610217": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B", "OMIM:123100": "CRANIOSYNOSTOSIS 1; CRS1", "OMIM:615529": "CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5", "OMIM:615314": "CRANIOSYNOSTOSIS 3; CRS3", "OMIM:616602": "CRANIOSYNOSTOSIS 6; CRS6", "OMIM:613955": "AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2; PLCA2", "OMIM:614750": "MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13", "OMIM:610542": "MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12", "OMIM:616228": "MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14", "OMIM:616227": "MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15", "OMIM:609549": "NANOPHTHALMOS 2; NNO2", "OMIM:615972": "NANOPHTHALMOS 4; NNO4", "OMIM:600165": "NANOPHTHALMOS 1; NNO1", "OMIM:120430": "COLOBOMA OF OPTIC NERVE", "ORPHA:166108": "Intellectual disability, Birk-Barel type/Birk-Barel mental retardation dysmorphism syndrome / Birk-Barel syndrome / Birk-Barel Intellectual Disability-Dimorphism syndrome / Intellectual disability-hypotonia-facial dysmorphism syndrome / KCNK9 imprinting syndrome", "OMIM:612292": "BIRK-BAREL SYNDROME; BIBARS", "OMIM:613625": "FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2", "OMIM:227310": "FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR", "OMIM:227300": "FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1", "OMIM:609197": "GLUCOCORTICOID DEFICIENCY 3; GCCD3", "OMIM:614736": "GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4", "OMIM:202355": "ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT", "OMIM:617825": "GLUCOCORTICOID DEFICIENCY 5; GCCD5", "OMIM:607398": "GLUCOCORTICOID DEFICIENCY 2; GCCD2", "OMIM:612337": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22; MRD22", "OMIM:605637": "CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA; CMYO6", "ORPHA:166113": "Bazex syndrome / Acrokeratosis of Bazex / Acrokeratosis paraneoplastica / Acrokeratosis paraneoplastica of Bazex", "OMIM:613708": "NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D", "OMIM:162400": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A", "OMIM:615632": "NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F", "OMIM:613640": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C", "OMIM:618482": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10; GEFSP10", "OMIM:616172": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9", "OMIM:613863": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7", "OMIM:609800": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4; GEFSP4", "ORPHA:101011": "Autosomal dominant spastic paraplegia type 31/Spastic paraplegia 31, autosomal dominant / SPG31", "OMIM:610250": "SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31", "ORPHA:166119": "Isolated osteopoikilosis", "OMIM:604403": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2", "OMIM:232240": "GLYCOGEN STORAGE DISEASE Ic; GSD1C", "OMIM:616398": "DYSTONIA 26, MYOCLONIC; DYT26", "OMIM:159900": "DYSTONIA 11, MYOCLONIC; DYT11", "OMIM:148700": "PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1", "OMIM:113750": "ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6", "OMIM:613155": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1; MDDGB1", "OMIM:615351": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14; MDDGB14", "ORPHA:1662": "Restrictive dermopathy/Restrictive dermopathy 1 / Lethal hyperkeratosis-contracture syndrome / Lethal restrictive dermopathy / Lethal tight skin-contracture syndrome", "OMIM:275210": "RESTRICTIVE DERMOPATHY 1; RSDM1", "OMIM:613151": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3; MDDGB3", "OMIM:606612": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MDDGB5", "OMIM:613156": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2", "OMIM:608840": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6; MDDGB6", "OMIM:613152": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4; MDDGB4", "OMIM:616538": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9", "OMIM:615419": "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1", "OMIM:616801": "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2", "OMIM:277950": "WINCHESTER SYNDROME; WNCHRS", "OMIM:259600": "MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA", "OMIM:125490": "DENTINOGENESIS IMPERFECTA 1; DGI1", "OMIM:233690": "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4; CGD4", "OMIM:613960": "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3; CGD3", "OMIM:233670": "Granulomatous disease with defect in neutrophil chemotaxis", "OMIM:233710": "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2; CGD2", "OMIM:306400": "GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX", "OMIM:233700": "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1; CGD1", "OMIM:613712": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4", "OMIM:600156": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5", "OMIM:125500": "DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III", "OMIM:142623": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1", "OMIM:600155": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2", "OMIM:613711": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3", "OMIM:616817": "MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2", "ORPHA:166272": "Odontochondrodysplasia/Osteochondrodysplasia / Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome / Goldblatt chondrodysplasia / Goldblatt syndrome / ODCD", "OMIM:184260": "ODONTOCHONDRODYSPLASIA 1; ODCD1", "OMIM:616033": "MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1", "OMIM:615530": "PARKINSON DISEASE 20, EARLY-ONSET; PARK20", "OMIM:602247": "XANTHOMATOSIS, SUSCEPTIBILITY TO", "OMIM:603813": "HYPERCHOLESTEROLEMIA, FAMILIAL, 4; FHCL4", "OMIM:143890": "HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1", "OMIM:278850": "46,XX SEX REVERSAL 2; SRXX2", "OMIM:300833": "46,XX SEX REVERSAL 3; SRXX3", "OMIM:255100": "LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD", "OMIM:615595": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19", "OMIM:615513": "IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT; IMD14A", "ORPHA:166277": "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia / Suarez-Stickler syndrome", "OMIM:616005": "IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION; IMD36", "OMIM:616546": "SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14", "OMIM:615636": "JOUBERT SYNDROME 21; JBTS21", "OMIM:618204": "IMMUNODEFICIENCY 15A; IMD15A", "OMIM:618115": "SPERMATOGENIC FAILURE 32; SPGF32", "OMIM:618086": "SPERMATOGENIC FAILURE 28; SPGF28", "OMIM:617706": "SPERMATOGENIC FAILURE 22; SPGF22", "OMIM:613957": "SPERMATOGENIC FAILURE 8; SPGF8", "OMIM:309120": "SPERMATOGENIC FAILURE, X-LINKED, 2; SPGFX2", "OMIM:270960": "SPERMATOGENIC FAILURE 4; SPGF4", "OMIM:608567": "SICK SINUS SYNDROME 1; SSS1", "OMIM:615081": "SPERMATOGENIC FAILURE 11; SPGF11", "OMIM:616950": "SPERMATOGENIC FAILURE 15; SPGF15", "OMIM:618110": "SPERMATOGENIC FAILURE 30; SPGF30", "OMIM:617960": "SPERMATOGENIC FAILURE 25; SPGF25", "OMIM:615841": "SPERMATOGENIC FAILURE 13; SPGF13", "OMIM:305700": "SPERMATOGENIC FAILURE, X-LINKED, 1; SPGFX1", "OMIM:617707": "SPERMATOGENIC FAILURE 23; SPGF23", "OMIM:258150": "SPERMATOGENIC FAILURE 1; SPGF1", "OMIM:615413": "SPERMATOGENIC FAILURE 12; SPGF12", "OMIM:108420": "SPERMATOGENIC FAILURE 2; SPGF2", "OMIM:615842": "SPERMATOGENIC FAILURE 14; SPGF14", "OMIM:613735": "BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD", "OMIM:614823": "AORTIC VALVE DISEASE 2; AOVD2", "OMIM:615774": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1; OZEMA1", "OMIM:617712": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3; OZEMA3", "OMIM:618353": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6; OZEMA6", "OMIM:606719": "MELANOMA-PANCREATIC CANCER SYNDROME", "OMIM:155600": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1", "OMIM:614251": "PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "OMIM:605543": "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4", "OMIM:614203": "PARKINSON DISEASE 17; PARK17", "OMIM:616361": "PARKINSON DISEASE 21; PARK21", "OMIM:607060": "PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "OMIM:607688": "PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11", "OMIM:615721": "RENAL HYPODYSPLASIA/APLASIA 2; RHDA2", "OMIM:190330": "TRICHOMEGALY; TCMGLY", "OMIM:618188": "HYPERPARATHYROIDISM, TRANSIENT NEONATAL; HRPTTN", "OMIM:615343": "PULMONARY HYPERTENSION, PRIMARY, 3; PPH3", "OMIM:265400": "PULMONARY HYPERTENSION, PRIMARY, 5; PPH5", "OMIM:615344": "PULMONARY HYPERTENSION, PRIMARY, 4; PPH4", "OMIM:144700": "RENAL CELL CARCINOMA, NONPAPILLARY; RCC", "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; MHS5", "OMIM:203400": "CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY", "OMIM:610600": "CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY", "OMIM:302700": "CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE", "ORPHA:101016": "Romano-Ward syndrome/Long QT syndrome 1 / Romano-Ward long QT syndrome", "OMIM:192500": "LONG QT SYNDROME 1; LQT1", "OMIM:616636": "IMMUNODEFICIENCY 44; IMD44", "OMIM:616669": "IMMUNODEFICIENCY 45; IMD45", "OMIM:244200": "HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3", "OMIM:614842": "HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13", "OMIM:146110": "HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7", "OMIM:614838": "HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9", "OMIM:614858": "HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA; HH14", "OMIM:308700": "HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1", "OMIM:610628": "HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4", "OMIM:615270": "HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20", "OMIM:614840": "HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11", "OMIM:147950": "HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2", "OMIM:615266": "HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17", "OMIM:614839": "HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA; HH10", "OMIM:614841": "HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12", "OMIM:614837": "HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8", "OMIM:615269": "HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19", "OMIM:612702": "HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6", "OMIM:612370": "HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5", "OMIM:614880": "HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15", "OMIM:618056": "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS", "OMIM:300998": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35; MRXS35", "OMIM:616078": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29; MRD29", "OMIM:616541": "SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED", "OMIM:617253": "SECKEL SYNDROME 10; SCKL10", "OMIM:614920": "PEROXISOME BIOGENESIS DISORDER 14B; PEX14B", "OMIM:202370": "PEROXISOME BIOGENESIS DISORDER 2B; PBD2B", "OMIM:266510": "PEROXISOME BIOGENESIS DISORDER 3B; PBD3B", "OMIM:614867": "PEROXISOME BIOGENESIS DISORDER 5B; PBD5B", "OMIM:614873": "PEROXISOME BIOGENESIS DISORDER 7B; PBD7B", "OMIM:614885": "PEROXISOME BIOGENESIS DISORDER 11B; PBD11B", "OMIM:614871": "PEROXISOME BIOGENESIS DISORDER 6B; PBD6B", "OMIM:614863": "PEROXISOME BIOGENESIS DISORDER 4B; PBD4B", "OMIM:614877": "PEROXISOME BIOGENESIS DISORDER 8B; PBD8B", "OMIM:617370": "PEROXISOME BIOGENESIS DISORDER 10B; PBD10B", "OMIM:601539": "PEROXISOME BIOGENESIS DISORDER 1B; PBD1B", "OMIM:613763": "CATARACT 16, MULTIPLE TYPES; CTRCT16", "OMIM:116100": "CATARACT 20, MULTIPLE TYPES; CTRCT20", "OMIM:617938": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62; DEE62", "OMIM:617162": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46; DEE46", "OMIM:617836": "DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM", "OMIM:617153": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45; DEE45", "OMIM:618008": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65; DEE65", "OMIM:618396": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74; DEE74", "OMIM:616366": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32; DEE32", "OMIM:617831": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55", "OMIM:301008": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG", "OMIM:617829": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92; DEE92", "OMIM:616056": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26", "OMIM:132100": "PHOTOPAROXYSMAL RESPONSE 1; PPR1", "OMIM:615476": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18", "OMIM:618201": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68; DEE68", "OMIM:614558": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13; DEE13", "OMIM:618437": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75; DEE75", "OMIM:615905": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA; DEE25", "OMIM:615833": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21; DEE21", "OMIM:615871": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24; DEE24", "OMIM:616409": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33; DEE33", "OMIM:616339": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29; DEE29", "OMIM:617830": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58; DEE58", "OMIM:613339": "EPILEPSY, HOT WATER, 1; HWE1", "OMIM:616211": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28", "OMIM:617106": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42", "OMIM:617132": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44; DEE44", "OMIM:618012": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93; DEE93", "OMIM:617166": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47; DEE47", "OMIM:146550": "HYPOTRICHOSIS 4; HYPT4", "OMIM:612841": "HYPOTRICHOSIS 5; HYPT5", "OMIM:118830": "CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE", "OMIM:615399": "PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2; PNH2", "OMIM:271530": "BRACHYOLMIA TYPE 1, HOBAEK TYPE; BCYM1A", "OMIM:271630": "BRACHYOLMIA TYPE 1, TOLEDO TYPE; BCYM1B", "OMIM:616400": "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2; FNEPPK2", "OMIM:613000": "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1", "OMIM:175510": "GIST-PLUS SYNDROME; GISTPS", "OMIM:300624": "FRAGILE X SYNDROME; FXS", "OMIM:615511": "MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD", "OMIM:613751": "HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4", "OMIM:614779": "HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6", "OMIM:270100": "HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5", "OMIM:616749": "HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7", "OMIM:617205": "HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8", "OMIM:601086": "LATERALITY DEFECTS, AUTOSOMAL DOMINANT", "OMIM:605376": "HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2", "OMIM:306955": "HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1", "OMIM:602078": "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2", "OMIM:609384": "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C; CFEOM3C", "OMIM:609428": "TUKEL SYNDROME", "OMIM:600638": "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A", "OMIM:609612": "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE", "OMIM:103100": "ADIE PUPIL", "OMIM:300958": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB", "OMIM:617011": "MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR", "OMIM:164185": "OCULAR CICATRICIAL PEMPHIGOID; OCP", "OMIM:235200": "HEMOCHROMATOSIS, TYPE 1; HFE1", "OMIM:300908": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1; CNSHA1", "OMIM:607411": "PATENT DUCTUS ARTERIOSUS 1; PDA1", "OMIM:617035": "PATENT DUCTUS ARTERIOSUS 2; PDA2", "OMIM:617039": "PATENT DUCTUS ARTERIOSUS 3; PDA3", "OMIM:602079": "TRIMETHYLAMINURIA; TMAU", "OMIM:120100": "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1", "OMIM:616115": "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4", "OMIM:616300": "SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13", "OMIM:208500": "SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY; SRTD1", "OMIM:613819": "SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4", "OMIM:611263": "SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2", "OMIM:615633": "SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11", "OMIM:614376": "SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5", "OMIM:613091": "SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3", "OMIM:614173": "JOUBERT SYNDROME 13; JBTS13", "OMIM:614615": "JOUBERT SYNDROME 17; JBTS17", "OMIM:616654": "JOUBERT SYNDROME 24; JBTS24", "OMIM:616784": "JOUBERT SYNDROME 26; JBTS26", "OMIM:616490": "JOUBERT SYNDROME 23; JBTS23", "OMIM:617761": "JOUBERT SYNDROME 31; JBTS31", "OMIM:618161": "JOUBERT SYNDROME 35; JBTS35", "OMIM:612291": "JOUBERT SYNDROME 8; JBTS8", "OMIM:610688": "JOUBERT SYNDROME 6; JBTS6", "OMIM:617120": "JOUBERT SYNDROME 27; JBTS27", "OMIM:616781": "JOUBERT SYNDROME 25; JBTS25", "OMIM:617622": "JOUBERT SYNDROME 30; JBTS30", "OMIM:242150": "KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE; KIDAR", "OMIM:602540": "ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS", "OMIM:615267": "HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18", "OMIM:615271": "HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA; HH21", "OMIM:614897": "HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16", "OMIM:616030": "HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA; HH22", "OMIM:132300": "EPILEPSY, READING", "OMIM:300985": "VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED; CBAVDX", "OMIM:277180": "VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD", "OMIM:610448": "CHILBLAIN LUPUS 1; CHBL1", "OMIM:614415": "CHILBLAIN LUPUS 2; CHBL2", "OMIM:613107": "NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2", "OMIM:257100": "NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA", "OMIM:616867": "SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2", "OMIM:616866": "SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1", "OMIM:611722": "KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; KRBSAPA", "OMIM:617743": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4; OZEMA4", "OMIM:616780": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2; OZEMA2", "OMIM:616973": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42; MRD42", "OMIM:616917": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY; NEDHSCA", "OMIM:262300": "ACHROMATOPSIA 3; ACHM3", "OMIM:610024": "RETINAL CONE DYSTROPHY 3A; RCD3A", "OMIM:613856": "ACHROMATOPSIA 4; ACHM4", "OMIM:616517": "ACHROMATOPSIA 7; ACHM7", "OMIM:275355": "SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC", "OMIM:617017": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T", "OMIM:611554": "LEOPARD SYNDROME 2; LPRD2", "OMIM:613707": "LEOPARD SYNDROME 3; LPRD3", "OMIM:613406": "WITTEVEEN-KOLK SYNDROME; WITKOS", "OMIM:615198": "OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; OSMD", "OMIM:615583": "VERHEIJ SYNDROME; VRJS", "OMIM:618097": "MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2", "OMIM:612908": "KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2", "OMIM:607654": "KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3", "OMIM:610181": "AICARDI-GOUTIERES SYNDROME 2; AGS2", "OMIM:610333": "AICARDI-GOUTIERES SYNDROME 4; AGS4", "OMIM:610329": "AICARDI-GOUTIERES SYNDROME 3; AGS3", "OMIM:615846": "AICARDI-GOUTIERES SYNDROME 7; AGS7", "OMIM:114100": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET", "OMIM:612952": "AICARDI-GOUTIERES SYNDROME 5; AGS5", "OMIM:615010": "AICARDI-GOUTIERES SYNDROME 6; AGS6", "OMIM:225750": "AICARDI-GOUTIERES SYNDROME 1; AGS1", "OMIM:609622": "SHORT QT SYNDROME 3; SQT3", "OMIM:609621": "SHORT QT SYNDROME 2; SQT2", "OMIM:156310": "METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A", "OMIM:249900": "METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY; MLDSAPB", "OMIM:247640": "LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL", "OMIM:614473": "ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2", "OMIM:208000": "ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1", "OMIM:617661": "VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2", "OMIM:617660": "VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1", "OMIM:609265": "TUMOR PREDISPOSITION SYNDROME 4; TPDS4", "OMIM:120502": "BRANCHIOOTIC SYNDROME 2; BOS2", "OMIM:608389": "BRANCHIOOTIC SYNDROME 3; BOS3", "OMIM:615424": "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3", "OMIM:615422": "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2", "OMIM:177200": "LIDDLE SYNDROME 1; LIDLS1", "OMIM:618126": "LIDDLE SYNDROME 3; LIDLS3", "OMIM:618114": "LIDDLE SYNDROME 2; LIDLS2", "OMIM:608594": "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1", "OMIM:612526": "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3", "OMIM:269700": "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2", "OMIM:613327": "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4", "OMIM:617755": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL", "OMIM:618292": "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA; NEDIDHA", "OMIM:618112": "SPERMATOGENIC FAILURE 31; SPGF31", "OMIM:617187": "SPERMATOGENIC FAILURE 16; SPGF16", "OMIM:217300": "CORNEA PLANA 2, AUTOSOMAL RECESSIVE; CNA2", "OMIM:121400": "CORNEA PLANA 1, AUTOSOMAL DOMINANT; CNA1", "OMIM:608358": "CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYO7A", "OMIM:255160": "CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; CMYO7B", "OMIM:613101": "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITH OR WITHOUT MICROVILLUS INCLUSION DISEASE; FHL5", "OMIM:603553": "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2", "OMIM:608898": "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3", "ORPHA:101028": "Transaldolase deficiency/Transaldolase deficiency / TALDO deficiency", "OMIM:606003": "TRANSALDOLASE DEFICIENCY; TALDOD", "OMIM:603552": "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4", "OMIM:615092": "LEFT VENTRICULAR NONCOMPACTION 7; LVNC7", "OMIM:305800": "MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED", "OMIM:613024": "FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1; FL1", "OMIM:605027": "LYMPHOMA, NON-HODGKIN, FAMILIAL", "OMIM:246300": "LEPROSY, SUSCEPTIBILITY TO, 3; LPRS3", "OMIM:125851": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2", "OMIM:610508": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7", "OMIM:613375": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11", "OMIM:609812": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION; MODY8", "OMIM:606392": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4", "OMIM:613370": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10", "OMIM:616329": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13", "OMIM:612225": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9", "OMIM:616511": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14", "OMIM:600496": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3", "OMIM:125850": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1", "OMIM:606394": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6", "OMIM:314400": "CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX", "OMIM:615885": "HYPOTRICHOSIS 12; HYPT12", "OMIM:614237": "HYPOTRICHOSIS 9; HYPT9", "OMIM:614238": "HYPOTRICHOSIS 10; HYPT10", "OMIM:615059": "HYPOTRICHOSIS 11; HYPT11", "OMIM:607903": "HYPOTRICHOSIS 6; HYPT6", "OMIM:618275": "HYPOTRICHOSIS 14; HYPT14", "OMIM:207500": "ANUS, IMPERFORATE", "OMIM:301800": "ANUS, IMPERFORATE", "OMIM:613885": "MECKEL SYNDROME, TYPE 8; MKS8", "OMIM:607361": "MECKEL SYNDROME, TYPE 3; MKS3", "OMIM:614209": "MECKEL SYNDROME, TYPE 9; MKS9", "OMIM:612284": "MECKEL SYNDROME, TYPE 6; MKS6", "OMIM:603194": "MECKEL SYNDROME, TYPE 2; MKS2", "OMIM:611561": "MECKEL SYNDROME, TYPE 5; MKS5", "ORPHA:1665": "Sporadic fetal brain disruption sequence", "OMIM:611134": "MECKEL SYNDROME, TYPE 4; MKS4", "OMIM:615397": "MECKEL SYNDROME, TYPE 11; MKS11", "OMIM:617562": "MECKEL SYNDROME 13; MKS13", "OMIM:274300": "THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTHR", "OMIM:188570": "THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTHD", "OMIM:188400": "DIGEORGE SYNDROME; DGS", "OMIM:192430": "VELOCARDIOFACIAL SYNDROME; VCFS", "OMIM:309800": "MICROPHTHALMIA, SYNDROMIC 1; MCOPS1", "OMIM:141500": "MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1", "OMIM:602481": "MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2", "ORPHA:1666": "Dextrocardia", "OMIM:609634": "MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3", "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; MDDGA14", "OMIM:615181": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11", "OMIM:613154": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6", "OMIM:236670": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1", "OMIM:613150": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2", "OMIM:253280": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3", "OMIM:613153": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5", "ORPHA:1667": "Wolcott-Rallison syndrome/Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus / Early-onset diabetes mellitus with multiple epiphyseal dysplasia / WRS", "OMIM:226980": "EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS", "OMIM:159400": "MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE", "OMIM:616224": "MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22", "OMIM:616314": "MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C", "OMIM:605809": "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A", "OMIM:616323": "MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C", "OMIM:616040": "MYASTHENIC SYNDROME, CONGENITAL, 7A, PRESYNAPTIC, AND DISTAL MOTOR NEUROPATHY, AUTOSOMAL DOMINANT; CMS7A", "OMIM:614198": "MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16", "OMIM:616720": "MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19", "OMIM:616330": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 117; DEE117", "OMIM:617143": "MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20", "OMIM:254190": "MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS", "OMIM:616325": "MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9", "OMIM:616326": "MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11", "OMIM:608930": "MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B", "OMIM:616304": "MYASTHENIC SYNDROME, CONGENITAL, 17; CMS17", "OMIM:608931": "MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C", "OMIM:617239": "MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21", "OMIM:601462": "MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A", "OMIM:616313": "MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A", "ORPHA:167": "Chédiak-Higashi syndrome/Chediak-Higashi syndrome / Chédiak-Higashi disease / Chédiak-Higashi-Steinbrink syndrome", "OMIM:214500": "CHEDIAK-HIGASHI SYNDROME; CHS", "OMIM:254210": "MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6", "OMIM:254300": "MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10", "OMIM:615120": "MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8", "OMIM:616324": "MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B", "OMIM:616321": "MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A", "OMIM:603034": "MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5", "OMIM:616322": "MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B", "OMIM:264420": "FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM", "OMIM:300842": "MCLEOD SYNDROME; MCLDS", "OMIM:210200": "3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D", "OMIM:210210": "3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D", "OMIM:606070": "AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21", "OMIM:609566": "PARIETAL FORAMINA 3; PFM3", "OMIM:609597": "PARIETAL FORAMINA 2; PFM2", "OMIM:211400": "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1", "OMIM:613071": "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3", "OMIM:613021": "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2", "OMIM:617158": "MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV", "OMIM:616471": "BETHLEM MYOPATHY 2; BTHLM2", "OMIM:160800": "MYOTONIA CONGENITA, AUTOSOMAL DOMINANT", "ORPHA:1671": "Split cord malformation type I/DIASTEMATOMYELIA / Diastematomyelia / SCM type 1 / SCM type I / Split cord malformation type 1", "OMIM:222500": "DIASTEMATOMYELIA", "OMIM:255700": "MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE", "OMIM:609048": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3", "OMIM:155700": "MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR", "OMIM:155601": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2", "OMIM:615134": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9", "OMIM:615848": "TUMOR PREDISPOSITION SYNDROME 3; TPDS3", "OMIM:250800": "METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE", "ORPHA:1672": "Diencephalic syndrome / Diencephalic cachexia / Diencephalic syndrome of childhood / Diencephalic syndrome of emaciation / Russell diencephalic cachexia / Russell syndrome", "OMIM:250790": "METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA; METAG", "OMIM:613013": "NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2", "OMIM:256700": "NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1", "OMIM:162210": "NEUROFIBROMATOSIS, FAMILIAL SPINAL", "ORPHA:1675": "Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency / Familial pyrimidinemia", "OMIM:274270": "DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; DPYDD", "OMIM:607681": "FEBRILE SEIZURES, FAMILIAL, 8; FEB8", "OMIM:612269": "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5", "OMIM:607625": "NIEMANN-PICK DISEASE, TYPE C2; NPC2", "OMIM:618184": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2; CHN2", "OMIM:606002": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2; SCAN2", "OMIM:615217": "ATAXIA-OCULOMOTOR APRAXIA 3; AOA3", "OMIM:613706": "NOONAN SYNDROME 7; NS7", "OMIM:605275": "NOONAN SYNDROME 2; NS2", "OMIM:615355": "NOONAN SYNDROME 8; NS8", "OMIM:613224": "NOONAN SYNDROME 6; NS6", "OMIM:616559": "NOONAN SYNDROME 9; NS9", "OMIM:609942": "NOONAN SYNDROME 3; NS3", "OMIM:616564": "NOONAN SYNDROME 10; NS10", "OMIM:610733": "NOONAN SYNDROME 4; NS4", "OMIM:618499": "NOONAN SYNDROME 11; NS11", "OMIM:611553": "NOONAN SYNDROME 5; NS5", "OMIM:608553": "LEBER CONGENITAL AMAUROSIS 9; LCA9", "OMIM:613843": "LEBER CONGENITAL AMAUROSIS 15; LCA15", "OMIM:611755": "LEBER CONGENITAL AMAUROSIS 10; LCA10", "OMIM:604232": "LEBER CONGENITAL AMAUROSIS 3; LCA3", "OMIM:610612": "LEBER CONGENITAL AMAUROSIS 12; LCA12", "OMIM:204100": "LEBER CONGENITAL AMAUROSIS 2; LCA2", "OMIM:615360": "LEBER CONGENITAL AMAUROSIS 17; LCA17", "OMIM:618513": "LEBER CONGENITAL AMAUROSIS 19; LCA19", "OMIM:613829": "LEBER CONGENITAL AMAUROSIS 7; LCA7", "OMIM:604537": "LEBER CONGENITAL AMAUROSIS 5; LCA5", "OMIM:613835": "LEBER CONGENITAL AMAUROSIS 8; LCA8", "OMIM:614186": "LEBER CONGENITAL AMAUROSIS 16; LCA16", "OMIM:613826": "LEBER CONGENITAL AMAUROSIS 6; LCA6", "OMIM:613341": "LEBER CONGENITAL AMAUROSIS 14; LCA14", "OMIM:613837": "LEBER CONGENITAL AMAUROSIS 11; LCA11", "OMIM:612712": "LEBER CONGENITAL AMAUROSIS 13; LCA13", "OMIM:615821": "CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA", "OMIM:194090": "WILMS TUMOR 3; WT3", "OMIM:194071": "WILMS TUMOR 2; WT2", "OMIM:194070": "WILMS TUMOR 1; WT1", "OMIM:601363": "WILMS TUMOR 4; WT4", "OMIM:601583": "WILMS TUMOR 5; WT5", "OMIM:616806": "WILMS TUMOR 6; WT6", "OMIM:617271": "NEPHRONOPHTHISIS 20; NPHP20", "OMIM:615862": "NEPHRONOPHTHISIS 18; NPHP18", "OMIM:614377": "NEPHRONOPHTHISIS 13; NPHP13", "OMIM:613824": "NEPHRONOPHTHISIS 9; NPHP9", "OMIM:613159": "NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1", "OMIM:613820": "NEPHRONOPHTHISIS 12; NPHP12", "OMIM:615382": "NEPHRONOPHTHISIS 16; NPHP16", "OMIM:604387": "NEPHRONOPHTHISIS 3; NPHP3", "OMIM:606966": "NEPHRONOPHTHISIS 4; NPHP4", "OMIM:611498": "NEPHRONOPHTHISIS 7; NPHP7", "OMIM:602088": "NEPHRONOPHTHISIS 2; NPHP2", "OMIM:612551": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4", "OMIM:618178": "NEPHROTIC SYNDROME, TYPE 19; NPHS19", "OMIM:603965": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2", "OMIM:600995": "NEPHROTIC SYNDROME, TYPE 2; NPHS2", "OMIM:607832": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3", "OMIM:615861": "NEPHROTIC SYNDROME, TYPE 10; NPHS10", "OMIM:616220": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9", "OMIM:616002": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7; FSGS7", "OMIM:616730": "NEPHROTIC SYNDROME, TYPE 11; NPHS11", "OMIM:618177": "NEPHROTIC SYNDROME, TYPE 18; NPHS18", "OMIM:616893": "NEPHROTIC SYNDROME, TYPE 13; NPHS13", "OMIM:615244": "NEPHROTIC SYNDROME, TYPE 8; NPHS8", "OMIM:613237": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5", "OMIM:618176": "NEPHROTIC SYNDROME, TYPE 17; NPHS17", "OMIM:615573": "NEPHROTIC SYNDROME, TYPE 9; NPHS9", "OMIM:610725": "NEPHROTIC SYNDROME, TYPE 3; NPHS3", "OMIM:301028": "NEPHROTIC SYNDROME, TYPE 20; NPHS20", "OMIM:614196": "NEPHROTIC SYNDROME, TYPE 6; NPHS6", "OMIM:616032": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8; FSGS8", "OMIM:256370": "NEPHROTIC SYNDROME, TYPE 4; NPHS4", "OMIM:618179": "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24", "OMIM:616892": "NEPHROTIC SYNDROME, TYPE 12; NPHS12", "OMIM:614131": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6", "OMIM:603278": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1", "OMIM:201000": "CARPENTER SYNDROME 1; CRPT1", "OMIM:614976": "CARPENTER SYNDROME 2; CRPT2", "OMIM:614594": "OLMSTED SYNDROME 1; OLMS1", "OMIM:300918": "OLMSTED SYNDROME, X-LINKED; OLMSX", "OMIM:164750": "OMPHALOCELE, AUTOSOMAL", "OMIM:310980": "OMPHALOCELE, X-LINKED", "OMIM:615085": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8", "OMIM:259700": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1", "OMIM:259710": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2", "OMIM:611490": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4", "OMIM:109543": "LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2", "ORPHA:168": "Loose anagen syndrome", "OMIM:300367": "THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA", "OMIM:613345": "HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2", "OMIM:613488": "MYXOID LIPOSARCOMA", "OMIM:614928": "ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6", "OMIM:614931": "ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9", "OMIM:614927": "ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5", "OMIM:602032": "ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE; ECTD4", "OMIM:614929": "ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7", "ORPHA:1681": "Diprosopus / Craniofacial duplication / Diprosopia", "OMIM:147480": "CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1", "OMIM:614972": "CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3", "OMIM:137940": "HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS", "OMIM:607823": "HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS", "OMIM:300963": "RITSCHER-SCHINZEL SYNDROME 2; RTSC2", "OMIM:220210": "RITSCHER-SCHINZEL SYNDROME 1; RTSC1", "OMIM:104000": "ALOPECIA AREATA 1; AA1", "OMIM:610753": "ALOPECIA AREATA 2; AA2", "OMIM:300042": "ALOPECIA, CONGENITAL; ALPC", "OMIM:203655": "ALOPECIA UNIVERSALIS CONGENITA; ALUNC", "OMIM:213900": "CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE", "OMIM:169610": "PEMPHIGUS VULGARIS, FAMILIAL", "OMIM:618252": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32; MC1DN32", "OMIM:615619": "CHOLANGIOCARCINOMA, SUSCEPTIBILITY TO", "OMIM:231530": "3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY", "OMIM:268150": "RH-NULL, REGULATOR TYPE; RHNR", "OMIM:616738": "RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2", "OMIM:601399": "PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM", "ORPHA:1682": "Arterial dissection-lentiginosis syndrome/Arterial dissection with lentiginosis", "OMIM:600459": "ARTERIAL DISSECTION WITH LENTIGINOSIS", "OMIM:601665": "OBESITY", "OMIM:618406": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20", "OMIM:187900": "BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17", "OMIM:600666": "POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3", "OMIM:173900": "POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1", "OMIM:613095": "POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2", "OMIM:617610": "POLYCYSTIC KIDNEY DISEASE 5; PKD5", "OMIM:263200": "POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4", "OMIM:613412": "ESOPHAGITIS, EOSINOPHILIC, 2; EOE2", "OMIM:175800": "POROKERATOSIS 1, MULTIPLE TYPES; POROK1", "OMIM:175900": "POROKERATOSIS 3, MULTIPLE TYPES; POROK3", "OMIM:610840": "MITRAL VALVE PROLAPSE 3; MVP3", "OMIM:607829": "MITRAL VALVE PROLAPSE 2; MVP2", "OMIM:614514": "THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6", "OMIM:612336": "THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5", "OMIM:612304": "THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4", "OMIM:176860": "THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3", "OMIM:612422": "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3", "OMIM:115210": "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1", "OMIM:617047": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26", "OMIM:126700": "BASAL LAMINAR DRUSEN", "OMIM:613105": "CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2", "OMIM:613144": "CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3; CACD3", "OMIM:613411": "OGUCHI DISEASE 2", "OMIM:617174": "EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2", "OMIM:238320": "LEYDIG CELL HYPOPLASIA, TYPE I", "OMIM:177850": "PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE", "OMIM:616470": "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2", "OMIM:610442": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; SEMDG", "OMIM:176400": "PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1", "OMIM:615346": "PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2", "OMIM:612347": "JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2", "OMIM:190350": "TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1", "OMIM:190351": "TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3", "OMIM:614879": "PEROXISOME BIOGENESIS DISORDER 9B; PBD9B", "OMIM:615506": "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5", "OMIM:610655": "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4", "OMIM:600376": "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2", "ORPHA:168486": "Congenital neuronal ceroid lipofuscinosis / OBSOLETE: Congenital neuronal ceroid lipofuscinosis / OBSOLETE: Congenital NCL", "OMIM:300799": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR", "OMIM:300271": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72; XLID72", "OMIM:300983": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104; XLID104", "OMIM:300419": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29", "OMIM:300984": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105; XLID105", "OMIM:300518": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 82; XLID82", "OMIM:300454": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 77; XLID77", "OMIM:300210": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58; XLID58", "OMIM:300047": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 20; XLID20", "ORPHA:168491": "Late infantile neuronal ceroid lipofuscinosis / OBSOLETE: Late infantile neuronal ceroid lipofuscinosis / OBSOLETE: Jansky-Bielschowsky disease / OBSOLETE: LINCL / OBSOLETE: Late infantile NCL", "OMIM:300062": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 14; XLID14", "OMIM:309530": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; XLID1", "OMIM:300928": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 101; XLID101", "OMIM:300705": "CHROMOSOME Xp11.22 DUPLICATION SYNDROME", "OMIM:300387": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63; XLID63", "OMIM:300433": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 81; XLID81", "OMIM:300046": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 23; XLID23", "OMIM:300428": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 2; XLID2", "OMIM:300716": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 95; XLID95", "OMIM:300803": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97; XLID97", "ORPHA:101039": "Female restricted epilepsy with intellectual disability/Epileptic encephalopathy, early infantile, 9 / EFMR / Juberg-Hellman syndrome", "OMIM:300088": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9", "OMIM:300115": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50; XLID50", "OMIM:300851": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 92; XLID92", "OMIM:300919": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99; XLID99", "OMIM:301013": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107; XLID107", "OMIM:300844": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19; XLID19", "OMIM:300849": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41; XLID41", "OMIM:300324": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 53; XLID53", "OMIM:309549": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9; XLID9", "OMIM:300850": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90; XLID90", "OMIM:313420": "SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED; SMDXL", "OMIM:300558": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30; XLID30", "OMIM:300355": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 73; XLID73", "OMIM:300143": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21; XLID21", "OMIM:300114": "RAYNAUD-CLAES SYNDROME; MRXSRC", "OMIM:300978": "TONNE-KALSCHEUER SYNDROME; TOKAS", "OMIM:300498": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 45; XLID45", "OMIM:300848": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 89; XLID89", "OMIM:300852": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 88; XLID88", "OMIM:300436": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 46; XLID46", "OMIM:300505": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 84; XLID84", "ORPHA:168549": "Axial spondylometaphyseal dysplasia/Spondylometaphyseal dysplasia, axial", "OMIM:602271": "SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL; SMDAX", "OMIM:300802": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96; XLID96", "OMIM:601499": "AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2", "OMIM:602482": "AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3", "OMIM:614307": "ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD", "OMIM:607921": "RETINITIS PIGMENTOSA 30; RP30", "OMIM:614181": "RETINITIS PIGMENTOSA 62; RP62", "OMIM:613827": "RETINITIS PIGMENTOSA 48; RP48", "OMIM:615233": "RETINITIS PIGMENTOSA 66; RP66", "OMIM:613769": "RETINITIS PIGMENTOSA 44; RP44", "OMIM:615434": "RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS; RP82", "OMIM:617304": "RETINITIS PIGMENTOSA 77; RP77", "OMIM:610282": "RETINITIS PIGMENTOSA 35; RP35", "OMIM:608380": "RETINITIS PIGMENTOSA 26; RP26", "OMIM:300155": "RETINITIS PIGMENTOSA 24; RP24", "OMIM:601718": "RETINITIS PIGMENTOSA 19; RP19", "OMIM:312612": "RETINITIS PIGMENTOSA 6; RP6", "OMIM:610599": "RETINITIS PIGMENTOSA 36; RP36", "OMIM:615780": "RETINITIS PIGMENTOSA 69; RP69", "OMIM:613758": "RETINITIS PIGMENTOSA 47; RP47", "ORPHA:168555": "Spondylometaphyseal dysplasia, A4 type/Spondylometaphyseal dysplasia, type A4", "OMIM:609052": "SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4; SMDA4", "OMIM:617433": "RETINITIS PIGMENTOSA 78; RP78", "OMIM:617781": "RETINITIS PIGMENTOSA 80; RP80", "OMIM:611131": "RETINITIS PIGMENTOSA 37; RP37", "OMIM:618220": "RETINITIS PIGMENTOSA 84; RP84", "OMIM:617460": "RETINITIS PIGMENTOSA 79; RP79", "OMIM:616562": "RETINITIS PIGMENTOSA 74; RP74", "OMIM:602772": "RETINITIS PIGMENTOSA 25; RP25", "OMIM:614494": "RETINITIS PIGMENTOSA 63; RP63", "OMIM:613581": "RETINITIS PIGMENTOSA 56; RP56", "OMIM:613767": "RETINITIS PIGMENTOSA 45; RP45", "ORPHA:168558": "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency/Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete / 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency / XY sex reversal-adrenal failure", "OMIM:613743": "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE", "OMIM:613617": "RETINITIS PIGMENTOSA 58; RP58", "OMIM:613794": "RETINITIS PIGMENTOSA 20; RP20", "OMIM:600138": "RETINITIS PIGMENTOSA 11; RP11", "OMIM:300424": "RETINITIS PIGMENTOSA 23; RP23", "OMIM:613750": "RETINITIS PIGMENTOSA 27; RP27", "OMIM:610359": "RETINITIS PIGMENTOSA 33; RP33", "OMIM:617023": "RETINITIS PIGMENTOSA 75; RP75", "OMIM:613464": "RETINITIS PIGMENTOSA 51; RP51", "OMIM:612943": "RETINITIS PIGMENTOSA 42; RP42", "ORPHA:168563": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome/46XY gonadal dysgenesis with minifascicular neuropathy", "OMIM:607080": "46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY; GDMN", "OMIM:613861": "RETINITIS PIGMENTOSA 59; RP59", "OMIM:618345": "RETINITIS PIGMENTOSA 85; RP85", "OMIM:613983": "RETINITIS PIGMENTOSA 60; RP60", "OMIM:612572": "RETINITIS PIGMENTOSA 46; RP46", "OMIM:600105": "RETINITIS PIGMENTOSA 12; RP12", "OMIM:613194": "RETINITIS PIGMENTOSA 50; RP50", "OMIM:180104": "RETINITIS PIGMENTOSA 9; RP9", "OMIM:600852": "RETINITIS PIGMENTOSA 17; RP17", "OMIM:613801": "RETINITIS PIGMENTOSA 40; RP40", "OMIM:616469": "RETINITIS PIGMENTOSA 72; RP72", "OMIM:610505": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3", "OMIM:600059": "RETINITIS PIGMENTOSA 13; RP13", "OMIM:608133": "RETINITIS PIGMENTOSA 7; RP7", "OMIM:613862": "RETINITIS PIGMENTOSA 38; RP38", "OMIM:615922": "RETINITIS PIGMENTOSA 70; RP70", "OMIM:180210": "RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT", "OMIM:268060": "RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE", "OMIM:613809": "RETINITIS PIGMENTOSA 39; RP39", "OMIM:613810": "RETINITIS PIGMENTOSA 43; RP43", "OMIM:613756": "RETINITIS PIGMENTOSA 49; RP49", "ORPHA:168569": "H syndrome/Histiocytosis-lymphadenopathy plus syndrome", "OMIM:602782": "HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME", "OMIM:612165": "RETINITIS PIGMENTOSA 29; RP29", "OMIM:615725": "RETINITIS PIGMENTOSA 68; RP68", "OMIM:180100": "RETINITIS PIGMENTOSA 1; RP1", "OMIM:400004": "RETINITIS PIGMENTOSA, Y-LINKED; RPY", "OMIM:312600": "RETINITIS PIGMENTOSA 2; RP2", "OMIM:601414": "RETINITIS PIGMENTOSA 18; RP18", "OMIM:600132": "RETINITIS PIGMENTOSA 14; RP14", "OMIM:613731": "RETINITIS PIGMENTOSA 4; RP4", "OMIM:606068": "RETINITIS PIGMENTOSA 28; RP28", "OMIM:613428": "RETINITIS PIGMENTOSA 54; RP54", "ORPHA:168572": "Native American myopathy/Myopathy, congenital, Baily-Bloch / Congenital myopathy-cleft palate-malignant hyperthermia syndrome", "OMIM:255995": "CONGENITAL MYOPATHY 13; CMYO13", "OMIM:180105": "RETINITIS PIGMENTOSA 10; RP10", "OMIM:613575": "RETINITIS PIGMENTOSA 55; RP55", "OMIM:618195": "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA; IDDRP", "OMIM:609923": "RETINITIS PIGMENTOSA 31; RP31", "OMIM:613582": "RETINITIS PIGMENTOSA 57; RP57", "OMIM:616394": "RETINITIS PIGMENTOSA 71; RP71", "OMIM:617123": "RETINITIS PIGMENTOSA 76; RP76", "OMIM:616544": "RETINITIS PIGMENTOSA 73; RP73", "OMIM:615565": "RETINITIS PIGMENTOSA 67; RP67", "OMIM:268025": "RETINITIS PIGMENTOSA, LATE-ADULT ONSET", "ORPHA:101041": "Familial hypofibrinogenemia", "ORPHA:168577": "Hereditary cryohydrocytosis with reduced stomatin/Stomatin-deficient cryohydrocytosis with neurologic defects / CHC type 2 / Hereditary cryohydrocytosis type 2 / sdCHC", "OMIM:608885": "STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN", "OMIM:300029": "RETINITIS PIGMENTOSA 3; RP3", "OMIM:612095": "RETINITIS PIGMENTOSA 41; RP41", "OMIM:618173": "RETINITIS PIGMENTOSA 83; RP83", "OMIM:614180": "RETINITIS PIGMENTOSA 61; RP61", "OMIM:188580": "THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1", "OMIM:613239": "THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2", "OMIM:107000": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6", "OMIM:614149": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9; NDNC9", "OMIM:615674": "DOWLING-DEGOS DISEASE 3; DDD3", "OMIM:604901": "NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC", "OMIM:615696": "DOWLING-DEGOS DISEASE 4; DDD4", "OMIM:615327": "DOWLING-DEGOS DISEASE 2; DDD2", "OMIM:614714": "POROKERATOSIS 7, MULTIPLE TYPES; POROK7", "OMIM:612353": "POROKERATOSIS 6, MULTIPLE TYPES; POROK6", "OMIM:616063": "POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8", "OMIM:616631": "POROKERATOSIS 9, MULTIPLE TYPES; POROK9", "OMIM:613313": "HEMOCHROMATOSIS, TYPE 2B; HFE2B", "OMIM:214200": "Ceroid storage disease", "OMIM:613657": "D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2", "OMIM:263210": "GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS", "OMIM:615024": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10", "OMIM:615023": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9", "OMIM:615022": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7; ARCI7", "OMIM:162900": "NEVUS, EPIDERMAL", "OMIM:613480": "LYMPHATIC MALFORMATION 3; LMPHM3", "OMIM:153100": "LYMPHATIC MALFORMATION 1; LMPHM1", "OMIM:611944": "LYMPHATIC MALFORMATION 2; LMPHM2", "ORPHA:168593": "Sudden infant death-dysgenesis of the testes syndrome/Sudden infant death with dysgenesis of the testes syndrome / SIDDT", "OMIM:608800": "SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT", "OMIM:615907": "LYMPHATIC MALFORMATION 4; LMPHM4", "OMIM:614936": "PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB; PPKP1B", "OMIM:148600": "PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A", "OMIM:614028": "APOLIPOPROTEIN C-III DEFICIENCY", "OMIM:612387": "SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2", "OMIM:205250": "AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES", "OMIM:606640": "AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3", "OMIM:250850": "METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY", "OMIM:616208": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 9; FTDALS9", "OMIM:613435": "AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS12", "OMIM:617892": "AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24", "OMIM:611895": "AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9", "OMIM:614808": "AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18", "OMIM:617839": "AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23", "OMIM:615426": "AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20", "OMIM:608627": "AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8", "OMIM:300857": "AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS15", "OMIM:615515": "AMYOTROPHIC LATERAL SCLEROSIS 19; ALS19", "OMIM:105400": "AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1", "OMIM:612577": "AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11", "OMIM:613254": "TUBEROUS SCLEROSIS 2; TSC2", "OMIM:191100": "TUBEROUS SCLEROSIS 1; TSC1", "OMIM:613823": "SECKEL SYNDROME 5; SCKL5", "OMIM:613676": "SECKEL SYNDROME 4; SCKL4", "OMIM:210600": "SECKEL SYNDROME 1; SCKL1", "OMIM:600546": "INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY", "OMIM:226200": "ENTEROKINASE DEFICIENCY", "OMIM:616777": "SECKEL SYNDROME 9; SCKL9", "OMIM:606744": "SECKEL SYNDROME 2; SCKL2", "OMIM:615807": "SECKEL SYNDROME 8; SCKL8", "OMIM:260400": "SHWACHMAN-DIAMOND SYNDROME 1; SDS1", "OMIM:617941": "SHWACHMAN-DIAMOND SYNDROME 2; SDS2", "OMIM:616489": "SILVER-RUSSELL SYNDROME 3; SRS3", "OMIM:617169": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 74; MRT74", "OMIM:117550": "SOTOS SYNDROME; SOTOS", "OMIM:616649": "SPHEROCYTOSIS, TYPE 2; SPH2", "OMIM:610227": "SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS", "OMIM:270970": "SPHEROCYTOSIS, TYPE 3; SPH3", "OMIM:612690": "SPHEROCYTOSIS, TYPE 5; SPH5", "OMIM:612653": "SPHEROCYTOSIS, TYPE 4; SPH4", "OMIM:603786": "STARGARDT DISEASE 4; STGD4", "OMIM:600110": "STARGARDT DISEASE 3; STGD3", "OMIM:128800": "EAR WITHOUT HELIX", "OMIM:615937": "MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2", "OMIM:615938": "MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3", "OMIM:603387": "MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1", "OMIM:227645": "FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC", "OMIM:609053": "FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI", "OMIM:610832": "FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN", "OMIM:616435": "FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT", "OMIM:600901": "FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE", "OMIM:617247": "FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU", "OMIM:609054": "FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ", "OMIM:227646": "FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2", "OMIM:613390": "FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO", "OMIM:617244": "FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR", "OMIM:615969": "ALPHA-FETOPROTEIN DEFICIENCY; AFPD", "OMIM:615272": "FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ", "OMIM:614083": "FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL", "OMIM:300514": "FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB", "OMIM:613951": "FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP", "OMIM:603467": "FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF", "OMIM:617883": "FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS", "OMIM:617243": "FANCONI ANEMIA, COMPLEMENTATION GROUP V; FANCV", "OMIM:614082": "FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG", "OMIM:614602": "TRICHOHEPATOENTERIC SYNDROME 2; THES2", "OMIM:616217": "NEPHRONOPHTHISIS 19; NPHP19", "OMIM:615970": "ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF; HPAFP", "OMIM:613550": "NEPHRONOPHTHISIS 11; NPHP11", "OMIM:601894": "GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2", "OMIM:617443": "BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21", "OMIM:259720": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5", "OMIM:616298": "SINGLETON-MERTEN SYNDROME 2; SGMRT2", "OMIM:259750": "OSTEOPOROSIS, JUVENILE", "OMIM:137360": "GENOCHONDROMATOSIS", "OMIM:107480": "TOWNES-BROCKS SYNDROME 1; TBS1", "OMIM:617466": "TOWNES-BROCKS SYNDROME 2; TBS2", "OMIM:613854": "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6", "OMIM:608808": "TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED; DTGA", "OMIM:248390": "TREACHER COLLINS SYNDROME 3; TCS3", "OMIM:613717": "TREACHER COLLINS SYNDROME 2; TCS2", "OMIM:607876": "EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2", "OMIM:613608": "EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3", "ORPHA:168624": "Familial scaphocephaly syndrome, McGillivray type/Familial scaphocephaly syndrome, Mcgillivray type / Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome", "OMIM:609579": "SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:615400": "EPILEPSY, EARLY-ONSET, 5, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO5", "OMIM:615127": "EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4; FAME4", "OMIM:300990": "MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN", "OMIM:608805": "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1", "OMIM:617383": "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2", "OMIM:131440": "MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA", "OMIM:615510": "ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR", "OMIM:115080": "CARDIAC CONDUCTION DEFECT", "OMIM:604559": "PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B", "OMIM:140400": "PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2", "OMIM:135290": "DESMOID DISEASE, HEREDITARY; DESMD", "OMIM:256150": "NEPHROSIALIDOSIS", "OMIM:614742": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1; PFBMFT1", "OMIM:614743": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2; PFBMFT2", "OMIM:617816": "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16; GPIBD16", "OMIM:614345": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 24; MRT24", "OMIM:615817": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 43; MRT43", "OMIM:617028": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 54; MRT54", "OMIM:615802": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES; NEDDSBA", "OMIM:618109": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65; MRT65", "OMIM:605827": "BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT; GBFHS", "OMIM:616739": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51; MRT51", "OMIM:614208": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 16; MRT16", "OMIM:614499": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY; MRT34", "OMIM:614329": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 31; MRT31", "OMIM:614343": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 19; MRT19", "OMIM:614202": "RAFIQ SYNDROME; RAFQS", "OMIM:611097": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 11; MRT11", "OMIM:614340": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27; MRT27", "OMIM:613192": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13; MRT13", "OMIM:615942": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 44; MRT44", "OMIM:615979": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 45; MRT45", "OMIM:607417": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2; MRT2", "OMIM:611093": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7; MRT7", "OMIM:614333": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 29; MRT29", "OMIM:617125": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56; MRT56", "OMIM:616193": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 47; MRT47", "OMIM:249500": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 1; MRT1", "OMIM:611090": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12; MRT12", "OMIM:614341": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 33; MRT33", "OMIM:614346": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 25; MRT25", "ORPHA:168782": "Childhood disintegrative disorder / Dementia infantilis / Heller syndrome", "OMIM:614347": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 28; MRT28", "OMIM:611092": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6; MRT6", "OMIM:614342": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 30; MRT30", "OMIM:611091": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5; MRT5", "OMIM:616460": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 50; MRT50", "OMIM:611096": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 10; MRT10", "OMIM:618221": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66; MRT66", "OMIM:608443": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3; MRT3", "OMIM:616116": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46; MRT46", "OMIM:614020": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14; MRT14", "ORPHA:168796": "Heart-hand syndrome, Slovenian type/Heart-hand syndrome, Slovenian type / Atriodigital dysplasia, Slovenian type / Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome", "OMIM:610140": "HEART-HAND SYNDROME, SLOVENIAN TYPE", "OMIM:614344": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 23; MRT23", "OMIM:617188": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57; MRT57", "OMIM:611095": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 9; MRT9", "OMIM:616887": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52; MRT52", "OMIM:611107": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 4; MRT4", "OMIM:618402": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; MRT70", "OMIM:614249": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY; MRT18", "OMIM:617315": "ANTERIOR SEGMENT DYSGENESIS 6; ASGD6", "OMIM:616494": "LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11", "OMIM:614381": "LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8", "OMIM:606713": "VAN DER WOUDE SYNDROME 2; VWS2", "OMIM:613310": "EXUDATIVE VITREORETINOPATHY 5; EVR5", "OMIM:305390": "EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2", "OMIM:616468": "EXUDATIVE VITREORETINOPATHY 6; EVR6", "OMIM:605750": "EXUDATIVE VITREORETINOPATHY 3; EVR3", "OMIM:133780": "EXUDATIVE VITREORETINOPATHY 1; EVR1", "OMIM:601813": "EXUDATIVE VITREORETINOPATHY 4; EVR4", "OMIM:617572": "EXUDATIVE VITREORETINOPATHY 7; EVR7", "OMIM:613265": "WAARDENBURG SYNDROME, TYPE 4B; WS4B", "OMIM:613266": "WAARDENBURG SYNDROME, TYPE 4C; WS4C", "OMIM:277580": "WAARDENBURG SYNDROME, TYPE 4A; WS4A", "OMIM:614643": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7", "OMIM:615249": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12", "OMIM:614830": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8", "OMIM:618135": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8; MDDGC8", "OMIM:615041": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10", "OMIM:615287": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13", "OMIM:616505": "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; HMSN6B", "ORPHA:101046": "Autosomal dominant epilepsy with auditory features/Epilepsy, familial temporal lobe, 1 / ADEAF / ADLTE / ADPEAF / Autosomal dominant lateral temporal lobe epilepsy / Partial epilepsy with auditory aura / Partial epilepsy with auditory features", "OMIM:600512": "EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1", "ORPHA:168811": "Malignant peritoneal mesothelioma / Diffuse malignant peritoneal mesothelioma / Primary malignant peritoneal mesothelioma", "OMIM:181750": "SCLERODERMA, FAMILIAL PROGRESSIVE", "OMIM:314560": "VON WILLEBRAND DISEASE, X-LINKED FORM", "OMIM:123700": "CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1", "OMIM:614434": "CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2", "OMIM:616603": "CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3", "OMIM:219100": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A", "OMIM:614170": "BRITTLE CORNEA SYNDROME 2; BCS2", "OMIM:146520": "HYPOTRICHOSIS 2; HYPT2", "OMIM:613981": "HYPOTRICHOSIS 3; HYPT3", "ORPHA:168816": "Peritoneal cystic mesothelioma / Peritoneal inclusion cyst / Benign multicystic peritoneal mesothelioma / Multicystic mesothelioma / Multilocular peritoneal inclusion cyst / Peritoneal cyctic mesothelioma", "OMIM:614493": "WISKOTT-ALDRICH SYNDROME 2; WAS2", "OMIM:300066": "DEAFNESS, X-LINKED 4; DFNX4", "OMIM:300030": "DEAFNESS, X-LINKED 3; DFNX3", "OMIM:300914": "DEAFNESS, X-LINKED 6; DFNX6", "OMIM:304500": "DEAFNESS, X-LINKED 1; DFNX1", "OMIM:615654": "DEAFNESS, AUTOSOMAL DOMINANT 58; DFNA58", "OMIM:601543": "DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12", "OMIM:617606": "DEAFNESS, AUTOSOMAL DOMINANT 72; DFNA72", "OMIM:609965": "DEAFNESS, AUTOSOMAL DOMINANT 53; DFNA53", "OMIM:613074": "DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50", "ORPHA:168829": "Primary peritoneal carcinoma / EOPPC / Extra-ovarian primary peritoneal carcinoma / Primary peritoneal serous carcinoma / Serous surface papillary carcinoma", "OMIM:601868": "DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13", "OMIM:606451": "DEAFNESS, AUTOSOMAL DOMINANT 30; DFNA30", "OMIM:613558": "DEAFNESS, AUTOSOMAL DOMINANT 51; DFNA51", "OMIM:600994": "DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5", "OMIM:618410": "DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113", "OMIM:606705": "DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36", "OMIM:612643": "DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B", "OMIM:614211": "DEAFNESS, AUTOSOMAL DOMINANT 33; DFNA33", "OMIM:612642": "DEAFNESS, AUTOSOMAL DOMINANT 59; DFNA59", "OMIM:616968": "DEAFNESS, AUTOSOMAL DOMINANT 70; DFNA70", "OMIM:618140": "DEAFNESS, AUTOSOMAL DOMINANT 74; DFNA74", "OMIM:603622": "DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17", "OMIM:616707": "DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68", "OMIM:612644": "DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B", "OMIM:612431": "DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27", "OMIM:606012": "DEAFNESS, AUTOSOMAL DOMINANT 18; DFNA18", "OMIM:616357": "DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40", "OMIM:608645": "DEAFNESS, AUTOSOMAL DOMINANT 31; DFNA31", "OMIM:616044": "DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65", "OMIM:604717": "DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20", "OMIM:608394": "DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43", "OMIM:617605": "DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71", "OMIM:601317": "DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11", "OMIM:605583": "DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25", "OMIM:601316": "DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10", "OMIM:605192": "DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23", "OMIM:608224": "DEAFNESS, AUTOSOMAL DOMINANT 41; DFNA41", "OMIM:608641": "DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28", "OMIM:607453": "DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44", "OMIM:602459": "DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15", "OMIM:607841": "DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48", "OMIM:616340": "DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67", "OMIM:614152": "DEAFNESS, AUTOSOMAL DOMINANT 64; DFNA64", "OMIM:607683": "Deafness, autosomal dominant 52", "OMIM:608372": "DEAFNESS, AUTOSOMAL DOMINANT 49; DFNA49", "OMIM:600101": "DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A", "OMIM:606282": "DEAFNESS, AUTOSOMAL DOMINANT 24; DFNA24", "OMIM:616969": "DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66", "OMIM:600652": "DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A", "OMIM:609129": "AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 1; AUNA1", "OMIM:616697": "DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69", "OMIM:617663": "DEAFNESS, AUTOSOMAL DOMINANT 73; DFNA73", "OMIM:614614": "DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B", "OMIM:600965": "DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6", "OMIM:607017": "DEAFNESS, AUTOSOMAL DOMINANT 21; DFNA21", "OMIM:601412": "DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7", "OMIM:615629": "DEAFNESS, AUTOSOMAL DOMINANT 56; DFNA56", "OMIM:601369": "DEAFNESS, AUTOSOMAL DOMINANT 9; DFNA9", "OMIM:608652": "DEAFNESS, AUTOSOMAL DOMINANT 47; DFNA47", "OMIM:601544": "DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A", "OMIM:603964": "DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16", "OMIM:618094": "DEAFNESS, AUTOSOMAL RECESSIVE 110; DFNB110", "OMIM:615649": "DEAFNESS, AUTOSOMAL DOMINANT 54; DFNA54", "OMIM:607821": "DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37", "OMIM:614899": "DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93", "OMIM:607101": "DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30", "OMIM:610248": "DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65", "OMIM:613079": "DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77", "OMIM:603720": "DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16", "OMIM:613865": "DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61", "OMIM:600060": "DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2", "OMIM:608265": "DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39", "OMIM:601869": "DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15", "OMIM:609533": "DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23", "OMIM:600791": "DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4", "OMIM:617639": "DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107", "OMIM:618481": "DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99", "OMIM:600792": "DEAFNESS, AUTOSOMAL RECESSIVE 5; DFNB5", "OMIM:612789": "DEAFNESS, AUTOSOMAL RECESSIVE 71; DFNB71", "OMIM:601072": "DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8", "OMIM:609439": "DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48", "OMIM:607084": "DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31", "OMIM:601386": "DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12", "OMIM:614035": "DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29", "OMIM:613685": "DEAFNESS, AUTOSOMAL RECESSIVE 83; DFNB83", "OMIM:615837": "DEAFNESS, AUTOSOMAL RECESSIVE 101; DFNB101", "OMIM:610220": "DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59", "OMIM:618456": "DEAFNESS, AUTOSOMAL RECESSIVE 114; DFNB114", "OMIM:145981": "HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2", "OMIM:600316": "DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3", "OMIM:607039": "DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22", "OMIM:608264": "DEAFNESS, AUTOSOMAL RECESSIVE 40; DFNB40", "OMIM:618434": "DEAFNESS, AUTOSOMAL RECESSIVE 94; DFNB94", "OMIM:615429": "DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88", "OMIM:616042": "DEAFNESS, AUTOSOMAL RECESSIVE 103; DFNB103", "OMIM:603629": "DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21", "OMIM:608219": "DEAFNESS, AUTOSOMAL RECESSIVE 38; DFNB38", "OMIM:613718": "DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74", "OMIM:614414": "DEAFNESS, AUTOSOMAL RECESSIVE 96; DFNB96", "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": "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; DFNB89", "OMIM:600974": "DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7", "OMIM:609952": "DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55", "OMIM:609006": "DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36", "OMIM:609647": "DEAFNESS, AUTOSOMAL RECESSIVE 46; DFNB46", "OMIM:616515": "DEAFNESS, AUTOSOMAL RECESSIVE 104; DFNB104", "OMIM:610265": "DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67", "OMIM:610143": "DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62", "OMIM:603010": "DEAFNESS, AUTOSOMAL RECESSIVE 17; DFNB17", "OMIM:608653": "DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM; DFNB32", "OMIM:220290": "DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A", "OMIM:612433": "DEAFNESS, AUTOSOMAL RECESSIVE 45; DFNB45", "OMIM:600971": "DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6", "OMIM:615974": "DEAFNESS, AUTOSOMAL RECESSIVE 102; DFNB102", "OMIM:616705": "DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97", "OMIM:613391": "DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A", "OMIM:610154": "DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44", "OMIM:609823": "DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28", "OMIM:615540": "DEAFNESS, AUTOSOMAL RECESSIVE 76; DFNB76", "OMIM:604060": "DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20", "ORPHA:169": "Ringed hair disease/Ringed hair / Pili annulati", "OMIM:180600": "RINGED HAIR", "OMIM:601071": "DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9", "OMIM:613285": "DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25", "OMIM:610153": "DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49", "OMIM:608565": "DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35", "OMIM:617654": "DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108", "OMIM:610419": "DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68", "OMIM:614617": "DEAFNESS, AUTOSOMAL RECESSIVE 86; DFNB86", "OMIM:617637": "DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106", "OMIM:609646": "DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42", "OMIM:610212": "DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66", "ORPHA:169079": "Cernunnos-XLF deficiency / Cernunnos XLFD / Cernunnos deficiency / Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome / NHEJ1 deficiency", "OMIM:618422": "DEAFNESS, AUTOSOMAL RECESSIVE 100; DFNB100", "OMIM:614944": "DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B", "OMIM:607239": "DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33", "OMIM:614945": "DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B", "OMIM:613392": "DEAFNESS, AUTOSOMAL RECESSIVE 85; DFNB85", "OMIM:609941": "DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51", "OMIM:614934": "DEAFNESS, AUTOSOMAL RECESSIVE 70, WITH OR WITHOUT ADULT-ONSET NEURODEGENERATION; DFNB70", "OMIM:612645": "DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B", "OMIM:605428": "DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26", "OMIM:613453": "DEAFNESS, AUTOSOMAL RECESSIVE 91; DFNB91", "OMIM:615607": "IMMUNODEFICIENCY 17; IMD17", "OMIM:614861": "DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98", "OMIM:611022": "DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24", "OMIM:609706": "DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53", "OMIM:603098": "DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13", "OMIM:611451": "DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63", "OMIM:613307": "DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79", "OMIM:605818": "DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27", "OMIM:609946": "DEAFNESS, AUTOSOMAL RECESSIVE 47; DFNB47", "OMIM:603678": "DEAFNESS, AUTOSOMAL RECESSIVE 14; DFNB14", "OMIM:618145": "DEAFNESS, AUTOSOMAL RECESSIVE 111; DFNB111", "OMIM:608957": "IMMUNODEFICIENCY 116; IMD116", "OMIM:602092": "DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A", "OMIM:580000": "DEAFNESS, AMINOGLYCOSIDE-INDUCED", "OMIM:221745": "DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE", "OMIM:312000": "PANHYPOPITUITARISM, X-LINKED; PHPX", "OMIM:262600": "PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2", "OMIM:278720": "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC", "OMIM:278740": "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; XPE", "OMIM:278700": "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA", "OMIM:614870": "PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A", "OMIM:614866": "PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A", "ORPHA:169090": "Combined immunodeficiency due to CRAC channel dysfunction / Immune dysfunction due to T-cell inactivation due to calcium entry defect", "OMIM:614882": "PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A", "OMIM:614872": "PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A", "OMIM:614862": "PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A", "OMIM:614859": "PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A", "OMIM:214110": "PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A", "OMIM:614887": "PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A", "OMIM:614886": "PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A", "OMIM:614883": "PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A", "OMIM:614876": "PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A", "OMIM:615582": "LOEYS-DIETZ SYNDROME 5; LDS5", "ORPHA:169095": "Severe combined immunodeficiency due to FOXN1 deficiency/T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY / Alymphoid cystic thymic dysgenesis / Nude/SCID / Nude/severe combined immunodeficiency / SCID due to FOXN1 deficiency / Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome / Winged helix deficiency", "OMIM:601705": "T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY; TIDAND", "OMIM:613780": "AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7", "OMIM:617168": "AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10", "OMIM:616166": "AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9", "OMIM:132900": "AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4", "OMIM:615436": "AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8", "OMIM:614816": "LOEYS-DIETZ SYNDROME 4; LDS4", "OMIM:611788": "AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6", "OMIM:300245": "PTOSIS, HEREDITARY CONGENITAL 2; PTOS2;;", "OMIM:601549": "ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE", "OMIM:606367": "IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41", "OMIM:103420": "ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT", "OMIM:601631": "ANTERIOR SEGMENT DYSGENESIS 3; ASGD3", "OMIM:137600": "ANTERIOR SEGMENT DYSGENESIS 4; ASGD4", "OMIM:611597": "CATARACT 12, MULTIPLE TYPES; CTRCT12", "OMIM:616279": "CATARACT 43; CTRCT43", "OMIM:611391": "CATARACT 33, MULTIPLE TYPES; CTRCT33", "OMIM:609376": "CATARACT 35; CTRCT35", "OMIM:600740": "HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3", "ORPHA:169105": "Good syndrome / Thymoma-immunodeficiency syndrome", "OMIM:610623": "CATARACT 11, MULTIPLE TYPES; CTRCT11", "OMIM:212500": "CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY; CTRCT46", "OMIM:615274": "CATARACT 15, MULTIPLE TYPES; CTRCT15", "OMIM:601202": "CATARACT 24; CTRCT24", "OMIM:115650": "CATARACT 32, MULTIPLE TYPES; CTRCT32", "OMIM:115800": "CATARACT 29; CTRCT29", "OMIM:615188": "CATARACT 39, MULTIPLE TYPES; CTRCT39", "OMIM:610019": "CATARACT 18; CTRCT18", "OMIM:614422": "CATARACT 37; CTRCT37", "OMIM:615277": "CATARACT 19, MULTIPLE TYPES; CTRCT19", "OMIM:116400": "CATARACT 41; CTRCT41", "OMIM:116700": "CATARACT 13 WITH ADULT i PHENOTYPE; CTRCT13", "OMIM:115665": "CATARACT 8, MULTIPLE TYPES; CTRCT8", "OMIM:610202": "CATARACT 21, MULTIPLE TYPES; CTRCT21", "OMIM:115900": "CATARACT 42; CTRCT42", "OMIM:116300": "CATARACT 30, MULTIPLE TYPES; CTRCT30", "OMIM:616851": "CATARACT 45; CTRCT45", "OMIM:302200": "CATARACT 40; CTRCT40", "OMIM:115660": "CATARACT 7; CTRCT7", "OMIM:604307": "CATARACT 2, MULTIPLE TYPES; CTRCT2", "OMIM:116800": "CATARACT 5, MULTIPLE TYPES; CTRCT5", "OMIM:601885": "CATARACT 14, MULTIPLE TYPES; CTRCT14", "OMIM:611544": "CATARACT 17, MULTIPLE TYPES; CTRCT17", "OMIM:614691": "CATARACT 38; CTRCT38", "OMIM:610425": "CATARACT 23, MULTIPLE TYPES; CTRCT23", "OMIM:616509": "CATARACT 44; CTRCT44", "OMIM:605387": "CATARACT 31, MULTIPLE TYPES; CTRCT31", "OMIM:609741": "CATARACT 22, MULTIPLE TYPES; CTRCT22", "OMIM:116600": "CATARACT 6, MULTIPLE TYPES; CTRCT6", "OMIM:600881": "CATARACT 10, MULTIPLE TYPES; CTRCT10", "OMIM:221900": "PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR", "OMIM:200400": "ACHALASIA, FAMILIAL ESOPHAGEAL", "OMIM:616026": "FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4", "OMIM:600785": "VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR; VDDR2B", "OMIM:263520": "SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6", "OMIM:615503": "SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8", "OMIM:612847": "BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4", "OMIM:271600": "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE", "OMIM:184100": "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT", "OMIM:313400": "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT", "OMIM:174200": "POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1", "OMIM:263450": "POLYDACTYLY, POSTAXIAL, TYPE A5; PAPA5", "OMIM:615226": "POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6", "OMIM:618498": "POLYDACTYLY, POSTAXIAL, TYPE A10; PAPA10", "OMIM:602085": "POLYDACTYLY, POSTAXIAL, TYPE A2; PAPA2", "OMIM:618219": "POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9", "OMIM:607095": "ANAUXETIC DYSPLASIA 1; ANXD1", "OMIM:617396": "ANAUXETIC DYSPLASIA 2; ANXD2", "OMIM:618395": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3; SEMDJL3", "OMIM:613382": "BRACHYDACTYLY, TYPE E2; BDE2", "OMIM:615072": "BRACHYDACTYLY, TYPE A1, C; BDA1C", "OMIM:616849": "BRACHYDACTYLY, TYPE A1, D; BDA1D", "OMIM:607004": "BRACHYDACTYLY, TYPE A1, B; BDA1B", "OMIM:617405": "SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17", "ORPHA:169154": "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency / T-B+ SCID due to IL-7Ralpha deficiency", "OMIM:615670": "SCHWANNOMATOSIS 2; SWN2", "OMIM:162260": "NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A", "OMIM:612076": "HYPOURICEMIA, RENAL, 2; RHUC2", "OMIM:242050": "HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY", "OMIM:307830": "HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION", "OMIM:601992": "FRIEDREICH ATAXIA 2; FRDA2", "OMIM:300652": "ANGIOMA SERPIGINOSUM, X-LINKED", "OMIM:106050": "ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT", "OMIM:613986": "PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6", "OMIM:102400": "ACROOSTEOLYSIS", "OMIM:146450": "HYPOSPADIAS 3, AUTOSOMAL; HYSP3", "OMIM:300758": "HYPOSPADIAS 2, X-LINKED; HYSP2", "OMIM:300633": "HYPOSPADIAS 1, X-LINKED; HYSP1", "OMIM:225250": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5", "OMIM:218700": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2", "OMIM:607200": "THYROID DYSHORMONOGENESIS 6; TDH6", "OMIM:274900": "THYROID DYSHORMONOGENESIS 5; TDH5", "OMIM:274800": "THYROID DYSHORMONOGENESIS 4; TDH4", "ORPHA:169160": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta / T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta", "OMIM:274700": "THYROID DYSHORMONOGENESIS 3; TDH3", "OMIM:274500": "THYROID DYSHORMONOGENESIS 2A; TDH2A", "OMIM:300943": "PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2", "OMIM:614213": "NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C", "OMIM:201300": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A", "OMIM:613115": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B", "OMIM:614707": "BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2", "OMIM:211500": "FAZIO-LONDE DISEASE", "OMIM:211530": "BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1", "OMIM:600332": "RIPPLING MUSCLE DISEASE 1; RMD1", "OMIM:300718": "REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET; RBMX1B", "OMIM:300717": "REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A", "OMIM:615297": "ADAMS-OLIVER SYNDROME 4; AOS4", "OMIM:616028": "ADAMS-OLIVER SYNDROME 5; AOS5", "OMIM:614814": "ADAMS-OLIVER SYNDROME 3; AOS3", "OMIM:616589": "ADAMS-OLIVER SYNDROME 6; AOS6", "OMIM:614219": "ADAMS-OLIVER SYNDROME 2; AOS2", "OMIM:607473": "VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2", "OMIM:216820": "COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE", "ORPHA:169186": "Autosomal recessive centronuclear myopathy / AR-CNM", "OMIM:120200": "MICROPHTHALMIA/COLOBOMA 12; MCOPCB12", "OMIM:608908": "MYOPIA 6; MYP6", "OMIM:614292": "MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD", "OMIM:615431": "MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23", "OMIM:610708": "OPTIC ATROPHY 5; OPA5", "OMIM:617302": "OPTIC ATROPHY 11; OPA11", "OMIM:258500": "OPTIC ATROPHY 6; OPA6", "OMIM:616732": "OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; OPA10", "OMIM:616289": "OPTIC ATROPHY 9; OPA9", "ORPHA:169189": "Autosomal dominant centronuclear myopathy/Myopathy, centronuclear, autosomal dominant / AD-CNM", "OMIM:160150": "MYOPATHY, CENTRONUCLEAR, 1; CNM1", "OMIM:614430": "ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4", "OMIM:614474": "ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5", "OMIM:615779": "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4", "OMIM:606217": "ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2", "OMIM:610353": "EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4", "OMIM:600513": "EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1", "OMIM:615005": "EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5", "OMIM:603204": "EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2", "OMIM:605375": "EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3", "ORPHA:1692": "Mosaic trisomy 1 / Mosaic trisomy 1 syndrome / Mosaic trisomy chromosome 1 / Trisomy 1 mosaicism", "OMIM:611031": "EPISODIC KINESIGENIC DYSKINESIA 2; EKD2", "OMIM:611147": "PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2", "OMIM:611631": "EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4", "OMIM:604364": "EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1", "OMIM:617118": "EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3", "OMIM:617116": "EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2", "OMIM:263000": "INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP", "OMIM:615631": "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B", "OMIM:618185": "PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8", "OMIM:159050": "MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES", "OMIM:618197": "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23", "OMIM:618323": "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC; CMS25", "OMIM:139393": "GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS", "OMIM:615145": "MICROPHTHALMIA/COLOBOMA 9; MCOPCB9", "OMIM:616428": "MICROPHTHALMIA/COLOBOMA 10; MCOPCB10", "OMIM:614497": "MICROPHTHALMIA/COLOBOMA 7; MCOPCB7", "OMIM:251505": "MICROPHTHALMIA/COLOBOMA 4; MCOPCB4", "OMIM:610092": "MICROPHTHALMIA/COLOBOMA 3; MCOPCB3", "OMIM:613703": "MICROPHTHALMIA/COLOBOMA 6; MCOPCB6", "OMIM:611638": "MICROPHTHALMIA/COLOBOMA 5; MCOPCB5", "OMIM:608471": "CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A", "OMIM:618031": "CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4", "OMIM:609141": "CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3", "OMIM:609140": "CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2", "OMIM:136800": "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1", "OMIM:610158": "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2", "OMIM:613270": "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6", "OMIM:615523": "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8", "OMIM:613267": "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3", "OMIM:613268": "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4", "OMIM:600975": "GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B", "OMIM:617272": "GLAUCOMA 3, PRIMARY CONGENITAL, E; GLC3E", "OMIM:613086": "GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D", "OMIM:610535": "GLAUCOMA 1, OPEN ANGLE, M; GLC1M", "OMIM:137750": "GLAUCOMA 1, OPEN ANGLE, A; GLC1A", "OMIM:618415": "CATARACT 48; CTRCT48", "OMIM:616151": "MACULAR DYSTROPHY, VITELLIFORM, 4; VMD4", "OMIM:153840": "MACULAR DYSTROPHY, VITELLIFORM, 1; VMD1", "OMIM:616152": "MACULAR DYSTROPHY, VITELLIFORM, 5; VMD5", "OMIM:169150": "MACULAR DYSTROPHY, PATTERNED, 1; MDPT1", "OMIM:608970": "MACULAR DYSTROPHY, PATTERNED, 2; MDPT2", "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; RDEOA", "OMIM:300073": "FETAL AKINESIA SYNDROME, X-LINKED", "OMIM:618393": "FETAL AKINESIA DEFORMATION SEQUENCE 4; FADS4", "OMIM:500001": "LEBER OPTIC ATROPHY AND DYSTONIA", "OMIM:119570": "CLEFT SOFT PALATE", "OMIM:600348": "BAND HETEROTOPIA; BH", "OMIM:612300": "HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY; HACD59", "OMIM:604625": "TOOTH AGENESIS, SELECTIVE, 3; STHAG3", "OMIM:616724": "TOOTH AGENESIS, SELECTIVE, 7; STHAG7", "OMIM:313500": "TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1", "OMIM:106600": "TOOTH AGENESIS, SELECTIVE, 1; STHAG1", "OMIM:617073": "TOOTH AGENESIS, SELECTIVE, 8; STHAG8", "OMIM:150400": "TOOTH AGENESIS, SELECTIVE, 4; STHAG4", "OMIM:550500": "MYOGLOBINURIA, RECURRENT", "OMIM:268200": "MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE", "OMIM:613912": "COMPLEMENT FACTOR D DEFICIENCY; CFDD", "OMIM:274230": "THYMOMA, FAMILIAL", "OMIM:145000": "HYPERPARATHYROIDISM 1; HRPT1", "OMIM:600166": "HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA", "OMIM:617343": "HYPERPARATHYROIDISM 4; HRPT4", "OMIM:145001": "HYPERPARATHYROIDISM 2 WITH JAW TUMORS; HRPT2", "OMIM:610582": "DIABETES MELLITUS, TRANSIENT NEONATAL, 3; TNDM3", "OMIM:610374": "DIABETES MELLITUS, TRANSIENT NEONATAL, 2; TNDM2", "OMIM:145300": "HYPERSENSITIVITY PNEUMONITIS, FAMILIAL", "OMIM:610048": "CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD", "ORPHA:1695": "Non-distal trisomy 10q / Non-distal duplication 10q syndrome / Non-telomeric trisomy 10q", "OMIM:235500": "HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN", "OMIM:614266": "BARRETT ESOPHAGUS", "OMIM:133239": "ESOPHAGEAL CANCER", "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 ACIDURIA; BAIBA", "OMIM:163600": "NIPPLES INVERTED", "OMIM:615763": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5", "OMIM:177650": "EXFOLIATION SYNDROME; XFS", "OMIM:617935": "EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4", "OMIM:607539": "CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD", "OMIM:618460": "KHAN-KHAN-KATSANIS SYNDROME; 3KS", "OMIM:264120": "PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES", "OMIM:181800": "SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1; IS1", "OMIM:207000": "ANOSMIA FOR ISOBUTYRIC ACID", "OMIM:611465": "GALLBLADDER DISEASE 4; GBD4", "OMIM:615771": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6", "OMIM:617006": "AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2", "OMIM:273680": "THANATOPHORIC DYSPLASIA, GLASGOW VARIANT", "OMIM:609259": "MYOPIA 10; MYP10", "OMIM:271109": "SPINAL MUSCULAR ATROPHY WITH IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:614195": "CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS", "OMIM:263610": "POLYHYDRAMNIOS, CHRONIC IDIOPATHIC", "OMIM:603075": "MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1", "OMIM:140700": "HEINZ BODY ANEMIAS", "OMIM:187750": "THORACIC DYSOSTOSIS, ISOLATED", "OMIM:126320": "DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE", "OMIM:192700": "VENULAR INSUFFICIENCY, SYSTEMIC", "OMIM:602134": "TREMOR, HEREDITARY ESSENTIAL, 2; ETM2", "OMIM:225700": "ENCEPHALOMALACIA, MULTILOCULAR", "OMIM:614501": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES; NEDHCS", "OMIM:206300": "ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE", "OMIM:204900": "AMYLOIDOSIS, CUTANEOUS BULLOUS", "OMIM:608089": "ENDOMETRIAL CANCER", "OMIM:606220": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS; IDDSFAS", "OMIM:618454": "DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; DEDDFA", "OMIM:600593": "CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA", "OMIM:609944": "ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES", "OMIM:612310": "PREMATURE OVARIAN FAILURE 6; POF6", "OMIM:618142": "MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME; MFRG", "OMIM:617308": "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6", "OMIM:616763": "LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD", "OMIM:164100": "NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2", "OMIM:613603": "CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME", "OMIM:233600": "IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA; IMD59", "OMIM:617180": "CHITAYAT SYNDROME; CHYTS", "OMIM:617306": "COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD", "OMIM:600335": "SUCCINIC ACIDEMIA", "OMIM:121070": "ARTHROGRYPOSIS, DISTAL, TYPE 2E", "OMIM:236300": "HOOFT DISEASE", "OMIM:612348": "THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR; THPH9", "OMIM:617439": "CRANIOSYNOSTOSIS 7; CRS7", "OMIM:170900": "PERNICIOUS ANEMIA", "OMIM:310470": "NEUROPATHY, HEREDITARY SENSORY, X-LINKED", "OMIM:120500": "COMMISSURAL LIP PITS", "OMIM:618505": "STOLERMAN NEURODEVELOPMENTAL SYNDROME; NEDSST", "OMIM:609616": "SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, 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; NFRCD", "OMIM:600202": "DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2", "OMIM:218200": "CRANIAL NERVES, RECURRENT PARESIS OF", "OMIM:145100": "HYPERPIGMENTATION OF EYELIDS", "OMIM:618254": "CILIARY DYSKINESIA, PRIMARY, 39; CILD39", "OMIM:617757": "JOUBERT SYNDROME 32; JBTS32", "OMIM:618143": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95; DEE95", "OMIM:616345": "IMMUNODEFICIENCY 39; IMD39", "OMIM:618065": "PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D", "OMIM:613873": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17", "OMIM:617532": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF", "OMIM:265950": "PYLORIC ATRESIA", "OMIM:121390": "CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS", "OMIM:615946": "MYOPIA 24, AUTOSOMAL DOMINANT; MYP24", "OMIM:300209": "SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2", "OMIM:153470": "MACROCEPHALY, BENIGN FAMILIAL", "OMIM:617767": "JOUBERT SYNDROME 33; JBTS33", "ORPHA:101070": "Bilateral frontoparietal polymicrogyria/Polymicrogyria, bilateral frontoparietal", "OMIM:606854": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A (BILATERAL FRONTOPARIETAL); CDCBM14A", "OMIM:617796": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52; MRD52", "OMIM:611376": "MUNGAN SYNDROME; MGS", "OMIM:607488": "DYSTONIA 15, MYOCLONIC; DYT15", "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 / Trisomy 12p syndrome / Duplication 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; EDM7", "OMIM:610382": "PROSOPAGNOSIA, HEREDITARY", "OMIM:618180": "ECTODERMAL DYSPLASIA 14, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD14", "OMIM:251230": "MICROCEPHALY-MICROMELIA SYNDROME; MIMIS", "OMIM:136570": "CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB", "OMIM:147430": "MARSILI SYNDROME; MARSIS", "OMIM:617182": "LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA; LDMLS2", "ORPHA:17": "Fatal infantile lactic acidosis with methylmalonic aciduria/Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)", "OMIM:245400": "MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9", "OMIM:189490": "MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA", "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": "VERTIGO, BENIGN RECURRENT; BRV", "OMIM:609808": "HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS", "OMIM:616818": "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3; IGAN3", "ORPHA:170": "Woolly hair/Woolly hair, autosomal dominant / Familial woolly hair syndrome / Familial wooly hair syndrome / Hereditary woolly hair syndrome / Hereditary wooly hair syndrome / Wooly hair", "OMIM:194300": "WOOLLY HAIR, AUTOSOMAL DOMINANT; ADWH", "OMIM:618358": "CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2", "OMIM:618369": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27", "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; WPW", "OMIM:152420": "LITHIUM TRANSPORT", "OMIM:618328": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71; DEE71", "OMIM:612227": "DIABETES MELLITUS, KETOSIS-PRONE; KPD", "ORPHA:1702": "Non-distal trisomy 13q / Non-distal duplication 13q syndrome / Non-telomeric trisomy 13q", "OMIM:616459": "AL-RAQAD SYNDROME; ARS", "OMIM:177900": "PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1", "OMIM:129750": "ECTOPIA PUPILLAE", "OMIM:275370": "TRICARBOXYLIC ACID CYCLE, DEFECT OF", "OMIM:616351": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SPEECH DELAY, AND DYSMORPHIC FACIES; NEDHSF", "OMIM:153890": "MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE", "OMIM:306300": "GRANULOMAS, CONGENITAL CEREBRAL", "OMIM:300659": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93; XLID93", "ORPHA:1703": "Mosaic trisomy 14 / Mosaic trisomy 14 syndrome / Mosaic trisomy chromosome 14 / Trisomy 14 mosaicism", "OMIM:616896": "MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14", "OMIM:617223": "SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI", "OMIM:618284": "MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS", "OMIM:275000": "GRAVES DISEASE; GRD", "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; DLB", "ORPHA:1705": "Distal trisomy 14q / Distal duplication 14q syndrome / Telomeric duplication 14q / Trisomy 14qter", "OMIM:272000": "SUCROSURIA, HIATUS HERNIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:608638": "ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1", "OMIM:608118": "ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD", "OMIM:613659": "GASTRIC CANCER", "OMIM:601608": "SPASTIC PARAPLEGIA AND EVANS SYNDROME", "OMIM:613005": "SANTOS SYNDROME", "OMIM:618527": "ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES; IKSHD", "OMIM:618287": "AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3; AIFBL3", "ORPHA:1706": "Mosaic trisomy 15 / Mosaic trisomy 15 syndrome / Mosaic trisomy chromosome 15 / Trisomy 15 mosaicism", "OMIM:617931": "Spinocerebellar ataxia 47", "OMIM:260970": "PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN", "OMIM:618282": "HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; HIES3", "OMIM:235750": "HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT", "OMIM:143465": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD", "OMIM:617087": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B", "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; NDAGSCW", "ORPHA:1707": "Distal trisomy 15q / Distal duplication 15q syndrome / Telomeric duplication 15q / Trisomy 15qter", "OMIM:126900": "DUPUYTREN CONTRACTURE", "OMIM:249670": "MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION", "OMIM:618440": "OCULOSKELETODENTAL SYNDROME; OCSKD", "OMIM:125853": "TYPE 2 DIABETES MELLITUS; T2D", "OMIM:238340": "HYPERLEUCINE-ISOLEUCINEMIA", "OMIM:618283": "VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB", "OMIM:158400": "MUSCLE CRAMPS, FAMILIAL", "OMIM:617898": "MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4", "OMIM:251280": "DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1", "OMIM:617877": "SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1; SSFSC1", "OMIM:602080": "PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2", "OMIM:107650": "APNEA, OBSTRUCTIVE SLEEP", "OMIM:147540": "INSECT STINGS, HYPERSENSITIVITY TO", "OMIM:611284": "DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD", "OMIM:123320": "CREATINE PHOSPHOKINASE, ELEVATED SERUM", "ORPHA:171": "Primary sclerosing cholangitis / PSC", "OMIM:606895": "SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH", "OMIM:157400": "MILIA, MULTIPLE ERUPTIVE; MEM", "OMIM:107640": "APNEA, CENTRAL SLEEP", "OMIM:606528": "HOMOZYGOUS 11p15-p14 DELETION SYNDROME", "OMIM:618285": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69; DEE69", "OMIM:137040": "GALLBLADDER, AGENESIS OF", "OMIM:184700": "POLYCYSTIC OVARY SYNDROME 1; PCOS1", "OMIM:300989": "MEESTER-LOEYS SYNDROME; MRLS", "OMIM:612917": "GIACHETI SYNDROME", "OMIM:126840": "DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION", "OMIM:617027": "HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4", "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 1; DAZ1", "OMIM:186750": "TALONAVICULAR COALITION", "OMIM:616948": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22", "OMIM:617602": "CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM", "OMIM:618160": "PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7; CPHD7", "OMIM:120300": "COLOBOMA OF MACULA", "OMIM:136580": "FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1); FRA16B", "OMIM:204800": "AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF", "OMIM:614728": "SECKEL SYNDROME 6; SCKL6", "OMIM:617921": "AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25; ALS25", "OMIM:617018": "SPINOCEREBELLAR ATAXIA 43; SCA43", "OMIM:164800": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5; NDNC5", "OMIM:600858": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6", "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", "OMIM:600263": "HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO", "OMIM:179650": "RED CELL PERMEABILITY DEFECT", "OMIM:618501": "CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY; CASVDD", "OMIM:618067": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66; DEE66", "OMIM:209600": "ATRIOVENTRICULAR DISSOCIATION", "OMIM:618096": "PREMATURE OVARIAN FAILURE 15; POF15", "OMIM:618158": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD", "OMIM:425500": "HAIRY EARS, Y-LINKED", "OMIM:617441": "THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS; THAMY", "OMIM:163100": "NEVUS FLAMMEUS OF NAPE OF NECK", "OMIM:147892": "DEIODINASE, IODOTHYRONINE, TYPE I; DIO1", "OMIM:255500": "MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18", "OMIM:257400": "NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE; NYS8", "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; NPHS15", "OMIM:300807": "THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8", "OMIM:617752": "CLARK-BARAITSER SYNDROME; CLABARS", "ORPHA:1713": "17p11.2 microduplication syndrome/Potocki-Lupski syndrome / Trisomy 17p11.2", "OMIM:610883": "POTOCKI-LUPSKI SYNDROME; PTLS", "OMIM:233270": "GOMBO SYNDROME", "OMIM:169000": "PATELLA, FAMILIAL RECURRENT DISLOCATION OF", "OMIM:617056": "TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 5; ADTKD5", "OMIM:108700": "ATAXIA WITH FASCICULATIONS", "OMIM:615612": "DEVELOPMENTAL DYSPLASIA OF THE HIP 2; DDH2", "OMIM:617983": "MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE; MCPH21", "OMIM:617711": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91; DEE91", "OMIM:259650": "OSTEOMA OF MIDDLE EAR", "OMIM:277150": "VAN BOGAERT-HOZAY SYNDROME", "OMIM:617432": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60; MRT60", "ORPHA:171430": "Severe congenital nemaline myopathy", "OMIM:100700": "ACHARD SYNDROME", "OMIM:614227": "HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3", "OMIM:127100": "DWARFISM, LEVI TYPE", "OMIM:191600": "URETER, CANCER OF", "OMIM:600257": "CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME", "OMIM:608984": "ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1", "OMIM:123557": "CRYPTOTIA, FAMILIAL", "OMIM:615412": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4", "OMIM:616407": "BROWN SYNDROME; BRWNS", "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; HMSN6C", "OMIM:131400": "EOSINOPHILIA, FAMILIAL", "OMIM:605462": "BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1", "OMIM:601811": "PREMATURE AGING SYNDROME, OKAMOTO TYPE", "OMIM:618371": "TURNPENNY-FRY SYNDROME; TPFS", "OMIM:260450": "Pancreatic insufficiency, combined exocrine", "OMIM:276100": "TRYPTOPHANURIA WITH DWARFISM", "OMIM:191650": "URETEROCELE", "ORPHA:171436": "Typical nemaline myopathy", "OMIM:212790": "PREMATURE CENTROMERE DIVISION; PCD", "OMIM:273390": "TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES", "OMIM:612885": "PREMATURE OVARIAN FAILURE 10; POF10", "OMIM:609257": "MYOPIA 8; MYP8", "OMIM:130700": "EMPHYSEMA, HEREDITARY PULMONARY", "OMIM:125600": "DERMATOSIS PAPULOSA NIGRA", "OMIM:617236": "CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1", "OMIM:617643": "CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS", "ORPHA:101075": "X-linked Charcot-Marie-Tooth disease type 1/Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 / CMT1X / CMTX1", "OMIM:302800": "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1", "ORPHA:171439": "Childhood-onset nemaline myopathy / Mild nemaline myopathy", "OMIM:272450": "SYNDESMODYSPLASIC DWARFISM", "OMIM:139630": "HAIRY NOSE TIP", "OMIM:606053": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY; IDDAS", "OMIM:215050": "CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS", "OMIM:618076": "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG", "OMIM:136600": "FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS", "OMIM:612717": "MYOPIA 15, AUTOSOMAL DOMINANT; MYP15", "OMIM:114500": "COLORECTAL CANCER; CRC", "ORPHA:171442": "Adult-onset nemaline myopathy", "OMIM:613243": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13", "OMIM:617145": "NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP", "OMIM:117850": "CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS", "OMIM:159500": "MYELINATED OPTIC NERVE FIBERS", "OMIM:187000": "TEETH, ODD SHAPES OF", "OMIM:616833": "PAGET DISEASE OF BONE 6; PDB6", "OMIM:600987": "CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CPCMR", "OMIM:615724": "PREMATURE OVARIAN FAILURE 9; POF9", "OMIM:186575": "SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM", "OMIM:609524": "MYOPATHY, MYOFIBRILLAR, 5; MFM5", "OMIM:212890": "CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA", "OMIM:613671": "IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS", "OMIM:610279": "PACHYGYRIA, FRONTOTEMPORAL", "OMIM:300997": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106; XLID106", "OMIM:166740": "OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES", "OMIM:605388": "CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE", "OMIM:601344": "SPINAL DYSPLASIA, ANHALT TYPE", "ORPHA:1715": "Trisomy 18p / Trisomy 18p syndrome / Duplication 18p / Duplication of the short arm of chromosome 18 / Trisomy of the short arm of chromosome 18", "OMIM:606798": "BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO", "OMIM:618496": "AORTIC VALVE DISEASE 3; AOVD3", "OMIM:118750": "CHOREOATHETOSIS, FAMILIAL INVERTED", "OMIM:616981": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37; DEE37", "OMIM:185200": "STRIAE DISTENSAE, FAMILIAL", "OMIM:617321": "YAO SYNDROME; YAOS", "OMIM:194320": "WORONETS TRAIT", "OMIM:617478": "STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME; SHDRA", "ORPHA:1716": "Distal trisomy 18q / Distal duplication 18q syndrome / Telomeric duplication 18q / Trisomy 18qter", "OMIM:182970": "SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE", "OMIM:171450": "PHLEBECTASIA OF LIPS", "OMIM:602068": "LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO", "OMIM:616170": "MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT; CCMD", "OMIM:176780": "PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO", "OMIM:113301": "BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II", "OMIM:616045": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22", "OMIM:609258": "MYOPIA 9; MYP9", "ORPHA:171607": "X-linked spastic paraplegia type 34/Spastic paraplegia 34, X-linked / SPG34", "OMIM:300750": "SPASTIC PARAPLEGIA 34, X-LINKED; SPG34", "OMIM:602723": "PSORIASIS 2; PSORS2", "OMIM:618170": "NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS", "OMIM:612354": "INFLAMMATORY BOWEL DISEASE 21; IBD21", "OMIM:618329": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37", "OMIM:171420": "PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME", "OMIM:177700": "GLAUCOMA 1, OPEN ANGLE, P; GLC1P", "OMIM:103780": "ALCOHOL DEPENDENCE", "ORPHA:171612": "Autosomal dominant spastic paraplegia type 37/Spastic paraplegia 37, autosomal dominant / SPG37", "OMIM:611945": "SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37", "OMIM:606242": "KONDOH SYNDROME", "OMIM:616733": "COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8", "OMIM:231630": "MONOSODIUM GLUTAMATE SENSITIVITY", "OMIM:151500": "LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF", "OMIM:618182": "ORTHOSTATIC HYPOTENSION 2; ORTHYP2", "OMIM:618386": "AMELOGENESIS IMPERFECTA, TYPE IIIC; AI3C", "OMIM:137500": "GIANT NEUTROPHIL LEUKOCYTES", "OMIM:236450": "HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME", "ORPHA:171617": "Autosomal dominant spastic paraplegia type 38/Spastic paraplegia 38, autosomal dominant / SPG38", "OMIM:612335": "SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38", "OMIM:618091": "SPERMATOGENIC FAILURE 29; SPGF29", "OMIM:600757": "OROFACIAL CLEFT 3; OFC3", "OMIM:188050": "THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1", "OMIM:618453": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES; IDDSSA", "OMIM:618187": "OVARIAN DYSGENESIS 8; ODG8", "OMIM:612124": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12", "OMIM:272120": "SUDDEN INFANT DEATH SYNDROME", "OMIM:310700": "NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1", "OMIM:615554": "MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB", "OMIM:618346": "MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS; MIGSB", "ORPHA:171622": "Autosomal recessive spastic paraplegia type 32/Spastic paraplegia 32, autosomal recessive / SPG32", "OMIM:611252": "SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32", "OMIM:607944": "SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI", "OMIM:183500": "SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA", "OMIM:192310": "VASCULITIS, LYMPHOCYTIC, NODULAR", "OMIM:157950": "PERMANENT MOLARS, SECONDARY RETENTION OF", "OMIM:618010": "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17", "OMIM:601372": "CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT", "OMIM:258660": "NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO; NAION", "OMIM:617783": "NEPHROTIC SYNDROME, TYPE 16; NPHS16", "ORPHA:171629": "Autosomal recessive spastic paraplegia type 35/Spastic paraplegia 35, autosomal recessive / SPG35", "OMIM:612319": "SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION; SPG35", "OMIM:618291": "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT; SMALED2B", "OMIM:617392": "ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13", "OMIM:617950": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36", "OMIM:261500": "EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD", "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 / CMTX2", "OMIM:302801": "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2", "OMIM:175505": "Polyposis of gastric fundus without polyposis coli", "OMIM:600501": "ABCD SYNDROME; ABCDS", "OMIM:617563": "OROFACIODIGITAL SYNDROME XVI; OFD16", "OMIM:602477": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17; EIG17", "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; DEE57", "OMIM:618280": "CARDIAC-UROGENITAL SYNDROME; CUGS", "OMIM:618331": "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS; PEERB", "OMIM:251700": "MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES", "OMIM:614676": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21; CMH21", "OMIM:616503": "LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9", "OMIM:137580": "GILLES DE LA TOURETTE SYNDROME; GTS", "OMIM:618459": "IMMUNODEFICIENCY 62; IMD62", "OMIM:262710": "PITUITARY DWARFISM WITH LARGE SELLA TURCICA", "OMIM:193520": "WATSON SYNDROME; WTSN", "OMIM:618412": "GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE; GDPAG", "OMIM:107550": "AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA", "ORPHA:171680": "Lissencephaly due to TUBA1A mutation/Lissencephaly 3", "OMIM:611603": "LISSENCEPHALY 3; LIS3", "OMIM:229500": "FRUCTOSE AND GALACTOSE INTOLERANCE", "OMIM:259270": "OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI", "OMIM:617690": "OVARIAN DYSGENESIS 5; ODG5", "OMIM:618416": "METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION; MECREN", "OMIM:311000": "OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM", "OMIM:119530": "OROFACIAL CLEFT 1; OFC1", "OMIM:608244": "OTOSCLEROSIS 3; OTSC3", "OMIM:305690": "GENITOURINARY TRACT ANOMALIES", "OMIM:132990": "ERYTHEMA NODOSUM, FAMILIAL", "OMIM:618546": "TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE; TTD7", "OMIM:617788": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51; MRD51", "OMIM:614101": "PLASMA FIBRONECTIN DEFICIENCY", "OMIM:613765": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9", "OMIM:618336": "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY; IMAGEI", "OMIM:617270": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58; MRT58", "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; ACLH", "OMIM:245340": "ERYTHROCYTE LACTATE TRANSPORTER DEFECT", "OMIM:114600": "CANINE TEETH, ABSENCE OF UPPER PERMANENT", "OMIM:618462": "BLEEDING DISORDER, PLATELET-TYPE, 22; BDPLT22", "OMIM:191200": "TUNE DEAFNESS", "OMIM:618419": "MYOECTODERMAL GONADAL DYSGENESIS SYNDROME; MEGD", "OMIM:223350": "DOHLE BODIES AND LEUKEMIA", "OMIM:603776": "HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3", "OMIM:150699": "LEIOMYOMA, UTERINE; UL", "OMIM:617050": "HERMANSKY-PUDLAK SYNDROME 10; HPS10", "OMIM:618400": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE; CMT2EE", "OMIM:308750": "KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA", "ORPHA:171695": "Parkinsonian-pyramidal syndrome/Parkinson disease 15, autosomal recessive early-onset / Pallidopyramidal syndrome", "OMIM:260300": "PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "OMIM:300577": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 91; XLID91", "OMIM:611706": "MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12; MGR12", "OMIM:158345": "MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS", "OMIM:609256": "MYOPIA 7; MYP7", "OMIM:618276": "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY; CONDCA", "OMIM:606631": "CAMURATI-ENGELMANN DISEASE, TYPE 2", "OMIM:129840": "EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL", "OMIM:617235": "MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY", "OMIM:310095": "MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL", "OMIM:148200": "KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH", "OMIM:601341": "ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC", "OMIM:143400": "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2; CAKUT2", "OMIM:616685": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14", "OMIM:238350": "HYPERLEXIA", "OMIM:602418": "WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME", "OMIM:606712": "SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2", "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; NEDNEH", "OMIM:618512": "O'DONNELL-LURIA-RODAN SYNDROME; ODLURO", "OMIM:178651": "PULMONIC STENOSIS AND DEAFNESS", "OMIM:226500": "EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA", "OMIM:613282": "FATTY LIVER DISEASE, SUSCEPTIBILITY TO, 1; FLD1", "OMIM:617052": "BONE MARROW FAILURE SYNDROME 3; BMFS3", "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; CAKUT3", "OMIM:614034": "HEME OXYGENASE 1 DEFICIENCY; HMOX1D", "OMIM:606688": "SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES", "OMIM:146720": "ICHTHYOSIS--CHEEK--EYEBROW SYNDROME", "OMIM:140300": "HASHIMOTO THYROIDITIS; HT", "OMIM:140500": "HEART, MALFORMATION OF", "OMIM:614278": "PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY; PAFAD", "OMIM:236130": "HOMOCARNOSINOSIS", "ORPHA:171706": "Short stature-delayed bone age due to thyroid hormone metabolism deficiency/Thyroid hormone metabolism, abnormal", "OMIM:609698": "THYROID HORMONE METABOLISM, ABNORMAL, 1; THMA1", "OMIM:613255": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15", "OMIM:613124": "HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHISM", "OMIM:128500": "EAR FOLDING", "OMIM:312863": "COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX", "OMIM:137760": "GLAUCOMA, PRIMARY OPEN ANGLE; POAG", "OMIM:618493": "HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES; HIDEA", "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 / CMT3X / CMTX3", "OMIM:302802": "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3", "OMIM:301022": "MULLEGAMA-KLEIN-MARTINEZ SYNDROME; MKMS", "OMIM:617480": "46,XX SEX REVERSAL 4; SRXX4", "OMIM:266140": "PYROPOIKILOCYTOSIS, HEREDITARY; HPP", "OMIM:126070": "DILUTION, PIGMENTARY", "OMIM:609223": "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE", "OMIM:108000": "ARTERIES, ANOMALIES OF", "OMIM:600511": "SCHIZOPHRENIA 3; SCZD3", "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; ARMD4", "ORPHA:171719": "Cutis laxa-Marfanoid syndrome/Cutis laxa, neonatal, with marfanoid phenotype", "OMIM:614100": "CUTIS LAXA, NEONATAL, WITH MARFANOID PHENOTYPE", "OMIM:240800": "HYPOGLYCEMIA, LEUCINE-INDUCED; LIH", "OMIM:125000": "DEAFNESS, UNILATERAL", "OMIM:301029": "SHUKLA-VERNON SYNDROME; SHUVER", "OMIM:617780": "COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH", "OMIM:617694": "AL KAISSI SYNDROME; ALKAS", "OMIM:618048": "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2", "OMIM:145590": "HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA", "OMIM:212090": "CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA", "OMIM:193900": "WHITE SPONGE NEVUS 1; WSN1", "OMIM:608049": "AUTISM, SUSCEPTIBILITY TO, 3; AUTS3", "OMIM:223500": "DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE", "OMIM:617959": "SPERMATOGENIC FAILURE 24; SPGF24", "OMIM:302803": "CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA", "OMIM:613876": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20", "OMIM:246570": "FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME", "OMIM:617933": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61; DEE61", "OMIM:617800": "MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19", "ORPHA:171829": "6q16 microdeletion syndrome / Del(6)(q16) / Monosomy 6q16 / Prader-Willi-like syndrome due to microdeletion 6q16", "OMIM:612731": "FACIOCARDIOMELIC SYNDROME", "OMIM:135580": "FIBROMUSCULAR DYSPLASIA, ARTERIAL; FMDA", "OMIM:614623": "KERATOCONUS 6; KTCN6", "OMIM:242880": "IMMUNOERYTHROMYELOID HYPOPLASIA", "OMIM:618061": "POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6", "OMIM:608758": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10", "OMIM:160300": "MYOPATHY, DISTAL, INFANTILE-ONSET", "OMIM:618316": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF", "ORPHA:171839": "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome / Berant syndrome / Capra-DeMarco syndrome / Familial scaphocephaly-radioulnar synostosis syndrome", "OMIM:257350": "NUCHAL BLEB, FAMILIAL", "OMIM:601004": "PORTAL VEIN, CAVERNOUS TRANSFORMATION OF", "OMIM:601346": "MARTINEZ-FRIAS SYNDROME", "OMIM:243110": "IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1", "OMIM:253240": "MUCUS INSPISSATION OF RESPIRATORY TRACT", "OMIM:300861": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE; MRXSCS", "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; TTM", "OMIM:260650": "PELLAGRA-LIKE SYNDROME", "OMIM:300602": "Clark-Baraitser syndrome", "OMIM:142690": "ACNE INVERSA, FAMILIAL, 1; ACNINV1", "OMIM:112370": "BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY", "OMIM:612674": "POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC", "OMIM:617928": "KERATOCONUS 9; KTCN9", "OMIM:614782": "TREMOR, HEREDITARY ESSENTIAL, 4; ETM4", "OMIM:601466": "PATENT DUCTUS VENOSUS; PDV", "OMIM:615789": "ROTHMUND-THOMSON SYNDROME, TYPE 3; RTS3", "OMIM:202600": "AGENESIS OF CEREBRAL WHITE MATTER", "OMIM:169200": "PECHET FACTOR DEFICIENCY", "OMIM:227150": "ETHANOLAMINOSIS", "OMIM:617787": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES; MRD50", "ORPHA:171851": "MEDNIK syndrome/Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma / Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome / Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome", "OMIM:609313": "MEDNIK SYNDROME; MEDNIK", "OMIM:130200": "ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON", "OMIM:254100": "MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION; MDRP", "OMIM:183100": "SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS", "OMIM:300422": "FG SYNDROME 4; FGS4", "OMIM:614164": "GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD", "OMIM:180295": "RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2", "OMIM:300676": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14; MRXS14", "OMIM:618022": "HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD", "OMIM:276200": "T-SUBSTANCE ANOMALY", "OMIM:617951": "LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15", "OMIM:258800": "ORAL SENSIBILITY, DISTURBANCE OF", "OMIM:613100": "GLAUCOMA 1, OPEN ANGLE, O; GLC1O", "OMIM:218650": "CRANIOSYNOSTOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT-CLEFTING SYNDROME", "OMIM:617954": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6", "OMIM:193005": "VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE", "OMIM:258360": "ONYCHOTRICHODYSPLASIA AND NEUTROPENIA", "OMIM:617695": "PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11", "ORPHA:101078": "X-linked Charcot-Marie-Tooth disease type 4/Cowchock syndrome / CMT4X / CMTX4", "OMIM:310490": "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4", "ORPHA:171863": "Autosomal dominant spastic paraplegia type 42/Spastic paraplegia 42, autosomal dominant / SPG42", "OMIM:612539": "SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42", "OMIM:614158": "BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14", "OMIM:608902": "DRUG METABOLISM, POOR, CYP2D6-RELATED", "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": "OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3", "OMIM:616260": "TENORIO SYNDROME; TNORS", "ORPHA:171866": "Spondyloepimetaphyseal dysplasia, aggrecan type/Spondyloepimetaphyseal dysplasia, Aggrecan type / SEMD, aggrecan type", "OMIM:612813": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE; SEMDAG", "OMIM:613944": "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2; IGAN2", "OMIM:618476": "BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS; BANDDOS", "OMIM:606963": "PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD", "OMIM:600080": "MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC", "OMIM:150550": "PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME; PFITS", "OMIM:616219": "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; CFEOM5", "OMIM:263600": "POLYSACCHARIDE, STORAGE OF UNUSUAL", "OMIM:177735": "PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A", "OMIM:128300": "EAR EXOSTOSES", "OMIM:173450": "PLATELET FACTOR 3 DEFICIENCY", "OMIM:133240": "ESOPHAGEAL RING, LOWER", "OMIM:617952": "OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18", "OMIM:209100": "ATONIC-ASTATIC SYNDROME OF FOERSTER", "OMIM:181510": "SCHIZOPHRENIA 1; SCZD1", "OMIM:617402": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C", "ORPHA:171876": "Generalized pseudohypoaldosteronism type 1/Pseudohypoaldosteronism, type I, autosomal recessive / Autosomal recessive PHA1 / Autosomal recessive pseudohypoaldosteronism type 1 / Generalized PHA1", "OMIM:264350": "PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE; PHA1B1", "OMIM:266400": "REESE RETINAL DYSPLASIA", "OMIM:609438": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK", "OMIM:128700": "PREAURICULAR FISTULAE, CONGENITAL", "OMIM:617364": "CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED", "OMIM:225310": "EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY", "OMIM:136630": "INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE", "OMIM:128290": "EAR ANTITRAGUS, TAG AT BASE OF", "OMIM:273000": "TEETH, FUSED", "ORPHA:171881": "Cap myopathy / Cap disease", "OMIM:617547": "RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS", "OMIM:618113": "ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION; MMERV", "OMIM:208060": "ARTERIOSCLEROSIS, SEVERE JUVENILE", "OMIM:617537": "RAHMAN SYNDROME; RMNS", "OMIM:185600": "SYMPHALANGISM OF TOES", "OMIM:137050": "GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF", "OMIM:616839": "EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI", "OMIM:300814": "NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6", "OMIM:241000": "HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY", "OMIM:618268": "TRICHOHEPATONEURODEVELOPMENTAL SYNDROME; THNS", "OMIM:618300": "CILIARY DYSKINESIA, PRIMARY, 40; CILD40", "OMIM:244600": "KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC", "OMIM:245552": "LAMBOTTE SYNDROME", "OMIM:616944": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41; MRD41", "OMIM:238800": "HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 1; HUMOP1", "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; AOMS1", "OMIM:617865": "NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA", "OMIM:276822": "ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS", "OMIM:617281": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49; DEE49", "OMIM:618522": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59; MRD59", "OMIM:618404": "LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18", "OMIM:121350": "CORACOCLAVICULAR JOINT, ANOMALOUS", "OMIM:609654": "SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS", "OMIM:618384": "LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE; ARLIAK", "OMIM:118005": "CERVICAL VERTEBRAL DYSPLASIA", "OMIM:617339": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51; DEE51", "OMIM:618418": "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT; SPG80", "OMIM:179500": "RAINDROP HYPOPIGMENTATION", "OMIM:219600": "POLYCYSTIC LUNG DISEASE; PCLUD", "OMIM:166970": "OVARIAN FIBROMATA", "OMIM:617184": "MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A", "OMIM:118350": "CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS", "OMIM:618381": "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME; FHEIG", "OMIM:608624": "MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA", "OMIM:190420": "TRIGLYCERIDE STORAGE DISEASE, TYPE I", "OMIM:617237": "IMMUNODEFICIENCY 49, SEVERE COMBINED; IMD49", "OMIM:601666": "TYPE 1 DIABETES MELLITUS 15; T1D15", "OMIM:611634": "FEBRILE SEIZURES, FAMILIAL, 9; FEB9", "OMIM:277730": "WERNICKE-KORSAKOFF SYNDROME", "OMIM:179700": "RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS", "OMIM:150270": "LARYNGEAL ADDUCTOR PARALYSIS; LAP", "OMIM:303800": "COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD", "OMIM:250300": "METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE", "OMIM:601331": "RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD", "OMIM:177350": "PSEUDOATROPHODERMA COLLI", "OMIM:175400": "POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE", "OMIM:617964": "LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16", "OMIM:126950": "DWARFISM WITH TALL VERTEBRAE", "ORPHA:101081": "Charcot-Marie-Tooth disease type 1A/Charcot-Marie-Tooth disease, demyelinating, type 1A / CMT1A / Microduplication 17p12", "OMIM:118220": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A", "OMIM:617772": "DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34", "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 IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:179010": "PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1", "OMIM:617425": "IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA", "OMIM:617802": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA", "OMIM:617241": "LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS", "OMIM:115196": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3", "OMIM:609887": "GLAUCOMA 1, OPEN ANGLE, G; GLC1G", "OMIM:205700": "ANEMIA, AUTOIMMUNE HEMOLYTIC", "OMIM:617412": "BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD", "OMIM:105580": "ANAL CANAL CARCINOMA", "OMIM:615561": "COMPLEMENT FACTOR B DEFICIENCY; CFBD", "OMIM:618108": "IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION; IMD57", "OMIM:617323": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 59; MRT59", "OMIM:167030": "NEPHROLITHIASIS, CALCIUM OXALATE, 1; CAON1", "OMIM:158800": "MUSCULAR DYSTROPHY, BARNES TYPE", "OMIM:610420": "PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1", "OMIM:301015": "HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED; HACXL", "OMIM:617219": "CHROMOSOME 19q13.11 DELETION SYNDROME, PROXIMAL", "OMIM:617300": "LYMPHATIC MALFORMATION 7; LMPHM7", "OMIM:107700": "APPENDICITIS, PRONENESS TO", "OMIM:191950": "URTICARIA, FAMILIAL LOCALIZED HEAT", "OMIM:115430": "CARPAL TUNNEL SYNDROME 1; CTS1", "OMIM:612278": "INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 19; IBD19", "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 IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:613606": "FORSYTHE-WAKELING SYNDROME; FWS", "OMIM:611572": "OTOSCLEROSIS 7; OTSC7", "OMIM:605572": "ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2", "OMIM:618374": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72; DEE72", "OMIM:618357": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15; EIG15", "OMIM:610797": "EPIPHYSEAL DYSPLASIA, BAUMANN TYPE", "OMIM:600670": "VARICELLA, SEVERE RECURRENT", "OMIM:618052": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27; CMH27", "OMIM:618397": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39", "OMIM:618005": "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1", "OMIM:613544": "CHROMOSOME 6q11-q14 DELETION SYNDROME", "OMIM:617985": "MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE; MCPH23", "OMIM:617709": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES; NEDMAS", "OMIM:300337": "HYPOMELANOSIS OF ITO; HMI", "OMIM:168820": "PARAOXONASE 1; PON1", "OMIM:155140": "MECKEL DIVERTICULUM", "OMIM:145290": "HYPERREFLEXIA; HRX", "OMIM:108725": "ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS", "OMIM:160750": "MYOSITIS", "OMIM:617126": "ALAZAMI-YUAN SYNDROME; ALYUS", "OMIM:125050": "DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA", "OMIM:617681": "BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2", "OMIM:601708": "SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL", "OMIM:142000": "HEMOGLOBIN--DELTA LOCUS; HBD", "OMIM:257150": "NEUTROPHIL ACTIN DYSFUNCTION; NAD", "ORPHA:1727": "22q11.2 duplication syndrome/Chromosome 22q11.2 duplication syndrome / 22q11.2 microduplication syndrome / Dup(22)(q11) / Duplication 22q11.2 / Trisomy 22q11.2", "OMIM:608363": "CHROMOSOME 22q11.2 DUPLICATION SYNDROME", "OMIM:226150": "ENTEROCOLITIS", "OMIM:252270": "MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1; M7MLS1", "OMIM:130300": "ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS", "OMIM:618378": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38", "OMIM:617333": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP", "OMIM:142700": "DEVELOPMENTAL DYSPLASIA OF THE HIP 1; DDH1", "OMIM:185650": "SYMPHALANGISM, C. S. LEWIS TYPE", "OMIM:212100": "CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS", "OMIM:618383": "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES; NEDMCB", "OMIM:144300": "HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS", "OMIM:618090": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM; NEDEHCC", "OMIM:613353": "MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN", "OMIM:262875": "PLATELET PROSTACYCLIN RECEPTOR DEFECT", "OMIM:600808": "ENURESIS, NOCTURNAL, 2; ENUR2", "OMIM:613690": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7", "OMIM:617450": "JANSEN-DE VRIES SYNDROME; JDVS", "OMIM:617561": "COHEN-GIBSON SYNDROME; COGIS", "OMIM:618060": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA", "OMIM:114900": "CARCINOID TUMORS, INTESTINAL", "OMIM:618360": "BRAIN SMALL VESSEL DISEASE 3; BSVD3", "OMIM:613938": "PARASOMNIA, SLEEPWALKING TYPE; PSMNSW", "ORPHA:1738": "Trisomy 4p / Trisomy 4p syndrome / Duplication 4p / Duplication of the short arm of chromosome 4 / Trisomy of the short arm of chromosome 4", "OMIM:106900": "ANONYCHIA-ECTRODACTYLY", "OMIM:610208": "MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10", "OMIM:618564": "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL", "OMIM:177100": "PRURITUS, HEREDITARY LOCALIZED", "OMIM:617915": "HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS", "OMIM:167900": "PAPILLOMATOSIS, CONFLUENT AND RETICULATED; CARP", "OMIM:614402": "MICROPHTHALMIA, SYNDROMIC 11; MCOPS11", "OMIM:223100": "LACTOSE INTOLERANCE, ADULT TYPE", "OMIM:609021": "PERIPHERAL CONE DYSTROPHY", "OMIM:618506": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES; IDDSDF", "ORPHA:101082": "Charcot-Marie-Tooth disease type 1B/Charcot-Marie-Tooth disease, type 1B / CMT1B", "OMIM:118200": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B", "ORPHA:174": "Metaphyseal chondrodysplasia, Schmid type/Metaphyseal chondrodysplasia, Schmid type", "OMIM:156500": "METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS", "OMIM:604519": "INFLAMMATORY BOWEL DISEASE 3; IBD3", "OMIM:617925": "SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20", "OMIM:100820": "ACHOO SYNDROME", "OMIM:617713": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33", "OMIM:190500": "TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES", "OMIM:616814": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15; OZEMA15", "OMIM:191390": "INFLAMMATORY BOWEL DISEASE 11; IBD11", "OMIM:109130": "AXIAL OSTEOMALACIA", "OMIM:188800": "TIBIAL TORSION, BILATERAL MEDIAL", "ORPHA:1742": "Trisomy 5p / Trisomy 5p syndrome / Duplication 5p / Duplication of the short arm of chromosome 5 / Trisomy of the short arm of chromosome 5", "OMIM:614629": "KERATOCONUS 7; KTCN7", "OMIM:605321": "FRONTOOCULAR SYNDROME", "OMIM:311400": "PAINE SYNDROME", "OMIM:618213": "INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE", "OMIM:271225": "Spinal muscular atrophy, type I, with congenital bone fractures", "OMIM:244100": "JUMPING FRENCHMEN OF MAINE", "OMIM:603221": "MYOPIA 3, AUTOSOMAL DOMINANT; MYP3", "OMIM:222350": "DIAMINOPENTANURIA", "OMIM:617885": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19; BMIQ19", "ORPHA:1745": "Distal trisomy 6p / Distal duplication 6p syndrome / Telomeric duplication 6p / Trisomy 6pter", "OMIM:618295": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67; MRT67", "OMIM:612198": "DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA", "OMIM:613969": "MYOPIA 19, AUTOSOMAL DOMINANT; MYP19", "OMIM:616342": "LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7", "OMIM:114065": "CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL", "OMIM:614450": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6", "OMIM:618342": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE; IDDABS", "OMIM:617268": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL", "OMIM:186850": "TARSAL COALITION", "OMIM:193250": "VOLVULUS OF MIDGUT", "OMIM:165670": "OSSIFIED EAR CARTILAGES", "OMIM:204850": "AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA WITH IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:400047": "DEAFNESS, Y-LINKED 2; DFNY2", "OMIM:183400": "SPLIT LOWER LIP", "OMIM:115000": "VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME; VACRDS", "OMIM:147350": "INCISORS, ROTATION OF UPPER CENTRAL", "OMIM:618278": "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA", "OMIM:617248": "3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8", "OMIM:617765": "IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14", "OMIM:185100": "STRABISMUS, SUSCEPTIBILITY TO", "OMIM:125852": "TYPE 1 DIABETES MELLITUS 2; T1D2", "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 / Autosomal recessive metaphyseal chondrodysplasia / Metaphyseal chondrodysplasia, McKusick type", "OMIM:250250": "CARTILAGE-HAIR HYPOPLASIA; CHH", "OMIM:613857": "OROFACIAL CLEFT 13; OFC13", "OMIM:104400": "AMELIA AND TERMINAL TRANSVERSE HEMIMELIA", "OMIM:311360": "PREMATURE OVARIAN FAILURE 1; POF1", "OMIM:601700": "SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE", "OMIM:600850": "SCHIZOPHRENIA 4; SCZD4", "OMIM:616939": "CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR", "ORPHA:1752": "Trisomy 8q / Trisomy 8q syndrome / Duplication 8q", "OMIM:300496": "AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3", "OMIM:303900": "COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP", "OMIM:260570": "IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION; IMD108", "OMIM:515000": "CHLORAMPHENICOL TOXICITY", "OMIM:202550": "AGANGLIONOSIS, TOTAL INTESTINAL", "OMIM:237550": "HYPERBILIRUBINEMIA, CONJUGATED, TYPE III", "OMIM:301014": "OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19", "OMIM:614390": "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2", "OMIM:613874": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18", "ORPHA:1756": "Caudal duplication/Caudal duplication anomaly / Dipygus / Split notochord syndrome", "OMIM:607864": "CAUDAL DUPLICATION ANOMALY", "OMIM:614055": "ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D", "OMIM:109200": "ALOPECIA, ANDROGENETIC, 1; AGA1", "OMIM:165720": "OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1", "OMIM:617721": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 9; HMND9", "OMIM:616779": "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2", "OMIM:612356": "HEPARIN COFACTOR II DEFICIENCY", "OMIM:616924": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC", "OMIM:168200": "PARAMOLAR TUBERCLE OF BOLK", "ORPHA:1757": "Fibular dimelia-diplopodia syndrome / Leg duplication-mirror foot syndrome", "OMIM:226300": "COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE", "OMIM:300604": "PREMATURE OVARIAN FAILURE 2B; POF2B", "OMIM:242890": "IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW", "OMIM:300982": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103; XLID103", "OMIM:613933": "ACETYL-CoA CARBOXYLASE-ALPHA DEFICIENCY; ACACAD", "OMIM:142400": "HERNIA, HIATUS", "OMIM:618492": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA", "OMIM:617976": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63; DEE63", "ORPHA:1759": "Thoraco-abdominal enteric duplication", "OMIM:618314": "HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 2; HOMGSMR2", "OMIM:618494": "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES; CHEDDA", "OMIM:266810": "RENAL AND MULLERIAN DUCT HYPOPLASIA", "OMIM:617516": "STANKIEWICZ-ISIDOR SYNDROME; STISS", "OMIM:618426": "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9; IIAE9", "OMIM:134430": "FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF", "OMIM:134510": "FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF; F8F9D", "OMIM:176250": "POSTERIOR COLUMN ATAXIA", "OMIM:617164": "SHORT STATURE-MICROGNATHIA SYNDROME; SSMG", "OMIM:601098": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C", "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; ETINPH", "OMIM:618014": "PREMATURE OVARIAN FAILURE 14; POF14", "OMIM:617822": "ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS", "OMIM:611694": "DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA", "OMIM:138070": "GLUCOGLYCINURIA", "ORPHA:1762": "Proximal Xq28 duplication syndrome / MECP2 duplication syndrome / X-linked intellectual disability syndrome, Lubs type", "OMIM:189150": "TOE, ROTATED FIFTH", "OMIM:618367": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION; NEDMEHM", "OMIM:617214": "SPERMATOGENIC FAILURE 17; SPGF17", "OMIM:133600": "EXOSTOSES OF HEEL", "OMIM:601356": "LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE", "OMIM:603855": "CYSTIC FIBROSIS, MODIFIER OF, 1; CFM1", "OMIM:300986": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB", "OMIM:189600": "TORTICOLLIS", "ORPHA:1764": "Familial dysautonomia/Neuropathy, hereditary sensory and autonomic, type III / HSAN3 / Hereditary sensory and autonomic neuropathy type 3 / Hereditary sensory and autonomic neuropathy type III / Riley-Day syndrome", "OMIM:223900": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3", "OMIM:145500": "HYPERTENSION, ESSENTIAL", "OMIM:617875": "POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4", "OMIM:617020": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38; DEE38", "OMIM:608751": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8", "OMIM:617633": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26", "OMIM:601477": "RIBBING DISEASE", "OMIM:106300": "SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1", "OMIM:142309": "HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN", "OMIM:314550": "VESICOURETERAL REFLUX, X-LINKED; VURX", "OMIM:113200": "BRACHYDACTYLY, TYPE D; BDD", "ORPHA:1765": "Dyschondrosteosis-nephritis syndrome / OBSOLETE: Dyschondrosteosis-nephritis syndrome", "OMIM:239900": "HYPERTROPHIC NEUROPATHY AND CATARACT", "OMIM:613887": "CATARACT 36; CTRCT36", "OMIM:247150": "LIP PRINTS", "OMIM:618341": "SPERMATOGENIC FAILURE 35; SPGF35", "OMIM:187050": "TEETH PRESENT AT BIRTH", "OMIM:126850": "DUODENAL ULCER, HYPERPEPSINOGENEMIC I", "OMIM:129150": "ECHO VIRUS 11 SENSITIVITY; E11S", "OMIM:115400": "CARPAL DISPLACEMENT", "OMIM:600510": "OCULAR PIGMENT DISPERSION WITH OR WITHOUT GLAUCOMA; OPDG", "ORPHA:1766": "Dysequilibrium syndrome/Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 / CAMRQ syndrome / Cerebellar ataxia-intellectual disability-dysequilibrium syndrome / Non-progressive cerebellar ataxia-intellectual disability syndrome / UTS / Uner Tan syndrome", "OMIM:224050": "CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1", "OMIM:617642": "POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7", "OMIM:618420": "SPERMATOGENIC FAILURE 36; SPGF36", "OMIM:131430": "EOSINOPHILOPENIA", "OMIM:145200": "HYPERPIGMENTATION OF FULDAUER AND KUIJPERS", "OMIM:601941": "TYPE 1 DIABETES MELLITUS 6; T1D6", "OMIM:158100": "MONOPHALANGY OF GREAT TOE", "OMIM:607501": "MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4", "OMIM:146700": "ICHTHYOSIS VULGARIS", "OMIM:617258": "MYOPATHY, MYOFIBRILLAR, 8; MFM8", "OMIM:607373": "AUTISM, SUSCEPTIBILITY TO, 8; AUTS8", "OMIM:618457": "DEAFNESS, AUTOSOMAL RECESSIVE 115; DFNB115", "ORPHA:177": "Rhizomelic chondrodysplasia punctata / RCDP", "OMIM:617996": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 5; OZEMA5", "OMIM:617641": "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED", "OMIM:614389": "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1", "OMIM:162700": "NEUTROPENIA, CHRONIC FAMILIAL", "OMIM:187501": "TETRALOGY OF FALLOT AND GLAUCOMA", "OMIM:192900": "VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS", "OMIM:245450": "D-LACTIC ACIDURIA WITH GOUT; DLACD", "OMIM:618317": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE; IBGC7", "ORPHA:1770": "XY type gonadal dysgenesis-associated anomalies syndrome", "OMIM:237000": "HYDROXYPROLINEMIA", "OMIM:618394": "IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60", "OMIM:617062": "OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS", "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; ASPG2", "OMIM:167000": "OVARIAN CANCER", "OMIM:165000": "OPHTHALMOPLEGIA, FAMILIAL STATIC", "OMIM:119915": "CLUSTER HEADACHE, FAMILIAL", "OMIM:614262": "ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG", "OMIM:613793": "BLOOD GROUP, CROMER SYSTEM; CROM", "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; COXPD35", "OMIM:180350": "RHEUMATOID NODULOSIS", "OMIM:617982": "VERVERI-BRADY SYNDROME; VERBRAS", "OMIM:241800": "PALLISTER-HALL-LIKE SYNDROME; PHLS", "OMIM:605019": "HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2", "OMIM:616811": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29", "OMIM:249230": "MEGAEPIPHYSEAL DWARFISM", "OMIM:178650": "PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES", "OMIM:189200": "TOES, RELATIVE LENGTH OF FIRST AND SECOND", "OMIM:607678": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D", "ORPHA:1772": "45,X/46,XY mixed gonadal dysgenesis / 45,X/46,XY MGD / 45,X0/46,XY MGD / 45,X0/46,XY mixed gonadal dysgenesis", "OMIM:617874": "POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3", "OMIM:160570": "MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS", "OMIM:145750": "HYPERTRIGLYCERIDEMIA 1; HYTG1", "OMIM:266600": "INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1", "OMIM:617638": "IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B", "OMIM:155500": "MACRODACTYLY", "ORPHA:1775": "Dyskeratosis congenita/Dyskeratosis congenita, autosomal dominant, 1 / DC / DKC / Zinsser-Engman-Cole syndrome", "OMIM:127550": "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1", "OMIM:107320": "ANTIPHOSPHOLIPID SYNDROME, FAMILIAL", "OMIM:146350": "HYPOPHOSPHATEMIC BONE DISEASE; HBD", "OMIM:618103": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64; MRT64", "OMIM:617691": "SPINOCEREBELLAR ATAXIA 44; SCA44", "OMIM:618205": "SNIJDERS BLOK-CAMPEAU SYNDROME; SNIBCPS", "OMIM:167950": "PAPILLOMATOSIS, FLORID, OF NIPPLE", "OMIM:183050": "SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY", "OMIM:609037": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE", "OMIM:177050": "PROTRUSIO ACETABULI", "ORPHA:1777": "Temtamy syndrome/Temtamy syndrome / Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome / Temtamy-Shalash syndrome", "OMIM:218340": "TEMTAMY SYNDROME; TEMTYS", "OMIM:618155": "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA", "OMIM:180360": "RHINY", "OMIM:617629": "SCHIZOPHRENIA 19; SCZD19", "OMIM:618480": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI", "OMIM:212800": "CEPHALIN LIPIDOSIS", "OMIM:617912": "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5", "OMIM:600807": "ASTHMA, SUSCEPTIBILITY TO", "OMIM:616487": "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE; EBS5D", "ORPHA:1778": "Facial dysmorphism-shawl scrotum-joint laxity syndrome / Seaver-Cassidy syndrome", "OMIM:606579": "VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1", "OMIM:615558": "HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1", "OMIM:606840": "PARASOMNIA, SLEEP BRUXISM TYPE; PSMNSB", "OMIM:178000": "PTERYGIUM OF CONJUNCTIVA AND CORNEA", "OMIM:173000": "PILONIDAL SINUS", "OMIM:262800": "PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF", "OMIM:617961": "SPERMATOGENIC FAILURE 26; SPGF26", "OMIM:187395": "CRIPTO, EGF-CFC FAMILY MEMBER; CRIPTO", "OMIM:109350": "GASTROESOPHAGEAL REFLUX; GER", "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; POF12", "OMIM:615812": "ABDOMINAL OBESITY-METABOLIC SYNDROME 3; AOMS3", "OMIM:190800": "TRISTICHIASIS", "OMIM:149300": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 2; NDNC2", "OMIM:300511": "PREMATURE OVARIAN FAILURE 2A; POF2A", "OMIM:258700": "OPTICOCOCHLEODENTATE DEGENERATION", "OMIM:610947": "CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2", "OMIM:617907": "ERYTHROCYTOSIS, FAMILIAL, 5; ECYT5", "OMIM:618443": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES; NEDBA", "OMIM:139650": "HAIRY PALMS AND SOLES", "OMIM:617820": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR", "OMIM:134400": "FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS", "OMIM:606842": "CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS", "OMIM:617574": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13; ARCI13", "OMIM:169400": "PELGER-HUET ANOMALY; PHA", "OMIM:151380": "LEUKEMIA, ACUTE MONOCYTIC", "OMIM:617238": "MYOPIA 25, AUTOSOMAL DOMINANT; MYP25", "OMIM:301030": "VAN ESCH-O'DRISCOLL SYNDROME; VEODS", "OMIM:155200": "MEDIOSTERNAL DEPIGMENTATION LINE", "OMIM:616188": "RETINAL DYSTROPHY AND OBESITY; RDOB", "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": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 100; XLID100", "OMIM:602475": "OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL", "OMIM:618387": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3", "OMIM:609255": "FEBRILE SEIZURES, FAMILIAL, 5; FEB5", "OMIM:170600": "NORMOKALEMIC PERIODIC PARALYSIS", "OMIM:600093": "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES", "OMIM:618087": "SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS; SCA42ND", "OMIM:144600": "HYPERLIPOPROTEINEMIA, TYPE IV", "OMIM:144100": "HYPERHIDROSIS, GUSTATORY; HYPRG", "OMIM:617913": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES; NEDMCR", "OMIM:618015": "PROTOPORPHYRIA, ERYTHROPOIETIC, 2; EPP2", "OMIM:308960": "LEUKEMIA, ACUTE, X-LINKED", "OMIM:171000": "PEYRONIE DISEASE", "OMIM:193003": "SPINOCEREBELLAR ATAXIA 27A; SCA27A", "OMIM:617404": "MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND IMPAIRED INTELLECTUAL DEVELOPMENT; MDCCAID", "OMIM:608404": "PLATELET GLYCOPROTEIN IV DEFICIENCY", "OMIM:257500": "OBESITY-HYPOVENTILATION SYNDROME", "OMIM:602124": "DYSTONIA 7, TORSION; DYT7", "OMIM:618470": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD", "OMIM:167600": "PALMARIS LONGUS MUSCLE, ABSENCE OF", "OMIM:617520": "MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT; MCPH18", "OMIM:163850": "NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES", "OMIM:192200": "VARICOSE VEINS", "OMIM:618003": "DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57", "OMIM:156000": "MENIERE DISEASE", "OMIM:617435": "LOPES-MACIEL-RODAN SYNDROME; LOMARS", "OMIM:614684": "HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, IMPAIRED INTELLECTUAL DEVELOPMENT, AND RECURRENT INFLAMMATORY EPISODES", "OMIM:166910": "OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS", "OMIM:158250": "NONDISJUNCTION", "OMIM:215400": "CHORDOMA, SUSCEPTIBILITY TO; CHDM", "OMIM:613913": "LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS; APLDC3", "OMIM:617911": "DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL", "OMIM:615432": "SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5", "OMIM:610805": "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1", "OMIM:166400": "OSTEOMAS OF MANDIBLE", "OMIM:618089": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES; IDDFBA", "OMIM:617596": "MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID", "OMIM:615668": "CHROMOSOME 5q12 DELETION SYNDROME", "ORPHA:1780": "Thakker-Donnai syndrome / Dysmorphism-multiple structural anomalies syndrome", "OMIM:172900": "PIGMENTED PURPURIC ERUPTION", "OMIM:176430": "PREMATURE CHROMATID SEPARATION TRAIT; PCS", "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; DDVIBA", "OMIM:617671": "HELIX SYNDROME; HELIX", "OMIM:182260": "SLIPPED FEMORAL CAPITAL EPIPHYSES", "OMIM:191500": "UNDRITZ ANOMALY", "OMIM:147050": "IgE RESPONSIVENESS, ATOPIC; IGER", "OMIM:272620": "TARDIVE DYSKINESIA", "OMIM:618148": "EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO", "OMIM:301700": "ANOSMIA, ISOLATED CONGENITAL, X-LINKED", "OMIM:618352": "CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA; CCCA", "OMIM:269630": "SECOND METATARSAL-METACARPAL SYNDROME", "OMIM:301025": "PAGANINI-MIOZZO SYNDROME; MRXSPM", "ORPHA:178029": "Central diabetes insipidus / Arginine vasopressin deficiency / CDI / Neurogenic diabetes insipidus", "OMIM:217500": "CORNEAL DYSTROPHY, BAND-SHAPED", "OMIM:617613": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5", "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; CELIAC1", "OMIM:182800": "SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS", "OMIM:618535": "ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE; ECTD15", "OMIM:618477": "URIDINE-CYTIDINEURIA; URCTU", "OMIM:618286": "MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID", "OMIM:176800": "PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF", "OMIM:617665": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56; DEE56", "OMIM:278800": "DE SANCTIS-CACCHIONE SYNDROME", "OMIM:227000": "ERYTHEMA OF ACRAL REGIONS", "OMIM:613736": "ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2", "OMIM:617585": "IMMUNODEFICIENCY 53; IMD53", "OMIM:258400": "OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS", "OMIM:312500": "RETICULOENDOTHELIOSIS, X-LINKED", "OMIM:617988": "JABERI-ELAHI SYNDROME; JABELS", "OMIM:609253": "FEBRILE SEIZURES, FAMILIAL, 6; FEB6", "OMIM:250500": "METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA", "OMIM:300280": "URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU", "OMIM:165510": "OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES; OPA13", "OMIM:617866": "SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18", "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; PDDP", "OMIM:112700": "BRACHYDACTYLY, TYPE A3; BDA3", "OMIM:617523": "NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM", "OMIM:240000": "HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE", "OMIM:617773": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61; MRT61", "OMIM:142330": "HEPATIC ADENOMAS, FAMILIAL", "OMIM:607487": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25; CMH25", "OMIM:147710": "INTUSSUSCEPTION", "ORPHA:178148": "Antenatal multiminicore disease with arthrogryposis multiplex congenita", "OMIM:613757": "MACULAR DEGENERATION, AGE-RELATED, 6; ARMD6", "OMIM:230300": "GALACTORRHEA", "OMIM:612098": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11", "OMIM:617710": "NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS", "OMIM:123540": "CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY", "OMIM:608367": "MYOPIA 17, AUTOSOMAL DOMINANT; MYP17", "ORPHA:1782": "Dysosteosclerosis/DYSOSTEOSCLEROSIS", "OMIM:224300": "DYSOSTEOSCLEROSIS", "OMIM:314380": "UNIQUE GREEN PHENOMENON", "OMIM:269650": "SECRETORY COMPONENT DEFICIENCY", "OMIM:609939": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6", "OMIM:107900": "ARMS, MALFORMATION OF", "OMIM:616255": "SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1; SNSK1", "OMIM:271110": "SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:251800": "MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS", "OMIM:618364": "MYOCLONUS, FAMILIAL, 2; MYOCL2", "OMIM:617275": "TOOTH AGENESIS, SELECTIVE, 9; STHAG9", "OMIM:308230": "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1", "ORPHA:178303": "8q22.1 microdeletion syndrome/Nablus mask-like facial syndrome / Monosomy 8q22.1", "OMIM:608156": "NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS", "OMIM:114700": "CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH", "OMIM:617320": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12", "OMIM:606851": "CREE IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME", "OMIM:603529": "DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN", "OMIM:617222": "SUDDEN CARDIAC FAILURE, INFANTILE; SCFI", "OMIM:618528": "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE); MTDPS16", "OMIM:601942": "TYPE 1 DIABETES MELLITUS 10; T1D10", "OMIM:618006": "LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17", "OMIM:615537": "RETICULATE ACROPIGMENTATION OF KITAMURA; RAK", "OMIM:170650": "PERIODONTITIS, AGGRESSIVE, 1", "OMIM:120050": "COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S", "OMIM:222100": "TYPE 1 DIABETES MELLITUS; T1D", "OMIM:612096": "OTOSCLEROSIS 8; OTSC8", "OMIM:167870": "PANIC DISORDER 1; PAND1", "OMIM:190430": "TRIGLYCERIDE STORAGE DISEASE, TYPE II", "OMIM:618107": "OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3", "OMIM:617926": "OROFACIODIGITAL SYNDROME XVII; OFD17", "OMIM:233800": "GROUPED PIGMENTATION OF THE RETINA", "OMIM:617133": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24", "OMIM:618436": "ARTHROGRYPOSIS, DISTAL, TYPE 2B3; DA2B3", "OMIM:618266": "PONTOCEREBELLAR HYPOPLASIA, TYPE 12; PCH12", "OMIM:617967": "HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3", "OMIM:301010": "MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26", "OMIM:617584": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25", "OMIM:617732": "FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION; FPVEPD", "OMIM:109100": "AUTOIMMUNE DISEASE", "OMIM:160700": "MYOPIA 2, AUTOSOMAL DOMINANT; MYP2", "OMIM:612447": "SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:210000": "BEHR SYNDROME; BEHRS", "OMIM:264060": "PREPAPILLARY VASCULAR LOOPS", "OMIM:173650": "KINDLER SYNDROME; KNDLRS", "OMIM:618050": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57; MRD57", "OMIM:608907": "ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9", "OMIM:618144": "USHER SYNDROME, TYPE IV; USH4", "OMIM:188560": "THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT", "OMIM:553000": "ONCOCYTOMA", "OMIM:617591": "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3", "OMIM:617664": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32", "OMIM:617668": "ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA", "OMIM:617770": "SPINOCEREBELLAR ATAXIA 46; SCA46", "ORPHA:178333": "Åland Islands eye disease/Aland island eye disease / AIED / Forsius-Eriksson syndrome / Forsius-Eriksson type ocular albinism", "OMIM:300600": "ALAND ISLAND EYE DISEASE; AIED", "OMIM:610441": "TESTICULAR MICROLITHIASIS", "OMIM:247450": "LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN", "OMIM:617804": "NEURODEVELOPMENTAL DISORDER WITH VARIABLE MOTOR AND LANGUAGE IMPAIRMENT; NEDMIAL", "OMIM:618425": "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS; NEDISHM", "OMIM:617394": "SCLEROSING CHOLANGITIS, NEONATAL; NSC", "OMIM:182200": "SELLA TURCICA, BRIDGED", "OMIM:148100": "KELOID FORMATION; KLDF", "OMIM:275250": "TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF", "OMIM:200300": "ACETOPHENETIDIN SENSITIVITY", "OMIM:608474": "MYOPIA 5, AUTOSOMAL DOMINANT; MYP5", "OMIM:263550": "POLYMYOCLONUS, INFANTILE", "OMIM:127200": "DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES", "OMIM:618147": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF", "OMIM:618354": "HOUGE-JANSSENS SYNDROME 3; HJS3", "OMIM:616098": "IMMUNODEFICIENCY 37; IMD37", "OMIM:241100": "HYPOGONADISM, MALE", "OMIM:618504": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71; MRT71", "OMIM:617564": "MEIER-GORLIN SYNDROME 8; MGORS8", "OMIM:145650": "THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH", "OMIM:617403": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D", "OMIM:617540": "PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5", "OMIM:617718": "IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA; IMD71", "OMIM:613737": "ACNE INVERSA, FAMILIAL, 3; ACNINV3", "OMIM:166760": "OTITIS MEDIA, SUSCEPTIBILITY TO; OMS", "OMIM:300228": "TESTICULAR GERM CELL TUMOR 1; TGCT1", "OMIM:266250": "RADICULONEUROPATHY, FATAL NEONATAL", "OMIM:145350": "HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY; HTRDC", "OMIM:139300": "AROMATASE EXCESS SYNDROME; AEXS", "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; GLC1F", "OMIM:615723": "PREMATURE OVARIAN FAILURE 8; POF8", "OMIM:251945": "MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT", "OMIM:616171": "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2", "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": "HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH", "OMIM:141200": "HEMATURIA, BENIGN FAMILIAL, 1; BFH1", "OMIM:605258": "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2", "OMIM:610125": "MICROPHTHALMIA, SYNDROMIC 5; MCOPS5", "OMIM:124700": "DEAFNESS, MID-TONE NEURAL", "OMIM:193200": "VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6; VAMAS6", "OMIM:212093": "CARDIAC VALVULAR DYSPLASIA 1; CVDP1", "OMIM:601367": "STROKE, ISCHEMIC", "OMIM:300211": "EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX", "OMIM:264110": "PROLACTIN DEFICIENCY, ISOLATED", "OMIM:608850": "MACULAR DYSTROPHY, RETINAL, 3; MCDR3", "OMIM:192600": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1", "OMIM:155000": "MAXILLOFACIAL DYSOSTOSIS", "ORPHA:178377": "Osteosclerosis-developmental delay-craniosynostosis syndrome", "OMIM:605735": "BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12", "OMIM:126200": "MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS", "OMIM:186600": "SYRINGOMAS, MULTIPLE", "OMIM:607499": "BULIMIA NERVOSA, SUSCEPTIBILITY TO; BULN", "OMIM:275190": "TIGLIC ACIDEMIA", "OMIM:400043": "DEAFNESS, Y-LINKED 1; DFNY1", "ORPHA:178382": "Congenital vertical talus/Vertical talus, congenital / Congenital convex foot / Congenital convex pes valgus / Congenital rocker-bottom foot", "OMIM:192950": "VERTICAL TALUS, CONGENITAL; CVT", "OMIM:300321": "FG SYNDROME 2; FGS2", "OMIM:308280": "IMPACTED TEETH, MULTIPLE", "OMIM:618098": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5", "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; NEDAMSS", "OMIM:246470": "LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER", "OMIM:612301": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7", "OMIM:617388": "AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK", "OMIM:264080": "PROGESTERONE RESISTANCE", "OMIM:601846": "MYOPATHY WITH RIMMED UBIQUITIN-POSITIVE AUTOPHAGIC VACUOLATION, AUTOSOMAL DOMINANT; MRUPAV", "OMIM:166710": "OSTEOPOROSIS", "OMIM:612964": "PREMATURE OVARIAN FAILURE 7; POF7", "OMIM:170980": "PERONEAL NERVE, ACCESSORY DEEP", "OMIM:607498": "MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3", "OMIM:600082": "PROSTATIC HYPERPLASIA, BENIGN; BPH", "OMIM:607523": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8", "OMIM:615420": "MYOPIA 22, AUTOSOMAL DOMINANT; MYP22", "OMIM:300082": "COGNITIVE FUNCTION 1, SOCIAL; CGF1", "OMIM:615032": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY; IDDAM", "OMIM:125460": "DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY", "OMIM:183350": "SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED 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; CHTD3", "ORPHA:1784": "Acrofrontofacionasal dysostosis/Acrofrontofacionasal dysostosis 1 / Richieri-Costa-Colletto syndrome", "OMIM:201180": "ACROFRONTOFACIONASAL DYSOSTOSIS 1", "OMIM:109800": "BLADDER CANCER", "OMIM:614167": "MYOPIA 21, AUTOSOMAL DOMINANT; MYP21", "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; NDCAMA", "OMIM:618438": "SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE; SPAX9", "OMIM:173590": "PLATELET SIGNAL PROCESSING DEFECT", "OMIM:616118": "MACULAR DEGENERATION, EARLY-ONSET; EOMD", "ORPHA:178400": "Distal myopathy with anterior tibial onset/Myopathy, distal, with anterior tibial onset / Distal anterior compartment myopathy", "OMIM:606768": "MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT", "OMIM:247800": "LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS", "OMIM:601682": "GLAUCOMA 1, PRIMARY OPEN ANGLE, C; GLC1C", "OMIM:614063": "N-ACETYLASPARTATE DEFICIENCY; NACED", "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; IGAN1", "OMIM:165098": "OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION", "OMIM:617082": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CDG1AA", "OMIM:300696": "MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA", "OMIM:237800": "HYPERBILIRUBINEMIA, SHUNT, PRIMARY; PSHB", "OMIM:240400": "HYPOASCORBEMIA", "OMIM:617744": "IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH", "OMIM:614175": "MECKEL SYNDROME, TYPE 10; MKS10", "OMIM:218100": "CRANIAL NERVES, CONGENITAL PARESIS OF", "OMIM:241150": "HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY", "OMIM:614980": "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2", "ORPHA:178464": "Hereditary myopathy with early respiratory failure/Myopathy, myofibrillar, 9, with early respiratory failure / Edström Myopathy / HIBM-ERF / HMERF / Hereditary inclusion body myopathy with early respiratory failure / MFM-titinopathy / Myofibrillar myopathy with early respiratory failure / Myofibrillar myopathy-titinopathy", "OMIM:603689": "MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE; MFM9", "OMIM:608996": "PREMATURE OVARIAN FAILURE 3; POF3", "OMIM:226800": "EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:611548": "PREMATURE OVARIAN FAILURE 5; POF5", "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; ETM5", "OMIM:300273": "GOITER, MULTINODULAR 2; MNG2", "OMIM:138500": "HYPERGLYCINURIA", "OMIM:210050": "BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION", "OMIM:183840": "SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2; SPDA2", "OMIM:610244": "SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33", "OMIM:265850": "PYGMY", "OMIM:212400": "CATARACT AND CONGENITAL ICHTHYOSIS", "OMIM:607578": "BREATH-HOLDING SPELLS", "OMIM:606843": "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3", "ORPHA:178475": "Wound botulism / Cutaneous infectious botulism / Cutaneous toxin-mediated botulism / Inoculation botulism / Skin infectious botulism / Skin toxin-mediated botulism", "OMIM:616278": "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5", "OMIM:614391": "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3; RPRGL3", "OMIM:128000": "DYSTELEPHALANGY", "OMIM:609008": "MARFANOID HABITUS WITH SITUS INVERSUS", "OMIM:600631": "ENURESIS, NOCTURNAL, 1; ENUR1", "OMIM:114650": "CAR FACTOR DEFICIENCY", "OMIM:610965": "XFE PROGEROID SYNDROME; XFEPS", "ORPHA:178478": "Infant botulism / Infant intestinal botulism / Infant intestinal toxemia botulism / Infant intestinal toxin-mediated botulism / Infantile botulism", "OMIM:614628": "KERATOCONUS 8; KTCN8", "OMIM:112270": "BONE PAIN, PERIODIC", "OMIM:122750": "COXA VARA", "OMIM:602089": "HEMANGIOMA, CAPILLARY INFANTILE", "OMIM:617871": "RETINITIS PIGMENTOSA 81; RP81", "OMIM:616946": "PREMATURE OVARIAN FAILURE 11; POF11", "OMIM:614306": "COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT", "ORPHA:178481": "Intestinal botulism / Intestinal colonization botulism / Intestinal toxemia botulism / Intestinal toxin-mediated 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; MRD46", "OMIM:618351": "MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE; MCPH25", "OMIM:608995": "DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8", "OMIM:219550": "CYSTEINE PEPTIDURIA", "OMIM:300830": "AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4", "ORPHA:178487": "Adult intestinal botulism / Adult intestinal colonization botulism / Adult intestinal toxemia botulism / Adult intestinal toxin-mediated botulism / Infant-like botulism", "OMIM:618343": "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV", "OMIM:253600": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1", "OMIM:206400": "ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM", "OMIM:618223": "VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD", "OMIM:232900": "GLYCOPROTEIN STORAGE DISEASE", "OMIM:615589": "OTOSCLEROSIS 10; OTSC10", "OMIM:616710": "PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22", "OMIM:618165": "BONE MARROW FAILURE SYNDROME 5; BMFS5", "OMIM:612229": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3", "OMIM:603956": "CERVICAL CANCER", "OMIM:104110": "ALOPECIA, FAMILIAL FOCAL; ALPF", "OMIM:604352": "FEBRILE SEIZURES, FAMILIAL, 4; FEB4", "OMIM:613387": "FATTY LIVER DISEASE, SUSCEPTIBILITY TO, 2; FLD2", "OMIM:614163": "DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO; DSPD", "OMIM:308600": "JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY", "OMIM:618339": "CASGID SYNDROME; CASGID", "OMIM:224000": "DYSAUTONOMIA-LIKE DISORDER", "OMIM:613658": "RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1; RILDBC1", "OMIM:612160": "HISTIOCYTOMA, ANGIOMATOID FIBROUS", "OMIM:618495": "IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD63", "OMIM:614372": "MANNOSE-BINDING LECTIN DEFICIENCY; MBLD", "OMIM:132000": "EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS", "OMIM:616843": "LYMPHATIC MALFORMATION 6; LMPHM6", "OMIM:182000": "KERATOSIS, SEBORRHEIC", "OMIM:600084": "MACROCYTOSIS, FAMILIAL", "OMIM:184450": "STUTTERING, FAMILIAL PERSISTENT, 1; STUT1", "OMIM:189230": "TOES, SPACE BETWEEN FIRST AND SECOND", "ORPHA:178509": "Perry syndrome/Perry syndrome / Parkinsonism with alveolar hypoventilation and mental depression", "OMIM:168605": "PERRY SYNDROME", "OMIM:616831": "LUSCAN-LUMISH SYNDROME; LLS", "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 IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:212070": "CARBOXYPEPTIDASE N DEFICIENCY; CPND", "OMIM:617746": "SWEENEY-COX SYNDROME; SWCOS", "OMIM:267740": "RETINAL DEGENERATION AND EPILEPSY", "OMIM:607565": "SPASTIC PARAPLEGIA, ATAXIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:201750": "ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1", "OMIM:300589": "NYSTAGMUS 5, CONGENITAL, X-LINKED; NYS5", "OMIM:188100": "THUMB DEFORMITY", "OMIM:609289": "SYNCOPE, FAMILIAL VASOVAGAL; VVS", "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; AUTSX6", "OMIM:164230": "OBSESSIVE-COMPULSIVE DISORDER; OCD", "OMIM:612520": "TYPE 1 DIABETES MELLITUS 20; T1D20", "OMIM:205200": "AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA", "OMIM:146850": "IMMUNE SUPPRESSION; IS", "OMIM:125480": "MAJOR AFFECTIVE DISORDER 1; MAFD1", "OMIM:300622": "TN POLYAGGLUTINATION SYNDROME; TNPS", "OMIM:608184": "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4", "OMIM:310460": "MYOPIA 1, X-LINKED; MYP1", "OMIM:191550": "URETER, BIFID OR DOUBLE", "OMIM:614674": "PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT", "OMIM:618167": "OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD", "OMIM:616051": "MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13", "OMIM:560000": "RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA", "OMIM:608345": "NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3", "OMIM:129550": "ECTODERMAL DYSPLASIA WITH ADRENAL CYST", "OMIM:614429": "VENTRICULAR SEPTAL DEFECT 1; VSD1", "OMIM:176600": "PRESENILE DEMENTIA, KRAEPELIN TYPE", "OMIM:250900": "METHIONINE MALABSORPTION SYNDROME", "OMIM:173420": "PLATELET DISORDER, UNDEFINED", "OMIM:617234": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16; OZEMA16", "OMIM:152700": "SYSTEMIC LUPUS ERYTHEMATOSUS; SLE", "OMIM:264140": "PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DEAFNESS", "OMIM:242870": "Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes", "OMIM:618013": "DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109", "OMIM:215720": "CITRULLINE TRANSPORT DEFECT", "OMIM:179000": "PURPURA SIMPLEX", "OMIM:609441": "ACROMESOMELIC DYSPLASIA 3; AMD3", "OMIM:152550": "LUMBAR STENOSIS, FAMILIAL", "OMIM:270350": "ANOSMIA FOR BUTYL MERCAPTAN", "OMIM:309200": "MAJOR AFFECTIVE DISORDER 2; MAFD2", "OMIM:614826": "NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT; NYS7", "OMIM:212130": "CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH", "OMIM:156900": "MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR", "OMIM:612244": "INFLAMMATORY BOWEL DISEASE 13; IBD13", "OMIM:600419": "ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS", "OMIM:615411": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3", "OMIM:609529": "IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2", "OMIM:236690": "HYDROCEPHALUS, NORMAL-PRESSURE, 1; HYDNP1", "OMIM:310800": "NYSTAGMUS, MYOCLONIC", "OMIM:617784": "FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW", "OMIM:238750": "HYPERLYSINURIA WITH HYPERAMMONEMIA", "OMIM:618168": "DIARRHEA 9; DIAR9", "OMIM:610251": "ALCOHOL SENSITIVITY, ACUTE", "OMIM:617604": "MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA", "OMIM:615236": "WOODS SYNDROME", "OMIM:151610": "OCULOMOTOR-LEVATOR SYNKINESIS; OCLEVS", "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; FHCL2", "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; MRD45", "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; EIG12", "OMIM:618550": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7; OZEMA7", "OMIM:110000": "BLEPHAROCHALASIS, SUPERIOR", "OMIM:115197": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4", "OMIM:132500": "EPISTAXIS, HEREDITARY", "OMIM:308220": "IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN", "OMIM:617442": "PREMATURE OVARIAN FAILURE 13; POF13", "OMIM:616920": "HEART AND BRAIN MALFORMATION SYNDROME; HBMS", "OMIM:617862": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA", "OMIM:615439": "MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13", "OMIM:180300": "RHEUMATOID ARTHRITIS; RA", "OMIM:618093": "SPINOCEREBELLAR ATAXIA 48; SCA48", "OMIM:191850": "URTICARIA, AQUAGENIC", "OMIM:106280": "ANKYLOGLOSSIA WITH OR WITHOUT TOOTH ANOMALIES; ANKG", "OMIM:248100": "MACROSOMIA ADIPOSA CONGENITA", "OMIM:618042": "IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA; IMD100", "OMIM:618500": "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12", "OMIM:613886": "OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD", "OMIM:309840": "MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS", "OMIM:613291": "BILE ACID MALABSORPTION, PRIMARY, 1; PBAM1", "OMIM:151640": "LIP, HAMARTOMATOUS", "OMIM:616521": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39; MRD39", "OMIM:274200": "THUMB, DISTAL HYPEREXTENSIBILITY OF", "OMIM:168800": "PAROTIDOMEGALY, HEREDITARY BILATERAL", "OMIM:300972": "IMMUNODEFICIENCY 47; IMD47", "OMIM:265200": "PULMONARY BULLAE CAUSING PNEUMOTHORAX", "OMIM:300158": "ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED; ACLLX", "OMIM:616959": "RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM", "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; MRX108", "OMIM:187260": "TELANGIECTASIA, HEREDITARY BENIGN", "OMIM:151700": "LIPOMA OF THE CONJUNCTIVA", "OMIM:102300": "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1", "OMIM:115195": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2", "OMIM:614575": "CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME; CANVAS", "OMIM:608106": "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5", "OMIM:617991": "CHUNG-JANSEN SYNDROME; CHUJANS", "OMIM:618363": "SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS; SSASKS", "OMIM:614033": "HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY", "OMIM:106500": "ANNULAR ERYTHEMA", "OMIM:166950": "TERATOMA, OVARIAN", "OMIM:134900": "FIBRINOLYTIC DEFECT", "OMIM:153800": "MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2", "OMIM:613870": "HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD", "OMIM:122460": "HUMAN CORONAVIRUS SENSITIVITY; HCVS", "OMIM:248260": "MAGNESIUM, ELEVATED RED CELL", "ORPHA:1786": "Acrofacial dysostosis, Catania type/Acrofacial dysostosis, Catania type / Opitz-Caltabiano syndrome", "OMIM:101805": "ACROFACIAL DYSOSTOSIS, CATANIA TYPE", "OMIM:254120": "MUSCULAR HYPERTONIA, LETHAL", "OMIM:618116": "BONE MARROW FAILURE SYNDROME 4; BMFS4", "OMIM:255300": "BATTEN-TURNER CONGENITAL MYOPATHY", "OMIM:192605": "VENTRICULAR TACHYCARDIA, FAMILIAL", "OMIM:611571": "OTOSCLEROSIS 4; OTSC4", "OMIM:161700": "NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT", "OMIM:617284": "DYSTONIA 28, CHILDHOOD-ONSET; DYT28", "OMIM:177990": "PTERYGIUM COLLI, ISOLATED", "ORPHA:1787": "Acrofacial dysostosis, Palagonia type", "OMIM:168600": "PARKINSON DISEASE, LATE-ONSET; PD", "OMIM:178400": "PULMONARY EDEMA OF MOUNTAINEERS, SUSCEPTIBILITY TO", "OMIM:602199": "MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY", "OMIM:618092": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES; IDDSFTA", "OMIM:617916": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7", "OMIM:147630": "INSULINOMATOSIS AND DIABETES MELLITUS; INSDM", "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 SYNDROME OF RODRIGUEZ", "OMIM:148300": "KERATOCONUS 1; KTCN1", "OMIM:190300": "TREMOR, HEREDITARY ESSENTIAL, 1; ETM1", "OMIM:187550": "THALASSEMIA, BETA+, SILENT ALLELE", "OMIM:137100": "IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1", "OMIM:310350": "MYELOLYMPHATIC INSUFFICIENCY", "OMIM:125320": "DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES", "OMIM:209850": "AUTISM", "OMIM:169545": "PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA", "OMIM:273770": "THREONINEMIA", "OMIM:613838": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16", "OMIM:616248": "LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6", "OMIM:618324": "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2", "OMIM:617260": "GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF", "OMIM:266350": "RED SKIN PIGMENT ANOMALY OF NEW GUINEA", "OMIM:617156": "MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15", "OMIM:617882": "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG", "OMIM:500007": "CYCLIC VOMITING SYNDROME; CVS", "ORPHA:179": "Birdshot chorioretinopathy/Birdshot chorioretinopathy / Birdshot chorioretinitis / Birdshot retinochoroiditis / Birdshot retinochoroidopathy / Vitiliginous choroiditis", "OMIM:605808": "BIRDSHOT CHORIORETINOPATHY", "OMIM:102800": "Adenosine triphosphatase deficiency, anemia due to", "OMIM:614431": "VENTRICULAR SEPTAL DEFECT 2; VSD2", "OMIM:191800": "BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT; BAIPRCK", "OMIM:610460": "THIOPURINES, POOR METABOLISM OF, 1; THPM1", "OMIM:617159": "SIFRIM-HITZ-WEISS SYNDROME; SIHIWES", "OMIM:607836": "AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1", "OMIM:609222": "DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC", "OMIM:261590": "PHENFORMIN 4-HYDROXYLATION", "ORPHA:1790": "Hypomandibular faciocranial dysostosis/Hypomandibular faciocranial dysostosis", "OMIM:241310": "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": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64; DEE64", "OMIM:300425": "AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1", "OMIM:158650": "MUSCULAR ATROPHY, MALIGNANT NEUROGENIC", "OMIM:116870": "CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF 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; CDCBM9", "OMIM:617864": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA", "OMIM:311100": "OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME", "OMIM:618392": "SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE; SEDKF", "OMIM:173580": "PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED", "OMIM:617769": "SPINOCEREBELLAR ATAXIA 45; SCA45", "OMIM:614432": "VENTRICULAR SEPTAL DEFECT 3; VSD3", "ORPHA:1791": "Frontofacionasal dysplasia/Frontofacionasal dysplasia / Gollop syndrome", "OMIM:229400": "FRONTOFACIONASAL DYSPLASIA", "OMIM:127700": "DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1", "OMIM:130010": "EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2", "OMIM:605419": "SCHIZOPHRENIA 10; SCZD10", "OMIM:617644": "SPERMATOGENIC FAILURE 21; SPGF21", "OMIM:600669": "EPILEPSY, IDIOPATHIC GENERALIZED; EIG", "OMIM:617190": "SHASHI-PENA SYNDROME; SHAPNS", "OMIM:227850": "FANCONI-LIKE SYNDROME", "OMIM:615282": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2", "ORPHA:1794": "Oculomaxillofacial dysostosis / Richieri-Costa-Gorlin syndrome", "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; OFD18", "OMIM:617895": "SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19", "OMIM:166800": "OTOSCLEROSIS 1; OTSC1", "OMIM:221500": "DEAFNESS, NEURAL, CONGENITAL MODERATE", "ORPHA:101096": "Aregenerative anemia / OBSOLETE: Aregenerative anemia", "OMIM:611953": "MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11", "OMIM:208750": "ATAXIA, DEAFNESS, AND CARDIOMYOPATHY", "OMIM:617879": "LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD", "OMIM:613949": "OKT4 EPITOPE DEFICIENCY; OKT4D", "OMIM:618541": "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT; HOD", "OMIM:618265": "ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; ACCIID", "OMIM:618247": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26; MC1DN26", "ORPHA:179494": "Obesity due to leptin receptor gene deficiency/Leptin receptor deficiency", "OMIM:614963": "LEPTIN RECEPTOR DEFICIENCY; LEPRD", "OMIM:130070": "EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1; EDSSPD1", "OMIM:314100": "ADDUCTED THUMBS, CONGENITAL", "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; NEDHND", "ORPHA:1795": "Peripheral dysostosis/Peripheral dysostosis / OBSOLETE: Peripheral dysostosis", "OMIM:170700": "PERIPHERAL DYSOSTOSIS", "OMIM:219050": "CRYPTORCHIDISM, UNILATERAL OR BILATERAL", "OMIM:118650": "CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT", "OMIM:181500": "SCHIZOPHRENIA; SCZD", "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; HADDS", "ORPHA:1797": "Autosomal dominant spondylocostal dysostosis / Autosomal dominant spondylocostal dysplasia", "OMIM:612713": "KAHRIZI SYNDROME; KHRZ", "OMIM:617977": "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS", "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; MRT68", "OMIM:618164": "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD", "OMIM:188055": "THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2", "OMIM:602071": "BROAD TERMINAL PHALANGES, FAMILIAL", "ORPHA:1798": "Dysostosis, Stanescu type / Craniofacial dysostosis-diaphyseal hyperplasia syndrome / Autosomal dominant osteosclerosis, Stanescu type / Stanescu osteosclerosis", "OMIM:247430": "LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF", "OMIM:610023": "BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS", "OMIM:617917": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8", "OMIM:212850": "CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS", "OMIM:618325": "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9", "OMIM:611962": "HUNTER-MACDONALD SYNDROME", "OMIM:109120": "AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES", "OMIM:109050": "AUROCEPHALOSYNDACTYLY", "ORPHA:1799": "Familial developmental dysphasia/Dysphasia, familial developmental / Billard-Toutain-Maheut syndrome / FOXP2-associated dysphasia", "OMIM:600117": "DYSPHASIA, FAMILIAL DEVELOPMENTAL", "OMIM:215550": "CIRCUMVALLATE PLACENTA SYNDROME", "OMIM:273120": "TERATOMA, PINEAL", "OMIM:306960": "HHHH SYNDROME", "OMIM:608320": "CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1", "OMIM:615926": "WEBB-DATTANI SYNDROME; WEDAS", "OMIM:617146": "ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT", "OMIM:300125": "MIGRAINE WITH OR WITHOUT AURA, 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; AUTSX2", "OMIM:120450": "COMEDONES, FAMILIAL DYSKERATOTIC", "OMIM:601039": "ICHTHYOSIS-IMPAIRED INTELLECTUAL DEVELOPMENTAL SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN", "OMIM:606263": "PAGET DISEASE OF BONE 4; PDB4", "OMIM:606721": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7; FPLD7", "OMIM:608175": "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3", "OMIM:617255": "LISSENCEPHALY 8; LIS8", "ORPHA:180": "Choroideremia/CHOROIDEREMIA / CHM / Tapetochoroidal dystrophy", "OMIM:303100": "CHOROIDEREMIA; CHM", "OMIM:618356": "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION; NEDCPMD", "OMIM:260100": "PA POLYMORPHISM OF ALPHA-2-GLOBULIN", "OMIM:146600": "ICHTHYOSIS HYSTRIX, LAMBERT TYPE; IHL", "OMIM:146750": "ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT; ADLI", "OMIM:221700": "DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS", "OMIM:618529": "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2; RRS2", "OMIM:618479": "CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME; COFG", "OMIM:165680": "OSSICULAR MALFORMATIONS, FAMILIAL", "OMIM:126180": "DISCRIMINATION, TWO-POINT, REDUCTION IN", "OMIM:613950": "SCHIZOPHRENIA 15; SCZD15", "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; PNRIID", "OMIM:140600": "OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2", "OMIM:251900": "MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY; MEOAL", "OMIM:613251": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14", "OMIM:617194": "LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11", "OMIM:156190": "MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA", "OMIM:144110": "HYPERHIDROSIS PALMARIS ET PLANTARIS; HYPRPP", "OMIM:100600": "ACANTHOSIS NIGRICANS", "OMIM:614622": "KERATOCONUS 5; KTCN5", "OMIM:145800": "HYPERTROPHIA MUSCULORUM VERA", "OMIM:191150": "TUFTSIN DEFICIENCY", "OMIM:161530": "NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE", "OMIM:124300": "DARWINIAN TUBERCLE OF PINNA", "OMIM:618273": "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM", "OMIM:192100": "UVULA, BIFID", "OMIM:247950": "LYSINE MALABSORPTION SYNDROME", "OMIM:601979": "AUTOINFLAMMATORY SYNDROME WITH CYTOPENIA, HYPERZINCEMIA, AND HYPERCALPROTECTINEMIA; AICZC", "OMIM:151430": "BCL2 APOPTOSIS REGULATOR; BCL2", "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; PPROM", "OMIM:607236": "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration", "OMIM:270600": "SPASTIC DIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:618162": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK", "OMIM:600906": "ECTODERMAL DYSPLASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT 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; TRICY1", "OMIM:183020": "SPINAL MUSCULAR ATROPHY, SEGMENTAL", "OMIM:617101": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN", "OMIM:167250": "PAGET DISEASE OF BONE 3; PDB3", "OMIM:121210": "FEBRILE SEIZURES, FAMILIAL, 1; FEB1", "OMIM:185460": "SULFHEMOGLOBINEMIA, CONGENITAL", "OMIM:608762": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3", "OMIM:617974": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR", "OMIM:208700": "ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA", "OMIM:150170": "LACTIC ACIDOSIS, CHRONIC ADULT FORM", "OMIM:606711": "SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1", "OMIM:617349": "AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11", "OMIM:617360": "CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD", "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; KMD", "ORPHA:251636": "Ependymoma / Classic ependymoma", "OMIM:605589": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2", "OMIM:607731": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; CMT2H", "OMIM:113670": "HYPERTROPHY OF THE BREAST, JUVENILE; JHB", "ORPHA:1802": "Ghosal hematodiaphyseal dysplasia/Ghosal hematodiaphyseal dysplasia / Diaphyseal dysplasia-anemia syndrome / Ghosal syndrome", "OMIM:231095": "GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD", "ORPHA:180229": "Polyembryoma", "ORPHA:1803": "Thoracomelic dysplasia/Thoracomelic dysplasia / Rivera-Perez-Salas syndrome / Thoracolimb dysplasia, Rivera type", "OMIM:273740": "THORACOMELIC DYSPLASIA", "ORPHA:101108": "Spinocerebellar ataxia type 23/Spinocerebellar ataxia 23 / SCA23", "OMIM:610245": "SPINOCEREBELLAR ATAXIA 23; SCA23", "ORPHA:1806": "Ectodermal dysplasia-blindness syndrome/Rodrigues blindness", "OMIM:268320": "RODRIGUES BLINDNESS", "ORPHA:1807": "Focal facial dermal dysplasia type III/Focal facial dermal dysplasia 3, Setleis type / FFDD type III / FFDD3 / Setleis syndrome", "OMIM:227260": "FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3", "ORPHA:1808": "Hidrotic ectodermal dysplasia, Christianson-Fourie type / Christianson-Fourie syndrome", "ORPHA:1809": "Hidrotic ectodermal dysplasia, Halal type / Halal-Setton-Wang syndrome / Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome", "ORPHA:101109": "Spinocerebellar ataxia type 28/Spinocerebellar ataxia 28 / SCA28", "OMIM:610246": "SPINOCEREBELLAR ATAXIA 28; SCA28", "ORPHA:181": "X-linked hypohidrotic ectodermal dysplasia/Ectodermal dysplasia 1, hypohidrotic, X-linked / Christ-Siemens-Touraine syndrome / X-linked anhidrotic ectodermal dysplasia / XHED", "OMIM:305100": "ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED", "ORPHA:1810": "Autosomal dominant hypohidrotic ectodermal dysplasia / AD-HED / Autosomal dominant anhidrotic ectodermal dysplasia", "ORPHA:1811": "Odontomicronychial dysplasia/Odontomicronychial dysplasia", "OMIM:601319": "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, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM", "ORPHA:101110": "Spinocerebellar ataxia type 20/Spinocerebellar ataxia 20 / SCA20", "OMIM:608687": "SPINOCEREBELLAR ATAXIA 20; SCA20", "ORPHA:181393": "Growth hormone insensitivity syndrome / GHIS / Short stature due to a defect in growth hormone receptor or post-receptor pathway", "ORPHA:101111": "Spinocerebellar ataxia type 25/Spinocerebellar ataxia 25 / SCA25", "OMIM:608703": "SPINOCEREBELLAR ATAXIA 25; SCA25", "ORPHA:1816": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome/Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis / Berlin syndrome / Ectodermal dysplasia, Berlin type", "OMIM:246500": "LEUKOMELANODERMA, INFANTILISM, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPODONTIA, HYPOTRICHOSIS", "ORPHA:1818": "Ectodermal dysplasia, trichoodontoonychial type", "ORPHA:101112": "Spinocerebellar ataxia type 26/Spinocerebellar ataxia 26 / SCA26", "OMIM:609306": "SPINOCEREBELLAR ATAXIA 26; SCA26", "ORPHA:182050": "MYH9-related disease/Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss / MYH9-RD / MYH9-related disorder / MYH9-related syndrome / MYH9-related syndromic thrombocytopenia", "OMIM:155100": "MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS", "OMIM:137800": "GLIOMA SUSCEPTIBILITY 1; GLM1", "ORPHA:101150": "Autosomal recessive dopa-responsive dystonia/Segawa syndrome, autosomal recessive / Autosomal recessive Segawa syndrome / DYT5b / Tyrosine hydroxylase deficiency / Tyrosine hydroxylase-deficient dopa-responsive dystonia", "OMIM:605407": "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "ORPHA:1822": "Dysplasia epiphysealis hemimelica/Dysplasia epiphysealis hemimelica / Trevor disease", "OMIM:127800": "DYSPLASIA EPIPHYSEALIS HEMIMELICA", "ORPHA:101330": "Porphyria cutanea tarda / PCT", "ORPHA:1824": "Lowry-Wood syndrome/Lowry-Wood syndrome / Epiphyseal dysplasia-microcephaly-nystagmus syndrome", "OMIM:226960": "LOWRY-WOOD SYNDROME; LWS", "ORPHA:1825": "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome / Epiphyseal dysplasia-deafness-dysmorphism syndrome / Finucane-Kurtz-Scott syndrome", "ORPHA:1826": "Frontometaphyseal dysplasia", "ORPHA:1827": "Acromelic frontonasal dysplasia/Acromelic frontonasal dysostosis / AFND / Toriello syndrome", "OMIM:603671": "ACROMELIC FRONTONASAL DYSOSTOSIS; AFND", "ORPHA:183": "Eosinophilic granulomatosis with polyangiitis / Churg-Strauss syndrome / EGPA / Granulomatous allergic angiitis", "ORPHA:1830": "Schimke immuno-osseous dysplasia/Immunoosseous dysplasia, Schimke type / Schimke syndrome / Spondyloepiphyseal dysplasia-nephrotic syndrome", "OMIM:242900": "SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD", "ORPHA:1832": "Lethal osteosclerotic bone dysplasia/Raine syndrome / Osteosclerotic bone dysplasia", "OMIM:259775": "RAINE SYNDROME; RNS", "ORPHA:1834": "Axial mesodermal dysplasia spectrum / Blastogenesis defect / Russell-Weaver-Bull syndrome", "OMIM:271400": "ASPLENIA, ISOLATED CONGENITAL; ICAS", "ORPHA:1014": "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome / Devriendt-Vandenberghe-Fryns syndrome", "ORPHA:1836": "Mesomelic dysplasia, Kantaputra type/Mesomelic dysplasia, Kantaputra type / Kantaputra mesomelic dysplasia / MDK / Mesomelic dysplasia, Thai type", "OMIM:156232": "MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; MMDK", "ORPHA:1018": "X-linked Alport syndrome-diffuse leiomyomatosis/Leiomyomatosis, diffuse, with alport syndrome / Xq22.3 microdeletion syndrome", "OMIM:308940": "LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS", "ORPHA:183675": "Recurrent infections associated with rare immunoglobulin isotypes deficiency/Immunoglobulin kappa light chain deficiency / IgG subclass deficiency with IgA subclass deficiency / Isolated IgG subclass deficiency / Kappa-chain deficiency / Selective IgG subclass deficiency", "OMIM:614102": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD", "OMIM:608233": "HERMANSKY-PUDLAK SYNDROME 2; HPS2", "ORPHA:1837": "Ulna metaphyseal dysplasia syndrome/Ulna metaphyseal dysplasia syndrome / Metaphyseal chondrodysplasia, Rosenberg type / Rosenberg-Lohr syndrome", "OMIM:191420": "ULNA METAPHYSEAL DYSPLASIA SYNDROME", "ORPHA:183707": "Neutrophil immunodeficiency syndrome/Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis / Infantile LAD-like disease due to RAC2 deficiency / Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency", "OMIM:608203": "IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS; IMD73A", "ORPHA:183713": "Bacterial susceptibility due to TLR signaling pathway deficiency/Immunodeficiency 68 / OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency", "OMIM:612260": "IMMUNODEFICIENCY 68; IMD68", "ORPHA:1839": "Hereditary mucoepithelial dysplasia/Mucoepithelial dysplasia, hereditary / Urban-Schosser-Spohn syndrome", "OMIM:158310": "MUCOEPITHELIAL DYSPLASIA, HEREDITARY; HMD", "ORPHA:184": "Cherubism/Cherubism / CRBM", "OMIM:118400": "CHERUBISM", "ORPHA:1842": "Bone dysplasia, lethal Holmgren type / Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type", "ORPHA:1848": "Renal agenesis, bilateral/Renal hypodysplasia/aplasia 1", "OMIM:191830": "RENAL HYPODYSPLASIA/APLASIA 1; RHDA1", "ORPHA:185": "Scimitar syndrome / Congenital pulmonary venolobar syndrome / Epibronchial right pulmonary vein syndrome / Halasz syndrome / Hypogenetic lung syndrome", "ORPHA:1852": "X-linked retinal dysplasia/Retinal dysplasia, primary", "OMIM:312550": "RETINAL DYSPLASIA, PRIMARY; PRD", "ORPHA:1855": "Spondyloenchondrodysplasia / SPENCD / Spondyloenchondromatosis / Spondylometaphyseal dysplasia with enchondromatous changes", "ORPHA:1856": "Spondyloperipheral dysplasia-short ulna syndrome/Spondyloperipheral dysplasia", "OMIM:271700": "SPONDYLOPERIPHERAL DYSPLASIA", "ORPHA:1858": "Skeletal dysplasia-epilepsy-short stature syndrome/Gurrieri syndrome / Gurrieri-Sammito-Bellussi syndrome", "OMIM:601187": "GURRIERI SYNDROME", "ORPHA:186": "Primary biliary cholangitis / Hanot syndrome / PBC / Primary biliary cirrhosis", "ORPHA:1860": "Thanatophoric dysplasia type 1/Thanatophoric dysplasia, type I / TD1 / Thanatophoric dwarfism type 1", "OMIM:187600": "THANATOPHORIC DYSPLASIA, TYPE I; TD1", "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; DDSH", "ORPHA:1867": "Hereditary bullous dystrophy, macular type/Bullous dystrophy, hereditary Macular type", "OMIM:302000": "BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE; HBDM", "CCRD:18": "瓜氨酸血症/Citrullinemia", "ORPHA:1871": "Progressive cone dystrophy / Cone dystrophy", "ORPHA:1872": "Cone rod dystrophy/Cone-Rod dystrophy 2", "OMIM:120970": "CONE-ROD DYSTROPHY 2; CORD2", "ORPHA:1873": "Jalili syndrome/Jalili syndrome / Cone rod dystrophy-amelogenesis imperfecta syndrome", "OMIM:217080": "JALILI SYNDROME", "ORPHA:1875": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome/Muscular dystrophy, congenital, with infantile cataract and hypogonadism / Bassoe syndrome", "OMIM:254000": "MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM", "ORPHA:1876": "Oculogastrointestinal muscular dystrophy/Visceral myopathy, familial, with external ophthalmoplegia / Visceral myopathy-familial external ophthalmoplegia syndrome", "OMIM:277320": "VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA", "ORPHA:1878": "TRIM32-related limb-girdle muscular dystrophy R8/Muscular dystrophy, limb-girdle, type 2H / Autosomal recessive limb-girdle muscular dystrophy type 2H / LGMD due to TRIM32 deficiency / LGMD type 2H / LGMD2H / Limb-girdle muscular dystrophy due to TRIM32 deficiency / Limb-girdle muscular dystrophy type 2H / Sarcotubular myopathy / TRIM32-related LGMD R8", "OMIM:254110": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8", "ORPHA:1879": "Melorheostosis with osteopoikilosis / MSBD syndrome / Mixed sclerosing bone dystrophy", "ORPHA:188": "Systemic capillary leak syndrome / Capillary hyperpermeability syndrome / Capillary leak syndrome / Clarkson disease / Idiopathic capillary leak syndrome / SCLS", "ORPHA:1880": "Ebstein malformation of the tricuspid valve/Ebstein anomaly / Ebstein anomaly of the tricuspid valve", "OMIM:224700": "EBSTEIN ANOMALY", "ORPHA:1882": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome/Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia / ANOTHER syndrome / HEDH syndrome", "OMIM:225050": "ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA", "ORPHA:1883": "Ectodermal dysplasia-sensorineural deafness syndrome/Ectodermal dysplasia and neurosensory deafness / Ectodermal dysplasia-sensorineural hearing loss syndrome", "OMIM:224800": "ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS", "ORPHA:1885": "Isolated ectopia lentis / Ectopia lentis syndrome / Familial ectopia lentis", "ORPHA:189": "Hidrotic ectodermal dysplasia/Clouston syndrome", "OMIM:129500": "CLOUSTON SYNDROME", "ORPHA:1891": "Intellectual disability-spasticity-ectrodactyly syndrome/Limb defects, distal transverse, with mental retardation and spasticity / Jancar syndrome", "OMIM:246555": "LIMB DEFECTS, DISTAL TRANSVERSE, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND SPASTICITY", "ORPHA:1892": "Ectrodactyly-polydactyly syndrome/ECTRODACTYLY-POLYDACTYLY", "OMIM:225290": "ECTRODACTYLY-POLYDACTYLY", "ORPHA:189427": "Cushing syndrome due to macronodular adrenal hyperplasia/ACTH-independent macronodular adrenal hyperplasia / Cushing syndrome due to bilateral macronodular adrenocortical disease / CS due to BMACD / CS due to BMAD / Cushing syndrome due to BMACD / Cushing syndrome due to BMAD / Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia", "OMIM:219080": "ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1", "ORPHA:189439": "Primary pigmented nodular adrenocortical disease / OBSOLETE: Primary pigmented nodular adrenocortical disease / OBSOLETE: PPNAD / OBSOLETE: Primary pigmented nodular adrenal dysplasia", "ORPHA:1895": "Edinburgh malformation syndrome/Edinburgh malformation syndrome / Typus Edinburgensis", "OMIM:129850": "EDINBURGH MALFORMATION SYNDROME", "ORPHA:1896": "EEC syndrome/Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 / Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome", "OMIM:604292": "ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3", "ORPHA:1897": "EEM syndrome/Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome / Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome", "OMIM:225280": "ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME; EEMS", "ORPHA:1899": "Arthrochalasia Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, arthrochalasia type, 1 / Arthrochalasia EDS / Arthrochalasis multiplex congenita / EDS VII / Ehlers-Danlos syndrome type 7 / aEDS", "OMIM:130060": "EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1; EDSARTH1", "ORPHA:190": "Coats disease/Coats disease / Congenital retinal telangiectasia / Leber miliary aneurysm", "OMIM:300216": "COATS DISEASE", "ORPHA:1900": "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency/Ehlers-Danlos syndrome, kyphoscoliotic type, 1 / Cutis hyperelastica / EDS VIA / Ehlers-Danlos syndrome type 6A / Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency / Lysyl hydroxylase-deficient EDS / Ocular-scoliotic EDS / kEDS-PLOD1", "OMIM:225400": "EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1", "ORPHA:1901": "Dermatosparaxis Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, dermatosparaxis type / Dermatosparaxis EDS / Ehlers-Danlos syndrome type 7C / Human dermatosparaxis EDS VIIC / dEDS", "OMIM:225410": "EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS", "ORPHA:1906": "Fetal valproate spectrum disorder / Fetal valproate syndrome / Fetal valproic acid syndrome / Valproic acid embryopathy", "ORPHA:1908": "Aminopterin/methotrexate embryofetopathy / Aminopterin embryopathy syndrome / Fetal aminopterin syndrome", "ORPHA:1909": "Indomethacin embryofetopathy / Fetal indomethacin syndrome", "ORPHA:191": "Cockayne syndrome", "ORPHA:1910": "Fetal iodine syndrome/Fetal iodine deficiency disorder", "OMIM:228355": "FETAL IODINE DEFICIENCY DISORDER; FIDD", "ORPHA:1911": "Cocaine embryofetopathy / Fetal cocaine syndrome", "ORPHA:1912": "Fetal hydantoin syndrome / Fetal dihydantoin syndrome / Phenytoin embryofetopathy", "ORPHA:1913": "Fetal trimethadione syndrome", "ORPHA:1914": "Vitamin K antagonist embryofetopathy / Vitamin K antagonist embryopathy / Warfarin embryofetopathy / Warfarin embryopathy / di Sala syndrome", "ORPHA:1915": "Fetal alcohol syndrome / ARBD / ARND / Alcohol-related birth defects / Alcohol-related neurodevelopmental disorder / FAS / FASD / Fetal alcohol spectrum disorders", "ORPHA:1916": "Diethylstilbestrol syndrome / DES embryofetopathy / DES syndrome / Diethylstilbestrol embryofetopathy / Distilbene embryofetopathy", "ORPHA:1917": "Fetal methylmercury syndrome / Congenital Minamata disease / Fetal methylmercury poisoning / Intrauterine methylmercury poisoning / Prenatal methylmercury poisoning", "ORPHA:1918": "Fetal minoxidil syndrome / Minoxidil antenatal exposure", "ORPHA:1919": "Phenobarbital embryopathy", "ORPHA:192": "Coffin-Lowry syndrome/Coffin-Lowry syndrome / CLS", "OMIM:303600": "COFFIN-LOWRY SYNDROME; CLS", "ORPHA:1920": "Toluene embryopathy", "ORPHA:1923": "Methimazole embryofetopathy / MMI/CMZ embryofetopathy / MMI/CMZ embryopathy / Methimazole/carbimazole embryofetopathy / Methimazole/carbimazole embryopathy", "ORPHA:1926": "Diabetic embryopathy / Diabetes-induced teratogenicity", "ORPHA:1927": "Emery-Nelson syndrome / Hand and foot deformity-flat facies syndrome", "ORPHA:1928": "Congenital lobar emphysema/Emphysema, congenital lobar / Congenital lobar hyperinflation / Infantile lobar hyperinflation", "OMIM:130710": "EMPHYSEMA, CONGENITAL LOBAR; CLE", "ORPHA:193": "Cohen syndrome/Cohen syndrome", "OMIM:216550": "COHEN SYNDROME; COH1", "ORPHA:1930": "Herpes simplex virus encephalitis/Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 / HSE / HSV encephalitis / HSVE / Herpes simplex meningo-encephalitis / Herpes simplex neuroinvasion / Herpetic encephalitis", "OMIM:610551": "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1", "ORPHA:1931": "Frontal encephalocele / Anterior encephalocele", "ORPHA:1933": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria/Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) / Booth-Haworth-Dilling syndrome / Mitochondrial encephalomyopathy-aminoacidopathy syndrome / mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "OMIM:612073": "MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5", "ORPHA:1934": "Early infantile epileptic encephalopathy / EIEE / Early infantile epileptic encephalopathy with suppression-bursts / Ohtahara syndrome", "ORPHA:1935": "Early myoclonic encephalopathy / Early myoclonic encephalopathy with suppression-bursts", "ORPHA:1937": "Eng-Strom syndrome/Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature / Short stature-locking fingers syndrome", "OMIM:135950": "FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE", "ORPHA:1941": "Juvenile absence epilepsy/Epilepsy, juvenile absence / JAE", "OMIM:607631": "EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1", "ORPHA:1942": "Myoclonic-astatic epilepsy / Doose syndrome / EMAS / Epilepsy with myoclonic-astatic seizures / Epilepsy with myoclonic-atonic seizures / MAE / Myoclonic atonic epilepsy / Myoclonic-astatic epilepsy in early childhood", "ORPHA:1945": "Rolandic epilepsy/Centralopathic epilepsy / Self-limited epilepsy with centrotemporal spikes / BECRS / BECTS / BRE / Benign epilepsy of childhood with centrotemporal spikes / Benign familial epilepsy of childhood with rolandic spikes / Benign rolandic epilepsy / Centrotemporal epilepsy / SeLECTS", "OMIM:117100": "CENTRALOPATHIC EPILEPSY", "ORPHA:1946": "Amelocerebrohypohidrotic syndrome/Kohlschutter-Tonz syndrome / Epilepsy-dementia-amelogenesis imperfecta syndrome / Kohlschütter-Tönz syndrome", "OMIM:226750": "KOHLSCHUTTER-TONZ SYNDROME; KTZS", "ORPHA:1947": "Progressive epilepsy-intellectual disability syndrome, Finnish type/Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant / CLN8 disease, Northern epilepsy variant / NCL, Northern epilepsy variant / Neuronal ceroid lipofuscinosis, Northern epilepsy variant", "OMIM:610003": "CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT", "ORPHA:1948": "Epilepsy-microcephaly-skeletal dysplasia syndrome/Mental retardation, microcephaly, epilepsy, and coarse face / Battaglia-Neri syndrome", "OMIM:601352": "IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, EPILEPSY, AND COARSE FACE", "ORPHA:1949": "Benign familial neonatal epilepsy/Seizures, benign familial neonatal, 1 / Self-limited neonatal epilepsy / BFNS / Benign familial neonatal convulsions / Benign familial neonatal seizures / SeLNE", "OMIM:121200": "SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1", "ORPHA:195": "Cat-eye syndrome/Cat eye syndrome", "OMIM:115470": "CAT EYE SYNDROME; CES", "ORPHA:1951": "Epilepsy-telangiectasia syndrome/EPILEPSY-TELANGIECTASIA", "OMIM:226850": "EPILEPSY-TELANGIECTASIA", "ORPHA:1952": "Epiphyseal stippling-osteoclastic hyperplasia syndrome/Pacman dysplasia", "OMIM:167220": "PACMAN DYSPLASIA", "ORPHA:1954": "Congenital lethal erythroderma/Erythroderma, lethal congenital", "OMIM:227090": "ERYTHRODERMA, LETHAL CONGENITAL", "ORPHA:1955": "Spinocerebellar ataxia type 34/Spinocerebellar ataxia 34 / Erythrokeratodermia with ataxia / SCA34 / Spinocerebellar ataxia and erythrokeratodermia", "OMIM:133190": "SPINOCEREBELLAR ATAXIA 34; SCA34", "ORPHA:1959": "Evans syndrome / Autoimmune hemolytic anemia and autoimmune thrombocytopenia / Immune pancytopenia", "ORPHA:1962": "Exostoses-anetodermia-brachydactyly type E syndrome/Exostoses with anetodermia and brachydactyly, type E", "OMIM:133690": "EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E", "ORPHA:1964": "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome / Char-Douglas-Dungan syndrome", "ORPHA:1968": "Flat face-microstomia-ear anomaly syndrome/Simosa craniofacial syndrome / Blepharophimosis-telecanthus-microstomia syndrome / Simosa-Penchaszadeh-Bustos syndrome", "OMIM:182150": "SIMOSA CRANIOFACIAL SYNDROME", "ORPHA:1969": "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome / FACES syndrome / Friedman-Goodman syndrome", "ORPHA:1970": "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome", "ORPHA:1972": "Lethal faciocardiomelic dysplasia/Faciocardiomelic dysplasia, lethal", "OMIM:227270": "FACIOCARDIOMELIC DYSPLASIA, LETHAL", "ORPHA:1973": "Faciocardiorenal syndrome / Eastman-Bixler syndrome", "ORPHA:1974": "Autosomal recessive faciodigitogenital syndrome/Faciodigitogenital syndrome, autosomal recessive / Aarskog-like syndrome / Facio-digito-genital syndrome, Kuwait type / Teebi-Naguib-Alawadi syndrome", "OMIM:227330": "FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE", "ORPHA:1979": "Lipodystrophy due to peptidic growth factors deficiency / Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency / Hoepffner-Dreyer-Reimers syndrome / Werner-like syndrome due to combined growth factor deficiency", "ORPHA:198": "Occipital horn syndrome/Occipital horn syndrome", "OMIM:304150": "OCCIPITAL HORN SYNDROME; OHS", "ORPHA:1980": "Bilateral striopallidodentate calcinosis/Basal ganglia calcification, idiopathic, 1 / BSPDC / Cerebrovascular ferrocalcinosis / Idiopathic basal ganglia calcification / PFBC / Primary familial brain calcification", "OMIM:213600": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1", "ORPHA:1986": "Gollop-Wolfgang complex/Femur, unilateral bifid, with monodactylous ectrodactyly / Bifid femur-monodactylous ectrodactyly syndrome", "OMIM:228250": "GOLLOP-WOLFGANG COMPLEX; GWC", "ORPHA:1988": "Femoral-facial syndrome/Femoral-facial syndrome / FFS / FHUFS / Femoral hypoplasia-unusual facies syndrome", "OMIM:134780": "FEMORAL-FACIAL SYNDROME; FFS", "ORPHA:199": "Cornelia de Lange syndrome/Cornelia de Lange syndrome 1 / Brachmann-de Lange syndrome", "OMIM:122470": "CORNELIA DE LANGE SYNDROME 1; CDLS1", "ORPHA:1991": "Cleft lip with or without cleft palate / Tessier cleft number 1,2", "ORPHA:199244": "Nelson syndrome", "OMIM:611489": "CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY", "ORPHA:199251": "Ledderhose disease / Plantar fibromatosis", "ORPHA:199267": "Infantile digital fibromatosis / Inclusion body fibromatosis / Recurring digital fibrous tumor of childhood / Reye tumor", "ORPHA:199276": "Familial multiple lipomatosis/Lipomatosis, multiple", "OMIM:151900": "LIPOMATOSIS, FAMILIAL MULTIPLE; FML", "OMIM:206550": "ANGIOLIPOMATOSIS, FAMILIAL", "OMIM:115300": "HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT; HCVAD", "ORPHA:199296": "Congenital isolated ACTH deficiency/Acth deficiency, isolated", "OMIM:201400": "ACTH DEFICIENCY, ISOLATED; IAD", "ORPHA:199299": "Late-onset isolated ACTH deficiency", "ORPHA:1993": "Pai syndrome/Cleft, median, of upper lip with polyps of facial skin and nasal mucosa / Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome", "OMIM:155145": "CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA", "ORPHA:199302": "Isolated cleft lip", "ORPHA:199306": "Cleft lip/palate / Alveolar cleft lip and palate / Cleft lip and palate / Cleft lip-alveolus-palate syndrome / FLP", "ORPHA:199310": "Tetragametic chimerism / Tetragametic chimerism syndrome / 46,XX/46,XY chimerism", "ORPHA:199318": "15q13.3 microdeletion syndrome/Chromosome 15q13.3 microdeletion syndrome / Del(15)(q13.3) / Monosomy 15q13.3", "OMIM:612001": "CHROMOSOME 15q13.3 DELETION SYNDROME", "OMIM:612651": "ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO", "OMIM:612714": "EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS", "OMIM:612954": "MYOPATHY, MYOFIBRILLAR, 6; MFM6", "ORPHA:199343": "EAST syndrome/Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance / Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome / Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome / SeSAME syndrome / Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome / Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome", "OMIM:612780": "SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE; SESAMES", "ORPHA:199351": "Adult-onset dystonia-parkinsonism/Parkinson disease 14, autosomal recessive / Dystonia-parkinsonism, Paisan-Ruiz type / PARK14 / PLA2G6-related dystonia-parkinsonism", "OMIM:612953": "PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "ORPHA:199354": "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy/Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) / Maeda syndrome", "OMIM:600142": "CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL", "ORPHA:1995": "Cleft lip-retinopathy syndrome / Ausems-Wittebol Post-Hennekam syndrome / Cleft lip-cone rod dystrophy syndrome / Cleft lip-progressive retinopathy syndrome", "ORPHA:1997": "Blepharo-cheilo-odontic syndrome/Blepharocheilodontic syndrome 1 / BCD syndrome / Clefting-ectropion-conical teeth syndrome / Ectropion inferior-cleft lip and/or palate syndrome / Elschnig syndrome / Lagophthalmia-cleft lip and palate syndrome", "OMIM:119580": "BLEPHAROCHEILODONTIC SYNDROME 1; BCDS1", "ORPHA:20": "3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency / 3-hydroxy-3-methylglutaryl-CoA lyase deficiency / HMG-CoA lyase deficiency / Hydroxymethylglutaric aciduria", "OMIM:246450": "3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD", "ORPHA:2001": "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome / McPherson-Clemens syndrome", "ORPHA:2003": "Cleft lip/palate-deafness-sacral lipoma syndrome / Cleft lip/palate-hearing loss-sacral lipoma syndrome / Lowry-Yong syndrome", "ORPHA:2004": "Laryngotracheoesophageal cleft / LC / LTEC / Laryngo-tracheo-esophageal cleft / Laryngo-tracheo-esophageal diastema", "OMIM:610984": "COMPLEMENT FACTOR I DEFICIENCY; CFID", "ORPHA:2007": "Alar cartilages hypoplasia-coloboma-telecanthus syndrome/Frontonasal dysplasia with alar clefts", "OMIM:203000": "FRONTONASAL DYSPLASIA WITH ALAR CLEFTS", "ORPHA:2008": "Acrocardiofacial syndrome/Cleft palate, cardiac defect, genital anomalies, and ectrodactyly / ACFS / CCGE syndrome / Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome", "OMIM:600460": "CLEFT PALATE, CARDIAC DEFECTS, GENITAL ANOMALIES, AND ECTRODACTYLY; CCGE", "ORPHA:201": "Cowden syndrome/Cowden syndrome 1 / Cowden disease / Multiple hamartoma syndrome", "OMIM:158350": "COWDEN SYNDROME 1; CWS1", "ORPHA:2010": "Cleft palate-stapes fixation-oligodontia syndrome/Cleft palate, deafness, and oligodontia", "OMIM:216300": "CLEFT PALATE, DEAFNESS, AND OLIGODONTIA", "ORPHA:2013": "Cleft palate-large ears-small head syndrome/Say syndrome / Say-Barber-Hobbs syndrome", "OMIM:181180": "SAY SYNDROME", "OMIM:119540": "CLEFT PALATE, ISOLATED; CPI", "ORPHA:2015": "Cleft palate-short stature-vertebral anomalies syndrome / Mathieu-De Broca-Bony syndrome", "ORPHA:2016": "Cleft palate-lateral synechia syndrome/Cleft palate-lateral synechia syndrome / CPLS syndrome", "OMIM:119550": "SYNGNATHIA", "ORPHA:2017": "Sternal cleft / Cleft sternum / Sternum bifidum", "ORPHA:2019": "Femur-fibula-ulna complex / FFU complex / Femur-fibula-ulna dysostosis / Femur-fibula-ulna syndrome", "ORPHA:202": "Crandall syndrome / Alopecia-deafness-hypogonadism syndrome / Alopecia-hearing loss-hypogonadism syndrome / Alopecia-sensorineural deafness-hypogonadism syndrome / Alopecia-sensorineural hearing loss-hypogonadism syndrome", "ORPHA:2020": "Congenital fiber-type disproportion myopathy/Myopathy, congenital, with fiber-type disproportion / CFTDM", "OMIM:255310": "CONGENITAL MYOPATHY 4A, AUTOSOMAL DOMINANT; CMYO4A", "ORPHA:2021": "Fibrochondrogenesis/Fibrochondrogenesis 1", "OMIM:228520": "FIBROCHONDROGENESIS 1; FBCG1", "ORPHA:2022": "Endocardial fibroelastosis / Endomyocardial fibroelastosis", "ORPHA:2023": "Undifferentiated pleomorphic sarcoma / UPS", "ORPHA:2024": "Hereditary gingival fibromatosis/Fibromatosis, gingival, 1 / Autosomal dominant gingival fibromatosis / Autosomal dominant gingival hyperplasia / Hereditary gingival hyperplasia", "OMIM:135300": "FIBROMATOSIS, GINGIVAL, 1; GINGF1", "ORPHA:2025": "Gingival fibromatosis-facial dysmorphism syndrome", "ORPHA:2026": "Gingival fibromatosis-hypertrichosis syndrome/Hypertrichosis terminalis, generalized, with or without gingival hyperplasia / CGHT / Congenital generalized hypertrichosis terminalis / Hirsutism-congenital gingival hyperplasia syndrome / Hypertrichosis with or without gingival hyperplasia", "OMIM:135400": "HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3", "ORPHA:2027": "Gingival fibromatosis-progressive deafness syndrome/Fibromatosis, gingival, with progressive deafness / Gingival fibromatosis-progressive hearing loss syndrome / Jones syndrome", "OMIM:135550": "FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS", "ORPHA:2028": "Juvenile hyaline fibromatosis / Murray-Puretic-Drescher syndrome / Puretic syndrome", "ORPHA:2031": "Hepatic fibrosis-renal cysts-intellectual disability syndrome/Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome / Thompson-Baraitser syndrome", "OMIM:213010": "CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME 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": "INTERSTITIAL LUNG DISEASE 2; ILD2", "ORPHA:2036": "Scalp-ear-nipple syndrome/Scalp-ear-nipple syndrome / Finlay-Marks syndrome", "OMIM:181270": "SCALP-EAR-NIPPLE SYNDROME; SENS", "ORPHA:2038": "Pulmonary arteriovenous malformation / PAVM", "ORPHA:204": "Sporadic Creutzfeldt-Jakob disease / Sporadic CJD", "ORPHA:2040": "Congenital respiratory-biliary fistula", "ORPHA:2044": "Floating-Harbor syndrome/Floating-Harbor syndrome", "OMIM:136140": "FLOATING-HARBOR SYNDROME; FLHS", "ORPHA:2045": "FLOTCH syndrome / Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome", "ORPHA:2047": "Flynn-Aird syndrome/Flynn-Aird syndrome", "OMIM:136300": "FLYNN-AIRD SYNDROME", "ORPHA:2048": "Foix-Chavany-Marie syndrome / Bilateral anterior opercular syndrome / Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation / Facio-pharyngo-glosso-masticatory diplegia", "ORPHA:205": "Crigler-Najjar syndrome / Bilirubin uridinediphosphate glucuronosyltransferase deficiency / Bilirubin-UGT deficiency", "ORPHA:2050": "Cole-Carpenter syndrome/Cole-Carpenter syndrome 1 / Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome", "OMIM:112240": "COLE-CARPENTER SYNDROME 1; CLCRP1", "ORPHA:2052": "Fraser syndrome / Cryptophthalmos-syndactyly syndrome", "ORPHA:2053": "Freeman-Sheldon syndrome/Arthrogryposis, distal, type 2A / Craniocarpotarsal dysplasia / Craniocarpotarsal dystrophy / Distal arthrogryposis type 2A / Freeman-Burian syndrome / Whistling face syndrome", "OMIM:193700": "ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A", "ORPHA:2056": "Essential fructosuria/Fructosuria, essential / Fructokinase deficiency / Ketohexokinase deficiency", "OMIM:229800": "FRUCTOSURIA, ESSENTIAL", "ORPHA:2057": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome/Blepharophimosis with ptosis, syndactyly, and short stature / Frydman-Cohen-Karmon syndrome", "OMIM:210745": "BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE", "ORPHA:2058": "Fryns-Smeets-Thiry syndrome", "ORPHA:2059": "Fryns syndrome/Fryns syndrome / Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome", "OMIM:229850": "FRYNS SYNDROME; FRNS", "ORPHA:2062": "Progressive non-infectious anterior vertebral fusion / Copenhagen syndrome / PAVF", "ORPHA:2063": "Splenogonadal fusion-limb defects-micrognathia syndrome/Splenogonadal fusion with limb defects and micrognathia / SGFLD syndrome", "OMIM:183300": "SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA", "ORPHA:2064": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome/Vertebral fusion, posterior lumbosacral, with blepharoptosis / Faulk-Epstein-Jones syndrome", "OMIM:192800": "VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS", "ORPHA:206484": "Gonadoblastoma/GONADOBLASTOMA", "OMIM:424500": "GONADOBLASTOMA; GBY", "ORPHA:2065": "Galloway-Mowat syndrome / Galloway syndrome / Microcephaly-hiatus hernia-nephrotic syndrome / Nephrosis-neuronal dysmigration syndrome", "ORPHA:206549": "Anoctamin-5-related limb-girdle muscular dystrophy R12/Muscular dystrophy, limb-girdle, type 2L / Anoctamin-5-related LGMD R12 / Autosomal recessive limb-girdle muscular dystrophy type 2L / LGMD type 2L / LGMD2L / Limb-girdle muscular dystrophy type 2L", "OMIM:611307": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12", "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; MDDGC4", "ORPHA:206559": "POMT2-related limb-girdle muscular dystrophy R14/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 / Autosomal recessive limb-girdle muscular dystrophy type 2N / LGMD type 2N / LGMD2N / Limb-girdle muscular dystrophy type 2N / POMT2-related LGMD R14", "OMIM:613158": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2", "OMIM:613157": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3", "OMIM:611067": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4; HMNR4", "ORPHA:206583": "Adult polyglucosan body disease/Polyglucosan body neuropathy, adult form / APBD", "OMIM:263570": "POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM; APBN", "OMIM:613163": "GABA-TRANSAMINASE DEFICIENCY; GABATD", "CCRD:78": "强直性肌营养不良/Myotonic dystrophy; DM", "ORPHA:2067": "GAPO syndrome/GAPO syndrome / Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome", "OMIM:230740": "GAPO SYNDROME; GAPOS", "ORPHA:2069": "Gastrocutaneous syndrome/Gastrocutaneous syndrome", "OMIM:137270": "GASTROCUTANEOUS SYNDROME", "CCRD:22": "先天性肌强直/Congenital myotonia", "ORPHA:207": "Crouzon syndrome/Crouzon syndrome / Crouzon craniofacial dysostosis", "OMIM:123500": "CROUZON SYNDROME", "ORPHA:2070": "Eosinophilic gastroenteritis / EGE / Eosinophilic enteritis / Eosinophilic gastroenterocolitis", "ORPHA:2072": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome/Gaucher disease, type IIIC / Cardiovascular Gaucher disease / Gaucher disease type 3C / Gaucher-like disease", "OMIM:231005": "GAUCHER DISEASE, TYPE IIIC; GD3C", "ORPHA:2073": "Narcolepsy type 1 / Gélineau disease / Hypocretin/orexin deficiency syndrome / Narcolepsy-cataplexy", "ORPHA:2074": "Gemignani syndrome / Spinocerebellar ataxia-amyotrophy-deafness syndrome / Spinocerebellar ataxia-amyotrophy-hearing loss syndrome", "ORPHA:2075": "Genitopalatocardiac syndrome/Genitopalatocardiac syndrome / Gardner-Silengo-Wachtel syndrome", "OMIM:231060": "GENITOPALATOCARDIAC SYNDROME", "ORPHA:2077": "German syndrome / Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome", "ORPHA:2078": "Geroderma osteodysplastica/Geroderma osteodysplasticum", "OMIM:231070": "GERODERMA OSTEODYSPLASTICUM; GO", "ORPHA:2083": "Prominent glabella-microcephaly-hypogenitalism syndrome/Macdermot-Winter syndrome / MacDermot-Winter syndrome", "OMIM:247990": "MACDERMOT-WINTER SYNDROME", "ORPHA:2084": "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome/Weill-Marchesani syndrome 2, dominant / GEMSS syndrome", "OMIM:608328": "WEILL-MARCHESANI SYNDROME 2; WMS2", "ORPHA:208441": "Bilateral parasagittal parieto-occipital polymicrogyria/Polymicrogyria, bilateral temporooccipital", "OMIM:612691": "POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP", "ORPHA:2085": "Glaucoma-sleep apnea syndrome/Glaucoma - sleep apnea", "OMIM:137763": "GLAUCOMA AND SLEEP APNEA", "ORPHA:208513": "Spinocerebellar ataxia type 29/Spinocerebellar ataxia 29, congenital nonprogressive / Congenital nonprogressive spinocerebellar ataxia / SCA29", "OMIM:117360": "SPINOCEREBELLAR ATAXIA 29; SCA29", "ORPHA:2086": "Optic pathway glioma", "ORPHA:2088": "Fanconi-Bickel syndrome/Fanconi-Bickel syndrome / GSD due to GLUT2 deficiency / Glycogen storage disease due to GLUT2 deficiency / Glycogenosis due to GLUT2 deficiency", "OMIM:227810": "FANCONI-BICKEL SYNDROME; FBS", "ORPHA:2089": "Glycogen storage disease due to hepatic glycogen synthase deficiency/Glycogen storage disease 0, liver / GSD due to hepatic glycogen synthase deficiency / GSD type 0a / Glycogen storage disease due to liver glycogen synthase deficiency / Glycogen storage disease type 0a / Glycogenosis type 0a", "OMIM:240600": "GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A", "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 / Multisystem atrophy", "OMIM:146500": "MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1", "ORPHA:208981": "Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies / OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies", "ORPHA:2090": "GMS syndrome / Goniodysgenesis-intellectual disability-short stature syndrome", "ORPHA:209004": "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy", "ORPHA:1020": "Early-onset autosomal dominant Alzheimer disease / EOFAD / Early-onset familial autosomal dominant Alzheimer disease / Familial Alzheimer disease", "ORPHA:2091": "Multinodular goiter-cystic kidney-polydactyly syndrome / Daneman-Davy-Mancer syndrome / Thyroid-renal-digital anomalies", "ORPHA:2092": "Focal dermal hypoplasia/Focal dermal hypoplasia / Goltz syndrome / Goltz-Gorlin syndrome", "OMIM:305600": "FOCAL DERMAL HYPOPLASIA; FDH", "OMIM:182980": "SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK", "OMIM:158600": "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT; SMALED1", "OMIM:300673": "ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS", "ORPHA:2095": "Gorlin-Chaudhry-Moss syndrome, Progeroid syndrome, Petty type/Fontaine progeroid syndrome / Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome / Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome / Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome / GCM syndrome", "ORPHA:2963": "Gorlin-Chaudhry-Moss syndrome, Progeroid syndrome, Petty type/Fontaine progeroid syndrome / Petty syndrome / Petty-Laxova-Wiedemann syndrome", "OMIM:612289": "FONTAINE PROGEROID SYNDROME; FPS", "ORPHA:2097": "Grant syndrome/Grant syndrome", "OMIM:138930": "GRANT SYNDROME", "ORPHA:2098": "Acromesomelic dysplasia, Grebe type/Acromesomelic dysplasia 2A / Chondrodysplasia, Grebe type", "OMIM:200700": "ACROMESOMELIC DYSPLASIA 2A; AMD2A", "ORPHA:209902": "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency", "ORPHA:209905": "Brain-lung-thyroid syndrome/Choreoathetosis, hypothyroidism, and neonatal respiratory distress / Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome", "OMIM:610978": "CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP", "ORPHA:209908": "Isolated childhood apraxia of speech/Speech-language disorder-1 / Isolated CAS / Isolated developmental verbal dyspraxia / Pure CAS / Pure childhood apraxia of speech / Speech and language disorder with orofacial dyspraxia / Speech-language disorder type 1", "OMIM:602081": "SPEECH-LANGUAGE DISORDER 1; SPCH1", "OMIM:612237": "CHONDROSARCOMA, EXTRASKELETAL MYXOID", "OMIM:610356": "RETINAL CONE DYSTROPHY 3B; RCD3B", "ORPHA:209943": "IRVAN syndrome / Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome", "ORPHA:209951": "Autosomal recessive spastic paraplegia type 18/Spastic paraplegia 18, autosomal recessive / Autosomal spastic paraplegia type 18 / SPG18", "OMIM:611225": "SPASTIC PARAPLEGIA 18B, AUTOSOMAL RECESSIVE; SPG18B", "ORPHA:209956": "Idiopathic uveal effusion syndrome", "ORPHA:209967": "Episodic ataxia type 6/Episodic ataxia, type 6", "OMIM:612656": "EPISODIC ATAXIA, TYPE 6; EA6", "ORPHA:209970": "Episodic ataxia type 7/Episodic ataxia, type 7", "OMIM:611907": "EPISODIC ATAXIA, TYPE 7; EA7", "ORPHA:209981": "IRIDA syndrome/Iron-Refractory iron deficiency anemia / Iron-refractory iron deficiency anemia", "OMIM:206200": "IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA", "ORPHA:2101": "Grubben-de Cock-Borghgraef syndrome / Developmental delay-hypotonia-extremities hypertrophy syndrome", "ORPHA:210110": "Intermediate osteopetrosis/Osteopetrosis, autosomal recessive 6 / Autosomal recessive intermediate osteopetrosis", "OMIM:611497": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6", "OMIM:612852": "CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS; CRMO2", "ORPHA:210122": "Congenital alveolar capillary dysplasia/Alveolar capillary dysplasia with misalignment of pulmonary veins / ACDMPV / Alveolar capillary dysplasia with misalignment of pulmonary vessels", "OMIM:265380": "ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV", "ORPHA:210128": "Urocanic aciduria/Urocanase deficiency / Encephalopathy due to urocanase deficiency", "OMIM:276880": "UROCANASE DEFICIENCY; UROCD", "ORPHA:210136": "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome", "OMIM:612938": "GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD", "OMIM:612540": "CONGENITAL MYOPATHY 12; CMYO12", "OMIM:233910": "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B", "ORPHA:2104": "Dysmorphism-pectus carinatum-joint laxity syndrome / Guízar Vázquez-Sánchez-Manzano syndrome", "OMIM:605309": "MACROCEPHALY/AUTISM SYNDROME", "ORPHA:210571": "Dystonia 16/Dystonia 16 / DYT16 / Early-onset dystonia parkinsonism", "OMIM:612067": "DYSTONIA 16; DYT16", "ORPHA:2107": "Hall-Riggs syndrome/Hall-Riggs mental retardation syndrome", "OMIM:234250": "HALL-RIGGS SYNDROME", "ORPHA:2108": "Hallermann-Streiff syndrome/Hallermann-Streiff syndrome / François dyscephalic syndrome / Oculomandibulofacial syndrome", "OMIM:234100": "HALLERMANN-STREIFF SYNDROME; HSS", "ORPHA:211": "Familial cylindromatosis/Cylindromatosis, familial / Turban tumor syndrome", "OMIM:132700": "CYLINDROMATOSIS, FAMILIAL", "ORPHA:2110": "Hallux varus-preaxial polysyndactyly syndrome/Hallux varus and preaxial polysyndactyly / Kleiner-Holmes syndrome", "OMIM:234280": "HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY", "ORPHA:211017": "Spinocerebellar ataxia type 30/Spinocerebellar ataxia 30 / SCA30", "OMIM:613371": "SPINOCEREBELLAR ATAXIA 30; SCA30", "ORPHA:211067": "Episodic ataxia type 5/Episodic ataxia, type 5", "OMIM:613855": "EPISODIC ATAXIA, TYPE 5; EA5", "ORPHA:2111": "Cystic hamartoma of lung and kidney / Graham-Boyle-Troxell syndrome", "ORPHA:2114": "Hip dysplasia, Beukes type/Hip dysplasia, Beukes type / BFHD / Beukes familial hip dysplasia / Cilliers-Beighton syndrome / Premature degenerative osteoarthropathy of the hip", "OMIM:142669": "BEUKES HIP DYSPLASIA; HDB", "ORPHA:2115": "Harrod syndrome / Cranio-facio-digito-genital syndrome", "ORPHA:2116": "Hartnup disease/Hartnup disorder / Aminoaciduria, Hartnup type", "OMIM:234500": "HARTNUP DISORDER; HND", "ORPHA:2117": "Hartsfield syndrome/Hartsfield syndrome / Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome", "OMIM:615465": "HARTSFIELD SYNDROME; HRTFDS", "ORPHA:2118": "Hawkinsinuria/Hawkinsinuria / 4-HPPD deficiency / 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency / 4-hydroxyphenylpyruvic acid dioxygenase deficiency", "OMIM:140350": "HAWKINSINURIA; HWKS", "ORPHA:2119": "HEC syndrome/Hydrocephalus, endocardial fibroelastosis, and cataracts / Hydrocephalus-endocardial fibroelastosis-cataract syndrome", "OMIM:600559": "HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS", "ORPHA:212": "Cystathioninuria/CYSTATHIONINURIA / Cystathionase deficiency / Cystathionine gamma-lyase deficiency syndrome / Gamma-cystathionase deficiency", "OMIM:219500": "CYSTATHIONINURIA", "ORPHA:2123": "Diffuse neonatal hemangiomatosis / Multifocal infantile hemangioma with extracutenous involvement", "OMIM:140850": "HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE", "ORPHA:2126": "Solitary fibrous tumor/hemangiopericytoma / SFT", "ORPHA:2128": "Isolated hemihyperplasia/Hemihyperplasia, isolated / Hemi 3 syndrome / Hemicorporal hypertrophy / Isolated hemihypertrophy", "OMIM:235000": "HEMIHYPERPLASIA, ISOLATED; IH", "ORPHA:213": "Cystinosis / Protein defect of cystin transport", "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 / Atypical HUS / aHUS", "ORPHA:100": "Ataxia-telangiectasia/Ataxia-telangiectasia / Louis-Bar syndrome", "OMIM:208900": "ATAXIA-TELANGIECTASIA; AT", "ORPHA:100024": "Mu-heavy chain disease / mu-HCD", "ORPHA:2135": "Hennekam-Beemer syndrome/Cutaneous mastocytosis, conductive hearing loss, and microtia / Cutaneous mastocytosis-deafness-microtia syndrome / Cutaneous mastocytosis-hearing loss-microtia syndrome / Mastocytosis-short stature-deafness syndrome / Mastocytosis-short stature-hearing loss syndrome", "OMIM:248910": "CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA", "ORPHA:2136": "Hennekam syndrome / Lymphedema-lymphangiectasia-intellectual disability syndrome", "ORPHA:2137": "Autoimmune hepatitis / AIH", "ORPHA:2138": "46,XX ovotesticular disorder of sex development / 46,XX ovotesticular difference of sex development / 46,XX ovotesticular DSD", "ORPHA:2139": "Hernández-Aguirre Negrete syndrome / Intellectual disability-epilepsy-bulbous nose syndrome", "ORPHA:214": "Cystinuria/Cystinuria / Cystinuria-lysinuria syndrome", "OMIM:220100": "CYSTINURIA", "ORPHA:2140": "Congenital diaphragmatic hernia/Diaphragmatic hernia, congenital / CDH", "OMIM:142340": "DIAPHRAGMATIC HERNIA, CONGENITAL", "ORPHA:2141": "Diaphragmatic defect-limb deficiency-skull defect syndrome/Diaphragmatic defects, limb deficiencies, and ossification defects of skull / Froster-Huch syndrome", "OMIM:601163": "DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL", "ORPHA:2143": "Donnai-Barrow syndrome/Donnai-Barrow syndrome / DBS/FOAR syndrome / Diaphragmatic hernia-exomphalos-hypertelorism syndrome / Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome / Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome / Facio-oculo-acoustico-renal syndrome / Holmes-Schepens syndrome / Syndrome of ocular and facial anomalies, telecanthus and deafness / Syndrome of ocular and facial anomalies, telecanthus and hearing loss", "OMIM:222448": "DONNAI-BARROW SYNDROME; DBS", "ORPHA:2145": "Craniosynostosis, Herrmann-Opitz type", "ORPHA:2148": "Lissencephaly type 1 due to doublecortin gene mutation/Lissencephaly, X-linked, 1 / X-linked lissencephaly type 1", "OMIM:300067": "LISSENCEPHALY, X-LINKED, 1; LISX1", "ORPHA:2149": "Nodular neuronal heterotopia", "ORPHA:215": "Congenital stationary night blindness / Congenital essential nyctalopia", "ORPHA:2150": "Hirschsprung disease-type D brachydactyly syndrome/Hirschsprung disease with type D brachydactyly", "OMIM:306980": "HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY", "ORPHA:2151": "Hirschsprung disease-ganglioneuroblastoma syndrome", "ORPHA:2152": "Mowat-Wilson syndrome/Mowat-Wilson syndrome / Hirschsprung disease-intellectual disability syndrome", "OMIM:235730": "MOWAT-WILSON SYNDROME; MOWS", "OMIM:235760": "HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES", "ORPHA:2155": "Hirschsprung disease-deafness-polydactyly syndrome/Hirschsprung disease with polydactyly, renal agenesis, and deafness / Hirschsprung disease-hearing loss-polydactyly syndrome / Santos-Mateus-Leal syndrome", "OMIM:235740": "HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS", "ORPHA:2157": "Histidinemia/HISTIDINEMIA / HAL deficiency / HIS deficiency / Histidase deficiency / Histidine ammonia-lyase deficiency / Histidinuria / Hyperhistidinemia", "OMIM:235800": "HISTIDINEMIA", "ORPHA:2158": "Histidinuria-renal tubular defect syndrome/Histidinuria due to A renal tubular defect", "OMIM:235830": "HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT", "ORPHA:2162": "Holoprosencephaly/Holoprosencephaly 1 / HPE", "OMIM:236100": "HOLOPROSENCEPHALY 1; HPE1", "ORPHA:2163": "Holoprosencephaly-craniosynostosis syndrome/Holoprosencephaly, semilobar, with craniosynostosis / Camero-Lituania-Cohen syndrome / Genoa syndrome", "OMIM:601370": "HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS", "ORPHA:2165": "Holoprosencephaly-caudal dysgenesis syndrome", "ORPHA:2166": "Holoprosencephaly-postaxial polydactyly syndrome/Pseudotrisomy 13 syndrome / Pseudo-trisomy 13 syndrome", "OMIM:264480": "PSEUDOTRISOMY 13 SYNDROME", "ORPHA:1021": "Amaurosis-hypertrichosis syndrome/Amaurosis congenita, cone-rod type, with congenital hypertrichosis", "OMIM:204110": "AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS", "ORPHA:216694": "Congenitally corrected transposition of the great arteries / Congenitally corrected transposition of the great vessels / Discordant ventriculoarterial and atrioventricular connections / Double discordance / L-transposition of the great arteries / Levo-transposition of the great arteries / Ventricular inversion / Ventriculoarterial and atrioventricular discordance", "ORPHA:2167": "Holzgreve syndrome/Holzgreve syndrome / Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome / Holzgreve-Wagner-Rehder syndrome", "OMIM:236110": "HOLZGREVE SYNDROME", "OMIM:166200": "OSTEOGENESIS IMPERFECTA, TYPE I; OI1", "OMIM:166210": "OSTEOGENESIS IMPERFECTA, TYPE II; OI2", "OMIM:259420": "OSTEOGENESIS IMPERFECTA, TYPE III; OI3", "OMIM:166220": "OSTEOGENESIS IMPERFECTA, TYPE IV; OI4", "OMIM:610967": "OSTEOGENESIS IMPERFECTA, TYPE V; OI5", "ORPHA:216866": "Classic pantothenate kinase-associated neurodegeneration / NBIA1, classic form / Neurodegeneration with brain iron accumulation type 1, classic form / PKAN, classic form", "ORPHA:216873": "Atypical pantothenate kinase-associated neurodegeneration / NBIA1, atypical form / Neurodegeneration with brain iron accumulation type 1, atypical form / PKAN, atypical form", "ORPHA:2169": "Methylcobalamin deficiency type cblE/Homocystinuria-megaloblastic anemia, cbl E type / Functional methionine synthase deficiency type cblE", "OMIM:236270": "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE TYPE; HMAE", "ORPHA:217": "Isolated Dandy-Walker malformation/Dandy-Walker syndrome", "OMIM:220200": "DANDY-WALKER SYNDROME; DWS", "OMIM:250940": "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG TYPE; HMAG", "ORPHA:217012": "Spinocerebellar ataxia type 31/Spinocerebellar ataxia 31 / SCA31", "OMIM:117210": "SPINOCEREBELLAR ATAXIA 31; SCA31", "ORPHA:217017": "Zechi-Ceide syndrome/Zechi-Ceide syndrome / Occipital atretic cephalocele-unusual facies-large feet syndrome", "OMIM:612916": "ZECHI-CEIDE SYNDROME", "OMIM:612946": "HADZISELIMOVIC SYNDROME", "OMIM:608340": "CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA", "ORPHA:217059": "Isolated congenital digital clubbing/Digital clubbing, isolated congenital / Isolated nail clubbing / Isolated congenital acropachy", "OMIM:119900": "DIGITAL CLUBBING, ISOLATED CONGENITAL; DIGC", "ORPHA:100025": "Alpha-heavy chain disease / Alpha-HCD / IPSID / Immunoproliferative small intestinal disease / Mediterranean lymphoma", "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 / Limbic encephalitis with N-methyl-D-aspartate receptor antibodies / Limbic encephalitis with NMDA receptor antibodies / N-methyl-D-aspartate receptor encephalitis / NMDARE / anti-NMDA receptor encephalitis", "ORPHA:217266": "BNAR syndrome/Bifid nose with or without anorectal and renal anomalies", "OMIM:608980": "BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR", "OMIM:613092": "TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 4; ADTKD4", "ORPHA:217335": "RIN2 syndrome/Macrocephaly, alopecia, cutis laxa, and scoliosis / MACS syndrome / Macrocephaly-alopecia-cutis laxa-scoliosis syndrome / RIN2 deficiency / Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome", "OMIM:613075": "MACS SYNDROME", "ORPHA:217340": "17q21.31 microduplication syndrome / Dup(17)(q21.31) / Trisomy 17q21.31", "ORPHA:217346": "19q13.11 microdeletion syndrome/Chromosome 19q13.11 deletion syndrome, distal / Del(19)(q13.11) / Monosomy 19q13.11", "OMIM:613026": "CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL", "OMIM:613070": "LIVER FAILURE, INFANTILE, TRANSIENT; LFIT", "ORPHA:217377": "Microduplication Xp11.22p11.23 syndrome/Chromosome xp11.23-p11.22 duplication syndrome / Dup(X)(p11.22p11.23) / Trisomy Xp11.22p11.23", "OMIM:300801": "CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME", "OMIM:613068": "NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY; NCFTD", "ORPHA:217385": "17p13.3 microduplication syndrome / 17p13.3 duplication syndrome / Dup(17)(p13.3) / Trisomy 17p13.3", "ORPHA:217390": "Combined immunodeficiency due to DOCK8 deficiency/Hyper-Ige recurrent infection syndrome, autosomal recessive / CID due to DOCK8 deficiency / Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency / DOCK8 immunodeficiency syndrome", "OMIM:243700": "HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; HIES2", "OMIM:613710": "THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4", "OMIM:613102": "HYPOTRICHOSIS AND RECURRENT SKIN VESICLES; HYPTSV", "OMIM:145701": "HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1", "OMIM:613116": "THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11", "ORPHA:217563": "Neonatal acute respiratory distress due to SP-B deficiency/Surfactant metabolism dysfunction, pulmonary, 1 / Neonatal acute respiratory distress syndrome / Neonatal RDS / Neonatal acute respiratory distress due to surfactant protein deficiency", "OMIM:265120": "SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1", "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 / Neurosensory deafness with dilated cardiomyopathy / Neurosensory hearing loss with dilated cardiomyopathy / Sensorineural hearing loss with dilated cardiomyopathy", "OMIM:605362": "CARDIOMYOPATHY, DILATED, 1J; CMD1J", "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; ARVD1", "ORPHA:2177": "Hydranencephaly", "ORPHA:218": "Darier disease/Darier-White disease / Keratosis follicularis", "OMIM:124200": "DARIER-WHITE DISEASE; DAR", "ORPHA:2180": "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome / Ferlini-Ragno-Calzolari syndrome / Waaler-Aarskog syndrome", "ORPHA:2181": "Hydrocephaly-tall stature-joint laxity syndrome/Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis / Daish-Hardman-Lamont syndrome", "OMIM:236660": "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 / Bickers-Adams syndrome / HSAS / X-linked HSAS / X-linked acqueductal stenosis / X-linked hydrocephalus / X-linked hydrocephalus with stenosis of aqueduct of Sylvius", "OMIM:307000": "HYDROCEPHALUS, CONGENITAL, X-LINKED; HYCX", "ORPHA:2183": "Hydrocephalus-obesity-hypogonadism syndrome / Sengers-Hamel-Otten syndrome", "ORPHA:2184": "Hydrocephaly-low insertion umbilicus syndrome / Palmer-Pagon syndrome", "ORPHA:2185": "Congenital hydrocephalus", "ORPHA:2189": "Hydrolethalus", "ORPHA:219": "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6/Muscular dystrophy, limb-girdle, type 2F / Autosomal recessive limb-girdle muscular dystrophy type 2F / Delta-sarcoglycan-related LGMD R6 / Delta-sarcoglycanopathy / LGMD due to delta-sarcoglycan deficiency / LGMD type 2F / LGMD2F / Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency / Limb-girdle muscular dystrophy type 2F", "OMIM:601287": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6; LGMDR6", "OMIM:222730": "DICARBOXYLIC AMINOACIDURIA; DCBXA", "ORPHA:2196": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement/Hypomagnesemia 5, renal, with or without ocular involvement / FHHNC with severe ocular involvement / Hypercalciuria-bilateral macular coloboma syndrome / Meier-Blumberg-Imahorn syndrome", "OMIM:248190": "HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT; HOMG5", "ORPHA:2197": "Idiopathic hypercalciuria", "ORPHA:2198": "Palmoplantar keratoderma-esophageal carcinoma syndrome/Tylosis with esophageal cancer / Bennion-Patterson syndrome / Howell-Evans syndrome / Keratosis palmoplantaris-esophageal carcinoma syndrome / Palmoplantar hyperkeratosis-esophageal carcinoma syndrome / Tylosis-oesophageal carcinoma syndrome", "OMIM:148500": "TYLOSIS WITH ESOPHAGEAL CANCER; TOC", "ORPHA:2199": "Epidermolytic palmoplantar keratoderma/Palmoplantar keratoderma, epidermolytic / Diffuse erythrodermic palmoplantar keratoderma, Voerner type / Diffuse erythrodermic palmoplantar keratoderma, Vörner type / EPPK / Epidermolytic palmoplantar keratoderma of Voerner / Epidermolytic palmoplantar keratoderma of Vörner", "OMIM:144200": "PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 1; EPPK1", "ORPHA:22": "Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency / 4-hydroxybutyric aciduria / Gamma-hydroxybutyric aciduria / SSADH deficiency", "OMIM:271980": "SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD", "ORPHA:220": "Denys-Drash syndrome/Denys-Drash syndrome / Wilms tumor-DSD syndrome / Wilms tumor-disorder of sex development syndrome", "OMIM:194080": "DENYS-DRASH SYNDROME; DDS", "ORPHA:2200": "Focal palmoplantar and gingival keratoderma/Keratosis, focal palmoplantar and gingival / Focal palmoplantar and gingival hyperkeratosis", "OMIM:148730": "KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL", "ORPHA:1027": "Autosomal recessive amelia/Amelia, autosomal recessive", "OMIM:601360": "AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME; PAPPAS", "ORPHA:2201": "Palmoplantar keratoderma-spastic paralysis syndrome / Palmoplantar hyperkeratosis-spastic paralysis syndrome / Powell-Venencie-Gordon syndrome", "ORPHA:2202": "Palmoplantar keratoderma-deafness syndrome/Keratoderma, palmoplantar, with deafness / PPK-deafness syndrome / Palmoplantar hyperkeratosis-deafness syndrome / Palmoplantar hyperkeratosis-hearing loss syndrome / Palmoplantar keratoderma-hearing loss syndrome", "OMIM:148350": "KERATODERMA, PALMOPLANTAR, WITH DEAFNESS", "ORPHA:220295": "Xeroderma pigmentosum-Cockayne syndrome complex / XP/CS complex", "ORPHA:2203": "Hyperlysinemia/Hyperlysinemia, type I / Hyperlysinemia type I / Lysine alpha-ketoglutarate reductase deficiency", "OMIM:238700": "HYPERLYSINEMIA, TYPE I", "ORPHA:220393": "Diffuse cutaneous systemic sclerosis / Diffuse cutaneous systemic scleroderma / Progressive cutaneous systemic scleroderma / Progressive cutaneous systemic sclerosis", "ORPHA:2204": "Dysplastic cortical hyperostosis / Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type / Kozlowski-Tsuruta syndrome", "ORPHA:220402": "Limited cutaneous systemic sclerosis / Limited cutaneous systemic scleroderma", "OMIM:601709": "QUEBEC PLATELET DISORDER; QPD", "OMIM:614009": "BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13", "ORPHA:220460": "Attenuated familial adenomatous polyposis / AFAP / Attenuated FAP / Attenuated familial polyposis coli", "OMIM:245590": "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE; GHISID1", "ORPHA:220493": "Joubert syndrome with ocular defect / JS-O / Joubert syndrome with retinopathy", "ORPHA:220497": "Joubert syndrome with renal defect/Joubert syndrome 4 / JS-R", "OMIM:609583": "JOUBERT SYNDROME 4; JBTS4", "ORPHA:2206": "Ankylosing vertebral hyperostosis with tylosis/Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included", "OMIM:106400": "ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS", "ORPHA:1028": "Amelo-onycho-hypohidrotic syndrome/Ameloonychohypohidrotic syndrome / Ameloonychohypohidrotic ectodermal dysplasia", "OMIM:104570": "AMELOONYCHOHYPOHIDROTIC SYNDROME", "ORPHA:2209": "Maternal phenylketonuria / Hyperphenylalaninemic embryopathy / Maternal PKU / Maternal hyperphenylalaninemia / Phenylketonuric embryopathy", "ORPHA:221": "Dermatomyositis / Adult dermatomyositis", "ORPHA:221008": "Rothmund-Thomson syndrome type 1 / Poikiloderma of Rothmund-Thomson type 1 / RTS1", "ORPHA:221016": "Rothmund-Thomson syndrome type 2 / Poikiloderma of Rothmund-Thomson type 2 / RTS2", "OMIM:173700": "POIKILODERMA, HEREDITARY SCLEROSING", "OMIM:615704": "POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP", "OMIM:604173": "POIKILODERMA WITH NEUTROPENIA; PN", "ORPHA:221054": "Acrocephalopolydactyly/Acrocephalopolydactylous dysplasia / Elejalde acrocephalopolydactyly", "OMIM:200995": "ACROCEPHALOPOLYDACTYLOUS DYSPLASIA", "ORPHA:221061": "Familial cerebral cavernous malformation/Cerebral cavernous malformations 1 / Familial brain cavernous angioma / Familial cerebral cavernoma / Hereditary brain cavernous angioma / Hereditary cerebral cavernoma / Hereditary cerebral cavernous malformation", "OMIM:116860": "CEREBRAL CAVERNOUS MALFORMATIONS; CCM", "ORPHA:100026": "Gamma-heavy chain disease / Franklin disease / Gamma-HCD", "ORPHA:1031": "Enamel-renal syndrome/Amelogenesis imperfecta, type IG (enamel-renal syndrome) / Amelogenesis imperfecta-nephrocalcinosis syndrome", "OMIM:204690": "AMELOGENESIS IMPERFECTA, TYPE IG; AI1G", "OMIM:141405": "HEMIFACIAL SPASM, FAMILIAL", "ORPHA:221091": "Trigeminal neuralgia/Trigeminal neuralgia", "OMIM:190400": "TRIGEMINAL NEURALGIA", "ORPHA:2211": "Hypertelorism-hypospadias-polysyndactyly syndrome/Acrofrontofacionasal dysostosis 2 / Acrofrontofacionasal dysostosis type 2 / Acrofrontofacionasal syndrome type 2 / Naguib-Richieri-Costa syndrome", "OMIM:239710": "ACROFRONTOFACIONASAL DYSOSTOSIS 2", "ORPHA:221120": "Pseudoaminopterin syndrome/Aminopterin syndrome sine aminopterin / ASSA / Aminopterin syndrome-like sine aminopterin", "OMIM:600325": "AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA", "OMIM:222690": "DIBASIC AMINO ACIDURIA I", "OMIM:225790": "PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH", "ORPHA:221139": "Combined immunodeficiency with faciooculoskeletal anomalies/Roifman-Chitayat syndrome / Combined immunodeficiency with facio-oculo-skeletal anomalies", "OMIM:613328": "ROIFMAN-CHITAYAT SYNDROME; ROCHIS", "OMIM:613177": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C", "ORPHA:2213": "Hypertelorism-microtia-facial clefting syndrome/Hypertelorism, microtia, facial clefting syndrome / Bixler-Christian-Gorlin syndrome / HMC syndrome", "OMIM:239800": "HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME", "ORPHA:2215": "Multiple pterygium-malignant hyperthermia syndrome/Contractures, congenital, torticollis, and malignant hyperthermia / Froster-Iskenius-Waterson-Hall syndrome / Malignant hyperthermia-arthrogryposis-torticollis syndrome", "OMIM:217150": "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": "HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY", "ORPHA:222": "Erosive pustular dermatosis of the scalp", "ORPHA:1035": "Beta-mercaptolactate cysteine disulfiduria/Mercaptolactate-Cysteine disulfiduria / 3-mercaptopyruvate sulfurtransferase deficiency / Ampola syndrome / MCDU", "OMIM:249650": "MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU", "ORPHA:2220": "Hypertrichosis cubiti/Hairy elbows / Hairy elbows syndrome / MacDermot-Patton-Williams syndrome", "OMIM:139600": "HAIRY ELBOWS", "ORPHA:2221": "Acquired hypertrichosis lanuginosa", "ORPHA:2222": "Hypertrichosis lanuginosa congenita / Hypertrichosis universalis", "OMIM:600627": "HYPERTRYPTOPHANEMIA; HYPTRP", "ORPHA:2228": "Hypodontia-dysplasia of nails syndrome/Witkop syndrome / Hypodontia-nail dysgenesis syndrome / Tooth and nail syndrome", "OMIM:189500": "WITKOP SYNDROME", "ORPHA:2229": "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome/Malouf syndrome / Cardiogenital syndrome / Najjar syndrome", "OMIM:212112": "CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM", "ORPHA:223": "Nephrogenic diabetes insipidus / Arginine vasopressin resistance", "ORPHA:2232": "Primary hypergonadotropic hypogonadism-partial alopecia syndrome/Hypogonadism, primary, and partial alopecia / Al Awadi-Farag-Teebi syndrome", "OMIM:241090": "HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA", "ORPHA:2233": "Hypogonadism-mitral valve prolapse-intellectual disability syndrome / Cantalamessa-Baldini-Ambrosi syndrome", "ORPHA:2234": "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome/Hypogonadism, male, with mental retardation and skeletal anomalies / Sohval-Soffer syndrome", "OMIM:307500": "HYPOGONADISM, MALE, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND SKELETAL ANOMALIES", "ORPHA:2235": "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome / Chang-Davidson-Carlson syndrome", "ORPHA:2237": "Hypoparathyroidism-sensorineural deafness-renal disease syndrome/Hypoparathyroidism, sensorineural deafness, and renal dysplasia / Barakat syndrome / HDR syndrome / Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome", "OMIM:146255": "HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME; HDRS", "ORPHA:2238": "Familial isolated hypoparathyroidism", "ORPHA:2239": "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland/Hypoparathyroidism, X-linked", "OMIM:307700": "HYPOPARATHYROIDISM, X-LINKED; HYPX", "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 / Berdon syndrome / MMIHS / Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome", "OMIM:249210": "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1; MMIHS1", "ORPHA:2246": "Cerebellar hypoplasia-tapetoretinal degeneration syndrome", "ORPHA:2248": "Hypoplastic left heart syndrome/Hypoplastic left heart syndrome / HLHS", "OMIM:241550": "HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1", "ORPHA:2249": "Ulna hypoplasia-intellectual disability syndrome/Ulnar hypoplasia with mental retardation", "OMIM:276821": "ULNAR HYPOPLASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT", "ORPHA:225": "Maternally-inherited diabetes and deafness/Diabetes and deafness, maternally inherited / NON RARE IN EUROPE: Maternally-inherited diabetes and deafness / NON RARE IN EUROPE: MIDD / NON RARE IN EUROPE: Maternally-inherited diabetes and hearing loss / NON RARE IN EUROPE: Mitochondrial diabetes", "OMIM:520000": "DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD", "ORPHA:2250": "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome / Bosma arhinia-microphthalmia syndrome / Bosma-Henkin-Christiansen syndrome", "ORPHA:2251": "Thumb deformity-alopecia-pigmentation anomaly syndrome/Thumb deformity and alopecia / Sparse hair-short stature-skin anomalies syndrome", "OMIM:188150": "THUMB DEFORMITY AND ALOPECIA", "OMIM:604250": "HEMOCHROMATOSIS, TYPE 3; HFE3", "ORPHA:225147": "Sporadic infantile bilateral striatal necrosis / ABSN / Acute bilateral striatal necrosis / Sporadic IBSN / Sporadic infantile striatonigral degeneration / Sporadic infantile striatonigral necrosis", "ORPHA:225154": "Familial infantile bilateral striatal necrosis/Striatonigral degeneration, infantile / Familial IBSN / Familial infantile striatonigral degeneration / Familial infantile striatonigral necrosis", "OMIM:271930": "STRIATONIGRAL DEGENERATION, INFANTILE; SNDI", "ORPHA:2252": "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome/Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema / Schmitt-Gillenwater-Kelly syndrome", "OMIM:179250": "RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA", "ORPHA:2253": "Foveal hypoplasia-presenile cataract syndrome / O'Donnell-Pappas syndrome", "ORPHA:2255": "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome/Pancreatic agenesis and congenital heart defects / PACHD / Pancreatic agenesis and congenital heart defects syndrome / Yorifuji-Okuno syndrome", "OMIM:600001": "HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA", "ORPHA:2256": "Fibulo-ulnar hypoplasia-renal anomalies syndrome / Saito-Kuba-Tsuruta syndrome", "ORPHA:103909": "Trehalase deficiency/Trehalase deficiency / Isolated trehalose intolerance", "OMIM:612119": "TREHALASE DEFICIENCY", "ORPHA:2257": "Primary pulmonary hypoplasia/Pulmonary hypoplasia, primary", "OMIM:265430": "PULMONARY HYPOPLASIA, PRIMARY", "ORPHA:226": "Dihydropteridine reductase deficiency/Hyperphenylalaninemia, bh4-deficient, C / Hyperphenylalaninemia due to dihydropteridine reductase deficiency / PKU type 2 / Phenylketonuria type 2", "OMIM:261630": "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C", "ORPHA:2261": "Hypospadias-intellectual disability, Goldblatt type syndrome / Goldblatt-Wallis 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 / Lopes-Marques de Faria syndrome", "ORPHA:2268": "ICF syndrome / Immunodeficiency-centromeric instability-facial anomalies syndrome / Immunodeficiency-centromeric instability-facial dysmorphism syndrome", "ORPHA:2269": "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome/Ichthyosis with alopecia, eclabion, ectropion, and mental retardation / Jagell-Holmgren-Hofer syndrome", "OMIM:242510": "ICHTHYOSIS WITH ALOPECIA, ECLABIUM, ECTROPION, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "ORPHA:227": "Diphallia", "ORPHA:103918": "Tropical pancreatitis/Tropical calcific pancreatitis / TCP / Tropical calcific chronic pancreatitis", "OMIM:608189": "TROPICAL CALCIFIC PANCREATITIS", "ORPHA:2271": "Congenital ichthyosis-microcephalus-tetraplegia syndrome / Congenital ichthyosis-microcephalus-quadriplegia syndrome", "ORPHA:2273": "Ichthyosis follicularis-alopecia-photophobia syndrome/IFAP syndrome with or without BRESHECK syndrome / Ichthyosis follicularis-atrichia-photophobia syndrome", "OMIM:308205": "IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME; IFAP1", "ORPHA:2274": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome/Ichthyosis, hepatosplenomegaly, and cerebellar degeneration / Dykes-Marks-Harper syndrome", "OMIM:242520": "ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION", "ORPHA:227510": "Multiple system atrophy, cerebellar type / MSA, cerebellar type / MSA-c / Sporadic OPCA type 1 / Sporadic olivopontocerebellar atrophy type 1", "OMIM:136880": "FUNDUS ALBIPUNCTATUS", "ORPHA:2278": "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome/Ichthyosis, mental retardation, dwarfism, and renal impairment / Passwell-Goodman-Siprkowski syndrome", "OMIM:242530": "ICHTHYOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, DWARFISM, AND RENAL IMPAIRMENT", "OMIM:612989": "OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7", "ORPHA:227982": "Autoimmune polyendocrinopathy type 3 / APS type 3 / APS3 / Autoimmune polyendocrine syndrome type 3 / Autoimmune polyglandular syndrome type 3", "ORPHA:227990": "Autoimmune polyendocrinopathy type 4 / APS type 4 / APS4 / Autoimmune polyendocrine syndrome type 4 / Autoimmune polyglandular syndrome type 4", "OMIM:615518": "IMMUNODEFICIENCY 13; IMD13", "OMIM:615401": "IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION; IMD8", "ORPHA:228116": "Hughes-Stovin syndrome", "OMIM:603829": "VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1", "CCRD:76": "多发性硬化/Multiple sclerosis; MS", "ORPHA:228169": "Autosomal dominant striatal neurodegeneration/Striatal degeneration, autosomal dominant / ADSD", "OMIM:609161": "STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1; ADSD1", "OMIM:613287": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N", "ORPHA:228190": "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome/Patent ductus arteriosus and bicuspid aortic valve with hand anomalies / Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome", "OMIM:604381": "PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES", "ORPHA:2282": "Dysmorphism-short stature-deafness-disorder of sex development syndrome / Dysmorphism-short stature-deafness-difference of sex development syndrome / Dysmorphism-short stature-hearing loss-disorder of sex development syndrome / Ieshima-Koeda-Inagaki 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 OPTIC ATROPHY", "ORPHA:228240": "Elastoderma", "ORPHA:1040": "Metaphyseal anadysplasia / Maroteaux-Verloes-Stanescu syndrome / Regressive metaphyseal dysplasia", "ORPHA:228277": "Familial anetoderma / Hereditary anetoderma / Hereditary macular atrophy", "ORPHA:228302": "Carnitine palmitoyl transferase II deficiency, myopathic form/Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced / CPT2, adult-onset form / CPT2, myopathic form / CPTII, adult-onset form / CPTII, myopathic form / Carnitine palmitoyl transferase II deficiency, adult-onset form / Carnitine palmitoyl transferase deficiency type 2, adult-onset form / Carnitine palmitoyl transferase deficiency type 2, myopathic form", "OMIM:255110": "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED", "ORPHA:228305": "Carnitine palmitoyl transferase II deficiency, severe infantile form/Carnitine palmitoyltransferase II deficiency, infantile / CPT2, hepatocardiomuscular form / CPT2, severe infantile form / CPTII, hepatocardiomuscular form / CPTII, severe infantile form / Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form / Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form / Carnitine palmitoyl transferase deficiency type 2, severe infantile form", "OMIM:600649": "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE", "ORPHA:228308": "Carnitine palmitoyl transferase II deficiency, neonatal form/Carnitine palmitoyltransferase II deficiency, lethal neonatal / CPT2, lethal systemic form / CPT2, neonatal form / CPTII, lethal systemic form / CPTII, neonatal form / Carnitine palmitoyl transferase II deficiency, lethal systemic form / Carnitine palmitoyl transferase deficiency type 2, lethal systemic form / Carnitine palmitoyl transferase deficiency type 2, neonatal form", "OMIM:608836": "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL", "ORPHA:228312": "Autoimmune hemolytic anemia, cold type / Cold AIHA / cAHA / cAIHA", "OMIM:256730": "CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1", "OMIM:610127": "CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10", "OMIM:204300": "CEROID LIPOFUSCINOSIS, NEURONAL, 6B (KUFS TYPE); CLN6B", "OMIM:162350": "CEROID LIPOFUSCINOSIS, NEURONAL, 4 (KUFS TYPE); CLN4", "ORPHA:228346": "CLN3 disease/Ceroid lipofuscinosis, neuronal, 3 / Batten-Spielmeyer-Vogt-Sjögren disease / Classic juvenile NCL / Classic juvenile neuronal ceroid lipofuscinosis / Neuronal ceroid lipofuscinosis type 3", "OMIM:204200": "CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3", "OMIM:204500": "CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2", "OMIM:600143": "CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8", "OMIM:609055": "CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9", "ORPHA:228360": "CLN5 disease/Ceroid lipofuscinosis, neuronal, 5 / Neuronal ceroid lipofuscinosis type 5", "OMIM:256731": "CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5", "OMIM:601780": "CEROID LIPOFUSCINOSIS, NEURONAL, 6A; CLN6A", "OMIM:610951": "CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7", "ORPHA:228371": "Foodborne botulism / Intoxication botulism", "ORPHA:228384": "5q14.3 microdeletion syndrome / Del(5)(q14.3) / Monosomy 5q14.3", "OMIM:613330": "SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD", "ORPHA:228390": "Frontonasal dysplasia-alopecia-genital anomalies syndrome/Frontonasal dysplasia 2 / ALX4-related FNDAG / Craniofrontonasal dysplasia with alopecia and hypogonadism / Frontonasal dysplasia type 2 / Frontonasal dysplasia with alopecia and genital abnomality", "OMIM:613451": "FRONTONASAL DYSPLASIA 2; FND2", "ORPHA:228396": "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome", "ORPHA:228399": "8q12 microduplication syndrome / Dup(8)(q12) / Trisomy 8q12", "ORPHA:228402": "2q23.1 microdeletion syndrome / Del(2)(q23.1) / Monosomy 2q23.1 / Pseudo-Angelman syndrome", "ORPHA:228410": "Polyvalvular heart disease syndrome / Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome / PHD syndrome / TAB2-related syndrome", "ORPHA:228415": "5q35 microduplication syndrome / Dup(5)(q35) / Trisomy 5q35", "OMIM:614172": "IMMUNODEFICIENCY 21; IMD21", "ORPHA:228426": "Syndromic multisystem autoimmune disease due to Itch deficiency/Autoimmune disease, multisystem, with facial dysmorphism", "OMIM:613385": "AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD", "ORPHA:2285": "Primary basilar invagination/Basilar impression, primary / Bull-Nixon syndrome", "OMIM:109500": "BASILAR IMPRESSION, PRIMARY", "ORPHA:2287": "Fused mandibular incisors/Incisors, fused mandibular", "OMIM:147251": "INCISORS, FUSED MANDIBULAR", "ORPHA:2289": "Neuronal intranuclear inclusion disease/Neuronal intranuclear inclusion disease", "OMIM:603472": "NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID", "ORPHA:229": "Familial aortic dissection / Annuloaortic ectasia / Cystic medial necrosis of aorta", "ORPHA:2290": "Microvillus inclusion disease/Diarrhea 2, with microvillous atrophy / Congenital microvillous atrophy / Congenital microvillus atrophy / MVID / Microvillous inclusion disease", "OMIM:251850": "DIARRHEA 2, WITH MICROVILLUS ATROPHY, WITH OR WITHOUT CHOLESTASIS; DIAR2", "ORPHA:2291": "Congenital velopharyngeal incompetence/Palatopharyngeal incompetence", "OMIM:167500": "PALATOPHARYNGEAL INCOMPETENCE", "ORPHA:2292": "Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome / OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome", "ORPHA:2295": "Familial articular hypermobility syndrome/Joint laxity, familial / Familial joint instability syndrome / Familial joint laxity / Joint instability syndrome", "OMIM:147900": "JOINT LAXITY, FAMILIAL", "ORPHA:2297": "Insulin-resistance syndrome type A", "ORPHA:229717": "Isolated agammaglobulinemia / Isolated hypogammaglobulinemia", "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 / ASA deficiency / ASL deficiency / Argininosuccinase deficiency / Argininosuccinatelyase deficiency / Argininosuccinic acid lyase deficiency", "OMIM:207900": "ARGININOSUCCINIC ACIDURIA", "ORPHA:230": "Dopamine beta-hydroxylase deficiency/Orthostatic hypotension 1, due to DBH deficiency", "OMIM:223360": "ORTHOSTATIC HYPOTENSION 1; ORTHYP1", "ORPHA:2300": "Multiple intestinal atresia / Familial intestinal polyatresia syndrome", "ORPHA:2301": "Congenital short bowel syndrome/Congenital short bowel syndrome", "OMIM:615237": "CONGENITAL SHORT BOWEL SYNDROME; CSBS", "ORPHA:2305": "Isotretinoin syndrome / Isotretinoin embryopathy / Retinoic acid embryopathy / Retinoids embryopathy", "ORPHA:2306": "Isotretinoin-like syndrome/Isotretinoin embryopathy-like syndrome / Kawashima syndrome / Microtia-aortic arch syndrome", "OMIM:243440": "ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME", "ORPHA:2307": "IVIC syndrome/IVIC syndrome / Oculo-oto-radial syndrome / Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia", "OMIM:147750": "IVIC SYNDROME; IVIC", "ORPHA:2308": "Jacobsen syndrome/Jacobsen syndrome / 11q terminal deletion syndrome / Chromosome 11q deletion syndrome / Del(11)(q23.3) / Del(11)(qter) / Distal deletion 11q / Distal monosomy 11q / Monosomy 11qter / Telomeric deletion 11q", "OMIM:147791": "JACOBSEN SYNDROME; JBS", "ORPHA:230800": "Toxin-mediated infectious botulism / Toxin-mediated infective botulism", "ORPHA:230839": "Classical-like Ehlers-Danlos syndrome type 1/Ehlers-Danlos syndrome, classic-like / Classical-like EDS type 1 / Ehlers-Danlos syndrome due to tenascin-X deficiency / clEDS type 1", "OMIM:606408": "EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1; EDSCLL1", "ORPHA:230851": "Cardiac-valvular Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form / Cardiac-valvular EDS / cvEDS", "OMIM:225320": "EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE; EDSCV", "ORPHA:2309": "Pachyonychia congenita / PC", "ORPHA:231": "Dracunculiasis / Dracunculosis / Guinea worm disease / Medina worm disease / Medinensis", "ORPHA:2310": "Absence deformity of leg-cataract syndrome/Leg, absence deformity of, with congenital cataract", "OMIM:246000": "LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT", "OMIM:133000": "ERYTHEMA PALMARE HEREDITARIUM", "OMIM:151001": "LENTIGINOSIS, INHERITED PATTERNED", "ORPHA:2311": "Autosomal recessive spondylocostal dysostosis / Jarcho-Levin syndrome", "ORPHA:231111": "Drug-induced lupus erythematosus / DILE", "ORPHA:231154": "Combined immunodeficiency due to partial RAG1 deficiency / CID due to partial RAG1 deficiency / CID with expansion of gamma delta T cells / Combined immunodeficiency with expansion of gamma delta T cells", "ORPHA:231160": "Familial cerebral saccular aneurysm/Aneurysm, intracranial berry, 1 / Familial berry aneurysm / Familial intracranial saccular aneurysm", "OMIM:105800": "ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1", "OMIM:130900": "AMELOGENESIS IMPERFECTA, TYPE IIIA; AI3A", "ORPHA:231169": "Usher syndrome type 1 / USH1", "ORPHA:231178": "Usher syndrome type 2 / USH2", "ORPHA:231183": "Usher syndrome type 3 / USH3", "OMIM:237900": "HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN", "ORPHA:231214": "Beta-thalassemia major / Cooley anemia / Mediterranean anemia", "ORPHA:231222": "Beta-thalassemia intermedia", "ORPHA:231226": "Dominant beta-thalassemia/Thalassemia-beta, dominant inclusion-body / Inclusion body beta-thalassemia", "OMIM:603902": "BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE", "ORPHA:231237": "Delta-beta-thalassemia", "ORPHA:231242": "Hemoglobin C-beta-thalassemia syndrome / HbC-beta-thalassemia syndrome", "ORPHA:231249": "Hemoglobin E-beta-thalassemia syndrome / HbE-beta-thalassemia syndrome", "ORPHA:231393": "Beta-thalassemia-X-linked thrombocytopenia syndrome/Thrombocytopenia with beta-thalassemia, X-linked / XLTT", "OMIM:314050": "THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT", "ORPHA:2314": "Autosomal dominant hyper-IgE syndrome/Hyper-IgE recurrent infection syndrome / Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency / AD-HIES due to STAT3 deficiency / Autosomal dominant HIES due to STAT3 deficiency / Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency / Buckley syndrome / Job syndrome", "OMIM:147060": "HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES1", "ORPHA:231401": "Alpha-thalassemia-myelodysplastic syndrome/Alpha-Thalassemia myelodysplasia syndrome / ATMDS / Acquired HbH disease / Acquired hemoglobin H disease", "OMIM:300448": "ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS", "ORPHA:231445": "Paraparetic variant of Guillain-Barré syndrome / Paraparetic variant of GBS", "ORPHA:2315": "Johanson-Blizzard syndrome/Johanson-Blizzard syndrome / JBS", "OMIM:243800": "JOHANSON-BLIZZARD SYNDROME; JBS", "OMIM:614076": "HERMANSKY-PUDLAK SYNDROME 7; HPS7", "OMIM:614077": "HERMANSKY-PUDLAK SYNDROME 8; HPS8", "ORPHA:231568": "Autosomal dominant generalized dystrophic epidermolysis bullosa/Epidermolysis bullosa dystrophica, autosomal dominant / Generalized DDEB", "OMIM:131750": "EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB", "ORPHA:231580": "Primary unilateral adrenal hyperplasia / PUAH", "ORPHA:2316": "Johnson neuroectodermal syndrome / Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome / Alopecia-anosmia-deafness-hypogonadism syndrome / Johnson-McMillin syndrome", "ORPHA:231625": "Adrenocortical carcinoma with pure aldosterone hypersecretion / Pure APAC / Pure aldosterone-producing adrenocortical carcinoma / Pure aldosterone-secreting adrenocortical carcinoma", "ORPHA:231632": "Ectopic aldosterone-producing tumor / Extra-adrenal aldosterone-producing tumor", "OMIM:262400": "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A", "OMIM:612781": "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B", "OMIM:618157": "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4", "OMIM:173100": "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2", "ORPHA:231720": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome/Deafness, sensorineural, with pituitary dwarfism / Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome", "OMIM:221750": "PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3", "ORPHA:231736": "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome / MPPC syndrome", "ORPHA:2318": "Joubert syndrome with oculorenal defect/Arima syndrome / CORS / Cerebellooculorenal syndrome / Dekaban-Arima syndrome / JS type B / JS-OR / Joubert syndrome with Senior-Loken syndrome", "OMIM:243910": "ARIMA SYNDROME", "ORPHA:2319": "Juberg-Hayward syndrome/Cleft lip/palate with abnormal thumbs and microcephaly / Cleft lip/palate-abnormal thumbs-microcephaly syndrome / Orocraniodigital syndrome", "OMIM:216100": "JUBERG-HAYWARD SYNDROME; JHS", "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": "SICKLE CELL DISEASE", "ORPHA:2321": "Jung syndrome/Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "OMIM:601427": "ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS", "ORPHA:2322": "Kabuki syndrome/Kabuki syndrome 1 / Kabuki make-up syndrome / Niikawa-Kuroki syndrome", "OMIM:147920": "KABUKI SYNDROME 1; KABUK1", "ORPHA:2323": "Sanjad-Sakati syndrome/Hypoparathyroidism-retardation-dysmorphism syndrome / HRD syndrome / Hypoparathyroidism-intellectual disability-dysmorphism syndrome / Hypoparathyroidism-short stature-intellectual disability-seizures syndrome / Richardson-Kirk syndrome / SSS", "OMIM:241410": "HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS", "ORPHA:2324": "Osteopenia-intellectual disability-sparse hair syndrome/Osteopenia and sparse hair / Kaler-Garrity-Stern syndrome", "OMIM:259690": "OSTEOPENIA AND SPARSE HAIR", "ORPHA:2325": "Epidermolysis bullosa simplex with anodontia/hypodontia / EBS with anodontia/hypodontia / Kallin syndrome", "ORPHA:2326": "Kallmann syndrome-heart disease syndrome", "ORPHA:2328": "Kapur-Toriello syndrome/Kapur-Toriello syndrome / Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome", "OMIM:244300": "KAPUR-TORIELLO SYNDROME", "OMIM:183800": "SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS", "ORPHA:233": "Duane retraction syndrome/Duane retraction syndrome 1 / DRS / DURS / Duane syndrome / Stilling-Turk-Duane syndrome", "OMIM:126800": "DUANE RETRACTION SYNDROME 1; DURS1", "ORPHA:2330": "Kasabach-Merritt syndrome/Hemangioma-Thrombocytopenia syndrome / Kasabach-Merritt phenomenon / Hemangioma-thrombocytopenia syndrome", "OMIM:141000": "HEMANGIOMA-THROMBOCYTOPENIA SYNDROME", "ORPHA:2331": "Kawasaki disease / Mucocutaneous lymph node syndrome", "ORPHA:2332": "KBG syndrome/KBG syndrome / ANKRD11-related disorder / Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome", "OMIM:148050": "KBG SYNDROME; KBGS", "ORPHA:2334": "Autosomal dominant keratitis/Keratitis, hereditary / Hereditary keratitis", "OMIM:148190": "KERATITIS, HEREDITARY", "ORPHA:2337": "Non-epidermolytic palmoplantar keratoderma/Palmoplantar keratoderma, Bothnian type / Diffuse palmoplantar keratoderma, Bothnian type / Diffuse palmoplantar keratoderma, Bothnia type / NEPPK, Bothnia type / NEPPK, Bothnian type", "OMIM:600231": "PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB", "ORPHA:2339": "Keratosis follicularis-dwarfism-cerebral atrophy syndrome/Keratosis follicularis, dwarfism, and cerebral atrophy", "OMIM:308830": "KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY", "ORPHA:234": "Dubin-Johnson syndrome/DUBIN-JOHNSON syndrome / Dubin-Sprinz disease / Hyperbilirubinemia type 2 / Sprinz-Nelson syndrome", "OMIM:237500": "DUBIN-JOHNSON SYNDROME; DJS", "OMIM:245010": "HAIM-MUNK SYNDROME; HMS", "OMIM:148800": "KLEEBLATTSCHAEDEL", "ORPHA:2345": "Isolated Klippel-Feil syndrome / Congenital cervical vertebral fusion / Congenital fused cervical segments / Klippel-Feil malformation / Klippel-Feil sequence", "ORPHA:2346": "Angioosteohypertrophic syndrome/Klippel-Trenaunay-Weber syndrome / Klippel-Trénaunay-Weber syndrome", "OMIM:149000": "KLIPPEL-TRENAUNAY-WEBER SYNDROME", "ORPHA:2347": "Lethal Kniest-like dysplasia", "ORPHA:2348": "Familial partial lipodystrophy, Dunnigan type/Lipodystrophy, familial partial, type 2 / Dunnigan syndrome / FPLD2 / Familial partial lipodystrophy type 2", "OMIM:151660": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2", "ORPHA:2349": "Muscular pseudohypertrophy-hypothyroidism syndrome / Hoffmann syndrome / Kocher-Debré-Semelaigne syndrome", "ORPHA:235": "Dubowitz syndrome/Dubowitz syndrome", "OMIM:223370": "DUBOWITZ SYNDROME", "OMIM:164220": "SCHILBACH-ROTT SYNDROME; SBRS", "ORPHA:2356": "Arachnoid cyst", "ORPHA:236": "Trisomy 9p / Trisomy 9p syndrome / Duplication 9p / Duplication of the short arm of chromosome 9 / Trisomy of the short arm of chromosome 9", "ORPHA:2363": "Lacrimoauriculodentodigital syndrome/Lacrimoauriculodentodigital syndrome-1 / LADD syndrome / LARD syndrome / Lacrimoauriculoradiodental syndrome / Levy-Hollister syndrome", "OMIM:149730": "LACRIMOAURICULODENTODIGITAL SYNDROME 1; LADD1", "ORPHA:2364": "Glycogen storage disease due to lactate dehydrogenase deficiency / GSD due to lactate dehydrogenase deficiency / Glycogenosis due to lactate dehydrogenase deficiency / LDH deficiency", "ORPHA:2368": "Gastroschisis/Gastroschisisabdominal wall defects, included / Laparoschisis", "OMIM:230750": "GASTROSCHISIS", "ORPHA:2370": "Larsen-like osseous dysplasia-short stature syndrome/Larsen-Like syndrome", "OMIM:608545": "LARSEN-LIKE SYNDROME", "ORPHA:1046": "Lethal hemolytic anemia-genital anomalies syndrome / Water-West syndrome", "OMIM:245650": "LARSEN-LIKE SYNDROME, LETHAL TYPE", "ORPHA:2373": "Congenital laryngomalacia/LARYNGOMALACIA", "OMIM:150280": "LARYNGOMALACIA", "ORPHA:2374": "Congenital laryngeal web / Isolated congenital laryngeal web", "ORPHA:2375": "Laryngeal abductor paralysis-intellectual disability syndrome / Plott syndrome", "ORPHA:2377": "Laurence-Moon syndrome/Laurence-Moon syndrome", "OMIM:245800": "LAURENCE-MOON SYNDROME; LNMS", "ORPHA:2378": "Laurin-Sandrow syndrome/Laurin-Sandrow syndrome / Mirror hands and feets-nasal defects syndrome", "OMIM:135750": "LAURIN-SANDROW SYNDROME; LSS", "ORPHA:2379": "Early-onset parkinsonism-intellectual disability syndrome/Waisman syndrome / Laxova-Opitz syndrome", "OMIM:311510": "WAISMAN SYNDROME; WSMN", "ORPHA:2380": "Legg-Calvé-Perthes disease/Legg-Calve-Perthes disease / Aseptic necrosis of the capital femoral epiphysis / Osteochondrosis of the capital femoral epiphysis", "OMIM:150600": "LEGG-CALVE-PERTHES DISEASE; LCPD", "ORPHA:2382": "Lennox-Gastaut syndrome", "ORPHA:238329": "Severe X-linked mitochondrial encephalomyopathy/Combined oxidative phosphorylation deficiency 6 / Mitochondrial encephalomyopathy due to COXPD6 / Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6", "OMIM:300816": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6", "ORPHA:238446": "15q11q13 microduplication syndrome / 15q11q13 duplication syndrome / Dup(15)(q11q13) / Trisomy 15q11q13", "ORPHA:238455": "Infantile dystonia-parkinsonism/Parkinsonism-Dystonia, infantile, 1 / DTDS / Dopamine transporter deficiency syndrome / IPD / PKDYS", "OMIM:613135": "PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET; PKDYS1", "ORPHA:238459": "SLC35A1-CDG/Congenital disorder of glycosylation, type IIf / CDG syndrome type IIf / CDG-IIf / CDG2F / CMP-sialic acid transporter deficiency / Carbohydrate deficient glycoprotein syndrome type IIf / Congenital disorder of glycosylation type 2f / Congenital disorder of glycosylation type IIf", "OMIM:603585": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F", "ORPHA:238468": "Hypohidrotic ectodermal dysplasia / Anhidrotic ectodermal dysplasia / HED", "OMIM:607748": "HYPERCHOLANEMIA, FAMILIAL 1; FHCA1", "OMIM:615122": "LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2", "ORPHA:1048": "Isolated anencephaly/exencephaly/Anencephaly", "OMIM:206500": "ANENCEPHALY 1; ANPH1", "OMIM:263400": "ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2", "ORPHA:238578": "Familial clubfoot due to 17q23.1q23.2 microduplication/Chromosome 17q23.1-q23.2 duplication syndrome / Hereditary clubfoot due to 17q23.1-q23.2 microduplication", "OMIM:613618": "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 / POT", "ORPHA:238624": "Idiopathic intracranial hypertension/Intracranial hypertension, idiopathic / Benign intracranial hypertension / IIH / Pseudotumor cerebri", "OMIM:243200": "INTRACRANIAL HYPERTENSION, IDIOPATHIC", "ORPHA:1051": "Ramos-Arroyo syndrome/Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation / Corneal anesthesia-deafness-intellectual disability syndrome / Corneal anesthesia-hearing loss-intellectual disability syndrome", "OMIM:122430": "RAMOS-ARROYO SYNDROME", "OMIM:275120": "THYROTROPIN-RELEASING HORMONE DEFICIENCY", "ORPHA:2387": "Leukonychia totalis", "ORPHA:238722": "Familial congenital mirror movements / Familial congenital controlateral synkinesia / Hereditary congenital controlateral synkinesia / Hereditary congenital mirror movements / Isolated congenital controlateral synkinesia / Isolated congenital mirror movements", "OMIM:613689": "MAMMARY-DIGITAL-NAIL SYNDROME; MDNS", "ORPHA:238750": "4q21 microdeletion syndrome/Chromosome 4q21 deletion syndrome / Del(4)(q21) / Monosomy 4q21", "OMIM:613509": "CHROMOSOME 4q21 DELETION SYNDROME", "OMIM:613530": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H; LGMD1H", "ORPHA:1052": "Mosaic variegated aneuploidy syndrome/Mosaic variegated aneuploidy syndrome 1 / Warburton-Anyane-Yeboa syndrome", "OMIM:257300": "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1", "ORPHA:238769": "1q44 microdeletion syndrome / Del(1)(q44) / Monosomy 1q44", "ORPHA:2388": "Choreoacanthocytosis/CHOREOACANTHOCYTOSIS / ChAc / Chorea-acanthocytosis / Levine-Critchley syndrome", "OMIM:200150": "CHOREOACANTHOCYTOSIS; CHAC", "ORPHA:239": "Dyggve-Melchior-Clausen disease/Dyggve-Melchior-Clausen disease", "OMIM:223800": "DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC", "OMIM:122580": "COSTOCORACOID LIGAMENT, CONGENITALLY SHORT", "ORPHA:2394": "Pyruvate dehydrogenase E3 deficiency/Dihydrolipoamide dehydrogenase deficiency / DLD deficiency / E3-deficient maple syrup urine disease", "OMIM:246900": "DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD", "ORPHA:2396": "Encephalocraniocutaneous lipomatosis/Encephalocraniocutaneous lipomatosis / Haberland syndrome", "OMIM:613001": "ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL", "ORPHA:2398": "Multiple symmetric lipomatosis/Lipomatosis, familial benign cervical / Cephalothoracic lipodystrophy / Familial benign cervical lipomatosis / Launois-Bensaude lipomatosis / Madelung disease", "OMIM:151800": "LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY; MSL", "ORPHA:2399": "Nasopalpebral lipoma-coloboma syndrome/Nasopalpebral lipoma-coloboma syndrome", "OMIM:167730": "NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME; NPLCS", "ORPHA:1053": "Vein of Galen aneurysmal malformation / Vein of Galen arteriovenous malformations", "OMIM:606812": "FUMARASE DEFICIENCY; FMRD", "ORPHA:240": "Léri-Weill dyschondrosteosis/Leri-Weill dyschondrosteosis / Léri-Weill syndrome", "OMIM:127300": "LERI-WEILL DYSCHONDROSTEOSIS; LWD", "ORPHA:2400": "Peripheral motor neuropathy-dysautonomia syndrome / Lisker-Garcia-Ramos syndrome", "ORPHA:240071": "Classic progressive supranuclear palsy syndrome/Supranuclear palsy, progressive, 1 / Classic PSP syndrome / Richardson syndrome / Steele-Richardson-Olszewski disease", "OMIM:601104": "SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1", "ORPHA:240085": "Progressive supranuclear palsy-parkinsonism syndrome/Supranuclear palsy, progressive atypical / Progressive supranuclear palsy-predominant parkinsonism syndrome / PSP-p / PSP-parkinsonism", "OMIM:260540": "PARKINSON-DEMENTIA SYNDROME", "ORPHA:240094": "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome / PSP-PAGF / PSP-pure akinesia with gait freezing", "ORPHA:240103": "Progressive supranuclear palsy-corticobasal syndrome / PSP-CBS / PSP-corticobasal syndrome", "ORPHA:240112": "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome / PSP-AOS / PSP-PNFA / Progressive supranuclear palsy-apraxia of speech syndrome", "ORPHA:1054": "Aneurysm of sinus of Valsalva / SOVA / SVA / Sinus of Valsalva aneurysm", "OMIM:128980": "EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES", "ORPHA:2406": "Locked-in syndrome / LIS / Pseudocoma", "OMIM:245660": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS; JEB2C", "OMIM:613078": "NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD", "ORPHA:2408": "Lowe-Kohn-Cohen syndrome / Deafness-nephritis-ano-rectal malformation syndrome / Hearing loss-nephritis-ano-rectal malformation syndrome", "ORPHA:2409": "Lowry-MacLean syndrome/Lowry-Maclean syndrome", "OMIM:600252": "LOWRY-MACLEAN SYNDROME", "ORPHA:241": "Dyschromatosis universalis hereditaria/Dyschromatosis universalis hereditaria", "OMIM:127500": "DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1", "ORPHA:2410": "Hypergonadotropic hypogonadism-cataract syndrome/Hypogonadism-Cataract syndrome / Lubinsky syndrome", "OMIM:240950": "HYPOGONADISM-CATARACT SYNDROME", "ORPHA:2412": "Dislocation of the hip-dysmorphism syndrome / Collins-Pope syndrome", "ORPHA:2414": "Congenital pulmonary lymphangiectasia/Lymphangiectasia, pulmonary, congenital / Pulmonary lymphangiomatosis", "OMIM:265300": "LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL", "ORPHA:1059": "Blue rubber bleb nevus/Blue rubber bleb nevus / BRBN / Bean syndrome", "OMIM:112200": "BLUE RUBBER BLEB NEVUS", "ORPHA:242": "46,XY complete gonadal dysgenesis/46XY sex reversal 1 / 46,XY CGD / 46,XY pure gonadal dysgenesis / Swyer syndrome", "OMIM:400044": "46,XY SEX REVERSAL 1; SRXY1", "ORPHA:2429": "Macrocephaly-spastic paraplegia-dysmorphism syndrome / Fryns macrocephaly", "ORPHA:243": "46,XX gonadal dysgenesis/Ovarian dysgenesis 1 / 46,XX complete gonadal dysgenesis / 46,XX ovarian dysgenesis / 46,XX pure gonadal dysgenesis / Hypergonadotropic ovarian dysgenesis / XX female gonadal dysgenesis / XX-GD", "OMIM:233300": "OVARIAN DYSGENESIS 1; ODG1", "ORPHA:2430": "Congenital macroglossia/MACROGLOSSIA", "OMIM:153630": "MACROGLOSSIA", "ORPHA:2432": "Macrosomia-microphthalmia-cleft palate syndrome / Teebi-Al Saleh-Hassoon syndrome", "ORPHA:243343": "Dimethylglycine dehydrogenase deficiency/Dimethylglycine dehydrogenase deficiency / DMG dehydrogenase deficiency / DMGDH deficiency", "OMIM:605850": "DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD", "ORPHA:1062": "Hereditary neurocutaneous malformation/Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included", "OMIM:106070": "ANGIOMA, HEREDITARY NEUROCUTANEOUS", "ORPHA:2435": "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome / Westerhof-Beemer-Cormane syndrome", "ORPHA:2437": "Czeizel-Losonci syndrome / Split hand with obstructive uropathy, spina bifida and diaphragmatic defects / Split hand-urinary anomalies-spina bifida syndrome", "ORPHA:2438": "Hand-foot-genital syndrome/Hand-foot-uterus syndrome / HFGS", "OMIM:140000": "HAND-FOOT-GENITAL SYNDROME; HFG", "OMIM:183700": "SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS", "ORPHA:244": "Primary ciliary dyskinesia/Ciliary dyskinesia, primary, 1", "OMIM:244400": "CILIARY DYSKINESIA, PRIMARY, 1; CILD1", "ORPHA:2440": "Isolated split hand-split foot malformation/Split-Hand/foot malformation 1 / Ectrodactyly / SHFM / Split hand foot malformation", "OMIM:183600": "SPLIT-HAND/FOOT MALFORMATION 1; SHFM1", "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 / Duncan disease / Purtilo syndrome", "ORPHA:244242": "HELLP syndrome / Hemolysis, elevated liver enzymes, low platelets in pregnancy / Hemolysis-elevated liver enzymes-low platelets syndrome", "ORPHA:1063": "Tufted angioma/Angioma, tufted / Nakagawa angioblastoma", "OMIM:607859": "ANGIOMA, TUFTED", "ORPHA:244310": "RFT1-CDG/Congenital disorder of glycosylation, type In / CDG syndrome type In / CDG-In / CDG1N / Carbohydrate deficient glycoprotein syndrome type In / Congenital disorder of glycosylation type 1n / Congenital disorder of glycosylation type In / Man5GlcNAc2-PP-Dol flippase deficiency", "OMIM:612015": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N", "ORPHA:2444": "Congenital pulmonary airway malformation / CCAM / CPAM / Congenital cystic adenomatoid malformation of the lung / Congenital cystic adenomatous malformation of the lung / Congenital cystic disease of the lung", "OMIM:217095": "CONOTRUNCAL HEART MALFORMATIONS; CTHM", "ORPHA:245": "Nager syndrome/Acrofacial dysostosis 1, Nager type / Mandibulofacial dysostosis with preaxial limb anomalies / NAFD / Nager acrofacial dysostosis / Preaxial acrodysostosis", "OMIM:154400": "ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1", "OMIM:600195": "VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM", "ORPHA:2456": "Familial supernumerary nipples/Nipples, supernumerary / Isolated polythelia", "OMIM:163700": "NIPPLES, SUPERNUMERARY", "ORPHA:2457": "Mandibuloacral dysplasia / MAD", "OMIM:104510": "AMELOGENESIS IMPERFECTA, TYPE IV; AI4", "ORPHA:1064": "Aniridia-renal agenesis-psychomotor retardation syndrome/Aniridia, partial, with unilateral renal agenesis and psychomotorretardation / Sommer-Rathbun-Battles syndrome", "OMIM:206750": "ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION", "ORPHA:246": "Postaxial acrofacial dysostosis/Postaxial acrofacial dysostosis / Acrofacial dysostosis, Genee-Wiedemann type / Mandibulofacial dysostosis with postaxial limb anomalies / Miller syndrome / POADS / Postaxial acrodysostosis", "OMIM:263750": "MILLER SYNDROME", "OMIM:600920": "VAN DEN ENDE-GUPTA SYNDROME; VDEGS", "ORPHA:2461": "Marden-Walker syndrome/Marden-Walker syndrome", "OMIM:248700": "MARDEN-WALKER SYNDROME; MWKS", "ORPHA:2462": "Shprintzen-Goldberg syndrome/Shprintzen-Goldberg craniosynostosis syndrome / Marfanoid craniosynostosis syndrome", "OMIM:182212": "SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS", "ORPHA:2463": "Marfanoid habitus-autosomal recessive intellectual disability syndrome / Fragoso-Cantú syndrome", "ORPHA:2466": "MASA syndrome/MASA syndrome / Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome", "OMIM:303350": "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": "GILLESPIE SYNDROME; GLSP", "ORPHA:2470": "Matthew-Wood syndrome/Microphthalmia, syndromic 9 / Anophthalmia-pulmonary hypoplasia syndrome / PDAC syndrome / Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome / Spear syndrome", "OMIM:601186": "MICROPHTHALMIA, SYNDROMIC 9; MCOPS9", "ORPHA:2471": "McDonough syndrome", "ORPHA:247234": "Sporadic adult-onset ataxia of unknown etiology / Idiopathic late-onset cerebellar ataxia / SAOA", "ORPHA:247257": "Inhalational anthrax / Inhalation anthrax disease / Pulmonary anthrax / Respiratory anthrax / Respiratory anthrax disease", "ORPHA:1067": "Aniridia-ptosis-intellectual disability-familial obesity syndrome", "ORPHA:247262": "Hyperphosphatasia-intellectual disability syndrome / Mabry syndrome", "ORPHA:2473": "McKusick-Kaufman syndrome/Mckusick-Kaufman syndrome / Hydrometrocolpos-postaxial polydactyly syndrome / Kaufman-Mckusick syndrome", "OMIM:236700": "MCKUSICK-KAUFMAN SYNDROME; MKKS", "ORPHA:2475": "White forelock with malformations/White forelock with malformations", "OMIM:277740": "WHITE FORELOCK WITH MALFORMATIONS", "OMIM:300455": "RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS; RPSRDF", "ORPHA:247525": "Citrullinemia type I/Citrullinemia, classic / ASS deficiency / Argininosuccinate synthase deficiency / Argininosuccinate synthetase deficiency / Argininosuccinic acid synthase deficiency / Argininosuccinic acid synthetase deficiency / CTLN1 / Citrullinemia type 1 / Classic citrullinemia", "OMIM:215700": "CITRULLINEMIA, CLASSIC", "ORPHA:1068": "Aniridia-intellectual disability syndrome / Walker-Dyson syndrome", "ORPHA:247585": "Citrullinemia type II/Citrullinemia, type II, adult-onset / Adult-onset citrin deficiency / Adult-onset citrullinemia type 2 / Adult-onset citrullinemia type II / CTLN2 / Citrullinemia type 2", "OMIM:603471": "CITRIN DEFICIENCY, ADOLESCENT OR ADULT ONSET; CDAA", "ORPHA:247598": "Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset / NICCD / Neonatal intrahepatic cholestasis caused by citrin deficiency", "OMIM:605814": "CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET; CDNI", "ORPHA:2476": "Dysraphism-cleft lip/palate-limb reduction defects syndrome / Medeira-Dennis-Donnai syndrome", "ORPHA:247604": "Juvenile primary lateral sclerosis/Primary lateral sclerosis, juvenile / JPLS / Juvenile PLS", "OMIM:606353": "PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ", "OMIM:241500": "HYPOPHOSPHATASIA, INFANTILE; HPPI", "OMIM:241510": "HYPOPHOSPHATASIA, CHILDHOOD; HPPC", "OMIM:146300": "HYPOPHOSPHATASIA, ADULT; HPPA", "ORPHA:1069": "Aniridia-absent patella syndrome/Aniridia and absent patella", "OMIM:106220": "ANIRIDIA AND ABSENT PATELLA", "ORPHA:247691": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations/Vasculopathy, retinal, with cerebral leukodystrophy / RVCL / RVCL-S / Retinal vasculopathy and cerebral leukoencephalopathy", "OMIM:192315": "VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS; RVCLS", "OMIM:171400": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A", "ORPHA:2477": "Megalencephaly / Macroencephaly", "OMIM:162300": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B", "ORPHA:247768": "Müllerian aplasia and hyperandrogenism/Mullerian aplasia and hyperandrogenism / Müllerian duct failure and hyperandrogenism / WNT4 deficiency", "OMIM:158330": "MULLERIAN APLASIA AND HYPERANDROGENISM", "ORPHA:107": "BOR syndrome/Branchiootorenal syndrome 1 / Branchiootorenal spectrum disorder / Melnick-Fraser syndrome", "OMIM:113650": "BRANCHIOOTORENAL SYNDROME 1; BOR1", "OMIM:277000": "MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME; MRKH", "OMIM:615517": "HEMOCHROMATOSIS, TYPE 5; HFE5", "OMIM:612018": "CATARACT 47; CTRCT47", "ORPHA:247798": "MUTYH-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis, 2 / MUTYH-related AFAP / MUTYH-related attenuated FAP / MUTYH-related attenuated familial polyposis coli", "OMIM:608456": "FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2", "OMIM:604004": "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1", "ORPHA:247806": "APC-related attenuated familial adenomatous polyposis / APC-related AFAP / APC-related attenuated FAP / APC-related attenuated familial polyposis coli", "ORPHA:247815": "Autosomal recessive ataxia due to PEX10 deficiency / Mild peroxisomal disorder due to PEX10 deficiency", "OMIM:613573": "ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1", "OMIM:613576": "ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2", "OMIM:613587": "OCCULT MACULAR DYSTROPHY; OCMD", "OMIM:611762": "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2", "ORPHA:2479": "Megalocornea-intellectual disability syndrome/Megalocornea-Mental retardation syndrome / MMR syndrome / Neuhäuser syndrome", "OMIM:249310": "NEUHAUSER SYNDROME", "ORPHA:248": "Autosomal recessive hypohidrotic ectodermal dysplasia / AR-HED / Autosomal recessive anhidrotic ectodermal dysplasia", "ORPHA:2481": "Neurocutaneous melanocytosis/Neurocutaneous melanosis, somatic / NCM", "OMIM:249400": "MELANOSIS, NEUROCUTANEOUS; NCMS", "ORPHA:248111": "Juvenile Huntington disease / JHD / Juvenile Huntington chorea", "ORPHA:1071": "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome/Hay-Wells syndrome / AEC syndrome", "OMIM:106260": "ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; AEC", "ORPHA:2483": "Melkersson-Rosenthal syndrome/Melkersson-Rosenthal syndrome", "OMIM:155900": "MELKERSSON-ROSENTHAL SYNDROME", "ORPHA:1072": "Ankyloblepharon filiforme adnatum-cleft palate syndrome/Ankyloblepharon filiforme adnatum and cleft palate", "OMIM:106250": "ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE; AFA", "ORPHA:2484": "Melnick-Needles syndrome/Melnick-Needles syndrome / Melnick-Needles osteodysplasty", "OMIM:309350": "MELNICK-NEEDLES SYNDROME; MNS", "ORPHA:2485": "Melorheostosis/Melorheostosis, isolated", "OMIM:155950": "MELORHEOSTOSIS, ISOLATED; MEL", "ORPHA:2487": "Lower limb malformation-hypospadias syndrome / Fried-Goldberg-Mundel syndrome", "ORPHA:1074": "Ankyloblepharon filiforme adnatum-imperforate anus syndrome / Aughton-Hufnagle syndrome", "ORPHA:2489": "Upper limb defect-eye and ear abnormalities syndrome/Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness", "OMIM:274205": "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": "HYPOMELIA WITH MULLERIAN DUCT ANOMALIES", "ORPHA:2492": "FATCO syndrome / Fibular aplasia-tibial campomelia-oligosyndactyly syndrome / Hecht-Scott syndrome", "ORPHA:2494": "Ménétrier disease/Gastritis, familial giant hypertrophic / Giant hypertrophic gastritis / Hypoproteinemic hypertrophic gastropathy", "OMIM:137280": "GASTRITIS, FAMILIAL GIANT HYPERTROPHIC", "ORPHA:2495": "Meningioma", "ORPHA:2496": "Mesomelia-synostoses syndrome/Mesomelia-Synostoses syndrome / 8q13 microdeletion syndrome / Del(8)q(13) / Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type / Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type / Monosomy 8q13 / Verloes-David syndrome", "OMIM:600383": "MESOMELIA-SYNOSTOSES SYNDROME", "ORPHA:2497": "Upper limb mesomelic dysplasia/Ulnar hypoplasia / Upper limb mesomelic dysplasia, type Fryns / Fryns-Hofkens-Fabry syndrome / Ulna hypoplasia", "OMIM:191440": "ULNAR HYPOPLASIA", "OMIM:309630": "METACARPAL 4-5 FUSION; MF4", "ORPHA:2499": "Metachondromatosis/METACHONDROMATOSIS", "OMIM:156250": "METACHONDROMATOSIS; METCDS", "ORPHA:1077": "Dental ankylosis / Ankylosis of teeth", "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 / GA1 / GCDHD / Glutaric acidemia type 1 / Glutaric aciduria type 1 / Glutaryl-coenzyme A dehydrogenase deficiency", "OMIM:231670": "GLUTARIC ACIDEMIA I; GA1", "ORPHA:2500": "Acrogeria / Acrogeria, Gottron type / Acrometageria / Gottron syndrome", "ORPHA:2501": "Metaphyseal chondrodysplasia, Spahr type/Metaphyseal chondrodysplasia, Spahr type", "OMIM:250400": "METAPHYSEAL DYSPLASIA, SPAHR TYPE; MDST", "ORPHA:2502": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome/Metaphyseal dysostosis, mental retardation, and conductive deafness / Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome", "OMIM:250420": "METAPHYSEAL DYSOSTOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND CONDUCTIVE DEAFNESS", "OMIM:156510": "METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB", "ORPHA:2505": "Multiple benign circumferential skin creases on limbs/Skin creases, congenital symmetric circumferential, 1 / CCSF / Circumferential skin creases, Kunze type / Congenital circumferential skin folds / Kunze-Riehm syndrome", "OMIM:156610": "SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1", "ORPHA:2508": "Corpus callosum agenesis-abnormal genitalia syndrome/Corpus callosum, agenesis of, with abnormal genitalia / ACC-abnormal genitalia syndrome / Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome / Proud syndrome / Proud-Levine-Carpenter syndrome", "OMIM:300004": "CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA", "ORPHA:1078": "Thumb stiffness-brachydactyly-intellectual disability syndrome/Thumbs, stiff, with brachydactyly type A1 and developmental delay / Piussan-Lenaerts-Mathieu syndrome", "OMIM:188201": "THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY", "ORPHA:250923": "Isolated aniridia/Aniridia", "OMIM:106210": "ANIRIDIA 1; AN1", "ORPHA:250972": "Polymicrogyria with optic nerve hypoplasia", "ORPHA:250977": "AICA-ribosiduria/AICA-ribosiduria due to ATIC deficiency / 5-amino-4-imidazole carboxamide ribosiduria / AICAR transformylase/IMP cyclohydrolase deficiency", "OMIM:608688": "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 / Del(1)(q21) / Monosomy 1q21.1", "OMIM:612474": "CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB", "ORPHA:108": "Babesiosis", "ORPHA:250994": "1q21.1 microduplication syndrome/Chromosome 1q21.1 duplication syndrome / Dup(1)(q21.1) / Trisomy 1q21.1", "OMIM:612475": "CHROMOSOME 1q21.1 DUPLICATION SYNDROME", "ORPHA:250999": "1q41q42 microdeletion syndrome/Chromosome 1q41-q42 deletion syndrome / Del(1)(q41q42) / Monosomy 1q41q42", "OMIM:612530": "CHROMOSOME 1q41-q42 DELETION SYNDROME", "ORPHA:2510": "Micro syndrome/Warburg micro syndrome 1 / WARBM", "OMIM:600118": "WARBURG MICRO SYNDROME 1; WARBM1", "ORPHA:251004": "Paternal uniparental disomy of chromosome 1 / Paternal uniparental disomy of chromosome 1 syndrome / UPD(1)pat", "ORPHA:251009": "Maternal uniparental disomy of chromosome 1 / Maternal uniparental disomy of chromosome 1 syndrome / UPD(1)mat", "ORPHA:251014": "2q31.1 microdeletion syndrome / Del(2)(q31.1) / Monosomy 2q31.1", "ORPHA:251019": "2q32q33 microdeletion syndrome/Glass syndrome / Del(2)(q32) / Del(2)(q32q33) / Monosomy 2q32 / Monosomy 2q32q33", "OMIM:612313": "GLASS SYNDROME; GLASS", "ORPHA:251038": "3q29 microduplication syndrome/Chromosome 3q29 duplication syndrome / Trisomy 3q29", "OMIM:611936": "CHROMOSOME 3q29 DUPLICATION SYNDROME", "ORPHA:251046": "6p22 microdeletion syndrome / Del(6)(p22) / Monosomy 6p22", "ORPHA:251056": "6q25 microdeletion syndrome/Chromosome 6q25-q25 deletion syndrome / 6q25.2q25.3 microdeletion syndrome / Del(6)(q25) / Monosomy 6q25", "OMIM:612863": "CHROMOSOME 6q24-q25 DELETION SYNDROME", "ORPHA:251066": "8p11.2 deletion syndrome / Del(8)(p11.2) / Monosomy 8p11.2", "ORPHA:251071": "8p23.1 microdeletion syndrome / Del(8)(p23.1) / Monosomy 8p23.1", "ORPHA:251076": "8p23.1 duplication syndrome / Dup(8)(p23.1p23.1) / Trisomy 8p23.1", "ORPHA:2511": "Microbrachycephaly-ptosis-cleft lip syndrome/Richieri-Costa/guion-Almeida syndrome / Richieri Costa-Guion Almeida-Ramos syndrome", "OMIM:268850": "RICHIERI-COSTA/GUION-ALMEIDA SYNDROME", "ORPHA:2512": "Autosomal recessive primary microcephaly/Microcephaly, primary autosomal recessive, 1 / MCPH / Microcephalia vera / Microcephaly vera / True microcephaly", "OMIM:251200": "MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1", "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 AND ADVANCED BONE AGE WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD", "ORPHA:251274": "Familial hyperaldosteronism type III/Hyperaldosteronism, familial, type III / FH-III / FH3 / Familial hyperaldosteronism type 3", "OMIM:613677": "HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3", "OMIM:611040": "MICROPHTHALMIA, ISOLATED 5; MCOP5", "ORPHA:251282": "Autosomal dominant spastic ataxia type 1/Spastic ataxia 1, autosomal dominant / SPAX1", "OMIM:108600": "SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1", "OMIM:153870": "RETINITIS PIGMENTOSA 91; RP91", "OMIM:168550": "PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD", "OMIM:172870": "PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA", "ORPHA:2513": "Microcephaly-albinism-digital anomalies syndrome/Microcephaly - albinism - digital anomalies / Castro Gago-Pombo-Novo syndrome", "OMIM:203340": "ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME", "ORPHA:251347": "Ataxia-telangiectasia-like disorder/Ataxia-telangiectasia-like disorder 1 / ATLD", "OMIM:604391": "ATAXIA-TELANGIECTASIA-LIKE DISORDER 1; ATLD1", "ORPHA:251383": "CK syndrome/CK syndrome / X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome", "OMIM:300831": "CK SYNDROME; CKS", "ORPHA:2514": "Autosomal dominant primary microcephaly/Microcephaly, autosomal dominant", "OMIM:156580": "MICROCEPHALY, AUTOSOMAL DOMINANT", "ORPHA:2515": "Microcephaly-cardiomyopathy syndrome/MICROCEPHALY-CARDIOMYOPATHY / Winship-Viljoen-Leary syndrome", "OMIM:251220": "MICROCEPHALY-CARDIOMYOPATHY", "ORPHA:251510": "46,XY partial gonadal dysgenesis / 46,XY PGD / 46,XY partial testicular dysgenesis", "ORPHA:2516": "Microcephaly-cardiac defect-lung malsegmentation syndrome/Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs / Ellis-Yale-Winter syndrome", "OMIM:601355": "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 / Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome", "OMIM:251270": "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1", "OMIM:606483": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2GG; CMT2GG", "ORPHA:2519": "Microcephaly-seizures-intellectual disability-heart disease syndrome", "ORPHA:251909": "Pineoblastoma", "ORPHA:251912": "Pineocytoma", "ORPHA:251915": "Papillary tumor of the pineal region / PTPR", "ORPHA:251937": "Gangliocytoma", "ORPHA:251992": "Ganglioneuroma", "ORPHA:252054": "Hemangioblastoma", "ORPHA:2521": "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome", "ORPHA:252164": "Benign schwannoma / Neurilemmoma / Neurilemoma / Peripheral fibroblastoma", "ORPHA:252183": "Neurofibroma", "ORPHA:2522": "Microcephaly-cervical spine fusion anomalies syndrome/Microcephaly with cervical spine fusion anomalies", "OMIM:251250": "MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES", "OMIM:276300": "MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1", "OMIM:155755": "MELANOMA-ASTROCYTOMA SYNDROME", "ORPHA:2523": "Microcephaly-brain defect-spasticity-hypernatremia syndrome / Franek-Bocker-Kahlen syndrome", "ORPHA:2526": "Microcephaly-lymphedema-chorioretinopathy syndrome/Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation / MLCRD", "OMIM:152950": "MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT; MCLMR", "ORPHA:2528": "Microcephaly-microcornea syndrome, Seemanova type / Seemanova-Lesny syndrome", "ORPHA:2533": "Microcephaly-deafness-intellectual disability syndrome / Kawashima-Tsuji syndrome / Microcephaly-hearing loss-intellectual disability syndrome", "ORPHA:2536": "Microcornea-glaucoma-absent frontal sinuses syndrome/Microcornea, glaucoma, and absent frontal sinuses", "OMIM:156700": "MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES", "ORPHA:2538": "Microgastria-limb reduction defect syndrome", "OMIM:251600": "MICROPHTHALMIA, ISOLATED 1; MCOP1", "OMIM:613641": "CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB", "ORPHA:254343": "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome/Spastic ataxia 4, autosomal recessive / Autosomal recessive spastic ataxia type 4 / SPAX4", "OMIM:613672": "SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4", "ORPHA:254346": "19p13.12 microdeletion syndrome / Del(19)(p13.12) / Monosomy 19p13.12", "ORPHA:254351": "Distal 7q11.23 microdeletion syndrome / Distal del(7)(q11.23) / Distal monosomy 7q11.23", "ORPHA:254361": "Plectin-related limb-girdle muscular dystrophy R17/Muscular dystrophy, limb-girdle, type 2Q / Autosomal recessive limb-girdle muscular dystrophy type 2Q / LGMD type 2Q / LGMD2Q / Limb-girdle muscular dystrophy type 2Q / Plectin-related LGMD R17", "OMIM:613723": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; LGMDR17", "ORPHA:254478": "Lichen planus pemphigoides / LP pemphigoides", "ORPHA:254504": "Inhalational botulism / Inhalation botulism", "ORPHA:254509": "Iatrogenic botulism / Inadvertent botulism", "ORPHA:254516": "Temple syndrome/Temple syndrome", "OMIM:616222": "TEMPLE SYNDROME", "ORPHA:254519": "Kagami-Ogata syndrome/Kagami-Ogata syndrome / KOS", "OMIM:608149": "KAGAMI-OGATA SYNDROME", "ORPHA:2547": "Microphthalmia-microtia-fetal akinesia syndrome / Thomas-Jewett-Raines syndrome", "ORPHA:254704": "Genetic hyperferritinemia without iron overload / Benign hyperferritinemia", "OMIM:606482": "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB", "ORPHA:254854": "Pure mitochondrial myopathy", "ORPHA:254857": "Lethal infantile mitochondrial myopathy/Myopathy, mitochondrial, lethal infantile / LIMD / LIMM / Lethal infantile mitochondrial disease", "OMIM:551000": "MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM", "ORPHA:254864": "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency/Mitochondrial myopathy, infantile, transient / Benign COX deficiency / Infantile reversible cytochrome C oxidase deficiency myopathy / Mitochondrial myopathy with reversible COX deficiency / Mitochondrial myopathy with reversible complex IV deficiency / Reversible infantile cytochrome C oxidase deficiency / Reversible infantile respiratory chain deficiency", "OMIM:500009": "MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT", "ORPHA:254875": "Mitochondrial DNA depletion syndrome, myopathic form/Mitochondrial DNA depletion syndrome 2 (myopathic type) / mtDNA depletion syndrome, myopathic form", "OMIM:609560": "MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2", "ORPHA:254886": "Autosomal recessive progressive external ophthalmoplegia / arPEO", "ORPHA:254892": "Autosomal dominant progressive external ophthalmoplegia/Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 / adPEO", "OMIM:157640": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1", "OMIM:614651": "COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2", "ORPHA:2549": "Oculoauriculovertebral spectrum with radial defects/Hemifacial microsomia with radial defects / Hemifacial microsomia-radial defects syndrome / Moeschler-Clarren syndrome", "OMIM:141400": "HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS", "OMIM:220110": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1", "ORPHA:109": "Bannayan-Riley-Ruvalcaba syndrome / BRRS / Myhre-Riley-Smith syndrome", "OMIM:610498": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2", "OMIM:610678": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4", "ORPHA:254930": "Combined oxidative phosphorylation defect type 7/Combined oxidative phosphorylation deficiency 7 / COXPD7 / Severe C12ORF65-related COXPD / Severe C12ORF65-related combined oxidative phosphorylation defect", "OMIM:613559": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7", "ORPHA:255": "Dopa-responsive dystonia / HPD with diurnal fluctuation / Hereditary progressive dystonia with diurnal fluctuation", "OMIM:616860": "ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY; SIDBA3", "ORPHA:255138": "Pyruvate dehydrogenase E1-beta deficiency/Pyruvate dehydrogenase E1-beta deficiency / PDHBD / Pyruvate dehydrogenase complex E1 component subunit beta deficiency", "OMIM:614111": "PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD", "ORPHA:255182": "Pyruvate dehydrogenase E3-binding protein deficiency/Pyruvate dehydrogenase e3-binding protein deficiency / 2-oxoglutarate complex deficiency / Branched chain alpha-ketoacid dehydrogenase complex deficiency / Diaphorase deficiency / Dihydrolipoyl dehydrogenase deficiency / Glycine cleavage system L protein deficiency / Lipoamide dehydrogenase deficiency / Pyruvate dehydrogenase complex component E3 deficiency / Pyruvate dehydrogenase protein X component deficiency", "OMIM:245349": "PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD", "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 / MILS / Maternally-inherited Leigh disease / Maternally-inherited infantile subacute necrotizing encephalopathy / mtDNA-associated Leigh syndrome", "OMIM:256810": "MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6", "OMIM:612075": "MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A", "ORPHA:255241": "Leigh syndrome with leukodystrophy / Infantile subacute necrotizing encephalopathy with leukodystrophy / Leigh disease with leukodystrophy", "ORPHA:255249": "Leigh syndrome with nephrotic syndrome / Infantile subacute necrotizing encephalopathy with nephrotic syndrome / Leigh disease with nephrotic syndrome", "ORPHA:2554": "Ear-patella-short stature syndrome / Meier-Gorlin syndrome", "ORPHA:2556": "Microphthalmia with linear skin defects syndrome/Linear skin defects with multiple congenital anomalies 1 / MCOPS7 / MIDAS syndrome / MLS syndrome / Microphthalmia-dermal aplasia-sclerocornea syndrome / Syndromic microphthalmia type 7", "OMIM:309801": "LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1", "ORPHA:2557": "Mietens syndrome/Mental retardation syndrome, Mietens-Weber type / Intellectual disability, Mietens-Weber type", "OMIM:249600": "MIETENS-WEBER SYNDROME", "ORPHA:256": "Early-onset generalized limb-onset dystonia / Dystonia musculorum deformans / EOTD / Early-onset generalized torsion dystonia / Early-onset isolated dystonia / Early-onset primary dystonia / Early-onset torsion dystonia / Idiopathic torsion dystonia / Oppenheim dystonia", "ORPHA:2560": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome", "OMIM:200970": "ACKERMAN SYNDROME", "ORPHA:2563": "MOMO syndrome/MOMO syndrome / Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome / Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome", "OMIM:157980": "MOMO SYNDROME", "ORPHA:2564": "Tetramelic monodactyly/Tetramelic monodactyly / Sommer-Hines syndrome", "OMIM:187510": "TETRAMELIC MONODACTYLY", "OMIM:226990": "IMMUNODEFICIENCY 32B; IMD32B", "ORPHA:257": "Epidermolysis bullosa simplex with muscular dystrophy/Epidermolysis bullosa simplex with muscular dystrophy / EBS with muscular dystrophy / EBS-MD / Limb-girdle muscular dystrophy with epidermolysis bullosa simplex", "OMIM:226670": "EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B", "ORPHA:2570": "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome/Holoprosencephaly with fetal akinesia/hypokinesia sequence / Morse-Rawnsley-Sargent syndrome", "OMIM:306990": "MICROHYDRANENCEPHALY, X-LINKED; MHACX", "ORPHA:2571": "X-linked immunoneurologic disorder/Immunoneurologic disorder, X-linked / Woods-Black-Norbury syndrome", "OMIM:300076": "IMMUNONEUROLOGIC DISORDER, X-LINKED", "ORPHA:2572": "Spastic ataxia-corneal dystrophy syndrome/Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia / Bedouin spastic ataxia syndrome / Mousa-Al Din-Al Nassar syndrome / Spastic ataxia-ocular anomalies syndrome", "OMIM:271320": "SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA", "ORPHA:2573": "Moyamoya disease/Moyamoya disease 1 / Idiopathic Moyamoya disease", "OMIM:252350": "MOYAMOYA DISEASE 1; MYMY1", "ORPHA:2574": "Moynahan syndrome / Alopecia-epilepsy-intellectual disability syndrome, Moynahan type", "ORPHA:2575": "Cystic fibrosis-gastritis-megaloblastic anemia syndrome / Lubani-Al Saleh-Teebi syndrome", "ORPHA:2576": "Mulibrey nanism/Mulibrey nanism / MUL / Mulibrey growth disorder / Muscle-liver-brain-eye nanism", "OMIM:253250": "MULIBREY NANISM; MUL", "ORPHA:2578": "Mayer-Rokitansky-Küster-Hauser syndrome type 2/Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies / Atypical MRKH syndrome / MRKH syndrome type 2 / MURCS association / Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome", "OMIM:601076": "MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC SOMITE ANOMALIES; MURCS", "ORPHA:2579": "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome/Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus / Furukawa-Takagi-Nakao syndrome", "OMIM:158500": "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 / CMD1A / Congenital muscular dystrophy due to laminin alpha2 deficiency / Congenital muscular dystrophy type 1A / MDC1A / Merosin-negative congenital muscular dystrophy", "OMIM:607855": "MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A", "ORPHA:2582": "Myalgia-eosinophilia syndrome associated with tryptophan", "ORPHA:2583": "Mycetoma / Madura foot", "ORPHA:2584": "Classic mycosis fungoides/Mycosis fungoides / Mycosis fungoides, Alibert-Bazin type", "OMIM:254400": "MYCOSIS FUNGOIDES", "ORPHA:1094": "Anonychia-microcephaly syndrome / Teebi-Kaurah syndrome", "ORPHA:2585": "Ataxia-pancytopenia syndrome/Ataxia-Pancytopenia syndrome / Myelocerebellar disorder", "OMIM:159550": "ATAXIA-PANCYTOPENIA SYNDROME; ATXPC", "OMIM:254600": "MYELOPEROXIDASE DEFICIENCY; MPOD", "ORPHA:2588": "Myhre syndrome/Myhre syndrome / Facial dysmorphism-intellectual disability-short stature-deafness syndrome / Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome / Myhre-LAPS syndrome / Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome", "OMIM:139210": "MYHRE SYNDROME; MYHRS", "ORPHA:2589": "Myoclonus-cerebellar ataxia-deafness syndrome/Myoclonus, cerebellar ataxia, and deafness / Myoclonus-cerebellar ataxia-hearing loss syndrome", "OMIM:159800": "MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS", "ORPHA:2590": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome/Spinal muscular atrophy with progressive myoclonic epilepsy / Hereditary myoclonus-progressive distal muscular atrophy syndrome / Jankovic-Rivera syndrome / SMA-PME", "OMIM:159950": "SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME", "ORPHA:2591": "Infantile myofibromatosis/Myofibromatosis, infantile, 1", "OMIM:228550": "MYOFIBROMATOSIS, INFANTILE, 1; IMF1", "ORPHA:2593": "Tubular aggregate myopathy/Myopathy, tubular aggregate, 1", "OMIM:160565": "MYOPATHY, TUBULAR AGGREGATE, 1; TAM1", "ORPHA:2596": "Myopathy and diabetes mellitus/Mitochondrial myopathy with diabetes", "OMIM:500002": "MITOCHONDRIAL MYOPATHY WITH DIABETES", "ORPHA:25968": "Benign occipital epilepsy/Epilepsy, benign occipital / Self-limited childhood occipital epilepsy", "OMIM:132090": "EPILEPSY, BENIGN OCCIPITAL; BOE", "ORPHA:2597": "Mitochondrial myopathy-lactic acidosis-deafness syndrome / Mitochondrial myopathy-lactic acidosis-hearing loss syndrome", "ORPHA:11": "Pentasomy X / Pentasomy X syndrome / 49,XXXXX syndrome / Penta-X / Poly-X", "ORPHA:2598": "Mitochondrial myopathy and sideroblastic anemia/Myopathy, lactic acidosis, and sideroblastic anemia 1 / MLASA / Myopathy, lactic acidosis and sideroblastic anemia", "OMIM:600462": "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1", "OMIM:310440": "MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX", "ORPHA:26": "Methylmalonic acidemia with homocystinuria / Combined defect in adenosylcobalamin and methylcobalamin synthesis / Methylmalonic aciduria with homocystinuria", "ORPHA:2604": "Familial visceral myopathy / Familial hollow visceral myopathy / Hereditary hollow visceral myopathy / Megaduodenum and/or megacystis", "ORPHA:2608": "N syndrome/N syndrome", "OMIM:310465": "N SYNDROME; NSX", "ORPHA:2609": "Isolated complex I deficiency/Mitochondrial complex I deficiency, nuclear type 1 / Isolated NADH-CoQ reductase deficiency / Isolated NADH-coenzyme Q reductase deficiency / Isolated NADH-ubiquinone reductase deficiency / Isolated mitochondrial respiratory chain complex I deficiency", "OMIM:252010": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1", "ORPHA:261": "Emery-Dreifuss muscular dystrophy / EDMD", "OMIM:137215": "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME; DGLBC", "ORPHA:110": "Bardet-Biedl syndrome / BBS", "ORPHA:2611": "Linear verrucous nevus syndrome / Linear hamartoma syndrome", "ORPHA:261102": "Distal 7q11.23 microduplication syndrome / Distal dup(7)(q11.23) / Distal trisomy 7q11.23 / Dup7q11.23D", "ORPHA:261112": "Monosomy 9p/Chromosome 9P deletion syndrome / Monosomy 9p syndrome / 9p deletion syndrome / 9p- syndrome / Alfi syndrome", "OMIM:158170": "CHROMOSOME 9p DELETION SYNDROME", "ORPHA:261120": "14q11.2 microdeletion syndrome/Chromosome 14q11-q22 deletion syndrome / Del(14)(q11.2) / Monosomy 14q11.2", "OMIM:613457": "CHROMOSOME 14q11-q22 DELETION SYNDROME", "ORPHA:261144": "FOXG1 syndrome due to 14q12 microdeletion / Del(14)(q12) / Monosomy 14q12", "ORPHA:261183": "15q11.2 microdeletion syndrome/Chromosome 15q11.2 deletion syndrome / 15q11.2 BP1-BP2 microdeletion syndrome / Del(15)(q11.2) / Monosomy 15q11.2", "OMIM:615656": "CHROMOSOME 15q11.2 DELETION SYNDROME", "ORPHA:261190": "15q14 microdeletion syndrome/Chromosome 15q14 deletion syndrome / Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion / Del(15)(q14) / Monosomy 15q14", "OMIM:616898": "CHROMOSOME 15q14 DELETION SYNDROME", "ORPHA:261197": "Proximal 16p11.2 microdeletion syndrome/Chromosome 16p11.2 deletion syndrome, 593-kb / Proximal del(16)(p11.2) / Proximal monosomy 16p11.2", "OMIM:611913": "CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB", "ORPHA:2612": "Linear nevus sebaceus syndrome/Schimmelpenning-Feuerstein-Mims syndrome / Nevus sebaceus of Jadassohn / Nevus sebaceus syndrome / Organoid nevus syndrome / Schimmelpenning syndrome / Solomon syndrome", "OMIM:163200": "SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM", "ORPHA:261204": "16p11.2p12.2 microduplication syndrome / Dup(16)(p11.2p12.2) / Trisomy 16p11.2p12.2", "ORPHA:1101": "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome / Cassia Stocco dos Santos syndrome", "ORPHA:261211": "16p11.2p12.2 microdeletion syndrome/Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb / Del(16)(p11.2p12.2) / Monosomy 16p11.2p12.2", "OMIM:613604": "CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB", "ORPHA:261222": "Distal 16p11.2 microdeletion syndrome / Distal del(16)(p11.2) / Distal monosomy 16p11.2", "ORPHA:261236": "16p13.11 microdeletion syndrome / Del(16)(p13.11) / Monosomy 16p13.11", "ORPHA:261243": "16p13.11 microduplication syndrome / Dup(16)(p13.11) / Trisomy 16p13.11", "ORPHA:261250": "16q24.3 microdeletion syndrome / Del(16)(q24.3) / Monosomy 16q24.3", "ORPHA:261265": "17q12 microdeletion syndrome/Chromosome 17q12 deletion syndrome / Del(17)(q12) / Monosomy 17q12", "OMIM:614527": "CHROMOSOME 17q12 DELETION SYNDROME", "ORPHA:261272": "17q12 microduplication syndrome/Chromosome 17Q12 duplication syndrome / Dup(17)(q12) / Trisomy 17q12", "OMIM:614526": "CHROMOSOME 17q12 DUPLICATION SYNDROME", "ORPHA:261279": "17q23.1q23.2 microdeletion syndrome/Chromosome 17q23.1-q23.2 deletion syndrome / Del(17)(q23.1q23.2) / Monosomy 17q23.1q23.2", "OMIM:613355": "CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME", "ORPHA:1000": "Ocular albinism with late-onset sensorineural deafness/Albinism, ocular, with late-onset sensorineural deafness / Ocular albinism with late-onset sensorineural hearing loss", "OMIM:300650": "ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD", "OMIM:608323": "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC", "ORPHA:1104": "Anophthalmia plus syndrome/Fryns microphthalmia syndrome / Microphthalmia with facial clefting", "OMIM:600776": "FRYNS MICROPHTHALMIA SYNDROME", "ORPHA:261290": "Trisomy 17p / Trisomy 17p syndrome / Dup(17p)", "ORPHA:261295": "20p12.3 microdeletion syndrome / Del(20)(p12.3) / Monosomy 20p12.3", "ORPHA:2613": "Nail-patella-like renal disease/Focal segmental glomerulosclerosis 10 / Salcedo syndrome", "OMIM:256020": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10; FSGS10", "ORPHA:261304": "Paternal 20q13.2q13.3 microdeletion syndrome / Paternal del(20)(q13.2q13.3) / Paternal monosomy 20q13.2q13.3", "ORPHA:261311": "20q13.33 microdeletion syndrome / Del(20)(q13.33) / Monosomy 20q13.33", "ORPHA:261318": "Trisomy 20p / Trisomy 20p syndrome / Dup(20p) / Duplication of 20p / Partial duplication of chromosome 20p / Partial duplication of the short arm of chromosome 20 / Partial trisomy of chromosome 20p / Partial trisomy of the short arm of chromosome 20", "ORPHA:261323": "21q22.11q22.12 microdeletion syndrome / Del(21)(q22.11q22.12) / Monosomy 21q22.11q22.12", "ORPHA:261330": "Distal 22q11.2 microdeletion syndrome/Chromosome 22q11.2 deletion syndrome, distal / Distal del(22)(q11.2) / Distal monosomy 22q11.2", "OMIM:611867": "CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL", "ORPHA:261337": "Distal 22q11.2 microduplication syndrome / Distal dup(22)(q11.2) / Distal trisomy 22q11.2", "ORPHA:261344": "Trisomy 1q / Trisomy 1q syndrome / Duplication 1q", "ORPHA:1106": "Microphthalmia with limb anomalies/Microphthalmia with limb anomalies / Anophthalmia-syndactyly syndrome / OAS / Ophthalmoacromelic syndrome / Waardenburg anophthalmia syndrome", "OMIM:206920": "MICROPHTHALMIA WITH LIMB ANOMALIES; MLA", "ORPHA:261349": "2p15p16.1 microdeletion syndrome/Chromosome 2p16.1-p15 deletion syndrome / Del(2)(p15p16.1) / Monosomy 2p15p16.1", "OMIM:612513": "CHROMOSOME 2p16.1-p15 DELETION SYNDROME", "ORPHA:26137": "Juvenile temporal arteritis / JTA / Non-giant cell granulomatous temporal arteritis with eosinophilia", "ORPHA:2614": "Nail-patella syndrome/Nail-Patella syndrome / Onychoosteodysplasia / Turner-Kieser syndrome", "OMIM:161200": "NAIL-PATELLA SYNDROME; NPS", "ORPHA:261476": "Xp21 deletion syndrome / Complex GKD / Complex glycerol kinase deficiency / Del(X)(p21) / Xp21 contiguous gene deletion syndrome / Xp21 microdeletion syndrome", "ORPHA:261483": "Xq27.3q28 duplication syndrome/Chromosome xq27.3-q28 duplication syndrome / Dup(X)(q27.3q28) / Trisomy Xq27.3-q28 / Trisomy Xq27.3q28 / Xq27.3-q28 microduplication syndrome", "OMIM:300869": "CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME", "ORPHA:261494": "Kleefstra syndrome/Kleefstra syndrome", "OMIM:610253": "KLEEFSTRA SYNDROME 1; KLEFS1", "ORPHA:261519": "Maternal uniparental disomy of chromosome X / Maternal uniparental disomy of chromosome X syndrome / UPD(X)mat", "ORPHA:261524": "Paternal uniparental disomy of chromosome X / Paternal uniparental disomy of chromosome X syndrome / UPD(X)pat", "ORPHA:111": "Barth syndrome/Barth syndrome / 3-methylglutaconic aciduria type 2 / BTHS / Cardioskeletal myopathy with neutropenia and abnormal mitochondria / Cardioskeletal myopathy-neutropenia syndrome / MGA2 / X-linked cardioskeletal myopathy and neutropenia", "OMIM:302060": "BARTH SYNDROME; BTHS", "ORPHA:261529": "Ring chromosome Y syndrome / r(Y)", "ORPHA:261534": "49,XXXYY syndrome", "ORPHA:261584": "Familial adenomatous polyposis due to 5q22.2 microdeletion / Colorectal adenomatous polyposis due to monosomy 5q22.2 / FAP due to monosomy 5q22.2 / Familial adenomatous polyposis due to del(5)(q22.2) / Familial adenomatous polyposis due to monosomy 5q22.2 / Familial polyposis coli due to monosomy 5q22.2", "ORPHA:2616": "3M syndrome/3-M syndrome 1 / Yakut short stature syndrome", "OMIM:273750": "THREE M SYNDROME 1; 3M1", "ORPHA:1110": "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome/Aortic arch anomaly with peculiar facies and mental retardation", "OMIM:107500": "AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:610205": "ALAGILLE SYNDROME 2; ALGS2", "ORPHA:2617": "Microcephalic primordial dwarfism, Montreal type/Microcephalic primordial dwarfism, Montreal type / Bird-headed dwarfism, Montreal type", "OMIM:210700": "MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE", "ORPHA:1112": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome / Johnson-Munson syndrome", "ORPHA:1113": "Aphalangy-syndactyly-microcephaly syndrome/Aphalangia, partial, with syndactyly and duplication of metatarsaliv", "OMIM:600384": "APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV", "ORPHA:2619": "Brachydactylous dwarfism, Mseleni type/Brachydactylous dwarfism, Mseleni type / Mseleni joint disease", "OMIM:613342": "MSELENI JOINT DISEASE", "ORPHA:1114": "Aplasia cutis congenita/Aplasia cutis congenita, nonsyndromic", "OMIM:107600": "APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC", "ORPHA:261911": "Partial deletion of the short arm of chromosome 7 / Partial deletion of the short arm of chromosome 7 syndrome / Partial deletion of chromosome 7p / Partial monosomy of chromosome 7p / Partial monosomy of the short arm of chromosome 7", "ORPHA:1116": "Aplasia cutis congenita-intestinal lymphangiectasia syndrome/Aplasia cutis congenita with intestinal lymphangiectasia / Bronspiegel-Zelnick syndrome", "OMIM:207731": "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 / Severe dystrophinopathy, Duchenne and Becker type", "ORPHA:1117": "Aplasia cutis-myopia syndrome/Aplasia cutis congenita, high myopia, and cone-rod dysfunction / Gershoni-Baruch-Leibo syndrome", "OMIM:601075": "APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION", "ORPHA:1118": "Fibular aplasia-ectrodactyly syndrome/Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia", "OMIM:113310": "BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA", "OMIM:607791": "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID", "ORPHA:112": "Bartter syndrome / Renal tubular normotensive hypokalemic alkalosis with hypercalciuria / Salt-losing tubular disorder, Henle's loop type / Salt-wasting tubulopathy, Henle's loop type", "ORPHA:1120": "Lung agenesis-heart defect-thumb anomalies syndrome/Lung agenesis, congenital heart defects, and thumb anomalies syndrome / Mardini-Nyhan syndrome", "OMIM:601612": "LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME; LACHT", "ORPHA:262767": "Partial trisomy/tetrasomy of the short arm of chromosome 9 / Partial duplication/triplication of the short arm of chromosome 9 syndrome / Partial duplication of chromosome 9p / Partial duplication of the short arm of chromosome 9 / Partial tetrasomy of chromosome 9p / Partial triplication of chromosome 9p / Partial trisomy of chromosome 9p", "ORPHA:1122": "Ulnar hypoplasia-split foot syndrome / Ulnar hypoplasia-lobster-claw deformity of feet syndrome / Van den Berghe-Dequecker syndrome", "ORPHA:1123": "Caudal appendage-deafness syndrome / Caudal appendage-hearing loss syndrome / Lynch-Lee-Murday syndrome", "ORPHA:2631": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome/Mesomelic limb shortening and bowing / Mesomelic dysplasia, Kozlowski-Reardon type / Mesomelic dysplasia, Reardon type / Reardon-Hall-Slaney syndrome", "OMIM:249710": "MESOMELIC LIMB SHORTENING AND BOWING", "ORPHA:2632": "Langer mesomelic dysplasia/Langer mesomelic dysplasia / Mesomelic dwarfism, Langer type", "OMIM:249700": "LANGER MESOMELIC DYSPLASIA; LMD", "ORPHA:263297": "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency/Glycogen storage disease XV / GSD type 15 / GSD type XV / GSD with severe cardiomyopathy due to glycogenin deficiency / Glycogen storage disease type 15 / Glycogen storage disease type XV / Glycogenosis type 15 / Glycogenosis type XV / Glycogenosis with severe cardiomyopathy due to glycogenin deficiency", "OMIM:613507": "GLYCOGEN STORAGE DISEASE XV; GSD15", "ORPHA:2633": "Mesomelic dysplasia, Nievergelt type/Nievergelt syndrome / Mesomelic dwarfism, Nievergelt type", "OMIM:163400": "NIEVERGELT SYNDROME", "OMIM:257550": "OCULAR MOTOR APRAXIA", "ORPHA:2634": "Mesomelic dwarfism, Reinhardt-Pfeiffer type / Reinhardt-Pfeiffer mesomelic dysplasia / Reinhardt-Pfeiffer syndrome", "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 / Congenital hyperinsulinism due to HNF4A deficiency / Hyperinsulinemic hypoglycemia due to HNF4A deficiency", "ORPHA:263458": "Hyperinsulinism due to INSR deficiency/Hyperinsulinemic hypoglycemia, familial, 5 / Hyperinsulinemic hypoglycemia due to INSR deficiency / Hyperinsulinemic hypoglycemia due to insulin receptor deficiency", "OMIM:609968": "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5", "ORPHA:263463": "CHST3-related skeletal dysplasia/Spondyloepiphyseal dysplasia with congenital joint dislocations / Chondrodysplasia with congenital joint dislocations, CHST3 type / SDCD, CHST3 type / Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "OMIM:143095": "SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD", "ORPHA:1129": "Arachnodactyly-abnormal ossification-intellectual disability syndrome / Kosztolanyi syndrome", "OMIM:184095": "SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE", "ORPHA:263487": "COG5-CDG/Congenital disorder of glycosylation, type IIi / CDG syndrome type IIi / CDG-IIi / CDG2I / Carbohydrate deficient glycoprotein syndrome type IIi / Congenital disorder of glycosylation type 2i / Congenital disorder of glycosylation type IIi", "OMIM:613612": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I", "ORPHA:263494": "DPM3-CDG/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 / CDG syndrome type Io / CDG-Io / CDG1O / Carbohydrate deficient glycoprotein syndrome type Io / Congenital disorder of glycosylation type 1o / Congenital disorder of glycosylation type Io", "OMIM:612937": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15", "ORPHA:2635": "Metatropic dysplasia/Metatropic dysplasia / Metatropic dwarfism", "OMIM:156530": "METATROPIC DYSPLASIA; MTD", "ORPHA:263501": "COG4-CDG/Congenital disorder of glycosylation, type IIj / CDG syndrome type IIj / CDG-IIj / CDG2J / Carbohydrate deficient glycoprotein syndrome type IIj / Congenital disorder of glycosylation type 2j / Congenital disorder of glycosylation type IIj", "OMIM:613489": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J", "ORPHA:263508": "COG1-CDG/Congenital disorder of glycosylation, type IIg / CDG syndrome type IIg / CDG-IIg / CDG2G / Carbohydrate deficient glycoprotein syndrome type IIg / Congenital disorder of glycosylation type 2g / Congenital disorder of glycosylation type IIg", "OMIM:611209": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G", "ORPHA:263516": "Progressive myoclonic epilepsy type 3/Epilepsy, progressive myoclonic 3, with or without intracellular inclusions / EPM3 / PME type 3 / Progressive myoclonic epilepsy due to KCTD7 deficiency / Progressive myoclonus epilepsy type 3", "OMIM:611726": "EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3", "ORPHA:263534": "Acral peeling skin syndrome/Peeling skin syndrome, Acral type / Acral PSS / Localized PSS / PSS 2 / Peeling skin syndrome 2", "OMIM:609796": "PEELING SKIN SYNDROME 2; PSS2", "ORPHA:113": "Bazex-Dupré-Christol syndrome/Bazex syndrome / BDCS / Follicular atrophoderma and basal cell carcinomas", "OMIM:301845": "BAZEX-DUPRE-CHRISTOL SYNDROME; BDCS", "OMIM:270300": "PEELING SKIN SYNDROME 1; PSS1", "ORPHA:2636": "Microcephalic osteodysplastic primordial dwarfism types I and III / MOPD types I and III / Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type / Primordial microcephalic dwarfism, Crachami type / Taybi-Linder syndrome", "ORPHA:263665": "NK-cell enteropathy", "ORPHA:2637": "Microcephalic osteodysplastic primordial dwarfism type II/Microcephalic osteodysplastic primordial dwarfism, type II / MOPD type II / Majewski osteodysplastic primordial dwarfism type II", "OMIM:210720": "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2", "ORPHA:1131": "X-linked mandibulofacial dysostosis/Branchial arch syndrome, X-linked / Mandibulofacial dysostosis, Toriello type / X-linked branchial arch syndrome / X-linked mandibulofacial dysostosis with limb anomalies", "OMIM:301950": "BRANCHIAL ARCH SYNDROME, X-LINKED", "ORPHA:2639": "Fibular aplasia-complex brachydactyly syndrome/Fibular hypoplasia and complex brachydactyly / Du Pan syndrome", "OMIM:228900": "ACROMESOMELIC DYSPLASIA 2B; AMD2B", "ORPHA:264200": "14q22q23 microdeletion syndrome/Frias syndrome / 14q22-q23 microdeletion syndrome / Del(14)(q22q23) / Monosomy 14q22-q23 / Monosomy 14q22q23", "OMIM:609640": "FRIAS SYNDROME", "ORPHA:2643": "Microcephalic primordial dwarfism, Toriello type", "ORPHA:264450": "Trisomy 8p / Trisomy 8p syndrome / Duplication 8p", "ORPHA:2645": "Osteoglosphonic dysplasia/Osteoglophonic dysplasia / Osteoglophonic dwarfism", "OMIM:166250": "OSTEOGLOPHONIC DYSPLASIA; OGD", "ORPHA:264580": "Glycogen storage disease due to liver phosphorylase kinase deficiency / GSD due to liver phosphorylase kinase deficiency / GSD type 9A / GSD type 9C / GSD type IXa / GSD type IXc / Glycogen storage disease type 9A / Glycogen storage disease type 9C / Glycogen storage disease type IXa / Glycogen storage disease type IXc / Glycogenosis due to liver phosphorylase kinase deficiency / Glycogenosis type 9A / Glycogenosis type 9C / Glycogenosis type IXa / Glycogenosis type IXc / XLG", "OMIM:168400": "PARASTREMMATIC DWARFISM", "ORPHA:264675": "Hereditary pulmonary alveolar proteinosis / Congenital PAP / Congenital pulmonary alveolar proteinosis", "ORPHA:1133": "AREDYLD syndrome/AREDYLD / Acrorenal defect-ectodermal dysplasia-diabetes syndrome", "OMIM:207780": "AREDYLD", "ORPHA:1134": "Isolated arrhinia / Isolated nose agenesis", "ORPHA:1135": "Arrhinia-choanal atresia-microphthalmia syndrome", "ORPHA:2655": "Thanatophoric dysplasia / TD", "ORPHA:2658": "Lenz-Majewski hyperostotic dwarfism/Lenz-Majewski hyperostotic dwarfism", "OMIM:151050": "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD", "ORPHA:266": "Autosomal dominant limb-girdle muscular dystrophy type 1A / LGMD1A / Limb-girdle muscular dystrophy due to myotilin deficiency", "ORPHA:2662": "Keipert syndrome/Keipert syndrome / Nasodigitoacoustic syndrome", "OMIM:301026": "KEIPERT SYNDROME; KPTS", "ORPHA:2663": "Nathalie syndrome/Nathalie syndrome / Deafness-cataract-skeletal anomalies syndrome / Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome", "OMIM:255990": "NATHALIE SYNDROME", "ORPHA:1136": "Arnold-Chiari malformation type II/Chiari malformation type II / OBSOLETE: Arnold-Chiari malformation type II / OBSOLETE: Arnold-Chiari malformation type 2 / OBSOLETE: Chiari malformation type 2 / OBSOLETE: Chiari malformation type II", "OMIM:207950": "CHIARI MALFORMATION TYPE II", "ORPHA:2668": "Nephropathy-deafness-hyperparathyroidism syndrome / Edwards-Patton-Dilly syndrome / Nephropathy-hearing loss-hyperparathyroidism syndrome", "ORPHA:2669": "Nephrosis-deafness-urinary tract-digital malformations syndrome/Nephrosis with deafness and urinary tract and digital malformations / Braun-Bayer syndrome / Nephrosis-hearing loss-urinary tract-digital malformations syndrome", "OMIM:256200": "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 / Autosomal recessive limb-girdle muscular dystrophy type 2A / Calpain-3-related LGMD R1 / LGMD type 2A / LGMD2A / Limb-girdle muscular dystrophy due to calpain deficiency / Limb-girdle muscular dystrophy type 2A / Primary calpainopathy", "OMIM:618129": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4", "OMIM:609049": "PIERSON SYNDROME; PIERS", "ORPHA:2671": "Neu-Laxova syndrome/Neu-Laxova syndrome 1", "OMIM:256520": "NEU-LAXOVA SYNDROME 1; NLS1", "ORPHA:2672": "Neuhauser-Eichner-Opitz syndrome / Recurrent encephalophathy of childhood", "ORPHA:2673": "Neurofaciodigitorenal syndrome / Freire Maia-Pinheiro-Opitz syndrome", "ORPHA:2678": "Neurofibromatosis type 6/Cafe-Au-Lait spots, multiple / Familial isolated café-au-lait macules / CALs syndrome isolated / Familial CALMs isolated / Familial isolated CALSs / Familial isolated café-au-lait spots / Multiple isolated café-au-lait spots / Multiple isolated café-au-lait syndrome", "OMIM:114030": "CAFE-AU-LAIT SPOTS, MULTIPLE", "ORPHA:26790": "Pseudomyxoma peritonei / Adenomucinosis / Gelatinous ascites / PMP", "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 / Glutaric acidemia type 2 / Glutaric aciduria type 2 / MAD deficiency", "OMIM:231680": "MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD", "ORPHA:26792": "Short chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, short-chain, deficiency of / ACADS deficiency / SCAD deficiency / SCADD", "OMIM:201470": "ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD", "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 / VLCAD deficiency", "OMIM:201475": "ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD", "ORPHA:268": "Dysferlin-related limb-girdle muscular dystrophy R2/Muscular dystrophy, limb-girdle, type 2B / Autosomal recessive limb-girdle muscular dystrophy type 2B / Dysferlin-related LGMD R2 / LGMD due to dysferlin deficiency / LGMD type 2B / LGMD2B / Limb-girdle muscular dystrophy due to dysferlin deficiency / Limb-girdle muscular dystrophy type 2B", "OMIM:253601": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2", "ORPHA:2680": "Hypomyelination neuropathy-arthrogryposis syndrome", "OMIM:614470": "RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD", "ORPHA:114": "Auriculoosteodysplasia/AURICULOOSTEODYSPLASIA", "OMIM:109000": "AURICULOOSTEODYSPLASIA", "ORPHA:268249": "Mycophenolate mofetil embryopathy / MMF embryopathy", "ORPHA:1143": "Neurogenic arthrogryposis multiplex congenita/Arthrogryposis multiplex congenita, Neurogenic type", "OMIM:208100": "ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE; AMC2", "ORPHA:2686": "Cyclic neutropenia/Cyclic neutropenia", "OMIM:162800": "CYCLIC NEUTROPENIA", "ORPHA:1144": "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome/Arthrogryposis-Like hand anomaly and sensorineural deafness / Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome / Distal arthrogryposis type 6", "OMIM:108200": "ARTHROGRYPOSIS, DISTAL, TYPE 6; DA6", "ORPHA:2688": "Adult idiopathic neutropenia/Neutropenia, nonimmune chronic idiopathic, of adults / Adult chronic idiopathic neutropenia", "OMIM:607847": "NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS", "ORPHA:268810": "Posterior meningocele / Isolated posterior meningocele", "ORPHA:1145": "Infantile-onset X-linked spinal muscular atrophy/Spinal muscular atrophy, X-linked 2 / SMAX2 / Spinal muscular atrophy with arthrogryposis / X-linked distal arthrogryposis multiplex congenita / X-linked spinal muscular atrophy type 2", "OMIM:301830": "SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2", "ORPHA:1146": "Distal arthrogryposis type 1/Arthrogryposis, distal, type 1A / DA1 / Digitotalar dysmorphism", "OMIM:108120": "ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A", "ORPHA:268882": "Arnold-Chiari malformation type I/Chiari malformation type I / Arnold-Chiari malformation type 1", "OMIM:118420": "CHIARI MALFORMATION TYPE I", "ORPHA:268940": "Bilateral polymicrogyria", "ORPHA:268943": "Unilateral polymicrogyria", "ORPHA:1147": "Sheldon-Hall syndrome/Arthrogryposis, distal, type 2B / DA2B / Distal arthrogryposis multiplex congenita type 2B / Distal arthrogryposis type 2B / Freeman-Sheldon syndrome variant / SSH", "OMIM:601680": "ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1", "OMIM:607341": "FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2", "ORPHA:269": "Facioscapulohumeral dystrophy / FSH dystrophy / FSHD / Facioscapulohumeral muscular dystrophy / Facioscapulohumeral myopathy / Landouzy-Dejerine dystrophy / Landouzy-Dejerine myopathy", "ORPHA:2690": "Neutropenia-monocytopenia-deafness syndrome / Neutropenia-monocytopenia-hearing loss syndrome", "ORPHA:1149": "Kuskokwim syndrome / Arthrogryposis-like syndrome / Kuskokwim disease", "OMIM:614688": "PONTINE TEGMENTAL CAP DYSPLASIA; PTCD", "ORPHA:115": "Congenital contractural arachnodactyly/Contractural arachnodactyly, congenital / Beals syndrome / Beals-Hecht syndrome / CCA syndrome / Distal arthrogryposis type 9", "OMIM:121050": "CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA", "ORPHA:2695": "Bifid nose", "OMIM:236600": "HYDROCEPHALUS, CONGENITAL, 1; HYC1", "ORPHA:1150": "Arthrogryposis multiplex congenita-whistling face syndrome/Arthrogryposis multiplex congenita with whistling face / Illum syndrome", "OMIM:208155": "ILLUM SYNDROME", "ORPHA:2698": "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome/Bart-Pumphrey syndrome / Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome / Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome / Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome", "OMIM:149200": "BART-PUMPHREY SYNDROME; BAPS", "OMIM:151630": "LIP, MEDIAN NODULE OF UPPER", "ORPHA:27": "Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency / Methylmalonyl-CoA mutase deficiency / Methylmalonyl-Coenzyme A mutase deficiency / Vitamin B12-unresponsive methylmalonic aciduria", "OMIM:251000": "METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY; MAMM", "ORPHA:270": "Oculopharyngeal muscular dystrophy/Oculopharyngeal muscular dystrophy / OPMD", "OMIM:164300": "OCULOPHARYNGEAL MUSCULAR DYSTROPHY 1; OPMD1", "ORPHA:1154": "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome/Arthrogryposis, distal, type 5 / Distal arthrogryposis type 5 / Distal arthrogryposis type IIB / Distal arthrogryposis with ophthalmoplegia / Oculomelic amyoplasia", "OMIM:108145": "ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5", "ORPHA:2701": "Noonan syndrome-like disorder with loose anagen hair / Mazzanti syndrome / NS/LAH", "ORPHA:2703": "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome / Nova syndrome", "ORPHA:2704": "Ochoa syndrome/Urofacial syndrome / Hydronephrosis-inverted smile syndrome / Inverted smile-neurogenic bladder syndrome / Ochoa facial syndrome / Partial facial palsy with urinary abnormalities", "OMIM:236730": "UROFACIAL SYNDROME 1; UFS1", "ORPHA:2707": "Oculocerebrofacial syndrome, Kaufman type/Kaufman oculocerebrofacial syndrome", "OMIM:244450": "KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS", "OMIM:180900": "RUTHERFURD SYNDROME", "ORPHA:2710": "Oculodentodigital dysplasia/Oculodentodigital dysplasia / Meyer-Schwickerath syndrome / Meyer-Schwickerath-Weyers syndrome / ODDD syndrome / ODOD syndrome / Oculo-dento-digital dysplasia / Oculodentodigital syndrome / Oculodentodigitalis dysplasia / Oculodentoosseous dysplasia / Osseous-oculo-dental dysplasia", "OMIM:164200": "OCULODENTODIGITAL DYSPLASIA; ODDD", "ORPHA:2712": "Oculofaciocardiodental syndrome / Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome / OFCD syndrome", "ORPHA:2714": "Oculo-palato-cerebral syndrome/Oculopalatocerebral syndrome / Oculo-palato-cerebral dwarfism", "OMIM:257910": "OCULOPALATOCEREBRAL SYNDROME", "ORPHA:1159": "Progressive pseudorheumatoid arthropathy of childhood/Arthropathy, progressive pseudorheumatoid, of childhood / Progressive pseudorheumatoid dysplasia / PPD / Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome", "OMIM:208230": "PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPRD", "ORPHA:2715": "Severe oculo-renal-cerebellar syndrome/Oculorenocerebellar syndrome / Hunter-Jurenka-Thompson syndrome / ORC syndrome", "OMIM:257970": "OCULORENOCEREBELLAR SYNDROME", "ORPHA:2717": "Oculotrichoanal syndrome/Manitoba oculotrichoanal syndrome / MOTA syndrome / Marles syndrome / Marles-Greenberg-Persaud syndrome", "OMIM:248450": "MANITOBA OCULOTRICHOANAL SYNDROME; MOTA", "ORPHA:116": "Beckwith-Wiedemann syndrome/Beckwith-Wiedemann syndrome / BWS / Exomphalos-macroglossia-gigantism syndrome / Wiedemann-Beckwith syndrome", "OMIM:130650": "BECKWITH-WIEDEMANN SYNDROME; BWS", "ORPHA:2719": "Oculocerebral hypopigmentation syndrome, Cross type/Oculocerebral syndrome with hypopigmentation / Cross syndrome", "OMIM:257800": "OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION", "ORPHA:272": "Congenital muscular dystrophy, Fukuyama type / FCMD / FKTN-related congenital muscular dystrophy / Fukuyama congenital muscular dystrophy", "ORPHA:2720": "Oculocerebral hypopigmentation syndrome, Preus type", "OMIM:257980": "ODONTOONYCHODERMAL DYSPLASIA; OODD", "ORPHA:2722": "Odonto-onycho dysplasia-alopecia syndrome", "OMIM:273400": "TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES", "ORPHA:2724": "Odontomatosis-aortae esophagus stenosis syndrome / Boder syndrome", "ORPHA:2725": "Eye defects-arachnodactyly-cardiopathy syndrome/Al-Gazali syndrome / Al Gazali-Al Talabani syndrome / Al Gazali-Lytle syndrome", "OMIM:609465": "AL-GAZALI SYNDROME; ALGAZ", "ORPHA:2728": "Blepharophimosis-intellectual disability syndrome, Ohdo type/Ohdo syndrome / BMRS, Ohdo type / Blepharophimosis syndrome, Ohdo type / Ohdo-Madokoro-Sonoda syndrome", "OMIM:249620": "OHDO SYNDROME", "ORPHA:1160": "Chylous ascites/Ascites, chylous", "OMIM:208300": "ASCITES, CHYLOUS", "ORPHA:2729": "Okamoto syndrome", "ORPHA:273": "Steinert myotonic dystrophy/Myotonic dystrophy 1 / Myotonic dystrophy type 1 / Steinert disease", "OMIM:160900": "MYOTONIC DYSTROPHY 1; DM1", "ORPHA:2730": "Postaxial tetramelic oligodactyly/Postaxial oligodactyly, tetramelic", "OMIM:176240": "POSTAXIAL OLIGODACTYLY, TETRAMELIC", "ORPHA:2732": "Olivopontocerebellar atrophy-deafness syndrome / Olivopontocerebellar atrophy-hearing loss syndrome", "ORPHA:2736": "Lethal omphalocele-cleft palate syndrome/Omphalocele-Cleft palate syndrome, lethal / Czeizel syndrome", "OMIM:258320": "OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL", "ORPHA:274": "Bernard-Soulier syndrome/Bernard-Soulier syndrome / Giant platelet syndrome / Hemorrhagiparous thrombocytic dystrophy", "OMIM:231200": "BERNARD-SOULIER SYNDROME; BSS", "ORPHA:2741": "Ophthalmomandibulomelic dysplasia/Ophthalmomandibulomelic dysplasia / OMM syndrome / Pillay syndrome", "OMIM:164900": "OPHTHALMOMANDIBULOMELIC DYSPLASIA", "ORPHA:2743": "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome/Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency / Levic-Stefanovic-Nikolic syndrome", "OMIM:165150": "OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY", "ORPHA:2744": "Horizontal gaze palsy with progressive scoliosis/Gaze palsy, familial horizontal, with progressive scoliosis, 1 / HGPPS / Progressive external ophthalmoplegia and scoliosis", "OMIM:607313": "GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1; HGPPS1", "ORPHA:2745": "Opitz GBBB syndrome / Hypertelorism-hypospadias syndrome / Hypertelorism-oesophageal abnormality-hypospadias syndrome / Hypospadias-dysphagia syndrome / Opitz BBB/G syndrome / Opitz BBBG syndrome / Opitz G/BBB syndrome / Opitz-Frias syndrome", "ORPHA:2746": "Opsismodysplasia/Opsismodysplasia", "OMIM:258480": "OPSISMODYSPLASIA; OPSMD", "ORPHA:275": "Severe combined immunodeficiency due to DCLRE1C deficiency / SCID due to ARTEMIS deficiency / SCID due to DCLRE1C deficiency / SCID, Athabascan type / SCID, Athabaskan type / Severe combined immunodeficiency due to ARTEMIS deficiency / Severe combined immunodeficiency, Athabascan type / Severe combined immunodeficiency, Athabaskan type", "ORPHA:2750": "Orofaciodigital syndrome type 1/Orofaciodigital syndrome I / OFD1 / OFDI / OFDSI / Oral-facial-digital syndrome type 1 / Papillon-Léage-Psaume syndrome", "OMIM:311200": "OROFACIODIGITAL SYNDROME I; OFD1", "ORPHA:2751": "Orofaciodigital syndrome type 2/Mohr syndrome / OFD2 / Oral-facial-digital syndrome type 2", "OMIM:252100": "OROFACIODIGITAL SYNDROME II; OFD2", "ORPHA:2752": "Orofaciodigital syndrome type 3/Orofaciodigital syndrome III / OFD3 / Oral-facial-digital syndrome type 3 / Sugarman syndrome", "OMIM:258850": "OROFACIODIGITAL SYNDROME III; OFD3", "ORPHA:2753": "Orofaciodigital syndrome type 4/Orofaciodigital syndrome IV / Baraitser-Burn syndrome / Mohr-Majewski syndrome / OFD4 / Oral-facial-digital syndrome type 4", "OMIM:258860": "OROFACIODIGITAL SYNDROME IV; OFD4", "ORPHA:1164": "Allergic bronchopulmonary aspergillosis / ABPA / Allergic aspergillosis / Hinson-Pepys disease", "ORPHA:2754": "Orofaciodigital syndrome type 6/Orofaciodigital syndrome VI / Joubert syndrome with oral-facial-digital syndrome / Joubert syndrome with orofaciodigital defect / OFD6 / Oral-facial-digital syndrome type 6 / Polydactyly-cleft lip/palate-psychomotor retardation syndrome / Váradi syndrome / Váradi-Papp syndrome", "OMIM:277170": "OROFACIODIGITAL SYNDROME VI; OFD6", "OMIM:300484": "OROFACIODIGITAL SYNDROME VIII; OFD8", "OMIM:607271": "CASPASE 8 DEFICIENCY", "OMIM:614160": "MUSCLE HYPERTROPHY; MSLHP", "ORPHA:275543": "L1 syndrome / CRASH syndrome / Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome / L1CAM syndrome", "ORPHA:275555": "Preeclampsia/Preeclampsia/eclampsia 1", "OMIM:189800": "PREECLAMPSIA/ECLAMPSIA 1; PEE1", "ORPHA:2756": "Orofaciodigital syndrome type 10/Orofaciodigital syndrome X / OBSOLETE: Orofaciodigital syndrome type 10 / OBSOLETE: Figuera syndrome / OBSOLETE: OFD10 / OBSOLETE: Oral-facial-digital syndrome type 10 / OBSOLETE: Orofaciodigital syndrome with fibular aplasia", "OMIM:165590": "OROFACIODIGITAL SYNDROME X; OFD10", "ORPHA:1166": "Congenital unilateral hypoplasia of depressor anguli oris/Cayler cardiofacial syndrome / Isolated asymmetric crying facies", "OMIM:125520": "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 / LAL deficiency", "OMIM:278000": "CHOLESTERYL ESTER STORAGE DISEASE; CESD", "ORPHA:275766": "Idiopathic pulmonary arterial hypertension / IPAH / Primary pulmonary arterial hypertension", "ORPHA:1168": "Ataxia-oculomotor apraxia type 1/Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia / AOA1", "OMIM:208920": "ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH", "ORPHA:275864": "Behavioral variant of frontotemporal dementia / bv-FTD", "ORPHA:275872": "Frontotemporal dementia with motor neuron disease / FTD-ALS / FTD-MND / Frontotemporal dementia with amyotrophic lateral sclerosis", "ORPHA:117": "Behçet disease/Behcet syndrome", "OMIM:109650": "BEHCET SYNDROME", "ORPHA:2759": "Imperforate oropharynx-costovertebral anomalies syndrome / Seghers syndrome", "ORPHA:276": "T-B+ severe combined immunodeficiency due to gamma chain deficiency/Severe combined immunodeficiency, X-linked / SCIDX1 / T-B+ SCID due to gamma chain deficiency / T-B+ severe combined immunodeficiency, X-linked", "OMIM:300400": "SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1", "ORPHA:2760": "OSLAM syndrome/Oslam syndrome / Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome", "OMIM:165660": "OSLAM SYNDROME", "ORPHA:1170": "Autosomal recessive cerebelloparenchymal disorder type 3/Spinocerebellar ataxia, autosomal recessive 2 / Autosomal recessive spinocerebellar ataxia type 2 / SCAR2", "OMIM:213200": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2", "ORPHA:276152": "Multiple endocrine neoplasia type 4/Multiple endocrine neoplasia, type IV / MEN4", "OMIM:610755": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4", "ORPHA:276183": "Spinocerebellar ataxia type 32/Spinocerebellar ataxia 32 / Cerebellar ataxia with azoospermia and intellectual disability / SCA32", "OMIM:613909": "SPINOCEREBELLAR ATAXIA 32; SCA32", "ORPHA:276193": "Spinocerebellar ataxia type 35/Spinocerebellar ataxia 35 / SCA35", "OMIM:613908": "SPINOCEREBELLAR ATAXIA 35; SCA35", "ORPHA:276198": "Spinocerebellar ataxia type 36/Spinocerebellar ataxia 36 / Asidan / SCA36", "OMIM:614153": "SPINOCEREBELLAR ATAXIA 36; SCA36", "ORPHA:2762": "Progressive osseous heteroplasia/Osseous heteroplasia, progressive / Familial ectopic ossification / POH", "OMIM:166350": "OSSEOUS HETEROPLASIA, PROGRESSIVE; POH", "ORPHA:1171": "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome/Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss / CAPOS syndrome / Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome", "OMIM:601338": "CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS", "ORPHA:276238": "Machado-Joseph disease type 1 / SCA3, Joseph type / Spinocerebellar ataxia type 3, Joseph type", "ORPHA:276241": "Machado-Joseph disease type 2 / SCA3, Thomas type / Spinocerebellar ataxia, Thomas type", "ORPHA:276244": "Machado-Joseph disease type 3 / SCA3, Machado type / Spinocerebellar ataxia type 3, Machado type", "ORPHA:276280": "Hemihyperplasia-multiple lipomatosis syndrome / HHML", "OMIM:602361": "GRACILE BONE DYSPLASIA; GCLEB", "ORPHA:276399": "Familial multinodular goiter/Goiter, multinodular 1 / FMNG / Familial MNG / Familial multinodular goiter syndrome", "OMIM:138800": "GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1", "ORPHA:2764": "Osteochondritis dissecans / König disease", "OMIM:614156": "HYPERBILIVERDINEMIA; HBLVD", "ORPHA:276413": "10q22.3q23.3 microdeletion syndrome/Chromosome 10q22.3-q23.2 deletion syndrome / Del(10)(q22.3q23.3) / Deletion 10q22.3q23.3 / Monosomy 10q22.3q23.3", "OMIM:612242": "CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME", "ORPHA:276422": "10q22.3q23.3 microduplication syndrome / Dup(10)(q22.3q23.3) / Trisomy 10q22.3q23.3", "ORPHA:276432": "Ogden syndrome/Ogden syndrome / Premature aging appearance-developmental delay-cardiac arrhythmia syndrome", "OMIM:300855": "OGDEN SYNDROME; OGDNS", "ORPHA:276435": "Lower motor neuron syndrome with late-adult onset/Spinal muscular atrophy, Jokela type / LOSMoN / Late-onset spinal motor neuronopathy / SMAJ", "OMIM:615048": "SPINAL MUSCULAR ATROPHY, JOKELA TYPE; SMAJ", "ORPHA:276556": "Hyperinsulinism due to UCP2 deficiency / Hyperinsulinemic hypoglycemia due to UCP2 deficiency", "ORPHA:276575": "Autosomal dominant hyperinsulinism due to SUR1 deficiency / Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency", "ORPHA:276580": "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency / Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency / Dominant KATP hyperinsulinism due to Kir6.2 deficiency", "ORPHA:1173": "Cerebellar ataxia-hypogonadism syndrome/Cerebellar ataxia and hypogonadotropic hypogonadism / Gordon-Holmes syndrome / Luteinizing hormone-releasing hormone deficiency with ataxia", "OMIM:212840": "GORDON HOLMES SYNDROME; GDHS", "ORPHA:276608": "Non-insulinoma pancreatogenous hypoglycemia syndrome / NIPHS", "ORPHA:276621": "Sporadic pheochromocytoma/secreting paraganglioma", "ORPHA:276630": "Symptomatic form of Coffin-Lowry syndrome in female carriers", "ORPHA:2768": "Blount disease / Infantile tibia vara / Osteochondrosis deformans tibiae / Tibia vara Blount", "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 / ADA deficiency / SCID due to adenosine deaminase deficiency", "OMIM:102700": "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 / NHD / PLO-SL / PLOSL", "OMIM:221770": "POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1; PLOSL1", "OMIM:618193": "POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2", "ORPHA:2771": "Bruck syndrome/Bruck syndrome 1 / Osteogenesis imperfecta-congenital joint contractures syndrome", "OMIM:259450": "BRUCK SYNDROME 1; BRKS1", "ORPHA:2772": "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome/Osteogenesis imperfecta congenita, microcephaly, and cataracts", "OMIM:259410": "OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS", "ORPHA:2773": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome / Al Gazali-Nair syndrome", "ORPHA:2774": "Multicentric carpo-tarsal osteolysis with or without nephropathy/Multicentric carpotarsal osteolysis syndrome / Idiopathic multicentric osteolysis with or without nephropathy", "OMIM:166300": "MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO", "ORPHA:2776": "Autosomal recessive distal osteolysis syndrome / Distal osteolysis-short stature-intellectual disability syndrome / Petit-Fryns syndrome", "ORPHA:2777": "Osteomesopyknosis/OSTEOMESOPYKNOSIS / Axial osteosclerosis / Osteomesopycnosis", "OMIM:166450": "OSTEOMESOPYKNOSIS", "ORPHA:2779": "Osteopathia striata-pigmentary dermopathy-white forelock syndrome / Whyte-Murphy syndrome", "ORPHA:2780": "Osteopathia striata-cranial sclerosis syndrome/Osteopathia striata with cranial sclerosis / Hyperostosis generalisata with striations / Robinow-Unger syndrome", "OMIM:300373": "OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS", "ORPHA:100050": "Hereditary angioedema type 1/Angioedema, hereditary, 1 / HAE 1 / HAE-I / Hereditary angioneurotic edema type 1", "OMIM:106100": "ANGIOEDEMA, HEREDITARY, 1; HAE1", "ORPHA:1175": "X-linked progressive cerebellar ataxia", "OMIM:607634": "OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1", "ORPHA:2785": "Osteopetrosis with renal tubular acidosis/Osteopetrosis, autosomal recessive 3 / Carbonic anhydrase 2 deficiency / Guibaud-Vainsel syndrome / Marble brain disease / Mixed RTA / Mixed renal tubular acidosis / Renal tubular acidosis type 3", "OMIM:259730": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3", "ORPHA:2786": "Osteoporosis-oculocutaneous hypopigmentation syndrome / Hernández-Fragoso syndrome / OOCHS", "ORPHA:2787": "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome / OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome / OBSOLETE: Heide syndrome", "ORPHA:2788": "Osteoporosis-pseudoglioma syndrome/Osteoporosis-pseudoglioma syndrome / OPPG / Ocular form of osteogenesis imperfecta", "OMIM:259770": "OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG", "ORPHA:2789": "Lateral meningocele syndrome/Lateral meningocele syndrome / Lehman syndrome", "OMIM:130720": "LATERAL MENINGOCELE SYNDROME; LMNS", "ORPHA:2790": "Endosteal hyperostosis, Worth type/Hyperostosis, endosteal / Autosomal dominant osteosclerosis, Worth type / Worth syndrome", "OMIM:144750": "ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT", "ORPHA:2791": "Otodental syndrome/Otodental dysplasia / Globodontia", "OMIM:166750": "OTODENTAL DYSPLASIA", "ORPHA:2792": "Otofaciocervical syndrome/Otofaciocervical syndrome / Fara-Chlupackova syndrome / OFC syndrome", "OMIM:166780": "OTOFACIOCERVICAL SYNDROME 1; OTFCS", "ORPHA:2793": "Otoonychoperoneal syndrome/Otoonychoperoneal syndrome", "OMIM:259780": "OTOONYCHOPERONEAL SYNDROME", "ORPHA:2795": "Fowler urethral sphincter dysfunction syndrome / Fowler syndrome / Fowler-Christmas-Chapple syndrome", "ORPHA:2796": "Pachydermoperiostosis/Hypertrophic osteoarthropathy, primary, autosomal recessive 1 / PDP / Touraine-Solente-Gole syndrome", "OMIM:259100": "HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1", "ORPHA:2798": "Pachygyria-intellectual disability-epilepsy syndrome/Pachygyria with mental retardation, seizures, and arachnoid cysts / Kuzniecky syndrome", "OMIM:600176": "PACHYGYRIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT, SEIZURES, AND ARACHNOID CYSTS", "ORPHA:279882": "Spasmus nutans", "ORPHA:279914": "Intermediate uveitis / IU", "OMIM:251880": "MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3", "OMIM:162830": "NEUTROPHILIA, HEREDITARY", "ORPHA:279947": "Postorgasmic illness syndrome / POIS", "ORPHA:28": "Vitamin B12-responsive methylmalonic acidemia / Adenosylcobalamin deficiency / Vitamin B12-responsive methylmalonic aciduria", "ORPHA:1177": "Early-onset cerebellar ataxia with retained tendon reflexes / EOCA / EOCARR / Harding ataxia", "ORPHA:280": "Wolf-Hirschhorn syndrome/Wolf-Hirschhorn syndrome / 4p- syndrome / Distal deletion 4p / Distal monosomy 4p / Telomeric deletion 4p", "OMIM:194190": "WOLF-HIRSCHHORN SYNDROME; WHS", "OMIM:167300": "PAGET DISEASE, EXTRAMAMMARY", "ORPHA:280062": "Calciphylaxis", "ORPHA:280071": "ALG11-CDG/Congenital disorder of glycosylation, type Ip / CDG syndrome type Ip / CDG-Ip / CDG1P / Carbohydrate deficient glycoprotein syndrome type Ip / Congenital disorder of glycosylation type 1p / Congenital disorder of glycosylation type Ip", "OMIM:613661": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P", "ORPHA:2801": "Juvenile Paget disease/Paget disease of bone 5, juvenile-onset / Familial osteoectasia / Hereditary hyperphosphatasia / Hyperostosis corticalis deformans juvenilis / JPG", "OMIM:239000": "PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5", "OMIM:613779": "COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D", "OMIM:615758": "IMMUNODEFICIENCY 22; IMD22", "OMIM:613646": "METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT; MATR", "ORPHA:1178": "Ataxia-tapetoretinal degeneration syndrome", "ORPHA:2802": "X-linked sideroblastic anemia and spinocerebellar ataxia/Anemia, sideroblastic, and spinocerebellar ataxia / Pagon-Bird-Detter syndrome / X-linked sideroblastic anemia with ataxia / XLSA-A", "OMIM:301310": "SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA; SCAX6", "ORPHA:280200": "Microform holoprosencephaly / HPE, minor form / HPE-L / Holoprosencephaly, minor form / Holoprosencephaly-like / Microform HPE", "ORPHA:1179": "Benign paroxysmal tonic upgaze of childhood with ataxia / Ouvrier-Billson syndrome", "OMIM:608804": "LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2", "OMIM:612233": "LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4", "OMIM:260600": "LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3", "ORPHA:280333": "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 / Alpha-dystroglycan-related LGMD R16 / Autosomal recessive limb-girdle muscular dystrophy type 2P / LGMD type 2P / LGMD2P / Limb-girdle muscular dystrophy type 2P", "OMIM:613818": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9", "ORPHA:280356": "PLIN1-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 4 / FPLD4 / PLIN1-related FPLD", "OMIM:613877": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4", "ORPHA:280365": "Autosomal semi-dominant severe lipodystrophic laminopathy", "ORPHA:118": "Beta-mannosidosis/Mannosidosis, beta / Beta-mannosidase deficiency", "OMIM:248510": "MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB", "ORPHA:280384": "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome / IDMDC", "ORPHA:280397": "Familial Alzheimer-like prion disease", "ORPHA:2804": "W syndrome / Pallister-W syndrome", "OMIM:614650": "COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6", "OMIM:260370": "PANCREATIC AGENESIS 1; PAGEN1", "ORPHA:1180": "Ataxia-hypogonadism-choroidal dystrophy syndrome/Boucher-Neuhauser syndrome / Boucher-Neuhäuser syndrome", "OMIM:215470": "BOUCHER-NEUHAUSER SYNDROME; BNHS", "OMIM:613869": "MYOPATHY, MYOFIBRILLAR, 2B, INFANTILE-ONSET; MFM2B", "OMIM:613398": "WARSAW BREAKAGE SYNDROME; WABS", "OMIM:614008": "NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS", "OMIM:614078": "CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE", "OMIM:260470": "SUBACUTE SCLEROSING PANENCEPHALITIS; SSPE", "OMIM:614018": "EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6", "ORPHA:280633": "Multiple congenital anomalies-hypotonia-seizures syndrome/Multiple congenital anomalies-hypotonia-seizures syndrome 1 / Congenital disorder of glycosylation due to PIGN deficiency / PIGN-CDG", "OMIM:614080": "MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1", "ORPHA:1182": "Spastic ataxia with congenital miosis/Spastic ataxia 7, autosomal dominant / Autosomal dominant spastic ataxia type 7 / SPAX7", "OMIM:108650": "SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7", "OMIM:614115": "CORTICAL MALFORMATIONS, OCCIPITAL; OCCM", "ORPHA:280651": "Acrodysostosis with multiple hormone resistance / OBSOLETE: Acrodysostosis with multiple hormone resistance", "OMIM:614171": "HERMANSKY-PUDLAK SYNDROME 9; HPS9", "OMIM:602541": "MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC", "ORPHA:280679": "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome/Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism / Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism", "OMIM:300845": "MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM; MYMY4", "ORPHA:2807": "Papilloma of choroid plexus/Papilloma of choroid plexus / CPP / Choroid plexus papilloma", "OMIM:260500": "PAPILLOMA OF CHOROID PLEXUS; CPP", "ORPHA:280763": "Severe intellectual disability and progressive spastic paraplegia / AP4 deficiency syndrome", "ORPHA:280779": "Cutaneous collagenous vasculopathy / CCV", "ORPHA:280785": "Bullous diffuse cutaneous mastocytosis / Bullous DCM", "ORPHA:280794": "Pseudoxanthomatous diffuse cutaneous mastocytosis / Infiltrative small vesicular DCM / Infiltrative small vesicular diffuse cutaneous mastocytosis / Pseudoxanthomatous DCM", "ORPHA:2808": "Laryngeal abductor paralysis/Laryngeal abductor paralysis / Familial vocal cord dysfunction / Gerhardt syndrome", "OMIM:150260": "LARYNGEAL ABDUCTOR PARALYSIS", "ORPHA:1184": "Ataxia-photosensitivity-short stature syndrome / Fenton-Wilkinson-Toselano syndrome", "OMIM:134200": "FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL", "ORPHA:280914": "Idiopathic anterior uveitis / Isolated idiopathic anterior uveitis / Isolated IAU", "ORPHA:280921": "Idiopathic panuveitis", "ORPHA:1185": "Spinocerebellar ataxia-dysmorphism syndrome", "ORPHA:281": "Monosomy 5p/Cri-Du-Chat syndrome / Monosomy 5p syndrome / Cri du chat syndrome / Deletion 5p", "OMIM:123450": "CRI-DU-CHAT SYNDROME", "ORPHA:281090": "Syndromic recessive X-linked ichthyosis / Recessive X-linked ichthyosis with extracutaneous manifestations / Syndromic RXLI", "ORPHA:281122": "Self-improving collodion baby / SHCB / SICI / Self-healing collodion baby / Self-improving congenital ichthyosis", "ORPHA:281127": "Acral self-healing collodion baby / Acral SHCB", "OMIM:607602": "ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 1; AEI1", "ORPHA:1186": "Infantile-onset spinocerebellar ataxia/Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) / IOSCA / Ohaha syndrome / Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome", "OMIM:271245": "MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7", "OMIM:609165": "ICHTHYOSIS WITH CONFETTI; IWC", "ORPHA:2812": "Parana hard skin syndrome/Parana hard-skin syndrome / Hard skin syndrome, Parana type", "OMIM:260530": "PARANA HARD-SKIN SYNDROME", "ORPHA:281201": "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome/Keratosis linearis with ichthyosis congenita and sclerosing keratoderma / KLICK syndrome", "OMIM:601952": "KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA; KLICK", "ORPHA:2815": "Spastic paraparesis-deafness syndrome/Spastic paraparesis and deafness / Spastic paraparesis-hearing loss syndrome / Wells-Jankovic syndrome", "OMIM:312910": "SPASTIC PARAPARESIS AND DEAFNESS", "ORPHA:1187": "Lethal ataxia with deafness and optic atrophy/Arts syndrome / Lethal ataxia with hearing loss and optic atrophy", "OMIM:301835": "ARTS SYNDROME; ARTS", "ORPHA:2818": "Spastic paraplegia-glaucoma-intellectual disability syndrome/Spastic paresis, glaucoma, and mental retardation", "OMIM:270850": "SPASTIC PARESIS, GLAUCOMA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "ORPHA:2819": "Spastic paraplegia-facial-cutaneous lesions syndrome / Bahemuka-Brown syndrome", "OMIM:600274": "FRONTOTEMPORAL DEMENTIA 1; FTD1", "ORPHA:2820": "Spastic paraplegia-nephritis-deafness syndrome/Spastic paraplegia, sensorineural deafness, mental retardation, and / Fitzsimmons-Walson-Mellor syndrome / Spastic paraplegia-nephritis-hearing loss syndrome", "OMIM:182690": "SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND PROGRESSIVE NEPHROPATHY", "ORPHA:2821": "Spastic paraplegia-neuropathy-poikiloderma syndrome/Spastic paraplegia with neuropathy and poikiloderma / Antinolo-Nieto-Borrego syndrome", "OMIM:182815": "SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA", "ORPHA:282166": "Inherited Creutzfeldt-Jakob disease/Creutzfeldt-Jakob disease / Inherited CJD", "OMIM:123400": "CREUTZFELDT-JAKOB DISEASE; CJD", "ORPHA:2822": "Autosomal recessive spastic paraplegia type 11/Spastic paraplegia 11, autosomal recessive / Nakamura-Osame syndrome / SPG11 / Spastic paraplegia-intellectual disability-thin corpus callosum syndrome", "OMIM:604360": "SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11", "ORPHA:2824": "Paraplegia-intellectual disability-hyperkeratosis syndrome/Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis / Fitzsimmons-McLachlan-Gilbert syndrome", "OMIM:309560": "IMPAIRED INTELLECTUAL DEVELOPMENT WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS", "ORPHA:1188": "Ataxia-deafness-intellectual disability syndrome/Ataxia-Deafness-Retardation syndrome / Ataxia-hearing loss-intellectual disability syndrome / Reardon-Baraitser syndrome", "OMIM:208850": "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 / Early-onset Parkinson disease / YOPD", "ORPHA:2831": "Rhizomelic dysplasia, Patterson-Lowry type/Rhizomelic dysplasia, Patterson-Lowry type", "OMIM:601438": "RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE", "OMIM:600269": "SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE", "ORPHA:2833": "Stiff skin syndrome/Stiff skin syndrome", "OMIM:184900": "STIFF SKIN SYNDROME; SSKS", "ORPHA:2834": "Wrinkly skin syndrome/Wrinkly skin syndrome / WSS / Wrinkled skin syndrome", "OMIM:278250": "WRINKLY SKIN SYNDROME; WSS", "ORPHA:2835": "Pectus excavatum-macrocephaly-dysplastic nails syndrome/Pectus excavatum, macrocephaly, short stature, and dysplastic nails / Zori-Stalker-Williams syndrome", "OMIM:600399": "PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS", "ORPHA:2836": "PEHO syndrome/Peho syndrome / Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy", "OMIM:260565": "PEHO SYNDROME; PEHO", "ORPHA:119": "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4/Muscular dystrophy, limb-girdle, type 2E / Autosomal recessive limb-girdle muscular dystrophy type 2E / Beta-sarcoglycan-related LGMD R4 / Beta-sarcoglycanopathy / LGMD due to beta-sarcoglycan deficiency / LGMD type 2E / LGMD2E / Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency / Limb-girdle muscular dystrophy type 2E", "OMIM:604286": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4", "ORPHA:28378": "Tyrosinemia type 2/Tyrosine transaminase deficiency / Keratosis palmoplantaris-corneal dystrophy syndrome / Oculocutaneous tyrosinemia / Richner-Hanhart syndrome / Tyrosinemia due to TAT deficiency / Tyrosinemia due to tyrosine aminotransferase deficiency / Tyrosinemia type II", "OMIM:276600": "TYROSINEMIA, TYPE II; TYRSN2", "ORPHA:2838": "Renal caliceal diverticuli-deafness syndrome / Renal caliceal diverticuli-hearing loss syndrome", "ORPHA:2839": "Pelvis-shoulder dysplasia/Pelvis-Shoulder dysplasia / Kosenow syndrome / Scapuloiliac dysostosis", "OMIM:169550": "PELVIS-SHOULDER DYSPLASIA", "ORPHA:2840": "Pelvic dysplasia-arthrogryposis of lower limbs syndrome/Pelvic dysplasia - arthrogryposis of lower limbs / Ray-Peterson-Scott syndrome", "OMIM:602484": "PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS", "ORPHA:2841": "Familial benign chronic pemphigus/Benign chronic pemphigus / Hailey-Hailey disease / Benign chronic familial pemphigus", "OMIM:169600": "HAILEY-HAILEY DISEASE; HHD", "OMIM:245600": "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD", "OMIM:614188": "CRANIOSYNOSTOSIS AND DENTAL ANOMALIES; CRSDA", "ORPHA:284160": "8q21.11 microdeletion syndrome/Chromosome 8q21.11 deletion syndrome / Del(8)(q21.11) / Deletion 8q21.11 / Monosomy 8q21.11", "OMIM:614230": "CHROMOSOME 8q21.11 DELETION SYNDROME", "ORPHA:1190": "Atelosteogenesis type I/Atelosteogenesis, type I / AO1 / AOI / Atelosteogenesis type 1 / Giant cell chondrodysplasia / Spondylo-humero-femoral dysplasia", "OMIM:108720": "ATELOSTEOGENESIS, TYPE I; AO1", "ORPHA:284180": "Xp22.13p22.2 duplication syndrome / Dup(X)(p22) / Dup(X)(p22.13p22.2) / Duplication Xp22", "ORPHA:2842": "Penoscrotal transposition", "ORPHA:284227": "TEMPI syndrome / Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome", "OMIM:614228": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O", "OMIM:614224": "RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS; RAMSVPS", "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 / Autosomal recessive spinocerebellar ataxia type 11 / SCAR11", "OMIM:614229": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11; SCAR11", "ORPHA:284282": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency/Spinocerebellar ataxia, autosomal recessive 12 / Autosomal recessive spinocerebellar ataxia type 12 / SCAR12", "OMIM:614322": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12", "ORPHA:284289": "Adult-onset autosomal recessive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 10 / Autosomal recessive spinocerebellar ataxia type 10 / SCAR10", "OMIM:613728": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10", "ORPHA:2843": "Pentosuria/PENTOSURIA / Essential pentosuria / Xylitol dehydrogenase deficiency", "OMIM:260800": "PENTOSURIA; PNTSU", "ORPHA:1192": "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome/Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease / Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome / Feigenbaum-Bergeron-Richardson syndrome", "OMIM:209010": "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 / Autosomal recessive spinocerebellar ataxia type 7 / SCAR7", "OMIM:609270": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7", "ORPHA:284332": "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 6 / Autosomal recessive spinocerebellar ataxia type 6 / SCAR6", "OMIM:608029": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6", "ORPHA:284339": "Pontocerebellar hypoplasia type 7/Pontocerebellar hypoplasia, type 7 / PCH7 / Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome", "OMIM:614969": "PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7", "ORPHA:284400": "Small cell carcinoma of the bladder / Poorly differentiated neuroendocrine carcinoma of the bladder / SCCB / Small cell bladder cancer / Small cell bladder carcinoma / Small cell carcinoma of the urinary bladder", "ORPHA:1193": "Atkin-Flaitz syndrome / X-linked intellectual disability, Atkin type", "ORPHA:284417": "Phosphoserine aminotransferase deficiency, infantile/juvenile form/Phosphoserine aminotransferase deficiency / PSAT deficiency, infantile/juvenile form", "OMIM:610992": "PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD", "ORPHA:284426": "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency/Glycogen storage disease XI / GSD due to lactate dehydrogenase M-subunit deficiency / Glycogenosis due to lactate dehydrogenase M-subunit deficiency / LDH-M subunit deficiency / Lactate dehydrogenase A deficiency", "OMIM:612933": "GLYCOGEN STORAGE DISEASE XI; GSD11", "OMIM:614128": "LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD", "ORPHA:2847": "Pericardial and diaphragmatic defect", "ORPHA:1194": "TMEM70-related mitochondrial encephalo-cardio-myopathy/Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 / Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency / Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency / Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency", "OMIM:614052": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2", "ORPHA:2848": "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome/Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome / Arthropathy-camptodactyly syndrome / CACP syndrome / Pericarditis-arthropathy-camptodactyly syndrome", "OMIM:208250": "CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP", "ORPHA:2849": "Perlman syndrome/Perlman syndrome / Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome", "OMIM:267000": "PERLMAN SYNDROME; PRLMNS", "OMIM:154700": "MARFAN SYNDROME; MFS", "OMIM:610618": "ANGIOEDEMA, HEREDITARY, 3; HAE3", "ORPHA:1195": "Congenital atransferrinemia/ATRANSFERRINEMIA / Congenital hypotransferrinemia", "OMIM:209300": "ATRANSFERRINEMIA", "ORPHA:284979": "Neonatal Marfan syndrome / Neonatal MFS", "ORPHA:284984": "Aneurysm-osteoarthritis syndrome/Loeys-Dietz syndrome 3", "OMIM:613795": "LOEYS-DIETZ SYNDROME 3; LDS3", "ORPHA:285": "Hypermobile Ehlers-Danlos syndrome/Ehlers-danlos syndrome, Hypermobility type / EDS III / EDS-HT / Ehlers-Danlos syndrome hypermobility type / Ehlers-Danlos syndrome type 3 / Hypermobile EDS / hEDS", "OMIM:130020": "EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE; EDSHMB", "ORPHA:2850": "Alopecia-intellectual disability syndrome/Alopecia-Mental retardation syndrome 1 / Perniola-Krajewska-Carnevale syndrome", "OMIM:203650": "ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 1; APMR1", "OMIM:228930": "FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING, AND POLY-, SYN-, AND OLIGODACTYLY", "OMIM:233400": "PERRAULT SYNDROME 1; PRLTS1", "ORPHA:2856": "Persistent Müllerian duct syndrome/Persistent mullerian duct syndrome, types I and II / PMDS / Persistent Müllerian derivatives", "OMIM:261550": "PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS", "ORPHA:1198": "Colonic atresia", "ORPHA:286": "Vascular Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, Vascular type / Arterial-ecchymotic EDS / EDS IV / Ehlers-Danlos syndrome type 4 / Sack-Barabas syndrome / Vascular EDS / vEDS", "OMIM:130050": "EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC", "ORPHA:2863": "Short stature-wormian bones-dextrocardia syndrome / Stratton-Parker syndrome", "ORPHA:2865": "Short stature-webbed neck-heart disease syndrome / Al Gazali-Aziz-Salem syndrome", "ORPHA:2866": "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome / Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome / Thong-Douglas-Ferrante syndrome", "ORPHA:2867": "Short stature, Brussels type / Mievis-Verellen-Dumoulin syndrome", "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 / Hamartomatous intestinal polyposis", "OMIM:175200": "PEUTZ-JEGHERS SYNDROME; PJS", "ORPHA:287": "Classical Ehlers-Danlos syndrome/Ehlers-danlos syndrome, type I / Classical EDS / cEDS", "OMIM:130000": "EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1", "ORPHA:2871": "Pfeiffer-Palm-Teller syndrome", "ORPHA:2872": "Cardiocranial syndrome, Pfeiffer type / Craniosynostosis-congenital heart disease-intellectual disability syndrome / Pfeiffer-Singer-Zschiesche syndrome", "ORPHA:1199": "Esophageal atresia/Tracheoesophageal fistula with or without esophageal atresia / CEA / Congenital esophageal atresia / EA/TEF / Esophageal atresia with or without trachea-esophageal fistula / Oesophageal atresia", "OMIM:189960": "TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA", "ORPHA:2875": "Phakomatosis pigmentovascularis", "ORPHA:2876": "PHAVER syndrome / Powell-Chandra-Saal syndrome", "ORPHA:2878": "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome/Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia / OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome / OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome / OBSOLETE: Stoll-Lévy-Francfort syndrome", "OMIM:171480": "PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA", "ORPHA:2879": "Phocomelia, Schinzel type/Ulna and fibula, absence of, with severe limb deficiency / Al Awadi-Raas-Rothschild syndrome / Aplasia/hypoplasia of limbs and pelvis / Congenital absence of ulna and fibula / Severe limb deficit", "OMIM:276820": "ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY", "ORPHA:288": "Hereditary elliptocytosis / HE", "OMIM:219095": "CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL", "CCRD:108": "谷固醇血症/Sitosterolemia; Phytosterolemia/Sitosterolemia 1", "OMIM:210250": "SITOSTEROLEMIA 1; STSL1", "ORPHA:2884": "Piebaldism/Piebald trait", "OMIM:172800": "PIEBALD TRAIT; PBT", "ORPHA:1200": "Burn-McKeown syndrome/Burn-Mckeown syndrome / Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome", "OMIM:608572": "BURN-MCKEOWN SYNDROME; BMKS", "ORPHA:2885": "Piebald trait-neurologic defects syndrome/Piebald trait with neurologic defects / Telfer-Sugar-Jaeger syndrome", "OMIM:172850": "PIEBALD TRAIT WITH NEUROLOGIC DEFECTS", "ORPHA:2886": "TARP syndrome/Tarp syndrome / Pierre Robin sequence-congenital heart defect-talipes syndrome / Pierre Robin syndrome-congenital heart defect-talipes syndrome / Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome", "OMIM:311900": "TARP SYNDROME; TARPS", "OMIM:311895": "PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES", "ORPHA:2889": "Pili torti/Pili torti, early-onset / Twisted hair", "OMIM:261900": "PILI TORTI, EARLY-ONSET", "ORPHA:289": "Ellis Van Creveld syndrome/Ellis-Van creveld syndrome / Chondroectodermal dysplasia / Mesodermic dysplasia", "OMIM:225500": "ELLIS-VAN CREVELD SYNDROME; EVC", "ORPHA:2890": "Pili torti-onychodysplasia syndrome", "ORPHA:2891": "Pili torti-developmental delay-neurological abnormalities syndrome/Abnormal hair, joint laxity, and developmental delay", "OMIM:261990": "ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY; HJDD", "ORPHA:289157": "Hypocalcemic vitamin D-dependent rickets/Vitamin D hydroxylation-deficient rickets, type 1A / 1-alpha-hydroxylase deficiency / PDDRI / Pseudovitamin D-deficient rickets / VDDI / VDDR-I / Vitamin D dependent rickets type I / Vitamin D-dependency type I", "OMIM:264700": "VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A", "ORPHA:1201": "Atresia of small intestine/Jejunal atresia / Small bowel atresia / Atresia of small bowel / Jejunoileal atresia / SBA / Small intestinal atresia", "OMIM:243600": "JEJUNAL ATRESIA", "ORPHA:289176": "Autosomal recessive hypophosphatemic rickets / ARHR", "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; MMSDHD", "OMIM:159580": "MYELOPATHY, HTLV-1-ASSOCIATED; HAM", "ORPHA:1202": "Larynx atresia/Larynx, congenital partial atresia of", "OMIM:150300": "LARYNX, CONGENITAL PARTIAL ATRESIA OF", "OMIM:611705": "CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; CMYO5", "OMIM:255600": "MYOSCLEROSIS, AUTOSOMAL RECESSIVE", "ORPHA:289390": "Primary Sjögren syndrome/Sjogren syndrome / Primary Sjögren-Gougerot syndrome", "OMIM:270150": "SJOGREN SYNDROME", "OMIM:136000": "ADERMATOGLYPHIA; ADERM", "ORPHA:289483": "Intellectual disability-alacrima-achalasia syndrome/Mental retardation, X-linked, syndromic 17", "OMIM:300858": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 17; MRXS17", "OMIM:269400": "ANTERIOR SEGMENT DYSGENESIS 7; ASGD7", "ORPHA:289504": "Combined malonic and methylmalonic acidemia/Combined malonic and methylmalonic aciduria / CMAMMA", "OMIM:614265": "COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA", "ORPHA:1203": "Duodenal atresia/Duodenal atresia", "OMIM:223400": "DUODENAL ATRESIA", "ORPHA:289522": "Microtriplication 11q24.1 / Microtriplication 11q24.1 syndrome / Tetrasomy 11q24.1", "OMIM:614327": "TUMOR PREDISPOSITION SYNDROME 1; TPDS1", "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 / MPAN / NBIA due to C19orf12 mutation / NBIA4 / Neurodegeneration with brain iron accumulation due to C19orf12 mutation / Neurodegeneration with brain iron accumulation type 4", "OMIM:614298": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4", "ORPHA:289596": "Juvenile nasopharyngeal angiofibroma / JNA", "ORPHA:2896": "Pitt-Hopkins syndrome/Pitt-Hopkins syndrome", "OMIM:610954": "PITT-HOPKINS SYNDROME; PTHS", "ORPHA:289601": "Hereditary arterial and articular multiple calcification syndrome/Calcification of joints and arteries / CALJA", "OMIM:211800": "CALCIFICATION OF JOINTS AND ARTERIES; CALJA", "OMIM:178370": "PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT", "ORPHA:2897": "Pityriasis rubra pilaris/Pityriasis rubra pilaris", "OMIM:173200": "PITYRIASIS RUBRA PILARIS; PRP", "ORPHA:2898": "X-linked intellectual disability-plagiocephaly syndrome / Hyde Forster-McCarthy-Berry syndrome", "OMIM:266130": "GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD", "OMIM:231900": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 6; CNSHA6", "ORPHA:1208": "Pulmonary atresia-intact ventricular septum syndrome/Pulmonary atresia with intact ventricular septum", "OMIM:265150": "PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM", "OMIM:606664": "GLYCINE N-METHYLTRANSFERASE DEFICIENCY", "OMIM:601216": "DENTAL ANOMALIES AND SHORT STATURE; DASS", "ORPHA:289916": "Vitamin B12-unresponsive methylmalonic acidemia type mut0 / Complete deficiency of methylmalonyl-CoA mutase / Vitamin B12-unresponsive methylmalonic aciduria type mut0", "ORPHA:29": "Mevalonic aciduria/Mevalonic aciduria / Complete mevalonate kinase deficiency / MVA", "OMIM:610377": "MEVALONIC ACIDURIA; MEVA", "ORPHA:290": "Congenital rubella syndrome / CRS / Fetal rubella syndrome / Mother-to-child transmission of rubella syndrome", "ORPHA:1209": "Tricuspid atresia", "ORPHA:2900": "Leri pleonosteosis/Chromosome 8q22.1 duplication syndrome", "OMIM:151200": "CHROMOSOME 8q22.1 DUPLICATION SYNDROME", "ORPHA:2901": "Neuralgic amyotrophy / Acute brachial plexus neuritis / Brachial plexus neuritis / Immune brachial plexus neuropathy / Mononeuritis multiplex with brachial predilection / Neuralgic shoulder amyotrophy", "ORPHA:2903": "Familial spontaneous pneumothorax/Pneumothorax, primary spontaneous", "OMIM:173600": "PNEUMOTHORAX, PRIMARY SPONTANEOUS; PSP", "CCRD:91": "POEMS 综合征/POEMS syndrome/POEMS syndrome", "ORPHA:2905": "POEMS 综合征/POEMS syndrome/POEMS syndrome / Crow-Fukase syndrome / Osteosclerotic myeloma / PEP syndrome / Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome / Takatsuki syndrome", "ORPHA:2907": "Hereditary acrokeratotic poikiloderma / Weary syndrome", "ORPHA:29072": "Hereditary pheochromocytoma-paraganglioma / Familial pheochromocytoma-paraganglioma", "ORPHA:29073": "Multiple myeloma/Multiple myeloma / Kahler disease / Medullary plasmacytoma / Myelomatosis / Plasma cell myeloma", "OMIM:254500": "MYELOMA, MULTIPLE", "ORPHA:2908": "Kindler epidermolysis bullosa / Congenital bullous poikiloderma / Kindler syndrome / Poikiloderma of Kindler", "ORPHA:1214": "Progressive hemifacial atrophy/Hemifacial atrophy, progressive / PHA / Parry-Romberg syndrome / Progressive facial hemiatrophy", "OMIM:141300": "HEMIFACIAL ATROPHY, PROGRESSIVE; HFA", "ORPHA:2909": "Rothmund-Thomson syndrome/Rothmund-Thomson syndrome / Poikiloderma of Rothmund-Thomson / RTS", "OMIM:268400": "ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2", "ORPHA:291": "Congenital varicella syndrome / Antenatal varicella virus infection / Mother-to-child transmission of varicella syndrome", "ORPHA:2911": "Poland syndrome/Poland syndrome / Poland anomaly / Poland sequence", "OMIM:173800": "POLAND SYNDROME", "ORPHA:2916": "Postaxial polydactyly-dental and vertebral anomalies syndrome", "ORPHA:2917": "Polydactyly-myopia syndrome/Polydactyly, postaxial, with progressive myopia / Czeizel-Brooser syndrome", "OMIM:174310": "POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA", "ORPHA:1215": "Autosomal dominant optic atrophy plus syndrome / ADOA+ / Optic atrophy-deafness-polyneuropathy-myopathy syndrome / Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome", "ORPHA:2919": "Orofaciodigital syndrome type 5/Orofaciodigital syndrome V / OFD5 / Oral-facial-digital syndrome type 5 / Orofaciodigital syndrome, Thurston type / Polydactyly postaxial with median cleft of upper lip / Thurston syndrome", "OMIM:174300": "OROFACIODIGITAL SYNDROME V; OFD5", "ORPHA:292": "Congenital enterovirus infection / Antenatal enterovirus infection / Mother-to-child transmission of enterovirus infection", "ORPHA:2920": "Oliver syndrome/Oliver syndrome / Postaxial polydactyly-intellectual disability syndrome", "OMIM:258200": "OLIVER SYNDROME", "ORPHA:29207": "Reactive arthritis / Fiessinger-Leroy disease", "ORPHA:2921": "Preaxial polydactyly-colobomata-intellectual disability syndrome / Pfeiffer-Mayer syndrome", "ORPHA:2924": "Isolated polycystic liver disease/Polycystic liver disease 1 with or without kidney cysts / ADPCLD / Autosomal dominant polycystic liver disease", "OMIM:174050": "POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS; PCLD1", "ORPHA:2926": "Digital extensor muscle aplasia-polyneuropathy/Aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy / Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy / Hamanishi-Ueba-Tsuji syndrome / Polyneuropathy-hand defect syndrome", "OMIM:207740": "APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY", "ORPHA:2928": "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome / Lundberg syndrome", "ORPHA:2929": "Juvenile polyposis syndrome/Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome / JIP / JPS / Juvenile gastrointestinal polyposis / Juvenile intestinal polyposis", "OMIM:175050": "JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT", "ORPHA:293": "Congenital herpes simplex virus infection / Antenatal herpes simplex virus infection / Mother-to-child transmission of herpes simplex virus infection", "ORPHA:1216": "Autosomal dominant congenital benign spinal muscular atrophy/Neuronopathy, distal hereditary motor, type VIII / Autosomal dominant benign distal spinal muscular atrophy / Congenital benign spinal muscular atrophy with contractures / Congenital nonprogressive spinal muscular atrophy", "OMIM:600175": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8", "ORPHA:2930": "Cronkhite-Canada syndrome/Polyposis, skin pigmentation, alopecia, and fingernail changes / Gastrointestinal polyposis-ectodermal changes syndrome / Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome", "OMIM:175500": "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 / IAHSP", "OMIM:607225": "SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP", "ORPHA:2932": "Chronic inflammatory demyelinating polyneuropathy / CIDP / Chronic inflammatory demyelinating polyradiculoneuropathy", "ORPHA:293381": "Epithelial recurrent erosion dystrophy/Epithelial recurrent erosion dystrophy / Dystrophia Helsinglandica / Dystrophia Smolandiensis / ERED / Recurrent hereditary corneal erosions", "OMIM:122400": "EPITHELIAL RECURRENT EROSION DYSTROPHY; ERED", "OMIM:263630": "POLYSYNDACTYLY WITH CARDIAC MALFORMATION", "ORPHA:2935": "Crossed polysyndactyly", "ORPHA:293603": "Congenital hereditary endothelial dystrophy type II/Corneal endothelial dystrophy, autosomal recessive / Autosomal recessive CHED / Autosomal recessive congenital hereditary endothelial dystrophy / CHED2 / CHEDII / Congenital hereditary endothelial dystrophy type 2 / Infantile hereditary endothelial dystrophy / Maumenee corneal dystrophy", "OMIM:217700": "CORNEAL ENDOTHELIAL DYSTROPHY; CHED", "ORPHA:293621": "X-linked endothelial corneal dystrophy/Corneal dystrophy, endothelial, X-linked / XECD", "OMIM:300779": "CORNEAL DYSTROPHY, ENDOTHELIAL, X-LINKED; XECD", "ORPHA:122": "Birt-Hogg-Dubé syndrome/Birt-Hogg-Dube syndrome / Hornstein-Knickenberg syndrome", "OMIM:135150": "BIRT-HOGG-DUBE SYNDROME 1; BHD1", "OMIM:614438": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B", "ORPHA:293707": "Blepharophimosis-intellectual disability syndrome, MKB type/Ohdo syndrome, X-linked / BMRS, MKB type / BMRS, Maat-Kievit-Brunner type / Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type / X-linked Ohdo syndrome", "OMIM:300895": "OHDO SYNDROME, X-LINKED; OHDOX", "ORPHA:293725": "Blepharophimosis-intellectual disability syndrome, Verloes type/Blepharophimosis with facial and genital anomalies and mental retardation / BMRS type V / BMRS, Verloes type / Blepharophimosis-intellectual disability syndrome type V", "OMIM:604314": "BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND IMPAIRED INTELLECTUAL DEVELOPMENT", "ORPHA:293807": "Ketamine-induced biliary dilatation", "OMIM:614456": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8", "OMIM:613673": "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVa; CDAN4A", "ORPHA:1221": "Cheilitis glandularis", "ORPHA:293843": "3MC syndrome / Craniofacial-ulnar-renal syndrome / Malpuech-Michels-Mingarelli-Carnevale syndrome", "OMIM:600996": "Arrhythmogenic right ventricular dysplasia, familial, 2", "OMIM:614416": "RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA", "OMIM:614303": "EDICT SYNDROME; EDICT", "ORPHA:293939": "Distal Xq28 microduplication syndrome / Distal dup(X)q(28) / Distal trisomy Xq28 / Int22h1/Int22h2 mediated-Xq28 microduplication syndrome", "ORPHA:293948": "1p21.3 microdeletion syndrome / Del(1)(p21.3) / Monosomy 1p21.3", "OMIM:614458": "THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5", "OMIM:614187": "HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS; HPPD", "ORPHA:293964": "Hypoinsulinemic hypoglycemia and body hemihypertrophy/Hypoinsulinemic hypoglycemia with hemihypertrophy", "OMIM:240900": "HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH", "ORPHA:293967": "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome / Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome", "ORPHA:293978": "Deficiency in anterior pituitary function-variable immunodeficiency syndrome / DAVID syndrome", "ORPHA:293987": "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome / ROHHAD / ROHHADNET / Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome", "ORPHA:294": "Fetal cytomegalovirus syndrome / Antenatal CMV infection / Antenatal cytomegalovirus infection / Mother-to-child transmission of cytomegalovirus syndrome", "ORPHA:2940": "Porencephaly", "OMIM:614261": "MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP", "ORPHA:1225": "Baller-Gerold syndrome/Baller-Gerold syndrome", "OMIM:218600": "BALLER-GEROLD SYNDROME; BGS", "OMIM:601322": "PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS", "ORPHA:2942": "Postpoliomyelitis syndrome / Postpolio sequelae / Postpolio syndrome / Postpoliomyelitic syndrome / Postpoliomyelitis sequelae", "OMIM:190680": "TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY", "ORPHA:1226": "Bamforth-Lazarus syndrome/Hypothyroidism, athyroidal, with spiky hair and cleft palate / Athyroidal hypothyroidism-spiky hair-cleft palate syndrome / Bamforth syndrome / Hypothyroidism-cleft palate syndrome", "OMIM:241850": "BAMFORTH-LAZARUS SYNDROME; BAMLAZ", "ORPHA:1227": "Bangstad syndrome/Bangstad syndrome / Ataxia-diabetes-goiter-gonadal insufficiency syndrome", "OMIM:210740": "BANGSTAD SYNDROME", "ORPHA:1228": "Banki syndrome", "ORPHA:295": "Fetal parvovirus syndrome / Mother-to-child transmission of parvovirus syndrome / Parvovirus antenatal infection", "OMIM:217100": "CONSTRICTING BANDS, CONGENITAL", "ORPHA:1229": "Congenital intrauterine infection-like syndrome/Band-Like calcification with simplified gyration and polymicrogyria / BLC-PMG / Baraitser-Brett-Piesowicz syndrome / Baraitser-Reardon syndrome / Bilateral band-like calcification with polymicrogyria / Microcephaly-intracranial calcification-intellectual disability syndrome / Pseudo-TORCH syndrome", "OMIM:251290": "PSEUDO-TORCH SYNDROME 1; PTORCH1", "OMIM:114200": "CAMPTODACTYLY 1; CAMPD1", "ORPHA:123": "Björnstad syndrome/Bjornstad syndrome / Deafness-pili torti-hypogonadism syndrome / Hearing loss-pili torti-hypogonadism syndrome", "OMIM:262000": "BJORNSTAD SYNDROME; BJS", "ORPHA:295036": "Congenital patella dislocation", "OMIM:274190": "THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY", "ORPHA:1231": "Barber-Say syndrome/Barber-Say syndrome / Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome", "OMIM:209885": "BARBER-SAY SYNDROME; BBRSAY", "OMIM:186000": "SYNPOLYDACTYLY 1; SPD1", "OMIM:608180": "SYNPOLYDACTYLY 2; SPD2", "OMIM:201550": "ADDUCTED THUMBS SYNDROME", "ORPHA:1234": "Bartsocas-Papas syndrome/Popliteal pterygium syndrome, Bartsocas-Papas type 1 / Autosomal recessive popliteal pterygium syndrome / Lethal popliteal pterygium syndrome", "OMIM:263650": "BARTSOCAS-PAPAS SYNDROME 1; BPS1", "ORPHA:1236": "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "ORPHA:2953": "Musculocontractural Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, musculocontractural type 1 / Adducted thumb-clubfoot syndrome / Distal arthrogryposis with peculiar facies and hydronephrosis / Dündar syndrome / Ehlers-Danlos syndrome, Kosho type / Musculocontractural EDS / mcEDS", "OMIM:601776": "EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1", "ORPHA:2956": "Acrodysplasia scoliosis / Brachydactyly-scoliosis-carpal fusion syndrome / Prata-Liberal-Goncalves syndrome", "OMIM:176305": "PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS", "ORPHA:2958": "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome/Prieto syndrome / Prieto-Badia-Mulas syndrome", "OMIM:309610": "PRIETO SYNDROME; PRS", "ORPHA:2959": "Progeria-short stature-pigmented nevi syndrome/Progeroid short stature with pigmented nevi / Mulvihill-Smith syndrome", "OMIM:176690": "MULVIHILL-SMITH SYNDROME", "ORPHA:296": "Ollier disease/Enchondromatosis, multiple / Enchondromatosis Spranger type I / Multiple Enchondromatosis type I / Multiple Enchondromatosis, Ollier type", "OMIM:166000": "ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE", "ORPHA:2962": "De Barsy syndrome / Cutis laxa-corneal clouding-intellectual disability syndrome / Progeroid syndrome, De Barsy type", "ORPHA:2964": "Autosomal dominant prognathism/Prognathism, mandibular", "OMIM:176700": "PROGNATHISM, MANDIBULAR", "ORPHA:2965": "Prolactinoma / Lactotroph adenoma / PRL-secreting pituitary adenoma / PRLoma / Pituitary lactotrophic adenoma / Prolactin-secreting pituitary adenoma", "ORPHA:1237": "Beemer-Ertbruggen syndrome/Beemer lethal malformation syndrome / Lethal hydrocephalus-cardiac malformation-dense bones syndrome", "OMIM:209970": "BEEMER LETHAL MALFORMATION SYNDROME", "OMIM:312060": "PROPERDIN DEFICIENCY, X-LINKED; CFPD", "OMIM:193090": "TRANSCOBALAMIN I DEFICIENCY; TCN1D", "ORPHA:2969": "Proteus-like syndrome", "ORPHA:2970": "Prune belly syndrome/Prune belly syndrome / Abdominal muscle deficiency syndrome / Eagle-Barret syndrome / Obrinsky syndrome / Triad syndrome", "OMIM:100100": "PRUNE BELLY SYNDROME; PBS", "ORPHA:2971": "Peroxisomal acyl-CoA oxidase deficiency/Peroxisomal acyl-CoA oxidase deficiency / Pseudo-NALD / Pseudo-neonatal adrenoleukodystrophy / Pseudoadrenoleukodystrophy", "OMIM:264470": "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 / Stoelinga-de Koomen-Davis syndrome", "OMIM:273050": "TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM", "ORPHA:2973": "46,XX disorder of sex development-anorectal anomalies syndrome / 46,XX difference of sex development-anorectal anomalies syndrome", "ORPHA:2975": "46,XX disorder of sex development-skeletal anomalies syndrome/Pseudohermaphroditism, female, with skeletal anomalies / 46,XX difference of sex development-skeletal anomalies syndrome", "OMIM:264270": "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 / Congenital PRCA / Congenital pure red cell aplasia / Diamond-Blackfan anemia syndrome", "OMIM:105650": "DIAMOND-BLACKFAN ANEMIA 1; DBA1", "ORPHA:2976": "Pseudoleprechaunism syndrome, Patterson type / Patterson pseudoleprechaunism syndrome / Patterson syndrome", "ORPHA:2978": "Chronic intestinal pseudoobstruction / CIPO", "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 / Pseudopapilledema-blepharophimosis-hand anomalies syndrome", "ORPHA:29822": "Spontaneous periodic hypothermia / Episodic spontaneous hypothermia / Shapiro syndrome", "ORPHA:2983": "Disorder of sex development-intellectual disability syndrome / Difference of sex development-intellectual disability syndrome / Verloes-Gillerot-Fryns syndrome", "ORPHA:2985": "Pseudoprogeria syndrome/Absent eyebrows and eyelashes with mental retardation / Absent eyebrows and eyelashes-intellectual disability syndrome / Hal-Berg-Rudolph syndrome", "OMIM:200130": "ABSENT EYEBROWS AND EYELASHES WITH IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:178200": "PTERYGIUM, ANTECUBITAL", "ORPHA:1240": "Metaphyseal acroscyphodysplasia / Bellini syndrome / Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome", "ORPHA:2988": "Pterygium colli-intellectual disability-digital anomalies syndrome / Khalifa-Graham syndrome", "ORPHA:2990": "Autosomal recessive multiple pterygium syndrome/Escobar syndrome / Autosomal recessive non-lethal multiple pterygium syndrome / EVMPS / Escobar variant multiple pterygium syndrome", "OMIM:265000": "MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS", "ORPHA:2994": "Short stature-craniofacial anomalies-genital hypoplasia syndrome/Pterygia, mental retardation, and distinctive craniofacial features / Haspeslagh-Fryns-Muelenaere syndrome", "OMIM:177980": "PTERYGIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DISTINCTIVE CRANIOFACIAL FEATURES", "ORPHA:2995": "Baraitser-Winter cerebrofrontofacial syndrome", "ORPHA:2997": "Ptosis-vocal cord paralysis syndrome/Vocal cord paralysis and ptosis / Tucker syndrome", "OMIM:193240": "VOCAL CORD PARALYSIS AND PTOSIS", "OMIM:178330": "PTOSIS, STRABISMUS, AND ECTOPIC PUPILS", "ORPHA:30": "Hereditary orotic aciduria/Orotic aciduria / Orotidylic decarboxylase deficiency / Uridine monophosphate synthetase deficiency", "OMIM:258900": "OROTIC ACIDURIA", "OMIM:261515": "D-BIFUNCTIONAL PROTEIN DEFICIENCY", "ORPHA:3000": "Familial male-limited precocious puberty/Precocious puberty, male / Familial peripheral male-limited precocious puberty / FMPP / Familial gonadotropin-independent male-limited sexual precocity / Male-limited precocious puberty / Testotoxicosis", "OMIM:176410": "PRECOCIOUS PUBERTY, MALE-LIMITED", "ORPHA:300179": "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency/Ehlers-Danlos syndrome, kyphoscoliotic type, 2 / Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness / Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss / FKBP14-related EDS / FKBP22-deficient EDS / Kyphoscoliotic EDS due to FKBP22 deficiency / kEDS-FKBP14", "OMIM:614557": "EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2", "ORPHA:1241": "Bencze syndrome/Hemifacial hyperplasia with strabismus / Hemifacial hyperplasia-strabismus syndrome", "OMIM:141350": "HEMIFACIAL HYPERPLASIA WITH STRABISMUS", "ORPHA:3002": "Immune thrombocytopenia/Thrombocytopenic purpura, autoimmune / ITP / Immune thrombocytopenic purpura", "OMIM:188030": "IMMUNE THROMBOCYTOPENIA; ITP", "OMIM:612394": "BCARD SYNDROME; BCARD", "OMIM:614480": "HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI", "ORPHA:300298": "Severe congenital hypochromic anemia with ringed sideroblasts/Anemia, hypochromic microcytic, with iron overload 2 / Severe congenital hypochromic sideroblastic anemia", "OMIM:615234": "ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2; AHMIO2", "ORPHA:3003": "Pyknoachondrogenesis/PYKNOACHONDROGENESIS / Camera syndrome", "OMIM:265880": "PYKNOACHONDROGENESIS", "ORPHA:300305": "11p15.4 microduplication syndrome / Dup(11)p(15.4) / Trisomy 11p15.4", "OMIM:614482": "HUPPKE-BRENDEL SYNDROME; HPBDS", "OMIM:614436": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P", "OMIM:606445": "PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; PPBL", "OMIM:609057": "EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS; EBS7", "ORPHA:1243": "Best vitelliform macular dystrophy/Macular dystrophy, vitelliform, 2 / BVMD / Best disease / Best macular dystrophy / Early-onset vitelliform macular dystrophy / Juvenile-onset vitelliform macular dystrophy / Polymorphic vitelline macular degeneration / Vitelliform macular dystrophy type 2", "OMIM:153700": "MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2", "OMIM:614420": "SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16", "OMIM:614468": "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3", "ORPHA:300373": "X-linked acrogigantism / Familial infantile gigantism / Hereditary infantile gigantism / Hereditary pituitary hyperplasia / Infantile gigantism due to pituitary hyperplasia / X-LAG", "OMIM:616914": "MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME; MFLS", "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; MCAHS2", "OMIM:265900": "PYLE DISEASE; PYL", "OMIM:113400": "BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA", "OMIM:614495": "PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D", "OMIM:614496": "PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E", "ORPHA:300536": "DDOST-CDG/Congenital disorder of glycosylation, type IR / CDG syndrome type Ir / CDG-Ir / CDG1R / Carbohydrate deficient glycoprotein syndrome type Ir / Congenital disorder of glycosylation type 1r / Congenital disorder of glycosylation type Ir", "OMIM:614507": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R", "OMIM:143880": "HYPERCALCEMIA, INFANTILE, 1; HCINF1", "ORPHA:300570": "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation/Cortical dysplasia, complex, with other brain malformations 1", "OMIM:614039": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1", "ORPHA:300573": "Polymicrogyria due to TUBB2B mutation", "OMIM:608615": "OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS", "ORPHA:3006": "Pyridoxine-dependent epilepsy/Epilepsy, pyridoxine-dependent, Epilepsy, early-onset, vitamin b6-dependent / Antiquitin deficiency / Vitamin B6-dependent seizures", "OMIM:266100": "EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4", "OMIM:617290": "EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT; EPEO1", "ORPHA:300605": "Juvenile amyotrophic lateral sclerosis / JALS / Juvenile Charcot disease / Juvenile Lou Gehrig disease", "ORPHA:300751": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation/Cardiomyopathy, dilated, 1A", "OMIM:115200": "CARDIOMYOPATHY, DILATED, 1A; CMD1A", "ORPHA:1248": "Maxillonasal dysplasia/Maxillonasal dysplasia, Binder type / Binder syndrome / Maxillonasal dysostosis", "OMIM:155050": "MAXILLONASAL DYSPLASIA, BINDER TYPE", "ORPHA:3008": "Pyruvate carboxylase deficiency/Pyruvate carboxylase deficiency / Ataxia with lactic acidosis type 2 / Ataxia with lactic acidosis type II / Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency / Leigh syndrome due to PC deficiency / Leigh syndrome due to pyruvate carboxylase deficiency", "OMIM:266150": "PYRUVATE CARBOXYLASE DEFICIENCY", "ORPHA:125": "Bloom syndrome/Bloom syndrome / BSyn", "OMIM:210900": "BLOOM SYNDROME; BLM", "ORPHA:3010": "Qazi-Markouizos syndrome / Dysharmonic skeletal maturation-muscular fiber disproportion syndrome", "ORPHA:3011": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome/Spastic quadriplegia, retinitis pigmentosa, and mental retardation / Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome", "OMIM:270950": "SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "ORPHA:3015": "Radio-renal syndrome/Radial-Renal syndrome", "OMIM:179280": "RADIAL-RENAL SYNDROME", "ORPHA:3016": "Absent radius-anogenital anomalies syndrome/Radial aplasia, X-linked", "OMIM:312190": "RADIAL APLASIA, X-LINKED", "OMIM:277175": "VASCULAR HYALINOSIS", "ORPHA:3019": "Ramon syndrome/Ramon syndrome / Cherubism-gingival fibromatosis-intellectual disability syndrome", "OMIM:266270": "RAMON SYNDROME", "ORPHA:1252": "Blepharonasofacial malformation syndrome/Blepharonasofacial malformation syndrome / Pashayan syndrome / Pashayan-Pruzansky syndrome", "OMIM:110050": "BLEPHARONASOFACIAL MALFORMATION SYNDROME", "ORPHA:302": "Epidermodysplasia verruciformis/Epidermodysplasia verruciformis, susceptibility to, 1, Epidermodysplasia verruciformis 2 / Inherited epidermodysplasia verruciformis / Lewandowsky-Lutz syndrome / Lutz-Lewandowsky epidermodysplasia verruciformis", "OMIM:226400": "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1; EV1", "OMIM:618231": "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2", "OMIM:266280": "RAPADILINO SYNDROME", "ORPHA:3023": "External auditory canal atresia-vertical talus-hypertelorism syndrome/External auditory canal, bilateral atresia of, with congenital verticaltalus / Rasmussen-Johnsen-Thomsen syndrome", "OMIM:133705": "EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS", "OMIM:179270": "RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA", "ORPHA:3027": "Caudal regression syndrome / Caudal dysgenesis syndrome / Caudal dysplasia / Caudal regression sequence", "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 / Goldston syndrome / Meckel syndrome type 7 / Meckel-like syndrome type 1 / Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome", "OMIM:267010": "MECKEL SYNDROME, TYPE 7; MKS7", "ORPHA:3033": "Renal tubular dysgenesis / Primitive renal tubule syndrome / Renotubular dysgenesis", "ORPHA:3034": "Delayed membranous cranial ossification/Membranous cranial ossification, delayed / Gonzales-del Angel syndrome", "OMIM:155980": "MEMBRANOUS CRANIAL OSSIFICATION, DELAYED", "ORPHA:1253": "Ascher syndrome/Blepharochalasis and double lip / Blepharochalasis-double lip syndrome", "OMIM:109900": "BLEPHAROCHALASIS AND DOUBLE LIP", "ORPHA:3035": "Growth delay-hydrocephaly-lung hypoplasia syndrome / Game-Friedman-Paradice syndrome", "ORPHA:3038": "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome/Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease / Mehes syndrome", "OMIM:182875": "SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE", "ORPHA:30391": "Isolated biliary atresia/Biliary atresia, extrahepatic / Isolated atresia of bile ducts / Non-syndromic biliary atresia", "OMIM:210500": "BILIARY ATRESIA, EXTRAHEPATIC; EHBA", "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 / Scholte-Begeer-van Essen syndrome", "OMIM:300977": "SCHOLTE SYNDROME; SHLTS", "ORPHA:3042": "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome/Primrose syndrome", "OMIM:259050": "PRIMROSE SYNDROME; PRIMS", "ORPHA:3044": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome/Mental retardation syndrome, Belgian type", "OMIM:249599": "INTELLECTUAL DEVELOPMENTAL DISORDER, BELGIAN TYPE", "ORPHA:3047": "Blepharophimosis-intellectual disability syndrome, SBBYS type/Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant / Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome / SBBYS variant of Ohdo syndrome / SBBYSS / Say-Barber-Biesecker-Young-Simpson syndrome", "OMIM:603736": "OHDO SYNDROME, SBBYS VARIANT; SBBYSS", "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, AND ECTOPIA LENTIS", "ORPHA:3051": "Nicolaides-Baraitser syndrome/Nicolaides-Baraitser syndrome / Intellectual disability-sparse hair-brachydactyly syndrome", "OMIM:601358": "NICOLAIDES-BARAITSER SYNDROME; NCBRS", "ORPHA:3052": "X-linked intellectual disability-seizures-psoriasis syndrome/Mental retardation associated with psoriasis / Tranebjaerg-Svejgaard syndrome", "OMIM:309480": "IMPAIRED INTELLECTUAL DEVELOPMENT AND PSORIASIS", "ORPHA:3055": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome / Young-Hughes syndrome", "ORPHA:3057": "Monoamine oxidase A deficiency/Brunner syndrome", "OMIM:300615": "BRUNNER SYNDROME; BRNRS", "ORPHA:306": "Benign familial infantile epilepsy/Seizures, benign familial infantile, 1 / Self-limited infantile epilepsy / BFIE / BFIS / Benign familial infantile convulsions / Benign familial infantile seizures / SeLIE", "OMIM:601764": "SEIZURES, BENIGN FAMILIAL INFANTILE, 1; BFIS1", "ORPHA:3063": "X-linked intellectual disability, Snyder type/Mental retardation, X-linked, syndromic, Snyder-Robinson type / Snyder-Robinson syndrome", "OMIM:309583": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR", "ORPHA:126": "Blepharophimosis-ptosis-epicanthus inversus syndrome/Blepharophimosis, epicanthus inversus, and ptosis / BPES", "OMIM:110100": "BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES", "ORPHA:306498": "PTEN hamartoma tumor syndrome / PHTS", "OMIM:614748": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME; JEB7", "OMIM:614199": "NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5", "ORPHA:306511": "Autosomal recessive spastic paraplegia type 48/Spastic paraplegia 48, autosomal recessive / SPG48", "OMIM:613647": "SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48", "ORPHA:1261": "Bonnemann-Meinecke-Reich syndrome / Encephalopathy-intracerebral calcification-retinal degeneration syndrome", "OMIM:601471": "FACIAL PARESIS, HEREDITARY CONGENITAL, 1; HCFP1", "ORPHA:306542": "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome/Frontonasal dysplasia 3 / ALX1-related frontonasal dysplasia / Frontonasal dysplasia type 3", "OMIM:613456": "FRONTONASAL DYSPLASIA 3; FND3", "OMIM:613730": "HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS; HDBSCC", "ORPHA:306550": "FADD-related immunodeficiency/Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations", "OMIM:613759": "IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION; IMD90", "OMIM:614231": "MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1; MEDS1", "OMIM:300000": "OPITZ GBBB SYNDROME; GBBB", "ORPHA:1262": "Böök syndrome/Book syndrome", "OMIM:112300": "BOOK SYNDROME", "OMIM:610455": "TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC", "OMIM:211900": "TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1", "ORPHA:306669": "Hemiparkinsonism-hemiatrophy syndrome / HP-HA syndrome", "ORPHA:306674": "Kufor-Rakeb syndrome/Kufor-Rakeb syndrome / PARK9", "OMIM:606693": "KUFOR-RAKEB SYNDROME; KRS", "ORPHA:1263": "Boomerang dysplasia/Boomerang dysplasia", "OMIM:112310": "BOOMERANG DYSPLASIA; BOOMD", "ORPHA:306682": "Manganese poisoning / Manganese intoxication / Manganism", "ORPHA:306686": "Delayed encephalopathy due to carbon monoxide poisoning / Delayed encephalopathy due to CO poisoning", "ORPHA:306692": "Cyanide-induced parkinsonism-dystonia", "ORPHA:1264": "Tricho-retino-dento-digital syndrome / Bork syndrome / Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome", "ORPHA:306731": "Sydenham chorea", "ORPHA:306734": "Primary dystonia, DYT21 type/Dystonia 21", "OMIM:614588": "DYSTONIA 21; DYT21", "ORPHA:306741": "Hemidystonia-hemiatrophy syndrome / HD-HA syndrome", "ORPHA:1267": "Botulism", "ORPHA:3068": "Intellectual disability-myopathy-short stature-endocrine defect syndrome / Chudley-Rozdilsky syndrome", "ORPHA:307": "Juvenile myoclonic epilepsy/Myoclonic epilepsy, juvenile, susceptibility to, 1 / JME / Juvenile myoclonus epilepsy", "OMIM:254770": "EPILEPSY, MYOCLONIC JUVENILE; EJM", "ORPHA:127": "Borjeson-Forssman-Lehmann syndrome/Borjeson-Forssman-Lehmann syndrome / BFLS / Intellectual disability-epilepsy-endocrine disorders syndrome", "OMIM:301900": "BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS", "ORPHA:3071": "Costello syndrome/Costello syndrome / FCS syndrome / Faciocutaneoskeletal syndrome", "OMIM:218040": "COSTELLO SYNDROME; CSTLO", "ORPHA:3074": "Intellectual disability-short stature-hypertelorism syndrome / Stoll-Géraudel-Chauvin syndrome", "ORPHA:3077": "X-linked intellectual disability-psychosis-macroorchidism syndrome/Mental retardation, X-linked, syndromic 13 / Lindsay-Burn syndrome / PPM-X", "OMIM:300055": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13", "ORPHA:3078": "Severe X-linked intellectual disability, Gustavson type/Mental retardation with optic atrophy, deafness, and seizures", "OMIM:309555": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, GUSTAVSON TYPE; MRXSG", "ORPHA:1270": "Bowen-Conradi syndrome/Bowen-Conradi syndrome / Bowen syndrome, Hutterite type", "OMIM:211180": "BOWEN-CONRADI SYNDROME; BWCNS", "ORPHA:3079": "Intellectual disability, Buenos-Aires type / Mutchinick syndrome", "ORPHA:308": "Progressive myoclonic epilepsy type 1/Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) / EPM1 / Progressive myoclonus epilepsy type 1 / ULD / Unverricht-Lundborg disease", "OMIM:254800": "MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG", "ORPHA:3080": "Intellectual disability, Wolff type/Intellectual disability, Wolff type / Wolff-Zimmermann syndrome", "OMIM:277990": "WOLFF SYNDROME", "ORPHA:1272": "Aymé-Gripp syndrome / Brachycephaly-deafness-cataract-intellectual disability syndrome / Brachycephaly-hearing loss-cataract-intellectual disability syndrome / Fine-Lubinsky syndrome", "ORPHA:3082": "Intellectual disability-polydactyly-uncombable hair syndrome / Kozlowski-Krajewska syndrome", "OMIM:252150": "MOLYBDENUM COFACTOR DEFICIENCY, TYPE A; MOCODA", "OMIM:252160": "MOLYBDENUM COFACTOR DEFICIENCY, TYPE B; MOCODB", "OMIM:615501": "MOLYBDENUM COFACTOR DEFICIENCY, TYPE C; MOCODC", "ORPHA:1275": "Brachydactyly-elbow wrist dysplasia syndrome/Synostosis, carpal, with dysplastic elbow joints and brachydactyly / Brachydactyly-joint dysplasia syndrome / Liebenberg syndrome", "OMIM:186550": "LIEBENBERG SYNDROME; LBNBG", "OMIM:614923": "BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD", "OMIM:251120": "METHYLMALONYL-CoA EPIMERASE DEFICIENCY", "ORPHA:1276": "Brachydactyly-arterial hypertension syndrome/Hypertension and brachydactyly syndrome / Bilginturan brachydactyly / Bilginturan syndrome / Brachydactyly type E, with short stature and hypertension", "OMIM:112410": "HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB", "ORPHA:3085": "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome/Retinitis pigmentosa, deafness, mental retardation, and hypogonadism / Edwards-Sethi syndrome / Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome / Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome", "OMIM:268020": "RETINITIS PIGMENTOSA, DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADISM", "OMIM:193220": "VITREORETINOCHOROIDOPATHY; VRCP", "ORPHA:100069": "Semantic dementia / Semantic primary progressive aphasia / Semantic variant PPA", "ORPHA:1277": "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome / Stratton-Garcia-Young syndrome", "OMIM:268130": "REVESZ SYNDROME", "OMIM:238600": "HYPERLIPOPROTEINEMIA, TYPE I", "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, WITH HALLUX VARUS AND THUMB ABDUCTION", "ORPHA:309031": "Pancreatic triacylglycerol lipase deficiency/Pancreatic lipase deficiency / Pancreatic triglyceride lipase deficiency", "OMIM:614338": "PANCREATIC LIPASE DEFICIENCY; PNLIPD", "ORPHA:309108": "Pancreatic colipase deficiency", "OMIM:237400": "HYPER-BETA-ALANINEMIA", "ORPHA:129": "Pseudopelade of Brocq", "OMIM:602014": "HYPOMAGNESEMIA 1, INTESTINAL; HOMG1", "ORPHA:309246": "GM2 gangliosidosis, AB variant/GM2-gangliosidosis, AB variant / Hexosaminidase activator deficiency", "OMIM:272750": "GM2-GANGLIOSIDOSIS, AB VARIANT", "ORPHA:30925": "Hereditary central diabetes insipidus/Diabetes insipidus, Neurohypophyseal type / Hereditary arginine vasopressin deficiency / Hereditary CDI / Hereditary neurogenic diabetes insipidus", "OMIM:125700": "DIABETES INSIPIDUS, NEUROHYPOPHYSEAL", "OMIM:610539": "GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY; GDSAPC", "ORPHA:309256": "Metachromatic leukodystrophy, late infantile form / Arylsulfatase A deficiency, late infantile form / MLD, late infantile form", "ORPHA:309263": "Metachromatic leukodystrophy, juvenile form / Arylsulfatase A deficiency, juvenile form / MLD, juvenile form", "ORPHA:309271": "Metachromatic leukodystrophy, adult form / Arylsulfatase A deficiency, adult form / MLD, adult form", "ORPHA:1292": "Brachymorphism-onychodysplasia-dysphalangism syndrome/Brachymorphism-Onychodysplasia-Dysphalangism syndrome / BOD syndrome / Senior syndrome", "OMIM:113477": "BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME", "OMIM:253000": "MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A", "ORPHA:3093": "Congenital aortic valve stenosis", "OMIM:253010": "MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B", "OMIM:269920": "INFANTILE SIALIC ACID STORAGE DISEASE; ISSD", "OMIM:604369": "SALLA DISEASE; SD", "ORPHA:3095": "Atypical Rett syndrome / Atypical RTT / Rett syndrome variant", "ORPHA:1295": "Brachytelephalangy-dysmorphism-Kallmann syndrome", "ORPHA:3097": "Meacham syndrome/Meacham syndrome / Meacham-Winn-Culler syndrome / Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome", "OMIM:608978": "MEACHAM SYNDROME", "OMIM:215100": "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1", "OMIM:222765": "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2", "ORPHA:3098": "Rhizomelic syndrome, Urbach type/Rhizomelic syndrome", "OMIM:268250": "RHIZOMELIC SYNDROME", "ORPHA:1296": "Lambert syndrome/Lambert syndrome / Branchial dysplasia-intellectual disability-inguinal hernia syndrome", "OMIM:245550": "LAMBERT SYNDROME", "OMIM:600121": "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3", "ORPHA:1297": "Branchio-oculo-facial syndrome/Branchiooculofacial syndrome / BOFS", "OMIM:113620": "BRANCHIOOCULOFACIAL SYNDROME; BOFS", "ORPHA:309854": "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome/Hypermanganesemia with dystonia 1", "OMIM:613280": "HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1", "ORPHA:3099": "Rheumatic fever / Acute rheumatic fever", "ORPHA:31": "Oxoglutaric aciduria/Alpha-Ketoglutarate dehydrogenase deficiency / Alpha-ketoglutarate dehydrogenase deficiency", "OMIM:203740": "OXOGLUTARATE DEHYDROGENASE DEFICIENCY; OGDHD", "ORPHA:1299": "Branchioskeletogenital syndrome/Elsahy-Waters syndrome / BSG syndrome", "OMIM:211380": "ELSAHY-WATERS SYNDROME; ESWS", "ORPHA:3101": "Richieri Costa-da Silva syndrome/Myotonia with skeletal abnormalities and mental retardation / Myotonia-intellectual disability-skeletal anomalies syndrome", "OMIM:255710": "MYOTONIA WITH SKELETAL ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:268305": "ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES", "ORPHA:3103": "Roberts syndrome/Roberts-SC phocomelia syndrome / Pseudothalidomide syndrome / SC pseudothalidomide syndrome", "OMIM:268300": "ROBERTS-SC PHOCOMELIA SYNDROME; RBS", "ORPHA:3104": "Robin sequence-oligodactyly syndrome/Pierre Robin syndrome and oligodactyly / Pierre Robin sequence-oligodactyly syndrome", "OMIM:172880": "PIERRE ROBIN SYNDROME AND OLIGODACTYLY", "OMIM:248250": "HYPOMAGNESEMIA 3, RENAL; HOMG3", "ORPHA:3107": "Autosomal dominant Robinow syndrome/Robinow syndrome, autosomal dominant 1", "OMIM:180700": "ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1", "ORPHA:3109": "Mayer-Rokitansky-Küster-Hauser syndrome / MRKH syndrome / Rokitansky syndrome", "OMIM:180730": "ROMBO SYNDROME", "ORPHA:3111": "Rotor syndrome/Hyperbilirubinemia, Rotor type, digenic", "OMIM:237450": "HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR", "ORPHA:31112": "Dermatofibrosarcoma protuberans / DFSP", "ORPHA:100070": "Progressive non-fluent aphasia / Agramatic variant of PPA / Agramatic variant of primary progressive aphasia / Non-fluent variant PPA", "ORPHA:13": "6-pyruvoyl-tetrahydropterin synthase deficiency/Hyperphenylalaninemia, BH4-deficient, A / Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency", "OMIM:261640": "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A", "ORPHA:31142": "Oral erosive lichen / NON RARE IN EUROPE: Oral erosive lichen", "ORPHA:3115": "Roussy-Lévy syndrome/Roussy-Levy hereditary areflexic dystasia / Hereditary areflexic dystasia, Roussy-Lévy type", "OMIM:180800": "ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA", "ORPHA:31150": "Tangier disease/Tangier disease / ATP-binding cassette transporter A1 deficiency / Analphalipoproteinemia", "OMIM:205400": "TANGIER DISEASE; TGD", "ORPHA:312": "Autosomal dominant epidermolytic ichthyosis/Epidermolytic hyperkeratosis / BCIE / Bullous congenital ichthyosiform erythroderma / Bullous congenital ichthyosiform erythroderma of Brock / Bullous ichthyosis / EHK / EI / Ichthyosis hystrix Brocq type", "OMIM:113800": "EPIDERMOLYTIC HYPERKERATOSIS 1; EHK1", "ORPHA:3121": "Ruvalcaba syndrome/Ruvalcaba syndrome", "OMIM:180870": "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 / Idiopathic ventricular fibrillation, Brugada type", "OMIM:601144": "BRUGADA SYNDROME 1; BRGDA1", "ORPHA:3124": "Saccharopinuria/SACCHAROPINURIA / Hyperlysinemia type II / Saccharopine dehydrogenase deficiency", "OMIM:268700": "SACCHAROPINURIA", "ORPHA:3129": "Sarcosinemia/SARCOSINEMIA / Sarcosine dehydrogenase complex deficiency", "OMIM:268900": "SARCOSINEMIA; SARCOS", "ORPHA:313": "Lamellar ichthyosis / LI", "ORPHA:3130": "Satoyoshi syndrome/Satoyoshi syndrome / Komuragaeri disease", "OMIM:600705": "SATOYOSHI SYNDROME", "ORPHA:3132": "Say-Barber-Miller syndrome/Microcephaly with chemotactic defect and transient hypogammaglobulinemia / Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome", "OMIM:251240": "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", "OMIM:181440": "SCHEUERMANN DISEASE", "ORPHA:3137": "Alpha-N-acetylgalactosaminidase deficiency / NAGA deficiency / Schindler disease", "ORPHA:313772": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome/Spastic ataxia 5, autosomal recessive / AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome / Autosomal recessive spastic ataxia type 5 / SPAX5", "OMIM:614487": "SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5", "ORPHA:1300": "Autosomal dominant popliteal pterygium syndrome/Popliteal pterygium syndrome / Facio-genito-popliteal syndrome / Popliteal web syndrome", "OMIM:119500": "POPLITEAL PTERYGIUM SYNDROME; PPS", "ORPHA:313781": "20p13 microdeletion syndrome / 20p subtelomeric deletion syndrome / Del(20)(p13) / Monosomy 20p13", "OMIM:251255": "JAWAD SYNDROME; JWDS", "ORPHA:3138": "Ulnar-mammary syndrome/Ulnar-Mammary syndrome / Pallister ulnar-mammary syndrome / Schinzel syndrome / UMS", "OMIM:181450": "ULNAR-MAMMARY SYNDROME; UMS", "OMIM:614979": "RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME; ROSAH", "OMIM:221820": "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1; HDLS1", "OMIM:612199": "CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1", "OMIM:614564": "CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL; FCTCS", "OMIM:614559": "INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD", "ORPHA:313855": "FGFR2-related bent bone dysplasia/Bent bone dysplasia syndrome / Perinatal lethal bent bone dysplasia", "OMIM:614592": "BENT BONE DYSPLASIA SYNDROME 1; BBDS1", "ORPHA:313892": "Developmental and speech delay due to SOX5 deficiency", "ORPHA:313906": "Congenital pancreatic cyst / Neonatal congenital pancreatic cyst / True congenital pancreatic cyst", "ORPHA:313947": "2q23.1 microduplication syndrome / Dup(2)(q23.1) / Trisomy 2q23.1", "ORPHA:314": "Erythroderma desquamativum / Leiner disease", "ORPHA:314034": "7p22.1 microduplication syndrome / Dup(7)(p22.1) / Trisomy 7p22.1", "OMIM:614924": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12", "ORPHA:3143": "Autoimmune polyendocrinopathy type 2/Autoimmune polyendocrine syndrome, type II / APS type 2 / APS2 / Autoimmune polyendocrine syndrome type 2 / Autoimmune polyglandular syndrome type 2 / Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome / Schmidt syndrome", "OMIM:269200": "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2", "OMIM:614616": "DIARRHEA 6; DIAR6", "OMIM:614665": "MECONIUM ILEUS", "OMIM:614653": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6", "ORPHA:314389": "Xq12-q13.3 duplication syndrome / Dup(X)(q12-q13.3) / Kaya-Prontera syndrome", "OMIM:614813": "SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS; SOFT", "OMIM:614675": "BONE MARROW FAILURE SYNDROME 1; BMFS1", "ORPHA:3144": "Schneckenbecken dysplasia/Schneckenbecken dysplasia / Chondrodysplasia with snail-like pelvis / SLC35D1-CDG", "OMIM:269250": "SCHNECKENBECKEN DYSPLASIA; SHNKND", "ORPHA:314404": "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome/Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant / ADCA-DN syndrome / Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome", "OMIM:604121": "CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN", "ORPHA:314473": "Ovarian fibroma", "ORPHA:1305": "Feingold syndrome / Brunner-Winter syndrome / Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum / FGLDS / FS / MMT / MODED syndrome / Microcephaly-digital anomalies-normal intelligence syndrome / Microcephaly-intellectual disability-tracheoesophageal fistula syndrome / Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome / Oculo-digito-esophageal-duodenal syndrome", "ORPHA:314478": "Ovarian fibrothecoma", "OMIM:614881": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5; HMNR5", "ORPHA:3145": "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome/Nephrogenic diabetes insipidus - intracranial calcification / Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome", "OMIM:221995": "DIABETES INSIPIDUS, NEPHROGENIC, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND INTRACEREBRAL CALCIFICATION", "OMIM:611174": "HAMAMY SYNDROME; HMMS", "ORPHA:314575": "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome", "ORPHA:314585": "15q overgrowth syndrome", "OMIM:604213": "CHUDLEY-MCCULLOUGH SYNDROME; CMCS", "ORPHA:1306": "Buschke-Ollendorff syndrome/Buschke-Ollendorff syndrome / NON RARE IN EUROPE: Buschke-Ollendorff syndrome / NON RARE IN EUROPE: Disseminated dermatofibrosis with osteopoikilosis", "OMIM:166700": "BUSCHKE-OLLENDORFF SYNDROME; BOS", "ORPHA:314603": "Autosomal recessive spastic ataxia with leukoencephalopathy/Spastic ataxia 3, autosomal recessive / ARSAL / Autosomal recessive spastic ataxia type 3 / SPAX3", "OMIM:611390": "SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3", "ORPHA:314621": "Duplication of the pituitary gland / DPG-plus syndrome / Duplication of the pituitary gland-plus syndrome / Hypophyseal duplication", "OMIM:614706": "CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11", "ORPHA:314632": "ATP13A2-related juvenile neuronal ceroid lipofuscinosis / CLN12 disease / Juvenile parkinsonism-neuronal ceroid lipofuscinosis / Neuronal ceroid lipofuscinosis type 12", "OMIM:614702": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10", "ORPHA:314647": "Non-progressive cerebellar ataxia with intellectual disability/Cerebellar dysfunction with variable cognitive and behavioral abnormalities", "OMIM:614756": "CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES; CECBA", "ORPHA:314652": "Variant ABeta2M amyloidosis / Autosomal dominant beta2-microglobulinic amyloidosis", "ORPHA:1307": "Distal limb deficiencies-micrognathia syndrome/Split-Hand/foot malformation 3 / 10q24 microduplication syndrome / Buttiens-Fryns syndrome", "OMIM:246560": "SPLIT-HAND/FOOT MALFORMATION 3; SHFM3", "OMIM:614727": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K", "ORPHA:314679": "Cerebrofacioarticular syndrome/Van Maldergem syndrome 1", "OMIM:601390": "VAN MALDERGEM SYNDROME 1; VMLDS1", "OMIM:614868": "IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION; IMD110", "ORPHA:1308": "C syndrome/C syndrome / OTCS / Opitz C trigonocephaly / Opitz trigonocephaly C syndrome / Opitz trigonocephaly syndrome / Trigonocephaly C syndrome", "OMIM:211750": "C SYNDROME", "ORPHA:314769": "Somatomammotropinoma / GH and PRL cosecreting pituitary adenoma / Growth hormone and prolactin cosecreting pituitary adenoma / Somatolactotropinoma / Somatoprolactinoma", "ORPHA:314795": "SHOX-related short stature/Short stature, idiopathic familial", "OMIM:300582": "SHORT STATURE, IDIOPATHIC, X-LINKED; ISS", "ORPHA:314802": "Short stature due to partial GHR deficiency/Growth hormone insensitivity, partial / Short stature due to partial growth hormone receptor deficiency", "OMIM:604271": "GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP", "ORPHA:314811": "Short stature due to GHSR deficiency/Growth hormone deficiency, isolated partial / Ghrelin receptor deficiency / Short stature due to growth hormone secretagogue receptor deficiency", "OMIM:615925": "GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; GHDP", "ORPHA:1309": "Medullary sponge kidney / Cacchi-Ricci disease / MSK / Precalicial canalicular ectasia", "ORPHA:314911": "Severe Canavan disease / Infantile Canavan disease / Neonatal Canavan disease", "ORPHA:314918": "Mild Canavan disease / Juvenile Canavan disease", "ORPHA:314978": "X-linked non progressive cerebellar ataxia", "ORPHA:131": "Budd-Chiari syndrome/Budd-Chiari syndrome / BCS", "OMIM:600880": "BUDD-CHIARI SYNDROME; BDCHS", "OMIM:608227": "CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION", "ORPHA:315": "Erythrokeratoderma ''en cocardes'' / Degos genodermatosis \"en cocardes\"", "ORPHA:3151": "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome", "ORPHA:3152": "Sclerosteosis / Cortical hyperostosis-syndactyly syndrome", "ORPHA:3156": "Senior-Loken syndrome/Senior-Loken syndrome 1 / Nephronophthisis with retinal dystrophy / Renal dysplasia-retinal aplasia syndrome / SLSN", "OMIM:266900": "SENIOR-LOKEN SYNDROME 1; SLSN1", "ORPHA:3157": "Septo-optic dysplasia spectrum/Septooptic dysplasia / De Morsier syndrome / SOD", "OMIM:182230": "SEPTOOPTIC DYSPLASIA", "ORPHA:316": "Progressive symmetric erythrokeratodermia / Darier-Gottron disease / Erythrokeratodermia progressiva symmetrica / Progressive symmetric erythrokeratodermia, Gottron type", "ORPHA:1310": "Caffey disease/Caffey disease / Infantile cortical hyperostosis", "OMIM:114000": "CAFFEY DISEASE; CAFYD", "ORPHA:3162": "Sézary syndrome / Sézary lymphoma", "ORPHA:3163": "SHORT syndrome/Short syndrome / Lipodystrophy-Rieger anomaly-diabetes syndrome / Rieger anomaly-partial lipodystrophy syndrome", "OMIM:269880": "SHORT SYNDROME", "ORPHA:3164": "Omphalocele syndrome, Shprintzen-Goldberg type/Shprintzen omphalocele syndrome", "OMIM:182210": "SHPRINTZEN OMPHALOCELE SYNDROME", "ORPHA:3165": "Eosinophilic fasciitis/Eosinophilic fasciitis / Diffuse fasciitis with eosinophilia / Shulman syndrome", "OMIM:226350": "EOSINOPHILIC FASCIITIS", "ORPHA:3166": "Sialuria/Sialuria / Sialuria, French type", "OMIM:269921": "SIALURIA", "ORPHA:1313": "Infantile choroidocerebral calcification syndrome/Choroid plexus calcification and mental retardation", "OMIM:215480": "CHOROID PLEXUS CALCIFICATION AND IMPAIRED INTELLECTUAL DEVELOPMENT", "ORPHA:3168": "Sillence syndrome / Brachydactyly-symphalangism syndrome", "ORPHA:3169": "Sirenomelia", "ORPHA:317": "Erythrokeratodermia variabilis / EKV / Erythrokeratodermia variabilis, Mendes da Costa type", "ORPHA:31709": "Infantile convulsions and choreoathetosis/Convulsions, familial infantile, with paroxysmal choreoathetosis / ICCA syndrome / Paroxysmal kinesigenic dyskinesia and infantile convulsions", "OMIM:602066": "CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA", "ORPHA:3173": "Infantile spasms-broad thumbs syndrome / Tsao-Ellingson syndrome", "ORPHA:1314": "Symmetrical thalamic calcifications / Bilateral symmetrical thalamic gliosis", "OMIM:615966": "IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26", "OMIM:612782": "IMMUNODEFICIENCY 9; IMD9", "OMIM:612783": "IMMUNODEFICIENCY 10; IMD10", "OMIM:616873": "IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13", "OMIM:300853": "IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN", "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 / Der Kaloustian-Jarudi-Khoury syndrome", "OMIM:271310": "SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY", "ORPHA:318": "Acute erythroid leukemia / AML M6 / Acute myeloid leukemia M6 / Erythroleukemia", "ORPHA:3180": "Spondylocamptodactyly syndrome", "ORPHA:1318": "Campomelia, Cumming type/Campomelia, Cumming type / Cumming syndrome", "OMIM:211890": "CAMPOMELIA, CUMMING TYPE", "ORPHA:3181": "Sprengel deformity/Sprengel deformity / High scapula", "OMIM:184400": "SPRENGEL DEFORMITY", "ORPHA:31824": "Colchicine poisoning", "OMIM:265450": "PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1", "OMIM:184510": "STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH", "ORPHA:3186": "Holoprosencephaly-radial heart renal anomalies syndrome/Steinfeld syndrome", "OMIM:184705": "STEINFELD SYNDROME", "ORPHA:3188": "Congenital pulmonary veins atresia or stenosis", "ORPHA:1319": "Camptobrachydactyly/CAMPTOBRACHYDACTYLY", "OMIM:114150": "CAMPTOBRACHYDACTYLY", "ORPHA:3189": "Congenital pulmonary valvar stenosis / Congenital stenosis of pulmonary valve", "OMIM:612219": "EWING SARCOMA; ES", "ORPHA:3191": "Subaortic stenosis-short stature syndrome / Onat syndrome", "OMIM:614807": "MYOPATHY, CENTRONUCLEAR, 4; CNM4", "ORPHA:319171": "Distal 17p13.1 microdeletion syndrome / Distal del(17)(p13.1)", "ORPHA:319182": "Wiedemann-Steiner syndrome/Wiedemann-Steiner syndrome / Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome", "OMIM:605130": "WIEDEMANN-STEINER SYNDROME; WDSTS", "OMIM:614937": "MYOCLONUS, FAMILIAL, 1; MYOCL1", "ORPHA:319195": "Chondroectodermal dysplasia with night blindness", "ORPHA:132": "Butyrylcholinesterase deficiency/Butyrylcholinesterase deficiency / Hereditary butyrylcholinesterase deficiency / Hereditary pseudocholinesterase deficiency", "OMIM:617936": "BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED", "ORPHA:319199": "Autosomal recessive spastic paraplegia type 53/Spastic paraplegia 53, autosomal recessive / SPG53", "OMIM:614898": "SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53", "ORPHA:319213": "Lujo hemorrhagic fever / Zambian hemorrhagic fever", "ORPHA:319218": "Ebola hemorrhagic fever / EHF / Ebola fever / Ebola virus disease", "ORPHA:319251": "Rift valley fever", "ORPHA:3193": "Supravalvular aortic stenosis/Supravalvular aortic stenosis / SVAS", "OMIM:185500": "SUPRAVALVULAR AORTIC STENOSIS; SVAS", "ORPHA:319332": "Autosomal recessive myogenic arthrogryposis multiplex congenita/Arthrogryposis multiplex congenita 3, myogenic type / Autosomal recessive myogenic AMC / SYNE1-related AMC / SYNE1-related arthrogryposis multiplex congenita", "OMIM:618484": "ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE; AMC3", "OMIM:608837": "CARNEY COMPLEX VARIANT", "ORPHA:3194": "Corneodermatoosseous syndrome / CDO syndrome / Stern-Lubinsky-Durrie syndrome", "OMIM:605724": "FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1", "ORPHA:100073": "Neurogenic thoracic outlet syndrome / NTOS / Neurogenic TOS / Neurogenic cervical rib syndrome / Neurogenic costoclavicular syndrome / Neurogenic thoracic outlet compression syndrome", "ORPHA:1323": "Camptodactyly-joint contractures-facial skeletal defects syndrome / Rozin camptodactyly syndrome", "ORPHA:319487": "Familial papillary or follicular thyroid carcinoma / FNMTC / Familial pure nonmedullary thyroid carcinoma", "OMIM:614096": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8", "OMIM:614582": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9", "ORPHA:319514": "Combined oxidative phosphorylation defect type 13/Combined oxidative phosphorylation deficiency 13 / COXPD13", "OMIM:614932": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13", "OMIM:614946": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14", "OMIM:614947": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15", "ORPHA:1325": "Camptodactyly-taurinuria syndrome / Familial streblodactyly with amino-aciduria", "ORPHA:319552": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency/Immunodeficiency 30 / MSMD due to complete IL12RB1 deficiency / MSMD due to complete interleukin 12 receptor beta 1 deficiency / Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency", "OMIM:614891": "IMMUNODEFICIENCY 30; IMD30", "OMIM:614890": "IMMUNODEFICIENCY 29; IMD29", "OMIM:616126": "IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION; IMD38", "OMIM:615978": "IMMUNODEFICIENCY 27B; IMD27B", "OMIM:614892": "IMMUNODEFICIENCY 31A; IMD31A", "ORPHA:3196": "Steroid dehydrogenase deficiency-dental anomalies syndrome / Lyngstadaas syndrome", "ORPHA:1326": "Camptodactyly syndrome, Guadalajara type 2", "ORPHA:319600": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency/Immunodeficiency 32A / MSMD due to partial IRF8 deficiency / MSMD due to partial interferon regulatory factor 8 deficiency / Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency", "OMIM:614893": "IMMUNODEFICIENCY 32A; IMD32A", "OMIM:300636": "IMMUNODEFICIENCY 33; IMD33", "OMIM:300645": "IMMUNODEFICIENCY 34; IMD34", "OMIM:617920": "AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3; PLCA3", "OMIM:608051": "MACULAR DYSTROPHY, RETINAL, 2; MCDR2", "OMIM:614921": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T", "OMIM:613839": "MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY", "ORPHA:319671": "Alazami syndrome/Alazami syndrome / Microcephalic primordial dwarfism, Alazami type", "OMIM:615071": "ALAZAMI SYNDROME; ALAZS", "ORPHA:1327": "Camptodactyly syndrome, Guadalajara type 1", "ORPHA:319675": "Microcephalic primordial dwarfism, Dauber type/Seckel syndrome 7", "OMIM:614851": "SECKEL SYNDROME 7; SCKL7", "OMIM:614654": "COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5", "ORPHA:3197": "Hereditary hyperekplexia/Hyperekplexia 1 / Congenital stiff man syndrome / Familial startle disease / Hereditary hyperexplexia / Kok disease / Stiff baby syndrome", "OMIM:149400": "HYPEREKPLEXIA 1; HKPX1", "ORPHA:3198": "Stiff person spectrum disorder/Stiff-Person syndrome / Moersch-Woltman syndrome / SMS / Stiff man spectrum disorder", "OMIM:184850": "STIFF-PERSON SYNDROME; SPS", "ORPHA:3199": "Stimmler syndrome", "ORPHA:32": "Glutathione synthetase deficiency / Pyroglutamicaciduria", "ORPHA:320": "Apparent mineralocorticoid excess/Apparent mineralocorticoid excess / 11-beta-hydroxysteroid dehydrogenase deficiency type 2 / Ulick syndrome", "OMIM:218030": "APPARENT MINERALOCORTICOID EXCESS; AME", "ORPHA:3201": "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome/Ventricular extrasystoles with syncope, perodactyly, and Robin sequence / Stoll-Kieny-Dott syndrome", "OMIM:192445": "VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE", "ORPHA:1328": "Camurati-Engelmann disease/Camurati-Engelmann disease / Progressive diaphyseal dysplasia", "OMIM:131300": "CAMURATI-ENGELMANN DISEASE; CAEND", "ORPHA:3203": "Overhydrated hereditary stomatocytosis/Overhydrated hereditary stomatocytosis", "OMIM:185000": "OVERHYDRATED HEREDITARY STOMATOCYTOSIS; OHST", "ORPHA:320355": "Autosomal dominant spastic paraplegia type 41/Spastic paraplegia 41, autosomal dominant / SPG41", "OMIM:613364": "SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41", "ORPHA:320360": "MT-ATP6-related mitochondrial spastic paraplegia / Maternally-inherited SPG / Maternally-inherited spastic paraplegia", "ORPHA:320365": "Autosomal dominant spastic paraplegia type 36/Spastic paraplegia 36, autosomal dominant / SPG36", "OMIM:613096": "SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36", "ORPHA:320370": "Autosomal recessive spastic paraplegia type 43/Spastic paraplegia 43, autosomal recessive / SPG43", "OMIM:615043": "SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43", "ORPHA:320375": "Autosomal recessive spastic paraplegia type 55/Spastic paraplegia 55, autosomal recessive / SPG55", "OMIM:615035": "SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55", "ORPHA:320380": "Autosomal recessive spastic paraplegia type 54/Spastic paraplegia 54, autosomal recessive / SPG54", "OMIM:615033": "SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54", "ORPHA:320385": "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation/Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay / Autosomal recessive spastic paraplegia type 49 / HSAN due to TECPR2 mutation / SPG49", "OMIM:615031": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY; HSAN9", "ORPHA:320391": "Autosomal recessive spastic paraplegia type 46/Spastic paraplegia 46, autosomal recessive / SPG46", "OMIM:614409": "SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46", "ORPHA:320396": "Autosomal recessive spastic paraplegia type 45/Spastic paraplegia 45, autosomal recessive / Autosomal recessive spastic paraplegia type 65 / SPG45 / SPG65", "OMIM:613162": "SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45", "ORPHA:3204": "Stormorken-Sjaastad-Langslet syndrome/Stormorken syndrome / Thrombocytopathy-asplenia-miosis syndrome", "OMIM:185070": "STORMORKEN SYNDROME; STRMK", "ORPHA:320401": "Autosomal recessive spastic paraplegia type 44/Spastic paraplegia 44, autosomal recessive / SPG44", "OMIM:613206": "SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44", "ORPHA:320406": "Spastic paraplegia-optic atrophy-neuropathy syndrome/Spastic paraplegia, optic atrophy, and neuropathy / SPOAN", "OMIM:609541": "SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN", "ORPHA:320411": "Autosomal recessive spastic paraplegia type 56/Spastic paraplegia 56, autosomal recessive / SPG56", "OMIM:615030": "SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM; SPG56", "ORPHA:3205": "Sturge-Weber syndrome/Sturge-Weber syndrome / Encephalofacial angiomatosis / Encephalotrigeminal angiomatosis / Sturge-Weber-Dimitri syndrome / Sturge-Weber-Krabbe angiomatosis / Sturge-Weber-Krabbe syndrome", "OMIM:185300": "STURGE-WEBER SYNDROME; SWS", "ORPHA:3206": "Stüve-Wiedemann syndrome/Stuve-Wiedemann syndrome / SWS / Neonatal Schwartz-Jampel syndrome / SJS2 / STWS / Schwartz-Jampel syndrome type 2 / Stüve-Wiedemann dysplasia / Stüve-Wiedemann syndrome type 1", "OMIM:601559": "STUVE-WIEDEMANN SYNDROME 1; STWS1", "ORPHA:3207": "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome / Curatolo-Cilio-Pessagno syndrome", "ORPHA:3208": "Isolated succinate-CoQ reductase deficiency/Mitochondrial complex II deficiency / Isolated mitochondrial respiratory chain complex II deficiency / Isolated succinate dehydrogenase deficiency / Isolated succinate-coenzyme Q reductase deficiency / Isolated succinate-ubiquinone reductase deficiency", "OMIM:252011": "MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1; MC2DN1", "ORPHA:321": "Multiple osteochondromas/Exostoses, multiple, type I / Bessel-Hagen disease / Multiple cartilaginous exostoses", "OMIM:133700": "EXOSTOSES, MULTIPLE, TYPE I; EXT1", "ORPHA:3210": "Summitt syndrome/Summitt syndrome", "OMIM:272350": "SUMMITT SYNDROME", "ORPHA:3214": "Deaf blind hypopigmentation syndrome, Yemenite type/Yemenite deaf-blind hypopigmentation syndrome / Warburg-Thomsen syndrome", "OMIM:601706": "YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME", "ORPHA:3216": "Conductive deafness-malformed external ear syndrome/Deafness, conductive, with malformed external ear / Conductive hearing loss-malformed external ear syndrome / Mengel-Konigsmark syndrome", "OMIM:221300": "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 / Groll-Hirschowitz syndrome / Hearing loss-small bowel diverticulosis-neuropathy syndrome", "OMIM:221400": "DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY", "ORPHA:1330": "Partial atrioventricular septal defect / PAVC / Partial AVSD / Partial atrioventricular canal defect", "ORPHA:3218": "Deafness-epiphyseal dysplasia-short stature syndrome / Chitty-Hall-Baraitser syndrome / Hearing loss-epiphyseal dysplasia-short stature syndrome", "ORPHA:3219": "Fountain syndrome/Fountain syndrome / Deafness-skeletal dysplasia-coarse face with full lips syndrome / Deafness-skeletal dysplasia-lip granuloma syndrome / Hearing loss-skeletal dysplasia-coarse face with full lips syndrome / Hearing loss-skeletal dysplasia-lip granuloma syndrome", "OMIM:229120": "FOUNTAIN SYNDROME", "ORPHA:322": "Exstrophy-epispadias complex/Exstrophy of bladder / BEEC / Bladder exstrophy-epispadias-cloacal extrophy complex", "OMIM:600057": "BLADDER EXSTROPHY AND EPISPADIAS COMPLEX; BEEC", "ORPHA:3220": "Deafness-enamel hypoplasia-nail defects syndrome/Heimler syndrome 1 / Hearing loss-enamel hypoplasia-nail defects syndrome", "OMIM:234580": "HEIMLER SYNDROME 1; HMLR1", "ORPHA:3222": "Phosphoribosylpyrophosphate synthetase superactivity / PRPP synthetase superactivity / PRPS1 superactivity", "ORPHA:3224": "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome / Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome / Pfeiffer-Kapferer syndrome", "ORPHA:3225": "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome / Tungland-Bellman syndrome", "ORPHA:3226": "Deafness-lymphedema-leukemia syndrome/Lymphedema, primary, with myelodysplasia / Emberger syndrome / Hearing loss-lymphedema-leukemia syndrome", "OMIM:614038": "LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA", "ORPHA:3230": "Deafness-oligodontia syndrome/Deafness-Oligodontia syndrome / Hearing loss-oligodontia syndrome", "OMIM:221740": "DEAFNESS-OLIGODONTIA SYNDROME", "ORPHA:3232": "Deafness-ear malformation-facial palsy syndrome / Hearing loss-ear malformation-facial palsy syndrome / Sellars-Beighton syndrome", "ORPHA:3233": "Cochleosaccular degeneration-cataract syndrome/Cochleosaccular degeneration of the inner ear with progressive cataracts", "OMIM:120040": "COCHLEOSACCULAR DEGENERATION WITH PROGRESSIVE CATARACTS", "ORPHA:3235": "Progressive deafness with stapes fixation/Deafness, progressive, with stapes fixation / Progressive hearing loss with stapes fixation / Stapedo-vestibular ankylosis / Thies-Reis syndrome", "OMIM:601449": "DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION", "ORPHA:3236": "Conductive deafness-ptosis-skeletal anomalies syndrome/Deafness, conductive, with ptosis and skeletal anomalies / Conductive hearing loss-ptosis-skeletal anomalies syndrome / Jackson-Barr syndrome", "OMIM:221320": "DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES", "ORPHA:3237": "Multiple synostoses syndrome / Deafness-Hermann type symphalangism syndrome / Facio-audio-symphalangism / Hearing loss-Hermann type symphalangism syndrome / Symphalangism-brachydactyly syndrome / WL syndrome", "ORPHA:3238": "Cardiospondylocarpofacial syndrome/Cardiospondylocarpofacial syndrome / Forney syndrome / Forney-Robinson-Pascoe syndrome / Mitral regurgitation-deafness-skeletal anomalies syndrome / Mitral regurgitation-hearing loss-skeletal anomalies syndrome", "OMIM:157800": "CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF", "ORPHA:3239": "Deafness-vitiligo-achalasia syndrome/Deafness, congenital, with vitiligo and achalasia / Hearing loss-vitiligo-achalasia syndrome", "OMIM:221350": "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 / Alpha-galactosidase A deficiency / Anderson-Fabry disease / FD", "OMIM:301500": "FABRY DISEASE", "ORPHA:3240": "Central nervous system calcification-deafness-tubular acidosis-anemia syndrome / Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome / Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome", "ORPHA:1332": "Medullary thyroid carcinoma / MTC", "ORPHA:3241": "Deafness-craniofacial syndrome / Hearing loss-craniofacial syndrome", "ORPHA:3242": "Renpenning syndrome/Renpenning syndrome / X-linked intellectual disability due to PQBP1 mutations / X-linked intellectual disability, Renpenning type", "OMIM:309500": "RENPENNING SYNDROME 1; RENS1", "ORPHA:324262": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency/Spinocerebellar ataxia, autosomal recessive 13 / Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency / Autosomal recessive spinocerebellar ataxia type 13 / SCAR13", "OMIM:614831": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13", "ORPHA:324290": "Early-onset Lafora body disease/Epilepsy, progressive myoclonic, 10", "OMIM:616640": "EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10", "OMIM:618307": "IMMUNODEFICIENCY 129; IMD129", "ORPHA:324313": "9p13 microdeletion syndrome / Del(9)(p13) / Monosomy 9p13", "OMIM:614896": "SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD", "ORPHA:100075": "Neuroendocrine tumor of stomach / GNET / Gastric NET / Gastric neuroendocrine tumor / NET of stomach", "ORPHA:1333": "Familial pancreatic carcinoma / Familial pancreatic cancer", "ORPHA:324410": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome/Mental retardation, X-linked, syndromic 32", "OMIM:300886": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 32; MRXS32", "ORPHA:324416": "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome", "ORPHA:324422": "ALG13-CDG / CDG syndrome type Is / CDG-Is / CDG1S / Congenital disorder of glycosylation type 1s / Congenital disorder of glycosylation type Is", "ORPHA:324442": "Autosomal recessive axonal neuropathy with neuromyotonia/Neuromyotonia and axonal neuropathy, autosomal recessive / ARAN-NM / ARCMT2-NM / Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia", "OMIM:137200": "NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN", "OMIM:614878": "AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION; APLAID", "OMIM:614922": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11", "ORPHA:1334": "Chronic mucocutaneous candidiasis/Candidiasis, familial chronic mucocutaneous, autosomal dominant / CMC", "OMIM:114580": "CANDIDIASIS, FAMILIAL, 1; CANDF1", "ORPHA:324540": "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome / Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome / Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome", "OMIM:615522": "COLE DISEASE; COLED", "OMIM:614961": "PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8", "ORPHA:324575": "Hyperinsulinism due to HNF1A deficiency / Hyperinsulinemic hypoglycemia due to HNF1A deficiency", "ORPHA:324581": "Benign Samaritan congenital myopathy", "ORPHA:324588": "Familial dyskinesia and facial myokymia/Dyskinesia, familial, with facial myokymia / FDFM", "OMIM:606703": "DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL DOMINANT; DSKOD", "ORPHA:3246": "Symphalangism with multiple anomalies of hands and feet / Learman syndrome", "ORPHA:324604": "Classic multiminicore myopathy / Classic MmD / Classic multiminicore disease", "ORPHA:1335": "Pentalogy of Cantrell/Thoracoabdominal syndrome / Cantrell deformity / Cantrell syndrome / Thoraco-abdominal syndrome", "OMIM:313850": "THORACOABDOMINAL SYNDROME; THAS", "ORPHA:324703": "ABetaL34V amyloidosis / ABeta amyloidosis, Piedmont type / ABetaL34V-related amyloidosis / HCHWA, Piedmont type / Hereditary cerebral hemorrhage with amyloidosis, Piedmont type", "ORPHA:324708": "ABeta amyloidosis, Iowa type / ABetaD23N amyloidosis / HCHWA, Iowa type / Hereditary cerebral hemorrhage with amyloidosis, Iowa type", "ORPHA:324713": "ABeta amyloidosis, Italian type / ABetaE22K amyloidosis / HCHWA, Italian type / Hereditary cerebral hemorrhage with amyloidosis, Italian type", "ORPHA:324723": "ABeta amyloidosis, Arctic type / ABetaE22G amyloidosis / HCHWA, Arctic type / Hereditary cerebral hemorrhage with amyloidosis, Arctic type", "ORPHA:1336": "Hyperkeratosis-hyperpigmentation syndrome", "ORPHA:324737": "SRD5A3-CDG/Congenital disorder of glycosylation, type IQ / CDG syndrome type Iq / CDG-Iq / CDG1Q / Congenital disorder of glycosylation type 1q / Congenital disorder of glycosylation type Iq", "OMIM:612379": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q", "ORPHA:3248": "Distal symphalangism/Symphalangism, distal / Isolated distal symphalangism", "OMIM:185700": "SYMPHALANGISM, DISTAL", "ORPHA:1338": "Heart defect-tongue hamartoma-polysyndactyly syndrome/Congenital heart defects, hamartomas of tongue, and polysyndactyly / Ostravik-Lindemann-Solberg syndrome", "OMIM:217085": "CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP", "ORPHA:324964": "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis/Chronic recurrent multifocal osteomyelitis / CNO/CRMO", "OMIM:259680": "CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 3; CRMO3", "OMIM:256040": "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1", "ORPHA:325": "Congenital factor II deficiency/Congenital prothrombin deficiency / Dysprothrombinemia / Hypoprothrombinemia / Prothrombin deficiency", "OMIM:613679": "PROTHROMBIN DEFICIENCY, CONGENITAL", "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 / 3-ketothiolase deficiency / 3-oxothiolase deficiency / Alpha methylacetoacetic aciduria / Alpha-methyl-acetoacetyl-CoA thiolase deficiency / Mitochondrial acetoacetyl-coenzyme A thiolase deficiency / T2 deficiency", "OMIM:203750": "ALPHA-METHYLACETOACETIC ACIDURIA", "ORPHA:3250": "Proximal symphalangism/Symphalangism, proximal, 1A / Symphalangism, Cushing type", "OMIM:185800": "SYMPHALANGISM, PROXIMAL, 1A; SYM1A", "ORPHA:325124": "Testicular agenesis / Bilateral anorchia", "ORPHA:3253": "Cleft lip/palate-ectodermal dysplasia syndrome/Cleft lip/palate-ectodermal dysplasia syndrome / CLPED1 / Cleft lip/palate-syndactyly-pili torti syndrome / Syndactyly-ectodermal dysplasia-cleft/lip palate / Zlotogora-Ogur syndrome", "OMIM:225060": "CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1", "ORPHA:1340": "Cardiofaciocutaneous syndrome/Cardiofaciocutaneous syndrome 1 / CFC syndrome", "OMIM:115150": "CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1", "ORPHA:325345": "46,XY ovotesticular disorder of sex development / 46,XY ovotesticular difference of sex development / 46,XY ovotesticular DSD", "OMIM:228300": "HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA; HH23", "ORPHA:3255": "Filippi syndrome/Filippi syndrome / Type 1 syndactyly-microcephaly-intellectual disability syndrome", "OMIM:272440": "FILIPPI SYNDROME; FLPIS", "OMIM:140450": "HEART-HAND SYNDROME, SPANISH TYPE", "ORPHA:3258": "Cenani-Lenz syndrome/Cenani-Lenz syndactyly syndrome / Cenani syndactyly / Syndactyly type 7", "OMIM:212780": "CENANI-LENZ SYNDACTYLY SYNDROME; CLSS", "OMIM:186350": "SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME", "ORPHA:326": "Congenital factor V deficiency/Factor V deficiency / Owren disease / Parahemophilia / Proaccelerin deficiency", "OMIM:227400": "FACTOR V DEFICIENCY", "ORPHA:3260": "Idiopathic hypereosinophilic syndrome/Hypereosinophilic syndrome, idiopathic", "OMIM:607685": "HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES", "ORPHA:3261": "Autoimmune lymphoproliferative syndrome/Autoimmune lymphoproliferative syndrome / ALPS / Canale-Smith syndrome", "OMIM:601859": "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS", "ORPHA:3265": "Humero-radial synostosis/Humeroradial synostosis, Humeroradial synostosishumeroradial/multiple synostosis syndrome / Isolated humero-radial synostosis / Isolated congenital humeroradial fusion", "OMIM:143050": "HUMERORADIAL SYNOSTOSIS", "OMIM:236400": "HUMERORADIAL SYNOSTOSIS", "ORPHA:3266": "Humero-radio-ulnar synostosis / Isolated humero-radio-ulnar synostosis / Isolated congenital humero-radioulnar fusion", "ORPHA:3268": "Radioulnar synostosis-microcephaly-scoliosis syndrome / Giuffré-Tsukahara syndrome", "ORPHA:1345": "Cardiomyopathy-cataract-hip spine disease syndrome / Krasnow-Qazi syndrome", "ORPHA:327": "Congenital factor VII deficiency/Factor VII deficiency / Congenital proconvertin deficiency / Hypoproconvertinemia", "OMIM:227500": "FACTOR VII DEFICIENCY", "ORPHA:3270": "Radioulnar synostosis-developmental delay-hypotonia syndrome/Radioulnar synostosis, unilateral, with developmental retardationand hypotonia / Der Kaloustian-McIntosh-Silver syndrome", "OMIM:266255": "RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA", "OMIM:300813": "SARCOMA, SYNOVIAL", "OMIM:272460": "SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT", "ORPHA:328": "Congenital factor X deficiency/Factor X deficiency / Congenital Stuart factor deficiency / Stuart-Prower factor deficiency", "OMIM:227600": "FACTOR X DEFICIENCY", "OMIM:186700": "SYRINGOMYELIA, NONCOMMUNICATING ISOLATED", "ORPHA:3283": "His bundle tachycardia / JET / Junctional ectopic 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 / Bidirectional ventricular tachycardia induced by catecholamine / Malignant paroxysmal ventricular tachycardia / Polymorphic ventricular tachycardia induced by catecholamines", "OMIM:604772": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1", "ORPHA:100076": "Duodenal neuroendocrine tumor", "ORPHA:1349": "Mitochondrial DNA-related cardiomyopathy and hearing loss / Maternally-inherited cardiomyopathy and deafness / mtDNA-related cardiomyopathy and deafness / mtDNA-related cardiomyopathy and hearing loss / tRNA-LYS-related cardiomyopathy-hearing loss syndrome", "ORPHA:3287": "Takayasu arteritis/Takayasu arteritis", "OMIM:207600": "TAKAYASU ARTERITIS", "OMIM:272700": "TAURODONTISM", "ORPHA:329": "Congenital factor XI deficiency/Factor XI deficiency / Hemophilia C / PTA deficiency / Plasma thromboplastin antecedent deficiency / Rosenthal factor deficiency / Rosenthal syndrome", "OMIM:612416": "FACTOR XI DEFICIENCY", "OMIM:272950": "TEEBI-SHALTOUT SYNDROME; TBSH", "ORPHA:329178": "Congenital muscular dystrophy with intellectual disability and severe epilepsy/Congenital disorder of glycosylation, type Iu / CDG syndrome type Iu / CDG-Iu / CDG1U / CMD with intellectual disability and severe epilepsy / Carbohydrate deficient glycoprotein syndrome type Iu / Congenital disorder of glycosylation type 1u / Congenital disorder of glycosylation type Iu / DPM2-CDG", "OMIM:615042": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U", "OMIM:615923": "EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE; ECDM", "OMIM:615516": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38; MRT38", "OMIM:211960": "CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES", "OMIM:193235": "VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI", "ORPHA:135": "CACH syndrome/Leukoencephalopathy with vanishing white matter / Childhood ataxia with diffuse central nervous system hypomyelination / Myelinosis centralis diffusa", "OMIM:603896": "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1; VWM1", "ORPHA:329224": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome/Schuurs-Hoeijmakers syndrome / PACS1-NDD / PACS1-neurodevelopmental disorder / PACS1-related syndrome", "OMIM:615009": "SCHUURS-HOEIJMAKERS SYNDROME; SHMS", "ORPHA:329228": "Microcephalic primordial dwarfism due to ZNF335 deficiency/Microcephaly 10, primary, autosomal recessive / Microcephalic primordial dwarfism, Walsh type", "OMIM:615095": "MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10", "OMIM:300888": "HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT; CHTE", "ORPHA:329249": "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency", "OMIM:615025": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q", "ORPHA:329284": "Beta-propeller protein-associated neurodegeneration/Neurodegeneration with brain iron accumulation 5 / BPAN / NBIA5 / Neurodegeneration with brain iron accumulation type 5 / SENDA / Static encephalopathy of childhood with neurodegeneration in adulthood", "OMIM:300894": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5", "ORPHA:1350": "Heart-hand syndrome type 2 / Atriodigital dysplasia type 2 / Tabatznik syndrome", "ORPHA:329308": "Fatty acid hydroxylase-associated neurodegeneration / FAHN", "ORPHA:329314": "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency/Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 / Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency", "OMIM:617070": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4", "ORPHA:329329": "Autosomal recessive frontotemporal pachygyria", "OMIM:614407": "MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME; MCHCCD", "ORPHA:329336": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy / Adult-onset CPEO with mitochondrial myopathy", "ORPHA:3294": "Extensor tendons of finger anomalies/Tendons, extensor, of fingers, anomalous insertion of / Hapnes-Boman-Skeie syndrome", "OMIM:187390": "TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF", "ORPHA:1352": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome / Houlston-Ironton-Temple syndrome", "OMIM:615065": "ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D", "ORPHA:329466": "Autosomal dominant focal dystonia, DYT25 type/Dystonia 25", "OMIM:615073": "DYSTONIA 25; DYT25", "ORPHA:329475": "Spastic paraplegia-Paget disease of bone syndrome", "ORPHA:329478": "Adult-onset distal myopathy due to VCP mutation", "OMIM:611771": "LIPOPROTEIN GLOMERULOPATHY; LPG", "ORPHA:32960": "Tumor necrosis factor receptor 1 associated periodic syndrome/Periodic fever, familial, autosomal dominant / Familial Hibernian fever / TNF receptor 1-associated periodic syndrome / TRAPS syndrome", "OMIM:142680": "PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; FPF", "OMIM:613174": "CHROMOSOME 5p13 DUPLICATION SYNDROME", "ORPHA:1354": "Heart defects-limb shortening syndrome", "OMIM:615008": "NEPHROTIC SYNDROME, TYPE 7; NPHS7", "OMIM:614809": "C3 GLOMERULOPATHY 3; C3G3", "ORPHA:329971": "Generalized juvenile polyposis/juvenile polyposis coli/Juvenile polyposis syndrome", "OMIM:174900": "JUVENILE POLYPOSIS SYNDROME; JPS", "ORPHA:1355": "Congenital heart defect-round face-developmental delay syndrome/Sonoda syndrome", "OMIM:270460": "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 / Isovaleric acid CoA dehydrogenase deficiency", "OMIM:243500": "ISOVALERIC ACIDEMIA; IVA", "ORPHA:330": "Congenital factor XII deficiency/Factor XII deficiency / Congenital Hageman factor deficiency", "OMIM:234000": "FACTOR XII DEFICIENCY", "ORPHA:330001": "Wild type ATTR amyloidosis / ATTRwt amyloidosis / ATTRwt-related amyloidosis / Senile systemic amyloidosis / Wild type ATTR-related amyloidosis", "ORPHA:33001": "Lymphedema-distichiasis syndrome/Lymphedema-Distichiasis syndrome", "OMIM:153400": "LYMPHEDEMA-DISTICHIASIS SYNDROME; LPHDST", "ORPHA:330021": "Mercury poisoning / Hydrargyria / Mercurialism / Mercury intoxication", "ORPHA:1358": "Carey-Fineman-Ziter syndrome/Carey-Fineman-Ziter syndrome / Myopathy-Moebius-Robin syndrome", "OMIM:254940": "CAREY-FINEMAN-ZITER SYNDROME 1; CFZS1", "ORPHA:330050": "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect/Encephalopathy due to defective mitochondrial and peroxisomal fission 1", "OMIM:614388": "ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1; EMPF1", "ORPHA:330054": "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome/Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay / Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome", "OMIM:613076": "MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY; MPMCD", "OMIM:174770": "ACTINIC PRURIGO", "ORPHA:330064": "Chronic actinic dermatitis / Actinic reticuloid / Chronic photosensitivity dermatitis", "ORPHA:3301": "Tetraamelia-multiple malformations syndrome / PAPPA syndrome / PAPPAS / Zimmer phocomelia", "ORPHA:1359": "Carney complex / Carney syndrome / Myxoma-spotty pigmentation-endocrine overactivity syndrome", "ORPHA:3303": "Tetralogy of Fallot/Tetralogy of Fallot", "OMIM:187500": "TETRALOGY OF FALLOT; TOF", "ORPHA:3304": "Fallot complex-intellectual disability-growth delay syndrome/Fallot complex with severe mental and growth retardation / Bindewald-Ulmer-Müller syndrome", "OMIM:601127": "FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION", "ORPHA:3305": "Tetraploidy / Tetraploidy syndrome", "ORPHA:3306": "Inverted duplicated chromosome 15 syndrome / Duplication/inversion 15q11 / Inv dup (15) syndrome / Isodicentric chromosome 15 syndrome / Non-distal tetrasomy 15q / Non-telomeric tetrasomy 15q / idic (15) syndrome", "OMIM:156400": "METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE; MCDJ", "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) / Severe myoclonic epilepsy of infancy / Severe myoclonus epilepsy of infancy", "OMIM:607208": "DRAVET SYNDROME; DRVT", "ORPHA:3307": "Tetrasomy 18p / Tetrasomy 18p syndrome / Isochromosome 18p", "ORPHA:3309": "Tetrasomy 5p / Tetrasomy 5p syndrome / Isochromosome 5p", "ORPHA:331": "Congenital factor XIII deficiency / Fibrin-stabilizing factor deficiency", "ORPHA:3310": "Tetrasomy 9p / Tetrasomy 9p syndrome / Isochromosome 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 / Hereditary multi-infarct dementia", "OMIM:125310": "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1", "OMIM:253290": "MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS", "ORPHA:33110": "Autosomal agammaglobulinemia/Agammaglobulinemia 1, autosomal recessive / Agammaglobulinemia, non-Bruton type", "OMIM:601495": "AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1", "ORPHA:33111": "Granulomatous slack skin", "OMIM:612541": "NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4", "OMIM:613791": "MASP2 DEFICIENCY", "OMIM:613860": "FICOLIN 3 DEFICIENCY", "ORPHA:3312": "Thalidomide embryopathy / Fetal thalidomide syndrome", "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 / SCID due to complete RAG1/2 deficiency", "OMIM:601457": "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE", "ORPHA:1361": "Carnosinase deficiency/CARNOSINEMIA", "OMIM:212200": "CARNOSINEMIA", "OMIM:611521": "IMMUNODEFICIENCY 35; IMD35", "ORPHA:3314": "Thiemann disease, familial form/Thiemann disease / Aseptic necrosis of phalangeal epiphyses / Osteochondrosis of phalangeal epiphyses", "OMIM:165700": "THIEMANN DISEASE", "ORPHA:100077": "Jejunal neuroendocrine tumor / Jejunal neuroendocrine neoplasm", "ORPHA:1366": "Autosomal recessive palmoplantar keratoderma and congenital alopecia/Palmoplantar keratoderma and congenital alopecia 2 / Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia / Cataract-alopecia-sclerodactyly syndrome / PPK-CA, Wallis type / Palmoplantar keratoderma and congenital alopecia, Wallis type", "OMIM:212360": "PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 2; PPKCA2", "ORPHA:3316": "Thomas syndrome / Potter sequence-cleft lip/palate-cardiopathy syndrome", "OMIM:187770": "THORACOPELVIC DYSOSTOSIS", "ORPHA:3318": "Essential thrombocythemia / ET / Essential thrombocytosis", "ORPHA:3319": "Congenital amegakaryocytic thrombocytopenia/Amegakaryocytic thrombocytopenia, congenital / CAMT", "OMIM:604498": "AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1; CAMT1", "OMIM:261000": "INTRINSIC FACTOR DEFICIENCY; IFD", "ORPHA:3320": "Thrombocytopenia-absent radius syndrome/Thrombocytopenia-absent radius syndrome / TAR syndrome", "OMIM:274000": "THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR", "ORPHA:33208": "Idiopathic hypersomnia / Idiopathic excessive sleepiness", "ORPHA:3322": "Hoyeraal-Hreidarsson syndrome / Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome", "ORPHA:33226": "Waldenström macroglobulinemia/Macroglobulinemia, Waldenstrom, somatic", "OMIM:153600": "MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1", "ORPHA:1368": "Cataract-ataxia-deafness syndrome/Cataract-Ataxia-Deafness-Retardation syndrome / Cataract-ataxia-hearing loss syndrome", "OMIM:212710": "CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME", "ORPHA:3325": "Heparin-induced thrombocytopenia / HAT / HIT / Heparin-associated thrombocytopenia / Heparin-induced thrombocytopenia type 2", "OMIM:274265": "THYMIC-RENAL-ANAL-LUNG DYSPLASIA", "ORPHA:3327": "Thyrocerebrorenal syndrome/Thyrocerebroretinal syndrome / Cutler-Bass-Romshe syndrome", "OMIM:274240": "THYROCEREBRORETINAL SYNDROME", "ORPHA:33276": "Kaposi sarcoma", "ORPHA:3329": "Tibial aplasia-ectrodactyly syndrome / Aplasia of tibia with split-hand/split-foot deformity / SHFLD syndrome / SHFM associated with aplasia of long bones / Split hand/foot malformation with long bone deficiency / Split-hand/foot malformation associated with aplasia of long bones / TH-SHFM / Tibial hemimelia with split hand/foot malformation / Tibial hemimelia-ectrodactyly syndrome", "ORPHA:333": "Farber disease/Farber lipogranulomatosis / Acid ceramidase deficiency", "OMIM:228000": "FARBER LIPOGRANULOMATOSIS; FRBRL", "ORPHA:33314": "Jessner lymphocytic infiltration of the skin / Jessner-Kanof lymphocytic infiltration of the skin", "ORPHA:33355": "Reticular dysgenesis/Reticular dysgenesia / AK2 deficiency / De Vaal disease / SCID with sensorineural deafness / SCID with sensorineural hearing loss / Severe combined immunodeficiency with sensorineural deafness / Severe combined immunodeficiency with sensorineural hearing loss", "OMIM:267500": "RETICULAR DYSGENESIS", "ORPHA:1369": "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome/Sengers syndrome", "OMIM:212350": "SENGERS SYNDROME", "ORPHA:33364": "Trichothiodystrophy", "ORPHA:3337": "Primary Fanconi renotubular syndrome/Fanconi renotubular syndrome 1 / DeToni-Debré-Fanconi syndrome / Primary Fanconi renal syndrome", "OMIM:134600": "FANCONI RENOTUBULAR SYNDROME 1; FRTS1", "OMIM:217980": "CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE", "ORPHA:3339": "Toriello-Lacassie-Droste syndrome/Oculoectodermal syndrome / Aplasia cutis congenita-epibulbar dermoids syndrome", "OMIM:600268": "OCULOECTODERMAL SYNDROME; OES", "OMIM:608583": "ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1", "ORPHA:33402": "Pediatric hepatocellular carcinoma / Childhood-onset HCC / Childhood-onset hepatocellular carcinoma / Pediatric HCC", "ORPHA:33408": "Bullous lichen planus", "OMIM:314300": "TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR", "ORPHA:3342": "Arterial tortuosity syndrome/Arterial tortuosity syndrome", "OMIM:208050": "ARTERIAL TORTUOSITY SYNDROME; ATORS", "ORPHA:3344": "Weismann-Netter syndrome/Weismann-Netter syndrome / Anterior bowing of legs with dwarfism / Toxopachyosteose diaphysaire tibio-peroniere / WNS / Weismann-Netter-Stuhl syndrome", "OMIM:112350": "WEISMANN-NETTER SYNDROME; WNS", "ORPHA:33445": "Neuroectodermal melanolysosomal disease/Elejalde disease / Elejalde neuroectodermal melanolysosomal disease", "OMIM:256710": "ELEJALDE NEUROECTODERMAL MELANOLYSOSOMAL SYNDROME", "ORPHA:3346": "Tracheal agenesis / Tracheal atresia", "ORPHA:3347": "Mounier-Kühn syndrome/TRACHEOBRONCHOMEGALY / Congenital tracheobronchomegaly / Idiopathic tracheobronchomegaly / Tracheobronchomegaly", "OMIM:275300": "TRACHEOBRONCHOMEGALY", "ORPHA:3348": "Tracheobronchopathia osteochondroplastica / Tracheopathia osteoplastica", "ORPHA:335": "Congenital fibrinogen deficiency", "ORPHA:3350": "Tremor-nystagmus-duodenal ulcer syndrome/Tremor, nystagmus, and duodenal ulcer / Neuhauser-Daly-Magnelli syndrome", "OMIM:190310": "TREMOR, NYSTAGMUS, AND DUODENAL ULCER", "OMIM:601453": "TRICHODENTAL DYSPLASIA", "ORPHA:3352": "Tricho-dento-osseous syndrome/Trichodentoosseous syndrome / TDO syndrome", "OMIM:190320": "TRICHODENTOOSSEOUS SYNDROME; TDO", "ORPHA:1373": "Cataract-aberrant oral frenula-growth delay syndrome / Wellesley-Carman-French syndrome", "ORPHA:3353": "Trichodermodysplasia-dental alterations syndrome / Pinheiro-Freire Maia-Miranda syndrome", "OMIM:148840": "KLEINE-LEVIN HIBERNATION SYNDROME", "OMIM:260005": "5-OXOPROLINASE DEFICIENCY; OPLAHD", "OMIM:231950": "GLUTATHIONURIA", "ORPHA:33574": "Glutamate-cysteine ligase deficiency/Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto / Gamma-glutamylcysteine synthetase deficiency", "OMIM:230450": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 7; CNSHA7", "ORPHA:33577": "Nodular non-suppurative panniculitis / Idiopathic lobular panniculitis / Idiopathic nodular panniculitis / Pfeiffer-Weber-Christian syndrome / Relapsing febrile nodular nonsuppurative panniculitis / Relapsing febrile nodular panniculitis / WCD / Weber-Christian disease / Weber-Christian panniculitis", "ORPHA:3361": "Trichodysplasia-xeroderma syndrome", "OMIM:275400": "OLIVER-MCFARLANE SYNDROME; OMCS", "ORPHA:1375": "Cataract-hypertrichosis-intellectual disability syndrome/Cahmr syndrome / CAHMR syndrome", "OMIM:211770": "CAHMR SYNDROME", "ORPHA:3366": "Non-syndromic metopic craniosynostosis / Isolated metopic craniosynostosis / Isolated trigonocephaly / Non-syndromic metopic suture synostosis", "ORPHA:3369": "Trigonocephaly-short stature-developmental delay syndrome/Trigonocephaly with short stature and developmental delay / Say-Meyer syndrome", "OMIM:314320": "TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY", "ORPHA:337": "Fibrodysplasia ossificans progressiva/Fibrodysplasia ossificans progressiva / FOP / Myositis ossificans progressiva / Stone man syndrome", "OMIM:135100": "FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP", "ORPHA:3374": "Triopia / Unilateral ocular duplication / Triophthalmia / Unilateral diplophthalmia / Unilateral diplophthalmos", "ORPHA:3375": "Trisomy X / Trisomy X syndrome / 47,XXX syndrome / Triplo-X syndrome", "ORPHA:3376": "Triploidy / Triploidy syndrome", "ORPHA:3377": "Trismus-pseudocamptodactyly syndrome/Arthrogryposis, distal, type 7 / Distal arthrogryposis type 7 / Dutch-Kentucky syndrome / Hecht syndrome / Hecht-Beals syndrome", "OMIM:158300": "ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7", "ORPHA:3378": "Trisomy 13 / Trisomy 13 syndrome / Patau syndrome", "ORPHA:3379": "Distal trisomy 17q / Distal duplication 17q syndrome / Telomeric duplication 17q / Trisomy 17qter", "ORPHA:3380": "Trisomy 18 / Trisomy 18 syndrome / Chromosome 18 duplication / Edwards syndrome", "OMIM:191000": "TROCHLEA OF THE HUMERUS, APLASIA OF", "ORPHA:3386": "American trypanosomiasis / Chagas disease", "OMIM:600457": "HYPERTRICHOSIS, ANTERIOR CERVICAL", "ORPHA:3389": "Tuberculosis", "ORPHA:340": "Hemorrhagic fever-renal syndrome / Hantavirosis / Hantavirus fever", "ORPHA:3400": "Aorto-ventricular tunnel", "ORPHA:3404": "Ulbright-Hodes syndrome / Renal dysplasia-limb defects syndrome / Renal dysplasia-mesomelia-radiohumeral fusion syndrome", "ORPHA:3405": "Umbilical cord ulceration-intestinal atresia syndrome", "ORPHA:3406": "Ulerythema ophryogenesis", "ORPHA:3408": "Upington disease/Upington disease / Hip dysplasia-enchondromata-ecchondroma syndrome", "OMIM:191520": "UPINGTON DISEASE", "ORPHA:3409": "Urban-Rogers-Meyer syndrome / Intellectual disability-short stature-hand contractures-genital anomalies syndrome / Prader-Willi habitus-osteopenia-camptodactyly syndrome", "ORPHA:3411": "Double uterus-hemivagina-renal agenesis syndrome / Double uterus and obstructed hemivagina syndrome / HWW syndrome / Herlyn-Werner-Wunderlich syndrome / OHVIRA syndrome / Obstructed hemivagina and ipsilateral renal anomaly", "ORPHA:3412": "VACTERL with hydrocephalus/Vacterl association with hydrocephalus / Sujansky-Leonard syndrome", "OMIM:276950": "VACTERL ASSOCIATION WITH HYDROCEPHALUS", "ORPHA:3416": "Hyperostosis corticalis generalisata/Hyperostosis corticalis generalisata / Hyperphosphatasemia tarda / Van Buchem disease", "OMIM:239100": "VAN BUCHEM DISEASE; VBCH", "ORPHA:3417": "Van den Bosch syndrome/Van den bosch syndrome", "OMIM:314500": "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 / Benign paroxysmal peritonitis / Benign recurrent polyserositis / Familial paroxysmal polyserositis / Periodic disease", "OMIM:249100": "FAMILIAL MEDITERRANEAN FEVER; FMF", "ORPHA:34217": "Naxos disease/Naxos disease / KWWH type I / Keratoderma with woolly hair type I / Keratosis palmoplantaris with arrythmogenic cardiomyopathy / Naxos syndrome / Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy / Palmoplantar keratoderma with arrythmogenic cardiomyopathy", "OMIM:601214": "NAXOS DISEASE; NXD", "ORPHA:3424": "Velo-facial-skeletal syndrome", "ORPHA:3426": "Double outlet right ventricle / DORV", "ORPHA:3429": "Verloove Vanhorick-Brubakk syndrome/Cleft-Limb-Heart malformation syndrome / Cleft lip-limb and heart malformations syndrome", "OMIM:215850": "CLEFT-LIMB-HEART MALFORMATION SYNDROME", "ORPHA:343": "Hyperimmunoglobulinemia D with periodic fever/Hyper-Igd syndrome / HIDS / Hyper-IgD syndrome / Hyperimmunoglobinemia D with recurrent fever / Hyperimmunoglobulinemia D syndrome / Partial mevalonate kinase deficiency", "OMIM:260920": "HYPER-IgD SYNDROME; HIDS", "ORPHA:3433": "Microcephaly-brachydactyly-kyphoscoliosis syndrome / Viljoen-Kallis-Voges syndrome", "ORPHA:3434": "MMEP syndrome/Microphthalmia, syndromic 8 / MCOPS8 / Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome / Syndromic microphthalmia type 8 / Viljoen-Smart syndrome", "OMIM:601349": "MICROPHTHALMIA, SYNDROMIC 8; MCOPS8", "ORPHA:3437": "Vogt-Koyanagi-Harada disease / Uveomenigitic syndrome", "OMIM:223340": "DK PHOCOMELIA SYNDROME", "ORPHA:3440": "Waardenburg syndrome", "ORPHA:100078": "Ileal neuroendocrine tumor / Ileal neuroendocrine neoplasm", "ORPHA:137596": "Neurotrophic keratopathy / Neurotrophic keratitis", "ORPHA:3447": "Weaver syndrome/Weaver syndrome / EZH2-related overgrowth syndrome / Syndrome d'hypercroissance associé à EZH2", "OMIM:277590": "WEAVER SYNDROME; WVS", "ORPHA:3448": "Weaver-Williams syndrome", "ORPHA:3449": "Weill-Marchesani syndrome / Spherophakia-brachymorphia syndrome", "ORPHA:345": "Dissecting cellulitis of the scalp/Perifolliculitis capitis abscedens et suffodiens, familial", "OMIM:260910": "PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL", "ORPHA:3451": "Infantile spasms syndrome / Infantile epileptic spasms syndrome / IESS / West syndrome", "OMIM:601954": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7", "ORPHA:34515": "FKRP-related limb-girdle muscular dystrophy R9/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 / Autosomal recessive limb-girdle muscular dystrophy type 2I / FKRP-related LGMD R9 / LGMD due to FKRP deficiency / LGMD type 2I / LGMD2I / Limb-girdle muscular dystrophy due to FKRP deficiency / Limb-girdle muscular dystrophy type 2I", "OMIM:607155": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5", "ORPHA:34516": "DNAJB6-related limb-girdle muscular dystrophy D1/Muscular dystrophy, limb-girdle, type 1E / Autosomal dominant limb-girdle muscular dystrophy type 1D / DNAJB6-related LGMD D1 / LGMD type 1D / LGMD1D / Limb-girdle muscular dystrophy type 1D", "OMIM:603511": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1", "ORPHA:137599": "Herpes simplex virus stromal keratitis", "ORPHA:3452": "Whipple disease / Intestinal lipodystrophy", "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; HOMG2", "ORPHA:3453": "Autoimmune polyendocrinopathy type 1/Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia / APECED syndrome / APS type 1 / APS1 / Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome / Autoimmune polyendocrine syndrome type 1 / Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome / Autoimmune polyglandular syndrome type 1 / HAM syndrome / Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome / MEDAC syndrome / Multiple endocrine deficiency-Addison disease-candidiasis syndrome", "OMIM:240300": "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1", "ORPHA:3454": "Intellectual disability-developmental delay-contractures syndrome, X-linked intellectual disability, Miles-Carpenter type/Wieacker-Wolff syndrome / Foot contractures-muscle atrophy-oculomotor apraxia syndrome", "ORPHA:85283": "Intellectual disability-developmental delay-contractures syndrome, X-linked intellectual disability, Miles-Carpenter type/Wieacker-Wolff syndrome", "OMIM:314580": "WIEACKER-WOLFF SYNDROME; WRWF", "ORPHA:3455": "Wiedemann-Rautenstrauch syndrome/Wiedemann-Rautenstrauch syndrome / Neonatal progeroid syndrome", "OMIM:264090": "WIEDEMANN-RAUTENSTRAUCH SYNDROME; WDRTS", "ORPHA:3456": "Wildervanck syndrome/Wildervanck syndrome / Cervicooculoacoustic syndrome", "OMIM:314600": "WILDERVANCK SYNDROME", "ORPHA:34587": "Glycogen storage disease due to LAMP-2 deficiency/Danon disease / GSD due to LAMP-2 deficiency / GSD, type 2B / GSD, type IIb / Glycogen storage disease, type 2B / Glycogen storage disease, type IIb / Glycogenosis due to LAMP-2 deficiency / Lysosomal glycogen storage disease with normal acid maltase activity", "OMIM:300257": "DANON DISEASE", "ORPHA:3459": "Wilson-Turner syndrome/Wilson-Turner syndrome / WTS / X-linked intellectual disability-gynecomastia-obesity syndrome", "OMIM:309585": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE; WTS", "OMIM:604571": "MHC CLASS I DEFICIENCY 1; MHC1D1", "ORPHA:346": "Quinquaud folliculitis decalvans", "ORPHA:3463": "Wolfram syndrome/Wolfram syndrome 1 / Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome / Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome / DIDMOAD syndrome / Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome / Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome", "OMIM:222300": "WOLFRAM SYNDROME 1; WFS1", "ORPHA:3464": "Woodhouse-Sakati syndrome/Woodhouse-Sakati syndrome / Diabetes-hypogonadism-deafness-intellectual disability syndrome / Diabetes-hypogonadism-hearing loss-intellectual disability syndrome", "OMIM:241080": "WOODHOUSE-SAKATI SYNDROME; WDSKS", "ORPHA:3465": "Worster-Drought syndrome/Suprabulbar paresis, congenital / Congenital suprabulbar paresis", "OMIM:185480": "SUPRABULBAR PARESIS, CONGENITAL", "OMIM:194350": "WT LIMB-BLOOD SYNDROME", "ORPHA:3469": "XK aprosencephaly syndrome/Aprosencephaly syndrome / Garcia-Lurie syndrome / XK syndrome / XK-aprosencephaly", "OMIM:207770": "APROSENCEPHALY SYNDROME", "ORPHA:137605": "Legius syndrome/Legius syndrome / NF1-like syndrome / Neurofibromatosis 1-like syndrome / Nonmosaic LGSS / Nonmosaic Legius syndrome", "OMIM:611431": "LEGIUS SYNDROME; LGSS", "ORPHA:347": "Frasier syndrome/Frasier syndrome", "OMIM:136680": "FRASIER SYNDROME", "ORPHA:3471": "Young syndrome/Young syndrome / Azoospermia-sinopulmonary infections syndrome / Sinusitis-infertility syndrome", "OMIM:279000": "YOUNG SYNDROME", "ORPHA:3472": "Yunis-Varon syndrome/Yunis-Varon syndrome / Cleidocranial dysplasia-micrognathia-absent thumbs syndrome", "OMIM:216340": "YUNIS-VARON SYNDROME; YVS", "ORPHA:3473": "Zimmermann-Laband syndrome/Zimmermann-Laband syndrome 1 / Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome", "OMIM:135500": "ZIMMERMANN-LABAND SYNDROME 1; ZLS1", "ORPHA:3474": "CHIME syndrome/CHIME syndrome / Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome / Congenital disorder of glycosylation due to PIGL deficiency / Neuroectodermal dysplasia, CHIME type / Neuroectodermal syndrome, Zunich type / PIGL-CDG / Zunich-Kaye syndrome", "OMIM:280000": "COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND EAR ANOMALIES SYNDROME; CHIME", "ORPHA:348": "Fructose-1,6-bisphosphatase deficiency/Fructose-1,6-bisphosphatase deficiency / FBPase deficiency / Fructose-1,6-diphosphatase deficiency", "OMIM:229700": "FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D", "ORPHA:349": "Fucosidosis/Fucosidosis / Alpha-L-fucosidase deficiency", "OMIM:230000": "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 / Ketotic hyperglycinemia / Propionic aciduria / Propionyl-CoA carboxylase deficiency", "OMIM:606054": "PROPIONIC ACIDEMIA", "ORPHA:137608": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome / SOLAMEN syndrome", "ORPHA:35069": "Infantile neuroaxonal dystrophy/Neurodegeneration with brain iron accumulation 2A / PLAN / INAD / INAD1 / Phospholipase A2-associated neurodegeneration / Seitelberger disease", "OMIM:256600": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A", "ORPHA:35078": "T-B+ severe combined immunodeficiency due to JAK3 deficiency/Scid, autosomal recessive, T-Negative/b-Positive type / T-B+ SCID due to JAK3 deficiency", "OMIM:600802": "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE", "ORPHA:35093": "Non-syndromic sagittal craniosynostosis / Isolated sagittal craniosynostosis / Isolated scaphocephaly / Non-syndromic sagittal suture synostosis", "ORPHA:35099": "Non-syndromic bicoronal craniosynostosis / Isolated bicoronal craniosynostosis / Isolated brachycephaly / Non-syndromic bilateral coronal suture synostosis", "ORPHA:351": "Galactosialidosis/Galactosialidosis / Goldberg syndrome / Neuraminidase deficiency with beta-galactosidase deficiency", "OMIM:256540": "GALACTOSIALIDOSIS; GSL", "ORPHA:35107": "Desmosterolosis/DESMOSTEROLOSIS", "OMIM:602398": "DESMOSTEROLOSIS", "OMIM:266120": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 8; CNSHA8", "ORPHA:35122": "Congenital sucrase-isomaltase deficiency/Sucrase-isomaltase deficiency, congenital / CSID / Congenital sucrose intolerance / Disaccharide intolerance", "OMIM:222900": "SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID", "ORPHA:35125": "Epidermal nevus syndrome / Epidermal hamartoma syndrome", "ORPHA:35173": "X-linked dominant chondrodysplasia punctata/Chondrodysplasia punctata 2, X-linked dominant / CDPX2 / CDPXD / CPXD / Chondrodystrophia calcificans congenita / Conradi-Hünermann-Happle syndrome / X-linked chondrodysplasia punctata type 2", "OMIM:302960": "CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2", "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; MEGDEL", "OMIM:614457": "ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT; ISQMR", "ORPHA:352403": "Spectrin-associated autosomal recessive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 14 / Autosomal recessive spinocerebellar ataxia type 14 / Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome / SCAR14 / SPARCA / SPARCA1 / Spectrin-associated autosomal recessive cerebellar ataxia type 1", "OMIM:615386": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14", "ORPHA:352447": "Progressive external ophthalmoplegia-myopathy-emaciation syndrome/Mitochondrial DNA depletion syndrome 11 / Mitochondrial DNA maintenance syndrome due to MGME1 deficiency / PEO-myopathy-emaciation syndrome / mtDNA maintenance syndrome due to MGME1 deficiency", "OMIM:615084": "MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11", "ORPHA:352470": "DNA2-related mitochondrial DNA deletion syndrome/Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 / Mitochondrial DNA deletion syndrome with limb-girdle weakness / Mitochondrial DNA deletion syndrome with progressive myopathy / mtDNA deletion syndrome with limb-girdle weakness / mtDNA deletion syndrome with progressive myopathy", "OMIM:615156": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6; PEOA6", "ORPHA:352479": "ISPD-related limb-girdle muscular dystrophy R20/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 / Autosomal recessive limb-girdle muscular dystrophy type 2U / ISPD-related LGMD R20 / LGMD type 2U / LGMD2U / Limb-girdle muscular dystrophy type 2U", "OMIM:616052": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7; MDDGC7", "ORPHA:352490": "Autism spectrum disorder due to AUTS2 deficiency/Intellectual developmental disorder, autosomal dominant 26 / ASD due to AUTS2 deficiency / AUTS2 syndrome", "OMIM:615834": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26; MRD26", "ORPHA:352530": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome / Autosomal recessive intellectual disability due to TRAPPC9 deficiency", "OMIM:615395": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16", "ORPHA:352577": "Bainbridge-Ropers syndrome/Bainbridge-Ropers syndrome / Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome", "OMIM:615485": "BAINBRIDGE-ROPERS SYNDROME; BRPS", "OMIM:611556": "GLYCOGEN STORAGE DISEASE 0, MUSCLE; GSD0B", "ORPHA:352582": "Familial infantile myoclonic epilepsy/Myoclonic epilepsy, familial infantile / FIME / Familial infantile myoclonus epilepsy", "OMIM:605021": "MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME", "ORPHA:352596": "Progressive myoclonic epilepsy with dystonia / PMED / Progressive myoclonus epilepsy with dystonia", "ORPHA:352641": "Autosomal recessive cerebellar ataxia with late-onset spasticity / Autosomal recessive cerebellar ataxia due to GBA2 deficiency", "ORPHA:352649": "Brain dopamine-serotonin vesicular transport disease/Parkinsonism-Dystonia, infantile, 2", "OMIM:618049": "PARKINSONISM-DYSTONIA 2, INFANTILE-ONSET; PKDYS2", "OMIM:615491": "SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE; SPG79B", "OMIM:127600": "DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID", "OMIM:615225": "PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC", "OMIM:615185": "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F; CMTDIF", "ORPHA:352675": "X-linked Charcot-Marie-Tooth disease type 6/Charcot-Marie-Tooth disease, X-linked dominant, 6 / CMT6X / CMTX6", "OMIM:300905": "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6", "ORPHA:352682": "Cobblestone lissencephaly without muscular or ocular involvement/Lissencephaly 5 / Cobblestone lissencephaly without muscular or eye involvement / Lissencephaly type 2 without muscular or eye involvement / Lissencephaly type 2 without muscular or ocular involvement", "OMIM:615191": "LISSENCEPHALY 5; LIS5", "OMIM:615362": "CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE); CLN13", "OMIM:615139": "FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS", "OMIM:615147": "RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS", "ORPHA:352723": "Attenuated Chédiak-Higashi syndrome / Atypical Chédiak-Higashi syndrome", "OMIM:611926": "IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS", "OMIM:615179": "ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7", "ORPHA:353": "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5/Muscular dystrophy, limb-girdle, type 2C / Autosomal recessive limb-girdle muscular dystrophy type 2C / Gamma-sarcoglycan-related LGMD R5 / Gamma-sarcoglycanopathy / LGMD due to gamma-sarcoglycan deficiency / LGMD type 2C / LGMD2C / Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency / Limb-girdle muscular dystrophy type 2C", "OMIM:253700": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5", "OMIM:612949": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY; DEE39", "OMIM:105250": "AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1", "ORPHA:100079": "Neuroendocrine neoplasm of appendix / Appendiceal NEN / Appendiceal neuroendocrine neoplasm / NEN 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 1; RSTS1", "ORPHA:353281": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion/Chromosome 16p13.3 deletion syndrome", "OMIM:610543": "CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL", "ORPHA:353284": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency/Rubinstein-Taybi syndrome 2", "OMIM:613684": "RUBINSTEIN-TAYBI SYNDROME 2; RSTS2", "ORPHA:353298": "Roifman syndrome/Roifman syndrome / Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome", "OMIM:616651": "ROIFMAN SYNDROME; RFMN", "ORPHA:353327": "Congenital myasthenic syndromes with glycosylation defect", "ORPHA:354": "GM1 gangliosidosis / Beta-galactosidase-1 deficiency / GLB1 deficiency / Landing disease", "CCRD:31": "戈谢病/Gaucher disease; GD/Gaucher disease", "ORPHA:355": "戈谢病/Gaucher disease; GD/Gaucher disease / Acid beta-glucosidase deficiency / Glucocerebrosidase deficiency", "ORPHA:356": "Gerstmann-Straussler-Scheinker syndrome/Gerstmann-Straussler disease / Subacute spongiform encephalopathy, Gerstmann-Straussler type", "OMIM:137440": "GERSTMANN-STRAUSSLER DISEASE; GSD", "ORPHA:35612": "Nanophthalmos / Nanophthalmia", "ORPHA:35664": "ALDH18A1-related De Barsy syndrome/Cutis laxa, autosomal recessive, type IIIA / Delta-1-pyrroline 5-carboxylate synthetase deficiency / Neurocutaneous syndrome, Bicknell type / P5CS deficiency", "OMIM:219150": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A", "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 / CM-AVM", "ORPHA:90307": "Capillary malformation-arteriovenous malformation, Parkes Weber syndrome/Capillary malformation-arteriovenous malformation 1", "OMIM:608354": "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1", "ORPHA:35689": "Primary lateral sclerosis/Primary lateral sclerosis, adult / Adult-onset PLS / Adult-onset primary lateral sclerosis", "OMIM:611637": "PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1", "ORPHA:356961": "SLC35A2-CDG/Congenital disorder of glycosylation, type IIm / CDG syndrome type IIm / CDG-IIm / CDG2M / Congenital disorder of glycosylation type 2m / Congenital disorder of glycosylation type IIm", "OMIM:300896": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M", "OMIM:615182": "COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD", "ORPHA:356996": "ANK3-related intellectual disability-sleep disturbance syndrome/Intellectual developmental disorder, autosomal recessive 37", "OMIM:615493": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 37; MRT37", "ORPHA:357001": "19p13.13 microdeletion syndrome/Chromosome 19p13.13 deletion syndrome / Del(19)(p13.13) / Monosomy 19p13.13", "OMIM:613638": "CHROMOSOME 19p13.13 DELETION SYNDROME", "ORPHA:35701": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency/HMG-CoA synthase-2 deficiency / HMG-CoA synthase deficiency", "OMIM:605911": "3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY; HMGCS2D", "OMIM:612718": "CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3", "ORPHA:357043": "Amyotrophic lateral sclerosis type 4/Amyotrophic lateral sclerosis 4, juvenile / ALS4 / Distal hereditary motor neuropathy with upper motor neuron signs / dHMN with upper motor neuron signs", "OMIM:602433": "AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4", "ORPHA:35706": "Glutaric acidemia type 3/Glutaric aciduria III / Glutaric aciduria type 3 / Glutaryl-CoA oxidase deficiency", "OMIM:231690": "GLUTARIC ACIDURIA III; GA3", "OMIM:612940": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B", "ORPHA:357074": "Autosomal recessive cutis laxa type 2, classic type/Cutis laxa, autosomal recessive, type IIA / ARCL2, Debré type / ARCL2, classic type / Autosomal recessive cutis laxa type 2, Debré type", "OMIM:219200": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A", "OMIM:608643": "AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY; AADCD", "ORPHA:35710": "Glucose-galactose malabsorption/Glucose/galactose malabsorption / SGLT1 deficiency", "OMIM:606824": "GLUCOSE/GALACTOSE MALABSORPTION; GGM", "ORPHA:357154": "Oral submucous fibrosis / OSMF", "OMIM:602562": "MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA", "ORPHA:357175": "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome/Mental retardation, autosomal recessive 35", "OMIM:615162": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 35; MRT35", "OMIM:615206": "IMMUNODEFICIENCY 11A; IMD11A", "OMIM:609162": "CZECH DYSPLASIA", "OMIM:615207": "IMMUNODEFICIENCY 56; IMD56", "OMIM:615170": "WAHAB SYNDROME", "ORPHA:35737": "Morning glory disc anomaly / Ectasic coloboma / Morning glory syndrome", "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 SYNDROME; GTLMNS", "ORPHA:35858": "Imerslund-Gräsbeck syndrome/Megaloblastic anemia 1 / Familial megaloblastic anemia / Selective cobalamin malabsorption with proteinuria", "OMIM:261100": "IMERSLUND-GRASBECK SYNDROME 1; IGS1", "ORPHA:35878": "Hyperinsulinism-hyperammonemia syndrome/Hyperinsulinemic hypoglycemia, familial, 6 / HI/HA syndrome", "OMIM:606762": "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6", "OMIM:609060": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1", "ORPHA:36": "Acrocallosal syndrome/Acrocallosal syndrome / ACS", "OMIM:200990": "ACROCALLOSAL SYNDROME; ACLS", "ORPHA:360": "Glioblastoma / GBM / Glioblastoma multiforme", "ORPHA:361": "Familial glucocorticoid deficiency/Glucocorticoid deficiency 1", "OMIM:202200": "GLUCOCORTICOID DEFICIENCY 1; GCCD1", "ORPHA:137686": "Asherman syndrome", "ORPHA:36237": "Bullous impetigo", "ORPHA:36258": "Buerger disease/Buerger disease / Thromboangiitis obliterans", "OMIM:211480": "BUERGER DISEASE", "OMIM:221200": "DEAFNESS AND MYOPIA; DFNMYP", "ORPHA:363400": "Severe neurodegenerative syndrome with lipodystrophy/Encephalopathy, progressive, with or without lipodystrophy / Severe neurodegenerative syndrome due to BSCL2 deficiency", "OMIM:615924": "ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD", "OMIM:615368": "LETHAL CONGENITAL CONTRACTURE SYNDROME 5; LCCS5", "OMIM:615281": "HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL", "ORPHA:363417": "Temtamy preaxial brachydactyly syndrome/Temtamy preaxial brachydactyly syndrome", "OMIM:605282": "TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS", "OMIM:615330": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3", "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 / Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency / SCAR18", "OMIM:616204": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18", "ORPHA:363444": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome/Beaulieu-Boycott-Innes syndrome / BBIS", "OMIM:613680": "BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS", "ORPHA:363454": "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy/Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant / BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures / SMALED2", "OMIM:615290": "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT; SMALED2A", "OMIM:273300": "TESTICULAR GERM CELL TUMOR; TGCT", "ORPHA:100080": "Neuroendocrine tumor of the colon / Colonic NET / NET of the colon / Neuroendocrine neoplasm of the colon", "ORPHA:137754": "Neurological conditions associated with aminoacylase 1 deficiency/Aminoacylase 1 deficiency / ACY1D / N-acyl-L-amino acid amidohydrolase deficiency / N-acyl-aliphatic-L-amino acid amidohydrolase deficiency", "OMIM:609924": "AMINOACYLASE 1 DEFICIENCY; ACY1D", "ORPHA:363523": "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome/Shaheen syndrome", "OMIM:615328": "SHAHEEN SYNDROME; SHNS", "ORPHA:363528": "Intellectual disability-strabismus syndrome/Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", "OMIM:615286": "NEURODEVELOPMENTAL DISORDER WITH BRAIN ABNORMALITIES, POOR GROWTH, AND DYSMORPHIC FACIES; NEDBGF", "OMIM:615651": "LEUKOENCEPHALOPATHY WITH ATAXIA; LKPAT", "OMIM:609821": "BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8", "OMIM:607598": "LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2", "ORPHA:363611": "CTCF-related neurodevelopmental disorder/Intellectual developmental disorder, autosomal dominant 21", "OMIM:615502": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21; MRD21", "ORPHA:363618": "LMNA-related cardiocutaneous progeria syndrome / LCPS", "ORPHA:363623": "GMPPB-related limb-girdle muscular dystrophy R19/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 / Autosomal recessive limb-girdle muscular dystrophy type 2T / GMPPB-related LGMD R19 / LGMD type 2T / LGMD2T / Limb-girdle muscular dystrophy type 2T", "OMIM:615352": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14", "OMIM:615381": "MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME; MDPL", "ORPHA:363654": "X-linked parkinsonism-spasticity syndrome/Parkinsonism with spasticity, X-linked / XPDS", "OMIM:300911": "PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS", "OMIM:601812": "PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT", "ORPHA:36367": "Distal monosomy 1q / Distal deletion 1q syndrome / Monosomy 1qter / Telomeric deletion 1q", "OMIM:611369": "LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3", "ORPHA:363686": "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome/Mental retardation, autosomal dominant 18", "OMIM:615074": "GAND SYNDROME; GAND", "OMIM:613845": "HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS", "ORPHA:363700": "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion/Neurofibromatosis, type I / Von Recklinghausen disease due to NF1 mutation or intragenic deletion", "OMIM:162200": "NEUROFIBROMATOSIS, TYPE I; NF1", "ORPHA:363705": "Craniofaciofrontodigital syndrome / Cantu craniofaciofrontodigital syndrome", "ORPHA:363710": "Spinocerebellar ataxia type 37/Spinocerebellar ataxia 37 / SCA37 / Spinocerebellar ataxia with altered vertical eye movements", "OMIM:615945": "SPINOCEREBELLAR ATAXIA 37; SCA37", "OMIM:300835": "ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES; XLANP", "ORPHA:363741": "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome/Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome", "OMIM:601794": "COLOBOMA-OBESITY-HYPOGENITALISM-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME", "ORPHA:36382": "Familial cervical artery dissection / OBSOLETE : Familial cervical artery dissection / OBSOLETE: Familial CAD / OBSOLETE: Hereditary CAD / OBSOLETE: Hereditary cervical artery dissection", "ORPHA:36387": "Generalized epilepsy with febrile seizures-plus/Generalized epilepsy with febrile seizures plus, type 1 / Genetic epilepsy with febrile seizure plus / GEFS+", "OMIM:604233": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1", "ORPHA:363958": "17q21.31 microdeletion syndrome, Koolen-De Vries syndrome/Koolen-De Vries syndrome / Del(17)(q21.31) / Monosomy 17q21.31", "ORPHA:96169": "17q21.31 microdeletion syndrome, Koolen-De Vries syndrome/Koolen-De Vries syndrome / KdVS", "OMIM:610443": "KOOLEN-DE VRIES SYNDROME; KDVS", "ORPHA:36397": "Adiposis dolorosa/Adiposis dolorosa / Adiposalgia / Adipose tissue rheumatism / Dercum disease / Lipomatosis dolorosa", "OMIM:103200": "ADIPOSIS DOLOROSA", "OMIM:613563": "NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL", "OMIM:615284": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3; CMT4B3", "OMIM:228980": "FLECK RETINA, FAMILIAL BENIGN; FRFB", "OMIM:613195": "WEILL-MARCHESANI SYNDROME 4; WMS4", "OMIM:236750": "HYDROPS FETALIS, NONIMMUNE; NIHF", "ORPHA:364": "Glycogen storage disease due to glucose-6-phosphatase deficiency / G6P deficiency / GSD due to G6P deficiency / GSD type 1 / GSD type I / Glycogen storage disease due to G6P deficiency / Glycogen storage disease type 1 / Glycogen storage disease type I / Glycogenosis type 1 / Glycogenosis type I / Hepatorenal glycogenosis / Von Gierke disease", "ORPHA:364028": "X-linked intellectual disability due to GRIA3 mutations/Mental retardation, X-linked 94", "OMIM:300699": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE; MRXSW", "ORPHA:36412": "Hypocomplementemic urticarial vasculitis / Anti-C1q vasculitis / Mac Duffie hypocomplementemic urticarial vasculitis / Mac Duffie syndrome / McDuffie hypocomplementemic urticarial vasculitis / McDuffie syndrome", "ORPHA:36426": "Stevens-Johnson syndrome / Dermatostomatitis, Stevens Johnson type", "ORPHA:137817": "Arachnoiditis / Adhesive arachnoiditis / Chronic 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 / Alpha-1,4-glucosidase acid deficiency / GSD due to acid maltase deficiency / GSD type 2 / GSD type II / Glycogen storage disease type 2 / Glycogen storage disease type II / Glycogenosis due to acid maltase deficiency / Glycogenosis type 2 / Glycogenosis type II / Pompe disease", "OMIM:232300": "POMPE DISEASE", "ORPHA:366": "Glycogen storage disease due to glycogen debranching enzyme deficiency/Glycogen storage disease III / Amylo-1,6-glucosidase deficiency / Cori disease / Cori-Forbes disease / GDE deficiency / GSD due to glycogen debranching enzyme deficiency / GSD type 3 / GSDIII / Glycogen storage disease type 3 / Glycogen storage disease type III / Glycogenosis due to glycogen debranching enzyme deficiency / Glycogenosis type 3 / Glycogenosis type III / Limit dextrinosis", "OMIM:232400": "GLYCOGEN STORAGE DISEASE III; GSD3", "ORPHA:367": "Glycogen storage disease due to glycogen branching enzyme deficiency / Amylopectinosis / Andersen disease / GSD due to glycogen branching enzyme deficiency / GSD type 4 / GSD type IV / Glycogen storage disease type 4 / Glycogen storage disease type IV / Glycogenosis due to glycogen branching enzyme deficiency / Glycogenosis type 4 / Glycogenosis type IV", "ORPHA:368": "Glycogen storage disease due to muscle glycogen phosphorylase deficiency/Glycogen storage disease V / GSD due to muscle glycogen phosphorylase deficiency / GSD type 5 / GSD type V / Glycogen storage disease type 5 / Glycogen storage disease type V / Glycogenosis due to muscle glycogen phosphorylase deficiency / Glycogenosis type 5 / Glycogenosis type V / McArdle disease / Myophosphorylase deficiency", "OMIM:232600": "GLYCOGEN STORAGE DISEASE V; GSD5", "ORPHA:36899": "Myoclonus-dystonia syndrome / Alcohol-responsive dystonia / Hereditary essential myoclonus / Myoclonic dystonia", "ORPHA:369": "Glycogen storage disease due to liver glycogen phosphorylase deficiency/Glycogen storage disease VI / GSD due to liver glycogen phosphorylase deficiency / GSD type 6 / GSD type VI / Glycogen storage disease type 6 / Glycogen storage disease type VI / Glycogenosis due to liver glycogen phosphorylase deficiency / Glycogenosis type 6 / Glycogenosis type VI / Hepatic glycogen phosphorylase deficiency / Hepatic phosphorylase deficiency / Hers disease / Liver glycogen phosphorylase deficiency", "OMIM:232700": "GLYCOGEN STORAGE DISEASE VI; GSD6", "ORPHA:36913": "Autoimmune hypoparathyroidism", "ORPHA:369837": "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome/Multiple congenital anomalies-hypotonia-seizures syndrome 3 / Congenital disorder of glycosylation due to PIGT deficiency / MCAHS type 3 / Multiple congenital anomalies-hypotonia-seizures syndrome type 3 / PIGT-CDG", "OMIM:615398": "MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3", "ORPHA:369840": "TRAPPC11-related limb-girdle muscular dystrophy R18/Muscular dystrophy, limb-girdle, autosomal recessive 18 / Autosomal recessive limb-girdle muscular dystrophy type 2S / LGMD type 2S / LGMD2S / Limb-girdle muscular dystrophy type 2S / TRAPPC11-related LGMD R18", "OMIM:615356": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18; LGMDR18", "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 / OPHN1 syndrome / Oligophrenin-1 syndrome", "OMIM:300486": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE; MRXSBL", "OMIM:615285": "NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5", "OMIM:616084": "SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD", "OMIM:615376": "CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC", "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 / MED13L-related intellectual disability syndrome", "OMIM:616789": "IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD", "OMIM:615471": "MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13", "OMIM:615440": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17", "OMIM:615809": "PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9", "ORPHA:137834": "Frank-Ter Haar syndrome/Frank-ter Haar syndrome", "OMIM:249420": "FRANK-TER HAAR SYNDROME; FTHS", "ORPHA:369929": "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome/Primary aldosteronism, seizures, and neurologic abnormalities", "OMIM:615474": "PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA", "ORPHA:369939": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome/Deafness, dystonia, and cerebral hypomyelination / Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome", "OMIM:300475": "DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH", "ORPHA:369950": "Intellectual disability-seizures-macrocephaly-obesity syndrome / Der(8)t(8;12)", "OMIM:614857": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ", "OMIM:309541": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE; MAHCX", "OMIM:615458": "MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS; MMCAT", "OMIM:615508": "ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE; EPKHE", "ORPHA:100081": "Neuroendocrine tumor of the rectum / NET of the rectum / Rectal NET / Rectal neuroendocrine tumor", "ORPHA:37": "Acrodermatitis enteropathica/Acrodermatitis enteropathica, Zinc-Deficiency type / AEZ / Acrodermatitis enteropathica, zinc deficiency type / Inherited zinc deficiency", "OMIM:201100": "ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ", "ORPHA:370": "Glycogen storage disease due to phosphorylase kinase deficiency / GSD due to phosphorylase kinase deficiency / GSD type 9 / GSD type IX / Glycogen storage disease due to PhK deficiency / Glycogen storage disease type 9 / Glycogen storage disease type IX / Glycogenosis due to phosphorylase kinase deficiency / Glycogenosis type 9 / Glycogenosis type IX / Gycogenosis due to PhK deficiency", "ORPHA:370022": "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome/Poretti-Boltshauser syndrome", "OMIM:615960": "PORETTI-BOLTSHAUSER SYNDROME; PTBHS", "ORPHA:137867": "Madras motor neuron disease / MMND", "ORPHA:370079": "Proximal 16p11.2 microduplication syndrome / Proximal dup(16)(p11.2) / Proximal trisomy 16p11.2", "OMIM:615438": "INFANTILE LIVER FAILURE SYNDROME 1; ILFS1", "ORPHA:370091": "Oculocutaneous albinism type 5/Albinism, oculocutaneous, type V / OCA5", "OMIM:615312": "ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5", "ORPHA:370097": "Oculocutaneous albinism type 6 / OCA6", "ORPHA:370103": "Primary dystonia, DYT17 type/Dystonia 17, torsion, autosomal recessive", "OMIM:612406": "DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17", "ORPHA:137888": "Auriculocondylar syndrome / Question mark ear syndrome", "ORPHA:370348": "Peripheral primitive neuroectodermal tumor / PPNET / Peripheral PNET / Peripheral neuroepithelioma", "ORPHA:37042": "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome/Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked / Autoimmune enteropathy type 1 / IPEX", "OMIM:304790": "IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX", "ORPHA:370921": "STT3A-CDG/Congenital disorder of glycosylation, type Iw / CDG syndrome type Iw / CDG-Iw / CDG1W / Congenital disorder of glycosylation type 1w / Congenital disorder of glycosylation type Iw", "OMIM:615596": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE; CDG1WAR", "ORPHA:370924": "STT3B-CDG/Congenital disorder of glycosylation, type Ix / CDG syndrome type Ix / CDG-Ix / CDG1X / Carbohydrate deficient glycoprotein syndrome type Ix / Congenital disorder of glycosylation type 1x / Congenital disorder of glycosylation type Ix", "OMIM:615597": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X", "OMIM:243060": "SPERMATOGENIC FAILURE 5; SPGF5", "ORPHA:370927": "SSR4-CDG/Congenital disorder of glycosylation, type Iy / CDG syndrome type Iy / CDG-Iy / CDG1Y / Carbohydrate deficient glycoprotein syndrome type Iy / Congenital disorder of glycosylation type 1y / Congenital disorder of glycosylation type Iy", "OMIM:300934": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y", "ORPHA:370930": "XYLT1-CDG", "ORPHA:370943": "Autism spectrum disorder-epilepsy-arthrogryposis syndrome/Arthrogryposis, mental retardation, and seizures / SLC35A3-CDG", "OMIM:615553": "ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; AMRS", "ORPHA:370959": "Congenital muscular dystrophy with cerebellar involvement / CMD with cerebellar involvement / CMD-CRB", "ORPHA:370968": "Congenital muscular dystrophy with intellectual disability / CMD with intellectual disability / CMD-MR", "ORPHA:370980": "Congenital muscular dystrophy without intellectual disability / CMD without intellectual disability / CMD-no MR / Congenital muscular dystrophy-dystroglycanopathy 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 / LBSL / Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome", "OMIM:611105": "LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL", "ORPHA:371": "Glycogen storage disease due to muscle phosphofructokinase deficiency/Glycogen storage disease VII / GSD due to muscle phosphofructokinase deficiency / GSD type 7 / GSD type VII / Glycogen storage disease type 7 / Glycogen storage disease type VII / Glycogenosis due to muscle phosphofructokinase deficiency / Glycogenosis type 7 / Glycogenosis type VII / Tarui disease", "OMIM:232800": "GLYCOGEN STORAGE DISEASE VII; GSD7", "ORPHA:137902": "Isolated optic nerve hypoplasia/aplasia/Optic nerve hypoplasia / OBSOLETE: Isolated optic nerve hypoplasia/aplasia", "OMIM:165550": "OPTIC NERVE HYPOPLASIA, BILATERAL", "ORPHA:371428": "Multicentric osteolysis-nodulosis-arthropathy spectrum / Torg-Winchester syndrome / MONA spectrum", "ORPHA:37202": "Interstitial cystitis / Bladder pain syndrome / IC/BPS / IC/PBS / Interstitial cystitis/bladder pain syndrome / Interstitial cystitis/painful bladder syndrome / Painful bladder syndrome", "ORPHA:373": "Simpson-Golabi-Behmel syndrome/Simpson-Golabi-Behmel syndrome, type 1 / DGSX / Golabi-Rosen syndrome / SDYS / SGBS / SGBS1 / Simpson dysmorphia syndrome / Simpson-Golabi-Behmel syndrome type 1 / X-linked dysplasia gigantism syndrome", "OMIM:312870": "SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1", "OMIM:164210": "CRANIOFACIAL MICROSOMIA 1; CFM1", "ORPHA:375": "Anti-glomerular basement membrane disease/Goodpasture syndrome / Anti-GBM syndrome", "OMIM:233450": "GOODPASTURE SYNDROME", "ORPHA:37553": "Andersen-Tawil syndrome/Andersen cardiodysrhythmic periodic paralysis / Andersen syndrome / LQT7 / Long QT syndrome type 7", "OMIM:170390": "ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS", "OMIM:611719": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5", "ORPHA:376": "Gordon syndrome/Arthrogryposis, distal, type 3 / Camptodactyly-cleft palate-clubfoot syndrome / Distal arthrogryposis type 3 / Distal arthrogryposis type IIA", "OMIM:114300": "ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3", "ORPHA:37612": "Episodic ataxia type 1/Episodic ataxia, type 1 / Episodic ataxia with myokymia", "OMIM:160120": "EPISODIC ATAXIA, TYPE 1; EA1", "ORPHA:377": "Gorlin syndrome/Basal cell nevus syndrome / Gorlin-Goltz syndrome / NBCCS / Nevoid basal cell carcinoma syndrome", "OMIM:109400": "BASAL CELL NEVUS SYNDROME 1; BCNS1", "ORPHA:37748": "Schnitzler syndrome / Chronic urticaria with gammopathy / Chronic urticaria with macroglobulinemia", "ORPHA:379": "Chronic granulomatous disease / CGD / Chronic septic granulomatosis", "ORPHA:38": "Acrokeratoelastoidosis of Costa/ACROKERATOELASTOIDOSIS / AKE / PPKP3 / Punctate palmoplantar hyperkeratosis type 3 / Punctate palmoplantar keratoderma type 3", "OMIM:101850": "PALMOPLANTAR KERATODERMA, PUNCTATE TYPE III; PPKP3", "ORPHA:380": "Greig cephalopolysyndactyly syndrome/Greig cephalopolysyndactyly syndrome / GCPS", "OMIM:175700": "GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS", "ORPHA:381": "Griscelli syndrome / Chédiak-Higashi-like syndrome / Griscelli-Pruniéras syndrome / Partial albinism-immunodeficiency syndrome", "ORPHA:382": "Guanidinoacetate methyltransferase deficiency/Cerebral creatine deficiency syndrome 2 / GAMT deficiency", "OMIM:612736": "CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2", "OMIM:304400": "DEAFNESS, X-LINKED 2; DFNX2", "ORPHA:384": "Huriez syndrome/Huriez syndrome / Palmoplantar hyperkeratosis-sclerodactyly syndrome / Palmoplantar keratoderma-sclerodactyly syndrome / Scleroatrophic syndrome / Sclerotylosis", "OMIM:181600": "HURIEZ SYNDROME; HRZ", "ORPHA:385": "Neurodegeneration with brain iron accumulation / NBIA", "ORPHA:388": "Hirschsprung disease / Aganglionic megacolon / Colonic aganglionosis / Congenital intestinal aganglionosis / HSCR", "OMIM:222748": "DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD", "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 / Combined immunodeficiency with hypereosinophilia", "OMIM:603554": "OMENN SYNDROME", "ORPHA:137914": "Choanal atresia", "ORPHA:39044": "Uveal melanoma/Melanoma, uveal / Choroid melanoma / Choroidal and ciliary body melanomas / Melanoma of choroid / Melanoma of uvea", "OMIM:155720": "MELANOMA, UVEAL", "ORPHA:391": "Classic Hodgkin lymphoma/Lymphoma, hodgkin / Classic Hodgkin disease", "OMIM:236000": "LYMPHOMA, HODGKIN, CLASSIC; CHL", "ORPHA:391307": "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome/Mental retardation, autosomal recessive 39", "OMIM:615541": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39; MRT39", "OMIM:613796": "IMMUNODEFICIENCY 31B; IMD31B", "OMIM:302030": "CALVARIAL HYPEROSTOSIS", "OMIM:615578": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18", "ORPHA:100082": "Neuroendocrine tumor of anal canal / NET of anal canal", "OMIM:616684": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K; CMT4K", "ORPHA:391372": "Intellectual disability-severe speech delay-mild dysmorphism syndrome/Mental retardation with language impairment and with or without autistic features / FOXP1 Syndrome / FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome", "OMIM:613670": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES; IDDLA", "OMIM:615574": "ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD", "OMIM:615040": "EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1", "OMIM:615552": "EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3", "OMIM:615548": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7", "ORPHA:391411": "Atypical juvenile parkinsonism", "ORPHA:391417": "HSD10 disease/HSD10 mitochondrial disease / 2-methyl-3-hydroxybutyric aciduria / 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency / HSD10 deficiency / MHBD deficiency", "OMIM:300438": "HSD10 MITOCHONDRIAL DISEASE; HSD10MD", "ORPHA:391474": "Frontorhiny/Frontonasal dysplasia 1 / ALX3-related frontonasal dysplasia / Frontonasal dysplasia type 1 / Isolated median cleft face syndrome", "OMIM:136760": "FRONTONASAL DYSPLASIA 1; FND1", "ORPHA:391487": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome/Immunodeficiency 31C / STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome", "OMIM:614162": "IMMUNODEFICIENCY 31C; IMD31C", "ORPHA:391641": "Feingold syndrome type 1/Feingold syndrome 1 / Brunner-Winter syndrome type 1 / Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 / FGLDS1 / FS1 / MMT type 1 / MODED syndrome type 1 / Microcephaly-digital anomalies-normal intelligence syndrome type 1 / Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 / Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 / Oculo-digito-esophageal-duodenal syndrome type 1", "OMIM:164280": "FEINGOLD SYNDROME 1; FGLDS1", "ORPHA:391646": "Feingold syndrome type 2/Feingold syndrome 2 / Brachydactyly-short stature-microcephaly syndrome / Brunner-Winter syndrome type 2 / FGLDS2 / FS2 / MMT type 2 / Microcephaly-digital anomalies-normal intelligence syndrome type 2 / Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2", "OMIM:614326": "FEINGOLD SYNDROME 2; FGLDS2", "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 / HoFH", "OMIM:614800": "SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH", "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 / Atriodigital dysplasia type 1 / HOS / Heart-hand syndrome type 1", "OMIM:142900": "HOLT-ORAM SYNDROME; HOS", "ORPHA:393": "46,XX testicular disorder of sex development/46XX sex reversal 1 / 46,XX testicular difference of sex development / 46,XX testicular DSD / De la Chapelle syndrome / XX, male syndrome", "OMIM:400045": "46,XX SEX REVERSAL 1; SRXX1", "ORPHA:394": "Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency / CBS-deficient HCU / Classical homocystinuria / Cystathionine beta-synthase deficiency / Cystathionine beta-synthase-deficient homocystinuria / Homocystinuria due to CBS deficiency", "OMIM:236200": "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 / MTHFR deficiency / Methylene tetrahydrofolate reductase deficiency", "OMIM:236250": "HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY", "ORPHA:396": "Chronic hiccup", "ORPHA:397": "Giant cell arteritis/Temporal arteritis / Horton disease", "OMIM:187360": "TEMPORAL ARTERITIS", "ORPHA:397612": "Macrocephaly-developmental delay syndrome/Intellectual developmental disorder, autosomal recessive 41", "OMIM:615637": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41; MRT41", "OMIM:615703": "MORBID OBESITY AND SPERMATOGENIC FAILURE; MOSPGF", "OMIM:609218": "FOVEAL HYPOPLASIA 2; FVH2", "OMIM:602471": "SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES; SAMS", "ORPHA:397685": "Familial hyperprolactinemia/Hyperprolactinemia / Familial isolated prolactin receptor deficiency", "OMIM:615555": "HYPERPROLACTINEMIA; HPRL", "ORPHA:397695": "3q27.3 microdeletion syndrome / Del(3)(q27.3)", "ORPHA:397709": "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome/Spinocerebellar ataxia, autosomal recessive 20 / Autosomal recessive spinocerebellar ataxia type 20 / Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome / SCAR20", "OMIM:616354": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20", "ORPHA:137935": "Laryngotracheal angioma / Airway infantile hemangioma", "ORPHA:397715": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy / JBTS with JATD / Joubert syndrome with JATD", "ORPHA:397725": "COASY protein-associated neurodegeneration/Neurodegeneration with brain iron accumulation 6 / CoPAN / NBIA6 / Neurodegeneration with brain iron accumulation due to COASY mutation", "OMIM:615643": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6", "OMIM:616280": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U", "ORPHA:397744": "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome/Peripheral neuropathy, myopathy, hoarseness, and hearing loss / Peripheral neuropathy-myopathy-hoarseness-deafness syndrome", "OMIM:614369": "PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH", "OMIM:616079": "RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES; RDGCA", "OMIM:615592": "IMMUNODEFICIENCY 15B; IMD15B", "ORPHA:138": "CHARGE syndrome/Charge syndrome / CHARGE association / Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome / Hall-Hittner syndrome", "OMIM:214800": "CHARGE SYNDROME", "OMIM:615709": "SACRAL AGENESIS WITH VERTEBRAL ANOMALIES; SAVA", "ORPHA:397933": "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome / IQSEC2-related syndromic intellectual disability", "ORPHA:397941": "MAN1B1-CDG / Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency / Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency / Congenital disorder of glycosylation type II due to MAN1B1 deficiency / Intellectual disability-truncal obesity syndrome", "ORPHA:397946": "Autosomal spastic paraplegia type 58/Spastic ataxia 2, autosomal recessive / Autosomal spastic ataxia type 2 / SPAX2 / SPG58", "OMIM:611302": "SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2", "ORPHA:397951": "Microcephaly-thin corpus callosum-intellectual disability syndrome/Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity", "OMIM:615599": "NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY; NEDFCF", "OMIM:615387": "IMMUNODEFICIENCY 7; IMD7", "OMIM:615468": "IMMUNODEFICIENCY 12; IMD12", "OMIM:615490": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R", "ORPHA:397973": "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome/Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies / MOMES syndrome", "OMIM:606772": "IMPAIRED INTELLECTUAL DEVELOPMENT, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES", "ORPHA:1380": "Cataract-nephropathy-encephalopathy syndrome/Crome syndrome", "OMIM:218900": "CROME SYNDROME", "ORPHA:398069": "MAGEL2-related Prader-Willi-like syndrome/Schaaf-Yang syndrome / SYS", "OMIM:615547": "SCHAAF-YANG SYNDROME; SHFYNG", "ORPHA:398073": "Prader-Willi-like syndrome / PWS-like", "OMIM:185020": "CRYOHYDROCYTOSIS; CHC", "ORPHA:39812": "Graft versus host disease / GvHD", "ORPHA:398124": "Neonatal lupus erythematosus", "ORPHA:398156": "Oculoauriculofrontonasal syndrome / OAFNS", "ORPHA:398173": "Focal facial dermal dysplasia type II / FFDD type II / FFDD2 / Focal facial dermal dysplasia 2, Brauer-Setleis type", "ORPHA:398189": "Focal facial dermal dysplasia type IV/Focal facial dermal dysplasia 4 / FFDD type IV / FFDD4 / Focal facial preauricular dysplasia", "OMIM:614974": "FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD4", "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 / Huntington chorea", "OMIM:143100": "HUNTINGTON DISEASE; HD", "ORPHA:399058": "Alpha-B crystallin-related late-onset myopathy/Myopathy, myofibrillar, 2, mfm2 / Alpha-B crystallin-related late-onset distal myopathy / Late-onset distal crystallinopathy", "OMIM:608810": "MYOPATHY, MYOFIBRILLAR, 2A, ADULT-ONSET; MFM2A", "ORPHA:399081": "KLHL9-related early-onset distal myopathy", "ORPHA:399086": "Finnish upper limb-onset distal myopathy/Myopathy, distal 3 / Distal myopathy type 3 / MPD3", "OMIM:610099": "MYOPATHY, DISTAL, 3; MPD3", "ORPHA:100083": "Laryngeal neuroendocrine tumor", "ORPHA:399096": "Distal anoctaminopathy/Miyoshi muscular dystrophy 3 / MMD3 / Miyoshi muscular dystrophy type 3", "OMIM:613319": "MIYOSHI MUSCULAR DYSTROPHY 3; MMD3", "ORPHA:399103": "Distal nebulin myopathy / Nebulin-related early-onset distal myopathy", "ORPHA:399180": "Secondary non-traumatic avascular necrosis / Secondary non-traumatic AVN / Secondary non-traumatic osteonecrosis", "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 1; AMD1", "ORPHA:1381": "Cataract-intellectual disability-anal atresia-urinary defects syndrome / Karandikar-Maria-Kamble syndrome", "OMIM:615715": "BONE MARROW FAILURE SYNDROME 2; BMFS2", "ORPHA:401768": "Proximal myopathy with extrapyramidal signs/Myopathy with extrapyramidal signs", "OMIM:615673": "MYOPATHY WITH EXTRAPYRAMIDAL SIGNS; MPXPS", "ORPHA:401777": "Optic atrophy-intellectual disability syndrome/Bosch-Boonstra-Schaaf optic atrophy syndrome / BBSOAS", "OMIM:615722": "BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS", "ORPHA:1383": "Cataract-deafness-hypogonadism syndrome / Cataract-hearing loss-hypogonadism syndrome / Schaap-Taylor-Baraitser syndrome", "ORPHA:401780": "Autosomal recessive spastic paraplegia type 61/Spastic paraplegia 61, autosomal recessive / SPG61", "OMIM:615685": "SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE; SPG61", "ORPHA:401785": "Autosomal recessive spastic paraplegia type 62/Spastic paraplegia 62, autosomal recessive / SPG62", "OMIM:615681": "SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62", "ORPHA:401795": "Autosomal recessive spastic paraplegia type 59 / SPG59", "ORPHA:401800": "Autosomal recessive spastic paraplegia type 60 / SPG60", "ORPHA:401805": "Autosomal recessive spastic paraplegia type 63/Spastic paraplegia 63, autosomal recessive / SPG63", "OMIM:615686": "SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63", "ORPHA:401810": "Autosomal recessive spastic paraplegia type 64/Spastic paraplegia 64, autosomal recessive / SPG64", "OMIM:615683": "SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE; SPG64", "ORPHA:401815": "Autosomal recessive spastic paraplegia type 66 / SPG66", "ORPHA:401820": "Autosomal recessive spastic paraplegia type 67 / SPG67", "ORPHA:401830": "Autosomal recessive spastic paraplegia type 69 / SPG69", "ORPHA:401835": "Autosomal recessive spastic paraplegia type 70 / SPG70", "ORPHA:1387": "Cataract-intellectual disability-hypogonadism syndrome/Martsolf syndrome 1", "OMIM:212720": "MARTSOLF SYNDROME 1; MARTS1", "ORPHA:401840": "Autosomal recessive spastic paraplegia type 71 / SPG71", "ORPHA:401849": "Autosomal spastic paraplegia type 72/Spastic paraplegia 72, autosomal recessive / SPG72", "OMIM:615625": "SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT; SPG72A", "OMIM:614462": "HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; HGCLAS", "OMIM:616299": "LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D", "ORPHA:401866": "Childhood-onset spasticity with hyperglycinemia/Spasticity, childhood-onset, with hyperglycinemia / Childhood-onset spasticity with variant non-ketotic hyperglycinemia / Spasticity-ataxia-gait anomalies syndrome", "OMIM:616859": "SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA; SPAHGC", "OMIM:605711": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1", "OMIM:614299": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2", "ORPHA:401901": "Huntington disease-like syndrome due to C9ORF72 expansions / C9ORF72-related Huntington disease phenocopy / C9ORF72-related Huntington disease-like syndrome / Huntington disease phenocopy due to C9ORF72 expansions", "ORPHA:401911": "AXIN2-related attenuated familial adenomatous polyposis / AXIN2-related AFAP / AXIN2-related attenuated FAP / AXIN2-related attenuated familial polyposis coli", "ORPHA:1388": "Catel-Manzke syndrome/Catel-Manzke syndrome / Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome / Index finger anomaly-Pierre Robin syndrome / Micrognathia digital syndrome / Palatodigital syndrome, Catel-Manzke type / Pierre Robin sequence-hyperphalangy-clinodactyly syndrome / Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome", "OMIM:616145": "CATEL-MANZKE SYNDROME; CATMANS", "ORPHA:401942": "Familial median cleft of the upper and lower lips/Orofacial cleft 14", "OMIM:615892": "OROFACIAL CLEFT 14; OFC14", "ORPHA:401945": "Moyamoya disease with early-onset achalasia/Moyamoya disease 6 with achalasia", "OMIM:615750": "MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA; MYMY6", "OMIM:615751": "CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD", "ORPHA:401953": "Episodic ataxia with slurred speech/Episodic ataxia, type 8 / Episodic ataxia type 8", "OMIM:616055": "EPISODIC ATAXIA, TYPE 8; EA8", "OMIM:610100": "GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT; GAN2", "ORPHA:401973": "MEND syndrome/Mend syndrome / Male EBP disorder with neurological defects", "OMIM:300960": "MEND SYNDROME; MEND", "ORPHA:1389": "Cortical blindness-intellectual disability-polydactyly syndrome", "OMIM:613320": "SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM", "OMIM:614817": "INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN", "OMIM:615735": "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD", "OMIM:308050": "CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS", "ORPHA:402075": "Familial bicuspid aortic valve/Aortic valve disease 1 / Familial BAV", "OMIM:109730": "AORTIC VALVE DISEASE 1; AOVD1", "OMIM:613668": "MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY", "ORPHA:403": "Familial hyperaldosteronism type I/Aldosteronism, glucocorticoid-remediable / Dexamethasone-sensitive hypertension / FH-I / FH1 / Familial hyperaldosteronism type 1 / GRA / Glucocorticoid-remediable aldosteronism / Glucocorticoid-sensitive hypertension", "OMIM:103900": "HYPERALDOSTERONISM, FAMILIAL, TYPE I; HALD1", "ORPHA:40366": "Acitretin/etretinate embryopathy / Fetal acitretin/etretinate syndrome / Retinoid embryopathy", "ORPHA:100084": "Middle ear neuroendocrine tumor", "ORPHA:1390": "Night blindness-skeletal anomalies-dysmorphism syndrome / Hunter-Thompson-Reed syndrome", "ORPHA:404": "Familial hyperaldosteronism type II/Hyperaldosteronism, familial, type II / FH-II / FH2 / Familial hyperaldosteronism type 2", "OMIM:605635": "HYPERALDOSTERONISM, FAMILIAL, TYPE II; HALD2", "OMIM:615760": "MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA", "ORPHA:404440": "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency/Intellectual developmental disorder, autosomal dominant 23", "OMIM:615761": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23; MRD23", "ORPHA:404443": "Tatton-Brown-Rahman syndrome/Tatton-Brown-Rahman syndrome / DNMT3A-related overgrowth syndrome / Tatton-Brown-Rahman overgrowth syndrome", "OMIM:615879": "TATTON-BROWN-RAHMAN SYNDROME; TBRS", "ORPHA:404448": "ADNP syndrome/Helsmoortel-van der Aa syndrome / ADNP-related syndromic intellectual disability-autism spectrum disorder / HVDAS / Helsmoortel-Van Der Aa Syndrome", "OMIM:615873": "HELSMOORTEL-VAN DER AA SYNDROME; HVDAS", "ORPHA:404454": "Alacrimia-choreoathetosis-liver dysfunction syndrome/Congenital disorder of deglycosylation 1 / NGLY1 deficiency / NGLY1-CDDG", "OMIM:615273": "CONGENITAL DISORDER OF DEGLYCOSYLATION 1; CDDG1", "OMIM:613834": "SMOOTH MUSCLE DYSFUNCTION SYNDROME; SMDYS", "ORPHA:404473": "Severe intellectual disability-progressive spastic diplegia syndrome/Neurodevelopmental disorder with spastic diplegia and visual defects / CTNNB1 syndrome", "OMIM:615075": "NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS; NEDSDV", "OMIM:618272": "GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW", "ORPHA:404493": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency/Spinocerebellar ataxia, autosomal recessive 23 / SCAR23 / Spinocerebellar ataxia autosomal recessive type 23", "OMIM:616949": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23; SCAR23", "ORPHA:404499": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency/Spinocerebellar ataxia, autosomal recessive 15 / Autosomal recessive spinocerebellar ataxia type 15 / SCAR15 / Salih ataxia", "OMIM:615705": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15", "OMIM:615688": "VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME; VAIHS", "ORPHA:405": "Familial hypocalciuric hypercalcemia / FBH / FBHH / FHH / Familial benign hypercalcemia / Familial benign hypocalciuric hypercalcemia", "ORPHA:407": "Glycine encephalopathy/Glycine encephalopathy / NKA / Non-ketotic hyperglycinemia", "OMIM:605899": "GLYCINE ENCEPHALOPATHY 1; GCE1", "ORPHA:408": "Isolated glycerol kinase deficiency/Glycerol kinase deficiency / Hyperglycerolemia", "OMIM:307030": "GLYCEROL KINASE DEFICIENCY; GKD", "ORPHA:409": "Hyperkeratosis lenticularis perstans/Hyperkeratosis lenticularis perstans / Flegel disease", "OMIM:144150": "HYPERKERATOSIS LENTICULARIS PERSTANS; HLP", "ORPHA:41": "Dyschromatosis symmetrica hereditaria/Dyschromatosis symmetrica hereditaria 1 / Acropigmentation of Dohi", "OMIM:127400": "DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH", "ORPHA:411493": "Pontocerebellar hypoplasia type 10/Pontocerebellar hypoplasia, type 10 / CLP1-related pontocerebellar hypoplasia / PCH10", "OMIM:615803": "PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10", "ORPHA:411590": "Wolfram-like syndrome/Wolfram-Like syndrome, autosomal dominant", "OMIM:614296": "WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL", "ORPHA:411593": "Insulin autoimmune syndrome / Hirata disease", "ORPHA:411602": "Hereditary late-onset Parkinson disease / Autosomal dominant late-onset Parkinson disease / LOPD", "ORPHA:411629": "Infantile nephropathic cystinosis", "ORPHA:411634": "Juvenile nephropathic cystinosis/Cystinosis, late-onset juvenile or adolescent nephropathic / Intermediate cystinosis / Juvenile cystinosis", "OMIM:219900": "CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE", "ORPHA:411641": "Ocular cystinosis/Cystinosis, adult nonnephropathic / Adult-onset cystinosis / Non-nephropathic cystinosis", "OMIM:219750": "CYSTINOSIS, ADULT NONNEPHROPATHIC", "ORPHA:411709": "Renal agenesis", "OMIM:615026": "RIBOFLAVIN DEFICIENCY; RBFVD", "ORPHA:411777": "Generalized eruptive keratoacanthoma / GEKA / Generalized eruptive keratoacanthomas of Grzybowski / Grzybowski syndrome", "ORPHA:411986": "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome/Developmental and epileptic encephalopathy 23 / Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "OMIM:615859": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23; DEE23", "ORPHA:412": "Dysbetalipoproteinemia / Broad-beta disease / Familial dyslipidemia type 3 / HLP type 3 / Hyperlipidemia type 3 / Hyperlipoproteinemia type 3 / Remnant hyperlipoproteinemia", "OMIM:601552": "TRABOULSI SYNDROME", "ORPHA:412057": "Autosomal recessive cerebellar ataxia due to STUB1 deficiency/Spinocerebellar ataxia, autosomal recessive 16 / SCAR16 / Spinocerebellar ataxia autosomal recessive type 16", "OMIM:615768": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16", "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": "XIA-GIBBS SYNDROME; XIGIS", "OMIM:615425": "EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY; EBS3", "OMIM:615028": "EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE; EBS4", "OMIM:125350": "FAILURE OF TOOTH ERUPTION, PRIMARY; PFE", "ORPHA:412217": "Dystonia-aphonia syndrome", "ORPHA:414": "Gyrate atrophy of choroid and retina/Gyrate atrophy of choroid and retina with or without ornithinemia / HOGA / Hyperornithinemia / Hyperornithinemia-gyrate atrophy of choroid and retina syndrome / Ornithine aminotransferase deficiency", "OMIM:258870": "GYRATE ATROPHY OF CHOROID AND RETINA; GACR", "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 / HHH syndrome / ORNT1 deficiency / Ornithine carrier deficiency / Ornithine translocase deficiency / Triple H syndrome", "OMIM:238970": "HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; HHHS", "ORPHA:416": "Primary hyperoxaluria", "ORPHA:417": "Neonatal severe primary hyperparathyroidism/Hyperparathyroidism, neonatal severe / NSHPT", "OMIM:239200": "HYPERPARATHYROIDISM, NEONATAL SEVERE; NSHPT", "ORPHA:41751": "Bietti crystalline dystrophy/Bietti crystalline corneoretinal dystrophy / BCD / Bietti crystalline retinopathy", "OMIM:210370": "BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD", "ORPHA:419": "Hyperprolinemia type 1/Hyperprolinemia, type I / Proline oxidase deficiency", "OMIM:239500": "HYPERPROLINEMIA, TYPE I; HYRPRO1", "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 / ACADM deficiency / Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency / MCAD deficiency / Medium chain acyl-coenzyme A dehydrogenase deficiency", "OMIM:201450": "ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD", "ORPHA:420179": "Malan overgrowth syndrome/Malan syndrome / Sotos syndrome 2", "OMIM:614753": "MALAN SYNDROME; MALNS", "ORPHA:420485": "Cranio-cervical dystonia with laryngeal and upper-limb involvement/Dystonia 24 / DYT24", "OMIM:615034": "DYSTONIA 24; DYT24", "ORPHA:420492": "Adult-onset cervical dystonia, DYT23 type/Dystonia 23", "OMIM:614860": "DYSTONIA 23; DYT23", "ORPHA:420561": "Temple-Baraitser syndrome/Temple-Baraitser syndrome / Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome / TMBTS", "OMIM:611816": "TEMPLE-BARAITSER SYNDROME; TMBTS", "OMIM:615888": "BLEEDING DISORDER, PLATELET-TYPE, 18; BDPLT18", "OMIM:615897": "IMMUNODEFICIENCY 24; IMD24", "OMIM:615849": "CULLER-JONES SYNDROME; CJS", "OMIM:159595": "MYELOPROLIFERATIVE SYNDROME, TRANSIENT", "ORPHA:42062": "Iminoglycinuria/IMINOGLYCINURIA", "OMIM:242600": "IMINOGLYCINURIA", "OMIM:616099": "PALMOPLANTAR KERATODERMA AND WOOLLY HAIR; PPKWH", "OMIM:617014": "NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE; SCN7", "OMIM:615917": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20", "OMIM:615918": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21", "ORPHA:420741": "RIDDLE syndrome/Riddle syndrome / RNF168 deficiency / Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome", "OMIM:611943": "RIDDLE SYNDROME; RIDL", "ORPHA:420794": "Cono-spondylar dysplasia / Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome", "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 / Idiopathic and/or familial pulmonary arterial hypertension", "OMIM:178600": "PULMONARY HYPERTENSION, PRIMARY, 1; PPH1", "ORPHA:423": "Malignant hyperthermia of anesthesia/Malignant hyperthermia, susceptibility to, 1 / Hyperthermia of anesthesia", "OMIM:145600": "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1", "ORPHA:423275": "Spinocerebellar ataxia type 40/Spinocerebellar ataxia 40 / SCA40", "OMIM:616053": "SPINOCEREBELLAR ATAXIA 40; SCA40", "ORPHA:423296": "Spinocerebellar ataxia type 38/Spinocerebellar ataxia 38 / SCA38", "OMIM:615957": "SPINOCEREBELLAR ATAXIA 38; SCA38", "OMIM:616022": "NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6", "OMIM:616029": "ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME; ECTDS", "OMIM:252600": "MUCOLIPIDOSIS III ALPHA/BETA", "ORPHA:1393": "Cerebrocostomandibular syndrome/Cerebrocostomandibular syndrome", "OMIM:117650": "CEREBROCOSTOMANDIBULAR SYNDROME; CCMS", "OMIM:252605": "MUCOLIPIDOSIS III GAMMA", "ORPHA:423479": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome / X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency", "ORPHA:424": "Familial hyperthyroidism due to mutations in TSH receptor/Hyperthyroidism, nonautoimmune / Familial non-immune hyperthyroidism / Resistance to thyroid stimulating hormone", "OMIM:609152": "HYPERTHYROIDISM, NONAUTOIMMUNE", "ORPHA:424016": "Adenocarcinoma of the anal canal", "ORPHA:424019": "Squamous cell carcinoma of the anal canal", "OMIM:616230": "EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8", "OMIM:615877": "MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS", "ORPHA:424107": "Congenital myopathy with myasthenic-like onset", "OMIM:617072": "MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES; MRRSDC", "ORPHA:425": "Apolipoprotein A-I deficiency/HDL deficiency, familial, 1 / ApoA-I deficiency / Familial apoA-I deficiency / Familial hypoalphalipoproteinemia", "OMIM:604091": "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1", "OMIM:615934": "STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI", "ORPHA:1394": "Cerebrofaciothoracic dysplasia/Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 / Pascual-Castroviejo syndrome type 1", "OMIM:213980": "CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1; CFSMR1", "ORPHA:42642": "PFAPA syndrome / Marshall syndrome with periodic fever / Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome", "ORPHA:42665": "Tietz syndrome/Tietz albinism-deafness syndrome / Hypopigmentation-deafness syndrome / Hypopigmentation-hearing loss syndrome", "OMIM:103500": "TIETZ ALBINISM-DEAFNESS SYNDROME; TADS", "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 / PHACES syndrome / Pascual-Castroviejo syndrome type 2", "OMIM:606519": "PHACE ASSOCIATION", "ORPHA:428": "Autosomal dominant hypocalcemia/Hypocalcemia, autosomal dominant 1 / AD hypocalcemia", "OMIM:601198": "HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1", "ORPHA:429": "Hypochondroplasia/Hypochondroplasia", "OMIM:146000": "HYPOCHONDROPLASIA; HCH", "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 / X-ALD / X-linked ALD", "OMIM:300100": "ADRENOLEUKODYSTROPHY; ALD", "OMIM:300915": "MICROPHTHALMIA, SYNDROMIC 13; MCOPS13", "ORPHA:139402": "Drug reaction with eosinophilia and systemic symptoms / DRESS syndrome / Drug rash with eosinophilia and systemic symptoms", "OMIM:615593": "IMMUNODEFICIENCY 16; IMD16", "OMIM:255125": "MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML", "OMIM:181405": "SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA", "OMIM:300695": "SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM", "ORPHA:139406": "Encephalopathy due to prosaposin deficiency/Combined saposin deficiency / Combined prosaposin deficiency", "OMIM:611721": "COMBINED SAPOSIN DEFICIENCY; PSAPD", "ORPHA:431329": "Autosomal recessive spastic paraplegia type 57/Spastic paraplegia 57, autosomal recessive / SPG57 / Spastic paraplegia due to partial TFG deficiency", "OMIM:615658": "SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE; SPG57", "ORPHA:431361": "Progressive encephalopathy with leukodystrophy due to DECR deficiency/2,4-dienoyl-CoA reductase deficiency / DECR deficiency with hyperlysinemia", "OMIM:616034": "2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD", "ORPHA:432": "Normosmic congenital hypogonadotropic hypogonadism / Normosmic idiopathic hypogonadotropic hypogonadism / nIHH", "ORPHA:43393": "Lambert-Eaton myasthenic syndrome", "ORPHA:434179": "Orofaciodigital syndrome type 14/Orofaciodigital syndrome XIV / Microcephaly-cerebral malformation-orofaciodigital syndrome / OFD14 / Oral-facial-digital syndrome type 14", "OMIM:615948": "OROFACIODIGITAL SYNDROME XIV; OFD14", "ORPHA:139411": "Carney triad", "OMIM:137575": "GIGANTIFORM CEMENTOMA, FAMILIAL; FGC", "ORPHA:435387": "Autosomal dominant Charcot-Marie-Tooth disease type 2Y/Charcot-Marie-Tooth disease, axonal, type 2Y / Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation / CMT2 due to VCP mutation / CMT2Y", "OMIM:616687": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y; CMT2Y", "OMIM:616187": "EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7", "ORPHA:100086": "Gallbladder neuroendocrine tumor", "ORPHA:139414": "Congenital panfollicular nevus", "ORPHA:435628": "Keppen-Lubinsky syndrome/Keppen-Lubinsky syndrome / Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome", "OMIM:614098": "KEPPEN-LUBINSKY SYNDROME; KPLBS", "ORPHA:435638": "3p25.3 microdeletion syndrome / Del(3)p(25.3) / Intellectual disability-epilepsy-stereotypic hand movement syndrome / Monosomy 3p25.3", "ORPHA:435651": "CIDEC-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 5 / CIDEC-related FPLD / FPLD5", "OMIM:615238": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5; FPLD5", "ORPHA:435660": "LIPE-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 6 / FPLD6 / LIPE-related FPLD", "OMIM:615980": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6", "OMIM:614498": "RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL", "OMIM:212550": "OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY; ODRMD", "ORPHA:435934": "COG2-CDG/Congenital disorder of glycosylation, type IIq / COG2-related congenital disorder of glycosylation", "OMIM:617395": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q", "ORPHA:435938": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome", "OMIM:616200": "RUIJS-AALFS SYNDROME; RJALS", "OMIM:616201": "CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID", "OMIM:616039": "CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID", "CCRD:50": "低磷酸酯酶症/Hypophosphatasia; HPP/Hypophosphatasia", "ORPHA:436": "低磷酸酯酶症/Hypophosphatasia; HPP/Hypophosphatasia / Phosphoethanolaminuria / Rathbun disease", "ORPHA:436003": "Contractures-developmental delay-Pierre Robin syndrome / 5q23 microdeletion syndrome", "ORPHA:436141": "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome / HIDEA syndrome", "ORPHA:436144": "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome", "OMIM:616100": "IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION; IDAIL", "OMIM:616050": "AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC", "OMIM:614486": "THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12", "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 / CAGSSS", "OMIM:616007": "CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS", "ORPHA:436182": "Microcephalic primordial dwarfism-insulin resistance syndrome", "OMIM:616117": "CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; CCDD", "ORPHA:436245": "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome/Retinal dystrophy, juvenile cataracts, and short stature syndrome / Retinal dystrophy-juvenile cataract-short stature syndrome", "OMIM:616108": "RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS", "ORPHA:436252": "Combined immunodeficiency-enteropathy spectrum/Gastrointestinal defects and immunodeficiency syndrome / CID-MIA/early-onset IBD", "OMIM:243150": "GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 1; GIDID1", "ORPHA:436271": "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy", "ORPHA:436274": "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa / PXE-like syndrome 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; IMD20", "ORPHA:437572": "MYH7-related late-onset scapuloperoneal muscular dystrophy/Scapuloperoneal myopathy, myh7-related / OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy / OBSOLETE: MYH7-related late-onset SPMD / OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome", "OMIM:181430": "MYH7-related late-onset scapuloperoneal muscular dystrophy/Scapuloperoneal myopathy, myh7-related", "OMIM:616095": "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D", "ORPHA:438114": "RARS-related autosomal recessive hypomyelinating leukodystrophy/Leukodystrophy, hypomyelinating, 9", "OMIM:616140": "LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9", "OMIM:615155": "STEEL SYNDROME; STLS", "ORPHA:139426": "Perioral myoclonia with absences / POMA", "ORPHA:438134": "PCNA-related progressive neurodegenerative photosensitivity syndrome/Ataxia-telangiectasia-like disorder 2", "OMIM:615919": "ATAXIA-TELANGIECTASIA-LIKE DISORDER 2; ATLD2", "OMIM:615952": "AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1", "ORPHA:438178": "Fatty acyl-CoA reductase 1 deficiency/Peroxisomal fatty acyl-CoA reductase 1 disorder / FAR1 deficiency / PFCRD", "OMIM:616154": "PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD", "OMIM:616176": "BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19", "ORPHA:438216": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation/Mental retardation, autosomal dominant 31", "OMIM:616158": "NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES; NEDRIHF", "ORPHA:438274": "GCGR-related hyperglucagonemia / Mahvash disease", "ORPHA:439": "Isolated right ventricular hypoplasia/Right ventricular hypoplasia, isolated", "OMIM:277200": "RIGHT VENTRICULAR HYPOPLASIA, ISOLATED", "ORPHA:439167": "Placental insufficiency / Uteroplacental vascular insufficiency", "OMIM:614399": "CONGENITAL MYOPATHY 10A, SEVERE VARIANT; CMYO10A", "ORPHA:439218": "KCNQ2-related epileptic encephalopathy/Epileptic encephalopathy, early infantile, 7 / KCNQ2-NEE / KCNQ2-related neonatal epileptic encephalopathy", "OMIM:613720": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7; DEE7", "ORPHA:439232": "AApoAIV amyloidosis / Apolipoprotein A-IV amyloidosis", "ORPHA:139436": "Multicentric reticulohistiocytosis / Giant cell histiocytomatosis / Lipoid dermatoarthritis", "OMIM:261740": "GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL", "OMIM:616258": "MECKEL SYNDROME 12; MKS12", "ORPHA:44": "Neonatal adrenoleukodystrophy / Intermediate PBD-ZSD / Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder / NALD", "ORPHA:440354": "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome / Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome", "OMIM:610921": "SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3", "OMIM:615486": "INTERSTITIAL LUNG AND LIVER DISEASE; ILLD", "ORPHA:440437": "Familial colorectal cancer Type X / FCCTX", "ORPHA:139444": "Leukoencephalopathy with bilateral anterior temporal lobe cysts", "OMIM:608611": "RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY; RPIAD", "ORPHA:440713": "Isolated sedoheptulokinase deficiency/Sedoheptulokinase deficiency / Isolated SHPK deficiency", "OMIM:617213": "SEDOHEPTULOKINASE DEFICIENCY; SHPKD", "ORPHA:440727": "Combined hamartoma of the retina and retinal pigment epithelium / CHR-RPE / Combined hamartoma of the retina and RPE", "OMIM:615604": "L-FERRITIN DEFICIENCY; LFTD", "ORPHA:441": "Pure autonomic failure / Bradbury-Eggleston syndrome / Idiopathic orthostatic hypotension / PAF / Pure dysautonomia / Pure idiopatic dysautonomia", "ORPHA:442": "Congenital hypothyroidism", "ORPHA:442835": "Non-specific early-onset epileptic encephalopathy / Non-specific EOEE / Undetermined EOEE / Undetermined 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; CMT2S", "OMIM:614279": "46,XY SEX REVERSAL 8; SRXY8", "ORPHA:139450": "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome/Microtia - eye coloboma - imperforation of the nasolacrimal duct / Balikova-Vermeesch syndrome", "OMIM:611863": "MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA", "OMIM:144755": "HYPEROSTOSIS CRANIALIS INTERNA; HCIN", "OMIM:605013": "MICROHYDRANENCEPHALY; MHAC", "ORPHA:443167": "NUT midline carcinoma / NMC", "OMIM:611809": "BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB", "OMIM:300752": "PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP", "OMIM:604715": "ORTHOSTATIC INTOLERANCE; ORSTI", "ORPHA:443811": "PGM3-CDG/Immunodeficiency 23 / CID due to PGM3 deficiency / Combined immunodeficiency due to PGM3 deficiency / PGM3-related congenital disorder of glycosylation", "OMIM:615816": "IMMUNODEFICIENCY 23; IMD23", "OMIM:219730": "VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD", "ORPHA:139466": "SERKAL syndrome/46,XX sex reversal with dysgenesis of kidney, adrenals, and lungs / Sex reversion-kidneys, adrenal and lung dysgenesis syndrome", "OMIM:611812": "46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL", "OMIM:616367": "MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA", "ORPHA:444": "Marie Unna hereditary hypotrichosis / Hypotrichosis, Marie Unna type / MUHH / Marie Unna congenital hypotrichosis", "ORPHA:444002": "11q22.2q22.3 microdeletion syndrome / Del(11)(q22.2q22.3) / Monosomy 11q22.2q22.3", "ORPHA:444013": "Combined oxidative phosphorylation defect type 23/Combined oxidative phosphorylation deficiency 23 / COXPD23", "OMIM:616198": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23", "OMIM:616185": "OVARIAN DYSGENESIS 4; ODG4", "ORPHA:444051": "20q11.2 microdeletion syndrome / Del(20)(q11.2) / Monosomy 20q11", "ORPHA:444072": "Cerebellar-facial-dental syndrome/Cerebellofaciodental syndrome", "OMIM:616202": "CEREBELLOFACIODENTAL SYNDROME; CFDS", "ORPHA:444077": "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome/CHOPS syndrome", "OMIM:616368": "CHOPS SYNDROME; CHOPS", "OMIM:616414": "AUTOINFLAMMATION AND AUTOIMMUNITY, SYSTEMIC, WITH IMMUNE DYSREGULATION; AIAISD", "ORPHA:139471": "Microphthalmia with brain and digit anomalies/Microphthalmia, syndromic 6 / Bakrania-Ragge syndrome / MCOPS6 / Syndromic microphthalmia type 6", "OMIM:607932": "MICROPHTHALMIA, SYNDROMIC 6; MCOPS6", "ORPHA:444099": "Autosomal dominant spastic paraplegia type 73/Spastic paraplegia 73, autosomal dominant / SPG73", "OMIM:616282": "SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT; SPG73", "OMIM:616295": "PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS; PLACK", "OMIM:616239": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24", "ORPHA:444463": "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome / Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency / Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II / Evans syndrome associated with primary immunodeficiency / TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease / TRIANGLE disease", "ORPHA:444490": "Familial chylomicronemia syndrome", "OMIM:614700": "IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8", "ORPHA:139474": "17q11.2 microduplication syndrome / Dup(17)(q11.2) / Grisart-Destrée syndrome / Trisomy 17q11.2", "ORPHA:445038": "3-methylglutaconic aciduria type 7/3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia / 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome / MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome / MGA7", "OMIM:616271": "3-METHYLGLUTACONIC ACIDURIA, TYPE VIIB; MGCA7B", "ORPHA:445062": "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome/Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus / Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome / Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome", "OMIM:616192": "ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD", "OMIM:616094": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12", "ORPHA:446": "Neonatal hemochromatosis/Hemochromatosis, neonatal", "OMIM:231100": "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 / Marchiafava-Micheli disease", "OMIM:300818": "PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1; PNH1", "OMIM:616433": "IMMUNODEFICIENCY 40; IMD40", "ORPHA:447753": "Autosomal dominant spastic paraplegia type 9A/Spastic paraplegia 9A, autosomal dominant / AD-SPG9A / Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome / Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome", "OMIM:601162": "SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A", "ORPHA:139480": "Autosomal recessive spastic paraplegia type 39/Spastic paraplegia 39, autosomal recessive / SPG39 / Spastic paraplegia due to NTE mutation / Spastic paraplegia due to neuropathy target esterase mutation", "OMIM:612020": "SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39", "ORPHA:447757": "Autosomal dominant spastic paraplegia type 9B / AD-SPG9B", "ORPHA:447760": "Autosomal recessive spastic paraplegia type 9B/Spastic paraplegia 9B, autosomal recessive / AR-SPG9B", "OMIM:616586": "SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B", "OMIM:614741": "MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD", "ORPHA:139485": "Autosomal recessive ataxia due to ubiquinone deficiency/Coenzyme Q10 deficiency, primary, 4 / ARCA2 / Autosomal recessive ataxia due to coenzyme Q10 deficiency / Autosomal recessive cerebellar ataxia type 2 / Autosomal recessive spinocerebellar ataxia type 9 / SCAR9", "OMIM:612016": "COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4", "ORPHA:447877": "Polymerase proofreading-related adenomatous polyposis / PPAP", "ORPHA:447896": "Tremor-ataxia-central hypomyelination syndrome / TACH syndrome", "OMIM:616430": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25", "OMIM:618373": "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA; CAPOK", "OMIM:616491": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V", "OMIM:616549": "KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM; KFS4", "OMIM:616852": "MYOPATHY, SCAPULOHUMEROPERONEAL; SHPM", "ORPHA:139491": "Hemochromatosis type 4/Hemochromatosis, type 4 / OBSOLETE: Hemochromatosis type 4 / OBSOLETE: Autosomal dominant hereditary hemochromatosis / OBSOLETE: Ferroportin disease / OBSOLETE: Hemochromatosis due to defect in ferroportin", "OMIM:606069": "HEMOCHROMATOSIS, TYPE 4; HFE4", "ORPHA:447997": "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome/Spastic tetraplegia, thin corpus callosum, and progressive microcephaly / ASCT1 deficiency / Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", "OMIM:616657": "SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM", "CCRD:36": "血友病/Hemophilia", "OMIM:616457": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50; DEE50", "OMIM:616291": "LICHTENSTEIN-KNORR SYNDROME; LIKNS", "ORPHA:139507": "African iron overload / Dietary iron overload disease / Bantu siderosis", "ORPHA:44890": "Gastrointestinal stromal tumor/Gastrointestinal stromal tumor / GIST / Gastrointestinal stromal sarcoma", "OMIM:606764": "GASTROINTESTINAL STROMAL TUMOR; GIST", "ORPHA:45": "Adenosine monophosphate deaminase deficiency / AMP deaminase deficiency / Myoadenylate deaminase deficiency", "OMIM:149700": "LACRIMAL DUCT DEFECT; LCDD", "OMIM:611228": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4J; CMT4J", "ORPHA:452": "X-linked lissencephaly with abnormal genitalia/Lissencephaly, X-linked, 2 / X-linked lissencephaly with ambiguous genitalia / X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome / XLAG (X-linked lissencephaly with abnormal genitalia) syndrome", "OMIM:300215": "LISSENCEPHALY, X-LINKED, 2; LISX2", "ORPHA:453504": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation/Au-Kline syndrome", "OMIM:616580": "AU-KLINE SYNDROME; AUKS", "ORPHA:453521": "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency/Spinocerebellar ataxia, autosomal recessive 17 / SCAR17 / Spinocerebellar ataxia autosomal recessive type 17", "OMIM:616127": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17", "ORPHA:453533": "Polyendocrine-polyneuropathy syndrome/Polyendocrine-polyneuropathy syndrome", "OMIM:616113": "POLYENDOCRINE-POLYNEUROPATHY SYNDROME; PEPNS", "OMIM:135700": "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1", "ORPHA:454": "Acquired ichthyosis", "ORPHA:45448": "Miyoshi myopathy/Miyoshi muscular dystrophy 1", "OMIM:254130": "MIYOSHI MUSCULAR DYSTROPHY 1; MMD1", "OMIM:182960": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 1; HMND1", "ORPHA:45453": "Incessant infant ventricular tachycardia", "OMIM:181030": "SALIVARY GLAND ADENOMA, PLEOMORPHIC", "ORPHA:454840": "NTHL1-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis 3 / NTHL1-related AFAP / NTHL1-related attenuated FAP", "OMIM:616415": "FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3", "ORPHA:454887": "Corticobasal syndrome", "ORPHA:455": "Superficial epidermolytic ichthyosis/Ichthyosis, Bullous type / Ichthyosis bullosa of Siemens / SEI", "OMIM:146800": "ICHTHYOSIS BULLOSA OF SIEMENS; IBS", "ORPHA:456312": "Infantile multisystem neurologic-endocrine-pancreatic disease/Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset / IMNEPD", "OMIM:616263": "NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1; IMNEPD1", "OMIM:614116": "NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E", "ORPHA:456328": "X-linked myotubular myopathy-abnormal genitalia syndrome/Myotubular myopathy with abnormal genital development / Xq28 contiguous gene deletion syndrome", "OMIM:300219": "MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT", "ORPHA:139536": "Distal hereditary motor neuropathy type 5 / Distal HMN V / Distal hereditary motor neuropathy type V / Distal spinal muscular atrophy type 5 / dHMN5", "OMIM:616199": "POLYGLUCOSAN BODY MYOPATHY 2; PGBM2", "ORPHA:457": "Harlequin ichthyosis/Ichthyosis, congenital, autosomal recessive 4B / Autosomal congenital ichthyosis, Harlequin type / HI / Ichthyosis congenita, Harlequin type", "OMIM:242500": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B", "ORPHA:457050": "Autosomal dominant mitochondrial myopathy with exercise intolerance/Myopathy, isolated mitochondrial, autosomal dominant", "OMIM:616209": "MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT; IMMD", "ORPHA:457059": "Pseudohypoparathyroidism with Albright hereditary osteodystrophy", "OMIM:212050": "IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS; IMD103", "OMIM:607088": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 3; HMNR3", "OMIM:616276": "COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7", "ORPHA:457193": "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome/Arboleda-Tham syndrome / KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome / KAT6A syndrome", "OMIM:616268": "ARBOLEDA-THAM SYNDROME; ARTHS", "ORPHA:457212": "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome/Intellectual developmental disorder, autosomal recessive 48", "OMIM:616269": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48; MRT48", "OMIM:617872": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34; COXPD34", "ORPHA:457240": "X-linked intellectual disability-short stature-overweight syndrome/Mental retardation, X-linked 12/35", "OMIM:300957": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, KUMAR TYPE; MRXSK", "ORPHA:457260": "X-linked intellectual disability-hypotonia-movement disorder syndrome", "OMIM:616540": "EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9", "OMIM:605726": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2; HMNR2", "ORPHA:457279": "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome/Mental retardation, autosomal dominant 35", "OMIM:616355": "HOUGE-JANSSENS SYNDROME 1; HJS1", "ORPHA:457284": "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome/Mental retardation, autosomal dominant 36", "OMIM:616362": "HOUGE-JANSSENS SYNDROME 2; HJS2", "ORPHA:457351": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome/Epilepsy, hearing loss, and mental retardation syndrome / Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome", "OMIM:616577": "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES; NEDHSB", "OMIM:616647": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35", "OMIM:616897": "OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE; OCLSBG", "ORPHA:457395": "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome/Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type", "OMIM:616723": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA", "OMIM:616370": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4", "ORPHA:457485": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome/Smith-Kingsmore syndrome / MINDS syndrome", "OMIM:616638": "SMITH-KINGSMORE SYNDROME; SKS", "OMIM:300489": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; HMNX", "OMIM:122455": "CORONARY ARTERY DISSECTION, SPONTANEOUS", "ORPHA:458798": "Spinocerebellar ataxia type 41/Spinocerebellar ataxia 41 / SCA41", "OMIM:616410": "SPINOCEREBELLAR ATAXIA 41; SCA41", "ORPHA:458803": "Spinocerebellar ataxia type 42/Spinocerebellar ataxia 42 / SCA42", "OMIM:616795": "SPINOCEREBELLAR ATAXIA 42; SCA42", "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 / AOA4", "OMIM:616267": "ATAXIA-OCULOMOTOR APRAXIA 4; AOA4", "OMIM:616583": "SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE; SEDSTN", "ORPHA:459056": "Autosomal recessive spastic paraplegia type 75/Spastic paraplegia 75, autosomal recessive / SPG75", "OMIM:616680": "SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE; SPG75", "ORPHA:459061": "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome/Developmental delay with short stature, dysmorphic features, and sparse hair / Developmental delay-short stature-dysmorphic features-sparse hair syndrome / Loucks-Innes syndrome", "OMIM:616901": "DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 1; DEDSSH1", "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 / Mutilating HSAN with spastic paraplegia", "OMIM:256840": "NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE; HSNSP", "ORPHA:46": "Adenylosuccinate lyase deficiency/Adenylosuccinase deficiency / ADSL deficiency", "OMIM:103050": "ADENYLOSUCCINASE DEFICIENCY; ADSLD", "ORPHA:46059": "Lathosterolosis/Lathosterolosis / Sterol C5-desaturase deficiency", "OMIM:607330": "LATHOSTEROLOSIS; LATHOS", "ORPHA:461": "Recessive X-linked ichthyosis/Ichthyosis, X-linked / RXLI / Steroid sulfatase deficiency", "OMIM:308100": "ICHTHYOSIS, X-LINKED; XLI", "ORPHA:46348": "Paroxysmal extreme pain disorder/Paroxysmal extreme pain disorder / Familial rectal pain", "OMIM:167400": "PAROXYSMAL EXTREME PAIN DISORDER; PEXPD", "ORPHA:464": "Incontinentia pigmenti/Incontinentia pigmenti / Bloch-Siemens syndrome / Bloch-Sulzberger syndrome", "OMIM:308300": "INCONTINENTIA PIGMENTI; IP", "ORPHA:464282": "Spastic paraplegia-severe developmental delay-epilepsy syndrome/Spastic paraplegia and psychomotor retardation with or without seizures / SPPRS syndrome / Spastic paraplegia-psychomotor retardation-seizures syndrome", "OMIM:616756": "SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS", "ORPHA:464288": "Short stature-brachydactyly-obesity-global developmental delay syndrome/Short stature, brachydactyly, intellectual developmental disability, and seizures / SBIDDS", "OMIM:617157": "SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; SBIDDS", "ORPHA:464306": "DYRK1A-related intellectual disability syndrome/Mental retardation, autosomal dominant 7 / DYRK1A syndrome", "OMIM:614104": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7; MRD7", "OMIM:300614": "DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY; DFNX5", "ORPHA:464318": "Verrucous hemangioma", "ORPHA:464329": "Kaposiform lymphangiomatosis", "OMIM:616452": "B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA", "OMIM:617022": "LETHAL CONGENITAL CONTRACTURE SYNDROME 10; LCCS10", "ORPHA:464440": "Primary dystonia, DYT27 type/Dystonia 27", "OMIM:616411": "DYSTONIA 27; DYT27", "OMIM:614576": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L", "ORPHA:464453": "Acquired methemoglobinemia / Drug-induced methemoglobinemia", "OMIM:616483": "INFANTILE LIVER FAILURE SYNDROME 2; ILFS2", "ORPHA:464738": "Basel-Vanagaite-Smirin-Yosef syndrome/Basel-Vanagaite-Smirin-Yosef syndrome", "OMIM:616449": "BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS", "OMIM:611543": "CAVITARY OPTIC DISC ANOMALIES; CODA", "ORPHA:46486": "Mucous membrane pemphigoid / Cicatricial pemphigoid / Mucosal pemphigoid / Mucosynechial pemphigoid", "ORPHA:1397": "Hydrocephaly-cerebellar agenesis syndrome", "ORPHA:46487": "Epidermolysis bullosa acquisita / Acquired epidermolysis bullosa", "ORPHA:46488": "Linear IgA dermatosis", "ORPHA:465": "Congenital plasminogen activator inhibitor type 1 deficiency/Plasminogen activator inhibitor-1 deficiency / Congenital PAI-1 deficiency", "OMIM:613329": "PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY", "ORPHA:46532": "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome / HPFH-beta-thalassemia syndrome", "ORPHA:465508": "Symptomatic form of hemochromatosis type 1 / Symptomatic form of HFE-related hemochromatosis / Symptomatic form of classic hemochromatosis", "OMIM:613630": "FETAL ENCASEMENT SYNDROME", "OMIM:600072": "FATAL FAMILIAL INSOMNIA; FFI", "ORPHA:1398": "Isolated cerebellar agenesis / Near total absence of cerebellum / Subtotal absence of cerebellum", "ORPHA:46627": "Char syndrome/Char syndrome / Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits", "OMIM:169100": "CHAR SYNDROME; CHAR", "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": "CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA", "OMIM:616829": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp; CDG2P", "OMIM:617111": "MACULAR DYSTROPHY, PATTERNED, 3; MDPT3", "ORPHA:1399": "Richards-Rundle syndrome / Ketoaciduria-intellectual disability-ataxia-deafness syndrome / Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome", "ORPHA:466722": "Autosomal recessive spastic paraplegia type 77/Spastic paraplegia 77, autosomal recessive / SPG77", "OMIM:617046": "SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE; SPG77", "ORPHA:466768": "Autosomal dominant Charcot-Marie-Tooth disease type 2Z/Charcot-Marie-Tooth disease, axonal, type 2Z / Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation / CMT2Z", "OMIM:616688": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z; CMT2Z", "OMIM:616668": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X", "OMIM:616794": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28", "ORPHA:466791": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome/Mental retardation, X-linked, syndromic 34", "OMIM:300967": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34; MRXS34", "ORPHA:466794": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome/Spinocerebellar ataxia, autosomal recessive 21 / Autosomal recessive spinocerebellar ataxia type 21 / SCAR21", "OMIM:616719": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21", "OMIM:616827": "MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE; MDRCMTT", "OMIM:616913": "BLEEDING DISORDER, PLATELET-TYPE, 20; BDPLT20", "ORPHA:14": "Abetalipoproteinemia/ABETALIPOPROTEINEMIA / Bassen-Kornzweig disease / Homozygous familial hypobetalipoproteinemia", "OMIM:200100": "ABETALIPOPROTEINEMIA; ABL", "ORPHA:466926": "Seizures-scoliosis-macrocephaly syndrome/Seizures, scoliosis, and macrocephaly/microcephaly syndrome / SSM syndrome", "OMIM:616682": "SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME; SSMS", "ORPHA:466934": "VPS11-related autosomal recessive hypomyelinating leukodystrophy/Leukodystrophy, hypomyelinating, 12 / VPS11-related autosomal recessive hypomyelinating leukoencephalopathy", "OMIM:616683": "LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12", "ORPHA:466950": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation/Desanto-Shinawi syndrome / Desanto-Shinawi syndrome due to WAC point mutation", "OMIM:616708": "DESANTO-SHINAWI SYNDROME; DESSH", "OMIM:616816": "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR", "ORPHA:46724": "Cerebral arteriovenous malformation/Arteriovenous malformation of the brain, somatic / Intracranial arteriovenous malformation", "OMIM:108010": "ARTERIOVENOUS MALFORMATIONS OF THE BRAIN", "ORPHA:468620": "Intellectual disability-epilepsy-extrapyramidal syndrome/Dyskinesia, seizures, and intellectual developmental disorder", "OMIM:617171": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES; NEDHELS", "ORPHA:140": "Campomelic dysplasia/Campomelic dysplasia / Campomelic dwarfism", "OMIM:114290": "CAMPOMELIC DYSPLASIA; CMPD", "ORPHA:468631": "Microcephalic cortical malformations-short stature due to RTTN deficiency/Microcephaly, short stature, and polymicrogyria with or without seizures", "OMIM:614833": "MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP", "ORPHA:468661": "Autosomal recessive spastic paraplegia type 74/Spastic paraplegia 74, autosomal recessive / SPG74", "OMIM:616451": "SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74", "OMIM:106190": "ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD", "OMIM:602499": "MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; MACOM", "ORPHA:468678": "White-Sutton syndrome/White-Sutton syndrome / Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "OMIM:616364": "WHITE-SUTTON SYNDROME; WHSUS", "OMIM:616828": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo; CDG2O", "ORPHA:468699": "SLC39A8-CDG/Congenital disorder of glycosylation, type IIN / CDG syndrome type IIn / CDG-IIn / CDG2N / Carbohydrate deficient glycoprotein syndrome type IIn / Congenital disorder of glycosylation type 2n / Congenital disorder of glycosylation type IIn / SLC39A8 deficiency", "OMIM:616721": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N", "OMIM:616716": "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5", "ORPHA:1401": "CHAND syndrome/CHANDS / Baughman syndrome / Curly hair-ankyloblepharon-nail dysplasia syndrome", "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 / Hereditary fructose-1-phosphate aldolase deficiency / Hereditary fructosemia", "OMIM:229600": "FRUCTOSE INTOLERANCE, HEREDITARY; HFI", "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 / BTK-deficiency / Bruton type agammaglobulinemia", "OMIM:300755": "AGAMMAGLOBULINEMIA, X-LINKED; XLA", "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 / Hyperdibasic aminoaciduria", "OMIM:222700": "LYSINURIC PROTEIN INTOLERANCE; LPI", "OMIM:605074": "RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1", "ORPHA:47045": "Familial cold urticaria / FCAS / FCU / Familial cold autoinflammatory syndrome", "ORPHA:47159": "Proximal renal tubular acidosis/Renal tubular acidosis, proximal / Renal tubular acidosis type 2 / pRTA", "OMIM:179830": "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 / Asphyxiating thoracic dystrophy of the newborn / JATD / Jeune asphyxiating thoracic dystrophy", "ORPHA:475": "Joubert syndrome/Joubert syndrome 1 / CPD IV / Cerebelloparenchymal disorder IV / Classic Joubert syndrome / Joubert syndrome type A / Joubert-Boltshauser syndrome / Pure Joubert syndrome", "OMIM:213300": "JOUBERT SYNDROME 1; JBTS1", "OMIM:616812": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25; LGMDR25", "OMIM:616744": "AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 1; AIFBL1", "OMIM:616740": "IMMUNODEFICIENCY 46; IMD46", "ORPHA:140286": "Secondary hypoparathyroidism due to impaired parathormon secretion", "ORPHA:47612": "Felty syndrome/Felty syndrome / Splenomegaly-neutropenia-rheumatoid arthritis syndrome", "OMIM:134750": "FELTY SYNDROME", "ORPHA:476126": "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome/Mental retardation, autosomal dominant 44", "OMIM:617061": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY; MRD44", "OMIM:618279": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G; CMT1G", "ORPHA:477": "KID syndrome/Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant / Ichthyosis hystrix Rheydt type / KID/HID syndrome / Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome / Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome / Senter syndrome", "OMIM:148210": "KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD", "OMIM:615767": "IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11", "OMIM:606893": "VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS; VMPI", "ORPHA:477673": "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome/Neurodevelopmental disorder with microcephaly and spastic paraplegia", "OMIM:616281": "NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM", "OMIM:616539": "PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY; PNSED", "ORPHA:477774": "Combined oxidative phosphorylation defect type 27/Combined oxidative phosphorylation deficiency 27 / COXPD27", "OMIM:616672": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27", "OMIM:618372": "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP", "OMIM:616632": "SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS", "ORPHA:477817": "PMP22-RAI1 contiguous gene duplication syndrome/Yuan-Harel-Lupski syndrome / 17p11.2p12 microduplication syndrome / Dup(17)(p11.2p12) / Trisomy 17p11.2-p12 / Trisomy 17p11.2p12", "OMIM:616652": "YUAN-HAREL-LUPSKI SYNDROME; YUHAL", "OMIM:616592": "KOSAKI OVERGROWTH SYNDROME; KOGS", "OMIM:616622": "IMMUNODEFICIENCY 42; IMD42", "ORPHA:477993": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome/Cleft palate, psychomotor retardation, and distinctive facial features / Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome", "OMIM:616728": "CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF", "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 / Congenital hypogonadotropic hypogonadism with anosmia / Olfacto-genital pathological sequence", "ORPHA:478029": "Combined oxidative phosphorylation defect type 29 / COXPD29", "OMIM:616974": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30; COXPD30", "OMIM:617228": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31", "OMIM:616488": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8", "ORPHA:48": "Congenital bilateral absence of vas deferens / Congenital bilateral agenesis of vas deferens / Congenital bilateral aplasia 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": "KEARNS-SAYRE SYNDROME; KSS", "OMIM:617049": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5", "OMIM:615878": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4", "ORPHA:480536": "MSH3-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis 4 / MSH3-related AFAP / MSH3-related attenuated FAP / MSH3-related attenuated familial polyposis coli", "OMIM:617100": "FAMILIAL ADENOMATOUS POLYPOSIS 4; FAP4", "OMIM:617232": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21; LGMDR21", "OMIM:616937": "THROMBOCYTOPENIA 6; THC6", "ORPHA:480864": "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome/Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration / TANGO2-related metabolic encephalopathy-arrhythmia syndrome", "OMIM:616878": "METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN", "ORPHA:480880": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability/Mental retardation, X-linked 99, syndromic, female-restricted / X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females", "OMIM:300968": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F", "ORPHA:480898": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome/Cerebellar atrophy, visual impairment, and psychomotor retardation", "OMIM:616875": "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR", "ORPHA:480907": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome/Mental retardation, X-linked, syndromic 33", "OMIM:300966": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33; MRXS33", "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 / SMAX1 / X-linked BSMA / X-linked bulbospinal amyotrophy / X-linked bulbospinal muscular atrophy / X-linked spinal and bulbar muscular atrophy", "OMIM:313200": "SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1", "ORPHA:48104": "Pyoderma gangrenosum", "ORPHA:481152": "PYCR2-related microcephaly-progressive leukoencephalopathy/Leukodystrophy, hypomyelinating, 10", "OMIM:616420": "LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10", "OMIM:617397": "PSEUDO-TORCH SYNDROME 2; PTORCH2", "ORPHA:482": "Kimura disease / Eosinophilic lymphogranuloma", "ORPHA:482601": "Adenylosuccinate synthetase-like 1-related distal myopathy/Myopathy, distal, 5 / ADSSL1-related distal myopathy", "OMIM:617030": "MYOPATHY, DISTAL, 5; MPD5", "OMIM:228960": "HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY", "ORPHA:48372": "Nodular regenerative hyperplasia of the liver / Non-cirrhotic nodulation", "ORPHA:48377": "Subcorneal pustular dermatosis / Pustulosis subcornealis / Sneddon-Wilkinson disease / Subcorneal pustular dermatitis", "ORPHA:48431": "Congenital cataracts-facial dysmorphism-neuropathy syndrome/Congenital cataracts, facial dysmorphism, and neuropathy / CCFDN", "OMIM:604168": "CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN", "ORPHA:485": "Kniest dysplasia/Kniest dysplasia", "OMIM:156550": "KNIEST DYSPLASIA", "ORPHA:485350": "CLCN4-related X-linked intellectual disability syndrome / Raynaud-Claes syndrome", "ORPHA:485421": "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect/Encephalopathy due to defective mitochondrial and peroxisomal fission 2 / Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome / Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome", "OMIM:617086": "ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2; EMPF2", "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": "NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1", "ORPHA:48652": "Monosomy 22q13.3/Phelan-Mcdermid syndrome / Phelan-McDermid syndrome", "OMIM:606232": "PHELAN-MCDERMID SYNDROME; PHMDS", "ORPHA:486815": "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome/Muscular dystrophy, congenital, Davignon-Chauveau type / Congenital muscular dystrophy, Davignon-Chauveau type", "OMIM:617066": "MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC", "ORPHA:48686": "Primary effusion lymphoma / Body cavity-based lymphoma / PEL", "OMIM:608236": "SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT; SNCV", "OMIM:245200": "KRABBE DISEASE; KRB", "ORPHA:487796": "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome/Takenouchi-Kosaki syndrome", "OMIM:616737": "TAKENOUCHI-KOSAKI SYNDROME; TKS", "ORPHA:487825": "Pierpont syndrome/Pierpont syndrome / Plantar lipomatosis-facial dysmorphism-developmental delay syndrome / Plantar lipomatosis-unusual facies-developmental delay syndrome", "OMIM:602342": "PIERPONT SYNDROME; PRPTS", "OMIM:616834": "MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD", "ORPHA:48818": "Aceruloplasminemia/ACERULOPLASMINEMIA / Hereditary ceruloplasmin deficiency", "OMIM:604290": "ACERULOPLASMINEMIA; ACEP", "ORPHA:1406": "Charlie M syndrome", "OMIM:616722": "RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT; RDICC", "ORPHA:488232": "Split-foot malformation-mesoaxial polydactyly syndrome/Split-Foot malformation with mesoaxial polydactyly / SFMMP / Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome", "OMIM:616890": "SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY; SFMMP", "OMIM:607278": "OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO; OSFD", "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 / Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation / CMT2W", "OMIM:616625": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W; CMT2W", "ORPHA:488434": "Camptodactyly syndrome, Guadalajara type 3/Camptodactyly syndrome, Guadalajara, type III", "OMIM:611929": "CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III", "ORPHA:488437": "SIX2-related frontonasal dysplasia / SIX2-related FND", "ORPHA:488594": "Autosomal recessive spastic paraplegia type 76/Spastic paraplegia 76, autosomal recessive / SPG76", "OMIM:616907": "SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76", "ORPHA:488613": "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome", "ORPHA:488618": "Transketolase deficiency/Short stature, developmental delay, and congenital heart defects / Short stature-developmental delay-congenital heart defect syndrome / TKT deficiency", "OMIM:617044": "SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD", "ORPHA:488627": "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome/Neurodevelopmental disorder with microcephaly and gray sclerae", "OMIM:617051": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE; NEDMIGS", "ORPHA:488632": "TBCK-related intellectual disability syndrome/Hypotonia, infantile, with psychomotor retardation and characteristic facies 3", "OMIM:616900": "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3", "ORPHA:488642": "TELO2-related intellectual disability-neurodevelopmental disorder/You-Hoover-Fong syndrome", "OMIM:616954": "YOU-HOOVER-FONG SYNDROME; YHFS", "OMIM:616871": "MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO; MPLPF", "ORPHA:488650": "Distal myopathy, Tateyama type/Myopathy, distal, Tateyama type", "OMIM:614321": "MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT", "ORPHA:48918": "Focal myositis / Focal nodular myositis / Inflammatory pseudotumor of skeletal muscle", "OMIM:234030": "HAIR DEFECT WITH PHOTOSENSITIVITY AND IMPAIRED INTELLECTUAL DEVELOPMENT", "ORPHA:49": "Penile agenesis / Aphallia / Penis agenesis", "ORPHA:49041": "IgG4-related retroperitoneal fibrosis / Idiopathic retroperitoneal fibrosis / Ormond disease", "ORPHA:492": "Proliferating trichilemmal cyst", "ORPHA:493": "Familial keratoacanthoma / Hereditary keratoacanthoma / Multiple keratoacanthoma", "OMIM:125630": "VIBRATORY URTICARIA; VBU", "ORPHA:49382": "Achromatopsia/Achromatopsia 2 / ACHM / Complete or incomplete color blindness / Pingelapese blindness / Rod monochromacy / Rod monochromatism / Total color blindness", "OMIM:216900": "ACHROMATOPSIA 2; ACHM2", "ORPHA:494": "Keratoderma hereditarium mutilans/Vohwinkel syndrome / Mutilating keratoderma of Vohwinkel / Mutilating keratoderma plus deafness / Mutilating keratoderma plus hearing loss / PPK mutilans and deafness / PPK mutilans and hearing loss", "OMIM:124500": "VOHWINKEL SYNDROME; VOWNKL", "OMIM:617068": "PORTAL HYPERTENSION, NONCIRRHOTIC, 1; NCPH1", "OMIM:617053": "MIRAGE SYNDROME; MIRAGE", "OMIM:617763": "SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF", "OMIM:124900": "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; DFNA1", "ORPHA:140896": "Severe acute respiratory syndrome / SARS / SARS-1", "ORPHA:494526": "Infantile-onset generalized dyskinesia with orofacial involvement/Dyskinesia, limb and orofacial, infantile-onset / Infantile-onset orofacial-trunk-limbs dyskinesia", "OMIM:616921": "DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET; IOLOD", "ORPHA:494541": "Childhood-onset benign chorea with striatal involvement/Striatal degeneration, autosomal dominant 2", "OMIM:616922": "STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2; ADSD2", "ORPHA:495": "Transgrediens et progrediens palmoplantar keratoderma / Greither disease / Keratosis extremitatum hereditaria progrediens / Keratosis palmoplantaris transgrediens et progrediens / Progressive diffuse PPK / Progressive diffuse palmoplantar keratoderma / Transgrediens et progrediens PPK", "ORPHA:49566": "Acquired purpura fulminans", "ORPHA:140905": "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency/Hepatic lipase deficiency / Hyperlipidemia due to HL deficiency / Hyperlipidemia due to HTGL deficiency / Hyperlipidemia due to hepatic lipase deficiency / Hyperlipidemia due to hepatic triglyceride lipase deficiency", "OMIM:614025": "HEPATIC LIPASE DEFICIENCY", "OMIM:616881": "LEUKODYSTROPHY, HYPOMYELINATING, 13; HLD13", "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": "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT", "OMIM:617114": "MYOPATHY, MYOFIBRILLAR, 7; MFM7", "ORPHA:496689": "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome / Kyphoscoliosis-lateral tongue atrophy-HSP syndrome", "OMIM:616854": "EVEN-PLUS SYNDROME; EVPLS", "ORPHA:140908": "Brachydactyly type B2/Brachydactyly, type B2", "OMIM:611377": "BRACHYDACTYLY, TYPE B2; BDB2", "ORPHA:496756": "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome/Encephalopathy, progressive, with amyotrophy and optic atrophy", "OMIM:617207": "ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO", "ORPHA:496790": "Ocular anomalies-axonal neuropathy-developmental delay syndrome/Harel-Yoon syndrome", "OMIM:617183": "HAREL-YOON SYNDROME; HAYOS", "ORPHA:497764": "Spinocerebellar ataxia type 43 / SCA43", "OMIM:617054": "STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC", "OMIM:184460": "STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES", "ORPHA:49804": "Lichen amyloidosis / Amyloid lichen / Lichen amyloidosus", "ORPHA:49827": "Thiamine-responsive megaloblastic anemia syndrome/Thiamine-Responsive megaloblastic anemia syndrome / Rogers syndrome / TRMA / Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness / Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss", "OMIM:249270": "THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA", "OMIM:608807": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10", "OMIM:614091": "SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7", "OMIM:272150": "SUGARMAN BRACHYDACTYLY", "ORPHA:499": "Kerion celsi", "ORPHA:100093": "Carcinoid syndrome / Malignant 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 / LCHAD deficiency / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency", "OMIM:609016": "LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY", "ORPHA:50": "Aicardi syndrome/Aicardi syndrome / Agenesis of corpus callosum with chorioretinal abnormality", "OMIM:304050": "AICARDI SYNDROME; AIC", "ORPHA:500": "Noonan syndrome with multiple lentigines/Leopard syndrome 1 / Cardiomyopathic lentiginosis / Familial multiple lentigines syndrome / LEOPARD syndrome", "OMIM:151100": "LEOPARD SYNDROME 1; LPRD1", "ORPHA:140936": "Lelis syndrome / Ectodermal dysplasia-acanthosis nigricans syndrome", "ORPHA:500055": "16p13.2 microdeletion syndrome/Chromosome 16p13.2 deletion syndrome / Hao-Fountain syndrome due to 16p13.2 microdeletion / Del(16)(p13.2) / Monosomy 16p13.2", "OMIM:616863": "HAO-FOUNTAIN SYNDROME; HAFOUS", "OMIM:617099": "AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL RECESSIVE; AIPDSB", "ORPHA:500095": "Tall stature-intellectual disability-renal anomalies syndrome/Thauvin-Robinet-Faivre syndrome", "OMIM:617107": "THAUVIN-ROBINET-FAIVRE SYNDROME; TROFAS", "OMIM:236500": "MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY; MARCH", "ORPHA:500144": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome/Encephalopathy, progressive, early-onset, with brain atrophy and spasticity / Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome / PEBAS", "OMIM:617669": "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY; PEBAS", "ORPHA:500150": "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome/Zttk syndrome / ZTTK syndrome / Zhu-Tokita-Takenouchi-Kim syndrome", "OMIM:617140": "ZTTK SYNDROME; ZTTKS", "ORPHA:500159": "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom/Intellectual developmental disorder, autosomal dominant 48", "OMIM:617751": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48; MRD48", "ORPHA:500180": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder/Neurodegeneration, childhood-onset, with brain atrophy", "OMIM:617672": "NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY; CONDBA", "ORPHA:140941": "Short stature due to primary acid-labile subunit deficiency/Acid-labile subunit, deficiency of", "OMIM:615961": "ACID-LABILE SUBUNIT DEFICIENCY; ACLSD", "OMIM:301018": "DEAFNESS, X-LINKED 7; DFNX7", "ORPHA:500533": "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome/Polyhydramnios, megalencephaly, and symptomatic epilepsy / PMSE syndrome", "OMIM:611087": "POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE", "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": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM", "ORPHA:501": "Lafora disease/Myoclonic epilepsy of Lafora / EPM2 / PME type 2 / Progressive myoclonic epilepsy type 2 / Progressive myoclonus epilepsy type 2", "OMIM:254780": "MYOCLONIC EPILEPSY OF LAFORA 1; MELF1", "ORPHA:502": "Trichorhinophalangeal syndrome type 2/Trichorhinophalangeal syndrome, type II / Langer-Giedion syndrome", "OMIM:150230": "TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2", "OMIM:612918": "CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI", "ORPHA:502423": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome/Myopathy, mitochondrial, and ataxia / Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome", "OMIM:617675": "MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT", "ORPHA:502434": "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome/Mental retardation, autosomal dominant 47", "OMIM:617635": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47; MRD47", "OMIM:617762": "LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO", "ORPHA:50251": "Pleural mesothelioma/Mesothelioma, malignant", "OMIM:156240": "MESOTHELIOMA, MALIGNANT; MESOM", "ORPHA:503": "Larsen syndrome/Larsen syndrome", "OMIM:150250": "LARSEN SYNDROME; LRS", "ORPHA:504476": "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome / CABV syndrome / CANVAS / Cerebellar ataxia with bilateral vestibulopathy syndrome", "OMIM:617514": "IMMUNODEFICIENCY 52; IMD52", "OMIM:300988": "IMMUNODEFICIENCY 50; IMD50", "ORPHA:505": "Graham Little-Piccardi-Lassueur syndrome / Graham Little syndrome / Piccardi-Lassueur-Little syndrome", "ORPHA:505216": "3-methylglutaconic aciduria type 9/3-methylglutaconic aciduria, type IX / 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome / MGA9", "OMIM:617698": "3-METHYLGLUTACONIC ACIDURIA, TYPE IX; MGCA9", "OMIM:617827": "IMMUNODEFICIENCY 55; IMD55", "ORPHA:140952": "Syndactyly-telecanthus-anogenital and renal malformations syndrome/STAR syndrome", "OMIM:300707": "TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR", "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": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES; IDDFSDA", "OMIM:617595": "BIRK-LANDAU-PEREZ SYNDROME; BILAPES", "ORPHA:505248": "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders/Mucopolysaccharidosis-Plus syndrome / Mucopolysaccharidosis-like plus disease", "OMIM:617303": "MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME; MPSPS", "ORPHA:505652": "CDKL5-deficiency disorder/Developmental and epileptic encephalopathy 2 / CDD", "OMIM:300672": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2", "ORPHA:506": "Leigh syndrome/Leigh syndrome / Infantile subacute necrotizing encephalopathy / Leigh disease", "OMIM:256000": "LEIGH SYNDROME, NUCLEAR; NULS", "OMIM:243605": "STROMME SYNDROME; STROMS", "OMIM:617575": "RENI SYNDROME; RENI", "ORPHA:506353": "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction / Autosomal recessive complex SPG due to Kennedy pathway dysfunction / Autosomal recessive spastic paraplegia type 81", "ORPHA:506358": "Gabriele-de Vries syndrome/Gabriele-De vries syndrome / YY1 haploinsufficiency syndrome", "OMIM:617557": "GABRIELE-DE VRIES SYNDROME; GADEVS", "ORPHA:507": "Leishmaniasis", "ORPHA:508": "Leprechaunism/Donohue syndrome", "OMIM:246200": "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 / Singh-Williams-McAlister syndrome", "OMIM:609655": "TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS", "ORPHA:508093": "MEPAN syndrome/Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities / Autosomal recessive childhood-onset dystonia, DYT29 type / Childhood-onset generalized dystonia-optic atrophy syndrome / Dystonia 29 / Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome", "OMIM:617282": "DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES; DYTOABG", "ORPHA:50810": "Microlissencephaly-micromelia syndrome / Basel-Vanagaite-Sirota syndrome", "ORPHA:50811": "Lipodystrophy-intellectual disability-deafness syndrome/Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones / Lipodystrophy-intellectual disability-hearing loss syndrome / Rajab-Spranger syndrome", "OMIM:608154": "LIPODYSTROPHY, GENERALIZED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, DEAFNESS, SHORT STATURE, AND SLENDER BONES", "ORPHA:50812": "Zellweger-like syndrome without peroxisomal anomalies / Ahn-Lerman-Sagie syndrome", "ORPHA:50814": "Craniolenticulosutural dysplasia/Craniolenticulosutural dysplasia / Boyadjiev-Jabs syndrome", "OMIM:607812": "CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD", "ORPHA:50815": "Branchiogenic deafness syndrome/Branchiogenic-deafness syndrome / Branchiogenic hearing loss syndrome / Mégarbané-Loiselet syndrome", "OMIM:609166": "BRANCHIOGENIC-DEAFNESS SYNDROME", "ORPHA:50817": "Duane anomaly-myopathy-scoliosis syndrome / Verloes-Deprez syndrome", "ORPHA:508410": "Familial intestinal malrotation", "ORPHA:140966": "Palmoplantar keratoderma, Nagashima type/Palmoplantar keratoderma, Nagashima type / PPK, Nagashima type / Palmoplantar hyperkeratosis, Nagashima type", "OMIM:615598": "PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN", "ORPHA:508488": "8q24.3 microdeletion syndrome / Del(8)(q24.3) / Deletion 8q24.3 / Monosomy 8q24.3", "OMIM:617384": "HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4", "OMIM:617294": "EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY; EBS6", "ORPHA:509": "Leptospirosis", "ORPHA:50918": "Kikuchi-Fujimoto disease / Histiocytic necrotizing lymphadenitis / Kikuchi disease", "ORPHA:50942": "Striate palmoplantar keratoderma / Keratosis palmoplantaris striata / Keratosis palmoplantaris striata et areata / Keratosis palmoplantaris varians of Wachters", "ORPHA:50943": "Keratolytic winter erythema/Keratolytic winter erythema / Erythrokeratolysis hiemalis / Oudtshoorn disease", "OMIM:148370": "KERATOLYTIC WINTER ERYTHEMA; KWE", "ORPHA:50944": "Schöpf-Schulz-Passarge syndrome/Schopf-Schulz-Passarge syndrome / Eccrine tumors-ectodermal dysplasia / Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome / Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome / Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome / SSPS", "OMIM:224750": "SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS", "ORPHA:50945": "Blomstrand lethal chondrodysplasia/Chondrodysplasia, Blomstrand type / BLC / BOCD / Blomstrand chondrodysplasia / Blomstrand osteochondrodysplasia", "OMIM:215045": "CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD", "ORPHA:51": "Aicardi-Goutières syndrome / Encephalopathy with basal ganglia calcification / Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid", "ORPHA:510": "Lesch-Nyhan syndrome/Lesch-Nyhan syndrome / HPRT complete deficiency / HPRT deficiency grade IV / Hypoxanthine guanine phosphoribosyltransferase complete deficiency / Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV", "OMIM:300322": "LESCH-NYHAN SYNDROME; LNS", "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": "SHORT QT SYNDROME 1; SQT1", "ORPHA:140976": "RHYNS syndrome/Rhyns syndrome / Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome", "OMIM:602152": "RHYNS SYNDROME; RHYNS", "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 / BCKD deficiency / BCKDH deficiency / Branched-chain 2-ketoacid dehydrogenase deficiency / Branched-chain ketoaciduria", "OMIM:248600": "MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A", "ORPHA:51188": "Ethylmalonic encephalopathy/Encephalopathy, ethylmalonic", "OMIM:602473": "ENCEPHALOPATHY, ETHYLMALONIC; EE", "ORPHA:512": "Metachromatic leukodystrophy/Metachromatic leukodystrophy / Arylsulfatase A deficiency / MLD", "OMIM:250100": "METACHROMATIC LEUKODYSTROPHY; MLD", "ORPHA:51208": "Formiminoglutamic aciduria/Formiminotransferase deficiency / FTCD deficiency / Formiminotransferase cyclodeaminase deficiency / Glutamate formiminotransferase deficiency", "OMIM:229100": "GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY", "ORPHA:512260": "Congenital cerebellar ataxia due to RNU12 mutation", "OMIM:613065": "LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL", "ORPHA:513436": "Autosomal recessive spastic paraplegia type 78/Spastic paraplegia 78, autosomal recessive / SPG78", "OMIM:617225": "SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78", "ORPHA:140989": "Primary angiitis of the central nervous system / Isolated angiitis of the central nervous system / PACNS / PCNSV / Primary central nervous system vasculitis / Primary vasculitis of the central nervous system", "ORPHA:513456": "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome/Skraban-Deardorff syndrome", "OMIM:617616": "SKRABAN-DEARDORFF SYNDROME; SKDEAS", "ORPHA:514": "Acute monoblastic/monocytic leukemia / AML M5 / Acute monoblastic or monocytic leukemia", "ORPHA:51636": "WHIM syndrome/Whim syndrome / WILM / Warts-hypogammaglobulinemia-infections-myelokathexis syndrome / Warts-infections-leukopenia-myelokatexis syndrome", "OMIM:193670": "WHIM SYNDROME 1; WHIMS1", "ORPHA:517": "Acute myelomonocytic leukemia / AML M4 / AMMoL", "OMIM:601626": "LEUKEMIA, ACUTE MYELOID; AML", "ORPHA:141": "Canavan disease/Canavan disease / ACY2 deficiency / Aminoacylase 2 deficiency / Aspartoacylase deficiency / Spongy degeneration of the brain", "OMIM:271900": "CANAVAN DISEASE", "ORPHA:1410": "Uncombable hair syndrome / Pili trianguli et canaliculi", "OMIM:612913": "OROFACIODIGITAL SYNDROME XI; OFD11", "OMIM:258865": "OROFACIODIGITAL SYNDROME IX; OFD9", "OMIM:617319": "ANTERIOR SEGMENT DYSGENESIS 8; ASGD8", "OMIM:113600": "BRANCHIAL CLEFT ANOMALIES", "ORPHA:52": "Alagille syndrome/Alagille syndrome 1 / Alagille-Watson syndrome / Arteriohepatic dysplasia / Syndromic bile duct paucity", "OMIM:118450": "ALAGILLE SYNDROME 1; ALGS1", "ORPHA:520": "Acute promyelocytic leukemia/Acute promyelocytic leukemia / AML M3 / AML with t(15;17)(q22;q12);(PML/RARalpha) and variants / APML / Acute myeloblastic leukemia 3 / Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants", "OMIM:612376": "ACUTE PROMYELOCYTIC LEUKEMIA; APL", "ORPHA:52022": "Potocki-Shaffer syndrome/Potocki-Shaffer syndrome / 11p11.2 deletion / Proximal 11p deletion syndrome", "OMIM:601224": "POTOCKI-SHAFFER SYNDROME", "ORPHA:52047": "Braddock syndrome / Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency", "ORPHA:52055": "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome/Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia / Graham-Cox syndrome", "OMIM:300472": "CORPUS CALLOSUM, AGENESIS OF, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OCULAR COLOBOMA, AND MICROGNATHIA", "ORPHA:52056": "Ulnar/fibula ray defect-brachydactyly syndrome / Morava-Mehes syndrome", "ORPHA:521": "Chronic myeloid leukemia/Leukemia, chronic myeloid / CML / Chronic granulocytic leukemia / Chronic myelogenous leukemia", "OMIM:608232": "LEUKEMIA, CHRONIC MYELOID; CML", "ORPHA:521258": "Xq25 microduplication syndrome/Xq25 duplication syndrome / Dup(X)(q25) / Xq25 microtriplication", "OMIM:300979": "CHROMOSOME 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 / Albright hereditary osteodystrophy type 3 / Albright hereditary osteodystrophy-like syndrome / Brachydactyly-intellectual disability syndrome / Del(2)(q37) / Deletion 2q37 / Monosomy 2q37qter", "OMIM:600430": "CHROMOSOME 2q37 DELETION SYNDROME", "ORPHA:521390": "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome/Spastic paraplegia, intellectual disability, nystagmus, and obesity / SINO syndrome", "OMIM:617296": "SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO", "ORPHA:521406": "Dystonia-parkinsonism-hypermanganesemia syndrome/Hypermanganesemia with dystonia 2", "OMIM:617013": "HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2", "ORPHA:521411": "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect / Autosomal recessive axonal CMT due to copper metabolism defect", "OMIM:618036": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD; CMT2DD", "ORPHA:521426": "PLAA-associated neurodevelopmental disorder/Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies / PLAAND", "OMIM:617527": "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA", "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 / BAGOS / SYT1-related neurodevelopmental disorder", "OMIM:618218": "BAKER-GORDON SYNDROME; BAGOS", "ORPHA:523": "Hereditary leiomyomatosis and renal cell cancer/Hereditary leiomyomatosis and renal cell cancer / Familial leiomyomatosis and renal cell cancer / Familial leiomyomatosis cutis et uteri / Familial leiomyomatosis with renal carcinoma / Familial multiple cutaneous leiomyomas / HLRCC / Hereditary leiomyomatosis with renal carcinoma / Hereditary multiple cutaneous leiomyomas / MCUL / Multiple cutaneous and uterine leiomyomas / Reed syndrome", "OMIM:150800": "HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC", "ORPHA:52368": "Mohr-Tranebjaerg syndrome/Mohr-Tranebjaerg syndrome / DDON syndrome / Deafness-dystonia-optic neuronopathy syndrome / Hearing loss-dystonia-optic neuronopathy syndrome", "OMIM:304700": "MOHR-TRANEBJAERG SYNDROME; MTS", "ORPHA:524": "Li-Fraumeni syndrome/Li-Fraumeni syndrome", "OMIM:151623": "LI-FRAUMENI SYNDROME; LFS", "ORPHA:52416": "Mantle cell lymphoma / LCM / MCL / Mantle zone lymphoma", "ORPHA:52417": "MALT lymphoma/Gastric lymphoma, primary / Extranodal marginal zone B-cell lymphoma / MALToma / Mucosa-associated lymphatic tissue lymphoma / Mucosa-associated lymphoid tissue lymphoma", "OMIM:137245": "LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE", "ORPHA:52427": "Retinitis punctata albescens / RPA", "ORPHA:52429": "Branchiootic syndrome/Branchiootic syndrome 1", "OMIM:602588": "BRANCHIOOTIC SYNDROME 1; BOS1", "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 / IBMPFD / Limb-girdle muscular dystrophy with Paget disease of bone / Pagetoid amyotrophic lateral sclerosis / Pagetoid neuroskeletal syndrome", "OMIM:167320": "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1", "ORPHA:525": "Lichen planopilaris / LPP / Follicular lichen planus / Lichen follicularis / Lichen planus follicularis", "ORPHA:52503": "X-linked creatine transporter deficiency/Cerebral creatine deficiency syndrome 1 / Creatine transporter deficiency / SLC6A8 deficiency", "OMIM:300352": "CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1", "OMIM:177820": "VON WILLEBRAND DISEASE, PLATELET-TYPE; VWDP", "ORPHA:525731": "Pediatric-onset Graves disease / Pediatric-onset Basedow disease", "ORPHA:526": "Liddle syndrome / Pseudoaldosteronism", "OMIM:614286": "MYELODYSPLASTIC SYNDROME; MDS", "OMIM:617662": "JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM", "ORPHA:527497": "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy/Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy / Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia / SPAX8", "OMIM:617560": "SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8", "ORPHA:528": "Congenital generalized lipodystrophy / BSCL / Berardinelli-Seip congenital lipodystrophy / Berardinelli-Seip syndrome / CGL / Lipoatrophic diabetes", "OMIM:617021": "HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA", "ORPHA:529": "Roch-Leri mesosomatous lipomatosis", "ORPHA:52901": "Isolated follicle stimulating hormone deficiency/Hypogonadotropic hypogonadism 24 without anosmia / Isolated FSH deficiency", "OMIM:229070": "HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA; HH24", "ORPHA:529665": "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome/Glycosylphosphatidylinositol biosynthesis defect 15 / GPAA1-related biosynthesis defect", "OMIM:617810": "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15", "ORPHA:529799": "Acute bilirubin encephalopathy / ABE / Acute kernicterus", "ORPHA:529808": "Chronic bilirubin encephalopathy / BIND / Bilirubin-induced neurological dysfunction / CBE / KSD / Kernicterus spectrum disorder", "ORPHA:529962": "17q24.2 microdeletion syndrome / Del(17)(q24)", "ORPHA:529965": "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome/Pilarowski-Bjornsson syndrome", "OMIM:617682": "PILAROWSKI-BJORNSSON SYNDROME; PILBOS", "ORPHA:529970": "Male infertility due to acephalic spermatozoa / Acephalic spermatozoa syndrome", "ORPHA:53": "Albers-Schönberg osteopetrosis/Osteopetrosis, autosomal dominant 2 / Osteopetrosis autosomal dominant type 2", "OMIM:166600": "OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2", "ORPHA:100100": "Thymic tumor", "ORPHA:530": "Lipoid proteinosis/Urbach-Wiethe disease / Hyalinosis cutis et mucosae", "OMIM:247100": "LIPOID PROTEINOSIS OF URBACH AND WIETHE", "ORPHA:53035": "Caroli disease", "ORPHA:530838": "KRT1-related diffuse nonepidermolytic keratoderma/Palmoplantar keratoderma, nonepidermolytic / KRT1-related diffuse NEPPK", "OMIM:600962": "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK", "OMIM:144650": "HYPERLIPOPROTEINEMIA, TYPE V", "ORPHA:141096": "Supernumerary nostril / Accessory nostril", "ORPHA:531": "Miller-Dieker syndrome/Miller-Dieker lissencephaly syndrome / Lissencephaly due to 17p13.3 deletion / Monosomy 17p13.3 / Telomeric deletion 17p", "OMIM:247200": "MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS", "ORPHA:531151": "9q21.13 microdeletion syndrome", "ORPHA:53271": "Muenke syndrome/Muenke syndrome", "OMIM:602849": "MUENKE SYNDROME; MNKES", "ORPHA:53296": "Familial cutaneous collagenoma/Collagenoma, familial cutaneous", "OMIM:115250": "COLLAGENOMA, FAMILIAL CUTANEOUS", "OMIM:601003": "BRODY DISEASE; BROD", "ORPHA:53351": "X-linked dystonia-parkinsonism/Dystonia 3, torsion, X-linked / DYT3 / Lubag / Lubag syndrome / XDP", "OMIM:314250": "DYSTONIA 3, TORSION, X-LINKED; DYT3", "ORPHA:53372": "Hereditary geniospasm/Geniospasm 1 / Familial trembling of the chin / Hereditary chin myoclonus / Hereditary chin-trembling", "OMIM:190100": "GENIOSPASM 1; GSM1", "ORPHA:534": "Oculocerebrorenal syndrome of Lowe/Lowe syndrome / Lowe disease / Lowe oculo-cerebro-renal dystrophy / Lowe oculo-cerebro-renal syndrome / Lowe oculocerebrorenal dystrophy / OCRL / Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency", "OMIM:309000": "LOWE OCULOCEREBRORENAL SYNDROME; OCRL", "ORPHA:535": "Rare cutaneous lupus erythematosus", "OMIM:268100": "ENHANCED S-CONE SYNDROME; ESCS", "OMIM:246650": "LIPASE DEFICIENCY, COMBINED", "OMIM:615947": "HYPERLIPOPROTEINEMIA, TYPE ID", "ORPHA:53583": "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity/Dystonia 9 / DYT9 / Episodic choreoathetosis/spasticity", "OMIM:601042": "DYSTONIA 9; DYT9", "ORPHA:536467": "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, spondylodysplastic type, 2 / B3GALT6-related spEDS / B3GALT6-related spondylodysplastic EDS / Beta3GalT6-deficient EDS / Ehlers-Danlos syndrome progeroid type 2 / spEDS-B3GALT6", "OMIM:615349": "EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2", "ORPHA:536532": "Classical-like Ehlers-Danlos syndrome type 2/Ehlers-Danlos syndrome, classic-like, 2 / AEBP1-related EDS / AEBP1-related Ehlers-Danlos syndrome / Classical-like EDS type 2 / clEDS type 2", "OMIM:618000": "EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2", "OMIM:214700": "DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1", "OMIM:223000": "LACTASE DEFICIENCY, CONGENITAL", "ORPHA:53693": "GRACILE syndrome/Gracile syndrome / Fellman disease / Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome", "OMIM:603358": "GRACILE SYNDROME", "OMIM:611890": "CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; CAAHD", "ORPHA:53697": "Gnathodiaphyseal dysplasia/Gnathodiaphyseal dysplasia / GDD", "OMIM:166260": "GNATHODIAPHYSEAL DYSPLASIA; GDD", "ORPHA:537": "Toxic epidermal necrolysis / Lyell syndrome", "ORPHA:53715": "Familial tumoral calcinosis", "ORPHA:53719": "Wyburn-Mason syndrome / Bonnet-Dechaume-Blanc syndrome / CAMS2 / Cerebrofacial arteriovenous metameric syndrome type 2", "ORPHA:53721": "Spinal arteriovenous metameric syndrome / Cobb syndrome / Cutaneomeningospinal angiomatosis / SAMS 1-31", "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": "LYMPHANGIOLEIOMYOMATOSIS; LAM", "OMIM:190340": "DISCOID FIBROMAS, FAMILIAL MULTIPLE; FMDF", "OMIM:308240": "LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1", "OMIM:300635": "LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2", "OMIM:618261": "LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3", "OMIM:613011": "LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1", "ORPHA:54": "X-linked recessive ocular albinism/Albinism, ocular, type I / OA1 / Ocular albinism type 1 / Ocular albinism, Nettleship-Falls type / XLOA", "OMIM:300500": "ALBINISM, OCULAR, TYPE I; OA1", "ORPHA:540": "Familial hemophagocytic lymphohistiocytosis/Hemophagocytic lymphohistiocytosis, familial, 1 / Familial HLH", "OMIM:267700": "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1", "ORPHA:54028": "Plummer-Vinson syndrome / Kelly-Paterson syndrome / Sideropenic dysphagia", "ORPHA:54057": "Thrombotic thrombocytopenic purpura / Moschcowitz disease / TTP", "ORPHA:541423": "Growth delay-intellectual disability-hepatopathy syndrome/Growth retardation, impaired intellectual development, hypotonia, and hepatopathy", "OMIM:617093": "GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH", "OMIM:618131": "IMMUNODEFICIENCY 58; IMD58", "ORPHA:542306": "GNB5-related intellectual disability-cardiac arrhythmia syndrome/Intellectual developmental disorder with cardiac arrhythmia", "OMIM:617173": "LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA; LDMLS1", "ORPHA:542310": "Leukoencephalopathy with calcifications and cysts/Leukoencephalopathy, brain calcifications, and cysts / LCC / Labrune syndrome", "OMIM:614561": "LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC", "ORPHA:54247": "Posterior cortical atrophy / Benson syndrome / Biparietal Alzheimer disease / PCA", "ORPHA:54251": "Corticosteroid-sensitive aseptic abscess syndrome / Aseptic abscess syndrome / Aseptic abscesses syndrome / Aseptic systemic abscesses / Disseminated aseptic abscesses", "OMIM:617717": "AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA", "CCRD:52.4": "左室致密化不全（LVNC）/Left ventricular non-compaction; LVNC/Left ventricular noncompaction 1", "OMIM:604169": "LEFT VENTRICULAR NONCOMPACTION 1; LVNC1", "OMIM:143860": "HYPERCHLORHIDROSIS, ISOLATED; HYCHL", "ORPHA:543": "Burkitt lymphoma/Burkitt lymphoma / Small non-cleaved cell lymphoma", "OMIM:113970": "BURKITT LYMPHOMA; BL", "ORPHA:54370": "Primary membranoproliferative glomerulonephritis / Mesangiocapillary glomerulonephritis / Primary MPGN", "ORPHA:544469": "PRUNE1-related neurological syndrome/Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "OMIM:617481": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA", "ORPHA:544503": "RNF13-related severe early-onset epileptic encephalopathy/Developmental and epileptic encephalopathy 73 / RNF13-related severe EOEE", "OMIM:618379": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73", "ORPHA:141127": "Congenital tracheal stenosis", "OMIM:618414": "CONGENITAL MYOPATHY 14; CMYO14", "ORPHA:545": "Follicular lymphoma", "ORPHA:54595": "Craniopharyngioma", "ORPHA:549": "Legionnaires disease", "ORPHA:55": "Oculocutaneous albinism / OCA", "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 / Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes / Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes / Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes", "OMIM:540000": "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS", "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 / Fukuhara syndrome / Myoclonus epilepsy associated with ragged-red fibres", "OMIM:545000": "MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF", "ORPHA:552": "MODY / Maturity-onset diabetes of the young", "OMIM:618321": "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2; PEBEL2", "OMIM:617186": "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1", "OMIM:608423": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2", "OMIM:609115": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3; LGMDD3", "ORPHA:556": "Malakoplakia", "ORPHA:556030": "Early-onset familial hypoaldosteronism / Early-onset familial hyperreninemic hypoaldosteronism / Severe aldosterone synthase deficiency", "ORPHA:556037": "Late-onset familial hypoaldosteronism / Late-onset familial hyperreninemic hypoaldosteronism / Mild aldosterone synthase deficiency", "ORPHA:55654": "Hypotrichosis simplex/Hypotrichosis 1 / Hereditary hypotrichosis simplex", "OMIM:605389": "HYPOTRICHOSIS 1; HYPT1", "ORPHA:557": "Non-syndromic anorectal malformation/Anorectal anomalies / Non-syndromic ARM", "OMIM:107100": "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 OF LONG BONES", "ORPHA:559": "Marinesco-Sjögren syndrome/Marinesco-Sjogren syndrome", "OMIM:248800": "MARINESCO-SJOGREN SYNDROME; MSS", "ORPHA:56": "Alkaptonuria/Alkaptonuria / Hereditary ochronosis / Homogentisic acid oxidase deficiency", "OMIM:203500": "ALKAPTONURIA; AKU", "ORPHA:560": "Marshall syndrome/Marshall syndrome", "OMIM:154780": "MARSHALL SYNDROME; MRSHS", "ORPHA:561": "Marshall-Smith syndrome/Marshall-Smith syndrome / Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome", "OMIM:602535": "MARSHALL-SMITH SYNDROME; MRSHSS", "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 SYNDROME; MAS", "ORPHA:141152": "Isolated congenital hypoglossia/aglossia/Hypoglossia with situs inversus", "OMIM:612776": "HYPOGLOSSIA WITH SITUS INVERSUS", "ORPHA:563": "Peripartum cardiomyopathy / Postpartum cardiomyopathy", "ORPHA:56304": "Atelosteogenesis type II/Atelosteogenesis, type II / AO2 / AOII / Atelosteogenesis type 2 / De la Chapelle dysplasia / Neonatal osseous dysplasia type 1", "OMIM:256050": "ATELOSTEOGENESIS, TYPE II; AO2", "ORPHA:56305": "Atelosteogenesis type III/Atelosteogenesis, type III / AO3 / AOIII / Atelosteogenesis type 3", "OMIM:108721": "ATELOSTEOGENESIS, TYPE III; AO3", "ORPHA:564": "Meckel syndrome/Meckel syndrome 1 / Dysencephalia splanchnocystica / Meckel-Gruber syndrome", "OMIM:249000": "MECKEL SYNDROME, TYPE 1; MKS1", "ORPHA:56425": "Cold agglutinin disease / CAD / CAS / Chronic cold agglutinin disease / Cold agglutinin syndrome", "ORPHA:565": "Menkes disease/Menkes disease / MD / Menkes kinky hair disease / Menkes syndrome", "OMIM:309400": "MENKES DISEASE; MNK", "ORPHA:566": "Congenital microcoria/Microcoria, congenital / Congenital miosis", "OMIM:156600": "MICROCORIA, CONGENITAL", "ORPHA:567": "22q11.2 deletion syndrome / 22q11DS / CATCH 22 / Cayler cardiofacial syndrome / Conotruncal anomaly face syndrome / DiGeorge sequence / DiGeorge syndrome / Microdeletion 22q11.2 / Monosomy 22q11 / Sedlackova syndrome / Shprintzen syndrome / Takao syndrome / Velocardiofacial syndrome", "ORPHA:568": "Microphthalmia, Lenz type / Lenz microphthalmia", "ORPHA:569": "Familial or sporadic hemiplegic migraine", "ORPHA:57": "Glycogen storage disease due to aldolase A deficiency/Glycogen storage disease XII / GSD due to aldolase A deficiency / GSD type 12 / GSD type XII / Glycogen storage disease type 12 / Glycogen storage disease type XII / Glycogenosis due to aldolase A deficiency / Glycogenosis type 12 / Glycogenosis type XII", "OMIM:611881": "GLYCOGEN STORAGE DISEASE XII; GSD12", "ORPHA:570": "Moebius syndrome/Moebius syndrome / Möbius syndrome", "OMIM:157900": "MOEBIUS SYNDROME; MBS", "ORPHA:57196": "Medial condensing osteitis of the clavicle / Osteitis condensans of the clavicle", "ORPHA:572": "Immunodeficiency by defective expression of MHC class II/Bare lymphocyte syndrome, type II / Bare lymphocyte syndrome type 2 / MHC class II deficiency", "OMIM:209920": "MHC CLASS II DEFICIENCY 1; MHC2D1", "ORPHA:573": "Monilethrix/Monilethrix / Moniliform hair syndrome", "OMIM:158000": "MONILETHRIX 1; MNLIX1", "ORPHA:575": "Muckle-Wells syndrome/Muckle-Wells syndrome / Neutrophilic urticaria", "OMIM:191900": "MUCKLE-WELLS SYNDROME; MWS", "ORPHA:576": "Mucolipidosis type II/Mucolipidosis II alpha/beta / I-cell disease / Mucolipidosis type II alpha/beta / N-acetylglucosamine 1-phosphotransferase deficiency", "OMIM:252500": "MUCOLIPIDOSIS II ALPHA/BETA", "ORPHA:577": "Mucolipidosis type III / Pseudo-Hurler polydystrophy", "ORPHA:57782": "Mazabraud syndrome / Myxoma with fibrous dysplasia", "ORPHA:578": "Mucolipidosis type IV/Mucolipidosis IV", "OMIM:252650": "MUCOLIPIDOSIS IV; ML4", "ORPHA:579": "Mucopolysaccharidosis type 1 / Alpha-L-iduronidase deficiency / MPS1 / Mucopolysaccharidosis type I", "ORPHA:58": "Alexander disease/Alexander disease / AxD", "OMIM:203450": "ALEXANDER DISEASE; ALXDRD", "ORPHA:580": "Mucopolysaccharidosis type 2/Mucopolysaccharidosis, type II / Hunter syndrome / Iduronate 2-sulfatase deficiency / MPS2 / MPSII / Mucopolysaccharidosis type II", "OMIM:309900": "MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2", "ORPHA:581": "Mucopolysaccharidosis type 3 / MPS3 / MPSIII / Mucopolysaccharidosis type III / Sanfilippo disease / Sanfilippo syndrome", "ORPHA:582": "Mucopolysaccharidosis type 4 / MPS4 / MPSIV / Morquio disease / Mucopolysaccharidosis type IV", "ORPHA:583": "Mucopolysaccharidosis type 6/Mucopolysaccharidosis, type VI / ARSB deficiency / ASB deficiency / Arylsulfatase B deficiency / MPS6 / MPSVI / Maroteaux-Lamy disease / Mucopolysaccharidosis type VI / N-acetylgalactosamine 4-sulfatase deficiency", "OMIM:253200": "MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6", "ORPHA:1003": "Scalp defects-postaxial polydactyly syndrome/Scalp defects and postaxial polydactyly", "OMIM:181250": "SCALP DEFECTS AND POSTAXIAL POLYDACTYLY", "ORPHA:141179": "Non-involuting congenital hemangioma / NICH", "ORPHA:584": "Mucopolysaccharidosis type 7/Mucopolysaccharidosis VII / Beta-glucuronidase deficiency / MPS7 / MPSVII / Mucopolysaccharidosis type VII / Sly disease", "OMIM:253220": "MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7", "ORPHA:585": "Multiple sulfatase deficiency/Multiple sulfatase deficiency / Austin disease / MSD / Mucosulfatidosis", "OMIM:272200": "MULTIPLE SULFATASE DEFICIENCY; MSD", "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 / Mucoviscidosis", "OMIM:219700": "CYSTIC FIBROSIS; CF", "ORPHA:587": "Muir-Torre syndrome/Muir-Torre syndrome / Multiple keratoacanthoma, Muir-Torre type", "OMIM:158320": "MUIR-TORRE SYNDROME; MRTES", "ORPHA:588": "Muscle-eye-brain disease / MEB syndrome / Muscle-eye-brain syndrome / Santavuori congenital muscular dystrophy", "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 / Acquired myasthenia / Autoimmune myasthenia gravis", "OMIM:254200": "MYASTHENIA GRAVIS; MG", "ORPHA:59": "Allan-Herndon-Dudley syndrome/Allan-Herndon-Dudley syndrome / AHDS / MCT8 deficiency / Monocarboxylate transporter 8 deficiency / X-linked intellectual disability-hypotonia syndrome", "OMIM:300523": "ALLAN-HERNDON-DUDLEY SYNDROME; AHDS", "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 / Laing distal myopathy / Distal myopathy type 1 / MPD1", "OMIM:160500": "MYOPATHY, DISTAL, 1; MPD1", "ORPHA:141184": "Rapidly involuting congenital hemangioma / RICH", "ORPHA:59181": "Sorsby pseudoinflammatory fundus dystrophy/Sorsby fundus dystrophy", "OMIM:136900": "SORSBY FUNDUS DYSTROPHY; SFD", "ORPHA:592": "Macrophagic myofasciitis / MMF", "ORPHA:59303": "Neonatal ichthyosis-sclerosing cholangitis syndrome/Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis / IHSC / Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome / NISCH syndrome", "OMIM:607626": "ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC", "ORPHA:59315": "Rhombencephalosynapsis", "ORPHA:596": "X-linked centronuclear myopathy/Myopathy, centronuclear, X-linked / X-linked myotubular myopathy / XLCNM / XLMTM", "OMIM:310400": "MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX", "ORPHA:597": "Central core disease/Central core disease", "OMIM:117000": "CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA; CMYO1A", "ORPHA:598": "Multiminicore myopathy / MmD / Multiminicore disease", "ORPHA:6": "3-methylcrotonyl-CoA carboxylase deficiency / 3-methylcrotonylglycinuria / MCC deficiency / MCCD", "ORPHA:60": "Alpha-1-antitrypsin deficiency/Alpha-1-Antitrypsin deficiency / Alpha-1-proteinase inhibitor deficiency / Alpha1-antitrypsin deficiency", "OMIM:613490": "ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD", "ORPHA:600": "Vocal cord and pharyngeal distal myopathy / Distal myopathy with vocal cord weakness / MATR3-related distal myopathy / VCPDM", "ORPHA:60015": "Enlarged parietal foramina/Parietal foramina / Catlin marks / Fenestrae parietales symmetricae / Foramina parietalia permagna / Hereditary cranium bifidum / Symmetric parietal foramina", "OMIM:168500": "PARIETAL FORAMINA 1; PFM1", "ORPHA:60025": "Pulmonary alveolar microlithiasis/Pulmonary alveolar microlithiasis", "OMIM:265100": "PULMONARY ALVEOLAR MICROLITHIASIS; PULAM", "ORPHA:60026": "Pulmonary nodular lymphoid hyperplasia / Pulmonary pseudolymphoma", "ORPHA:60030": "Loeys-Dietz syndrome/Loeys-Dietz syndrome 1 / Aortic aneurysm syndrome due to TGF-beta receptors anomalies", "OMIM:609192": "LOEYS-DIETZ SYNDROME 1; LDS1", "ORPHA:60032": "Recurrent respiratory papillomatosis", "ORPHA:60033": "Idiopathic bronchiectasis", "ORPHA:60039": "Pudendal neuralgia / Pudendal nerve entrapment syndrome / Alcock syndrome / Pudendal algia / Pudendal neuralgia by pudendal nerve entrapment / Pudendal neuropathic pain syndrome / Pudendal neuropathy / Pudendalgia", "ORPHA:60040": "Megalencephaly-capillary malformation-polymicrogyria syndrome/Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic / MCAP / MCM / MCMTC / Macrocephaly-capillary malformation syndrome / Macrocephaly-cutis marmorata telangiectatica congenita syndrome / Megalencephaly-capillary malformation syndrome / Megalencephaly-cutis marmorata telangiectatica congenita syndrome", "OMIM:602501": "MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP", "OMIM:234700": "HEART BLOCK, CONGENITAL", "ORPHA:602": "GNE myopathy/Nonaka myopathy / DMRV / Distal myopathy with rimmed vacuoles / Distal myopathy, Nonaka type / HIBM2 / Hereditary inclusion body myopathy type 2 / Inclusion body myopathy type 2 / Quadriceps-sparing myopathy", "OMIM:605820": "NONAKA MYOPATHY; NM", "ORPHA:603": "Distal myopathy, Welander type/Welander distal myopathy / WDM", "OMIM:604454": "WELANDER DISTAL MYOPATHY; WDM", "ORPHA:606": "Proximal myotonic myopathy/Dystrophia myotonica 2 / Myotonic dystrophy type 2 / Proximal myotonic dystrophy / Ricker disease / Ricker syndrome", "OMIM:602668": "MYOTONIC DYSTROPHY 2; DM2", "ORPHA:609": "Tibial muscular dystrophy/Tibial muscular dystrophy, tardive / TMD / Distal myopathy, Udd type / Distal titinopathy / Finnish tibial muscular dystrophy / Udd myopathy", "OMIM:600334": "TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD", "ORPHA:61": "Alpha-mannosidosis/Alpha-mannosidosis / Lysosomal alpha-D-mannosidase deficiency", "OMIM:248500": "MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA", "ORPHA:610": "Bethlem myopathy/Bethlem myopathy 1 / Bethlem muscular dystrophy / LGMD D5 collagen 6-related dystrophy / LGMD D5 collagen VI-related dystrophy / LGMD R22 collagen 6-related dystrophy / LGMD R22 collagen VI-related dystrophy / Mild form of COL6-related dystrophy / Mild form of collagen VI-related dystrophy", "OMIM:158810": "BETHLEM MYOPATHY 1A; BTHLM1A", "ORPHA:611": "Inclusion body myositis/Inclusion body myositis / IBM / Sporadic inclusion body myositis / sIBM", "OMIM:147421": "INCLUSION BODY MYOSITIS", "OMIM:608390": "MYOTONIA, POTASSIUM-AGGRAVATED", "ORPHA:614": "Thomsen and Becker disease / Myotonia congenita", "ORPHA:615": "Familial atrial myxoma/Myxoma, intracardiac", "OMIM:255960": "MYXOMA, INTRACARDIAC", "ORPHA:616": "Medulloblastoma/MEDULLOBLASTOMA", "OMIM:155255": "MEDULLOBLASTOMA; MDB", "ORPHA:617": "Congenital primary megaureter / Congenital primary megalo-ureter", "ORPHA:618": "Familial melanoma", "ORPHA:1412": "Tarsal-carpal coalition syndrome/Tarsal-Carpal coalition syndrome", "OMIM:186570": "TARSAL-CARPAL COALITION SYNDROME; TCC", "ORPHA:62": "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3/Muscular dystrophy, limb-girdle, type 2D / Alpha-sarcoglycan-related LGMD R3 / Alpha-sarcoglycanopathy / Autosomal recessive limb-girdle muscular dystrophy type 2D / LGMD due to alpha-sarcoglycan deficiency / LGMD type 2D / LGMD2D / Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency / Limb-girdle muscular dystrophy type 2D", "OMIM:608099": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3", "ORPHA:621": "Hereditary methemoglobinemia / Autosomal recessive methemoglobinemia / Congenital methemoglobinemia", "ORPHA:622": "Homocystinuria without methylmalonic aciduria / Functional methionine synthase deficiency / Methylcobalamin deficiency", "ORPHA:624": "Familial multiple nevi flammei/Nevi flammei, familial multiple / Familial multiple port-wine stains", "OMIM:163000": "CAPILLARY MALFORMATIONS, CONGENITAL; CMC", "ORPHA:626": "Large congenital melanocytic nevus/Melanocytic nevus syndrome, congenital / Large/giant congenital melanocytic nevus / LGCMN / Large/giant CMN syndrome / Large/giant congenital pigmented nevus", "OMIM:137550": "MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS", "ORPHA:627": "Nance-Horan syndrome/Nance-Horan syndrome", "OMIM:302350": "NANCE-HORAN SYNDROME; NHS", "ORPHA:628": "Diastrophic dysplasia/Diastrophic dysplasia / Diastrophic dwarfism", "OMIM:222600": "DIASTROPHIC DYSPLASIA; DTD", "OMIM:262650": "KOWARSKI SYNDROME", "CCRD:3": "Alport 综合征/Alport syndrome/Alport syndrome", "ORPHA:63": "Alport 综合征/Alport syndrome/Alport syndrome / Alport deafness-nephropathy / Alport hearing loss-nephropathy", "ORPHA:631": "Non-acquired isolated growth hormone deficiency / Congenital IGHD / Congenital isolated GH deficiency / Congenital isolated growth hormone deficiency", "OMIM:307200": "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA; IGHD3", "ORPHA:63259": "Iniencephaly", "ORPHA:63260": "Craniorachischisis", "ORPHA:63273": "Distal myopathy with posterior leg and anterior hand involvement/Myopathy, distal, 4 / Distal ABD-filaminopathy", "OMIM:614065": "MYOPATHY, DISTAL, 4; MPD4", "ORPHA:63275": "Pemphigoid gestationis / Gestational pemphigoid", "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 / Complete growth hormone insensitivity / GH receptor deficiency / Growth hormone receptor deficiency / Laron-type dwarfism / Primary GH insensitivity / Primary GH resistance / Primary growth hormone resistance / Short stature due to growth hormone resistance", "OMIM:262500": "LARON SYNDROME", "ORPHA:634": "Netherton syndrome/Netherton syndrome / Bamboo hair syndrome / Comèl-Netherton syndrome / NS", "OMIM:256500": "NETHERTON SYNDROME; NETH", "ORPHA:63442": "Angel-shaped phalango-epiphyseal dysplasia/Angel-Shaped phalangoepiphyseal dysplasia / ASPED", "OMIM:105835": "ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED", "ORPHA:63446": "Acrocapitofemoral dysplasia/Acrocapitofemoral dysplasia", "OMIM:607778": "ACROCAPITOFEMORAL DYSPLASIA; ACFD", "ORPHA:63455": "Paraneoplastic pemphigus", "ORPHA:635": "Neuroblastoma", "ORPHA:636": "Neurofibromatosis type 1 / Nonmosaic NF1 / Nonmosaic neurofibromatosis type 1 / Von Recklinghausen disease", "ORPHA:637": "Full NF2-related schwannomatosis/Neurofibromatosis, type II / Full neurofibromatosis type 2 / Nonmosaic NF2-related schwannomatosis / Nonmosaic neurofibromatosis type 2", "OMIM:101000": "SCHWANNOMATOSIS, VESTIBULAR; SWNV", "ORPHA:638": "Neurofibromatosis-Noonan syndrome/Neurofibromatosis-Noonan syndrome / NFNS / Neurofibromatosis type 1-Noonan syndrome", "OMIM:601321": "NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS", "ORPHA:63862": "Schisis association", "ORPHA:639": "Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG / Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG / Anti-MAG neuropathy / Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein", "ORPHA:64": "Alström syndrome/Alstrom syndrome", "OMIM:203800": "ALSTROM SYNDROME; ALMS", "ORPHA:640": "Hereditary neuropathy with liability to pressure palsies/Neuropathy, hereditary, with liability to pressure palsies / Current pressure-sensitive neuropathy / HNPP / Heterozygous microdeletion 17p11.2p12 / Potato-grubbing palsy / Tomaculous neuropathy / Tulip-bulb digger's palsy", "OMIM:162500": "NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP", "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 / MMNCB / Multifocal motor neuropathy with conduction block", "ORPHA:642": "Hereditary sensory and autonomic neuropathy type 4/Insensitivity to pain, congenital, with anhidrosis / CIPA / Congenital insensitivity to pain with anhidrosis / HSAN4 / Hereditary sensory and autonomic neuropathy type IV", "OMIM:256800": "INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA", "ORPHA:64280": "Childhood absence epilepsy/Epilepsy, childhood absence, susceptibility to, 1 / Pyknolepsy", "OMIM:600131": "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1", "ORPHA:643": "Giant axonal neuropathy/Giant axonal neuropathy 1, autosomal recessive / GAN", "OMIM:256850": "GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1", "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 / Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome / Neuropathy-ataxia-retinitis pigmentosa syndrome", "OMIM:551500": "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": "NIEMANN-PICK DISEASE, TYPE C1; NPC1", "ORPHA:647": "Nijmegen breakage syndrome/Nijmegen breakage syndrome / AT V1 / Ataxia-telangiectasia, variant 1 / Berlin breakage syndrome / Immunodeficiency-microcephaly-chromosomal instability syndrome / Microcephaly-immunodeficiency-lymphoid malignancy syndrome / NBS / Seemanova syndrome type 2", "OMIM:251260": "NIJMEGEN BREAKAGE SYNDROME; NBS", "ORPHA:64739": "Ovarian hyperstimulation syndrome/Ovarian hyperstimulation syndrome / OHSS", "OMIM:608115": "OVARIAN HYPERSTIMULATION SYNDROME; OHSS", "ORPHA:1005": "Alopecia-contractures-dwarfism-intellectual disability syndrome/Alopecia-Contractures-Dwarfism mental retardation syndrome / ACD-intellectual disability syndrome", "OMIM:203550": "INTELLECTUAL DEVELOPMENTAL SYNDROME WITH ALOPECIA, CONTRACTURES, AND DWARFISM", "ORPHA:64741": "Pulmonary blastoma / Pneumoblastoma", "OMIM:601200": "PLEUROPULMONARY BLASTOMA; PPB", "ORPHA:64745": "Pruritic urticarial papules and plaques of pregnancy/Pruritic urticarial papules and plaques of pregnancy / PUPPP / Polymorphic eruption of pregnancy", "OMIM:178995": "PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP", "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 / CIP / Congenital insensitivity to pain and thermal analgesia / HSAN5 / Hereditary sensory and autonomic neuropathy type V", "OMIM:608654": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5", "ORPHA:64753": "Spinocerebellar ataxia with axonal neuropathy type 2 / AOA2 / Ataxia-oculomotor apraxia type 2 / SCAN 2 / SCAR1", "ORPHA:64754": "Nevus comedonicus syndrome/Nevus comedonicus, somatic", "OMIM:617025": "NEVUS COMEDONICUS; NC", "ORPHA:64755": "Becker nevus syndrome/Becker nevus syndrome / Becker melanosis / Becker naevus syndrome / Pigmentary hairy epidermal nevus / Pigmented hairy epidermal naevus / Pigmented hairy epidermal nevus", "OMIM:604919": "BECKER NEVUS SYNDROME; BNS", "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 SYNDROME 1; NS1", "ORPHA:649": "Norrie disease/Norrie disease / Atrophia bulborum hereditaria / Episkopi blindness / Norrie-Warburg disease", "OMIM:310600": "NORRIE DISEASE; ND", "ORPHA:65": "Leber congenital amaurosis/Leber congenital amaurosis, type I / Amaurosis congenita of Leber", "OMIM:204000": "LEBER CONGENITAL AMAUROSIS 1; LCA1", "ORPHA:650": "LCAT deficiency / Lecithin-cholesterol acyltransferase deficiency", "ORPHA:652": "Multiple endocrine neoplasia type 1/Multiple endocrine neoplasia 1 / MEN1 / Wermer syndrome", "OMIM:131100": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1", "ORPHA:65250": "Perineural cyst / NON RARE IN EUROPE: Perineural cyst / NON RARE IN EUROPE: Tarlov cyst", "OMIM:614687": "ALAR CLEFT, ISOLATED", "ORPHA:65282": "Carvajal syndrome/Cardiomyopathy, dilated, with woolly hair and keratoderma / KWWH type II / Keratoderma with woolly hair type II / Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome / Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome / Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome / Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome", "OMIM:605676": "CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK", "OMIM:601005": "TIMOTHY SYNDROME; TS", "ORPHA:65285": "Lhermitte-Duclos disease / Dysplastic gangliocytoma of the cerebellum / LDD", "ORPHA:65286": "3q29 microdeletion syndrome/Chromosome 3q29 deletion syndrome / 3q subtelomere deletion syndrome / 3qter deletion / Del(3)(q29) / Monosomy 3q29 / Monosomy 3qter", "OMIM:609425": "CHROMOSOME 3q29 DELETION SYNDROME", "OMIM:613161": "BETA-UREIDOPROPIONASE DEFICIENCY; UPB1D", "ORPHA:65288": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome/Pancreatic and cerebellar agenesis", "OMIM:609069": "PANCREATIC AND CEREBELLAR AGENESIS; PACA", "ORPHA:653": "Multiple endocrine neoplasia type 2 / MEN2", "ORPHA:654": "Nephroblastoma / Renal embryonic tumor / Wilms tumor", "ORPHA:655": "Nephronophthisis/Nephronophthisis 1", "OMIM:256100": "NEPHRONOPHTHISIS 1; NPHP1", "ORPHA:65682": "Benign recurrent intrahepatic cholestasis / BRIC / Summerskill-Walshe-Tygstrup syndrome", "ORPHA:65684": "Monomelic amyotrophy/Amyotrophy, monomelic / Benign focal amyotrophy / Hirayama disease / JMADUE / Juvenile muscular atrophy of distal upper extremity / Juvenile muscular atrophy of the distal upper limb", "OMIM:602440": "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; DA4", "OMIM:178110": "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A", "OMIM:132800": "MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE", "OMIM:600251": "FACIAL CLEFTING, OBLIQUE, 1; OBLFC1", "ORPHA:65759": "Carpenter syndrome / ACPS2 / Acrocephalopolysyndactyly type 2", "ORPHA:659": "Mutilating palmoplantar keratoderma with periorificial keratotic plaques / Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques / Olmsted syndrome / Palmoplantar and periorificial keratoderma", "ORPHA:660": "Omphalocele", "ORPHA:661": "Congenital central hypoventilation syndrome/Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease / CCHS / Congenital central alveolar hypoventilation syndrome / Ondine curse / Ondine syndrome", "OMIM:209880": "CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1; CCHS1", "ORPHA:662": "Yellow nail syndrome/Yellow nail syndrome / Lymphedema with yellow nails / YNS", "OMIM:153300": "YELLOW NAIL SYNDROME", "ORPHA:663": "Mitochondrial DNA-related progressive external ophthalmoplegia / Maternally-inherited CPEO / Maternally-inherited chronic progressive external ophthalmoplegia / mtDNA-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 / OCT deficiency / OTC deficiency / Ornithine carbamoyltransferase deficiency", "OMIM:311250": "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 / Brittle bone disease / Glass bone disease / Lobstein disease", "ORPHA:66624": "PANDAS / Pediatric autoimmune disorders associated with Streptococcus infections / Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections", "ORPHA:66625": "Cerebrooculonasal syndrome/Cerebrooculonasal syndrome", "OMIM:605627": "CEREBROOCULONASAL SYNDROME", "ORPHA:66627": "Tenosynovial giant cell tumor / Diffuse-type GCT / Diffuse-type giant cell tumor / Pigmented villonodular synovitis / TGCT / TSGCT", "ORPHA:66628": "Obesity due to congenital leptin deficiency/Leptin deficiency or dysfunction", "OMIM:614962": "LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD", "ORPHA:66629": "Goldberg-Shprintzen megacolon syndrome/Goldberg-Shprintzen syndrome / GOSHS / Megacolon-microcephaly syndrome", "OMIM:609460": "GOLDBERG-SHPRINTZEN SYNDROME; GOSHS", "ORPHA:66630": "Congenital pseudoarthrosis of the clavicle / Congenital pseudarthrosis of the clavicle", "ORPHA:66631": "CEDNIK syndrome/Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome / Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome", "OMIM:609528": "CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME; CEDNIK", "ORPHA:66633": "Sensorineural hearing loss-early graying-essential tremor syndrome / Sensorineural deafness-early graying-essential tremor syndrome", "ORPHA:66634": "Dilated cardiomyopathy with ataxia/3-methylglutaconic aciduria, type V / 3-methylglutaconic aciduria type 5 / DCMA syndrome / MGA5", "OMIM:610198": "3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5", "ORPHA:66637": "Diaphanospondylodysostosis/Diaphanospondylodysostosis", "OMIM:608022": "DIAPHANOSPONDYLODYSOSTOSIS", "ORPHA:66661": "Mast cell sarcoma", "ORPHA:667": "Autosomal recessive malignant osteopetrosis / Infantile malignant osteopetrosis", "ORPHA:668": "Osteosarcoma/Osteosarcoma / Osteogenic sarcoma", "OMIM:259500": "OSTEOGENIC SARCOMA", "ORPHA:67036": "Autosomal dominant optic atrophy and cataract/Optic atrophy 3, autosomal dominant / Autosomal dominant optic atrophy type 3 / OPA3, autosomal dominant", "OMIM:165300": "OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3", "OMIM:151400": "LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL", "ORPHA:67041": "Hyaluronidase deficiency/Mucopolysaccharidosis type IX / MPS9 / MPSIX / Mucopolysaccharidosis type 9", "OMIM:601492": "MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9", "ORPHA:67042": "Late-onset retinal degeneration/Retinal degeneration, late-onset, autosomal dominant / Autosomal dominant late-onset retinal degeneration / LORD", "OMIM:605670": "LATE-ONSET RETINAL DEGENERATION; LORD", "ORPHA:67043": "Amoebic keratitis", "ORPHA:67044": "Thrombocytopenia with congenital dyserythropoietic anemia / Congenital dyserythropoietic anemia with thombocytopenia / X-linked congenital dyserythropoietic anemia with thrombocytopenia / XDAT", "ORPHA:67046": "3-methylglutaconic aciduria type 1/3-methylglutaconic aciduria, type I / 3-methylglutaconyl-CoA hydratase deficiency / 3MG-CoA hydratase deficiency / MGA1", "OMIM:250950": "3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1", "ORPHA:67047": "3-methylglutaconic aciduria type 3/3-methylglutaconic aciduria, type III / Autosomal recessive optic atrophy plus syndrome / Autosomal recessive optic atrophy type 3 / Costeff optic atrophy syndrome / Costeff syndrome / Infantile optic atrophy with chorea and spastic paraplegia / MGA3", "OMIM:258501": "3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3", "ORPHA:67048": "3-methylglutaconic aciduria type 4/3-@methylglutaconic aciduria, type IV / MGA4", "OMIM:250951": "3-METHYLGLUTACONIC ACIDURIA, TYPE IV; MGCA4", "ORPHA:672": "Pallister-Hall syndrome/Pallister-Hall syndrome / Hypothalamic hamartoblastoma syndrome", "OMIM:146510": "PALLISTER-HALL SYNDROME; PHS", "ORPHA:673": "Malaria", "ORPHA:675": "Annular pancreas/Pancreas, annular", "OMIM:167750": "PANCREAS, ANNULAR", "ORPHA:676": "Hereditary chronic pancreatitis/Pancreatitis, hereditary", "OMIM:167800": "PANCREATITIS, HEREDITARY; PCTT", "ORPHA:677": "Pancreatoblastoma", "ORPHA:678": "Papillon-Lefèvre syndrome/Papillon-Lefevre syndrome / Keratosis palmoplantar-periodontopathy syndrome", "OMIM:245000": "PAPILLON-LEFEVRE SYNDROME; PALS", "ORPHA:679": "Malignant atrophic papulosis/Malignant atrophic papulosis / Cutaneo-muco-intestinal syndrome / MAP / Papulosis atrophicans maligna", "OMIM:602248": "MALIGNANT ATROPHIC PAPULOSIS", "ORPHA:681": "Hypokalemic periodic paralysis/Hypokalemic periodic paralysis, type 1 / Westphall disease", "OMIM:170400": "HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1", "ORPHA:682": "Hyperkalemic periodic paralysis/Hyperkalemic periodic paralysis / Adynamia episodica hereditaria / Familial hyperPP / Familial hyperkalemic periodic paralysis / Gamstorp disease / Gamstorp episodic adynamy / HYPP / HyperKPP / HyperPP / Hyperkalemic PP / Primary hyperPP / Primary hyperkalemic periodic paralysis", "OMIM:170500": "HYPERKALEMIC PERIODIC PARALYSIS; HYPP", "ORPHA:683": "Progressive supranuclear palsy / PSP syndrome", "ORPHA:1006": "Alopecia antibody deficiency / Ipp-Gelfand syndrome", "ORPHA:141291": "Cleft lip and alveolus", "ORPHA:684": "Paramyotonia congenita of Von Eulenburg/Paramyotonia congenita", "OMIM:168300": "PARAMYOTONIA CONGENITA; PMC", "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 / Alloimmune neonatal renal disease / FMAIG / Fetomaternal alloimmunization with antenatal glomerulopathies / Neonatal glomerulopathy due to neprilysin alloimmunization / Neonatal membranous glomerulopathy with maternal NEP deficiency / Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency", "ORPHA:69076": "Familial renal glucosuria/Renal glucosuria / Familial renal glycosuria / SGLT2 deficiency", "OMIM:233100": "RENAL GLUCOSURIA; GLYS", "ORPHA:69077": "Rhabdoid tumor / Malignant 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 / Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome", "OMIM:210350": "BIEMOND SYNDROME II", "ORPHA:69085": "Limb-mammary syndrome/Limb-Mammary syndrome / LMS", "OMIM:603543": "LIMB-MAMMARY SYNDROME; LMS", "ORPHA:69087": "Naegeli-Franceschetti-Jadassohn syndrome/Naegeli-Franceschetti-Jadassohn syndrome / NFJ syndrome / Naegeli syndrome", "OMIM:161000": "NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME; NFJS", "ORPHA:69125": "Anonychia with flexural pigmentation/Anonychia with flexural pigmentation", "OMIM:106750": "ANONYCHIA WITH FLEXURAL PIGMENTATION", "ORPHA:69126": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome/Pyogenic sterile arthritis, pyoderma gangrenosum, and acne / PAPA syndrome / FRA / Familial recurrent arthritis", "OMIM:604416": "PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE; PAPA", "ORPHA:69663": "Low phospholipid-associated cholelithiasis/Gallbladder disease 1 / ABCB4-related cholelithiasis / LPAC", "OMIM:600803": "GALLBLADDER DISEASE 1; GBD1", "OMIM:276710": "TYROSINEMIA, TYPE III; TYRSN3", "ORPHA:69735": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome / Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome", "ORPHA:69736": "Bilateral acute depigmentation of the iris / BADI", "ORPHA:1414": "Cholestasis-lymphedema syndrome/Cholestasis-Lymphedema syndrome / Aagenaes syndrome", "OMIM:214900": "CHOLESTASIS-LYMPHEDEMA SYNDROME", "OMIM:601536": "ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS", "ORPHA:69744": "Circumscribed palmoplantar hypokeratosis / Circumscribed acral 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 / PMPS", "OMIM:557000": "PEARSON MARROW-PANCREAS SYNDROME", "ORPHA:7": "3C syndrome / Craniocerebellocardiac dysplasia / Ritscher-Schinzel 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 / Diffuse familial brain sclerosis / PMD / Pelizaeus-Merzbacher brain sclerosis / Sudanophilic leukodystrophy, Paelizeus-Merzbacher type", "OMIM:312080": "PELIZAEUS-MERZBACHER DISEASE; PMD", "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) / COX deficiency, French-Canadian type / Cytochrome C oxidase deficiency, French-Canadian type / Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type / Leigh syndrome, French-Canadian type / Leigh syndrome, Saguenay-Lac-Saint-Jean type / SLSJ-COX deficiency", "OMIM:220111": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5", "ORPHA:70474": "Leigh syndrome with cardiomyopathy / Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency / Cardiomyopathy with myopathy due to COX deficiency / Leigh disease with myopathy", "ORPHA:70475": "Radiation proctitis", "ORPHA:70476": "Vernal keratoconjunctivitis / Spring catarrh", "ORPHA:70482": "Carcinoma of esophagus / Esophageal carcinoma", "ORPHA:705": "Pendred syndrome/Pendred syndrome / Goiter-deafness syndrome / Goiter-hearing loss syndrome", "OMIM:274600": "PENDRED SYNDROME; PDS", "ORPHA:70567": "Cholangiocarcinoma / Bile duct cancer / CCA", "ORPHA:1416": "Familial calcium pyrophosphate deposition/Chondrocalcinosis 2 / Calcium pyrophosphate dihydrate crystal deposition disease / Familial CC / Familial CPPD / Familial articular chondrocalcinosis / Hereditary CC / Hereditary articular chondrocalcinosis / Hereditary calcium pyrophosphate deposition", "OMIM:118600": "CHONDROCALCINOSIS 2; CCAL2", "OMIM:182280": "SMALL CELL CANCER OF THE LUNG", "ORPHA:70578": "Adult acute respiratory distress syndrome / Adult ARDS", "ORPHA:70587": "Infant acute respiratory distress syndrome/Respiratory distress syndrome in premature infants / Hyaline membrane disease / Infant ARDS / Infant respiratory distress syndrome / Neonatal respiratory distress syndrome", "OMIM:267450": "RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS", "ORPHA:70589": "Bronchopulmonary dysplasia / BPD", "ORPHA:70591": "Chronic thromboembolic pulmonary hypertension / CTEPH", "ORPHA:70592": "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency/Immunodeficiency 67 / Transient predisposition to invasive pyogenic bacterial infection", "OMIM:607676": "IMMUNODEFICIENCY 67; IMD67", "ORPHA:70594": "Dopa-responsive dystonia due to sepiapterin reductase deficiency/Dystonia, dopa-responsive, due to sepiapterin reductase deficiency / Autosomal recessive sepiapterin reductase-deficient DRD / DRD due to SRD / SPR deficiency / Sepiapterin reductase deficiency", "OMIM:612716": "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 / SANDO", "OMIM:607459": "SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO", "ORPHA:708": "Peters anomaly/Anterior segment dysgenesis 5, multiple subtypes / Peters congenital glaucoma", "OMIM:604229": "ANTERIOR SEGMENT DYSGENESIS 5; ASGD5", "ORPHA:709": "Peters plus syndrome/Peters-plus syndrome / Krause-Kivlin syndrome / Krause-van Schooneveld-Kivlin syndrome / Peters anomaly with short limb dwarfism", "OMIM:261540": "PETERS-PLUS SYNDROME; PTRPLS", "ORPHA:71": "Chylomicron retention disease/Chylomicron retention disease / Anderson disease / CMRD / CRD", "OMIM:246700": "CHYLOMICRON RETENTION DISEASE; CMRD", "ORPHA:710": "Pfeiffer syndrome/Pfeiffer syndrome / ACS5 / Acrocephalosyndactyly type 5", "OMIM:101600": "PFEIFFER SYNDROME", "OMIM:613470": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4; CNSHA4", "ORPHA:1422": "Chondrodysplasia-disorder of sex development syndrome/Nivelon-Nivelon-Mabille syndrome / Chondrodysplasia-difference of sex development syndrome / Chondrodysplasia-pseudohermaphroditism syndrome", "OMIM:600092": "NIVELON-NIVELON-MABILLE SYNDROME; NNMS", "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 / Devic disease / NMOSD", "ORPHA:71212": "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency/Hyperinsulinemic hypoglycemia, familial, 4 / Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency / Hyperinsulinism due to SCHAD deficiency / Hyperinsulinism due to glutamodehydrogenase deficiency", "OMIM:609975": "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4", "ORPHA:71213": "Retinal capillary malformation / Retinal cavernous hemangioma", "ORPHA:71267": "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome / Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome", "OMIM:220600": "SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE; SHFM1D", "ORPHA:71272": "Sandifer syndrome", "ORPHA:1423": "Lethal recessive chondrodysplasia / Maroteaux-Stanescu-Cousin syndrome", "ORPHA:71276": "Silent sinus syndrome / CMA grade 3 / Chronic maxillary atelectasis grade III / Imploding antrum syndrome", "ORPHA:71277": "Classic glucose transporter type 1 deficiency syndrome/GLUT1 deficiency syndrome 1, infantile onset, severe / Classic GLUT1 deficiency syndrome / Classic GLUT1-DS / De Vivo disease / Encephalopathy due to GLUT1 deficiency", "OMIM:606777": "GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1", "OMIM:610015": "GLUTAMINE DEFICIENCY, CONGENITAL; GLND", "ORPHA:71289": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome/Radioulnar synostosis with amegakaryocytic thrombocytopenia / ATRUS syndrome", "OMIM:605432": "RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1; RUSAT1", "OMIM:616216": "THROMBOCYTOPENIA 5; THC5", "ORPHA:713": "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency/Phosphoglycerate kinase 1 deficiency / GSD due to phosphoglycerate kinase 1 deficiency / Glycogenosis due to phosphoglycerate kinase 1 deficiency", "OMIM:300653": "PHOSPHOGLYCERATE KINASE 1 DEFICIENCY", "OMIM:222800": "ERYTHROCYTOSIS, FAMILIAL, 8; ECYT8", "ORPHA:1008": "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome / Shokeir syndrome", "ORPHA:1425": "Desbuquois syndrome/Desbuquois dysplasia 1 / DBQD", "OMIM:251450": "DESBUQUOIS DYSPLASIA 1; DBQD1", "ORPHA:71493": "Familial thrombocytosis / Familial thrombocythemia / Hereditary thrombocythemia", "OMIM:300559": "GLYCOGEN STORAGE DISEASE IXd; GSD9D", "ORPHA:71517": "Rapid-onset dystonia-parkinsonism/Dystonia 12 / DYT12", "OMIM:128235": "DYSTONIA 12; DYT12", "ORPHA:71518": "Benign paroxysmal torticollis of infancy", "ORPHA:71519": "Psychogenic movement disorders / Psychogenic dystonia", "ORPHA:71526": "Obesity due to pro-opiomelanocortin deficiency/Obesity, early-onset, with adrenal insufficiency and red hair / POMC deficiency", "OMIM:609734": "OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR; OBAIRH", "ORPHA:71528": "Obesity due to prohormone convertase I deficiency/Proprotein convertase 1/3 deficiency / PCI deficiency", "OMIM:600955": "PROPROTEIN CONVERTASE 1/3 DEFICIENCY", "ORPHA:71529": "Obesity due to melanocortin 4 receptor deficiency / MC4R deficiency", "CCRD:90": "苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria", "ORPHA:716": "苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria / PAH deficiency / Phenylalanine hydroxylase deficiency", "OMIM:261600": "PHENYLKETONURIA; PKU", "ORPHA:1426": "Greenberg dysplasia/Greenberg skeletal dysplasia / HEM dysplasia / Hydrops-ectopic calcification-motheaten syndrome / Skeletal dysplasia, Greenberg type", "OMIM:215140": "GREENBERG DYSPLASIA; GRBGD", "ORPHA:718": "Isolated Pierre Robin syndrome/Pierre Robin syndrome / Isolated Pierre Robin sequence / PRS", "OMIM:261800": "PIERRE ROBIN SYNDROME; PRBNS", "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": "ANGELMAN SYNDROME; AS", "ORPHA:720": "Pili bifurcati", "ORPHA:721": "Gray platelet syndrome/Gray platelet syndrome / Alpha storage pool deficiency / GPS / Platelet alpha-granule deficiency", "OMIM:139090": "GRAY PLATELET SYNDROME; GPS", "ORPHA:722": "Hypoplasminogenemia/Plasminogen deficiency, type I / Plasminogen deficiency type 1", "OMIM:217090": "PLASMINOGEN DEFICIENCY, TYPE I", "ORPHA:1427": "Otospondylomegaepiphyseal dysplasia/Otospondylomegaepiphyseal dysplasia / Autosomal recessive otospondylomegaepiphyseal dysplasia / OSMED", "OMIM:215150": "OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB", "ORPHA:724": "Idiopathic acute eosinophilic pneumonia / IAEP", "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) / Alpers progressive sclerosing poliodystrophy / Alpers syndrome / Progressive neuronal degeneration of childhood with liver disease", "OMIM:203700": "MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A", "ORPHA:727": "Microscopic polyangiitis / MPA / Micropolyangiitis / Microscopic polyarteritis", "ORPHA:728": "Relapsing polychondritis / Polychondropathia", "ORPHA:729": "Polycythemia vera/Polycythemia vera / Acquired primary erythrocytosis / Osler-Vaquez disease / PV / Polycythemia rubra vera", "OMIM:263300": "POLYCYTHEMIA VERA; PV", "ORPHA:73": "Gorham-Stout disease/Cystic angiomatosis of bone, diffuse / Gorham disease / Gorham syndrome / Idiopathic massive osteolysis / Progressive massive osteolysis / Vanishing bone disease", "OMIM:123880": "CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE", "ORPHA:731": "Autosomal recessive polycystic kidney disease / AR-PKD", "OMIM:168900": "PATELLA, CHONDROMALACIA OF", "ORPHA:732": "Polymyositis", "OMIM:309580": "INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1", "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 / Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome / Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome", "OMIM:611773": "ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC", "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; EOE1", "ORPHA:1429": "Benign hereditary chorea/Chorea, benign hereditary / BHC / Benign familial chorea", "OMIM:118700": "CHOREA, BENIGN HEREDITARY; BHC", "ORPHA:73256": "Central neurocytoma", "ORPHA:73267": "Non-24-hour sleep-wake syndrome / Hypernychthemeral syndrome", "ORPHA:73272": "Growth delay due to insulin-like growth factor type 1 deficiency/Insulin-Like growth factor I deficiency / Growth delay-deafness-intellectual disability syndrome / Growth delay-hearing loss-intellectual disability syndrome / IGF-1 deficiency / Primary insulin-like growth factor deficiency", "OMIM:608747": "INSULIN-LIKE GROWTH FACTOR I DEFICIENCY; IGF1D", "ORPHA:73273": "Growth delay due to insulin-like growth factor I resistance/Insulin-Like growth factor I, resistance to / Resistance to IGF-1", "OMIM:270450": "INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES", "ORPHA:733": "Familial adenomatous polyposis/Adenomatous polyposis coli / Colorectal adenomatous polyposis / FAP / Familial polyposis coli", "OMIM:175100": "FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1", "OMIM:185050": "STORAGE POOL PLATELET DISEASE", "ORPHA:143": "Parathyroid carcinoma/Parathyroid carcinoma", "OMIM:608266": "PARATHYROID CARCINOMA", "ORPHA:735": "Porokeratosis of Mibelli", "ORPHA:737": "Porokeratosis plantaris palmaris et disseminata/Porokeratosis plantaris, palmaris, et disseminata / Palmar, plantar and disseminated porokeratosis", "OMIM:175850": "POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE; POROK2", "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 / Prader-Labhart-Willi syndrome", "OMIM:176270": "PRADER-WILLI SYNDROME; PWS", "ORPHA:740": "Hutchinson-Gilford progeria syndrome/Hutchinson-Gilford progeria syndrome / HGPS / Progeria", "OMIM:176670": "HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS", "OMIM:157700": "MITRAL VALVE PROLAPSE 1; MVP1", "ORPHA:742": "Prolidase deficiency/Prolidase deficiency / Hyperimidodipeptiduria", "OMIM:170100": "PROLIDASE DEFICIENCY", "ORPHA:743": "Severe hereditary thrombophilia due to congenital protein S deficiency / Autosomal recessive thrombophilia due to congenital protein S deficiency", "ORPHA:744": "Proteus syndrome/Proteus syndrome, somatic / Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome", "OMIM:176920": "PROTEUS SYNDROME", "ORPHA:745": "Severe hereditary thrombophilia due to congenital protein C deficiency / Autosomal recessive thrombophilia due to PC deficiency / Autosomal recessive thrombophilia due to congenital protein C deficiency", "ORPHA:746": "Mitochondrial trifunctional protein deficiency/Mitochondrial trifunctional protein deficiency / TFP deficiency / TFPD", "OMIM:609015": "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1; MTPD1", "ORPHA:747": "Autoimmune pulmonary alveolar proteinosis/Pulmonary alveolar proteinosis, acquired / Autoimmune PAP / aPAP", "OMIM:610910": "PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED", "OMIM:612423": "PREKALLIKREIN DEFICIENCY; PKKD", "ORPHA:750": "Pseudoachondroplasia/Pseudoachondroplasia / Pseudoachondroplastic dysplasia / Pseudoachondroplastic spondyloepiphyseal dysplasia", "OMIM:177170": "PSEUDOACHONDROPLASIA; PSACH", "ORPHA:752": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency/Pseudohermaphroditism, male, with gynecomastia / 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency / 17-ketoreductase deficiency / 17-ketosteroidreductase deficiency", "OMIM:264300": "17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY", "ORPHA:75233": "Wolman disease", "ORPHA:1433": "Choroidal atrophy-alopecia syndrome / Moloney syndrome / Regional choroidal atrophy and alopecia", "ORPHA:75234": "Cholesteryl ester storage disease / Cholesterol ester storage disease", "ORPHA:753": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency/Pseudovaginal perineoscrotal hypospadias / 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency / 46,XY DSD due to 5-alpha-reductase 2 deficiency / Steroid 5-alpha-reductase 2 deficiency", "OMIM:264600": "PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH", "ORPHA:75325": "Osteosclerosis-ichthyosis-premature ovarian failure syndrome/Osteosclerosis - ichthyosis - premature ovarian failure / Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome", "OMIM:609993": "OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE", "OMIM:180000": "RETINAL ARTERIES, TORTUOSITY OF; RATOR", "OMIM:136550": "MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1", "ORPHA:75373": "Progressive bifocal chorioretinal atrophy/Chorioretinal atrophy, progressive bifocal / CRAPB / PBCRA", "OMIM:600790": "CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL; PBCRA", "ORPHA:75374": "Bradyopsia/BRADYOPSIA / PERRS / Prolonged electroretinal response suppression", "OMIM:608415": "PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 1; PERRS1", "ORPHA:75376": "Familial drusen/Doyne honeycomb retinal dystrophy / DHRD / Dominant drusen / Dominant radial drusen / Malattia leventinese", "OMIM:126600": "DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD", "ORPHA:75377": "Central areolar choroidal dystrophy/Choroidal dystrophy, central areolar 1 / Areolar atrophy of the macula / CACD / Central areolar choroidal sclerosis", "OMIM:215500": "CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1", "ORPHA:1435": "Xq21 microdeletion syndrome/Xq21 deletion syndrome / Ayazi syndrome / Del(X)(q21) / Monosomy Xq21", "OMIM:303110": "CHROMOSOME Xq21 DELETION SYNDROME", "ORPHA:75378": "Oligocone trichromacy / Oligocone syndrome", "OMIM:153880": "MACULAR DYSTROPHY, DOMINANT CYSTOID; DCMD", "ORPHA:75382": "Oguchi disease/Oguchi disease 1 / Congenital stationary night blindness, Oguchi type / Oguchi syndrome", "OMIM:258100": "OGUCHI DISEASE 1", "ORPHA:75389": "Brain malformation-congenital heart disease-postaxial polydactyly syndrome / Goossens-Devriendt syndrome", "OMIM:609981": "IMMUNODEFICIENCY 54; IMD54", "ORPHA:75392": "Periodontal Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, periodontal type, 1 / EDS VIII / Ehlers-Danlos syndrome type 8 / Ehlers-Danlos syndrome, periodontitis type / Periodontal EDS / pEDS", "OMIM:130080": "EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1", "ORPHA:754": "Androgen insensitivity syndrome / AIS / Androgen resistance syndrome / Goldberg-Maxwell syndrome / Morris syndrome / Testicular feminization syndrome", "ORPHA:75496": "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome / B4GALT7-related spondylodysplastic EDS / EDS progeroid type 1 / EDS with short stature and limb anomalies / spEDS-B4GALT7", "ORPHA:75497": "X-linked Ehlers-Danlos syndrome / EDS V / Ehlers-Danlos syndrome type 5 / X-linked EDS", "ORPHA:755": "Leydig cell hypoplasia / 46,XY DSD due to LH resistance or LHB deficiency / 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency / 46,XY disorder of sex development due to LH resistance or LHB deficiency / 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", "ORPHA:1436": "X-linked skeletal dysplasia-intellectual disability syndrome/Mental retardation, skeletal dysplasia, and abducens palsy / Christian syndrome", "OMIM:309620": "CHRISTIAN SYNDROME; CHRS", "ORPHA:75563": "X-linked sideroblastic anemia/Anemia, sideroblastic, X-linked / XLSA", "OMIM:300751": "ANEMIA, SIDEROBLASTIC, 1; SIDBA1", "ORPHA:75564": "Acquired idiopathic sideroblastic anemia / AISA / Primary acquired sideroblastic anemia / RARS / Refractory anemia with ringed sideroblasts", "ORPHA:75567": "Primary progressive freezing gait / PPFG", "ORPHA:757": "Pseudohypoaldosteronism type 2 / Chloride shunt syndrome / Familial hyperkalemic hypertension / Gordon hyperkalemia-hypertension syndrome / Hyperkalemia-hypertension syndrome, Gordon type / Hypertensive hyperkalemia / Mineralocorticoid resistant hyperkalemia / PHA2 / PHAII / Spitzer-Weinstein syndrome", "ORPHA:758": "Pseudoxanthoma elasticum/Pseudoxanthoma elasticum / Gronblad-Strandberg-Touraine syndrome / PXE", "OMIM:264800": "PSEUDOXANTHOMA ELASTICUM; PXE", "ORPHA:75840": "Congenital muscular dystrophy, Ullrich type/Ullrich congenital muscular dystrophy 1 / UCMD / Ullrich scleroatonic muscular dystrophy", "OMIM:254090": "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A", "ORPHA:100924": "Porphyria due to ALA dehydratase deficiency/Porphyria, acute hepatic / ALAD porphyria / Porphyria due to ALAD deficiency / Porphyria due to delta-aminolevulinate dehydratase deficiency / Porphyria of Doss", "OMIM:612740": "PORPHYRIA, ACUTE HEPATIC", "ORPHA:1437": "Ring chromosome 1 syndrome / Ring 1 / r(1) syndrome", "ORPHA:75857": "6q terminal deletion syndrome", "ORPHA:75858": "MORM syndrome/Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome / Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome", "OMIM:610156": "IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS", "ORPHA:759": "Central precocious puberty / NON RARE IN EUROPE: Central precocious puberty / NON RARE IN EUROPE: CPP / NON RARE IN EUROPE: Gonadotropin-dependant precocious puberty", "ORPHA:760": "Purine nucleoside phosphorylase deficiency/Immunodeficiency due to purine nucleoside phosphorylase deficiency / PNP deficiency / PNPase deficiency", "OMIM:613179": "PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY", "ORPHA:761": "Immunoglobulin A vasculitis / Anaphylactoid purpura / Henoch-Schönlein purpura / IgA vasculitis / Purpura rheumatica / Rheumatoid purpura", "ORPHA:763": "Pycnodysostosis/Pycnodysostosis / Pyknodysostosis", "OMIM:265800": "PYCNODYSOSTOSIS", "ORPHA:764": "Pyomyositis / Myositis purulenta tropica / Myositis tropicans / PM / Suppurative myositis / Tropical pyomyositis", "ORPHA:765": "Pyruvate dehydrogenase deficiency / PDH / PDHC / Pyruvate dehydrogenase complex deficiency", "ORPHA:766": "Hemolytic anemia due to red cell pyruvate kinase deficiency/Pyruvate kinase deficiency of red cells / Pyruvate kinase deficiency of erythrocytes", "OMIM:266200": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 2; CNSHA2", "ORPHA:1438": "Ring chromosome 10 syndrome / Ring 10", "ORPHA:767": "Polyarteritis nodosa / Küssmaul-Maier disease / PAN / Periarteritis 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": "PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES", "ORPHA:770": "Rabies", "ORPHA:772": "Infantile Refsum disease / IRD / Mild PBD-ZSD / Mild peroxisome biogenesis disorder-Zellweger spectrum disorder", "OMIM:614103": "LIPEDEMA", "ORPHA:77258": "Trichorhinophalangeal syndrome type 1 and 3", "ORPHA:77259": "Gaucher disease type 1/Gaucher disease, type I / Non-cerebral juvenile Gaucher disease", "OMIM:230800": "GAUCHER DISEASE, TYPE I; GD1", "ORPHA:77260": "Gaucher disease type 2/Gaucher disease, type II / Acute neuronopathic Gaucher disease / Infantile cerebral Gaucher disease", "OMIM:230900": "GAUCHER DISEASE, TYPE II; GD2", "ORPHA:1439": "Ring chromosome 12 syndrome / Ring 12", "ORPHA:77261": "Gaucher disease type 3/Gaucher disease, type III / Cerebral juvenile and adult form of Gaucher disease / Chronic neuronopathic Gaucher disease / Gaucher disease, subacute neuronopathic type", "OMIM:231000": "GAUCHER DISEASE, TYPE III; GD3", "CCRD:82.1": "尼曼匹克病A型/Niemann-Pick disease type A; NPD-A/Niemann-Pick disease, type A", "OMIM:257200": "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 / Chronic visceral ASMD", "OMIM:607616": "NIEMANN-PICK DISEASE, TYPE B", "ORPHA:77296": "Morgagni-Stewart-Morel syndrome / Hyperostosis frontalis interna", "ORPHA:77297": "Majeed syndrome/Majeed syndrome / Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome", "OMIM:609628": "MAJEED SYNDROME; MJDS", "ORPHA:77298": "Anophthalmia/microphthalmia-esophageal atresia syndrome/Microphthalmia, syndromic 3 / MCOPS3 / Syndromic microphthalmia type 3", "OMIM:206900": "MICROPHTHALMIA, SYNDROMIC 3; MCOPS3", "ORPHA:77299": "Microphthalmia-brain atrophy syndrome / MCOPS10 / MOBA syndrome / Syndromic microphthalmia type 10", "ORPHA:773": "Refsum disease/Refsum disease / Adult Refsum disease / Classic Refsum disease / HMSN 4 / HMSN IV / Hereditary motor and sensory neuropathy type 4 / Hereditary motor and sensory neuropathy type IV / Heredopathia atactica polyneuritiformis / Phytanic-CoA hydroxylase deficiency", "OMIM:266500": "REFSUM DISEASE, CLASSIC", "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 1; LYNCH1", "ORPHA:77301": "Monosomy 9q22.3 / Monosomy 9q22.3 syndrome / Microdeletion 9q22.3", "ORPHA:774": "Hereditary hemorrhagic telangiectasia/Telangiectasia, hereditary hemorrhagic, type 1 / HHT / Rendu-Osler disease / Rendu-Osler-Weber disease", "OMIM:187300": "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1", "ORPHA:776": "Lujan-Fryns syndrome/Lujan-Fryns syndrome / X-linked intellectual disability with marfanoid habitus", "OMIM:309520": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE; MRXSLF", "ORPHA:778": "Rett syndrome/Rett syndrome", "OMIM:312750": "RETT SYNDROME; RTT", "ORPHA:779": "Reynolds syndrome/Reynolds syndrome / Primary biliary cirrhosis and systemic scleroderma", "OMIM:613471": "REYNOLDS SYNDROME", "OMIM:616606": "RING CHROMOSOME 14 SYNDROME", "ORPHA:782": "Axenfeld-Rieger syndrome/Axenfeld-Rieger syndrome, type 1 / Axenfeld syndrome", "OMIM:180500": "AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1", "ORPHA:783": "Rubinstein-Taybi syndrome / Broad thumb-hallux syndrome / Broad thumbs-halluces syndrome", "ORPHA:785": "Estrogen resistance syndrome/Estrogen resistance", "OMIM:615363": "ESTROGEN RESISTANCE; ESTRR", "ORPHA:786": "Generalized glucocorticoid resistance syndrome/Glucocorticoid resistance", "OMIM:615962": "GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR", "ORPHA:79": "Congenital alpha2-antiplasmin deficiency/Plasmin inhibitor deficiency", "OMIM:262850": "ALPHA-2-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": "RETINOBLASTOMA; RB1", "ORPHA:79076": "Juvenile polyposis of infancy / Infantile juvenile polyposis syndrome", "ORPHA:79083": "PPARG-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 3 / FPLD3 / Familial partial lipodystrophy type 3 / PPARG-related FPLD", "OMIM:604367": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3", "ORPHA:79084": "Familial partial lipodystrophy, Köbberling type/Lipodystrophy, familial partial, type 1 / FPLD1 / Familial partial lipodystrophy type 1", "OMIM:608600": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1", "ORPHA:79085": "AKT2-related familial partial lipodystrophy / AKT2-related FPLD", "ORPHA:79086": "Acquired generalized lipodystrophy / Acquired lipoatrophic diabetes / Lawrence syndrome / Lawrence-Seip syndrome", "ORPHA:79087": "Acquired partial lipodystrophy/Lipodystrophy, partial, acquired, susceptibility to / Barraquer-Simons syndrome / Progressive cephalothoracic lipodystrophy", "OMIM:608709": "LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD", "ORPHA:79094": "Grange syndrome/Grange syndrome / Grange occlusive arterial syndrome / Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome", "OMIM:602531": "GRANGE SYNDROME; GRNG", "ORPHA:79095": "Congenital bile acid synthesis defect type 4/Bile acid synthesis defect, congenital, 4 / 2-methylacyl-CoA racemase deficiency / AMACR deficiency / Alpha-methyl-acyl-CoA racemase deficiency / BASD4 / Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome", "OMIM:214950": "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4", "ORPHA:79096": "Pyridoxal phosphate-responsive seizures/Pyridoxamine 5-prime-phosphate oxidase deficiency / PNPO deficiency / PNPO-related neonatal epileptic encephalopathy / Pyridoxal phosphate-dependent seizures / Pyridoxamine 5'-oxidase deficiency / Pyridoxamine 5'-phosphate oxidase deficiency", "OMIM:610090": "PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD", "ORPHA:79099": "Interstitial granulomatous dermatitis with arthritis / Ackerman dermatitis syndrome / Ackerman syndrome / IGDA", "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": "RETINITIS PIGMENTOSA; RP", "ORPHA:79100": "Atrophoderma vermiculata/Atrophoderma vermiculata / Folliculitis ulerythematosa reticulate", "OMIM:209700": "ATROPHODERMA VERMICULATA; AVA", "ORPHA:79101": "Hyperprolinemia type 2/Hyperprolinemia, type II / Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency", "OMIM:239510": "HYPERPROLINEMIA, TYPE II; HYRPRO2", "ORPHA:79102": "Thyrotoxic periodic paralysis / Thyrotoxic hypokalemic periodic paralysis", "ORPHA:79106": "Eiken syndrome/Eiken syndrome", "OMIM:600002": "EIKEN SYNDROME; EKNS", "ORPHA:79107": "Developmental malformations-deafness-dystonia syndrome/Dystonia, juvenile-onset / Developmental malformations-hearing loss-dystonia syndrome", "OMIM:607371": "DYSTONIA-DEAFNESS SYNDROME 1; DDS1", "ORPHA:79113": "Mandibulofacial dysostosis-microcephaly syndrome/Mandibulofacial dysostosis, Guion-Almeida type / MFDM syndrome", "OMIM:610536": "MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA", "OMIM:610199": "DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH", "ORPHA:79124": "Hepatic veno-occlusive disease-immunodeficiency syndrome/Hepatic venoocclusive disease with immunodeficiency / VODI syndrome", "OMIM:235550": "HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI", "ORPHA:79128": "Lymphoid interstitial pneumonia/Lymphoid interstitial pneumonia / Lymphocytic interstitial pneumonia", "OMIM:247610": "LYMPHOID INTERSTITIAL PNEUMONIA; LIP", "ORPHA:79129": "Trichodysplasia-amelogenesis imperfecta syndrome", "ORPHA:79133": "Focal facial dermal dysplasia type I/Focal facial dermal dysplasia 1, Brauer type / Bitemporal aplasia cutis congenita / Brauer syndrome / FFDD type I / FFDD1 / Focal facial dermal dysplasia type 1", "OMIM:136500": "FOCAL FACIAL DERMAL DYSPLASIA 1, BRAUER TYPE; FFDD1", "ORPHA:79134": "DEND syndrome / Developmental delay-epilepsy-neonatal diabetes syndrome", "ORPHA:79135": "Episodic ataxia type 3/Episodic ataxia, type 3 / Episodic ataxia-vertigo-tinnitus-myokymia syndrome", "OMIM:606554": "EPISODIC ATAXIA, TYPE 3; EA3", "ORPHA:79136": "Episodic ataxia type 4/Episodic ataxia, type 4 / PATX / Periodic vestibulocerebellar ataxia", "OMIM:606552": "EPISODIC ATAXIA, TYPE 4; EA4", "ORPHA:79137": "Generalized epilepsy-paroxysmal dyskinesia syndrome/Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy / GEPD", "OMIM:609446": "PAROXYSMAL NONKINESIGENIC DYSKINESIA 3 WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3", "ORPHA:79140": "Cutaneous neuroendocrine carcinoma / MCC / Merkel cell carcinoma", "ORPHA:79141": "Hereditary painful callosities/Callosities, hereditary painful / Keratosis palmoplantaris nummularis / PPK nummularis / Plamoplantar hyperkeratosis nummularis / Plamoplantar keratoderma nummularis", "OMIM:114140": "CALLOSITIES, HEREDITARY PAINFUL", "ORPHA:79144": "Isolated congenital onychodysplasia/Nail disorder, nonsyndromic congenital, 7 / COIF / COIF syndrome / Congenital onychodysplasia of the index fingers / Iso-Kikuchi syndrome", "OMIM:605779": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7; NDNC7", "ORPHA:79145": "Dowling-Degos disease/Dowling-Degos disease / Reticular pigment anomaly of flexures", "OMIM:179850": "DOWLING-DEGOS DISEASE 1; DDD1", "OMIM:614233": "HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1; FPH1", "ORPHA:79147": "Familial reactive perforating collagenosis/Collagenosis, familial reactive perforating", "OMIM:216700": "COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; RPC", "ORPHA:79148": "Elastosis perforans serpiginosa/Elastosis perforans serpiginosa", "OMIM:130100": "ELASTOSIS PERFORANS SERPIGINOSA; EPS", "ORPHA:79149": "Dermochondrocorneal dystrophy/Dermochondrocorneal dystrophy / François syndrome", "OMIM:221800": "DERMOCHONDROCORNEAL DYSTROPHY", "OMIM:614323": "NEVOID HYPERMELANOSIS, LINEAR AND WHORLED; LWNH", "ORPHA:79151": "Acrokeratosis verruciformis of Hopf/Acrokeratosis verruciformis / AKV of Hopf", "OMIM:101900": "ACROKERATOSIS VERRUCIFORMIS; AKV", "ORPHA:79152": "Disseminated superficial actinic porokeratosis", "ORPHA:79153": "Idiopathic trachyonychia/Nail disorder, nonsyndromic congenital, 1", "OMIM:161050": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1; NDNC1", "OMIM:204750": "ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA; AAKAD", "ORPHA:100973": "FRAXE intellectual disability/Mental retardation, X-linked, associated with fragile site fraxe / Intellectual disability associated with fragile site FRAXE", "OMIM:309548": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109; XLID109", "ORPHA:1446": "Ring chromosome 22 syndrome / Ring 22 / r(22) syndrome", "ORPHA:79155": "Hydroxykynureninuria/Hydroxykynureninuria / Kynureninase deficiency / Xanthurenic aciduria", "OMIM:236800": "HYDROXYKYNURENINURIA", "ORPHA:79156": "Seizures-intellectual disability due to hydroxylysinuria syndrome/Hydroxylysinuria", "OMIM:236900": "HYDROXYLYSINURIA", "OMIM:610006": "2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY", "ORPHA:79159": "Isobutyryl-CoA dehydrogenase deficiency/Isobutyryl-CoA dehydrogenase deficiency / Isobutyric aciduria", "OMIM:611283": "ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY; IBDD", "ORPHA:79168": "Disorder of bile acid synthesis", "ORPHA:1447": "Ring chromosome 4 syndrome / Ring 4 / Syndrome r(4) / r(4) syndrome", "ORPHA:1448": "Ring chromosome 6 syndrome / Ring 6", "ORPHA:1449": "Ring chromosome 7 syndrome / Ring 7", "ORPHA:792": "X-linked retinoschisis/Retinoschisis 1, X-linked, juvenile / X-linked juvenile retinoschisis / XLRS", "OMIM:312700": "RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1", "ORPHA:145": "Hereditary breast and ovarian cancer syndrome / Hereditary breast and/or ovarian cancer syndrome", "CCRD:73": "黏多糖贮积症/Mucopolysaccharidoses; MPS", "ORPHA:79230": "Hemochromatosis type 2/Hemochromatosis, type 2A / HJV or HAMP-related hemochromatosis / Juvenile hemochromatosis", "OMIM:602390": "HEMOCHROMATOSIS, TYPE 2A; HFE2A", "ORPHA:79233": "Hypoxanthine guanine phosphoribosyltransferase partial deficiency/Gout, hprt-related / HPRT deficiency, grade I / HPRT partial deficiency / HPRT-related gout / HPRT-related hyperuricemia / HPRT1 partial deficiency / Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency / Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I / Kelley-Seegmiller syndrome", "OMIM:300323": "HYPERURICEMIA, HPRT-RELATED; HRH", "ORPHA:1450": "Ring chromosome 8 syndrome / Ring 8 / r(8) syndrome", "ORPHA:79234": "Crigler-Najjar syndrome type 1/Crigler-Najjar syndrome, type I / Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 / Bilirubin-UGT deficiency type 1", "OMIM:218800": "CRIGLER-NAJJAR SYNDROME, TYPE I", "ORPHA:79235": "Crigler-Najjar syndrome type 2/Crigler-najjar syndrome, type II / Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 / Bilirubin-UGT deficiency type 2", "OMIM:606785": "CRIGLER-NAJJAR SYNDROME, TYPE II", "ORPHA:79237": "Galactokinase deficiency/Galactokinase deficiency / GALK deficiency / GALK-D / Galactokinase deficiency galactosemia / Galactosemia type 2", "OMIM:230200": "GALACTOSEMIA II; GALAC2", "ORPHA:79238": "Galactose epimerase deficiency/Galactose epimerase deficiency / Epimerase deficiency galactosemia / GALE deficiency / GALE-D / Galactosemia type 3 / UDP-galactose-4-epimerase deficiency / Uridine diphosphate galactose-4-epimerase deficiency", "OMIM:230350": "GALACTOSEMIA III; GALAC3", "ORPHA:79239": "Classic galactosemia/GALACTOSEMIA / GALT deficiency / Galactose-1-phosphate uridyltransferase deficiency / Galactosemia type 1", "OMIM:230400": "GALACTOSEMIA I; GALAC1", "ORPHA:79240": "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency/Glycogen storage disease type IXb / GSD due to liver and muscle phosphorylase kinase deficiency / GSD type 9B / GSD type IXb / Glycogen storage disease type 9B / Glycogenosis due to liver and muscle phosphorylase kinase deficiency / Glycogenosis type 9B / Glycogenosis type IXb", "OMIM:261750": "GLYCOGEN STORAGE DISEASE IXb; GSD9B", "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 / Juvenile-onset multiple carboxylase deficiency / Late-onset multiple carboxylase deficiency", "OMIM:253260": "BIOTINIDASE DEFICIENCY", "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 / Early-onset multiple carboxylase deficiency / Neonatal multiple carboxylase deficiency", "OMIM:253270": "HOLOCARBOXYLASE SYNTHETASE DEFICIENCY", "ORPHA:79243": "Pyruvate dehydrogenase E1-alpha deficiency/Pyruvate dehydrogenase e1-alpha deficiency / PDHAD / Pyruvate decarboxylase deficiency / Pyruvate dehydrogenase complex E1 component subunit alpha deficiency", "OMIM:312170": "PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD", "ORPHA:79244": "Pyruvate dehydrogenase E2 deficiency/Pyruvate dehydrogenase E2 deficiency / Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency / Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency / Pyruvate dehydrogenase complex component E2 deficiency", "OMIM:245348": "PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD", "ORPHA:1451": "CINCA syndrome/Cinca syndrome / Chronic infantile neurological cutaneous and articular syndrome / IOMID syndrome / Infantile-onset multisystem inflammatory disease / NOMID syndrome / Neonatal-onset multisystem inflammatory disease / Prieur-Griscelli syndrome", "OMIM:607115": "CINCA SYNDROME; CINCA", "ORPHA:79246": "Pyruvate dehydrogenase phosphatase deficiency/Pyruvate dehydrogenase phosphatase deficiency / PDH phosphatase deficiency", "OMIM:608782": "PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD", "ORPHA:79254": "Classic phenylketonuria / Classic PKU", "ORPHA:79255": "GM1 gangliosidosis type 1/GM1-gangliosidosis, type I / Infantile GM1 gangliosidosis / Norman-Landing disease", "OMIM:230500": "GM1-GANGLIOSIDOSIS, TYPE I; GM1G1", "OMIM:230600": "GM1-GANGLIOSIDOSIS, TYPE II; GM1G2", "OMIM:230650": "GM1-GANGLIOSIDOSIS, TYPE III; GM1G3", "CCRD:35.1": "糖原累积病Ia型/Glycogen storage disease Ia/Glycogen storage disease Ia", "OMIM:232200": "GLYCOGEN STORAGE DISEASE Ia; GSD1A", "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 / G6P deficiency type Ib / G6P translocase deficiency / G6PT deficiency / GSD due to G6P deficiency type 1b / GSD due to G6P deficiency type Ib / GSD due to G6PT deficiency / GSD type 1 non a / GSD type 1b / GSD type Ib / GSDIb / Glycogen storage disease due to G6P deficiency type Ib / Glycogen storage disease type 1b / Glycogen storage disease type Ib / Glycogenosis due to glucose-6-phosphatase deficiency type 1b / Glycogenosis due to glucose-6-phosphatase transport defect type Ib / Glycogenosis type 1b / Glycogenosis type Ib", "OMIM:232220": "GLYCOGEN STORAGE DISEASE Ib; GSD1B", "ORPHA:79262": "Adult neuronal ceroid lipofuscinosis / OBSOLETE: Adult neuronal ceroid lipofuscinosis / OBSOLETE: ANCL / OBSOLETE: Adult CLN disease / OBSOLETE: Adult NCL / OBSOLETE: Adult NCL disease / OBSOLETE: Kufs disease", "ORPHA:79263": "Infantile neuronal ceroid lipofuscinosis / OBSOLETE: Infantile neuronal ceroid lipofuscinosis / OBSOLETE: Hagberg-Santavuori disease / OBSOLETE: INCL / OBSOLETE: Infantile NCL / OBSOLETE: Santavuori disease / OBSOLETE: Santavuori-Haltia disease", "ORPHA:1452": "Cleidocranial dysplasia/Cleidocranial dysplasia / Cleidocranial dysostosis", "OMIM:119600": "CLEIDOCRANIAL DYSPLASIA 1; CLCD1", "ORPHA:79264": "Juvenile neuronal ceroid lipofuscinosis / OBSOLETE: Juvenile neuronal ceroid lipofuscinosis / OBSOLETE: Batten disease / OBSOLETE: JNCL / OBSOLETE: Juvenile CLN disease / OBSOLETE: Juvenile NCL / OBSOLETE: Juvenile NCL disease / OBSOLETE: Spielmeyer-Vogt disease", "OMIM:252900": "MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A", "OMIM:252920": "MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B", "OMIM:252930": "MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C", "OMIM:252940": "MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D", "ORPHA:79273": "Hereditary coproporphyria/Coproporphyria", "OMIM:121300": "COPROPORPHYRIA, HEREDITARY; HCP", "ORPHA:79276": "Acute intermittent porphyria/Porphyria, acute intermittent", "OMIM:176000": "PORPHYRIA, ACUTE INTERMITTENT; AIP", "ORPHA:79277": "Congenital erythropoietic porphyria/Porphyria, congenital erythropoietic / CEP / Günther disease", "OMIM:263700": "PORPHYRIA, CONGENITAL ERYTHROPOIETIC; CEP", "ORPHA:79278": "Autosomal erythropoietic protoporphyria/Protoporphyria, erythropoietic, 1", "OMIM:177000": "PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1", "ORPHA:79279": "Alpha-N-acetylgalactosaminidase deficiency type 1/Schindler disease, type I / NAGA deficiency type 1 / Schindler disease type 1", "OMIM:609241": "SCHINDLER DISEASE, TYPE I", "ORPHA:1453": "Cleidorhizomelic syndrome/Cleidorhizomelic syndrome / Rhizomelic shortness with clavicular defect / Wallis-Zieff-Goldblatt syndrome", "OMIM:119650": "CLEIDORHIZOMELIC SYNDROME", "ORPHA:79280": "Alpha-N-acetylgalactosaminidase deficiency type 2/Kanzaki disease / Adult-onset Alpha-N-acetylgalactosaminidase deficiency / NAGA deficiency type 2 / Schindler disease type 2", "OMIM:609242": "KANZAKI DISEASE", "ORPHA:79281": "Alpha-N-acetylgalactosaminidase deficiency type 3 / NAGA deficiency type 3 / Schindler disease type 3", "ORPHA:79282": "Methylmalonic acidemia with homocystinuria, type cblC/Methylmalonic aciduria and homocystinuria, Cblc type / CblC defect / Cobalamin C defect / Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC / Methylmalonic aciduria with homocystinuria, type cblC", "OMIM:277400": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC", "ORPHA:79283": "Methylmalonic acidemia with homocystinuria, type cblD/Methylmalonic aciduria and homocystinuria, Cbld type / CblD defect / Cobalamin D defect / Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD / Methylmalonic aciduria with homocystinuria, type cblD", "OMIM:277410": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD", "ORPHA:79284": "Methylmalonic acidemia with homocystinuria type cblF/Methylmalonic aciduria and homocystinuria, Cblf type / CblF defect / Cobalamin F defect / Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF / Lysosomal membrane cobalamin transporter deficiency / Methylmalonic aciduria with homocystinuria, type cblF", "OMIM:277380": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; MAHCF", "ORPHA:79292": "Fish-eye disease/Fish-Eye disease / FED / Partial LCAT deficiency", "OMIM:136120": "FISH-EYE DISEASE; FED", "OMIM:245900": "LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY", "ORPHA:79299": "Hyperinsulinism due to glucokinase deficiency/Hyperinsulinemic hypoglycemia, familial, 3 / Congenital glucokinase-related hyperinsulinism / Glucokinase-related hyperinsulinemic hypoglycemia", "OMIM:602485": "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3", "ORPHA:793": "SAPHO syndrome / Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome", "ORPHA:1454": "Joubert syndrome with hepatic defect/Coach syndrome 1 / COACH syndrome / Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis / Gentile syndrome / JS-H / Joubert syndrome with congenital hepatic fibrosis", "OMIM:216360": "COACH SYNDROME 1; COACH1", "ORPHA:79301": "Congenital bile acid synthesis defect type 1/Bile acid synthesis defect, congenital, 1 / 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency / BASD1", "OMIM:607765": "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1", "ORPHA:79302": "Congenital bile acid synthesis defect type 3/Bile acid synthesis defect, congenital, 3 / BASD3 / Oxysterol 7-alpha-hydroxylase deficiency", "OMIM:613812": "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3", "ORPHA:79303": "Congenital bile acid synthesis defect type 2/Bile acid synthesis defect, congenital, 2 / BASD2 / Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency", "OMIM:235555": "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2", "OMIM:601847": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2", "OMIM:602347": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3", "OMIM:211600": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1", "OMIM:251100": "METHYLMALONIC ACIDURIA, cblA TYPE; MACA", "OMIM:251110": "METHYLMALONIC ACIDURIA, cblB TYPE; MACB", "ORPHA:79312": "Vitamin B12-unresponsive methylmalonic acidemia type mut- / Partial deficiency of methylmalonyl-CoA mutase / Vitamin B12-unresponsive methylmalonic aciduria type mut-", "ORPHA:79314": "L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria / L-2-HGA / L-2-hydroxyglutaric acidemia", "OMIM:236792": "L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA", "ORPHA:1455": "Autosomal dominant coarctation of aorta / OBSOLETE: Autosomal dominant coarctation of aorta", "OMIM:600721": "D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1", "ORPHA:79318": "PMM2-CDG/Congenital disorder of glycosylation, type Ia / CDG syndrome type Ia / CDG-Ia / CDG1A / Carbohydrate deficient glycoprotein syndrome type Ia / Congenital disorder of glycosylation type 1a / Congenital disorder of glycosylation type Ia / Phosphomannomutase 2 deficiency", "OMIM:212065": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A", "ORPHA:79319": "MPI-CDG/Congenital disorder of glycosylation, type Ib / CDG syndrome type Ib / CDG-Ib / CDG1B / Carbohydrate deficient glycoprotein syndrome type Ib / Congenital disorder of glycosylation type 1b / Congenital disorder of glycosylation type Ib / Phosphomannose isomerase deficiency", "OMIM:602579": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B", "ORPHA:79320": "ALG6-CDG/Congenital disorder of glycosylation, type Ic / CDG syndrome type Ic / CDG-Ic / CDG1C / Carbohydrate deficient glycoprotein syndrome type Ic / Congenital disorder of glycosylation type 1c / Congenital disorder of glycosylation type Ic / Glucosyltransferase 1 deficiency", "OMIM:603147": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C", "ORPHA:79321": "ALG3-CDG/Congenital disorder of glycosylation, type Id / CDG syndrome type Id / CDG-Id / CDG1D / Carbohydrate deficient glycoprotein syndrome type Id / Congenital disorder of glycosylation type 1d / Congenital disorder of glycosylation type Id / Mannosyltransferase 6 deficiency", "OMIM:601110": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D", "ORPHA:79322": "DPM1-CDG/Congenital disorder of glycosylation, type IE / CDG syndrome type Ie / CDG-Ie / CDG1E / Carbohydrate deficient glycoprotein syndrome type Ie / Congenital disorder of glycosylation type 1e / Congenital disorder of glycosylation type Ie / Dol-P-mannosyltransferase deficiency", "OMIM:608799": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E", "ORPHA:79323": "MPDU1-CDG/Congenital disorder of glycosylation, type IF / CDG syndrome type If / CDG-If / CDG1F / Carbohydrate deficient glycoprotein syndrome type If / Congenital disorder of glycosylation type 1f / Congenital disorder of glycosylation type If", "OMIM:609180": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F", "ORPHA:79324": "ALG12-CDG/Congenital disorder of glycosylation, type Ig / CDG syndrome type Ig / CDG-Ig / CDG1G / Carbohydrate deficient glycoprotein syndrome type Ig / Congenital disorder of glycosylation type 1g / Congenital disorder of glycosylation type Ig / Mannosyltransferase 8 deficiency", "OMIM:607143": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G", "ORPHA:79325": "ALG8-CDG/Congenital disorder of glycosylation, type Ih / CDG syndrome type Ih / CDG-Ih / CDG1H / Carbohydrate deficient glycoprotein syndrome type Ih / Congenital disorder of glycosylation type 1h / Congenital disorder of glycosylation type Ih / Glucosyltransferase 2 deficiency", "OMIM:608104": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H", "ORPHA:79326": "ALG2-CDG/Congenital disorder of glycosylation, type Ii / CDG syndrome type Ii / CDG-Ii / CDG1I / Carbohydrate deficient glycoprotein syndrome type Ii / Congenital disorder of glycosylation type 1i / Congenital disorder of glycosylation type Ii / Mannosyltransferase 2 deficiency", "OMIM:607906": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I", "ORPHA:79327": "ALG1-CDG/Congenital disorder of glycosylation, type Ik / CDG syndrome type Ik / CDG-Ik / CDG1K / Carbohydrate deficient glycoprotein syndrome type Ik / Congenital disorder of glycosylation type 1k / Congenital disorder of glycosylation type Ik / Mannosyltransferase 1 deficiency", "OMIM:608540": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K", "ORPHA:79328": "ALG9-CDG/Congenital disorder of glycosylation, type Il / CDG syndrome type IL / CDG-IL / CDG1L / Carbohydrate deficient glycoprotein syndrome type IL / Congenital disorder of glycosylation type 1L / Mannosyltransferase 7-9 deficiency", "OMIM:608776": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L", "ORPHA:79329": "MGAT2-CDG/Congenital disorder of glycosylation, type IIa / CDG syndrome type IIa / CDG-IIa / CDG2A / Carbohydrate deficient glycoprotein syndrome type IIa / Congenital disorder of glycosylation type 2a / Congenital disorder of glycosylation type IIa / N-acetylglucosaminyltransferase 2 deficiency", "OMIM:212066": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A", "ORPHA:79330": "MOGS-CDG/Congenital disorder of glycosylation, type IIB / CDG syndrome type IIb / CDG-IIb / CDG2B / Carbohydrate deficient glycoprotein syndrome type IIb / Congenital disorder of glycosylation type 2b / Congenital disorder of glycosylation type IIb / Glucosidase 1 deficiency", "OMIM:606056": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B", "ORPHA:79332": "B4GALT1-CDG/Congenital disorder of glycosylation, type IID / Beta-1,4-galactosyltransferase deficiency / CDG syndrome type IId / CDG-IId / CDG2D / Carbohydrate deficient glycoprotein syndrome type IId / Congenital disorder of glycosylation type 2d / Congenital disorder of glycosylation type IId", "OMIM:607091": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D", "ORPHA:79333": "COG7-CDG/Congenital disorder of glycosylation, type IIe / CDG syndrome type IIe / CDG-IIe / CDG2E / Carbohydrate deficient glycoprotein syndrome type IIe / Congenital disorder of glycosylation type 2e / Congenital disorder of glycosylation type IIe", "OMIM:608779": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E", "ORPHA:79345": "Brachytelephalangic chondrodysplasia punctata/Chondrodysplasia punctata 1, X-linked recessive", "OMIM:302950": "CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1", "OMIM:118651": "CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE", "ORPHA:79350": "3-phosphoserine phosphatase deficiency, infantile/juvenile form/Phosphoserine phosphatase deficiency / PSPH deficiency, infantile/juvenile form", "OMIM:614023": "PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD", "ORPHA:1457": "Aorta coarctation/Coarctation of aorta", "OMIM:120000": "COARCTATION OF AORTA", "ORPHA:79351": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form/Phosphoglycerate dehydrogenase deficiency / PHGDH deficiency, infantile/juvenile form", "OMIM:601815": "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD", "ORPHA:79357": "Hereditary palmoplantar keratoderma / Hereditary PPK / Hereditary keratosis palmoplantaris / Hereditary palmoplantar hyperkeratosis", "ORPHA:79358": "Porokeratosis", "ORPHA:1458": "CODAS syndrome/CODAS syndrome / Cerebrooculodentoauriculoskeletal syndrome", "OMIM:600373": "CODAS SYNDROME", "OMIM:226810": "EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS", "ORPHA:79394": "Congenital non-bullous ichthyosiform erythroderma / Congenital ichthyosiform erythroderma / CIE / Erythrodermic ichthyosis / Non-bullous congenital ichthyosiform erythroderma", "ORPHA:79395": "Keratoderma hereditarium mutilans with ichthyosis/Vohwinkel syndrome, variant form / Camisa disease / Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome / Loricrin keratoderma / Vohwinkel syndrome with ichthyosis", "OMIM:604117": "VOHWINKEL SYNDROME, VARIANT FORM", "ORPHA:79396": "Autosomal dominant generalized epidermolysis bullosa simplex, severe form/Epidermolysis bullosa simplex, Dowling-Meara type / Autosomal dominant generalized EBS, severe form / Epidermolysis bullosa simplex herpetiformis", "OMIM:131760": "EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE; EBS1A", "ORPHA:79397": "Epidermolysis bullosa simplex with mottled pigmentation/Epidermolysis bullosa simplex with mottled pigmentation / EBS with mottled pigmentation / EBS-MP", "OMIM:131960": "EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION; EBS2F", "ORPHA:79399": "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form/Epidermolysis bullosa simplex 1B, generalized intermediate / Autosomal dominant generalized EBS, intermediate form / Epidermolysis bullosa simplex, Koebner type / Epidermolysis bullosa simplex, Köbner type", "OMIM:131900": "EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B", "ORPHA:794": "Saethre-Chotzen syndrome/Saethre-Chotzen syndrome / ACS3 / Acrocephalosyndactyly type 3 / SCS", "OMIM:101400": "SAETHRE-CHOTZEN SYNDROME; SCS", "ORPHA:79400": "Localized epidermolysis bullosa simplex/Epidermolysis bullosa simplex, Weber-Cockayne type / EBS-loc / Epidermolysis bullosa simplex of palms and soles / Localized EBS", "OMIM:131800": "EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED; EBS1C", "ORPHA:79401": "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement/Epidermolysis bullosa simplex, Ogna type / PLEC-related intermediate EBS without extracutaneous involvement", "OMIM:131950": "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE; EBS5A", "ORPHA:79402": "Intermediate generalized junctional epidermolysis bullosa / Generalized atrophic benign epidermolysis bullosa / Generalized junctional epidermolysis bullosa, non-Herlitz type / Intermediate generalized JEB / Junctional epidermolysis bullosa generalisata mitis / Junctional epidermolysis bullosa, Disentis type", "ORPHA:79403": "Junctional epidermolysis bullosa with pyloric atresia/Epidermolysis bullosa, junctional, with pyloric atresia / Carmi syndrome / JEB with pyloric atresia / JEB-PA", "OMIM:226730": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B", "ORPHA:79404": "Severe generalized junctional epidermolysis bullosa/Epidermolysis bullosa, junctional, Herlitz type / Epidermolysis bullosa letalis / JEB-H / Junctional epidermolysis bullosa generalisata gravis / Junctional epidermolysis bullosa, Herlitz type / Junctional epidermolysis bullosa, Herlitz-Pearson type / Severe generalized JEB", "OMIM:226700": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE; JEB1B", "ORPHA:1461": "Criss-cross heart / Criss-cross atrioventricular relationships / Superoinferior ventricles / Twisted atrioventricular connections", "ORPHA:79405": "Junctional epidermolysis bullosa inversa / JEB inversa / JEB-I", "ORPHA:79406": "Late-onset junctional epidermolysis bullosa / Epidermolysis bullosa progressiva / JEB-lo / Late-onset JEB", "ORPHA:79408": "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form/Epidermolysis bullosa dystrophica, autosomal recessive / Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis / Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type / Generalized RDEB, severe form / RDEB generalisata gravis / RDEB, Hallopeau-Siemens type / Severe generalized RDEB", "OMIM:226600": "EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB", "ORPHA:79409": "Recessive dystrophic epidermolysis bullosa inversa / RDEB inversa / RDEB-I", "ORPHA:79410": "Localized dystrophic epidermolysis bullosa, pretibial form/Epidermolysis bullosa dystrophica, pretibial / DEB-Pt / Localized DEB, pretibial form", "OMIM:131850": "EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL", "ORPHA:79411": "Self-improving dystrophic epidermolysis bullosa/Transient bullous dermolysis of the newborn / Self-improving DEB", "OMIM:131705": "TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN", "ORPHA:79430": "Hermansky-Pudlak syndrome / HPS", "ORPHA:79431": "Oculocutaneous albinism type 1A/Albinism, oculocutaneous, type IA / OCA1A / Tyrosinase-negative oculocutaneous albinism", "OMIM:203100": "ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A", "ORPHA:79432": "Oculocutaneous albinism type 2/Albinism, oculocutaneous, type II / OCA2", "OMIM:203200": "ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2", "ORPHA:79433": "Oculocutaneous albinism type 3/Albinism, oculocutaneous, type III / OCA3 / Red oculocutaneous albinism / Rufous oculocutaneous albinism / Xanthous oculocutaneous albinism", "OMIM:203290": "ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3", "ORPHA:79434": "Oculocutaneous albinism type 1B/Albinism, oculocutaneous, type IB / OCA1B / Oculocutaneous albinism, Amish type / Platinum oculocutaneous albinism / Yellow oculocutaneous albinism", "OMIM:606952": "ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B", "ORPHA:79435": "Oculocutaneous albinism type 4/Albinism, oculocutaneous, type IV / OCA4", "OMIM:606574": "ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4", "ORPHA:79443": "Pseudohypoparathyroidism type 1A/Pseudohypoparathyroidism, type IA / AHO-PHP syndrome Ia / Albright hereditary osteodystrophy-PHP syndrome Ia", "OMIM:103580": "PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A", "ORPHA:79444": "Pseudohypoparathyroidism type 1C/Pseudohypoparathyroidism, type IC", "OMIM:612462": "PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C", "ORPHA:79445": "Pseudopseudohypoparathyroidism/Pseudopseudohypoparathyroidism / AHO-PPHP syndrome / Albright hereditary osteodystrophy-PPHP syndrome", "OMIM:612463": "PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP", "OMIM:312150": "MULTIPLE PTERYGIUM SYNDROME, X-LINKED", "ORPHA:79452": "Milroy disease / Hereditary lymphedema type I / Nonne-Milroy lymphedema", "ORPHA:79455": "Cutaneous mastocytoma / Cutaneous local mastocytoma / Multiple mastocytoma / Solitary mastocytoma", "ORPHA:79456": "Diffuse cutaneous mastocytosis / DCM / Diffuse cutaneous maculopapulous mastocytosis", "ORPHA:79457": "Maculopapular cutaneous mastocytosis / Urticaria pigmentosa", "ORPHA:79473": "Porphyria variegata/Porphyria variegata / Variegate porphyria / Protoporphyrinogen oxidase deficiency", "OMIM:176200": "VARIEGATE PORPHYRIA; VP", "ORPHA:79474": "Atypical Werner syndrome / Atypical progeroid syndrome", "ORPHA:79476": "Griscelli syndrome type 1/Griscelli syndrome, type 1 / Griscelli-Pruniéras syndrome type 1 / Hypopigmentation-neurologic impairment syndrome", "OMIM:214450": "GRISCELLI SYNDROME, TYPE 1; GS1", "ORPHA:79477": "Griscelli syndrome type 2/Griscelli syndrome, type 2 / Griscelli-Pruniéras syndrome type 2 / Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome", "OMIM:607624": "GRISCELLI SYNDROME, TYPE 2; GS2", "ORPHA:79478": "Griscelli syndrome type 3/Griscelli syndrome, type 3 / Griscelli-Pruniéras syndrome type 3", "OMIM:609227": "GRISCELLI SYNDROME, TYPE 3; GS3", "ORPHA:100976": "Bathing suit ichthyosis / BSI", "ORPHA:1465": "Coffin-Siris syndrome / CSS", "ORPHA:79480": "Pemphigus erythematosus / Seborrheic pemphigus / Senear-Usher syndrome", "ORPHA:79481": "Pemphigus foliaceus", "ORPHA:79492": "Pili gemini / Pili multigemini", "ORPHA:79493": "Brooke-Spiegler syndrome/Brooke-Spiegler syndrome / CYLD cutaneous syndrome", "OMIM:605041": "BROOKE-SPIEGLER SYNDROME; BRSS", "ORPHA:1466": "COFS syndrome / Cerebrooculofacioskeletal syndrome / Pena-Shokeir syndrome type 2", "OMIM:307150": "HYPERTRICHOSIS, CONGENITAL GENERALIZED, 2; HTC2", "ORPHA:79499": "Autosomal dominant deafness-onychodystrophy syndrome/Deafness, congenital, and onychodystrophy, autosomal dominant / Autosomal dominant hearing loss-onychodystrophy syndrome / DDOD syndrome", "OMIM:124480": "DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD", "ORPHA:79500": "DOORS syndrome/Doors syndrome / Autosomal recessive deafness-onychodystrophy syndrome / Autosomal recessive hearing loss-onychodystrophy syndrome / DOOR syndrome / Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome / Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome / Deafness-onychoosteodystrophy-intellectual disability syndrome / Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome / Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome / Hearing loss-onychoosteodystrophy-intellectual disability syndrome", "OMIM:220500": "DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; DOORS", "ORPHA:79501": "Punctate palmoplantar keratoderma type 1 / Buschke-Fischer-Brauer syndrome / Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type / PPKP1", "OMIM:175860": "PALMOPLANTAR KERATODERMA, PUNCTATE TYPE II; PPKP2", "ORPHA:79503": "Ichthyosis hystrix of Curth-Macklin/Ichthyosis hystrix, Curth-Macklin type", "OMIM:146590": "ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM", "ORPHA:79506": "Cholesterol-ester transfer protein deficiency/Hyperalphalipoproteinemia 1 / OBSOLETE: Cholesterol-ester transfer protein deficiency / OBSOLETE: CEPT deficiency / OBSOLETE: Familial hyperalphalipoproteinemia type I", "OMIM:143470": "HYPERALPHALIPOPROTEINEMIA 1; HALP1", "OMIM:614037": "LEUKOTRIENE C4 SYNTHASE DEFICIENCY", "ORPHA:796": "Sandhoff disease/Sandhoff disease", "OMIM:268800": "SANDHOFF DISEASE", "ORPHA:1467": "Cogan syndrome", "ORPHA:79665": "Gardner syndrome", "ORPHA:797": "Sarcoidosis/Sarcoidosis, susceptibility to, 1 / Besnier-Boeck-Schaumann disease / Boeck sarcoid", "OMIM:181000": "SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1", "ORPHA:798": "Schinzel-Giedion syndrome/Schinzel-Giedion midface-retraction syndrome / SGS", "OMIM:269150": "SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME", "ORPHA:799": "Schizencephaly/SCHIZENCEPHALY", "OMIM:269160": "SCHIZENCEPHALY", "ORPHA:8": "47,XYY syndrome / Double Y syndrome / Jacobs syndrome / Y disomy", "ORPHA:800": "Schwartz-Jampel syndrome/Schwartz-jampel syndrome, type 1 / Aberfeld syndrome / Burton skeletal dysplasia / Burton syndrome / Catel-Hempel syndrome / Dysostosis enchondralis metaepiphysaria, Catel-Hempel type / Myotonic chondrodystrophy / Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies / Osteochondromuscular dystrophy / SJS / SJS1 / Schwartz-Jampel syndrome type 1 / Schwartz-Jampel-Aberfeld syndrome", "OMIM:255800": "SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1", "ORPHA:147": "Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to / CPS1 deficiency / CPS1D / Carbamoyl-phosphate synthetase I deficiency / Carbamoyl-phosphate synthetase deficiency", "OMIM:237300": "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 / Charcot disease / Lou Gehrig disease", "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 / Bourneville syndrome", "OMIM:262890": "SCOTT SYNDROME; SCTS", "ORPHA:808": "Seckel syndrome", "ORPHA:809": "Mixed connective tissue disease / MCTD / Sharp syndrome", "ORPHA:81": "Antisynthetase syndrome / AS syndrome / ASS / ASyS / Anti-ARS syndrome / Anti-Jo1 syndrome / Anti-aminoacyl-tRNA synthetase syndrome", "ORPHA:811": "Shwachman-Diamond syndrome / Pancreatic insufficiency and bone marrow dysfunction / SDS / Shwachman syndrome / Shwachman-Bodian-Diamond syndrome", "ORPHA:812": "Sialidosis type 1 / Cherry-red spot-myoclonus syndrome / Lipomucopolysaccharidosis / Normomorphic sialidosis", "ORPHA:1471": "Coloboma of macula-brachydactyly type B syndrome/Coloboma of macula with type B brachydactyly / Sorsby syndrome", "OMIM:120400": "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 / Silver-Russell dwarfism", "OMIM:180860": "SILVER-RUSSELL SYNDROME 1; SRS1", "ORPHA:816": "Sjögren-Larsson syndrome/Sjogren-Larsson syndrome / Fatty acid alcohol oxidoreductase deficiency", "OMIM:270200": "SJOGREN-LARSSON SYNDROME; SLS", "ORPHA:818": "Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome / 7-dehydrocholesterol reductase deficiency / RSH syndrome / SLOS", "OMIM:270400": "SMITH-LEMLI-OPITZ SYNDROME; SLOS", "ORPHA:819": "Smith-Magenis syndrome/Smith-Magenis syndrome / 17p11.2 microdeletion syndrome", "OMIM:182290": "SMITH-MAGENIS SYNDROME; SMS", "ORPHA:82": "Hereditary thrombophilia due to congenital antithrombin deficiency/Antithrombin III deficiency / Hereditary thrombophilia due to congenital antithrombin 3 deficiency", "OMIM:613118": "ANTITHROMBIN III DEFICIENCY; AT3D", "ORPHA:820": "Sneddon syndrome/Sneddon syndrome / Ehrmann-Sneddon syndrome / Livedo racemosa-cerebrovascular accident syndrome / Livedo reticularis-cerebrovascular accident syndrome", "OMIM:182410": "SNEDDON SYNDROME; SNDNS", "ORPHA:821": "Sotos syndrome / Cerebral gigantism", "ORPHA:822": "Hereditary spherocytosis/Spherocytosis, type 1 / Minkowski-Chauffard disease", "OMIM:182900": "SPHEROCYTOSIS, TYPE 1; SPH1", "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": "COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT; COB1", "ORPHA:824": "Primary myelofibrosis/Myelofibrosis with myeloid metaplasia, somatic / Agnogenic myeloid metaplasia / Idiopathic myelofibrosis / Osteomyelofibrosis", "OMIM:254450": "MYELOFIBROSIS", "ORPHA:827": "Stargardt disease/Stargardt disease 1 / Fundus flavimaculatus / Stargardt 1", "OMIM:248200": "STARGARDT DISEASE 1; STGD1", "ORPHA:828": "Stickler syndrome / Hereditary progressive arthroophthalmopathy", "ORPHA:829": "Adult-onset Still disease / AOSD / Wissler-Fanconi syndrome", "ORPHA:83": "Antley-Bixler syndrome/Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "OMIM:207410": "ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2", "OMIM:245050": "SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY; SCOTD", "ORPHA:833": "Encephalopathy due to sulfite oxidase deficiency", "ORPHA:1475": "Renal coloboma syndrome/Papillorenal syndrome / Coloboma of optic nerve with renal disease / Papillo-renal syndrome", "OMIM:120330": "PAPILLORENAL SYNDROME; PAPRS", "ORPHA:83317": "Scrub typhus / Tsutsugamushi disease / Tsutsugamushi fever", "OMIM:253300": "SPINAL MUSCULAR ATROPHY, TYPE I; SMA1", "ORPHA:834": "Free sialic acid storage disease / FSASD / Free sialic acid storage disorder", "OMIM:253550": "SPINAL MUSCULAR ATROPHY, TYPE II; SMA2", "OMIM:108800": "ATRIAL SEPTAL DEFECT 1; ASD1", "OMIM:253400": "SPINAL MUSCULAR ATROPHY, TYPE III; SMA3", "OMIM:271150": "SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4", "ORPHA:83452": "Complex regional pain syndrome", "ORPHA:83453": "Vulvovaginal gingival syndrome", "ORPHA:83454": "Glomuvenous malformation/Glomuvenous malformations / Glomangiomatosis / Hereditary multiple glomangiomas / Multiple glomus tumors / VMGLOM / Venous malformations with glomus cells", "OMIM:138000": "GLOMUVENOUS MALFORMATIONS; GVM", "ORPHA:83461": "Congenital primary aphakia/Anterior segment dysgenesis 2", "OMIM:610256": "ANTERIOR SEGMENT DYSGENESIS 2; ASGD2", "ORPHA:83463": "Microtia/MICROTIA-ANOTIA", "OMIM:600674": "MICROTIA-ANOTIA", "ORPHA:83465": "Narcolepsy type 2 / Narcolepsy without cataplexy", "ORPHA:1479": "Atrial septal defect-atrioventricular conduction defects syndrome/Atrial septal defect with atrioventricular conduction defects", "OMIM:108900": "ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ASD7", "ORPHA:83468": "Solitary bone cyst / Unicameral bone cyst", "ORPHA:83469": "Desmoplastic small round cell tumor / DSRCT", "ORPHA:83471": "Thymic aplasia/Immune defect due to absence of thymus / T-cell immunodeficiency with thymic aplasia / Isolated aplasia/hypoplasia of the thymus / Isolated congenital athymia / Isolated congenital thymic aplasia/hypoplasia / Isolated thymic defect due to thymic aplasia/hypoplasia / Nezelof syndrome", "OMIM:242700": "T-CELL IMMUNODEFICIENCY WITH THYMIC APLASIA; TIDTA", "ORPHA:83472": "CAMOS syndrome / Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome / SCAR5", "ORPHA:83473": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome / MPPH syndrome", "ORPHA:148": "Multiple carboxylase deficiency", "ORPHA:83600": "Encephalitis lethargica / Von Economo encephalitis", "ORPHA:83601": "Steroid-responsive encephalopathy associated with autoimmune thyroiditis / Hashimoto encephalitis / SREAT", "ORPHA:83617": "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome", "ORPHA:83619": "Macrostomia-preauricular tags-external ophthalmoplegia syndrome", "ORPHA:83620": "Enteric anendocrinosis/Diarrhea 4, malabsorptive, congenital / Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells", "OMIM:610370": "DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY; DIAR4", "ORPHA:83628": "LUMBAR syndrome / Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome / PELVIS syndrome / Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome / SACRAL syndrome", "ORPHA:83629": "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome/Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration / H-SMD / Hypomyelination-spondyloepimetaphyseal dysplasia syndrome / Leukoencephalopathy-SEMD syndrome / Leukoencephalopathy-metaphyseal chondrodysplasia syndrome", "OMIM:300232": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY; SEMDHL", "OMIM:610293": "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1", "OMIM:206100": "ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1", "ORPHA:838": "Susac syndrome / Retinocochleocerebral vasculopathy", "ORPHA:839": "Congenital nephrotic syndrome, Finnish type/Nephrotic syndrome, type 1 / Finnish congenital nephrosis", "OMIM:256300": "NEPHROTIC SYNDROME, TYPE 1; NPHS1", "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 / Fanconi pancytopenia", "OMIM:227650": "FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA", "ORPHA:840": "Syringocystadenoma papilliferum / Fistulous vegetative verrucous hydradenoma / Naevus syringocystadenomatosus papilliferus / Papillary syringocystadenoma / SCAP / Syringadenoma papilliferum", "ORPHA:84064": "Syndromic diarrhea/Trichohepatoenteric syndrome 1 / Phenotypic diarrhea / SD/THE / Syndromic diarrhea/Tricho-hepato-enteric syndrome", "OMIM:222470": "TRICHOHEPATOENTERIC SYNDROME 1; THES1", "ORPHA:1484": "Contractures-ectodermal dysplasia-cleft lip/palate syndrome / Ladda-Zonana-Ramer syndrome", "ORPHA:84085": "Hinman syndrome / HAS / HS / Hinman-Allen syndrome / Non-neurogenic neurogenic bladder / Occult neuropathic bladder", "ORPHA:84090": "Fibronectin glomerulopathy/Glomerulopathy with fibronectin deposits 1 / GFND", "OMIM:137950": "GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1", "ORPHA:841": "Sebocystomatosis/Steatocystoma multiplex", "OMIM:184500": "STEATOCYSTOMA MULTIPLEX", "ORPHA:84142": "Isaacs syndrome / Continuous muscle fiber activity syndrome / Isaacs-Mertens syndrome / Quantal squander syndrome", "OMIM:208158": "ARTHROGRYPOSIS WITH HYPERKERATOSIS", "OMIM:108950": "ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL", "ORPHA:845": "Tay-Sachs disease/Tay-Sachs disease / Beta-hexosaminidase subunit alpha deficiency / GM2 gangliosidosis, Tay-Sachs variant / GM2 gangliosidosis, hexosaminidase A deficiency variant / HEXA disorder", "OMIM:272800": "TAY-SACHS DISEASE; TSD", "ORPHA:846": "Alpha-thalassemia/ALPHA-THALASSEMIA", "OMIM:604131": "ALPHA-THALASSEMIA", "ORPHA:847": "Alpha-thalassemia-X-linked intellectual disability syndrome/Alpha-Thalassemia/mental retardation syndrome, X-linked / X-linked alpha-thalassemia-intellectual disability syndrome / ATR-X syndrome", "OMIM:301040": "ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED; ATRX", "ORPHA:848": "Beta-thalassemia", "ORPHA:849": "Glanzmann thrombasthenia/Glanzmann thrombasthenia", "OMIM:273800": "GLANZMANN THROMBASTHENIA 1; GT1", "ORPHA:851": "Paris-Trousseau thrombocytopenia/Thrombocytopenia, Paris-Trousseau type", "OMIM:188025": "THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT", "OMIM:604218": "ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB", "ORPHA:1486": "Lethal congenital contracture syndrome type 1/Lethal congenital contracture syndrome 1 / Herva disease / LCCS1 / Multiple contracture syndrome, Finnish type", "OMIM:253310": "LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1", "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 / Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome", "OMIM:610644": "PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL", "ORPHA:85128": "Bothnia retinal dystrophy/Bothnia retinal dystrophy / Västerbotten dystrophy", "OMIM:607475": "BOTHNIA RETINAL DYSTROPHY", "OMIM:612951": "LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY", "ORPHA:85138": "Addison disease/Hypoadrenocorticism, familial / Autoimmune Addison disease / Autoimmune adrenalitis / Classic Addison disease / Primary Addison disease", "OMIM:240200": "HYPOADRENOCORTICISM, FAMILIAL", "OMIM:181400": "SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK", "ORPHA:85162": "Facial onset sensory and motor neuronopathy / FOSMN syndrome", "ORPHA:85163": "Hypomyelination-congenital cataract syndrome/Leukodystrophy, hypomyelinating, 5", "OMIM:610532": "LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5", "ORPHA:85164": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome/Camptodactyly, tall stature, and hearing loss syndrome / CATSHL syndrome / Camptodactyly-tall stature-scoliosis-deafness syndrome", "OMIM:610474": "CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS", "ORPHA:85165": "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome/Achondroplasia, severe, with developmental delay and acanthosis nigricans / SADDAN", "OMIM:616482": "ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN", "ORPHA:85166": "Platyspondylic dysplasia, Torrance type/Platyspondylic lethal skeletal dysplasia, Torrance type / PLSD-T / Platyspondylic dysplasia, Torrance-Luton type", "OMIM:151210": "PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT", "ORPHA:1487": "Cooks syndrome/Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges / Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome / ODP", "OMIM:106995": "ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES", "ORPHA:85167": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome/Spondylometaphyseal dysplasia with cone-rod dystrophy / SMD-CRD", "OMIM:608940": "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD", "ORPHA:85168": "Craniofacial conodysplasia", "ORPHA:85169": "Familial digital arthropathy-brachydactyly/Digital arthropathy-brachydactyly, familial", "OMIM:606835": "DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB", "ORPHA:85170": "Mesomelic dysplasia, Savarirayan type/Mesomelic dysplasia, Savarirayan type / Mesomelic dysplasia with absent fibulas and triangular tibias / Triangular tibia-fibular aplasia syndrome", "OMIM:605274": "MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE", "ORPHA:85172": "Microcephalic osteodysplastic dysplasia, Saul-Wilson type/Saul-Wilson syndrome", "OMIM:618150": "SAUL-WILSON SYNDROME; SWILS", "ORPHA:85173": "IMAGe syndrome/Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies / Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome", "OMIM:614732": "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES; IMAGE", "ORPHA:85174": "Pseudodiastrophic dysplasia/Pseudodiastrophic dysplasia", "OMIM:264180": "PSEUDODIASTROPHIC DYSPLASIA; PDD", "ORPHA:85175": "Astley-Kendall dysplasia", "ORPHA:85179": "Infantile osteopetrosis with neuroaxonal dysplasia", "OMIM:112250": "DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH", "ORPHA:1488": "Cooper-Jabs syndrome/Aural atresia, multiple congenital anomalies, and mental retardation / Aural atresia-multiple congenital anomalies-intellectual disability syndrome", "OMIM:209770": "AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "ORPHA:85184": "Craniometadiaphyseal dysplasia, wormian bone type/Craniometadiaphyseal dysplasia", "OMIM:269300": "CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD", "OMIM:182250": "SINGLETON-MERTEN SYNDROME 1; SGMRT1", "OMIM:126550": "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY; CDL", "ORPHA:85193": "Idiopathic juvenile osteoporosis / IJO / Juvenile osteoporosis", "ORPHA:85194": "Spondylo-ocular syndrome/Spondyloocular syndrome", "OMIM:605822": "SPONDYLOOCULAR SYNDROME; SOS", "OMIM:174810": "FAMILIAL EXPANSILE OSTEOLYSIS; FEO", "ORPHA:85197": "Genochondromatosis type 1", "ORPHA:85198": "Dysspondyloenchondromatosis", "ORPHA:85199": "Craniosynostosis-anal anomalies-porokeratosis syndrome/CDAGS syndrome / CAP syndrome", "OMIM:603116": "CDAGS SYNDROME", "OMIM:313900": "THROMBOCYTOPENIA 1; THC1", "ORPHA:85201": "Genitopatellar syndrome/Genitopatellar syndrome / Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome", "OMIM:606170": "GENITOPATELLAR SYNDROME; GTPTS", "ORPHA:85202": "Keutel syndrome/Keutel syndrome / Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome", "OMIM:245150": "KEUTEL SYNDROME; KTLS", "ORPHA:85203": "Acropectoral syndrome/Acropectoral syndrome / ACRP syndrome / Syndactyly-preaxial polydactyly-sternal deformity syndrome", "OMIM:605967": "ACROPECTORAL SYNDROME; ACRPS", "ORPHA:85212": "Fetal Gaucher disease/Gaucher disease, perinatal lethal / Perinatal lethal Gaucher disease", "OMIM:608013": "GAUCHER DISEASE, PERINATAL LETHAL", "ORPHA:85273": "X-linked intellectual disability, Abidi type/X-LINKED intellectual disability, Abidi type", "OMIM:300262": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ABIDI TYPE; MRXSAB", "ORPHA:85274": "Syndromic X-linked intellectual disability 7/Syndromic X-linked intellectual disability 7 / MRXS7 / X-linked intellectual disability, Ahmad type", "OMIM:300218": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 7; MRXS7", "ORPHA:85275": "Microphthalmia-ankyloblepharon-intellectual disability syndrome / MCOPS4 / Syndromic microphthalmia type 4", "ORPHA:1490": "Corneal dystrophy-perceptive deafness syndrome/Corneal endothelial dystrophy and perceptive deafness / CDPD / Corneal dystrophy with progressive deafness / Corneal dystrophy with progressive hearing loss / Corneal dystrophy-perceptive hearing loss syndrome / Harboyan syndrome", "OMIM:217400": "CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD", "ORPHA:85276": "X-linked intellectual disability, Armfield type/Mental retardation syndrome, X-linked, Armfield type / Armfield syndrome", "OMIM:300261": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE; MRXSA", "ORPHA:85277": "X-linked intellectual disability, Cantagrel type/Mental retardation, X-linked 98", "OMIM:300912": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98; XLID98", "ORPHA:85278": "Christianson syndrome/Mental retardation, x-linked syndromic, Christianson type / X-linked Angelman-like syndrome", "OMIM:300243": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH", "ORPHA:85279": "KDM5C-related syndromic X-linked intellectual disability/Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type", "OMIM:300534": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ", "ORPHA:85280": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome/Cubitus valgus with mental retardation and unusual facies", "OMIM:300471": "CUBITUS VALGUS WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND UNUSUAL FACIES", "ORPHA:85282": "MEHMO syndrome/Mehmo syndrome / X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome", "OMIM:300148": "MEHMO SYNDROME; MEHMO", "ORPHA:85284": "BRESEK syndrome / BRESHECK syndrome", "ORPHA:85285": "X-linked intellectual disability, Schimke type/Schimke X-linked mental retardation syndrome", "OMIM:312840": "SCHIMKE SYNDROME", "ORPHA:85286": "X-linked intellectual disability, Shashi type/Mental retardation, X-linked, syndromic 11 / Syndromic X-linked intellectual disability type 11", "OMIM:300238": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SHASHI TYPE; MRXSSH", "ORPHA:1493": "Vici syndrome/Vici syndrome / Corpus callosum agenesis-cataract-immunodeficiency syndrome / Dionisi-Vici-Sabetta-Gambarara syndrome", "OMIM:242840": "VICI SYNDROME; VICIS", "ORPHA:85287": "X-linked intellectual disability, Siderius type/Siderius X-linked mental retardation syndrome", "OMIM:300263": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE; MRXSSD", "ORPHA:85288": "X-linked intellectual disability, Stocco Dos Santos type/Stocco dos santos X-linked mental retardation syndrome", "OMIM:300434": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE; SDSX", "ORPHA:85290": "X-linked intellectual disability, Wilson type/Mental retardation, X-linked, syndromic 12", "OMIM:309545": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 12; MRXS12", "ORPHA:85292": "X-linked spinocerebellar ataxia type 4 / SCAX4 / X-linked ataxia-dementia syndrome", "ORPHA:85293": "X-linked intellectual disability, Cabezas type/Mental retardation, X-linked, syndromic, Cabezas type / Cabezas syndrome", "OMIM:300354": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC", "ORPHA:85294": "X-linked epilepsy-learning disabilities-behavior disorders syndrome/Epilepsy, X-linked, with variable learning disabilities and behavior disorders", "OMIM:300491": "EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS; EPILX1", "ORPHA:85295": "HSD10 disease, atypical type / HSD10 deficiency, atypical type / Syndromic X-linked intellectual disability type 10 / X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome", "ORPHA:85297": "X-linked spinocerebellar ataxia type 3 / SCAX3 / X-linked ataxia-deafness syndrome / X-linked ataxia-hearing loss syndrome", "ORPHA:853": "Fetal and neonatal alloimmune thrombocytopenia / FNAIT", "ORPHA:85317": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "ORPHA:1495": "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome / Da Silva syndrome", "ORPHA:85319": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "ORPHA:85320": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome / Johnson syndrome", "ORPHA:85321": "Deafness-intellectual disability syndrome, Martin-Probst type/Mental retardation, X-linked, syndromic, Martin-Probst type / Hearing loss-intellectual disability syndrome, Martin-Probst type / Martin-Probst syndrome / X-linked deafness-intellectual disability syndrome / X-linked hearing loss-intellectual disability syndrome", "OMIM:300519": "MARTIN-PROBST SYNDROME; MRXSMP", "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 / MRXS9", "OMIM:300709": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 9; MRXS9", "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": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST", "ORPHA:1496": "Corpus callosum agenesis-neuronopathy syndrome/Agenesis of the corpus callosum with peripheral neuropathy / Andermann syndrome / Charlevoix disease", "OMIM:218000": "AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN", "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 / Aldred syndrome / Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion / Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) / Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3", "OMIM:300578": "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 / Juvenile polyarthritis without rheumatoid factor / Juvenile rheumatoid factor-negative polyarthritis / Rheumatoid factor-negative polyarticular JIA", "ORPHA:85410": "Oligoarticular juvenile idiopathic arthritis / Oligoarticular JIA / Pauciarticular chronic arthritis", "ORPHA:85414": "Systemic-onset juvenile idiopathic arthritis / Still disease / Systemic-onset JIA", "ORPHA:1497": "X-linked complicated corpus callosum dysgenesis/Corpus callosum, partial agenesis of, X-linked", "OMIM:304100": "CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED", "ORPHA:85435": "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis / Juvenile idiopathic rheumatoid factor-positive polyarthritis / Juvenile polyarthritis with rheumatoid factor / Rheumatoid factor-positive polyarticular JIA", "ORPHA:85436": "Psoriasis-related juvenile idiopathic arthritis / Juvenile psoriatic arthritis / Psoriasis-related JIA", "ORPHA:85438": "Enthesitis-related juvenile idiopathic arthritis / Enthesitis-related JIA / Juvenile ERA", "OMIM:262700": "PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4", "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 / Light-chain amyloidosis", "ORPHA:85445": "AA amyloidosis / Inflammatory amyloidosis / Reactive amyloidosis", "ORPHA:85446": "Wild type ABeta2M amyloidosis / ABeta2Mwt amyloidosis / Dialysis-related amyloidosis / Dialysis-related arthropathy / Wild type ABeta2-microglobulinic amyloidosis", "ORPHA:85447": "ATTRV30M amyloidosis/Amyloidosis, hereditary, transthyretin-related / ATTRV30M-related amyloidosis / Hereditary ATTRV30M-related amyloidosis", "OMIM:105210": "AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1", "ORPHA:85448": "AGel amyloidosis/Amyloidosis, Finnish type / Familial amyloid polyneuropathy type IV / Familial amyloidosis, Finnish type / Gelsolin amyloidosis / Hereditary amyloidosis, Finnish type", "OMIM:105120": "AMYLOIDOSIS, FINNISH TYPE", "ORPHA:85450": "Hereditary amyloidosis with primary renal involvement/Amyloidosis, familial visceral / Amyloidosis, Ostertag type / Familial amyloid nephropathy / Familial renal amyloidosis / Hereditary amyloid nephropathy / Hereditary renal amyloidosis", "OMIM:105200": "AMYLOIDOSIS, HEREDITARY SYSTEMIC 2; AMYLD2", "ORPHA:15": "Achondroplasia/Achondroplasia", "OMIM:100800": "ACHONDROPLASIA; ACH", "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 / ATTRV122I-related amyloidosis", "OMIM:301220": "PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR", "ORPHA:857": "Townes-Brocks syndrome / Imperforate anus-hand, foot and ear anomalies syndrome / REAR syndrome / Renal-ear-anal-radial syndrome / Sensorineural deafness with imperforate anus and hypoplastic thumbs / Sensorineural hearing loss with imperforate anus and hypoplastic thumbs / TBS / Townes syndrome", "ORPHA:858": "Congenital toxoplasmosis / Mother-to-child transmission of toxoplasmosis / Toxoplasma embryofetopathy / Toxoplasma embryopathy", "ORPHA:859": "Transcobalamin deficiency/Transcobalamin II deficiency / Inherited deficiency of transcobalamin", "OMIM:275350": "TRANSCOBALAMIN II DEFICIENCY; TCN2D", "OMIM:100070": "AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1", "ORPHA:861": "Treacher-Collins syndrome/Treacher Collins syndrome 1 / Franceschetti-Klein syndrome / Mandibulofacial dysostosis without limb anomalies", "OMIM:154500": "TREACHER COLLINS SYNDROME 1; TCS1", "OMIM:607107": "NASOPHARYNGEAL CARCINOMA", "ORPHA:86309": "DPAGT1-CDG/Congenital disorder of glycosylation, type Ij / CDG syndrome type Ij / CDG-Ij / CDG1J / Carbohydrate deficient glycoprotein syndrome type Ij / Congenital disorder of glycosylation type 1j / Congenital disorder of glycosylation type Ij / Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency", "OMIM:608093": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J", "ORPHA:867": "Familial multiple trichoepithelioma/Trichoepithelioma, multiple familial, 1", "OMIM:601606": "TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1; MFT1", "ORPHA:86788": "X-linked severe congenital neutropenia/Neutropenia, severe congenital, X-linked", "OMIM:300299": "NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX", "OMIM:168860": "PATELLA APLASIA-HYPOPLASIA; PTLAH", "ORPHA:868": "Triose phosphate-isomerase deficiency/Triosephosphate isomerase deficiency", "OMIM:615512": "TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID", "ORPHA:86812": "POMT1-related limb-girdle muscular dystrophy R11/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 / Autosomal recessive limb-girdle muscular dystrophy type 2K / LGMD type 2K / LGMD2K / Limb-girdle muscular dystrophy type 2K / Limb-girdle muscular dystrophy-intellectual disability syndrome / POMT1-related LGMD R11", "OMIM:609308": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1", "OMIM:108985": "SVEINSSON CHORIORETINAL ATROPHY; SCRA", "ORPHA:1501": "Adrenocortical carcinoma / ACC", "ORPHA:86814": "Benign adult familial myoclonic epilepsy/Epilepsy, familial adult myoclonic, 1 / ADCME / Autosomal dominant cortical myoclonus and epilepsy / BAFME / Benign adult familial myoclonus epilepsy / FAME / FCMTE / Familial adult myoclonic epilepsy / Familial cortical myoclonic tremor and epilepsy", "OMIM:601068": "EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1", "OMIM:180920": "APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG", "ORPHA:86816": "Congenital analbuminemia/Analbuminemia", "OMIM:616000": "ANALBUMINEMIA; ANALBA", "OMIM:612631": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 3; CNSHA3", "ORPHA:86818": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome/AMME complex / AMME syndrome / ATS-MR", "OMIM:300194": "AMME COMPLEX", "OMIM:209500": "ATRICHIA WITH PAPULAR LESIONS; APL", "ORPHA:86820": "Familial avascular necrosis of femoral head / Familial osteonecrosis of the femoral head", "ORPHA:86822": "Lissencephaly type 3-metacarpal bone dysplasia syndrome", "ORPHA:1505": "Short rib-polydactyly syndrome", "OMIM:607785": "JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML", "ORPHA:86839": "Refractory anemia with excess blasts / Myelodysplastic neoplasm with increased blasts / MDS with excess blasts / MDS-IB / RAEB", "ORPHA:86841": "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality/Chromosome 5q deletion syndrome / 5q- syndrome", "OMIM:153550": "CHROMOSOME 5q DELETION SYNDROME", "ORPHA:86843": "Acute panmyelosis with myelofibrosis / Acute myelodysplasia with myelofibrosis / Acute myelofibrosis", "ORPHA:1506": "Thin ribs-tubular bones-dysmorphism syndrome / Sharma-Kapoor-Ramji syndrome", "ORPHA:1507": "Autosomal recessive Robinow syndrome/Robinow syndrome, autosomal recessive / COVESDEM syndrome / Costovertebral segmentation defect-mesomelia syndrome / RRS", "OMIM:268310": "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1; RRS1", "ORPHA:86884": "Subcutaneous panniculitis-like T-cell lymphoma/T-cell lymphoma, subcutaneous panniculitis-like / SPTCL / Subcutaneous panniculitic T-cell lymphoma", "OMIM:618398": "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE; SPTCL", "ORPHA:1508": "Coxoauricular syndrome/Coxoauricular syndrome", "OMIM:122780": "COXOAURICULAR SYNDROME", "ORPHA:86893": "Nodular lymphocyte predominant Hodgkin lymphoma / NLPHL", "ORPHA:869": "Triple A syndrome/Achalasia-Addisonianism-Alacrima syndrome / 2A syndrome / 3A syndrome / 4A syndrome / AAA syndrome / Achalasia-addisonianism-alacrima syndrome / Adrenal insufficiency-achalasia-alacrima syndrome / Allgrove syndrome / Double A syndrome / Quaternary A syndrome", "OMIM:231550": "ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS", "OMIM:267730": "RETICULUM CELL SARCOMA", "ORPHA:1509": "Coxopodopatellar syndrome/Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension / SPS / Ischiopatellar dysplasia / Ischiopubicpatellar syndrome / Scott-Taor syndrome / Small patella syndrome", "OMIM:147891": "ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS", "ORPHA:86909": "Myoclonic epilepsy of infancy / Benign myoclonic epilepsy of infancy / Benign myoclonus 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 / Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome", "ORPHA:86919": "Keratosis palmaris et plantaris-clinodactyly syndrome/Keratosis palmaris et plantaris with clinodactyly / Palmoplantar keratoderma-clinodactyly syndrome", "OMIM:148520": "KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY", "OMIM:125595": "DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR", "ORPHA:86923": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type/Keratoderma, palmoplantar, norrbotten Recessive type / Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type / PPK, Gamborg-Nielsen type", "OMIM:244850": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type/Keratoderma, palmoplantar, norrbotten Recessive type", "ORPHA:87": "Apert syndrome/Apert syndrome / ACS1 / Acrocephalosyndactyly type 1", "OMIM:101200": "APERT SYNDROME", "ORPHA:1512": "Crane-Heise syndrome", "ORPHA:870": "Down syndrome/Down syndrome / Trisomy 21", "OMIM:190685": "DOWN SYNDROME", "ORPHA:871": "Familial progressive cardiac conduction defect/Progressive familial heart block, type IA / Familial Lenègre disease / Familial Lev disease / Familial Lev-Lenègre disease / Familial PCCD / Familial progressive heart block / Hereditary bundle branch defect", "OMIM:113900": "PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A", "ORPHA:873": "Desmoid tumor / Aggressive fibromatosis / Desmoid type fibromatosis", "ORPHA:87503": "Mal de Meleda/Meleda disease / Keratosis palmoplantaris transgrediens of Siemens / Transgrediens palmoplantar keratoderma of Siemens", "OMIM:248300": "MAL DE MELEDA; MDM", "ORPHA:87876": "Sialidosis type 2/Neuraminidase deficiency / Infantile dysmorphic sialidosis", "OMIM:256550": "NEURAMINIDASE DEFICIENCY", "ORPHA:1513": "Craniodiaphyseal dysplasia/Craniodiaphyseal dysplasia, autosomal dominant", "OMIM:122860": "CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD", "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 / Isolated genetic deafness / Isolated genetic hearing loss / Non-syndromic genetic hearing loss", "ORPHA:88": "Idiopathic aplastic anemia/Aplastic anemia / Idiopathic bone marrow failure", "OMIM:609135": "APLASTIC ANEMIA", "ORPHA:881": "Turner syndrome / 45,X syndrome / 45,X/46,XX 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 / FAH deficiency / Fumarylacetoacetase deficiency / Fumarylacetoacetate hydrolase deficiency / Hepatorenal tyrosinemia / Tyrosinemia type I", "OMIM:276700": "TYROSINEMIA, TYPE I; TYRSN1", "ORPHA:884": "Tetrasomy 12p/Pallister-Killian syndrome / Tetrasomy 12p syndrome / Isochromosome 12p mosaicism / Isochromosome 12p syndrome", "OMIM:601803": "PALLISTER-KILLIAN SYNDROME; PKS", "ORPHA:886": "Usher syndrome / Retinitis pigmentosa-deafness syndrome / Retinitis pigmentosa-hearing loss syndrome / USH", "ORPHA:88618": "S-adenosylhomocysteine hydrolase deficiency/Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase", "OMIM:613752": "HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY", "ORPHA:1514": "Craniodigital-intellectual disability syndrome / Scott craniodigital syndrome / Scott-Bryant-Graham syndrome", "ORPHA:88619": "Familial acute necrotizing encephalopathy/Encephalopathy, acute, infection-induced, susceptibility to, 3 / ADANE / Recurrent acute necrotizing encephalopathy", "OMIM:608033": "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3", "OMIM:107200": "ANOSMIA, ISOLATED CONGENITAL; ANIC", "ORPHA:88621": "Ichthyosis-prematurity syndrome/Ichthyosis prematurity syndrome / Congenital ichthyosis type 4 / IPS", "OMIM:608649": "ICHTHYOSIS PREMATURITY SYNDROME; IPS", "ORPHA:88628": "Posterior column ataxia-retinitis pigmentosa syndrome/Ataxia, posterior column, with retinitis pigmentosa / Autosomal recessive posterior column ataxia and retinitis pigmentosa / PCARP", "OMIM:609033": "RETINOPATHY-SENSORY NEUROPATHY SYNDROME; RETSNS", "ORPHA:88629": "Tritanopia/TRITANOPIA / Blue colour blindness / Congenital tritanopia / Tritan colour blindness", "OMIM:190900": "TRITANOPIA", "ORPHA:88630": "Terminal osseous dysplasia-pigmentary defects syndrome/Terminal osseous dysplasia", "OMIM:300244": "TERMINAL OSSEOUS DYSPLASIA; TOD", "OMIM:107250": "ANTERIOR SEGMENT DYSGENESIS 1; ASGD1", "ORPHA:88635": "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates/Myopathy, vacuolar, with CASQ1 aggregates / Myopathy due to calsequestrin and SERCA1 protein overload / Vacuolar aggregate myopathy", "OMIM:616231": "MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA", "ORPHA:88637": "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome / 4H syndrome", "ORPHA:1515": "Cranioectodermal dysplasia/Cranioectodermal dysplasia / CED / Sensenbrenner syndrome", "OMIM:218330": "CRANIOECTODERMAL DYSPLASIA 1; CED1", "ORPHA:88639": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency/3-hydroxyisobutryl-CoA hydrolase deficiency / HIBCH deficiency / Methacrylic aciduria / Valine metabolic defect", "OMIM:250620": "3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD", "OMIM:243000": "INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP", "ORPHA:88643": "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome", "ORPHA:88644": "Autosomal recessive ataxia, Beauce type/Spinocerebellar ataxia, autosomal recessive 8 / ARCA1 / Autosomal recessive cerebellar ataxia type 1 / SCAR8", "OMIM:610743": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8", "OMIM:161900": "RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; RFH1", "OMIM:605115": "HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY", "ORPHA:88673": "Hepatocellular carcinoma/Hepatocellular carcinoma / HCC", "OMIM:114550": "HEPATOCELLULAR CARCINOMA", "ORPHA:887": "VACTERL/VATER association/Vater associationvacterl association, included / VACTERL association / Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association", "OMIM:192350": "VATER/VACTERL ASSOCIATION", "ORPHA:888": "Van der Woude syndrome/van der Woude syndrome 1 / Cleft lip/palate with mucous cysts of lower lip / Lip-pit syndrome / VWS", "OMIM:119300": "VAN DER WOUDE SYNDROME 1; VWS1", "ORPHA:1516": "Non-syndromic bilambdoid and sagittal craniosynostosis/Craniofacial dyssynostosis with short stature / BLSS / Bilateral lambdoid and sagittal synostosis / Isolated sagittal and bilambdoid craniosynostosis / Non-syndromic sagittal and bilateral lambdoid synostosis", "OMIM:218350": "CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE", "ORPHA:889": "Cutaneous small vessel vasculitis / Cutaneous hypersensitivity vasculitis", "OMIM:301050": "ALPORT SYNDROME 1, X-LINKED; ATS1", "OMIM:104200": "ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; ATS3A", "OMIM:203780": "ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2", "OMIM:600273": "POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS", "OMIM:145260": "PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A", "OMIM:614491": "PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B", "OMIM:614492": "PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C", "OMIM:174000": "TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 2; ADTKD2", "OMIM:162000": "TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 1; ADTKD1", "ORPHA:1517": "Cantú syndrome/Hypertrichotic osteochondrodysplasia / Congenital hypertrichosis-acromegaloid facial features spectrum / Congenital hypertrichosis-coarse facial features spectrum", "OMIM:239850": "CANTU SYNDROME", "ORPHA:890": "Hepatic veno-occlusive disease / Sinusoidal obstruction syndrome", "ORPHA:892": "Von Hippel-Lindau disease/von Hippel-Lindau syndrome / Familial cerebelloretinal angiomatosis / VHL / Von Hippel-Lindau syndrome", "OMIM:193300": "VON HIPPEL-LINDAU SYNDROME; VHLS", "ORPHA:893": "WAGR syndrome/Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome / Del(11)(p13) / Deletion 11p13 / Monosomy 11p13 / Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome", "OMIM:194072": "WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; WAGR", "ORPHA:894": "Waardenburg syndrome type 1/Waardenburg syndrome, type 1 / WS1 / Waardenburg syndrome type I", "OMIM:193500": "WAARDENBURG SYNDROME, TYPE 1; WS1", "ORPHA:895": "Waardenburg syndrome type 2/Waardenburg syndrome, type 2A / WS2 / Waardenburg syndrome type II", "OMIM:193510": "WAARDENBURG SYNDROME, TYPE 2A; WS2A", "ORPHA:896": "Waardenburg syndrome type 3/Waardenburg syndrome, type 3 / Klein-Waardenburg syndrome / WS3 / Waardenburg syndrome type III / Waardenburg syndrome with limb anomalies", "OMIM:148820": "WAARDENBURG SYNDROME, TYPE 3; WS3", "ORPHA:1519": "SPECC1L-related hypertelorism syndrome/Teebi hypertelorism syndrome 1 / Brachycephalofrontonasal dysplasia", "OMIM:145420": "TEEBI HYPERTELORISM SYNDROME 1; TBHS1", "ORPHA:897": "Waardenburg-Shah syndrome / Shah-Waardenburg syndrome / WS4 / Waardenburg syndrome type 4 / Waardenburg-Hirschsprung syndrome", "OMIM:143200": "WAGNER VITREORETINOPATHY; WGVRP", "ORPHA:89838": "Autosomal recessive generalized epidermolysis bullosa simplex/Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive / Autosomal recessive generalized EBS", "OMIM:601001": "EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS1D", "OMIM:226650": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE; JEB1A", "ORPHA:89842": "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form / Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis / Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type / Generalized RDEB, intermediate form / RDEB, non-Hallopeau-Siemens type", "ORPHA:89843": "Dystrophic epidermolysis bullosa pruriginosa/Epidermolysis bullosa pruriginosa / DEB pruriginosa / DEB-Pr / Pruriginous dystrophic epidermolysis bullosa", "OMIM:604129": "EPIDERMOLYSIS BULLOSA PRURIGINOSA", "ORPHA:1520": "Craniofrontonasal dysplasia/Craniofrontonasal syndrome / CFND / CFNS", "OMIM:304110": "CRANIOFRONTONASAL SYNDROME; CFNS", "ORPHA:89844": "Lissencephaly syndrome, Norman-Roberts type/Lissencephaly 2 / Microlissencephaly type A", "OMIM:257320": "LISSENCEPHALY 2; LIS2", "ORPHA:899": "Walker-Warburg syndrome / HARD syndrome / Hydrocephalus-agyria-retinal dysplasia syndrome / WWS", "ORPHA:89936": "X-linked hypophosphatemia/Hypophosphatemic rickets, X-linked dominant / X-linked hypophosphatemic rickets / XLH", "OMIM:307800": "HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHRD", "ORPHA:89937": "Autosomal dominant hypophosphatemic rickets/Hypophosphatemic rickets, autosomal dominant / ADHR / Autosomal dominant hypophosphatemia", "OMIM:193100": "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR", "ORPHA:9": "Tetrasomy X / Tetrasomy X syndrome / 48,XXXX syndrome / Quadruple X / Tetra 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 / Hyperargininemia", "OMIM:207800": "ARGININEMIA", "ORPHA:900": "Granulomatosis with polyangiitis/Granulomatosis with polyangiitis / GPA", "OMIM:608710": "GRANULOMATOSIS WITH POLYANGIITIS; GPA", "ORPHA:90000": "Erythema elevatum diutinum", "OMIM:300843": "BORNHOLM EYE DISEASE; BED", "ORPHA:1521": "Craniofrontonasal dysplasia-Poland anomaly syndrome / Webster-Deming 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 / Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency / Primary immunodeficiency syndrome due to P14 deficiency / Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency", "OMIM:610798": "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 / Hearing loss with labyrinthine aplasia, microtia, and microdontia / LAMM syndrome / Microdontia-type I microtia-deafness syndrome / Microdontia-type I microtia-hearing loss syndrome", "OMIM:610706": "DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA", "ORPHA:90026": "Primary erythromelalgia/Erythermalgia, primary / Primary erythermalgia", "OMIM:133020": "ERYTHERMALGIA, PRIMARY", "OMIM:235700": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5; CNSHA5", "ORPHA:1522": "Craniometaphyseal dysplasia", "ORPHA:90033": "Autoimmune hemolytic anemia, warm type / Warm AIHA / wAHA / wAIHA", "ORPHA:90035": "Paroxysmal cold hemoglobinuria / Donath-Landsteiner hemolytic anemia / Donath-Landsteiner syndrome", "ORPHA:90036": "Mixed-type autoimmune hemolytic anemia / Mixed AIHA", "ORPHA:90037": "Drug-induced autoimmune hemolytic anemia / Drug-induced AIHA", "ORPHA:90038": "Shiga toxin-associated hemolytic uremic syndrome / D+ HUS / EHEC-HUS / Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli / Hemolytic uremic syndrome with diarrhea / STEC-HUS / Shiga-like toxin-associated HUS / Stx-HUS / Typical HUS / Typical hemolytic uremic syndrome", "ORPHA:90042": "Primary familial polycythemia/Erythrocytosis, familial, 1 / Congenital erythrocytosis due to erythropoietin receptor mutation / Congenital polycythemia due to erythropoietin receptor mutation / Familial erythrocytosis / PFCP / Primary congenital erythrocytosis / Primary familial and congenital polycythemia", "OMIM:133100": "ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1", "ORPHA:90044": "Familial pseudohyperkalemia/Pseudohyperkalemia, familial, 2, due to red cell leak", "OMIM:609153": "PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2", "ORPHA:90045": "Hereditary folate malabsorption/Folate malabsorption, hereditary / Congenital folate malabsorption", "OMIM:229050": "FOLATE MALABSORPTION, HEREDITARY", "ORPHA:90050": "Retinopathy of prematurity / ROP / Retrolental fibroplasia", "ORPHA:1525": "Cranio-osteoarthropathy / Currarino disease / Currarino idiopathic osteoarthropathy / Reginato-Schiapachasse syndrome", "ORPHA:1527": "Craniosynostosis, Philadelphia type", "ORPHA:901": "Wells syndrome / Eosinophilic cellulitis", "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 / CMT-deafness-intellectual disability syndrome / Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome / Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers / Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers", "OMIM:214370": "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS", "ORPHA:90117": "Hereditary motor and sensory neuropathy, Okinawa type/Neuropathy, hereditary motor and sensory, Okinawa type / HMSNP / Hereditary motor and sensory neuropathy, proximal type", "OMIM:604484": "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; HMSNO", "OMIM:601152": "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A", "ORPHA:90153": "Mandibuloacral dysplasia with type A lipodystrophy/Mandibuloacral dysplasia / MADA", "OMIM:248370": "MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA", "ORPHA:90154": "Mandibuloacral dysplasia with type B lipodystrophy/Mandibuloacral dysplasia with type B lipodystrophy", "OMIM:608612": "MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB", "ORPHA:90156": "Centrifugal lipodystrophy / Lipodystrophia centrifugalis abdominalis infantilis", "ORPHA:1528": "Craniotelencephalic dysplasia/Craniotelencephalic dysplasia", "OMIM:218670": "CRANIOTELENCEPHALIC DYSPLASIA", "ORPHA:90157": "Drug-induced localized lipodystrophy / Lipoatrophy caused by injected drug", "ORPHA:90158": "Idiopathic localized lipodystrophy", "ORPHA:90159": "Panniculitis-induced localized lipodystrophy", "ORPHA:90160": "Pressure-induced localized lipoatrophy / Lipoatrophia semicircularis / Semicircular lipoatrophy", "ORPHA:90186": "Meige disease/Lymphedema, hereditary, II / Hereditary lymphedema type II / Meige lymphedema", "OMIM:153200": "LYMPHATIC MALFORMATION 5; LMPHM5", "ORPHA:902": "Werner syndrome/Werner syndrome / Adult progeria / WS", "OMIM:277700": "WERNER SYNDROME; WRN", "ORPHA:90280": "Chilblain lupus", "ORPHA:1529": "Craniofacial-deafness-hand syndrome/Craniofacial-deafness-hand syndrome / CDHS / Craniofacial-hearing loss-hand syndrome / Sommer-Young-Wee-Frye syndrome", "OMIM:122880": "CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS", "ORPHA:90289": "Localized scleroderma / Localized fibrosing 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 / Systemic scleroderma", "ORPHA:903": "Von Willebrand disease / Hereditary pseudohaemophilia / Hereditary 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 WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT", "ORPHA:90308": "Klippel-Trénaunay syndrome", "ORPHA:90340": "Blau syndrome/Blau syndrome", "OMIM:186580": "BLAU SYNDROME; BLAUS", "ORPHA:90342": "Xeroderma pigmentosum variant/Xeroderma pigmentosum, Variant type / XPV", "OMIM:278750": "XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV", "ORPHA:90348": "Autosomal dominant cutis laxa / ADCL", "ORPHA:90349": "Autosomal recessive cutis laxa type 1 / ARCL1 / Autosomal recessive cutis laxa with severe systemic involvement / Autosomal recessive cutis laxa, pulmonary emphysema type", "ORPHA:90354": "Brittle cornea syndrome/Brittle cornea syndrome / Ehlers-Danlos syndrome type 6B", "OMIM:229200": "BRITTLE CORNEA SYNDROME 1; BCS1", "ORPHA:90362": "Primary intestinal lymphangiectasia/Lymphangiectasia, intestinal / Waldmann disease", "OMIM:152800": "LYMPHANGIECTASIA, INTESTINAL", "ORPHA:90363": "Secondary intestinal lymphangiectasia", "ORPHA:1532": "Gómez-López-Hernández syndrome/Gomez-Lopez-Hernandez syndrome / Cerebellotrigeminal-dermal dysplasia syndrome / Craniosynostosis-alopecia-brain defect syndrome", "OMIM:601853": "GOMEZ-LOPEZ-HERNANDEZ SYNDROME; GLHS", "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 / Deletion 7q11.23 / Monosomy 7q11.23", "OMIM:194050": "WILLIAMS-BEUREN SYNDROME; WBS", "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": "WILSON DISEASE; WND", "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 / Eczema-thrombocytopenia-immunodeficiency syndrome", "OMIM:301000": "WISKOTT-ALDRICH SYNDROME; WAS", "ORPHA:90646": "Deafness-hypogonadism syndrome / Hearing loss-hypogonadism syndrome", "ORPHA:90647": "Jervell and Lange-Nielsen syndrome/Jervell and Lange-Nielsen syndrome 1 / Long QT interval-deafness syndrome / Long QT interval-hearing loss syndrome", "OMIM:220400": "JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1", "ORPHA:1538": "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome/Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus / Braddock-Jones-Superneau syndrome", "OMIM:123155": "HYDROCEPHALUS, AUTOSOMAL DOMINANT; HDCPH1", "ORPHA:90650": "Otopalatodigital syndrome type 1/Otopalatodigital syndrome, type I / OPD I syndrome / OPD syndrome 1 / Taybi syndrome", "OMIM:311300": "OTOPALATODIGITAL SYNDROME, TYPE I; OPD1", "ORPHA:90652": "Otopalatodigital syndrome type 2/Otopalatodigital syndrome, type II / OPD II syndrome / OPD syndrome 2", "OMIM:304120": "OTOPALATODIGITAL SYNDROME, TYPE II; OPD2", "ORPHA:90653": "Stickler syndrome type 1/Stickler syndrome, type I", "OMIM:108300": "STICKLER SYNDROME, TYPE I; STL1", "ORPHA:90654": "Stickler syndrome type 2/Stickler syndrome, type II", "OMIM:604841": "STICKLER SYNDROME, TYPE II; STL2", "ORPHA:90658": "Charcot-Marie-Tooth disease type 1E/Charcot-Marie-Tooth disease and deafness / CMT1E / Charcot-Marie-Tooth disease-deafness syndrome / Charcot-Marie-Tooth disease-hearing loss syndrome", "OMIM:118300": "CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS", "ORPHA:90673": "Hypothyroidism due to TSH receptor mutations/Hypothyroidism, congenital, nongoitrous, 1", "OMIM:275200": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1", "ORPHA:90674": "Isolated thyroid-stimulating hormone deficiency/Hypothyroidism, congenital, nongoitrous, 4 / Isolated TSH deficiency / Isolated thyrotropin deficiency", "OMIM:275100": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4", "ORPHA:90695": "Non-acquired panhypopituitarism / Genetic panhypopituitarism", "ORPHA:154": "Familial isolated dilated cardiomyopathy / Familial or idiopathic dilated cardiomyopathy", "ORPHA:90790": "Congenital lipoid adrenal hyperplasia due to STAR deficency/Lipoid congenital adrenal hyperplasia / CLAH / LCAH / Lipoid CAH", "OMIM:201710": "LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH", "ORPHA:90791": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency/Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency / CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency", "OMIM:201810": "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 / CAH due to 17-alpha-hydroxylase deficiency / Combined 17-hydroxylase/17,20-lyase deficiency", "OMIM:202110": "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 / Classic 21-OHD CAH", "OMIM:201910": "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 / CAH due to 11-beta-hydroxylase deficiency / CYP11B1 deficiency", "OMIM:202010": "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY", "ORPHA:90796": "46,XY disorder of sex development due to isolated 17,20-lyase deficiency / 46,XY difference of sex development due to isolated 17,20-lyase deficiency", "ORPHA:100006": "ABeta amyloidosis, Dutch type / ABetaE22Q amyloidosis / HCHWA, Dutch type / HCHWA-D / Hereditary cerebral hemorrhage with amyloidosis, Dutch type", "ORPHA:1540": "Jackson-Weiss syndrome/Jackson-Weiss syndrome / Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome / JWS", "OMIM:123150": "JACKSON-WEISS SYNDROME; JWS", "ORPHA:90797": "Partial androgen insensitivity syndrome/Reifenstein syndrome / PAIS / Partial androgen resistance syndrome", "OMIM:312300": "ANDROGEN INSENSITIVITY, PARTIAL; PAIS", "ORPHA:908": "Fragile X syndrome / FRAXA syndrome / FXS / FraX syndrome / Martin-Bell syndrome", "ORPHA:909": "Cerebrotendinous xanthomatosis/Cerebrotendinous xanthomatosis / CTX / Sterol 27-hydroxylase deficiency", "OMIM:213700": "CEREBROTENDINOUS XANTHOMATOSIS; CTX", "ORPHA:90970": "Primary lipodystrophy", "ORPHA:91": "Aromatase deficiency/Aromatase deficiency / Congenital estrogen deficiency", "OMIM:613546": "AROMATASE DEFICIENCY", "ORPHA:910": "Xeroderma pigmentosum", "ORPHA:911": "Combined immunodeficiency due to ZAP70 deficiency/Immunodeficiency 48 / Zeta-associated-protein 70 deficiency", "OMIM:269840": "IMMUNODEFICIENCY 48; IMD48", "OMIM:604757": "CRANIOSYNOSTOSIS 2; CRS2", "ORPHA:91130": "Cardiomyopathy-hypotonia-lactic acidosis syndrome/Mitochondrial phosphate carrier deficiency", "OMIM:610773": "MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY; MPCD", "ORPHA:91131": "DK1-CDG/Congenital disorder of glycosylation, type Im / CDG syndrome type Im / CDG-Im / CDG1M / Carbohydrate deficient glycoprotein syndrome type Im / Congenital disorder of glycosylation type 1m / Congenital disorder of glycosylation type Im / Dolichol kinase deficiency / Hypotonia and ichthyosis due to dolichol phosphate deficiency", "OMIM:610768": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M", "ORPHA:91132": "Ichthyosis-hypotrichosis syndrome/Ichthyosis, congenital, autosomal recessive 11 / Hypotrichosis-congenital ichthyosis syndrome / IFAH syndrome / IHS / Ichthyosis-follicular atrophoderma-hypotrichosis syndrome / Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome", "OMIM:602400": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11", "ORPHA:91135": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency/Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency / PXE-like syndrome / Pseudoxanthoma elasticum-like syndrome", "OMIM:610842": "PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY", "ORPHA:91138": "Cryoglobulinemic vasculitis/Cryoglobulinemia, familial mixed / Essential cryoglobulinemia / Essential mixed cryoglobulinemia / Mixed cryoglobulinemia / Primary cryoglobulinemia", "OMIM:123550": "CRYOGLOBULINEMIA, FAMILIAL MIXED", "ORPHA:912": "Zellweger syndrome/Peroxisome biogenesis disorder 1A (Zellweger) / Cerebrohepatorenal syndrome / Severe PBD-ZSD / Severe peroxisome biogenesis disorder-Zellweger spectrum disorder", "OMIM:214100": "PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A", "ORPHA:913": "Zollinger-Ellison syndrome / Gastrinoma", "ORPHA:91347": "TSH-secreting pituitary adenoma / Pituitary thyrotrophic adenoma / TSH-oma / Thyroid stimulating hormone-secreting pituitary adenoma / Thyrotroph adenoma", "ORPHA:91348": "Functioning gonadotropic adenoma / Functioning pituitary gonadotropic adenoma / Gonadotroph adenoma", "ORPHA:91349": "Non-functioning pituitary adenoma / NFPA", "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 / Hypopituitarism 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 / Familial TAAD / Familial non-syndromic thoracic aortic aneurysm and aortic dissection", "OMIM:123570": "CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED; CRYPTOP", "ORPHA:1546": "Cryptococcosis", "ORPHA:91411": "Congenital ptosis/Ptosis, hereditary congenital 1", "OMIM:178300": "PTOSIS, HEREDITARY CONGENITAL 1; PTOS1", "ORPHA:91412": "Marcus-Gunn syndrome/Marcus gunn phenomenon / Jaw-winking syndrome / Mandibulo-palpebral synkinesis-ptosis syndrome / Marcus-Gunn phenomenon", "OMIM:154600": "MARCUS GUNN PHENOMENON", "OMIM:143000": "HORNER SYNDROME, CONGENITAL", "ORPHA:91414": "Pilomatrixoma/Pilomatrixoma, somatic / Epithelioma calcificans of Malherbe / Pilomatricoma", "OMIM:132600": "PILOMATRIXOMA", "ORPHA:91416": "Isolated congenital alacrima", "OMIM:180550": "RING DERMOID OF CORNEA; RDC", "OMIM:309300": "MEGALOCORNEA; MGC1", "ORPHA:1547": "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome / Cryptomicrotia-brachydactyly syndrome / Tonoki-Ohura-Niikawa syndrome", "OMIM:216800": "COLOBOMA OF MACULA AND SKELETAL ANOMALIES", "OMIM:193230": "VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD", "OMIM:136480": "FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL", "ORPHA:915": "Aarskog-Scott syndrome/Aarskog-Scott syndrome / Aarskog syndrome / Faciodigitogenital syndrome / Faciogenital dysplasia", "OMIM:305400": "AARSKOG-SCOTT SYNDROME; AAS", "ORPHA:91500": "Tubulointerstitial nephritis and uveitis syndrome / Dobrin syndrome / TINU syndrome", "ORPHA:91546": "Lyme disease / Lyme borreliosis", "ORPHA:91547": "Relapsing fever", "ORPHA:916": "Aase-Smith syndrome/Aase-Smith syndrome I / Aase-Smith I syndrome / Hydrocephalus-cleft palate-joint contractures syndrome", "OMIM:147800": "AASE-SMITH SYNDROME I", "ORPHA:1548": "Cryptorchidism-arachnodactyly-intellectual disability syndrome / Van Benthem-Driessen-Hanveld syndrome", "ORPHA:92": "Juvenile idiopathic arthritis / Juvenile chronic arthritis / Juvenile rheumatoid arthritis", "ORPHA:920": "Ablepharon macrostomia syndrome/Ablepharon-Macrostomia syndrome", "OMIM:200110": "ABLEPHARON-MACROSTOMIA SYNDROME; AMS", "ORPHA:92050": "Congenital tufting enteropathy/Diarrhea 5, with tufting enteropathy, congenital / IED / Intestinal epithelial dysplasia / Non-syndromic congenital tufting enteropathy", "OMIM:613217": "DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5", "ORPHA:921": "Abruzzo-Erickson syndrome/Charge-Like syndrome, X-linked / CHARGE-like syndrome / Cleft palate-coloboma-deafness syndrome / Cleft palate-coloboma-hearing loss syndrome", "OMIM:302905": "ABRUZZO-ERICKSON SYNDROME; ABERS", "ORPHA:922": "Familial nasal acilia", "ORPHA:926": "Acatalasemia/Acatalasemia / Catalase deficiency", "OMIM:614097": "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 / NAGS deficiency", "OMIM:237310": "N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD", "ORPHA:929": "Achalasia-microcephaly syndrome/Achalasia-Microcephaly syndrome", "OMIM:200450": "ACHALASIA-MICROCEPHALY SYNDROME", "ORPHA:93": "Aspartylglucosaminuria/Aspartylglucosaminuria / Aspartylglucosaminidase deficiency", "OMIM:208400": "ASPARTYLGLUCOSAMINURIA; AGU", "ORPHA:931": "Acheiropodia/Acheiropody acheiropodia acheiropody, Brazilian type / Isolated acheiropodia / Isolated acheiropody", "OMIM:200500": "ACHEIROPODY; ACHP", "ORPHA:93109": "Congenital megacalycosis", "ORPHA:93110": "Posterior urethral valve / PUV", "ORPHA:93111": "HNF1B-related autosomal dominant tubulointerstitial kidney disease/Renal cysts and diabetes syndrome / ADTKD-HNF1B / HNF1B-MODY / HNF1B-related nephropathy / MODY5 / Maturity-onset diabetes of the young type 5 / RCAD syndrome / Renal dysfunction-early-onset diabetes syndrome", "OMIM:137920": "RENAL CYSTS AND DIABETES SYNDROME; RCAD", "OMIM:614455": "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE", "ORPHA:93160": "Hypocalcemic vitamin D-resistant rickets/Rickets, vitamin D-resistant, type IIA / HVDRR / Hereditary vitamin D-resistant rickets / VDDR II / VDRR II / Vitamin D-dependent rickets type II / Vitamin D-resistant rickets type II", "OMIM:277440": "VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A", "ORPHA:1551": "Familial benign copper deficiency/Copper deficiency, familial benign / Familial benign hypocupremia", "OMIM:121270": "COPPER DEFICIENCY, FAMILIAL BENIGN", "ORPHA:932": "Achondrogenesis", "ORPHA:1552": "Currarino syndrome/Currarino syndrome / Currarino triad", "OMIM:176450": "CURRARINO SYNDROME", "ORPHA:93256": "Fragile X-associated tremor/ataxia syndrome/Fragile X tremor/ataxia syndrome / FXTAS syndrome", "OMIM:300623": "FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS", "ORPHA:93258": "Pfeiffer syndrome type 1 / Classic Pfeiffer syndrome", "ORPHA:93259": "Pfeiffer syndrome type 2", "ORPHA:100984": "Autosomal dominant spastic paraplegia type 3/Spastic paraplegia 3, autosomal dominant / Autosomal dominant spastic paraplegia type 3A / SPG3A / Strümpell disease", "OMIM:182600": "SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A", "ORPHA:1553": "Curry-Jones syndrome/Curry-Jones syndrome / Corpus callosum agenesis-polysyndactyly syndrome", "OMIM:601707": "CURRY-JONES SYNDROME; CRJS", "ORPHA:93260": "Pfeiffer syndrome type 3", "ORPHA:93262": "Crouzon syndrome-acanthosis nigricans syndrome/Crouzon syndrome with acanthosis nigricans / Crouzon-dermoskeletal syndrome", "OMIM:612247": "CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN", "ORPHA:93267": "Cloverleaf skull-multiple congenital anomalies syndrome", "OMIM:269860": "SHORT-RIB THORACIC DYSPLASIA 12; SRTD12", "ORPHA:93271": "Short rib-polydactyly syndrome, Verma-Naumoff type / Short rib-polydactyly syndrome type 3", "ORPHA:93274": "Thanatophoric dysplasia type 2/Thanatophoric dysplasia, type II / Cloverleaf skull-micromelic bone dysplasia syndrome / TD2 / Thanatophoric dwarfism type 2 / Thanatophoric dwarfism-cloverleaf skull syndrome", "OMIM:187601": "THANATOPHORIC DYSPLASIA, TYPE II; TD2", "ORPHA:1555": "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome/Beare-Stevenson cutis gyrata syndrome", "OMIM:123790": "BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS", "OMIM:604864": "OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; OSCDP", "ORPHA:93283": "Spondyloepiphyseal dysplasia, Kimberley type/Spondyloepiphyseal dysplasia, Kimberley type", "OMIM:608361": "SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; SEDK", "ORPHA:93284": "Spondyloepiphyseal dysplasia tarda", "OMIM:607323": "DUANE-RADIAL RAY SYNDROME; DRRS", "ORPHA:93296": "Achondrogenesis type 2/Achondrogenesis, type II / Achondrogenesis, Langer-Saldino type", "OMIM:200610": "ACHONDROGENESIS, TYPE II; ACG2", "ORPHA:93298": "Achondrogenesis type 1B/Achondrogenesis, type IB / Achondrogenesis, Parenti-Fraccaro type", "OMIM:600972": "ACHONDROGENESIS, TYPE IB; ACG1B", "ORPHA:93299": "Achondrogenesis type 1A/Achondrogenesis, type IA / Achondrogenesis, Houston-Harris type", "OMIM:200600": "ACHONDROGENESIS, TYPE IA; ACG1A", "ORPHA:1556": "Cutis marmorata telangiectatica congenita/Cutis marmorata telangiectatica congenita / CMTC", "OMIM:219250": "CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC", "ORPHA:93302": "Brachyolmia, Maroteaux type/Brachyolmia type 2", "OMIM:613678": "BRACHYOLMIA TYPE 2; BCYM2", "ORPHA:93304": "Autosomal dominant brachyolmia/Brachyolmia type 3", "OMIM:113500": "BRACHYOLMIA TYPE 3; BCYM3", "ORPHA:93307": "Multiple epiphyseal dysplasia type 4/Epiphyseal dysplasia, multiple, 4 / Autosomal recessive multiple epiphyseal dysplasia / EDM4 / MED4 / Polyepiphyseal dysplasia type 4 / rMED", "OMIM:226900": "EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4", "ORPHA:93308": "Multiple epiphyseal dysplasia type 1/Epiphyseal dysplasia, multiple, 1 / EDM1 / MED1 / Polyepiphyseal dysplasia type 1", "OMIM:132400": "EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1", "ORPHA:93311": "Multiple epiphyseal dysplasia type 5/Epiphyseal dysplasia, multiple, 5 / BHMED / Bilateral hereditary micro-epiphyseal dysplasia / EDM5 / MED5 / Polyepiphyseal dysplasia type 5", "OMIM:607078": "EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5", "ORPHA:93314": "Spondylometaphyseal dysplasia, Kozlowski type/Spondylometaphyseal dysplasia, Kozlowski type", "OMIM:184252": "SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK", "ORPHA:93315": "Spondylometaphyseal dysplasia, 'corner fracture' type/Spondylometaphyseal dysplasia, corner Fracture type / Spondylometaphyseal dysplasia, Sutcliffe type", "OMIM:184255": "SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF", "ORPHA:93316": "Spondylometaphyseal dysplasia, Schmidt type/Spondylometaphyseal dysplasia, Algerian type / Spondylometaphyseal dysplasia with severe genu valgum", "OMIM:184253": "SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE; SMDALG", "ORPHA:93317": "Spondylometaphyseal dysplasia, Sedaghatian type/Spondylometaphyseal dysplasia, Sedaghatian type", "OMIM:250220": "SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS", "ORPHA:93320": "Ulnar hemimelia / Isolated ulnar hemimelia / Isolated congenital longitudinal deficiency of the ulna / Isolated ulnar clubhand / Isolated ulnar deficiency of forearm / Isolated ulnar longitudinal meromelia", "ORPHA:93321": "Radial hemimelia / Isolated radial hemimelia / Isolated congenital longitudinal deficiency of the radius / Isolated radial club hand / Isolated radial longitidinal meromelia / Isolated radial ray agenesis", "ORPHA:93322": "Tibial hemimelia/Tibial hemimelia / Isolated tibial hemimelia / Isolated congenital absence of tibia / Isolated congenital aplasia and dysplasia of the tibia with intact fibula / Isolated congenital longitudinal deficiency of the tibia / Isolated tibial longitudinal meromelia", "OMIM:275220": "TIBIAL HEMIMELIA", "ORPHA:93323": "Fibular hemimelia / Isolated fibular hemimelia / Isolated congenital longitudinal deficiency of the fibula / Isolated fibular deficiency / Isolated fibular longitudinal meromelia", "ORPHA:93324": "Autosomal recessive Kenny-Caffey syndrome/Kenny-caffey syndrome, type 1", "OMIM:244460": "KENNY-CAFFEY SYNDROME, TYPE 1; KCS1", "ORPHA:93325": "Autosomal dominant Kenny-Caffey syndrome/Kenny-caffey syndrome, type 2", "OMIM:127000": "KENNY-CAFFEY SYNDROME, TYPE 2; KCS2", "ORPHA:93328": "Autosomal dominant omodysplasia/Omodysplasia 2", "OMIM:164745": "OMODYSPLASIA 2; OMOD2", "ORPHA:93329": "Autosomal recessive omodysplasia/Omodysplasia 1 / Micromelic dysplasia-dislocation of radius syndrome", "OMIM:258315": "OMODYSPLASIA 1; OMOD1", "ORPHA:93333": "Pelviscapular dysplasia/Cousin syndrome / Familial pelvis-scapular dysplasia", "OMIM:260660": "COUSIN SYNDROME", "OMIM:174600": "POLYDACTYLY, PREAXIAL III; PPD3", "OMIM:174700": "POLYDACTYLY, PREAXIAL IV; PPD4", "OMIM:174400": "POLYDACTYLY, PREAXIAL I; PPD1", "ORPHA:93346": "Spondyloepimetaphyseal dysplasia congenita, Strudwick type/Spondyloepimetaphyseal dysplasia, Strudwick type", "OMIM:184250": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK", "OMIM:300106": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX", "ORPHA:93351": "Spondyloepimetaphyseal dysplasia, Irapa type/Spondyloepimetaphyseal dysplasia, Irapa type / SEMD, Irapa type", "OMIM:271650": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT", "ORPHA:93352": "Spondyloepimetaphyseal dysplasia, Shohat type/Spondyloepimetaphyseal dysplasia, Shohat type / SEMD, Shohat type", "OMIM:602557": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE; SEMDSH", "ORPHA:93356": "Spondyloepimetaphyseal dysplasia, Missouri type/Spondyloepimetaphyseal dysplasia, Missouri type / SEMD type 2 / SEMD, Missouri type / Spondyloepimetaphyseal dysplasia type 2", "OMIM:602111": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE; SEMDM", "ORPHA:93357": "SPONASTRIME dysplasia/Spondyloepimetaphyseal dysplasia, sponastrime type / Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia / Spondyloepimetaphyseal dysplasia, Sponastrime type", "OMIM:271510": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE; SEMDSP", "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 / OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity", "OMIM:271640": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1", "ORPHA:93360": "Spondyloepimetaphyseal dysplasia with multiple dislocations/Spondyloepimetaphyseal dysplasia with joint laxity, type 2 / Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type / SEMD-MD / SEMDJL2 / Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type / Spondyloepimetaphyseal dysplasia with joint laxity type 2 / Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type", "OMIM:603546": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2; SEMDJL2", "OMIM:145980": "HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1", "OMIM:112910": "OSEBOLD-REMONDINI SYNDROME", "ORPHA:93383": "Brachydactyly type B/Brachydactyly, type B1", "OMIM:113000": "BRACHYDACTYLY, TYPE B1; BDB1", "ORPHA:93384": "Brachydactyly type C/Brachydactyly, type C", "OMIM:113100": "BRACHYDACTYLY, TYPE C; BDC", "ORPHA:93387": "Brachydactyly type E/Brachydactyly, type E", "OMIM:113300": "BRACHYDACTYLY, TYPE E1; BDE1", "ORPHA:93388": "Brachydactyly type A1/Brachydactyly, type A1 / Brachydactyly, Farabee type", "OMIM:112500": "BRACHYDACTYLY, TYPE A1; BDA1", "ORPHA:93394": "Brachydactyly type A4/Brachydactyly, type A4 / Brachydactyly, Temtamy type / Brachymesophalangy II and V", "OMIM:112800": "BRACHYDACTYLY, TYPE A4; BDA4", "ORPHA:93396": "Brachydactyly type A2/Brachydactyly, type A2 / Brachydactyly, Mohr-Wriedt type", "OMIM:112600": "BRACHYDACTYLY, TYPE A2; BDA2", "ORPHA:93397": "Brachydactyly type A7 / Brachydactyly, Smorgasbord type", "ORPHA:93402": "Syndactyly type 1/Chromosome 2q35 duplication syndrome", "OMIM:185900": "CHROMOSOME 2q35 DUPLICATION SYNDROME", "ORPHA:93403": "Syndactyly type 2 / Synpolydactyly", "ORPHA:93404": "Syndactyly type 3/Syndactyly, type III / SD3 / Syndactyly of fingers 4 and 5", "OMIM:186100": "SYNDACTYLY, TYPE III; SDTY3", "ORPHA:93405": "Syndactyly type 4/Syndactyly, type IV / Polysyndactyly, Haas type", "OMIM:186200": "SYNDACTYLY, TYPE IV; SDTY4", "ORPHA:93406": "Syndactyly type 5/Syndactyly, type V / Postaxial syndactyly with metacarpal synostosis / SD5", "OMIM:186300": "SYNDACTYLY, TYPE V; SDTY5", "ORPHA:93409": "Brachydactyly-syndactyly, Zhao type/Brachydactyly-Syndactyly syndrome", "OMIM:610713": "BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD", "ORPHA:93430": "Multiple metaphyseal dysplasia", "ORPHA:100985": "Autosomal dominant spastic paraplegia type 4/Spastic paraplegia 4, autosomal dominant / SPG4", "OMIM:182601": "SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4", "ORPHA:93473": "Hurler syndrome/Hurler syndrome / Hurler disease / MPS1H / MPSIH / Mucopolysaccharidosis type 1H / Mucopolysaccharidosis type IH", "OMIM:607014": "HURLER SYNDROME", "ORPHA:93474": "Scheie syndrome/Scheie syndrome / MPS1S / MPSIS / Mucopolysaccharidosis type 1S / Mucopolysaccharidosis type IS", "OMIM:607016": "SCHEIE SYNDROME", "ORPHA:93476": "Hurler-Scheie syndrome/Hurler-Scheie syndrome / MPS1H/S / MPSIH/S / Mucopolysaccharidosis type 1H/S / Mucopolysaccharidosis type IH/S", "OMIM:607015": "HURLER-SCHEIE SYNDROME", "ORPHA:935": "Short-limb skeletal dysplasia with severe combined immunodeficiency/Achondroplasia, so-called, and severe combined immunodeficiency / Achondroplasia-SCID syndrome / Achondroplasia-Swiss type agammaglobulinemia syndrome / Achondroplasia-severe combined immunodeficiency syndrome / Immunodeficiency-short limb dwarfism syndrome / Short limb skeletal dysplasia with SCID", "OMIM:200900": "SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY", "ORPHA:93552": "Pediatric systemic lupus erythematosus / SLE, pediatric onset", "ORPHA:156": "Carnitine palmitoyl transferase 1A deficiency/Carnitine palmitoyltransferase I deficiency / CPT1A deficiency / Carnitine palmitoyl transferase IA deficiency / Hepatic carnitine palmitoyl transferase 1 deficiency / Hepatic carnitine palmitoyl transferase I deficiency / L-CPT1 deficiency / L-CPTI deficiency", "OMIM:255120": "CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY", "OMIM:274150": "THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY; TTP", "ORPHA:93598": "Primary hyperoxaluria type 1/Hyperoxaluria, primary, type I / Glycolic aciduria / Peroxisomal alanine-glyoxylate aminotransferase deficiency", "OMIM:259900": "HYPEROXALURIA, PRIMARY, TYPE I; HP1", "ORPHA:93599": "Primary hyperoxaluria type 2/Hyperoxaluria, primary, type II / D-glycerate dehydrogenase deficiency / L-glyceric aciduria", "OMIM:260000": "HYPEROXALURIA, PRIMARY, TYPE II; HP2", "ORPHA:93600": "Primary hyperoxaluria type 3/Hyperoxaluria, primary, type III", "OMIM:613616": "HYPEROXALURIA, PRIMARY, TYPE III; HP3", "OMIM:278300": "XANTHINURIA, TYPE I; XAN1", "OMIM:603592": "XANTHINURIA, TYPE II; XAN2", "OMIM:601678": "BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1", "OMIM:607364": "BARTTER SYNDROME, TYPE 3; BARTS3", "OMIM:300539": "NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD", "OMIM:604278": "PROXIMAL RENAL TUBULAR ACIDOSIS-OCULAR ANOMALY SYNDROME; PRTAO", "OMIM:179800": "RENAL TUBULAR ACIDOSIS, DISTAL, 1; DRTA1", "OMIM:611590": "RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA; DRTA4", "OMIM:613978": "HEMOGLOBIN H DISEASE; HBH", "OMIM:300009": "DENT DISEASE 1; DENT1", "OMIM:300555": "DENT DISEASE 2; DENT2", "ORPHA:93672": "Juvenile dermatomyositis / Juvenile DM", "ORPHA:939": "3-hydroxyisobutyric aciduria/3-hydroxyisobutyric aciduria", "OMIM:236795": "3-HYDROXYISOBUTYRIC ACIDURIA", "OMIM:162091": "SCHWANNOMATOSIS 1; SWN1", "ORPHA:93928": "Isolated epispadias", "ORPHA:93929": "Cloacal exstrophy/OEIS complex / Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome", "OMIM:258040": "OEIS COMPLEX", "ORPHA:93930": "Bladder exstrophy / Classic exstrophy of the bladder", "ORPHA:93932": "FG syndrome type 1/Opitz-Kaveggia syndrome", "OMIM:305450": "OPITZ-KAVEGGIA SYNDROME; OKS", "ORPHA:93941": "Laryngotracheoesophageal cleft type 4 / LTEC IV / LTEC4 / Laryngo-tracheo-esophageal 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 / MRXSH", "OMIM:300423": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH", "ORPHA:93958": "Oromandibular dystonia", "ORPHA:94058": "Neovascular glaucoma", "ORPHA:94063": "12q14 microdeletion syndrome / Del(12)(q14) / Deletion 12q14 / Monosomy 12q14 / Osteopoikilosis-short stature-intellectual disability syndrome", "ORPHA:100986": "Autosomal recessive spastic paraplegia type 5A/Spastic paraplegia 5A, autosomal recessive / SPG5A", "OMIM:270800": "SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A", "ORPHA:94064": "Deafness-infertility syndrome/Deafness, sensorineural, and male infertility / DIS / Hearing loss-infertility syndrome", "OMIM:611102": "DEAFNESS-INFERTILITY SYNDROME; DIS", "ORPHA:94065": "15q24 microdeletion syndrome / Del(15)(q24) / Monosomy 15q24", "ORPHA:94066": "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia", "ORPHA:94068": "Spondyloepiphyseal dysplasia congenita/Spondyloepiphyseal dysplasia congenita / Congenital spondyloepiphyseal dysplasia / SEDC / Spranger-Wiedemann disease", "OMIM:183900": "SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC", "ORPHA:94080": "Non-functioning paraganglioma / Non-secreting paraganglioma", "ORPHA:94083": "Partington syndrome/Partington syndrome / Partington-Mulley syndrome / X-linked intellectual disability-dystonia-dysarthria syndrome", "OMIM:309510": "PARTINGTON SYNDROME; PRTS", "ORPHA:94086": "Blue diaper syndrome/Blue diaper syndrome / Drummond syndrome / Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome", "OMIM:211000": "BLUE DIAPER SYNDROME", "ORPHA:94088": "Hereditary renal hypouricemia/Hypouricemia, renal, 1 / Familial renal hypouricemia", "OMIM:220150": "HYPOURICEMIA, RENAL, 1; RHUC1", "ORPHA:94089": "Pseudohypoparathyroidism type 1B/Pseudohypoparathyroidism, type IB", "OMIM:603233": "PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B", "ORPHA:94090": "Pseudohypoparathyroidism type 2/Pseudohypoparathyroidism, type II", "OMIM:203330": "PSEUDOHYPOPARATHYROIDISM, TYPE II; PHP2", "ORPHA:94093": "Neuroleptic malignant syndrome", "OMIM:271520": "SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES", "ORPHA:941": "D-glyceric aciduria/D-glyceric aciduria / D-glycerate kinase deficiency / D-glyceric acidemia", "OMIM:220120": "D-GLYCERIC ACIDURIA", "ORPHA:94122": "Cerebellar ataxia, Cayman type/Cerebellar ataxia, Cayman type / Cayman ataxia", "OMIM:601238": "CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY", "ORPHA:94124": "Spinocerebellar ataxia with axonal neuropathy type 1/Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 / SCAN1", "OMIM:607250": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1; SCAN1", "ORPHA:94125": "Recessive mitochondrial ataxia syndrome / MIRAS", "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 / Ataxia with pigmentary retinopathy / Cerebellar syndrome-pigmentary maculopathy syndrome / SCA7", "OMIM:164500": "SPINOCEREBELLAR ATAXIA 7; SCA7", "OMIM:206800": "NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; NDNC4", "OMIM:248360": "MALONYL-CoA DECARBOXYLASE DEFICIENCY", "ORPHA:945": "Acalvaria / Primary acalvaria", "ORPHA:949": "Acrocraniofacial dysostosis / Kaplan-Plauchu-Fitch syndrome", "ORPHA:95": "Friedreich ataxia/Friedreich ataxia 1 / FA / FRDA", "OMIM:229300": "FRIEDREICH ATAXIA; FRDA", "ORPHA:950": "Acrodysostosis / Acrodysostosis with or without multiple hormonal resistance / Acrodysplasia / Arkless-Graham syndrome / Maroteaux-Malamut syndrome", "ORPHA:95159": "Hepatoerythropoietic porphyria / HEP", "ORPHA:952": "Acrofacial dysostosis, Weyers type/Weyers acrofacial dysostosis / Curry-Hall syndrome / Weyers acrodental dysostosis", "OMIM:193530": "WEYERS ACROFACIAL DYSOSTOSIS; WAD", "ORPHA:95232": "Lissencephaly due to LIS1 mutation/Lissencephaly 1 / PAFAH1B1-related lissencephaly", "OMIM:607432": "LISSENCEPHALY 1; LIS1", "ORPHA:95409": "Acute adrenal insufficiency / Acute adrenal failure / Acute adrenocortical insufficiency / Addisonian crisis / Adrenal crisis / Adrenocortical crisis", "ORPHA:95427": "Secondary short bowel syndrome", "ORPHA:95428": "COG8-CDG/Congenital disorder of glycosylation, type IIh / CDG syndrome type IIh / CDG-IIh / CDG2H / Carbohydrate deficient glycoprotein syndrome type IIh / Congenital disorder of glycosylation type 2h / Congenital disorder of glycosylation type IIh", "OMIM:611182": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H", "ORPHA:95429": "Angioma serpiginosum", "ORPHA:95433": "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome/Spinocerebellar ataxia, autosomal recessive 3 / Autosomal recessive spinocerebellar ataxia type 3 / Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome / SCABD / SCAR3", "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 / SCAR4 / SCASI", "OMIM:607317": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4", "ORPHA:95455": "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum / Epidermal necrolysis / SJS-TEN", "ORPHA:95459": "Congenital tricuspid stenosis", "ORPHA:95494": "Combined pituitary hormone deficiencies, genetic forms/Pituitary hormone deficiency, combined, 1 / Familial congenital hypopituitarism / Multiple pituitary hormone deficiencies, genetic forms", "OMIM:613038": "PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1; CPHD1", "ORPHA:95496": "Pituitary stalk interruption syndrome / Ectopic neurohypophysis / PSIS", "ORPHA:955": "Hajdu-Cheney syndrome/Hajdu-Cheney syndrome / Acroosteolysis dominant type / Acroosteolysis with osteoporosis and changes in skull and mandible / Arthrodentoosteodysplasia", "OMIM:102500": "HAJDU-CHENEY SYNDROME; HJCYS", "CCRD:10": "自身免疫性垂体炎/Autoimmune hypophysitis; AH", "ORPHA:95512": "Adenohypophysitis / Anterior pituitary hypophysitis", "ORPHA:95513": "Panhypophysitis / Infundibulo-panhypophysitis", "ORPHA:95613": "Pituitary apoplexy / Pituitary tumor apoplexy", "ORPHA:95619": "Post-traumatic pituitary deficiency", "ORPHA:95626": "Acquired central diabetes insipidus / Acquired arginine vasopressin deficiency / Acquired CDI / Acquired neurogenic diabetes insipidus", "ORPHA:95699": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency/Disordered steroidogenesis due to cytochrome P450 oxidoreductase / Congenital adrenal hyperplasia due to cytochrome POR deficiency / PORD", "OMIM:613571": "DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY", "ORPHA:957": "Acropectorovertebral dysplasia/ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF / F syndrome", "OMIM:102510": "ACROPECTOROVERTEBRAL DYSPLASIA; ACRPV", "OMIM:202150": "ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE", "OMIM:300200": "ADRENAL HYPOPLASIA, CONGENITAL; AHC", "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 / Thyroid dyshormonogenesis", "OMIM:274400": "THYROID DYSHORMONOGENESIS 1; TDH1", "ORPHA:95717": "Idiopathic congenital hypothyroidism", "ORPHA:95719": "Thyroid hemiagenesis", "ORPHA:100988": "Autosomal dominant spastic paraplegia type 6/Spastic paraplegia 6, autosomal dominant / SPG6", "OMIM:600363": "SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6", "ORPHA:95720": "Thyroid hypoplasia", "ORPHA:958": "Acro-renal-mandibular syndrome/Acrorenal-Mandibular syndrome / Split hand/split foot-mandibular hypoplasia syndrome", "OMIM:200980": "ACRORENAL-MANDIBULAR SYNDROME", "ORPHA:959": "Acro-renal-ocular syndrome", "ORPHA:96": "Ataxia with vitamin E deficiency/Ataxia with isolated vitamin E deficiency / AVED / Familial isolated vitamin E deficiency / Friedreich-like ataxia / Isolated vitamin E deficiency", "OMIM:277460": "ATAXIA WITH VITAMIN E DEFICIENCY; AVED", "ORPHA:96061": "Mosaic trisomy 8 / Mosaic trisomy 8 syndrome / Mosaic trisomy chromosome 8 / Trisomy 8 mosaicism / Warkany syndrome", "ORPHA:1562": "Dacryocystitis-osteopoikilosis syndrome/Osteopoikilosis and dacryocystitis / OBSOLETE: Dacryocystitis-osteopoikilosis syndrome / OBSOLETE: Gunal-Seber-Basaran syndrome", "OMIM:166705": "OSTEOPOIKILOSIS AND DACRYOCYSTITIS", "OMIM:613458": "CHROMOSOME 16p13.3 DUPLICATION SYNDROME", "ORPHA:96092": "8p inverted duplication/deletion syndrome / Invdupdel(8p) / Inverted 8p duplication/deletion syndrome", "ORPHA:96097": "Distal trisomy 5q / Distal duplication 5q syndrome / Telomeric duplication 5q / Trisomy 5qter", "ORPHA:96121": "7q11.23 microduplication syndrome/Williams-Beuren region duplication syndrome / Dup(7)(q11.23) / Trisomy 7q11.23", "OMIM:609757": "WILLIAMS-BEUREN REGION DUPLICATION SYNDROME", "ORPHA:96123": "Monosomy 22 / Monosomy 22 syndrome / Del(22) / Deletion 22", "ORPHA:96125": "Distal monosomy 6p/Chromosome 6pter-p24 deletion syndrome / Distal deletion 6p syndrome / 6p subtelomeric deletion syndrome / 6p25 microdeletion syndrome / Distal deletion 6p25 / Monosomy 6p25 / Monosomy 6pter", "OMIM:612582": "CHROMOSOME 6pter-p24 DELETION SYNDROME", "ORPHA:96129": "Distal monosomy 19p13.3 / Distal deletion 19p syndrome / Distal deletion 19p13.3 / Telomeric deletion 19p", "ORPHA:96147": "Kleefstra syndrome due to 9q34 microdeletion / 9q subtelomeric deletion syndrome / 9qSTDS / Kleefstra syndrome due to 9q subtelomeric deletion / Kleefstra syndrome due to del(9)(q34) / Kleefstra syndrome due to monosomy 9q34", "ORPHA:96148": "Distal monosomy 10q/Chromosome 10q26 deletion syndrome / Distal deletion 10q syndrome / Deletion 10qter / Monosomy 10qter / Telomeric deletion 10q", "OMIM:609625": "CHROMOSOME 10q26 DELETION SYNDROME", "ORPHA:96149": "Distal monosomy 12q / Distal deletion 12q syndrome / Monosomy 12qter / Telomeric deletion 12q", "ORPHA:96167": "Recombinant 8 syndrome/Recombinant chromosome 8 syndrome / Duplication 8q/deletion 8p / Rec(8) syndrome / Rec8 syndrome / San Luis Valley syndrome", "OMIM:179613": "RECOMBINANT CHROMOSOME 8 SYNDROME", "ORPHA:96168": "Monosomy 13q34 / Monosomy 13q34 syndrome / Del(13)(q34) / Distal deletion 13q34 / Subtelomeric deletion 13q34", "ORPHA:96170": "Emanuel syndrome/Emanuel syndrome / Der(22)t(11;22) syndrome / Supernumerary der(22) syndrome", "OMIM:609029": "EMANUEL SYNDROME", "ORPHA:96176": "Ring chromosome 13 syndrome / Ring 13", "ORPHA:96179": "Maternal uniparental disomy of chromosome 2 / Maternal uniparental disomy of chromosome 2 syndrome / UPD(2)mat", "ORPHA:96180": "Maternal uniparental disomy of chromosome 4 / Maternal uniparental disomy of chromosome 4 syndrome / UPD(4)mat", "ORPHA:96181": "Maternal uniparental disomy of chromosome 6 / Maternal uniparental disomy of chromosome 6 syndrome / UPD(6)mat", "ORPHA:96183": "Maternal uniparental disomy of chromosome 9 / Maternal uniparental disomy of chromosome 9 syndrome / UPD(9)mat", "OMIM:617352": "MULCHANDANI-BHOJ-CONLIN SYNDROME; MBCS", "ORPHA:96190": "Paternal uniparental disomy of chromosome 5 / Paternal uniparental disomy of chromosome 5 syndrome / UPD(5)pat", "ORPHA:96191": "Paternal uniparental disomy of chromosome 6 / Paternal uniparental disomy of chromosome 6 syndrome / UPD(6)pat", "ORPHA:96201": "X small rings / X small rings syndrome", "ORPHA:96253": "Cushing disease/Pituitary adenoma 4, ACTH-secreting, somatic / Corticotroph pituitary adenoma / Pituitary corticotroph micro-adenoma / Pituitary-dependent Cushing syndrome", "OMIM:219090": "PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4", "OMIM:102200": "PITUITARY ADENOMA 1, MULTIPLE TYPES; PITA1", "ORPHA:96263": "48,XXXY syndrome", "ORPHA:96264": "49,XXXXY syndrome", "ORPHA:963": "Acromegaly", "ORPHA:96369": "Early-onset schizophrenia / OBSOLETE: Early-onset schizophrenia", "OMIM:102150": "ACROMEGALOID FACIAL APPEARANCE SYNDROME", "ORPHA:968": "Acromesomelic dysplasia, Hunter-Thompson type/Acromesomelic dysplasia, Hunter-Thompson type / Acromesomelic dwarfism", "OMIM:201250": "ACROMESOMELIC DYSPLASIA 2C; AMD2C", "ORPHA:969": "Acromicric dysplasia/Acromicric dysplasia", "OMIM:102370": "ACROMICRIC DYSPLASIA; ACMICD", "ORPHA:97": "Familial paroxysmal ataxia/Episodic ataxia, type 2 / Episodic ataxia type 2", "OMIM:108500": "EPISODIC ATAXIA, TYPE 2; EA2", "ORPHA:970": "Hereditary sensory and autonomic neuropathy type 2 / Autosomal recessive sensory radicular neuropathy / HSAN2 / Hereditary sensory and autonomic neuropathy type II / Neurogenic acroosteolysis", "ORPHA:971": "Acrorenal syndrome/Acrorenal syndrome", "OMIM:102520": "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 / SPG8", "OMIM:603563": "SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8", "ORPHA:97229": "Riboflavin transporter deficiency / Brown-Vialetto-van Laere syndrome", "ORPHA:97230": "Solar urticaria", "OMIM:305550": "FINGERPRINT BODY MYOPATHY", "OMIM:261670": "GLYCOGEN STORAGE DISEASE X; GSD10", "OMIM:606072": "RIPPLING MUSCLE DISEASE 2; RMD2", "ORPHA:97240": "Zebra body myopathy", "ORPHA:97244": "Rigid spine syndrome / Rigid spine congenital muscular dystrophy", "OMIM:608027": "PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3", "ORPHA:97261": "GRFoma / GRF tumor / Growth hormone releasing factor tumor", "ORPHA:97278": "PPoma / Pancreatic polypeptidoma", "ORPHA:97279": "Insulinoma", "ORPHA:97280": "Glucagonoma / Glucagonoma syndrome", "ORPHA:97282": "VIPoma / Diarrheogenic islet cell tumor / Pancreatic cholera / VIP-secreting tumor / Verner-Morrison syndrome / WDHA syndrome / Watery diarrhea-hypokalemia-achlorhydria syndrome", "ORPHA:97283": "Somatostatinoma", "ORPHA:97285": "Thyroid lymphoma", "ORPHA:97286": "Carney-Stratakis syndrome/Carney-Stratakis syndrome / Carney dyad / Carney-Stratakis dyad / GIST-paraganglioma dyad / Paraganglioma and gastric stromal sarcoma", "OMIM:606864": "PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA", "ORPHA:97287": "Bronchial neuroendocrine tumor / Bronchial NET", "ORPHA:97289": "Thymic neuroendocrine tumor", "ORPHA:97290": "Familial papillary thyroid carcinoma with renal papillary neoplasia / PTC-RCC", "ORPHA:97297": "Bohring-Opitz syndrome/Bohring-Opitz syndrome / BOS syndrome / Bohring syndrome / C-like syndrome / Oberklaid-Danks syndrome / Opitz trigonocephaly-like syndrome", "OMIM:605039": "BOHRING-OPITZ SYNDROME; BOPS", "ORPHA:973": "Congenital absence/hypoplasia of fingers excluding thumb, unilateral/Adactylia, unilateral / Isolated absence/hypoplasia of fingers excluding thumb, unilateral / Isolated congenital adactyly of hand, unilateral / Isolated digits 2-5 hypodactyly, unilateral / Isolated digits 2-5 oligodactyly, unilateral", "OMIM:102650": "ADACTYLIA, UNILATERAL", "ORPHA:1563": "Dahlberg-Borer-Newcomer syndrome/Lymphedema-Hypoparathyroidism syndrome / Dahlberg syndrome / Lymphedema-hypoparathyroidism syndrome", "OMIM:247410": "LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME", "ORPHA:97330": "Thoracic outlet syndrome / TOS / Thoracic outlet compression syndrome", "ORPHA:97332": "Kienbock disease / Aseptic necrosis of the lunate bone / Lunatomalacia / Osteochondrosis of the lunate bone / Progressive avascular necrosis of the lunate bone", "ORPHA:97335": "Osgood-Schlatter disease / Aseptic necrosis of the tibial tubercle / Osteochondrosis of the tibial tubercle", "ORPHA:97336": "Panner disease / Aseptic necrosis of the capital humerus / Osteochondrosis of the capital humerus", "ORPHA:97337": "Sinding-Larsen-Johansson disease / Aseptic necrosis of patella / Osteochondrosis of patella", "OMIM:601379": "HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME", "ORPHA:97341": "Persistent placoid maculopathy", "OMIM:176500": "CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1", "OMIM:117300": "CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2", "ORPHA:97349": "Postencephalitic parkinsonism", "ORPHA:97355": "Caribbean parkinsonism / Atypical parkinsonism in the Caribbean", "ORPHA:1566": "Dandy-Walker malformation-postaxial polydactyly syndrome/Dandy-Walker malformation with postaxial polydactyly / DWM with postaxial polydactyly / Pierquin syndrome", "OMIM:220220": "DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY", "OMIM:267430": "RENAL TUBULAR DYSGENESIS; RTD", "ORPHA:974": "Adams-Oliver syndrome/Adams-Oliver syndrome 1 / AOS / Aplasia cutis congenita with distal limb anomalies / Aplasia cutis congenita with terminal transverse limb defects / Congenital scalp defects with distal limb anomalies / Congenital scalp defects with distal limb reduction anomalies", "OMIM:100300": "ADAMS-OLIVER SYNDROME 1; AOS1", "OMIM:208530": "RIGHT ATRIAL ISOMERISM; RAI", "ORPHA:976": "Adenine phosphoribosyltransferase deficiency/Adenine phosphoribosyltransferase deficiency / 2,8-dihydroxyadenine urolithiasis / APRT deficiency", "OMIM:614723": "ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD", "ORPHA:97685": "17q11 microdeletion syndrome/Chromosome 17q11.2 deletion syndrome, 1.4-mb / Del(17)(q11) / Monosomy 17q11 / NF1 microdeletion syndrome / Neurofibromatosis type 1 microdeletion syndrome", "OMIM:613675": "CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB", "ORPHA:977": "Adrenomyodystrophy", "ORPHA:978": "ADULT syndrome/Adult syndrome / Acro-dermato-ungual-lacrimal-tooth syndrome / Pigment anomaly-ectrodactyly-hypodontia syndrome", "OMIM:103285": "ADULT SYNDROME", "ORPHA:98": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay/Spastic ataxia, Charlevoix-Saguenay type / ARSACS / Autosomal recessive spastic ataxia type 6 / SPAX6", "OMIM:270550": "SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS", "ORPHA:98028": "Rare circulatory system disease", "ORPHA:100991": "Autosomal dominant spastic paraplegia type 10/Spastic paraplegia 10, autosomal dominant / SPG10", "OMIM:604187": "SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10", "ORPHA:981": "Internal carotid absence", "ORPHA:156728": "Spondyloepimetaphyseal dysplasia, matrilin-3 type/Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type / SEMD, MATN3-related / SEMD, matrilin-3 type", "OMIM:608728": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE; SEMDBCD", "OMIM:224400": "DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE; DDRD", "ORPHA:98292": "Mastocytosis/Mastocytosis, cutaneous", "OMIM:154800": "MASTOCYTOSIS, CUTANEOUS; MASTC", "ORPHA:98293": "Hodgkin lymphoma", "ORPHA:983": "Testicular regression syndrome/46, XY sex reversal 11 / ETRS / Embryonic testicular regression syndrome / Vanishing testes syndrome / Vanishing testis syndrome / XY gonadal agenesis syndrome", "OMIM:273250": "46,XY SEX REVERSAL 11; SRXY11", "ORPHA:1568": "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome / Pettigrew Syndrome", "ORPHA:157": "Carnitine palmitoyltransferase II deficiency / CPT2 / CPTII / Carnitine palmitoyltransferase deficiency type 2", "ORPHA:98375": "Autoimmune hemolytic anemia / AHA / AIHA", "ORPHA:1570": "Symbrachydactyly of hands and feet / De Smet-Fabry-Fryns syndrome", "OMIM:277450": "VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1", "ORPHA:100993": "Autosomal dominant spastic paraplegia type 12/Spastic paraplegia 12, autosomal dominant / SPG12", "OMIM:604805": "SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12", "ORPHA:1571": "Knobloch syndrome/Knobloch syndrome, type 1 / Knobloch-Layer syndrome / Retinal detachment-occipital encephalocele syndrome", "OMIM:267750": "KNOBLOCH SYNDROME 1; KNO1", "ORPHA:1572": "Common variable immunodeficiency/Immunodeficiency, common variable, 1 / CVID / Idiopathic immunoglobulin deficiency / Primary antibody deficiency / Primary hypogammaglobulinemia", "OMIM:607594": "IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1", "ORPHA:157215": "Hereditary hypophosphatemic rickets with hypercalciuria/Hypophosphatemic rickets with hypercalciuria, hereditary / HHRH", "OMIM:241530": "HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH", "ORPHA:1573": "Hypotrichosis with juvenile macular degeneration/Hypotrichosis, congenital, with juvenile macular dystrophy / HJMD / Hypotrichosis with juvenile macular dystrophy", "OMIM:601553": "HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD", "ORPHA:1574": "Retinal degeneration-nanophthalmos-glaucoma syndrome/Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma / Mackay-Shek-Carr syndrome", "OMIM:267760": "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 / Autosomal dominant optic atrophy, Kjer type / Kjer optic atrophy / Optic atrophy type 1", "OMIM:165500": "OPTIC ATROPHY 1; OPA1", "ORPHA:100994": "Autosomal dominant spastic paraplegia type 13/Spastic paraplegia 13, autosomal dominant / SPG13", "OMIM:605280": "SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13", "ORPHA:157794": "Hereditary mixed polyposis syndrome/Polyposis syndrome, hereditary mixed, 1 / HMPS", "OMIM:601228": "POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1", "ORPHA:157798": "Serrated polyposis syndrome / Hyperplastic polyposis syndrome", "ORPHA:98755": "Spinocerebellar ataxia type 1/Spinocerebellar ataxia 1 / SCA1", "OMIM:164400": "SPINOCEREBELLAR ATAXIA 1; SCA1", "ORPHA:98756": "Spinocerebellar ataxia type 2/Spinocerebellar ataxia 2 / SCA2", "OMIM:183090": "SPINOCEREBELLAR ATAXIA 2; SCA2", "ORPHA:98757": "Spinocerebellar ataxia type 3/Machado-Joseph disease / Azorean disease of the nervous system / MJD / Machado disease / Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia / SCA3", "OMIM:109150": "MACHADO-JOSEPH DISEASE; MJD", "ORPHA:98758": "Spinocerebellar ataxia type 6/Spinocerebellar ataxia 6 / SCA6", "OMIM:183086": "SPINOCEREBELLAR ATAXIA 6; SCA6", "ORPHA:98759": "Spinocerebellar ataxia type 17/Spinocerebellar ataxia 17 / HDL4 / Huntington disease-like 4 / SCA17", "OMIM:607136": "SPINOCEREBELLAR ATAXIA 17; SCA17", "ORPHA:98760": "Spinocerebellar ataxia type 8/Spinocerebellar ataxia 8 / SCA8", "OMIM:608768": "SPINOCEREBELLAR ATAXIA 8; SCA8", "ORPHA:98761": "Spinocerebellar ataxia type 10/Spinocerebellar ataxia 10 / SCA10", "OMIM:603516": "SPINOCEREBELLAR ATAXIA 10; SCA10", "ORPHA:98762": "Spinocerebellar ataxia type 12/Spinocerebellar ataxia 12 / SCA12", "OMIM:604326": "SPINOCEREBELLAR ATAXIA 12; SCA12", "ORPHA:98763": "Spinocerebellar ataxia type 14/Spinocerebellar ataxia 14 / SCA14", "OMIM:605361": "SPINOCEREBELLAR ATAXIA 14; SCA14", "ORPHA:98764": "Spinocerebellar ataxia type 27 / Spinocerebellar ataxia type 27A / SCA27A", "ORPHA:1578": "Pterin-4 alpha-carbinolamine dehydratase deficiency/Hyperphenylalaninemia, BH4-deficient, D / Hyperphenylalaninemia due to dehydratase deficiency / Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency / Hyperphenylalaninemia with primapterinuria", "OMIM:264070": "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D", "ORPHA:98765": "Spinocerebellar ataxia type 4/Spinocerebellar ataxia 4 / SCA4", "OMIM:600223": "SPINOCEREBELLAR ATAXIA 4; SCA4", "ORPHA:98766": "Spinocerebellar ataxia type 5/Spinocerebellar ataxia 5 / SCA5", "OMIM:600224": "SPINOCEREBELLAR ATAXIA 5; SCA5", "ORPHA:98767": "Spinocerebellar ataxia type 11/Spinocerebellar ataxia 11 / SCA11", "OMIM:604432": "SPINOCEREBELLAR ATAXIA 11; SCA11", "ORPHA:98768": "Spinocerebellar ataxia type 13/Spinocerebellar ataxia 13 / SCA13", "OMIM:605259": "SPINOCEREBELLAR ATAXIA 13; SCA13", "ORPHA:98769": "Spinocerebellar ataxia type 15/16/Spinocerebellar ataxia 15 / SCA15/16", "OMIM:606658": "SPINOCEREBELLAR ATAXIA 15; SCA15", "ORPHA:98771": "Spinocerebellar ataxia type 18/Spinocerebellar ataxia 18 / SCA18", "OMIM:607458": "SPINOCEREBELLAR ATAXIA 18; SCA18", "ORPHA:98772": "Spinocerebellar ataxia type 19/22/Spinocerebellar ataxia 19 / SCA19/22", "OMIM:607346": "SPINOCEREBELLAR ATAXIA 19; SCA19", "ORPHA:98773": "Spinocerebellar ataxia type 21/Spinocerebellar ataxia 21 / SCA21", "OMIM:607454": "SPINOCEREBELLAR ATAXIA 21; SCA21", "ORPHA:98791": "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 / ATR syndrome linked to chromosome 16 / ATR syndrome, deletion type / ATR-16 syndrome / Alpha thalassemia-intellectual disability syndrome, deletion type", "ORPHA:157801": "Mesoaxial synostotic syndactyly with phalangeal reduction/Syndactyly, mesoaxial synostotic, with phalangeal reduction / MSSD / Syndactyly type 9 / Syndactyly, Malik-Percin type", "OMIM:609432": "SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD", "ORPHA:98797": "Isochromosomy Yp / Isochromosomy Yp syndrome", "ORPHA:98798": "Isochromosomy Yq / Isochromosomy Yq syndrome", "ORPHA:988": "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome / Absent tibia-polydactyly syndrome / Werner mesomelic spectrum", "ORPHA:98805": "Primary dystonia, DYT4 type/Dystonia 4, torsion, autosomal dominant / Hereditary whispering dysphonia", "OMIM:128101": "DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4", "ORPHA:98806": "Primary dystonia, DYT6 type/Dystonia 6, torsion / Generalized cervical and upper-limb-onset dystonia / Idiopathic torsion dystonia of mixed type", "OMIM:602629": "DYSTONIA 6, TORSION; DYT6", "ORPHA:98807": "Primary dystonia, DYT13 type/Dystonia 13, torsion / Primary dystonia with mixed phenotype / Primary torsion dystonia with predominant craniocervical or upper limb onset", "OMIM:607671": "DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT; DYT13", "ORPHA:98808": "Autosomal dominant dopa-responsive dystonia/Dystonia, DOPA-responsive, with or without hyperphenylalaninemia / Autosomal dominant Segawa syndrome / DYT5a / GTPCH1-deficient DRD / GTPCH1-deficient dopa-responsive dystonia / HPD with marked diurnal fluctuation / Hereditary progressive dystonia with marked diurnal fluctuation", "OMIM:128230": "DYSTONIA, DOPA-RESPONSIVE; DRD", "ORPHA:98809": "Paroxysmal kinesigenic dyskinesia/Episodic kinesigenic dyskinesia 1 / Familial PKD / Familial paroxysmal kinesigenic dyskinesia / Paroxysmal kinesigenic choreathetosis", "OMIM:128200": "EPISODIC KINESIGENIC DYSKINESIA 1; EKD1", "ORPHA:98810": "Paroxysmal non-kinesigenic dyskinesia/Paroxysmal nonkinesigenic dyskinesia 1 / Paroxystic non-kinesigenic choreoathetosis", "OMIM:118800": "PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1", "ORPHA:98811": "Paroxysmal exertion-induced dyskinesia/Glut1 deficiency syndrome 2 / DYT18 / Dystonia 18 / PED", "OMIM:612126": "GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2", "OMIM:300291": "ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1", "OMIM:608096": "EPILEPSY, FAMILIAL TEMPORAL LOBE, 2; ETL2", "OMIM:272430": "CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1", "ORPHA:98826": "Refractory anemia / Myelodysplastic neoplasm with low blasts / MDS-LB", "ORPHA:98827": "Unclassified myelodysplastic syndrome", "ORPHA:98848": "Indolent systemic mastocytosis", "ORPHA:98849": "Systemic mastocytosis with associated hematologic neoplasm / SM-AHN / SM-AHNMD / Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease", "ORPHA:98850": "Aggressive systemic mastocytosis", "ORPHA:98853": "Autosomal dominant Emery-Dreifuss muscular dystrophy / EDMD2", "ORPHA:98855": "Autosomal recessive Emery-Dreifuss muscular dystrophy / EDMD3", "ORPHA:98856": "Charcot-Marie-Tooth disease type 2B1/Charcot-Marie-Tooth disease, axonal, type 2B1 / AR-CMT2B1 / Autosomal recessive Charcot-Marie-Tooth disease type 2B1 / Autosomal recessive axonal CMT4C1", "OMIM:605588": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1", "ORPHA:98863": "X-linked Emery-Dreifuss muscular dystrophy/Emery-Dreifuss muscular dystrophy 1, X-linked", "OMIM:310300": "EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1", "OMIM:166900": "OVALOCYTOSIS, SOUTHEAST ASIAN; SAO", "OMIM:224120": "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A", "ORPHA:98870": "Congenital dyserythropoietic anemia type III/Anemia, dyserythropoietic congenital, type III / CDA III / CDA type 3 / CDA type III / Congenital dyserythropoietic anemia type 3", "OMIM:105600": "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa; CDAN3A", "OMIM:227050": "TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD; TEC", "OMIM:224100": "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II; CDAN2", "ORPHA:98878": "Hemophilia A/Hemophilia A / Congenital F8 deficiency / Congenital FVIII deficiency / Congenital Factor VIII deficiency", "OMIM:306700": "HEMOPHILIA A; HEMA", "ORPHA:98879": "Hemophilia B/Hemophilia B / Christmas disease / Congenital F9 deficiency / Congenital factor IX deficiency", "OMIM:306900": "HEMOPHILIA B; HEMB", "ORPHA:98880": "Familial afibrinogenemia/Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included", "OMIM:202400": "AFIBRINOGENEMIA, CONGENITAL", "ORPHA:98881": "Familial dysfibrinogenemia", "OMIM:614201": "BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11", "OMIM:614200": "BLEEDING DISORDER, PLATELET-TYPE, 9; BDPLT9", "ORPHA:100995": "Autosomal recessive spastic paraplegia type 14/Spastic paraplegia 14, autosomal recessive / SPG14", "OMIM:605229": "SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14", "ORPHA:157835": "Paroxysmal hemicrania", "ORPHA:98890": "Early-onset X-linked optic atrophy/Optic atrophy 2 / Non-Leber type optic atrophy with early-onset / OPA2 / Optic atrophy type 2", "OMIM:311050": "OPTIC ATROPHY 2; OPA2", "ORPHA:98892": "Periventricular nodular heterotopia / PVNH", "OMIM:604801": "MUSCULAR DYSTROPHY, CONGENITAL, 1B; MDC1B", "ORPHA:98895": "Becker muscular dystrophy/Muscular dystrophy, Becker type / BMD / Becker dystrophinopathy", "OMIM:300376": "MUSCULAR DYSTROPHY, BECKER TYPE; BMD", "ORPHA:98896": "Duchenne muscular dystrophy/Duchenne muscular dystrophy / DMD / Severe dystrophinopathy, Duchenne type", "OMIM:310200": "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD", "ORPHA:98897": "Oculopharyngodistal myopathy/Oculopharyngodistal myopathy 1 / OPDM / Oculopharyngeal distal myopathy", "OMIM:164310": "OCULOPHARYNGODISTAL MYOPATHY 1; OPDM1", "ORPHA:989": "Hypoglossia-hypodactyly syndrome/HYPOGLOSSIA-HYPODACTYLIA / Aglossia-adactylia syndrome / Hanhart syndrome / Jussieu syndrome", "OMIM:103300": "HYPOGLOSSIA-HYPODACTYLIA", "ORPHA:98902": "Amish nemaline myopathy/Nemaline myopathy 5, Amish type", "OMIM:605355": "NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; NEM5A", "ORPHA:98905": "Congenital multicore myopathy with external ophthalmoplegia/Minicore myopathy with external ophthalmoplegia", "OMIM:255320": "CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; CMYO1B", "ORPHA:98907": "Neutral lipid storage disease with ichthyosis/Chanarin-Dorfman syndrome / CDS / DCS / Dorfman-Chanarin syndrome / NLSDI", "OMIM:275630": "CHANARIN-DORFMAN SYNDROME; CDS", "ORPHA:98908": "Neutral lipid storage myopathy/Neutral lipid storage disease with myopathy / Adipose triglyceride lipase deficiency / NLSDM / Neutral lipid storage disease type M / Neutral lipid storage disease with myopathy without ichthyosis", "OMIM:610717": "NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM", "ORPHA:98909": "Desminopathy/Myopathy, myofibrillar, 1 / Desmin-related myofibrillar myopathy", "OMIM:601419": "MYOPATHY, MYOFIBRILLAR, 1; MFM1", "ORPHA:98911": "Distal myotilinopathy/MYOTILINOPATHY", "OMIM:609200": "MYOPATHY, MYOFIBRILLAR, 3; MFM3", "ORPHA:98912": "Late-onset distal myopathy, Markesbery-Griggs type/Myopathy, myofibrillar, 4 / ZASP-related myofibrillar myopathy", "OMIM:609452": "MYOPATHY, MYOFIBRILLAR, 4; MFM4", "ORPHA:98913": "Postsynaptic congenital myasthenic syndromes", "ORPHA:98914": "Presynaptic congenital myasthenic syndromes/Myasthenic syndrome, congenital, 24, presynaptic", "OMIM:618198": "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC; CMS24", "ORPHA:98915": "Synaptic congenital myasthenic syndromes", "ORPHA:157846": "Neuroferritinopathy/Neurodegeneration with brain iron accumulation 3 / Adult basal ganglia disease / Ferritin-related neurodegeneration / Hereditary ferritinopathy", "OMIM:606159": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3", "ORPHA:98916": "Acute inflammatory demyelinating polyradiculoneuropathy / AIDP / Acute idiopathic demyelinating polyneuropathy / Acute inflammatory polyneuropathy / GBS, acute inflammatory demyelinating polyradiculoneuropathic form / Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form", "OMIM:604320": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1; HMNR1", "ORPHA:98933": "Multiple system atrophy, parkinsonian type / MSA, parkinsonian type / MSA-p", "ORPHA:98934": "Huntington disease-like 2/Huntington disease-like 2 / HDL2", "OMIM:606438": "HUNTINGTON DISEASE-LIKE 2; HDL2", "ORPHA:157850": "Pantothenate kinase-associated neurodegeneration/Neurodegeneration with brain iron accumulation 1 / Hallervorden-Spatz syndrome / NBIA1 / Neurodegeneration with brain iron accumulation type 1 / PKAN", "OMIM:234200": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1", "OMIM:122100": "CORNEAL DYSTROPHY, MEESMANN, 1; MECD1", "ORPHA:157941": "Huntington disease-like 1/Huntington disease-like 1 / Early-onset prion disease with prominent psychiatric features / HDL1", "OMIM:603218": "HUNTINGTON DISEASE-LIKE 1; HDL1", "OMIM:300778": "Corneal dystrophy, lisch epithelial", "OMIM:121820": "CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD", "OMIM:204870": "CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD", "ORPHA:98960": "Thiel-Behnke corneal dystrophy/Corneal dystrophy of bowman layer, type II / Anterior limiting membrane dystrophy type 2 / Anterior limiting membrane dystrophy type II / Corneal dystrophy of Bowman layer type 2 / Corneal dystrophy of Bowman layer type II / Curly fiber corneal dystrophy / Honeycomb corneal dystrophy / TBCD / Waardenburg-Jonker corneal dystrophy", "OMIM:602082": "CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE; CDTB", "OMIM:608470": "CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; CDRB", "ORPHA:98962": "Granular corneal dystrophy type I/Groenouw type I corneal dystrophy / Classic GCD / Classic granular corneal dystrophy / Corneal dystrophy Groenouw type I / GCD1 / GCDI / Granular corneal dystrophy type 1", "OMIM:121900": "CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1", "ORPHA:98963": "Granular corneal dystrophy type II/Corneal dystrophy, Avellino type / Avellino corneal dystrophy / GCD2 / GCDII / Granular corneal dystrophy type 2 / Granular-lattice corneal dystrophy", "OMIM:607541": "CORNEAL DYSTROPHY, AVELLINO TYPE; CDA", "ORPHA:98964": "Lattice corneal dystrophy type I/Corneal dystrophy, lattice type I / Biber-Haab-Dimmer dystrophy / Classic lattice corneal dystrophy / LCD1 / LCDI / Lattice corneal dystrophy type 1", "OMIM:122200": "CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1", "ORPHA:157946": "Huntington disease-like 3/Huntington disease-like 3 / HDL3", "OMIM:604802": "HUNTINGTON DISEASE-LIKE 3; HDL3", "OMIM:121800": "SCHNYDER CORNEAL DYSTROPHY; SCCD", "ORPHA:98969": "Macular corneal dystrophy/Macular dystrophy, corneal, 1 / MCD / Corneal dystrophy Groenouw type II / Fehr corneal dystrophy", "OMIM:217800": "MACULAR DYSTROPHY, CORNEAL; MCD", "OMIM:121850": "CORNEAL DYSTROPHY, FLECK; CFD", "OMIM:612868": "CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS; PACD", "OMIM:217600": "CENTRAL CLOUDY DYSTROPHY OF FRANCOIS; CCDF", "ORPHA:98973": "Posterior polymorphous corneal dystrophy/Corneal dystrophy, posterior polymorphous, 1 / PPCD / Posterior polymorphous dystrophy / Schlichting dystrophy", "OMIM:122000": "CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1", "ORPHA:98976": "Congenital glaucoma/Glaucoma 3, primary congenital, A / Buphthalmia / Buphthalmos / Buphthalmus / Primary congenital glaucoma", "OMIM:231300": "GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A", "ORPHA:98977": "Juvenile glaucoma", "OMIM:233650": "COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG", "ORPHA:157954": "ANE syndrome/Alopecia, neurologic defects, and endocrinopathy syndrome / Alopecia-progressive neurological defect-endocrinopathy syndrome", "OMIM:612079": "ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME; ANES", "ORPHA:99": "Autosomal dominant cerebellar ataxia / ADCA / Autosomal dominant spinocerebellar ataxia", "ORPHA:990": "Agnathia-holoprosencephaly-situs inversus syndrome/Agnathia-Otocephaly complex", "OMIM:202650": "AGNATHIA-OTOCEPHALY COMPLEX; AGOTC", "ORPHA:99000": "Adult-onset foveomacular vitelliform dystrophy/Macular dystrophy, vitelliform, 3 / AOFMD / AVMD / Adult-onset foveomacular dystrophy / Adult-onset foveomacular dystrophy with choroidal neovascularization / Adult-onset vitelliform macular dystrophy / Gass disease / Pseudo-Best disease / Pseudo-vitelliform macular dystrophy", "OMIM:608161": "MACULAR DYSTROPHY, VITELLIFORM, 3; VMD3", "OMIM:612109": "OCULOAURICULAR SYNDROME; OCACS", "ORPHA:99013": "Spastic paraplegia type 7/Spastic paraplegia 7, autosomal recessive / SPG7", "OMIM:607259": "SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7", "ORPHA:99014": "X-linked Charcot-Marie-Tooth disease type 5/Charcot-Marie-Tooth disease, X-linked recessive, 5 / CMT5X / CMTX5", "OMIM:311070": "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5", "ORPHA:99015": "Spastic paraplegia type 2/Spastic paraplegia 2, X-linked / SPG2 / Spastic gait type 2 / Spastic paraparesis type 2 / X-linked spastic paraplegia type 2", "OMIM:312920": "SPASTIC PARAPLEGIA 2, X-LINKED; SPG2", "ORPHA:99027": "Adult-onset autosomal dominant leukodystrophy/Leukodystrophy, adult-onset, autosomal dominant / ADLD / Adult-onset autosomal dominant demyelinating leukodystrophy", "OMIM:169500": "LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT, TYPICAL; ADLDTY", "ORPHA:157965": "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, spondylodysplastic type, 3 / SCD-EDS / SLC39A13-related spEDS / SLC39A13-related spondylodysplastic EDS / Spondylocheirodysplastic Ehlers-Danlos syndrome / spEDS-SLC39A13", "OMIM:612350": "EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3; EDSSPD3", "ORPHA:100008": "ACys amyloidosis/Amyloidosis VI / CST3-related amyloidosis / Cystatin amyloidosis / HCHWA, Icelandic type / Hereditary cerebral hemorrhage with amyloidosis, Icelandic type / Hereditary cystatin C amyloid angiopathy", "OMIM:105150": "CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED", "ORPHA:100996": "Autosomal recessive spastic paraplegia type 15/Spastic paraplegia 15, autosomal recessive / Hereditary spastic paraparesis type 15 / Kjellin syndrome / SPG15 / Spastic paraplegia-retinal degeneration syndrome", "OMIM:270700": "SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15", "ORPHA:157973": "Congenital muscular dystrophy due to LMNA mutation/LMNA-related congenital muscular dystrophy / L-CMD", "OMIM:613205": "MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED", "ORPHA:157991": "Generalized eruptive histiocytosis / Generalized eruptive histiocytoma", "OMIM:105805": "ANEURYSM OF INTERVENTRICULAR SEPTUM", "ORPHA:157997": "Benign cephalic histiocytosis", "ORPHA:991": "PAGOD syndrome / Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia 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 / CDSP / CUD / Carnitine transporter defect / Carnitine uptake deficiency / Deficiency of plasma-membrane carnitine transporter / SPCD", "OMIM:212140": "CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP", "ORPHA:1580": "Distal monosomy 10p / Distal deletion 10p syndrome / Monosomy 10pter / Telomeric deletion 10p", "ORPHA:99125": "Congenital total pulmonary venous return anomaly/Total anomalous pulmonary venous return 1", "OMIM:106700": "TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1", "ORPHA:158000": "Juvenile xanthogranuloma / JXG", "OMIM:613611": "CHOANAL ATRESIA AND LYMPHEDEMA; CATLPH", "ORPHA:99147": "Acquired von Willebrand syndrome / Acquired von Willebrand disease", "OMIM:126300": "DISTICHIASIS", "ORPHA:99226": "Monosomy X / Monosomy X syndrome", "ORPHA:158003": "Xanthoma disseminatum / Montgomery syndrome", "ORPHA:99228": "Mosaic monosomy X / Mosaic monosomy X syndrome", "ORPHA:99329": "48,XYYY syndrome", "ORPHA:99330": "49,XYYYY syndrome", "OMIM:155240": "THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC", "ORPHA:994": "Fetal akinesia deformation sequence/Fetal akinesia deformation sequence / Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome / FADS / Pena-Shokeir syndrome type 1", "OMIM:208150": "FETAL AKINESIA DEFORMATION SEQUENCE 1; FADS1", "ORPHA:99413": "Turner syndrome due to structural X chromosome anomalies", "ORPHA:99429": "Complete androgen insensitivity syndrome/Androgen insensitivity syndrome / CAIS / Complete androgen resistance syndrome", "OMIM:300068": "ANDROGEN INSENSITIVITY SYNDROME; AIS", "ORPHA:158008": "Papular xanthoma", "ORPHA:99657": "Primary dystonia, DYT2 type/Dystonia 2, torsion, autosomal recessive", "OMIM:224500": "DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2", "OMIM:602401": "ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8", "ORPHA:99688": "Dermotrichic syndrome", "ORPHA:99725": "Pituitary gigantism / Hypophyseal gigantism / Infantile and juvenile forms of acromegaly", "OMIM:272300": "SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD", "ORPHA:99734": "Myotonia fluctuans / Exercise-induced delayed-onset myotonia / Fluctuating myotonia", "ORPHA:99735": "Myotonia permanens", "ORPHA:99736": "Acetazolamide-responsive myotonia / ACZ-responsive congenital myotonia / ACZ-responsive myotonia / Acetazolamide-responsive congenital myotonia / Myotonia-painful contractions syndrome / Painful congenital myotonia / Painful myotonia", "ORPHA:99742": "Amish lethal microcephaly/Microcephaly, Amish type", "OMIM:607196": "MICROCEPHALY, AMISH TYPE; MCPHA", "ORPHA:99745": "Typhoid / Typhoid fever / Typhoidal salmonellosis", "ORPHA:99748": "Pontiac fever / Non-pneumonic Legionnaires' disease", "OMIM:610738": "NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3", "ORPHA:100997": "X-linked spastic paraplegia type 16/Spastic paraplegia 16, X-linked / SPG16", "OMIM:300266": "SPASTIC PARAPLEGIA 16, X-LINKED; SPG16", "ORPHA:158014": "Rosaï-Dorfman disease / Destombes-Rosaï-Dorfman disease / Rosaï-Dorfman-Destombes disease / SHML / Sinus histiocytosis with massive lymphadenopathy", "ORPHA:99750": "Atypical progressive supranuclear palsy syndrome / Atypical PSP syndrome", "OMIM:268220": "RHABDOMYOSARCOMA 2; RMS2", "OMIM:268210": "RHABDOMYOSARCOMA, EMBRYONAL, 1; RMSE1", "ORPHA:99771": "Bifid uvula / Bifidity of the uvula / Uvular cleft", "ORPHA:99772": "Cleft velum / Cleft soft palate / Cleft velum palatinum", "ORPHA:99776": "Mosaic trisomy 9 / Mosaic trisomy 9 syndrome / Mosaic trisomy chromosome 9 / Trisomy 9 mosaicism", "OMIM:125420": "DENTIN DYSPLASIA, TYPE II; DTDP2", "OMIM:125440": "DENTIN DYSPLASIA WITH SCLEROTIC BONES", "OMIM:206780": "ANODONTIA OF PERMANENT DENTITION", "ORPHA:99798": "Oligodontia / Selective tooth agenesis", "ORPHA:998": "Albinism-deafness syndrome/Albinism-Deafness syndrome / Albinism-hearing loss syndrome", "OMIM:300700": "ALBINISM-DEAFNESS SYNDROME; ADFN", "ORPHA:99803": "Haddad syndrome / Congenital central alveolar hypoventilation-Hirschsprung disease syndrome / Ondine-Hirschsprung disease / Ondine-Hirschsprung syndrome", "OMIM:617507": "PEHO-LIKE SYNDROME; PEHOL", "ORPHA:99811": "Neuronal intestinal pseudoobstruction/Natal teeth - intestinal pseudoobstruction - patent ductus", "OMIM:243185": "INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH", "ORPHA:99812": "LIG4 syndrome/LIG4 syndrome / DNA ligase IV deficiency / Ligase 4 syndrome", "OMIM:606593": "LIG4 SYNDROME", "ORPHA:158022": "Progressive nodular histiocytosis", "ORPHA:99818": "Turcot syndrome with polyposis", "ORPHA:99819": "Familial gestational hyperthyroidism/Hyperthyroidism, familial gestational", "OMIM:603373": "HYPERTHYROIDISM, FAMILIAL GESTATIONAL", "ORPHA:99824": "Lassa fever / LF / Lassa hemorrhagic fever", "ORPHA:99825": "Nipah virus disease / Nipah encephalitis / Nipah fever", "ORPHA:99826": "Marburg hemorrhagic fever / Green monkey disease / MHF / Marburg virus disease", "ORPHA:99827": "Crimean-Congo hemorrhagic fever / CCHF / Congo fever / Crimean hemorrhagic fever", "ORPHA:99828": "Dengue fever / DF / Dengue virus infection", "ORPHA:99829": "Yellow fever / Bronze John / YF / Yellow Jack", "ORPHA:99832": "Resistance to thyrotropin-releasing hormone syndrome / Central hypothyroidism due to TRH receptor deficiency / TRH resistance syndrome", "OMIM:116920": "LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD1", "ORPHA:158025": "Hereditary progressive mucinous histiocytosis/Histiocytosis, progressive mucinous", "OMIM:142630": "HISTIOCYTOSIS, PROGRESSIVE MUCINOUS", "ORPHA:99843": "Leukocyte adhesion deficiency type II/Congenital disorder of glycosylation, type IIc / CDG syndrome type IIc / CDG-IIc / CDG2C / LAD-II / Rambam-Hasharon syndrome / SLC35C1-CDG", "OMIM:266265": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C", "OMIM:612840": "LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3", "OMIM:160010": "MYOGLOBINURIA, AUTOSOMAL DOMINANT", "OMIM:612932": "GLYCOGEN STORAGE DISEASE XIII; GSD13", "ORPHA:99852": "Ravine syndrome / Progressive encephalopathy with severe infantile anorexia / Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome", "ORPHA:99857": "Secondary syringomyelia", "ORPHA:158029": "Sea-blue histiocytosis/Sea-Blue histiocyte disease", "OMIM:269600": "SEA-BLUE HISTIOCYTE DISEASE", "ORPHA:99867": "Thymoma / Primary thymic epithelial neoplasm / Primary thymic epithelial tumor", "ORPHA:99868": "Thymic carcinoma / Malignant thymoma", "ORPHA:99879": "Familial isolated hyperparathyroidism / FIHPT", "ORPHA:99880": "Hyperparathyroidism-jaw tumor syndrome / HPT-JT", "ORPHA:99885": "Isolated permanent neonatal diabetes mellitus/Diabetes mellitus, permanent neonatal 1 / Monogenic diabetes of infancy / Isolated PNDM", "OMIM:606176": "DIABETES MELLITUS, PERMANENT NEONATAL, 1; PNDM1", "ORPHA:99886": "Transient neonatal diabetes mellitus/Diabetes mellitus, transient neonatal, 1 / TNDM", "OMIM:601410": "DIABETES MELLITUS, TRANSIENT NEONATAL, 1; TNDM1", "ORPHA:99889": "Cushing syndrome due to ectopic ACTH secretion / Adrenocorticotropic hormone secretion syndrome / Ectopic ACTH secreting tumor / Ectopic Cushing syndrome / Occult ectopic ACTH secretion / Paraneoplastic Cushing syndrome", "ORPHA:999": "Ermine phenotype/Ermine phenotype / O'Doherty syndrome / Pigmentary disorder with deafness / Pigmentary disorder with hearing loss", "OMIM:227010": "ERMINE PHENOTYPE", "ORPHA:99901": "Acyl-CoA dehydrogenase 9 deficiency/Mitochondrial complex I deficiency, nuclear type 20 / ACAD9 deficiency", "OMIM:611126": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20", "ORPHA:99921": "Chronic graft versus host disease", "ORPHA:99925": "Invasive mole", "ORPHA:99926": "Gestational choriocarcinoma", "ORPHA:99927": "Hydatidiform mole / Molar pregnancy", "ORPHA:99928": "Placental site trophoblastic tumor / PSST", "ORPHA:99931": "Idiopathic pulmonary hemosiderosis/Pulmonary hemosiderosis", "OMIM:178550": "PULMONARY HEMOSIDEROSIS", "OMIM:600882": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B", "OMIM:606071": "HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C", "OMIM:601472": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D", "ORPHA:99939": "Autosomal dominant Charcot-Marie-Tooth disease type 2E/Charcot-Marie-Tooth disease, axonal, type 2E / CMT2E", "OMIM:607684": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E", "ORPHA:99940": "Autosomal dominant Charcot-Marie-Tooth disease type 2F/Charcot-Marie-Tooth disease, axonal, type 2F / CMT2F", "OMIM:606595": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F", "OMIM:607677": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I", "OMIM:607736": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J", "ORPHA:99944": "Autosomal dominant Charcot-Marie-Tooth disease type 2K / CMT2K", "OMIM:608673": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L", "OMIM:118210": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1", "ORPHA:99947": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2/Charcot-marie-tooth disease, axonal, type 2A2A / CMT2A2", "OMIM:609260": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A", "ORPHA:100998": "Autosomal dominant spastic paraplegia type 17/Spastic paraplegia 17 / SPG17 / Silver syndrome / Spastic paraplegia-amyotrophy of hands and feet", "OMIM:270685": "SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17", "ORPHA:99948": "Charcot-Marie-Tooth disease type 4A/Charcot-Marie-Tooth disease, type 4A / CMT4A", "OMIM:214400": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A; CMT4A", "ORPHA:99949": "Charcot-Marie-Tooth disease type 4C/Charcot-Marie-Tooth disease, type 4C / CMT4C", "OMIM:601596": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C; CMT4C", "ORPHA:99950": "Charcot-Marie-Tooth disease type 4D/Charcot-Marie-Tooth disease, type 4D / CMT4D / HMSN, Lom type / HMSN-Lom / Hereditary motor and sensory neuropathy, Lom type", "OMIM:601455": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4D; CMT4D", "OMIM:605253": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1", "OMIM:614895": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F", "ORPHA:99953": "Charcot-Marie-Tooth disease type 4G/Neuropathy, hereditary motor and sensory, Russe type / CMT4G / HMSNR / Hereditary motor and sensory neuropathy, Russe Type", "OMIM:605285": "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR", "OMIM:609311": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4H; CMT4H", "OMIM:601382": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B1; CMT4B1", "ORPHA:99956": "Charcot-Marie-Tooth disease type 4B2/Charcot-Marie-Tooth disease, type 4B2 / CMT4B2", "OMIM:604563": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B2; CMT4B2", "OMIM:243300": "CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1", "ORPHA:1581": "Non-distal monosomy 10q / Non-distal deletion 10q syndrome / Non-telomeric monosomy 10q", "OMIM:605479": "CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2", "ORPHA:99965": "O'Sullivan-McLeod syndrome", "ORPHA:99966": "Atypical teratoid rhabdoid tumor / ATRT", "ORPHA:99967": "Myxoid/round cell liposarcoma / MRCLS", "ORPHA:99969": "Pleomorphic liposarcoma / PLS", "ORPHA:99971": "Well-differentiated liposarcoma / ALT / Atypical lipoma / Atypical lipomatous tumor / WDLS", "ORPHA:99976": "Adenocarcinoma of the esophagus / Esophageal adenocarcinoma", "ORPHA:99977": "Squamous cell carcinoma of the esophagus / ESCC / Esophageal epidermoid carcinoma / Esophageal squamous cell carcinoma", "ORPHA:99978": "Klatskin tumor / Hilar CCA / Hilar cholangiocarcinoma", "OMIM:605714": "CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED", "OMIM:616221": "AMELOGENESIS IMPERFECTA, TYPE IH; AI1H", "OMIM:617297": "AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J", "OMIM:204650": "AMELOGENESIS IMPERFECTA, TYPE IC; AI1C", "OMIM:301201": "AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2", "OMIM:104500": "AMELOGENESIS IMPERFECTA, TYPE IB; AI1B", "OMIM:616270": "AMELOGENESIS IMPERFECTA, TYPE IF; AI1F", "OMIM:104530": "AMELOGENESIS IMPERFECTA, TYPE IA; AI1A", "OMIM:617607": "AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B", "OMIM:613211": "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3", "OMIM:617217": "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6", "OMIM:301200": "AMELOGENESIS IMPERFECTA, TYPE IE; AI1E", "OMIM:204700": "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1", "OMIM:612529": "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2", "OMIM:615887": "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5", "OMIM:614832": "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4; AI2A4", "OMIM:300909": "ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO; AEACEI", "OMIM:172700": "PICK DISEASE OF BRAIN", "OMIM:607485": "FRONTOTEMPORAL DEMENTIA 2; FTD2", "OMIM:242300": "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1", "OMIM:611819": "LONG QT SYNDROME 10; LQT10", "OMIM:613688": "LONG QT SYNDROME 2; LQT2", "OMIM:613485": "LONG QT SYNDROME 13; LQT13", "OMIM:616247": "LONG QT SYNDROME 14; LQT14", "OMIM:611820": "LONG QT SYNDROME 11; LQT11", "OMIM:613695": "LONG QT SYNDROME 5; LQT5", "OMIM:611818": "LONG QT SYNDROME 9; LQT9", "OMIM:613693": "LONG QT SYNDROME 6; LQT6", "OMIM:616249": "LONG QT SYNDROME 15; LQT15", "OMIM:603830": "LONG QT SYNDROME 3; LQT3", "OMIM:600919": "CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED", "OMIM:612955": "LONG QT SYNDROME 12; LQT12", "OMIM:616436": "EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7", "OMIM:616461": "EPILEPSY, FAMILIAL TEMPORAL LOBE, 8; ETL8", "OMIM:607734": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F", "OMIM:607706": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE", "OMIM:607831": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K", "OMIM:150700": "LEIOMYOMA OF VULVA AND ESOPHAGUS", "OMIM:104300": "ALZHEIMER DISEASE, FAMILIAL, 1; AD1", "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 / McGrath syndrome", "OMIM:604536": "ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME; EDSFS", "OMIM:602096": "ALZHEIMER DISEASE 5", "OMIM:609636": "ALZHEIMER DISEASE 10", "OMIM:607822": "ALZHEIMER DISEASE 3; AD3", "OMIM:606889": "ALZHEIMER DISEASE 4; AD4", "ORPHA:158673": "Localized dystrophic epidermolysis bullosa, acral form / Localized DEB, acral form", "OMIM:104310": "ALZHEIMER DISEASE 2; AD2", "OMIM:616868": "DIARRHEA 8, SECRETORY SODIUM, CONGENITAL; DIAR8", "OMIM:270420": "DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3", "OMIM:308905": "LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF; LOAM", "OMIM:613073": "METAPHYSEAL ANADYSPLASIA 2; MANDP2", "OMIM:617598": "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3", "OMIM:614114": "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2", "OMIM:618196": "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2", "OMIM:610896": "BRANCHIOOTORENAL SYNDROME 2; BOR2", "OMIM:614019": "LISSENCEPHALY 4 WITH MICROCEPHALY; LIS4", "ORPHA:158676": "Localized dystrophic epidermolysis bullosa, nails only / Localized DEB, nails only", "OMIM:616212": "LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6", "OMIM:615984": "BARDET-BIEDL SYNDROME 7; BBS7", "OMIM:615987": "BARDET-BIEDL SYNDROME 10; BBS10", "OMIM:615996": "BARDET-BIEDL SYNDROME 19; BBS19", "OMIM:615986": "BARDET-BIEDL SYNDROME 9; BBS9", "OMIM:615988": "BARDET-BIEDL SYNDROME 11; BBS11", "OMIM:615995": "BARDET-BIEDL SYNDROME 18; BBS18", "OMIM:615985": "BARDET-BIEDL SYNDROME 8; BBS8", "OMIM:615983": "BARDET-BIEDL SYNDROME 5; BBS5", "OMIM:615982": "BARDET-BIEDL SYNDROME 4; BBS4", "ORPHA:100999": "Autosomal dominant spastic paraplegia type 19/Spastic paraplegia 19, autosomal dominant / SPG19", "OMIM:607152": "SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19", "ORPHA:158681": "Epidermolysis bullosa simplex with circinate migratory erythema/Epidermolysis bullosa simplex 2E, with migratory circinate erythema / EBS with circinate migratory erythema / EBS-migr", "OMIM:609352": "EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA; EBS2E", "OMIM:600151": "BARDET-BIEDL SYNDROME 3; BBS3", "OMIM:209900": "BARDET-BIEDL SYNDROME 1; BBS1", "OMIM:615993": "BARDET-BIEDL SYNDROME 16; BBS16", "OMIM:615989": "BARDET-BIEDL SYNDROME 12; BBS12", "OMIM:615992": "BARDET-BIEDL SYNDROME 15; BBS15", "OMIM:615990": "BARDET-BIEDL SYNDROME 13; BBS13", "OMIM:605231": "BARDET-BIEDL SYNDROME 6; BBS6", "OMIM:615981": "BARDET-BIEDL SYNDROME 2; BBS2", "OMIM:615994": "BARDET-BIEDL SYNDROME 17; BBS17", "OMIM:615991": "BARDET-BIEDL SYNDROME 14; BBS14", "ORPHA:158684": "Epidermolysis bullosa simplex with pyloric atresia/Epidermolysis bullosa simplex with pyloric atresia / EBS with pyloric atresia / EBS-PA", "OMIM:612138": "EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA; EBS5C", "OMIM:617119": "BARDET-BIEDL SYNDROME 22; BBS22", "OMIM:617406": "BARDET-BIEDL SYNDROME 21; BBS21", "OMIM:600360": "APLASIA CUTIS CONGENITA OF LIMBS, AUTOSOMAL RECESSIVE", "OMIM:602522": "BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A", "OMIM:613090": "BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B", "OMIM:300971": "BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5", "OMIM:241200": "BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2", "OMIM:603457": "BOSMA ARHINIA MICROPHTHALMIA SYNDROME; BAMS", "OMIM:618435": "ARTHROGRYPOSIS, DISTAL, TYPE 2B2; DA2B2", "OMIM:616266": "CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD", "ORPHA:158687": "Lethal acantholytic erosive disorder/Epidermolysis bullosa, lethal acantholytic", "OMIM:609638": "EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA", "OMIM:126050": "DIGITOTALAR DYSMORPHISM", "OMIM:614335": "ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B", "OMIM:103920": "ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL", "OMIM:302500": "SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1", "OMIM:616462": "ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN", "OMIM:165199": "OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT", "OMIM:125250": "OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY", "OMIM:616648": "OPTIC ATROPHY 8; OPA8", "ORPHA:1587": "Monosomy 13q14/Chromosome 13q14 deletion syndrome / Monosomy 13q14 syndrome / Del(13)(q14) / Deletion 13q14", "OMIM:613884": "CHROMOSOME 13q14 DELETION SYNDROME", "OMIM:612562": "DIAMOND-BLACKFAN ANEMIA 7; DBA7", "OMIM:613308": "DIAMOND-BLACKFAN ANEMIA 9; DBA9", "OMIM:612528": "DIAMOND-BLACKFAN ANEMIA 5; DBA5", "OMIM:615909": "DIAMOND-BLACKFAN ANEMIA 13; DBA13", "OMIM:613309": "DIAMOND-BLACKFAN ANEMIA 10; DBA10", "OMIM:618310": "DIAMOND-BLACKFAN ANEMIA 18; DBA18", "OMIM:614900": "DIAMOND-BLACKFAN ANEMIA 11; DBA11", "OMIM:618313": "DIAMOND-BLACKFAN ANEMIA 20; DBA20", "OMIM:612563": "DIAMOND-BLACKFAN ANEMIA 8; DBA8", "OMIM:617408": "DIAMOND-BLACKFAN ANEMIA 16; DBA16", "OMIM:606164": "DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15", "OMIM:615550": "DIAMOND-BLACKFAN ANEMIA 12; DBA12", "OMIM:610629": "DIAMOND-BLACKFAN ANEMIA 3; DBA3", "OMIM:617409": "DIAMOND-BLACKFAN ANEMIA 17; DBA17", "OMIM:612561": "DIAMOND-BLACKFAN ANEMIA 6; DBA6", "OMIM:300946": "DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14", "OMIM:612527": "DIAMOND-BLACKFAN ANEMIA 4; DBA4", "OMIM:601353": "BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:601088": "AYME-GRIPP SYNDROME; AYGRP", "OMIM:613123": "BRUGADA SYNDROME 8; BRGDA8", "OMIM:616399": "BRUGADA SYNDROME 9; BRGDA9", "OMIM:611777": "BRUGADA SYNDROME 2; BRGDA2", "OMIM:613119": "BRUGADA SYNDROME 6; BRGDA6", "OMIM:611875": "BRUGADA SYNDROME 3; BRGDA3", "OMIM:612838": "BRUGADA SYNDROME 5; BRGDA5", "OMIM:611876": "BRUGADA SYNDROME 4; BRGDA4", "OMIM:613120": "BRUGADA SYNDROME 7; BRGDA7", "OMIM:603688": "PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY", "OMIM:176807": "PROSTATE CANCER", "OMIM:300147": "PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1", "OMIM:601518": "PROSTATE CANCER, HEREDITARY, 1; HPC1", "OMIM:260350": "PANCREATIC CANCER", "OMIM:613347": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 2", "OMIM:247650": "LYMPHOKINE DEFICIENCY", "OMIM:616445": "CANDIDIASIS, FAMILIAL, 9; CANDF9", "OMIM:613953": "IMMUNODEFICIENCY 51; IMD51", "OMIM:613108": "CANDIDIASIS, FAMILIAL, 4; CANDF4", "OMIM:613956": "CANDIDIASIS, FAMILIAL, 6; CANDF6", "OMIM:607644": "CANDIDIASIS, FAMILIAL, 3; CANDF3", "ORPHA:159": "Carnitine-acylcarnitine translocase deficiency/Carnitine-acylcarnitine translocase deficiency / CACT deficiency", "OMIM:212138": "CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD", "OMIM:252250": "MONOCYTE CHEMOTACTIC DISORDER", "OMIM:615527": "CANDIDIASIS, FAMILIAL, 8; CANDF8", "OMIM:615280": "CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4", "OMIM:615278": "CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2", "OMIM:615279": "CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3", "OMIM:615745": "ATRIAL STANDSTILL 2; ATRST2", "OMIM:108770": "ATRIAL STANDSTILL 1; ATRST1", "OMIM:615889": "LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP", "OMIM:160980": "CARNEY COMPLEX, TYPE 1; CNC1", "ORPHA:101": "Dentatorubral pallidoluysian atrophy/Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia / DRPLA / Dentatorubropallidoluysian atrophy / Naito-Oyanagi disease", "OMIM:125370": "DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA", "ORPHA:1590": "Distal monosomy 13q / Distal deletion 13q syndrome / 13q32 deletion / Deletion 13q32 / Monosomy 13q32 / Telomeric deletion 13q", "OMIM:615418": "MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B", "OMIM:607694": "LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7", "OMIM:212080": "CARDIAC LIPIDOSIS, FAMILIAL", "OMIM:116200": "CATARACT 1, MULTIPLE TYPES; CTRCT1", "OMIM:115700": "CATARACT 4, MULTIPLE TYPES; CTRCT4", "OMIM:601547": "CATARACT 3, MULTIPLE TYPES; CTRCT3", "OMIM:604219": "CATARACT 9, MULTIPLE TYPES; CTRCT9", "OMIM:614915": "LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4", "OMIM:182950": "SPINAL ARACHNOIDITIS", "OMIM:602483": "AURICULOCONDYLAR SYNDROME 1; ARCND1", "ORPHA:1596": "Distal monosomy 15q/Chromosome 15q26-qter deletion syndrome / Distal deletion 15q syndrome / 15q26 deletion syndrome / Monosomy 15q26 / Telomeric 15q deletion syndrome", "OMIM:612626": "CHROMOSOME 15q26-qter DELETION SYNDROME", "OMIM:614669": "AURICULOCONDYLAR SYNDROME 2A; ARCND2A", "OMIM:615706": "AURICULOCONDYLAR SYNDROME 3; ARCND3", "OMIM:612798": "QUESTION MARK EARS, ISOLATED; QME", "OMIM:617899": "LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14", "OMIM:612438": "LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6", "OMIM:608634": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3; HMND3", "OMIM:615575": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 6; HMND6", "OMIM:158590": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 2; HMND2", "OMIM:613376": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4; HMND4", "OMIM:614751": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 12; HMND12", "ORPHA:1597": "Distal monosomy 17q / Distal deletion 17q syndrome / Monosomy 17qter / Telomeric deletion 17q", "OMIM:600794": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5; HMND5", "OMIM:158580": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7; HMND7", "OMIM:607641": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14; HMND14", "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; BFIS3", "OMIM:187800": "BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16", "OMIM:613112": "MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT; MACTHC1", "OMIM:615193": "BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15", "ORPHA:1598": "Monosomy 18p/Chromosome 18p deletion syndrome / Monosomy 18p syndrome / 18p- syndrome / De Grouchy syndrome type 1", "OMIM:146390": "CHROMOSOME 18p DELETION SYNDROME", "OMIM:615630": "SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10", "OMIM:266920": "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9", "OMIM:617252": "UNCOMBABLE HAIR SYNDROME 3; UHS3", "OMIM:617251": "UNCOMBABLE HAIR SYNDROME 2; UHS2", "OMIM:191480": "UNCOMBABLE HAIR SYNDROME 1; UHS1", "OMIM:607842": "AURAL ATRESIA, CONGENITAL; CAA", "OMIM:108760": "ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS", "OMIM:186400": "SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL", "OMIM:608874": "OROFACIAL CLEFT 5; OFC5", "OMIM:129400": "RAPP-HODGKIN SYNDROME; RHS", "ORPHA:16": "Blue cone monochromatism/Blue cone monochromacy / Atypical X-linked achromatopsia / Color blindness, blue monocone monochromatic type / S cone monochromacy / S cone monochromatism / X-linked incomplete achromatopsia", "OMIM:303700": "BLUE CONE MONOCHROMACY; BCM", "OMIM:600668": "CHONDROCALCINOSIS 1; CCAL1", "OMIM:615777": "DESBUQUOIS DYSPLASIA 2; DBQD2", "OMIM:215450": "CHOREA, BENIGN FAMILIAL", "OMIM:614337": "LYNCH SYNDROME 4; LYNCH4", "OMIM:614385": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7", "OMIM:613244": "LYNCH SYNDROME 8; LYNCH8", "OMIM:614331": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6", "OMIM:614350": "LYNCH SYNDROME 5; LYNCH5", "OMIM:609310": "LYNCH SYNDROME 2; LYNCH2", "CCRD:16": "Castleman 病/Castleman disease; CD/Castleman disease", "ORPHA:160": "Castleman 病/Castleman disease; CD/Castleman disease / Angiofollicular ganglionic hyperplasia / Angiofollicular lymph hyperplasia", "OMIM:612555": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2", "OMIM:613399": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3", "OMIM:604370": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1", "OMIM:216330": "CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM", "OMIM:188550": "THYROID CANCER, NONMEDULLARY, 1; NMTC1", "OMIM:615824": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7", "OMIM:615157": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2", "OMIM:615453": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6", "ORPHA:1600": "Monosomy 18q/Chromosome 18q deletion syndrome / Monosomy 18q syndrome / 18q- syndrome / De Grouchy syndrome type 2 / Deletion 18q", "OMIM:601808": "CHROMOSOME 18q DELETION SYNDROME", "OMIM:615160": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5", "OMIM:124000": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1", "OMIM:615159": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4", "OMIM:615838": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8", "OMIM:616111": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9; MC3DN9", "OMIM:615158": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3", "OMIM:135900": "COFFIN-SIRIS SYNDROME 1; CSS1", "OMIM:615866": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM; IDDMOH", "OMIM:617808": "COFFIN-SIRIS SYNDROME 6; CSS6", "OMIM:616938": "COFFIN-SIRIS SYNDROME 5; CSS5", "ORPHA:160148": "Cap polyposis / Cap inflammatory polyposis / Eroded polypoid hyperplasia / Inflammatory myoglandular polyps / Polypoid prolapsing folds", "OMIM:618362": "COFFIN-SIRIS SYNDROME 8; CSS8", "OMIM:618027": "COFFIN-SIRIS SYNDROME 7; CSS7", "OMIM:614608": "COFFIN-SIRIS SYNDROME 3; CSS3", "OMIM:614609": "COFFIN-SIRIS SYNDROME 4; CSS4", "OMIM:614607": "COFFIN-SIRIS SYNDROME 2; CSS2", "OMIM:616570": "CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3", "OMIM:610756": "CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2", "OMIM:278780": "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG", "OMIM:610758": "CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4", "OMIM:214150": "CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1", "ORPHA:1606": "1p36 deletion syndrome/Chromosome 1p36 deletion syndrome / Del(1)(p36) / Deletion 1p36 / Deletion 1pter / Monosomy 1p36 / Monosomy 1pter / Subtelomeric 1p36 deletion", "OMIM:607872": "CHROMOSOME 1p36 DELETION SYNDROME, DISTAL", "OMIM:614475": "ATRIAL SEPTAL DEFECT 9; ASD9", "OMIM:612794": "ATRIAL SEPTAL DEFECT 5; ASD5", "OMIM:611363": "ATRIAL SEPTAL DEFECT 4; ASD4", "OMIM:614089": "ATRIAL SEPTAL DEFECT 3; ASD3", "OMIM:607941": "ATRIAL SEPTAL DEFECT 2; ASD2", "OMIM:614433": "ATRIAL SEPTAL DEFECT 8; ASD8", "OMIM:613087": "ATRIAL SEPTAL DEFECT 6; ASD6", "OMIM:161550": "NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2; NPCA2", "OMIM:617075": "NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3", "OMIM:202300": "ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC", "ORPHA:1617": "2q24 microdeletion syndrome / Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion / Del(2)(q24) / Monosomy 2q24", "OMIM:613610": "CRANIOECTODERMAL DYSPLASIA 2; CED2", "OMIM:614378": "CRANIOECTODERMAL DYSPLASIA 4; CED4", "OMIM:617102": "SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16", "OMIM:614099": "CRANIOECTODERMAL DYSPLASIA 3; CED3", "OMIM:218400": "CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR", "OMIM:123000": "CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD", "OMIM:615396": "LEFT VENTRICULAR NONCOMPACTION 10; LVNC10", "OMIM:613694": "CARDIOMYOPATHY, DILATED, 1U; CMD1U", "OMIM:611878": "CARDIOMYOPATHY, DILATED, 1Y; CMD1Y", "ORPHA:1010": "Autosomal dominant palmoplantar keratoderma and congenital alopecia/Palmoplantar keratoderma with congenital alopecia / Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia / PPK-CA, Stevanovic type / Palmoplantar keratoderma and congenital alopecia, Stevanovic type", "OMIM:104100": "PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; PPKCA1", "OMIM:612158": "CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA", "OMIM:615916": "CARDIOMYOPATHY, DILATED, 1NN; CMD1NN", "OMIM:613122": "CARDIOMYOPATHY, DILATED, 1CC; CMD1CC", "OMIM:608569": "CARDIOMYOPATHY, DILATED, 1O; CMD1O", "OMIM:613697": "CARDIOMYOPATHY, DILATED, 1V; CMD1V", "OMIM:614672": "CARDIOMYOPATHY, DILATED, 2B; CMD2B", "OMIM:611879": "CARDIOMYOPATHY, DILATED, 1Z; CMD1Z", "OMIM:607482": "CARDIOMYOPATHY, DILATED, 1M; CMD1M", "OMIM:615248": "CARDIOMYOPATHY, DILATED, 1KK; CMD1KK", "OMIM:604765": "CARDIOMYOPATHY, DILATED, 1I; CMD1I", "ORPHA:1620": "Distal monosomy 3p/Chromosome 3pter-p25 deletion syndrome / Distal deletion 3p syndrome / 3p deletion syndrome / 3p- syndrome / Monosomy 3pter / Telomeric monosomy 3p", "OMIM:613792": "CHROMOSOME 3pter-p25 DELETION SYNDROME", "OMIM:618189": "CARDIOMYOPATHY, DILATED, 2C; CMD2C", "OMIM:601154": "CARDIOMYOPATHY, DILATED, 1E; CMD1E", "OMIM:611880": "CARDIOMYOPATHY, DILATED, 2A; CMD2A", "OMIM:613172": "CARDIOMYOPATHY, DILATED, 1DD; CMD1DD", "OMIM:611615": "CARDIOMYOPATHY, DILATED, 1X; CMD1X", "OMIM:601493": "CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1C", "OMIM:606685": "CARDIOMYOPATHY, DILATED, 1L; CMD1L", "OMIM:612877": "CARDIOMYOPATHY, DILATED, 1BB; CMD1BB", "ORPHA:1621": "3q13 microdeletion syndrome/Chromosome 3q13.31 deletion syndrome / Del(3)(q13) / Monosomy 3q13", "OMIM:615433": "CHROMOSOME 3q13.31 DELETION SYNDROME", "OMIM:613424": "CARDIOMYOPATHY, DILATED, 1R; CMD1R", "OMIM:604145": "CARDIOMYOPATHY, DILATED, 1G; CMD1G", "OMIM:613426": "CARDIOMYOPATHY, DILATED, 1S; CMD1S", "OMIM:613252": "CARDIOMYOPATHY, DILATED, 1EE; CMD1EE", "OMIM:302045": "CARDIOMYOPATHY, DILATED, 3B; CMD3B", "OMIM:615235": "CARDIOMYOPATHY, DILATED, 1JJ; CMD1JJ", "OMIM:609909": "CARDIOMYOPATHY, DILATED, 1P; CMD1P", "OMIM:613881": "CARDIOMYOPATHY, DILATED, 1HH; CMD1HH", "OMIM:601494": "CARDIOMYOPATHY, DILATED, 1D; CMD1D", "OMIM:615373": "LEFT VENTRICULAR NONCOMPACTION 8; LVNC8", "OMIM:611407": "CARDIOMYOPATHY, DILATED, 1W; CMD1W", "OMIM:613286": "CARDIOMYOPATHY, DILATED, 1FF; CMD1FF", "OMIM:613642": "CARDIOMYOPATHY, DILATED, 1GG; CMD1GG", "OMIM:600884": "CARDIOMYOPATHY, DILATED, 1B; CMD1B", "OMIM:615184": "CARDIOMYOPATHY, DILATED, 1II; CMD1II", "OMIM:604377": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2; MC4DN2", "OMIM:616500": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9; MC4DN9", "OMIM:616501": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13; MC4DN13", "OMIM:615119": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6; MC4DN6", "OMIM:304340": "PETTIGREW SYNDROME; PGS", "OMIM:613494": "IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4", "OMIM:146830": "IMMUNE DEFICIENCY, FAMILIAL VARIABLE", "OMIM:613496": "IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6", "OMIM:613495": "IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5", "OMIM:616576": "IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY; CVID12", "OMIM:615577": "IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10", "OMIM:240500": "IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2", "OMIM:613493": "IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3", "OMIM:614699": "IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7", "OMIM:500003": "STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL", "OMIM:610069": "POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2", "OMIM:617108": "SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS", "OMIM:610313": "CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2", "OMIM:617055": "PERCHING SYNDROME; PERCHING", "OMIM:148000": "KAPOSI SARCOMA, SUSCEPTIBILITY TO", "OMIM:616975": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH", "OMIM:600886": "HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC", "ORPHA:163": "Hereditary hyperferritinemia-cataract syndrome / HHCS / Hereditary hyperferritinemia with cataracts / Hereditary hyperferritinemia-cataract disease", "OMIM:614417": "EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5", "OMIM:611630": "EPILEPSY, FAMILIAL TEMPORAL LOBE, 3; ETL3", "OMIM:615697": "EPILEPSY, FAMILIAL TEMPORAL LOBE, 6; ETL6", "OMIM:245570": "EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; FESD", "OMIM:300643": "ROLANDIC EPILEPSY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SPEECH DYSPRAXIA, X-LINKED; RESDX", "OMIM:415000": "SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2", "OMIM:615224": "ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2", "OMIM:616882": "ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3; FASPS3", "OMIM:310468": "NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN", "OMIM:308990": "PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS", "OMIM:300554": "HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE; XLHRR", "OMIM:125400": "DENTIN DYSPLASIA, TYPE I; DTDP1", "OMIM:601230": "DERMATITIS HERPETIFORMIS, FAMILIAL", "OMIM:614418": "FEBRILE SEIZURES, FAMILIAL, 11; FEB11", "OMIM:600204": "EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2", "OMIM:614135": "EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6", "OMIM:600969": "EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3", "OMIM:605594": "DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1", "OMIM:182190": "SINUS NODE DISEASE AND MYOPIA", "OMIM:163800": "SICK SINUS SYNDROME 2; SSS2", "OMIM:614662": "CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2", "OMIM:604931": "CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1", "OMIM:612004": "THROMBOCYTOPENIA 4; THC4", "OMIM:273900": "THROMBOCYTOPENIA 3; THC3", "OMIM:188000": "THROMBOCYTOPENIA 2; THC2", "OMIM:245480": "SPECIFIC GRANULE DEFICIENCY 1; SGD1", "OMIM:617475": "SPECIFIC GRANULE DEFICIENCY 2; SGD2", "OMIM:614379": "COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD", "OMIM:217000": "COMPLEMENT COMPONENT 2 DEFICIENCY; C2D", "OMIM:216950": "COMPLEMENT COMPONENT C1r/C1s DEFICIENCY", "OMIM:614380": "COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD", "OMIM:613783": "COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD", "OMIM:613652": "C1q DEFICIENCY 1; C1QD1", "OMIM:613790": "COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1", "OMIM:610102": "COMPLEMENT COMPONENT 7 DEFICIENCY; C7D", "ORPHA:101000": "Autosomal recessive spastic paraplegia type 20/Spastic paraplegia 20, autosomal recessive / Childhood-onset spastic paraparesis-distal muscle wasting syndrome / SPG20 / Troyer syndrome", "OMIM:275900": "SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20", "OMIM:613789": "COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2", "OMIM:613825": "COMPLEMENT COMPONENT 9 DEFICIENCY; C9D", "OMIM:612446": "COMPLEMENT COMPONENT 6 DEFICIENCY; C6D", "OMIM:609536": "COMPLEMENT COMPONENT 5 DEFICIENCY; C5D", "OMIM:608971": "IMMUNODEFICIENCY 104, SEVERE COMBINED; IMD104", "OMIM:615617": "IMMUNODEFICIENCY 19, SEVERE COMBINED; IMD19", "OMIM:610163": "IMMUNODEFICIENCY 25; IMD25", "OMIM:615615": "IMMUNODEFICIENCY 18; IMD18", "OMIM:615959": "MYOPATHY, CENTRONUCLEAR, 5; CNM5", "OMIM:255200": "MYOPATHY, CENTRONUCLEAR, 2; CNM2", "OMIM:615896": "HYPOTRICHOSIS 13; HYPT13", "OMIM:278150": "HYPOTRICHOSIS 8; HYPT8", "OMIM:616760": "WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3", "OMIM:604379": "HYPOTRICHOSIS 7; HYPT7", "OMIM:602114": "NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE", "OMIM:615348": "NEMALINE MYOPATHY 8; NEM8", "OMIM:161800": "CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A", "OMIM:256030": "NEMALINE MYOPATHY 2; NEM2", "OMIM:615731": "NEMALINE MYOPATHY 9; NEM9", "OMIM:616165": "NEMALINE MYOPATHY 10; NEM10", "OMIM:609284": "CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B", "OMIM:609285": "CONGENITAL MYOPATHY 23; CMYO23", "OMIM:610687": "NEMALINE MYOPATHY 7; NEM7", "OMIM:617336": "CONGENITAL MYOPATHY 24; CMYO24", "OMIM:609273": "NEMALINE MYOPATHY 6; NEM6", "OMIM:168601": "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "OMIM:102530": "SPERMATOGENIC FAILURE 6; SPGF6", "OMIM:613958": "SPERMATOGENIC FAILURE 9; SPGF9", "OMIM:609056": "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS", "OMIM:615785": "WHITE SPONGE NEVUS 2; WSN2", "OMIM:250460": "METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH", "OMIM:300260": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; MRXSL", "OMIM:613227": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34; SCAR34", "OMIM:610185": "CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2", "OMIM:615268": "CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4", "OMIM:613989": "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2", "OMIM:615190": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5", "ORPHA:163596": "Hb Bart's hydrops fetalis / Alpha-thalassemia hydrops fetalis / Alpha-thalassemia major / BHFS / HBHF / Haemoglobin Bart's disease / Haemoglobin Bart's hydrops fetalis / Haemoglobin Bart's hydrops fetalis syndrome / Hb Bart's hydrops fetalis syndrome / Hemoglobin Bart's disease / Hemoglobin Bart's hydrops fetalis / Hemoglobin Bart's hydrops fetalis syndrome / Homozygous alpha0-thalassemia", "OMIM:616353": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6", "OMIM:224230": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1", "OMIM:305000": "DYSKERATOSIS CONGENITA, X-LINKED; DKCX", "OMIM:613987": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2", "OMIM:613988": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3", "OMIM:613990": "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3", "OMIM:600630": "UV-SENSITIVE SYNDROME 1; UVSS1", "OMIM:614640": "UV-SENSITIVE SYNDROME 3; UVSS3", "OMIM:614621": "UV-SENSITIVE SYNDROME 2; UVSS2", "ORPHA:1636": "Distal monosomy 7q36 / Distal monosomy 7q36 syndrome / Distal deletion 7q36 / Monosomy 7qter / Telomeric deletion 7q36", "OMIM:615222": "SMITH-MCCORT DYSPLASIA 2; SMC2", "OMIM:607326": "SMITH-MCCORT DYSPLASIA 1; SMC1", "OMIM:614254": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD", "OMIM:612581": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 4; MRD4", "OMIM:612621": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5; MRD5", "OMIM:616393": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38; MRD38", "OMIM:614257": "CHROMOSOME 20q11-q12 DELETION SYNDROME", "OMIM:615828": "VULTO-VAN SILFHOUT-DE VRIES SYNDROME; VSVS", "OMIM:614563": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13; CDCBM13", "OMIM:614113": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 2; MRD2", "OMIM:614256": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 10; MRD10", "OMIM:616083": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; MRD30", "OMIM:616977": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43; MRD43", "OMIM:618330": "NEURODEVELOPMENTAL DISORDER WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT MOTOR OR SPEECH DELAY; NEDDMS", "OMIM:614255": "NESCAV SYNDROME; NESCAVS", "OMIM:156200": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1; MRD1", "OMIM:617854": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56; MRD56", "OMIM:617798": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53; MRD53", "OMIM:618095": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63; MRT63", "OMIM:616579": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD", "ORPHA:163634": "Maffucci syndrome/Multiple enchondromatosis, Maffucci type / Enchondromatosis Spranger type II / Multiple Enchondromatosis type II / Multiple Enchondromatosis, Maffucci Type", "OMIM:614569": "MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE", "OMIM:612580": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 3; MRD3", "OMIM:617799": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54; MRD54", "OMIM:613970": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6", "OMIM:618106": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58; MRD58", "OMIM:122600": "SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5", "OMIM:602722": "RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS; DRTA3", "OMIM:267300": "RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS; DRTA2", "OMIM:113700": "BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1", "OMIM:616001": "BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2", "OMIM:617337": "ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12", "OMIM:614940": "ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT; ECTD11A", "OMIM:129490": "ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A", "OMIM:613029": "GLIOMA SUSCEPTIBILITY 3; GLM3", "ORPHA:163649": "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome / Spondyloepiphyseal dysplasia, Nishimura type", "OMIM:305620": "FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1", "OMIM:617137": "FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2", "OMIM:613681": "CHROMOSOME 2q31.1 DUPLICATION SYNDROME", "OMIM:617805": "RENAL HYPODYSPLASIA/APLASIA 3; RHDA3", "OMIM:109720": "BILIARY CIRRHOSIS, PRIMARY, 1; PBC1", "OMIM:613093": "CONE DYSTROPHY 4; COD4", "ORPHA:101001": "Autosomal recessive spastic paraplegia type 21/Mast syndrome / SPG21", "OMIM:248900": "MAST SYNDROME; MASTS", "ORPHA:163654": "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome/Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech / SED-BDS / Spondyloepiphyseal dysplasia, Cantu type / Tattoo dysplasia", "OMIM:611717": "SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH", "OMIM:602093": "CONE DYSTROPHY 3; COD3", "OMIM:180020": "RETINAL CONE DYSTROPHY 1; RCD1", "OMIM:300085": "CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2", "OMIM:304020": "CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1", "OMIM:613660": "CONE-ROD DYSTROPHY 15; CORD15", "OMIM:601777": "CONE-ROD DYSTROPHY 6; CORD6", "OMIM:605549": "CONE-ROD DYSTROPHY 8; CORD8", "OMIM:600977": "CONE-ROD DYSTROPHY 5; CORD5", "OMIM:610381": "CONE-ROD DYSTROPHY 11; CORD11", "OMIM:600561": "SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY", "OMIM:615860": "CONE-ROD DYSTROPHY 19; CORD19", "OMIM:600624": "CONE-ROD DYSTROPHY 1; CORD1", "OMIM:612775": "CONE-ROD DYSTROPHY 9; CORD9", "OMIM:615163": "CONE-ROD DYSTROPHY 17; CORD17", "OMIM:300834": "MACULAR DEGENERATION, ATROPHIC, X-LINKED", "OMIM:604116": "CONE-ROD DYSTROPHY 3; CORD3", "OMIM:603649": "CONE-ROD DYSTROPHY 7; CORD7", "OMIM:615973": "CONE-ROD DYSTROPHY 20; CORD20", "OMIM:610283": "CONE-ROD DYSTROPHY 10; CORD10", "OMIM:614500": "CONE-ROD DYSTROPHY 16; CORD16", "ORPHA:163665": "Spondyloepiphyseal dysplasia tarda, Kohn type/Spondyloepiphyseal dysplasia tarda with mental retardation", "OMIM:271620": "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:612657": "CONE-ROD DYSTROPHY 12; CORD12", "OMIM:615374": "CONE-ROD DYSTROPHY 18; CORD18", "OMIM:300476": "CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3", "OMIM:616502": "CONE-ROD DYSTROPHY 21; CORD21", "OMIM:610478": "RETINAL CONE DYSTROPHY 4; RCD4", "OMIM:608194": "CONE-ROD DYSTROPHY 13; CORD13", "OMIM:604393": "LEBER CONGENITAL AMAUROSIS 4; LCA4", "OMIM:225100": "ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2", "OMIM:225200": "ECTOPIA LENTIS ET PUPILLAE", "OMIM:129600": "ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1", "OMIM:615954": "ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2", "OMIM:615830": "PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4", "OMIM:614190": "PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3", "OMIM:610489": "PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1", "OMIM:610475": "PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2", "OMIM:146200": "HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1; FIH1", "OMIM:129900": "ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1", "OMIM:617821": "EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2; EDSARTH2", "OMIM:133540": "COCKAYNE SYNDROME B; CSB", "ORPHA:163681": "CNTNAP2-related developmental and epileptic encephalopathy/Pitt-Hopkins like syndrome 1 / CDFE syndrome / CDFES / CNTNAP2-related DEE / Cortical dysplasia-focal epilepsy syndrome", "OMIM:610042": "PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1", "OMIM:216400": "COCKAYNE SYNDROME A; CSA", "OMIM:601759": "PREAXIAL HALLUCAL POLYDACTYLY", "OMIM:617900": "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8", "OMIM:616532": "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7", "OMIM:614850": "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6; IIAE6", "OMIM:613002": "IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD83", "OMIM:308350": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1", "OMIM:617350": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52", "OMIM:616341": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30; DEE30", "OMIM:613724": "LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY; LKDMN", "OMIM:615473": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17; DEE17", "OMIM:617391": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54; DEE54", "OMIM:617389": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53; DEE53", "OMIM:613402": "MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ", "OMIM:617599": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55; DEE55", "OMIM:609304": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3", "OMIM:612164": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4", "OMIM:617276": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48", "OMIM:617493": "NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM", "OMIM:613721": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11; DEE11", "ORPHA:163690": "Hypotonia-cystinuria syndrome/Hypotonia-cystinuria syndrome / HCS", "OMIM:606407": "HYPOTONIA-CYSTINURIA SYNDROME", "OMIM:617105": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41; DEE41", "OMIM:616421": "MYOCLONIC-ATONIC EPILEPSY; MAE", "OMIM:615369": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94; DEE94", "OMIM:121201": "SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2", "OMIM:608217": "SEIZURES, BENIGN FAMILIAL NEONATAL, 3; BFNS3", "OMIM:616413": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6", "OMIM:615483": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5", "OMIM:615007": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4", "ORPHA:163693": "2p21 microdeletion syndrome / 2p21 deletion syndrome / Del(2)(p21) / Monosomy 2p21", "OMIM:300590": "CORNELIA DE LANGE SYNDROME 2; CDLS2", "OMIM:300882": "CORNELIA DE LANGE SYNDROME 5; CDLS5", "OMIM:610759": "CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS3", "OMIM:614701": "CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS4", "OMIM:234810": "PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2", "OMIM:277350": "HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE", "OMIM:613705": "OROFACIAL CLEFT 10; OFC10", "OMIM:600625": "OROFACIAL CLEFT 11; OFC11", "OMIM:616788": "OROFACIAL CLEFT 15; OFC15", "OMIM:254900": "EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4", "OMIM:608864": "OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6", "OMIM:119800": "CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF", "OMIM:607483": "BASAL GANGLIA DISEASE, BIOTIN-THIAMINE RESPONSIVE; BTBGD", "OMIM:215800": "CLEFT LARYNX, POSTERIOR", "OMIM:609814": "COMPLEMENT FACTOR H DEFICIENCY; CFHD", "OMIM:615109": "COWDEN SYNDROME 6; CWS6", "OMIM:616858": "COWDEN SYNDROME 7; CWS7", "OMIM:612359": "Cowden-Like syndrome", "OMIM:615108": "COWDEN SYNDROME 5; CWS5", "OMIM:606243": "ALVEOLAR SOFT PART SARCOMA; ASPS", "OMIM:615107": "COWDEN SYNDROME 4; CWS4", "OMIM:300580": "MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX", "OMIM:617760": "MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6", "OMIM:614524": "FIBROCHONDROGENESIS 2; FBCG2", "OMIM:617626": "FIBROMATOSIS, GINGIVAL, 5; GINGF5", "OMIM:228600": "HYALINE FIBROMATOSIS SYNDROME; HFS", "OMIM:616373": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3; PFBMFT3", "ORPHA:101003": "Autosomal recessive spastic paraplegia type 23/Spastic paraplegia 23 / Lison syndrome / SPG23 / Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome", "OMIM:270750": "SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE; SPG23", "ORPHA:163703": "Febrile infection-related epilepsy syndrome / AERRPS / Acute encephalitis with refractory repetitive partial seizures / Acute non-herpetic encephalitis with severe refractory status epilepticus / DESC syndrome / Devastating epileptic encephalopathy in school-aged children / FIRES / Fever-induced refractory epileptic encephalopathy in school-aged children", "OMIM:616371": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4; PFBMFT4", "OMIM:616294": "COLE-CARPENTER SYNDROME 2; CLCRP2", "OMIM:219000": "FRASER SYNDROME 1; FRASRS1", "OMIM:617667": "FRASER SYNDROME 3; FRASRS3", "OMIM:617666": "FRASER SYNDROME 2; FRASRS2", "OMIM:277720": "WHISTLING FACE SYNDROME, RECESSIVE FORM", "OMIM:618348": "GALLOWAY-MOWAT SYNDROME 7; GAMOS7", "OMIM:251300": "GALLOWAY-MOWAT SYNDROME 1; GAMOS1", "OMIM:617731": "GALLOWAY-MOWAT SYNDROME 5; GAMOS5", "OMIM:618347": "GALLOWAY-MOWAT SYNDROME 6; GAMOS6", "OMIM:301006": "GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2", "OMIM:618349": "GALLOWAY-MOWAT SYNDROME 8; GAMOS8", "OMIM:617729": "GALLOWAY-MOWAT SYNDROME 3; GAMOS3", "OMIM:617730": "GALLOWAY-MOWAT SYNDROME 4; GAMOS4", "OMIM:161400": "NARCOLEPSY 1; NRCLP1", "OMIM:614250": "NARCOLEPSY 7; NRCLP7", "OMIM:609039": "NARCOLEPSY 3; NRCLP3", "OMIM:609508": "STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR", "OMIM:215600": "CIRRHOSIS, FAMILIAL", "OMIM:617008": "CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3", "OMIM:612900": "CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2", "OMIM:613926": "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; MLC2B", "OMIM:234820": "HEMANGIOPERICYTOMA, MALIGNANT", "OMIM:219800": "CYSTINOSIS, NEPHROPATHIC; CTNS", "OMIM:104290": "ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1", "OMIM:614820": "ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2", "ORPHA:163721": "Rolandic epilepsy-speech dyspraxia syndrome", "OMIM:612923": "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3", "OMIM:612925": "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5", "OMIM:612924": "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4", "OMIM:612922": "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2", "OMIM:612926": "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6", "OMIM:235400": "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1", "OMIM:618154": "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3", "OMIM:235510": "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1; HKLLS1", "OMIM:616006": "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2", "OMIM:222400": "DIAPHRAGMATIC HERNIA 2; DIH2", "ORPHA:163727": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome/Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp / Rolandic epilepsy exercise-induced dystonia", "OMIM:608105": "EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC", "OMIM:306950": "DIAPHRAGMATIC HERNIA 5, X-LINKED; DIH5", "OMIM:610187": "DIAPHRAGMATIC HERNIA 3; DIH3", "OMIM:615544": "PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6", "OMIM:617201": "PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7", "OMIM:300049": "PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1", "OMIM:608097": "PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM", "OMIM:613830": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D", "OMIM:610427": "CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD", "ORPHA:163746": "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease/Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease / Neurologic Waardenburg-Shah syndrome / PCWH / WS4 plus", "OMIM:609136": "PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH", "OMIM:257270": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B", "OMIM:615058": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F", "OMIM:163500": "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2", "OMIM:617024": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H; CSNB1H", "OMIM:614565": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E; CSNB1E", "OMIM:610444": "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3", "OMIM:310500": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A", "OMIM:610445": "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1", "OMIM:300071": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A", "OMIM:613216": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C", "OMIM:616389": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G; CSNB1G", "OMIM:147250": "SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI", "OMIM:142946": "HOLOPROSENCEPHALY 4; HPE4", "OMIM:610828": "HOLOPROSENCEPHALY 7; HPE7", "OMIM:609637": "HOLOPROSENCEPHALY 5; HPE5", "OMIM:610829": "HOLOPROSENCEPHALY 9; HPE9", "OMIM:157170": "HOLOPROSENCEPHALY 2; HPE2", "OMIM:142945": "HOLOPROSENCEPHALY 3; HPE3", "OMIM:614226": "HOLOPROSENCEPHALY 11; HPE11", "OMIM:610915": "OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8", "OMIM:610682": "OSTEOGENESIS IMPERFECTA, TYPE VII; OI7", "OMIM:259440": "OSTEOGENESIS IMPERFECTA, TYPE IX; OI9", "OMIM:613848": "OSTEOGENESIS IMPERFECTA, TYPE X; OI10", "OMIM:614856": "OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13", "OMIM:616229": "OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16", "OMIM:610968": "OSTEOGENESIS IMPERFECTA, TYPE XI; OI11", "OMIM:615220": "OSTEOGENESIS IMPERFECTA, TYPE XV; OI15", "OMIM:613982": "OSTEOGENESIS IMPERFECTA, TYPE VI; OI6", "OMIM:615066": "OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14", "OMIM:613849": "OSTEOGENESIS IMPERFECTA, TYPE XII; OI12", "OMIM:616507": "OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17", "OMIM:610913": "SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2", "OMIM:610476": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11", "OMIM:615616": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13", "OMIM:604401": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; ARVD6", "OMIM:607450": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8", "OMIM:604400": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5", "OMIM:609040": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9", "OMIM:611528": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12", "OMIM:602086": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3", "OMIM:610193": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10", "OMIM:602087": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4", "OMIM:615219": "HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2", "OMIM:236680": "HYDROLETHALUS SYNDROME 1; HLS1", "OMIM:614120": "HYDROLETHALUS SYNDROME 2; HLS2", "OMIM:143870": "HYPERCALCIURIA, ABSORPTIVE, 2; HCA2", "ORPHA:101004": "Autosomal recessive spastic paraplegia type 24/Spastic paraplegia 24, autosomal recessive / SPG24", "OMIM:607584": "SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24", "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; XPF", "OMIM:278730": "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD", "OMIM:610651": "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB", "OMIM:238710": "HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA", "OMIM:615083": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12", "OMIM:612591": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10", "OMIM:614464": "JOUBERT SYNDROME 15; JBTS15", "OMIM:614970": "JOUBERT SYNDROME 20; JBTS20", "OMIM:617121": "JOUBERT SYNDROME 28; JBTS28", "OMIM:608629": "JOUBERT SYNDROME 3; JBTS3", "OMIM:614424": "JOUBERT SYNDROME 14; JBTS14", "OMIM:611560": "JOUBERT SYNDROME 7; JBTS7", "OMIM:603284": "CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2", "OMIM:603285": "CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3", "OMIM:614325": "PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2", "OMIM:145700": "HYPERTRICHOSIS LANUGINOSA CONGENITA", "OMIM:304800": "DIABETES INSIPIDUS, NEPHROGENIC, 1, X-LINKED; NDI1", "OMIM:125800": "DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL; NDI2", "OMIM:615361": "HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2", "OMIM:213000": "CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY; CHEGDD", "OMIM:614435": "HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2", "OMIM:136520": "FOVEAL HYPOPLASIA 1; FVH1", "OMIM:614678": "PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B", "OMIM:616081": "PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C", "OMIM:607596": "PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A", "OMIM:242860": "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1", "OMIM:616910": "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3", "OMIM:614069": "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2", "OMIM:616911": "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4", "OMIM:114480": "BREAST CANCER", "OMIM:606346": "DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22", "OMIM:612956": "VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2", "OMIM:613443": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE; NEDHSIL", "OMIM:264050": "PRENATAL BOWING", "OMIM:615214": "AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7", "OMIM:616941": "AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT; AGM8A", "OMIM:613500": "AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2", "OMIM:613501": "AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3", "OMIM:300310": "IMMUNODEFICIENCY 61; IMD61", "OMIM:613506": "AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5", "OMIM:612692": "AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6", "OMIM:613502": "AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4", "OMIM:300048": "INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; CIIPX", "OMIM:167210": "PACHYONYCHIA CONGENITA 2; PC2", "OMIM:167200": "PACHYONYCHIA CONGENITA 1; PC1", "OMIM:615728": "PACHYONYCHIA CONGENITA 4; PC4", "OMIM:615726": "PACHYONYCHIA CONGENITA 3; PC3", "OMIM:608681": "SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2", "OMIM:616566": "SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6", "OMIM:613686": "SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4", "OMIM:277300": "SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1", "OMIM:609813": "SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3", "OMIM:613325": "RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2", "OMIM:609322": "RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1", "OMIM:608542": "ANEURYSM, INTRACRANIAL BERRY, 2; ANIB2", "ORPHA:163934": "Atopic keratoconjunctivitis", "OMIM:609122": "ANEURYSM, INTRACRANIAL BERRY, 3; ANIB3", "OMIM:601067": "USHER SYNDROME, TYPE ID; USH1D", "OMIM:276900": "USHER SYNDROME, TYPE I; USH1", "OMIM:614990": "USHER SYNDROME, TYPE IK; USH1K", "OMIM:614869": "USHER SYNDROME, TYPE IJ; USH1J", "OMIM:276904": "USHER SYNDROME, TYPE IC; USH1C", "ORPHA:163937": "X-linked intellectual disability, Najm type/Mental retardation and microcephaly with pontine and cerebellar hypoplasia / MICPCH / X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome", "OMIM:300749": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH", "OMIM:606943": "USHER SYNDROME, TYPE IG; USH1G", "OMIM:602083": "USHER SYNDROME, TYPE IF; USH1F", "OMIM:602097": "USHER SYNDROME, TYPE IE; USH1E", "OMIM:611383": "USHER SYNDROME, TYPE IID; USH2D", "OMIM:276901": "USHER SYNDROME, TYPE IIA; USH2A", "OMIM:605472": "USHER SYNDROME, TYPE IIC; USH2C", "OMIM:276902": "USHER SYNDROME, TYPE IIIA; USH3A", "OMIM:614504": "USHER SYNDROME, TYPE IIIB; USH3B", "ORPHA:163956": "X-linked intellectual disability, Nascimento type/Mental retardation, X-linked, syndromic, Nascimento type / X-linked intellectual disability-nail dystrophy-seizures syndrome", "OMIM:300860": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN", "OMIM:613985": "BETA-THALASSEMIA", "OMIM:141749": "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1", "OMIM:614073": "HERMANSKY-PUDLAK SYNDROME 4; HPS4", "OMIM:203300": "HERMANSKY-PUDLAK SYNDROME 1; HPS1", "OMIM:614074": "HERMANSKY-PUDLAK SYNDROME 5; HPS5", "OMIM:614075": "HERMANSKY-PUDLAK SYNDROME 6; HPS6", "OMIM:614072": "HERMANSKY-PUDLAK SYNDROME 3; HPS3", "OMIM:300123": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM", "OMIM:614465": "JOUBERT SYNDROME 16; JBTS16", "OMIM:614844": "NEPHRONOPHTHISIS 14; NPHP14", "ORPHA:163961": "X-linked cerebral-cerebellar-coloboma syndrome / X-linked intellectual disability, Kroes type", "OMIM:608091": "JOUBERT SYNDROME 2; JBTS2", "OMIM:610188": "JOUBERT SYNDROME 5; JBTS5", "OMIM:612285": "JOUBERT SYNDROME 9; JBTS9", "OMIM:300867": "KABUKI SYNDROME 2; KABUK2", "OMIM:604356": "DUANE RETRACTION SYNDROME 2; DURS2", "OMIM:617041": "DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3", "OMIM:604093": "KERATOSIS PILARIS ATROPHICANS; KPA", "OMIM:308800": "KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX", "OMIM:612843": "KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD", "OMIM:600775": "CRANIOSYNOSTOSIS 4; CRS4", "ORPHA:166032": "Multiple epiphyseal dysplasia-miniepiphyses syndrome", "ORPHA:166029": "Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome", "ORPHA:166038": "Metaphyseal chondrodysplasia, Kaitila type", "ORPHA:166068": "Pontocerebellar hypoplasia type 5 / Fetal-onset olivopontocerebellar hypoplasia / PCH5", "ORPHA:166078": "Von Willebrand disease type 1", "ORPHA:206": "NON RARE IN EUROPE: Crohn disease", "ORPHA:166073": "Pontocerebellar hypoplasia type 6 / Fatal infantile encephalopathy with mitochondrial respiratory chain defects / PCH6", "ORPHA:166084": "Von Willebrand disease type 2A", "ORPHA:166081": "Von Willebrand disease type 2", "ORPHA:166090": "Von Willebrand disease type 2M", "ORPHA:166087": "Von Willebrand disease type 2B", "ORPHA:166093": "Von Willebrand disease type 2N", "ORPHA:166096": "Von Willebrand disease type 3", "ORPHA:166105": "FASTKD2-related infantile mitochondrial encephalomyopathy", "ORPHA:487": "Krabbe disease / GALC deficiency / Galactocerebrosidase deficiency / Galactosylceramidase deficiency / Globoid cell leukodystrophy", "ORPHA:166260": "Dentinogenesis imperfecta type 2 / Capdepont teeth / DGI-2 / DI-2 / Dentinogenesis imperfecta, Shields type 2", "ORPHA:166265": "Dentinogenesis imperfecta type 3 / Dentinogenesis imperfecta, Shields type 3", "ORPHA:166282": "Familial sick sinus syndrome", "ORPHA:166286": "Porokeratotic eccrine ostial and dermal duct nevus / Comedo nevus of the palm / Porokeratotic eccrine nevus", "ORPHA:166291": "Dirofilariasis", "ORPHA:166295": "Benign non-familial infantile seizures", "ORPHA:771": "NON RARE IN EUROPE: Ulcerative colitis / NON RARE IN EUROPE: Ulcerative proctitis / NON RARE IN EUROPE: Ulcerative proctosigmoiditis", "ORPHA:166308": "Benign infantile focal epilepsy with midline spikes and waves during sleep / BIMSE", "ORPHA:166305": "Benign infantile seizures associated with mild gastroenteritis", "ORPHA:2912": "Poliomyelitis", "ORPHA:166302": "Benign partial epilepsy with secondarily generalized seizures in infancy", "ORPHA:166299": "Benign partial epilepsy of infancy with complex partial seizures", "ORPHA:166409": "Photosensitive epilepsy", "ORPHA:166311": "Benign partial infantile seizures", "ORPHA:166421": "Orgasm-induced seizures", "ORPHA:856": "NON RARE IN EUROPE: Tourette syndrome / NON RARE IN EUROPE: GTS / NON RARE IN EUROPE: Gilles de la Tourette syndrome / NON RARE IN EUROPE: Tourette disease", "ORPHA:166418": "Eating reflex epilepsy / Eating epilepsy / Eating seizures", "ORPHA:166415": "Audiogenic seizures", "ORPHA:825": "NON RARE IN EUROPE: Ankylosing spondylitis / NON RARE IN EUROPE: Ankylosing spondylarthritis / NON RARE IN EUROPE: Bechterew syndrome", "ORPHA:166412": "Hot water reflex epilepsy", "ORPHA:166433": "Reading seizures", "ORPHA:166430": "Micturation-induced seizures", "ORPHA:166427": "Startle epilepsy", "ORPHA:166424": "Thinking seizures", "ORPHA:166466": "Neurocutaneous syndrome with epilepsy", "ORPHA:166469": "Chromosomal anomaly with epilepsy as a major feature", "ORPHA:166457": "OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis", "ORPHA:166463": "Epilepsy syndrome", "ORPHA:166478": "Cerebral malformation with epilepsy", "ORPHA:166481": "Metabolic diseases with epilepsy", "ORPHA:166472": "Monogenic disease with epilepsy", "ORPHA:166475": "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes", "ORPHA:166490": "Infectious disease with epilepsy", "ORPHA:166484": "Inflammatory and autoimmune disease with epilepsy", "ORPHA:166487": "Cerebral diseases of vascular origin with epilepsy", "ORPHA:163898": "OBSOLETE: Classic paraneoplastic limbic encephalitis / OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens", "ORPHA:593": "Myofibrillar myopathy / MFM", "ORPHA:163895": "OBSOLETE: Paraneoplastic limbic encephalitis", "ORPHA:163908": "OBSOLETE: Limbic encephalitis with LGI1 antibodies / OBSOLETE: Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies", "ORPHA:163903": "OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens", "ORPHA:607": "Nemaline myopathy / NEM / NM / Nemaline rod myopathy", "ORPHA:163892": "OBSOLETE: Limbic encephalitis", "ORPHA:163931": "Acrodermatitis continua of Hallopeau", "ORPHA:163927": "Pustulosis palmaris et plantaris / Localized pustular psoriasis / PPP / Palmoplantar pustulosis", "ORPHA:163918": "OBSOLETE: Non-paraneoplastic limbic encephalitis", "ORPHA:163914": "OBSOLETE: Limbic encephalitis with nCMAgs antibodies / OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies", "ORPHA:163924": "OBSOLETE: Non-herpetic acute limbic encephalitis", "ORPHA:163921": "Posttransplant acute limbic encephalitis / PALE", "ORPHA:163953": "X-linked intellectual disability, Raymond type", "ORPHA:164004": "Middle and/or inner ear anomaly", "ORPHA:164726": "Acute myeloid leukemia and myelodysplastic syndromes related to radiation / AML and myelodysplastic syndromes related to radiation", "ORPHA:163982": "X-linked intellectual disability-spastic quadriparesis syndrome", "ORPHA:163988": "OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type", "ORPHA:164001": "Rare odontal or periodontal disorder", "ORPHA:165661": "Genetic pancreatic disease", "ORPHA:165658": "Genetic gastro-esophageal disease", "ORPHA:165655": "Genetic intestinal disease", "ORPHA:165652": "Rare genetic gastroenterological disease", "ORPHA:164823": "Rare acquired aplastic anemia", "ORPHA:164736": "Familial advanced sleep-phase syndrome / FASPS", "ORPHA:165805": "Familial mesial temporal lobe epilepsy with febrile seizures", "ORPHA:165711": "Rare abdominal surgical disease", "ORPHA:802": "NON RARE IN EUROPE: Multiple sclerosis", "ORPHA:165707": "Syndromic urogenital tract malformation", "ORPHA:165704": "Non-syndromic urogenital tract malformation", "ORPHA:165961": "OBSOLETE: Subcutaneous myiasis", "ORPHA:165955": "Wound myiasis / Traumatic myiasis", "ORPHA:165958": "Cavitary myiasis", "ORPHA:165994": "Pituitary resistance to thyroid hormone / PRTH / Selective pituitary resistance to thyroid hormone", "ORPHA:536": "Systemic lupus erythematosus / Disseminated lupus erythematosus / SLE", "ORPHA:165988": "Diazoxide-resistant diffuse hyperinsulinism / Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form", "ORPHA:165991": "Exercise-induced hyperinsulinism / EIHI / Exercise-induced hyperinsulinemic hypoglycemia / Hyperinsulinism due to SLC16A1 deficiency / Hyperinsulinism due to monocarboxylate transporter 1 deficiency", "ORPHA:165985": "Diazoxide-sensitive diffuse hyperinsulinism / Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form", "ORPHA:293181": "MPSI / Epilepsy of infancy with migrating focal seizures / EIMFS / Epilepsy with migrating focal seizure in infancy / MMPEI / MMPSI / Malignant migrating partial epilepsy of infancy / Malignant migrating partial seizures of infancy / Migrating partial epilepsy of infancy / Migrating partial seizures of infancy", "ORPHA:163209": "Non-syndromic cerebral malformation due to abnormal neuronal migration / Brain malformation due to abnormal neuronal migration", "ORPHA:163528": "OBSOLETE: Acute cutaneous lupus erythematosus", "ORPHA:383": "X-linked mixed deafness with perilymphatic gusher / Conductive deafness with stapes fixation / DFNX2 / Nance deafness / X-linked deafness type 2 / X-linked mixed conductive and neurosensory deafness / X-linked mixed conductive and neurosensory hearing loss / X-linked mixed conductive and sensorineural deafness / X-linked mixed conductive and sensorineural hearing loss / X-linked stapes gusher syndrome", "ORPHA:163525": "Subacute cutaneous lupus erythematosus", "ORPHA:163582": "Rare bacterial infectious disease", "ORPHA:163531": "Chronic cutaneous lupus erythematosus", "ORPHA:162521": "OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly / OBSOLETE: Apertura pyriformis with holoprosencephaly", "ORPHA:162516": "Isolated congenital nasal pyriform aperture stenosis / Isolated apertura pyriformis stenosis / Isolated nasal pyriform aperture hypoplasia", "ORPHA:162526": "Isolated congenital auditory ossicle malformation / Congenital auditory ossicle malformation without external ear abnormality", "ORPHA:163668": "Spondyloepiphyseal dysplasia, MacDermot type / Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome / Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome", "ORPHA:163673": "Spondyloepiphyseal dysplasia, Byers type / Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome", "ORPHA:163662": "Spondyloepiphyseal dysplasia, Reardon type", "ORPHA:163591": "Rare mycosis", "ORPHA:163585": "Rare viral disease", "ORPHA:163588": "Rare parasitic disease", "ORPHA:163637": "Rare disorder related with pregnancy, childbirth and puerperium", "ORPHA:163631": "Bile acid synthesis defect with cholestasis and malabsorption", "ORPHA:163717": "Benign familial mesial temporal lobe epilepsy / Benign FMTLE", "ORPHA:163708": "Cryptogenic late-onset epileptic spasms / Late-onset infantile spasms", "ORPHA:163684": "Leukoencephalopathy-dystonia-motor neuropathy syndrome", "ORPHA:163678": "OBSOLETE: Unclassified spondylometaphyseal dysplasia", "ORPHA:163699": "Alveolar soft tissue sarcoma / ASPS / Alveolar soft part sarcoma", "ORPHA:163696": "Action myoclonus-renal failure syndrome / AMRF / EPM4 / Myoclonus-nephropathy syndrome / Progressive myoclonic epilepsy type 4 / Progressive myoclonus epilepsy type 4", "ORPHA:3444": "Watson syndrome / Pulmonic stenosis with 'café-au-lait' spots", "ORPHA:3140": "NON RARE IN EUROPE: Schizophrenia", "ORPHA:706": "NON RARE IN EUROPE: Patent arterial duct / NON RARE IN EUROPE: Patent ductus arteriosus / NON RARE IN EUROPE: Persistent patency of the arterial duct", "ORPHA:862": "NON RARE IN EUROPE: Hereditary essential tremor", "ORPHA:645749": "CES / Congenital esophageal stenosis / Congenital oesophageal stenosis", "ORPHA:169808": "Mild hemophilia A / Mild congenital F8 deficiency / Mild congenital factor VIII deficiency", "ORPHA:169826": "Congenital vitamin K-dependent coagulation factors deficiency", "ORPHA:169802": "Severe hemophilia A / Severe congenital F8 deficiency / Severe congenital factor VIII deficiency", "ORPHA:169805": "Moderate hemophilia A / Moderate congenital F8 deficiency / Moderate congenital factor VIII deficiency", "ORPHA:2443": "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies / Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies / OXPHOS disease due to nDNA anomalies / OXPHOS disease due to nuclear DNA anomalies", "ORPHA:555": "NON RARE IN EUROPE: Celiac disease / NON RARE IN EUROPE: Celiac sprue / NON RARE IN EUROPE: Coeliac disease / NON RARE IN EUROPE: Coeliac sprue / NON RARE IN EUROPE: Gluten intolerance / NON RARE IN EUROPE: Gluten-induced enteropathy / NON RARE IN EUROPE: Gluten-sensitive enteropathy / NON RARE IN EUROPE: Idiopathic steatorrhea / NON RARE IN EUROPE: Nontropical sprue", "ORPHA:1247": "Schistosomiasis / Bilharziasis", "ORPHA:169446": "OBSOLETE: Autosomal recessive hyper-IgE syndrome / OBSOLETE: AR-HIES / OBSOLETE: Autosomal recessive HIES / OBSOLETE: Hyperimmunoglobulin E syndrome type 2 / OBSOLETE: Non-skeletal hyper-IgE syndrome", "ORPHA:169443": "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells", "ORPHA:169464": "Primary CD59 deficiency", "ORPHA:169618": "NON RARE IN EUROPE: Secondary central precocious puberty", "ORPHA:169615": "NON RARE IN EUROPE: Idiopathic central precocious puberty", "ORPHA:169467": "Recurrent Neisseria infections due to factor D deficiency", "ORPHA:169799": "Mild hemophilia B / Mild congenital F9 deficiency / Mild congenital factor IX deficiency", "ORPHA:169796": "Moderate hemophilia B / Moderate congenital F9 deficiency / Moderate congenital factor IX deficiency", "ORPHA:169793": "Severe hemophilia B / Severe congenital F9 deficiency / Severe congenital factor IX deficiency", "ORPHA:406": "NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia / NON RARE IN EUROPE: HeFH", "ORPHA:171220": "Rectal duplication", "ORPHA:171445": "Muscle filaminopathy / FLNC-associated myofibrillar myopathy / Filamin C-related filaminopathy / MFM5", "ORPHA:106": "NON RARE IN EUROPE: Autism", "ORPHA:357": "NON RARE IN EUROPE: Gilbert syndrome / NON RARE IN EUROPE: Familial cholemia / NON RARE IN EUROPE: Hyperbilirubinemia type 1", "ORPHA:171201": "OBSOLETE: High isolated anorectal malformation", "ORPHA:930": "Idiopathic achalasia / Achalasia cardia / Idiopathic achalasia of esophagus / Primary achalasia", "ORPHA:171215": "OBSOLETE: Low isolated anorectal malformation", "ORPHA:171208": "OBSOLETE: Intermediate isolated anorectal malformation", "ORPHA:168999": "Malignant melanoma of the mucosa", "ORPHA:168972": "Kahrizi syndrome / Intellectual disability, Kahrizi type / Intellectual disability-cataract-coloboma-kyphosis syndrome", "ORPHA:169110": "Immunoglobulin heavy chain deficiency", "ORPHA:169100": "Immunodeficiency due to CD25 deficiency / Interleukin-2 receptor alpha chain deficiency", "ORPHA:169082": "Combined immunodeficiency due to CD3gamma deficiency", "ORPHA:169085": "Susceptibility to respiratory infections associated with CD8alpha chain mutation / Familial CD8 deficiency", "ORPHA:168807": "Primary malignant peritoneal tumor", "ORPHA:168803": "Primary peritoneal tumor", "ORPHA:168966": "Composite lymphoma / Composite Hodgkin and non-Hodgkin lymphoma", "ORPHA:168960": "Refractory anemia with excess blasts in transformation / RAEB-t", "ORPHA:168956": "Hypereosinophilic syndrome / HES", "ORPHA:168953": "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement / 8p11 myeloproliferative syndrome / Stem cell leukemia/lymphoma", "ORPHA:168950": "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement", "ORPHA:168947": "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement", "ORPHA:168943": "Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2", "ORPHA:168940": "Chronic eosinophilic leukemia", "ORPHA:169361": "Immune dysregulation disease with immunodeficiency", "ORPHA:169150": "Immunodeficiency due to a late component of complement deficiency / Immunodeficiency due to C5 to C9 component complement deficiency / Terminal complement pathway deficiency", "ORPHA:169157": "T-B+ severe combined immunodeficiency due to CD45 deficiency / T-B+ SCID due to CD45 deficiency", "ORPHA:169139": "Transient hypogammaglobulinemia of infancy", "ORPHA:169147": "Immunodeficiency due to a classical component pathway complement deficiency / Immunodeficiency due to C1, C4, or C2 component complement deficiency / Immunodeficiency due to an early component of complement deficiency", "ORPHA:169142": "Recurrent infections due to specific granule deficiency / Neutrophil-specific granule deficiency", "ORPHA:169349": "Immuno-osseous dysplasia", "ORPHA:169346": "DNA repair defect other than combined T-cell and B-cell immunodeficiencies", "ORPHA:169355": "Immunodeficiency syndrome with autoimmunity", "ORPHA:169163": "Familial scaphocephaly syndrome", "ORPHA:484": "NON RARE IN EUROPE: Klinefelter syndrome / NON RARE IN EUROPE: 47,XXY syndrome", "ORPHA:3084": "Mirhosseini-Holmes-Walton syndrome / Pigmentary retinopathy-intellectual disability syndrome", "ORPHA:168194": "Rare cardiac tumor", "ORPHA:924": "NON RARE IN EUROPE: Acanthosis nigricans", "ORPHA:168615": "Hereditary persistence of alpha-fetoprotein", "ORPHA:168612": "Congenital deficiency in alpha-fetoprotein", "ORPHA:1442": "Ring chromosome 18 syndrome / Ring 18", "ORPHA:168621": "Dysplasia of head of femur, Meyer type / DECF / Dysplasia epiphysealis capitis femoris / Meyer dysplasia", "ORPHA:168629": "Autosomal thrombocytopenia with normal platelets", "ORPHA:168778": "Rare pervasive developmental disorder / Rare ASD / Rare PDD / Rare autism spectrum disorder", "ORPHA:200": "Isolated corpus callosum agenesis", "ORPHA:168632": "Generalized basaloid follicular hamartoma syndrome", "ORPHA:168583": "Hereditary North American Indian childhood cirrhosis", "ORPHA:168588": "Hyperandrogenism due to cortisone reductase deficiency / 11-beta-hydroxysteroid dehydrogenase deficiency type 1", "ORPHA:168601": "Congenital enteropathy due to enteropeptidase deficiency / Congenital enterokinase deficiency", "ORPHA:168598": "Methionine adenosyltransferase I/III deficiency / MAT I/III deficiency / Mudd's disease", "ORPHA:1417": "OBSOLETE: Platyspondylic lethal chondrodysplasia / OBSOLETE: Akaba-Hayasaka syndrome", "ORPHA:168609": "Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure / Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure / Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure / Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure / Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure / Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure / Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure / Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure", "ORPHA:168606": "Seborrhea-like dermatitis with psoriasiform elements", "ORPHA:1155": "OBSOLETE: Arthrogryposis due to muscular dystrophy", "ORPHA:168552": "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome", "ORPHA:1162": "NON RARE IN EUROPE: Asperger syndrome", "ORPHA:1232": "NON RARE IN EUROPE: Barrett esophagus", "ORPHA:168566": "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 / Fatal mitochondrial disease due to COXPD3", "ORPHA:168443": "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome", "ORPHA:168448": "Spondyloepimetaphyseal dysplasia, Bieganski type", "ORPHA:168451": "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome / SEMDAD", "ORPHA:168454": "Spondyloepimetaphyseal dysplasia, Geneviève type / SEMD, Geneviève type / SEMDG", "ORPHA:168544": "Spondylometaphyseal dysplasia, Golden type / X-linked spondylometaphyseal dysplasia", "ORPHA:1819": "OBSOLETE: Epimetaphyseal skeletal dysplasia", "ORPHA:167762": "Rare disease with dentinogenesis imperfecta", "ORPHA:167759": "Hereditary dentin defect", "ORPHA:167714": "Unclassified acute myeloid leukemia / Unclassified AML", "ORPHA:167635": "Scleromyxedema / Arndt-Gottron disease / Generalized lichenoid papular eruption / Generalized papular and sclerodermoid lichen myxedematosus", "ORPHA:166775": "Rare hemorrhagic disorder due to an acquired coagulation factor defect / Rare bleeding disorder due to an acquired coagulation factor defect / Rare coagulopathy due to an acquired coagulation factor defect", "ORPHA:1564": "Dandy-Walker malformation-facial hemangioma syndrome", "ORPHA:2113": "Congenital hypothalamic hamartoma syndrome / CHHS", "ORPHA:167848": "Rare cardiomyopathy", "ORPHA:141132": "Goldenhar syndrome / Oculo-auriculo-vertebral spectrum / OAV spectrum / Oculoauriculovertebral spectrum", "ORPHA:374": "Facioauriculovertebral sequence", "ORPHA:2005": "OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome / OBSOLETE: Novak syndrome", "ORPHA:1851": "Multicystic dysplastic kidney / MCDK / Multicystic renal dysplasia", "ORPHA:180312": "Rare vulvovaginal tumor", "ORPHA:180303": "Rare non-malformative uterine adnexal disease", "ORPHA:180779": "Syndromic diaphragmatic or thoracic malformation", "ORPHA:2870": "NON RARE IN EUROPE: Peyronie syndrome / NON RARE IN EUROPE: Induratio penis plastica / NON RARE IN EUROPE: Plastic induration of penis", "ORPHA:180776": "Non-syndromic diaphragmatic or thoracic malformation", "ORPHA:180772": "Rare disease with autism", "ORPHA:180766": "Malformative syndrome with dentinogenesis imperfecta", "ORPHA:180821": "Rare gastroesophageal tumor", "ORPHA:180824": "Rare tumor of pancreas / Rare pancreatic tumor", "ORPHA:717": "OBSOLETE: Catecholamine-producing tumor", "ORPHA:181387": "Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism", "ORPHA:181390": "Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature", "ORPHA:181381": "Other rare diabetes mellitus", "ORPHA:181384": "Rare hypothalamic or pituitary disease", "ORPHA:181371": "Rare diabetes mellitus type 1 / Rare insulin-dependent diabetes mellitus", "ORPHA:181376": "Rare diabetes mellitus type 2 / Rare insulin-independent diabetes mellitus", "ORPHA:2982": "46,XX difference of sex development / 46,XX DSD / 46,XX disorder of sex development", "ORPHA:181368": "Rare insulin-resistance syndrome", "ORPHA:2981": "Pseudo-Zellweger syndrome / Thiolase deficiency", "ORPHA:180202": "Rare non-malformative breast disease", "ORPHA:180199": "Rare non-malformative gynecologic or obstetric disease", "ORPHA:180208": "Anomaly of puberty or/and menstrual cycle", "ORPHA:180205": "Rare non-malformative uterovaginal or vulvovaginal disease", "ORPHA:180188": "Isolated congenital breast hypoplasia/aplasia / Isolated congenital amastia", "ORPHA:180182": "Supernumerary breasts / Accessory breasts / Polymastia", "ORPHA:180193": "Syndromic breast hypoplasia/aplasia", "ORPHA:180226": "Embryonal carcinoma", "ORPHA:2343": "OBSOLETE: Isolated cloverleaf skull syndrome", "ORPHA:180220": "Rare uterine adnexal tumor", "ORPHA:180247": "Vaginal carcinoma / Vaginal malignant epithelial tumor", "ORPHA:180250": "Rare breast tumor", "ORPHA:180253": "Rare benign breast tumor", "ORPHA:180234": "Mixed germ cell tumor", "ORPHA:180237": "Benign tumor of fallopian tubes", "ORPHA:180242": "Malignant tumor of fallopian tubes / Cancer of fallopian tubes / Malignant tubal tumor / Tubal cancer", "ORPHA:180275": "Paget disease of the nipple / Mammary Paget disease / Paget disease of the breast / Paget's disease of the nipple", "ORPHA:180284": "NON RARE IN EUROPE: Benign ductal tumor of breast", "ORPHA:180257": "Rare malignant breast tumor / Rare breast cancer", "ORPHA:180261": "Phyllodes tumor of the breast", "ORPHA:2431": "Central bilateral macrogyria", "ORPHA:180267": "Giant adenofibroma of the breast", "ORPHA:612": "Potassium-aggravated myotonia / K+-aggravated myotonia / K-aggravated myotonia / PAM", "ORPHA:179490": "Obesity due to congenital leptin resistance", "ORPHA:180071": "Unilateral aplasia of the Müllerian ducts / Unicornuate uterus", "ORPHA:180068": "Partial bilateral aplasia of the Müllerian ducts / Incomplete bilateral aplasia of the Müllerian ducts", "ORPHA:180065": "Non-syndromic uterovaginal malformation", "ORPHA:180062": "Uterovaginal malformation", "ORPHA:180106": "Bicervical bicornuate uterus and blind hemivagina", "ORPHA:180086": "Didelphys uterus / Bicervical bicornuate uterus", "ORPHA:180079": "Pseudounicornuate uterus / Incomplete unilateral Müllerian aplasia / Incomplete unilateral aplasia of the Müllerian ducts / Unicornuate uterus with rudimentary horn", "ORPHA:180074": "True unicornuate uterus / Complete unilateral Müllerian aplasia / Complete unilateral aplasia of the Müllerian ducts / Unicornuate uterus without rudimentary horn", "ORPHA:180122": "Septate uterus", "ORPHA:180118": "NON RARE IN EUROPE: Cordiform uterus / NON RARE IN EUROPE: Uterus arcuatus / NON RARE IN EUROPE: Uterus cordiformis", "ORPHA:180114": "Unicervical bicornuate uterus", "ORPHA:180111": "Bicervical bicornuate uterus with patent cervix and vagina", "ORPHA:180134": "Bicornuate uterus", "ORPHA:180139": "Uterine hypoplasia", "ORPHA:180126": "Complete septate uterus / Total septate uterus", "ORPHA:180129": "Partial septate uterus / Subtotal septate uterus / Uterus subseptus", "ORPHA:180148": "Syndromic uterovaginal malformation", "ORPHA:180151": "Rare vaginal malformation", "ORPHA:180142": "Absence of uterine body", "ORPHA:180145": "Uterine cervical aplasia and agenesis", "ORPHA:180160": "Transverse vaginal septum", "ORPHA:180163": "Rare breast malformation", "ORPHA:180154": "Septate vagina", "ORPHA:69": "Amyloidosis", "ORPHA:180157": "Longitudinal vaginal septum", "ORPHA:180173": "Deficient breast volume or number", "ORPHA:180176": "Familial juvenile hypertrophy of the breast / Familial juvenile gigantomastia / Virginal breast hypertrophy", "ORPHA:166": "Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy / CMT/HMSN / Charcot-Marie-Tooth hereditary neuropathy", "ORPHA:155": "NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy / NON RARE IN EUROPE: Familial isolated hypertrophic obstructive cardiomyopathy / NON RARE IN EUROPE: Familial isolated hypertrophic subaortic stenosis / NON RARE IN EUROPE: Familial or idiopathic hypertrophic subaortic stenosis / NON RARE IN EUROPE: Familila or idiopathic hypertrophic obstructive cardiomyopathy / NON RARE IN EUROPE: Hypertrophic obstructive cardiomyopathy / NON RARE IN EUROPE: Primitive hypertrophic obstructive cardiomyopathy / NON RARE IN EUROPE: Primitive hypertrophic subaortic stenosis", "ORPHA:180170": "Excess breast volume or number", "ORPHA:178551": "Aggressive primary cutaneous T-cell lymphoma", "ORPHA:178548": "Indolent primary cutaneous T-cell lymphoma", "ORPHA:178557": "Indolent primary cutaneous B-cell lymphoma", "ORPHA:178554": "Aggressive primary cutaneous B-cell lymphoma", "ORPHA:3135": "NON RARE IN EUROPE: Scheuermann's disease / NON RARE IN EUROPE: Scheuermann juvenile kyphosis / NON RARE IN EUROPE: Spinal osteochondrosis", "ORPHA:178563": "Primary cutaneous B-cell lymphoma", "ORPHA:178566": "Mycosis fungoides and variants", "ORPHA:178996": "Acquired neutropenia / Immunologic neutropenia", "ORPHA:179006": "Primary immunodeficiency due to a defect in adaptive immunity", "ORPHA:1245": "BIDS syndrome / Amish brittle hair syndrome / Trichothiodystrophy type D", "ORPHA:3390": "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome", "ORPHA:178469": "Autosomal dominant non-syndromic intellectual disability", "ORPHA:178461": "X-linked myopathy with postural muscle atrophy / XMPMA", "ORPHA:178396": "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation", "ORPHA:178389": "Osteopetrosis-hypogammaglobulinemia syndrome / Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia / Autosomal recessive osteopetrosis type 7", "ORPHA:178364": "Syndromic microphthalmia type 5 / MCOPS5 / Syndromic microphthalmia/anophthalmia due to OTX2 mutation", "ORPHA:715": "Glycogen storage disease due to muscle phosphorylase kinase deficiency / GSD due to muscle phosphorylase kinase deficiency / GSD type 9D / GSD type 9E / GSD type IXd / GSD type IXe / Glycogen storage disease type 9D / Glycogen storage disease type 9E / Glycogen storage disease type IXd / Glycogen storage disease type IXe / Glycogenosis due to muscle phosphorylase kinase deficiency / Glycogenosis type 9D / Glycogenosis type 9E / Glycogenosis type IXd / Glycogenosis type IXe", "ORPHA:178345": "Aromatase excess syndrome / AEXS / Familial hyperestrogenism / Hereditary prepubertal gynecomastia", "ORPHA:178355": "Smith-McCort dysplasia", "ORPHA:178338": "UV-sensitive syndrome", "ORPHA:3435": "NON RARE IN EUROPE: Vitiligo", "ORPHA:178342": "Inflammatory myofibroblastic tumor", "ORPHA:178544": "Primary cutaneous diffuse large B-cell lymphoma, leg type / PCDLBCL,LT", "ORPHA:178540": "Primary cutaneous follicle center lymphoma / PCFCL", "ORPHA:178536": "Primary cutaneous marginal zone B-cell lymphoma / PCMZL", "ORPHA:178533": "Primary cutaneous gamma/delta-positive T-cell lymphoma", "ORPHA:178528": "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma / Berti lymphoma / Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma", "ORPHA:178522": "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma", "ORPHA:178517": "Localized pagetoid reticulosis / Pagetoid reticulosis, Woringer-Kolopp type", "ORPHA:178512": "Folliculotropic mycosis fungoides / Mycosis fungoides-associated follicular mucinosis", "ORPHA:178506": "Brain calcification, Rajab type", "ORPHA:178503": "Dursun syndrome / Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome", "ORPHA:178493": "NON RARE IN EUROPE: Myopic macular degeneration / NON RARE IN EUROPE: Myopic maculopathy", "ORPHA:177926": "Bleeding disorder in hemophilia A carriers", "ORPHA:177929": "Bleeding disorder in hemophilia B carriers", "ORPHA:178025": "Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations", "ORPHA:685": "Hereditary spastic paraplegia / Familial spastic paraplegia / HSP / Hereditary spastic paraparesis / SPG / Strümpell-Lorrain disease", "ORPHA:177901": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1", "ORPHA:177904": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2", "ORPHA:418": "Congenital adrenal hyperplasia / CAH", "ORPHA:177907": "Prader-Willi syndrome due to translocation", "ORPHA:177910": "Prader-Willi syndrome due to imprinting mutation", "ORPHA:216": "Neuronal ceroid lipofuscinosis / CLN disease / NCL / NCL disease", "ORPHA:177101": "Rare adult hypothyroidism", "ORPHA:177107": "Syndromic hypothyroidism", "ORPHA:448": "Hemophilia", "ORPHA:304": "Epidermolysis bullosa simplex / EBS", "ORPHA:174590": "Congenital hypogonadotropic hypogonadism", "ORPHA:178320": "Acute lung injury", "ORPHA:178315": "Undifferentiated embryonal sarcoma of the liver / Embryonal sarcoma of the liver / UES / Undifferentiated sarcoma of the liver", "ORPHA:362": "NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency / NON RARE IN EUROPE: Favism / NON RARE IN EUROPE: G6PD deficiency", "ORPHA:178330": "OBSOLETE: Heinz body anemia", "ORPHA:623626": "PCD / Paraneoplastic cerebellar degeneration / Paraneoplastic cerebellar ataxia / Rapidely progressive cerebellar syndrome / Subacute cerebellar degeneration", "ORPHA:178311": "Isolated sternocostoclavicular hyperostosis / Isolated SCCH", "ORPHA:178307": "Reticulate acropigmentation of Kitamura / RAK", "ORPHA:178040": "Rare peripheral precocious puberty", "ORPHA:768": "Familial long QT syndrome / Congenital long QT syndrome / LQTS", "ORPHA:178045": "Transient congenital hypothyroidism", "ORPHA:172985": "OBSOLETE: Congenital myopathy with vacuoles", "ORPHA:2054": "OBSOLETE: Osteochondritis of tarsal/metatarsal bone", "ORPHA:172979": "OBSOLETE: Congenital myopathy with central nuclei", "ORPHA:172982": "OBSOLETE: Congenital myopathy with fiber size variation", "ORPHA:2131": "Alternating hemiplegia of childhood", "ORPHA:595337": "AHC / Adrenal hypoplasia congenita / Congenital adrenal hypoplasia / Primary adrenal hypoplasia", "ORPHA:171901": "Primary cutaneous T-cell lymphoma", "ORPHA:171915": "B-cell non-Hodgkin lymphoma / B-cell NHL", "ORPHA:171895": "Myeloid hemopathy", "ORPHA:171898": "Lymphoid hemopathy", "ORPHA:172973": "OBSOLETE: Congenital myopathy with protein accumulation", "ORPHA:249": "Fibrous dysplasia of bone", "ORPHA:172976": "Congenital myopathy with cores", "ORPHA:171918": "T-cell non-Hodgkin lymphoma / T-cell NHL", "ORPHA:171929": "Trisomy 10p syndrome", "ORPHA:187": "Citrullinemia", "ORPHA:2882": "Sitosterolemia / Phytosterolemia", "ORPHA:810": "Shigellosis", "ORPHA:2420": "Primary pulmonary lymphoma", "ORPHA:3185": "NON RARE IN EUROPE: Polycystic ovary syndrome / NON RARE IN EUROPE: PCOS / NON RARE IN EUROPE: Polycystic ovarian syndrome / NON RARE IN EUROPE: Stein-Leventhal syndrome", "ORPHA:863": "Trichinellosis / Trichinosis", "ORPHA:171700": "Diffuse panbronchiolitis", "ORPHA:984": "Pulmonary agenesis", "ORPHA:171709": "Male infertility due to globozoospermia / Male infertility due to round-headed spermatozoa / Round-headed sperm syndrome", "ORPHA:171714": "Amish infantile epilepsy syndrome / Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome", "ORPHA:1163": "Aspergillosis", "ORPHA:171723": "White sponge nevus / Hereditary mucosal leukokeratosis / White sponge nevus of Cannon", "ORPHA:3467": "Hereditary xanthinuria / Classic xanthinuria / Xanthic urolithiasis / Xanthine stone disease", "ORPHA:171673": "Limbal stem cell deficiency", "ORPHA:171676": "NON RARE IN EUROPE: Periventricular leukomalacia", "ORPHA:171684": "Idiopathic bilateral vestibulopathy", "ORPHA:171690": "Metabolic myopathy due to lactate transporter defect / Erythrocyte lactate transporter defect", "ORPHA:171860": "OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome", "ORPHA:171871": "Renal pseudohypoaldosteronism type 1 / Autosomal dominant PHA1 / Autosomal dominant pseudohypoaldosteronism type 1 / Renal PHA1", "ORPHA:2913": "Non-syndromic polydactyly", "ORPHA:795": "Rare form of salmonellosis", "ORPHA:171889": "Myopathy with hexagonally cross-linked tubular arrays", "ORPHA:171886": "Cylindrical spirals myopathy", "ORPHA:171836": "Amelogenesis imperfecta-gingival hyperplasia syndrome", "ORPHA:171848": "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome / PHARC syndrome / Peripheral neuropathy, Fiskerstrand type / Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome", "ORPHA:1304": "Brucellosis", "ORPHA:173": "Cholera", "ORPHA:1428": "OBSOLETE: Familial chondromalacia patellae", "ORPHA:200037": "Paroxysmal dystonia", "ORPHA:200418": "Immunodeficiency with factor I anomaly / Complete factor I deficiency", "ORPHA:730": "Autosomal dominant polycystic kidney disease / ADPKD", "ORPHA:200421": "Immunodeficiency with factor H anomaly", "ORPHA:199647": "Isolated encephalocele", "ORPHA:1480": "NON RARE IN EUROPE: Ventricular septal defect / NON RARE IN EUROPE: Interventricular communication / NON RARE IN EUROPE: VSD", "ORPHA:1478": "Interatrial communication / ASD / Atrial septal defect / Interauricular communication", "ORPHA:1482": "Gonococcal conjunctivitis", "ORPHA:284": "Alveolar echinococcosis / Echinococcus multilocularis infection", "ORPHA:1431": "Paroxysmal dyskinesia / Paroxysmal choreoathetosis / Paroxysmal dystonic choreoathetosis", "ORPHA:199340": "Muscular dystrophy, Selcen type", "ORPHA:199337": "Pancreatic insufficiency-anemia-hyperostosis syndrome", "ORPHA:199348": "Thiamine-responsive encephalopathy", "ORPHA:2800": "Extramammary Paget disease", "ORPHA:199326": "Isolated autosomal dominant hypomagnesemia, Glaudemans type", "ORPHA:199323": "Endophthalmitis", "ORPHA:199332": "Endocrine-cerebro-osteodysplasia syndrome / ECO syndrome", "ORPHA:199329": "Congenital myopathy, Paradas type", "ORPHA:2665": "Congenital mesoblastic nephroma", "ORPHA:1549": "NON RARE IN EUROPE: Cryptosporidiosis", "ORPHA:199633": "Non-syndromic cerebral malformation / Non-syndromic brain malformation", "ORPHA:199642": "Isolated congenital microcephaly", "ORPHA:199639": "Syndrome with corpus callosum agenesis/dysgenesis as a major feature", "ORPHA:466": "Fatal familial insomnia / FFI", "ORPHA:199630": "Isolated cerebellar vermis hypoplasia", "ORPHA:199627": "Atypical autism", "ORPHA:1249": "OBSOLETE: Binswanger disease", "ORPHA:1983": "NON RARE IN EUROPE: Chronic fatigue syndrome / NON RARE IN EUROPE: Chronic fatigue immune dysfunction syndrome / NON RARE IN EUROPE: Myalgic encephalomyelitis", "ORPHA:199293": "Congenital microgastria", "ORPHA:199282": "Harlequin syndrome / Progressive isolated segmental anhidrosis", "ORPHA:199285": "Hereditary hypercarotenemia and vitamin A deficiency", "ORPHA:2102": "GTP cyclohydrolase I deficiency / GTPCH deficiency / Hyperphenylalaninemia due to GTP cyclohydrolase deficiency", "ORPHA:199279": "Familial angiolipomatosis", "ORPHA:199260": "Calcifying aponeurotic fibroma / Juvenile aponeurotic fibromatosis / Keasby tumor", "ORPHA:199315": "Familial clubfoot with or without associated lower limb anomalies", "ORPHA:2357": "Bronchogenic cyst", "ORPHA:3020": "Ramsay Hunt syndrome / Facial nerve palsy due to VZV / Facial nerve palsy due to herpes zoster infection / Facial nerve paralysis due to VZV", "ORPHA:1531": "Craniosynostosis", "ORPHA:189424": "OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia", "ORPHA:199257": "Superficial fibromatosis", "ORPHA:2416": "Congenital primary lymphedema without systemic or visceral involvement", "ORPHA:199247": "Corticosteroid-binding globulin deficiency / Transcortin deficiency", "ORPHA:199241": "Pulmonary capillary hemangiomatosis", "ORPHA:189466": "Familial isolated hypoparathyroidism due to impaired PTH secretion", "ORPHA:780": "Rhabdomyosarcoma", "ORPHA:2806": "Subacute sclerosing leukoencephalitis / Dawson encephalitis / SSPE / Subacute inclusion body encephalitis / Subacute sclerosing panencephalitis / Van Bogaert disease / Van Bogaert encephalitis", "ORPHA:2467": "Systemic mastocytosis", "ORPHA:120": "NON RARE IN EUROPE: Pernicious anemia / NON RARE IN EUROPE: Acquired pernicious anemia / NON RARE IN EUROPE: Addison-Biermer anemia / NON RARE IN EUROPE: Addisonian anemia / NON RARE IN EUROPE: Biermer anemia / NON RARE IN EUROPE: Biermer disease / NON RARE IN EUROPE: Juvenile onset pernicious anemia", "ORPHA:1943": "Early-onset progressive encephalopathy with migrant continuous myoclonus", "ORPHA:3299": "Tetanus", "ORPHA:2302": "Asbestos intoxication / Asbestosis", "ORPHA:1329": "Complete atrioventricular septal defect / CAVC / Complete AVSD / Complete atrioventricular canal / Complete atrioventricular canal defect / Complete atrioventricular septal defect with atrial and ventricular components", "ORPHA:183763": "Rare genetic syndromic intellectual disability", "ORPHA:855": "NON RARE IN EUROPE: Hashimoto thyroiditis / NON RARE IN EUROPE: Hashimoto hypothyroidism / NON RARE IN EUROPE: Hashimoto struma", "ORPHA:183770": "Rare genetic immune disease", "ORPHA:850": "May-Hegglin thrombocytopenia / MHA / May-Hegglin anomaly / May-Hegglin syndrome", "ORPHA:183757": "Rare genetic intellectual disability", "ORPHA:1489": "Whooping cough / Pertussis", "ORPHA:2587": "Myeloperoxidase deficiency / MPO deficiency", "ORPHA:1679": "Diphtheria", "ORPHA:183672": "OBSOLETE: Common variable immunodeficiency due to TNFR deficiency / OBSOLETE: CVID due to TNFR deficiency", "ORPHA:2103": "Guillain-Barré syndrome / GBS / Guillain-Barré-Strohl syndrome", "ORPHA:183669": "Agammaglobulinemia", "ORPHA:183666": "Hyper-IgM syndrome without susceptibility to opportunistic infections / HIGM without susceptibility to opportunistic infections", "ORPHA:183663": "Hyper-IgM syndrome with susceptibility to opportunistic infections / HIGM with susceptibility to opportunistic infections", "ORPHA:2312": "Transient familial neonatal hyperbilirubinemia / Lucey-Driscoll syndrome", "ORPHA:183681": "Congenital functional phagocyte defect / Congenital functional defect of phagocyte / Constitutional functional phagocyte defect", "ORPHA:183678": "Hermansky-Pudlak syndrome due to AP-3 deficiency / Hermansky-Pudlak syndrome due to Adaptator-related protein complex 3 deficiency / Hermansky-Pudlak syndrome with neutropenia / Syndrome de Hermansky-Pudlak par déficit en adaptator-related protein complex 3", "ORPHA:449": "Hepatoblastoma", "ORPHA:183731": "Rare genetic gynecological and obstetrical diseases", "ORPHA:533": "Listeriosis / Listeria infection", "ORPHA:183716": "OBSOLETE: Other complex syndrome of primary immunodeficiency", "ORPHA:2372": "Laryngocele", "ORPHA:183710": "Genetic susceptibility to infections due to particular pathogens", "ORPHA:2810": "NON RARE IN EUROPE: Idiopathic facial palsy / NON RARE IN EUROPE: Bell palsy", "ORPHA:183734": "Genetic gynecological tumor", "ORPHA:183651": "Rare constitutional anemia", "ORPHA:183660": "Severe combined immunodeficiency / SCID", "ORPHA:183654": "Rare genetic coagulation disorder", "ORPHA:183637": "Rare genetic adrenal disease", "ORPHA:183643": "Genetic polyendocrinopathy", "ORPHA:183628": "Rare genetic hypothalamic or pituitary disease", "ORPHA:183625": "Rare genetic diabetes mellitus", "ORPHA:183634": "Rare genetic parathyroid disease and phosphocalcic metabolism disorder", "ORPHA:844": "Lown-Ganong-Levine syndrome / Atrial tachyarrhythmia with short PR interval / LGL syndrome", "ORPHA:183631": "Rare genetic thyroid disease", "ORPHA:183616": "Genetic neuro-ophthalmological disease", "ORPHA:183622": "Genetic respiratory malformation", "ORPHA:183619": "Genetic eye tumor", "ORPHA:183601": "OBSOLETE: Rare genetic refraction anomaly", "ORPHA:183604": "OBSOLETE: Rare genetic glaucoma", "ORPHA:183607": "Genetic lens and zonula anomaly", "ORPHA:183589": "Genetic thrombotic microangiopathy", "ORPHA:183592": "Genetic renal tubular disease", "ORPHA:183595": "Genetic renal tumor", "ORPHA:183598": "OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease", "ORPHA:183576": "Genetic branchial arch or oral-acral syndrome", "ORPHA:183580": "Genetic malformation syndrome with odontal and/or periodontal component", "ORPHA:183583": "Genetic head and neck malformation", "ORPHA:183586": "Genetic glomerular disease", "ORPHA:183557": "Genetic developmental defect of the eye", "ORPHA:183570": "Genetic malformation syndrome with short stature", "ORPHA:183573": "Genetic overgrowth/obesity syndrome", "ORPHA:183554": "Genetic respiratory or mediastinal malformation", "ORPHA:183548": "Genetic visceral malformation of the liver, biliary tract, pancreas or spleen", "ORPHA:183545": "Genetic digestive tract malformation", "ORPHA:183542": "Genetic cranial malformation", "ORPHA:183539": "Genetic renal or urinary tract malformation", "ORPHA:183536": "Genetic congenital limb malformation", "ORPHA:183533": "Genetic multiple congenital anomalies/dysmorphic syndrome", "ORPHA:183530": "Rare genetic developmental defect during embryogenesis", "ORPHA:253": "Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia / SED and SEMD", "ORPHA:183527": "Genetic bone tumor", "ORPHA:183524": "Rare genetic bone disease", "ORPHA:183521": "Rare genetic movement disorder", "ORPHA:183518": "Hereditary ataxia", "ORPHA:183515": "Rare genetic medullar disease", "ORPHA:183512": "Rare genetic epilepsy", "ORPHA:183509": "Rare genetic headache", "ORPHA:183503": "Genetic central nervous system and retinal vascular disease", "ORPHA:183506": "Genetic central nervous system malformation", "ORPHA:574": "21q deletion syndrome / 21q- syndrome / Partial 21q monosomy", "ORPHA:183497": "Genetic neuromuscular disease", "ORPHA:183500": "Genetic neurodegenerative disease", "ORPHA:151": "OBSOLETE: Familial renal cell carcinoma", "ORPHA:183490": "Genetic photodermatosis / Genetic skin photosensitivity / Photogenodermatosis / Photogénodermatose", "ORPHA:183494": "Genetic immune deficiency with skin involvement", "ORPHA:146": "Differentiated thyroid carcinoma / Papillary or follicular thyroid carcinoma / Well-differentiated thyroid carcinoma", "ORPHA:183484": "Genetic subcutaneous tissue disorder", "ORPHA:183487": "Genetic skin tumor or hamartoma", "ORPHA:1331": "Familial prostate cancer", "ORPHA:183478": "Genetic skin vascular disorder", "ORPHA:183481": "Genetic mixed dermis disorder", "ORPHA:183472": "Genetic dermis disorder", "ORPHA:183466": "Genetic hyperpigmentation of the skin", "ORPHA:183469": "Genetic hypopigmentation of the skin", "ORPHA:183460": "Genetic sebaceous gland anomaly", "ORPHA:183463": "Genetic pigmentation anomaly of the skin", "ORPHA:183438": "Genetic erythrokeratoderma", "ORPHA:183435": "Inherited ichthyosis / Genetic ichthyosis", "ORPHA:183444": "Genetic porokeratosis", "ORPHA:183441": "Genetic acrokeratoderma", "ORPHA:183450": "Genetic hair anomaly", "ORPHA:183447": "Genetic epidermal appendage anomaly", "ORPHA:183454": "Genetic nail anomaly", "ORPHA:182228": "Systemic autoimmune disease", "ORPHA:182222": "Rare systemic disease", "ORPHA:86": "Familial abdominal aortic aneurysm", "ORPHA:182231": "Rare rheumatologic disease", "ORPHA:182734": "Genetic urticaria", "ORPHA:183426": "Genetic epidermal disorder", "ORPHA:183422": "Polymalformative genetic syndrome with increased risk of developing cancer", "ORPHA:182111": "Respiratory malformation", "ORPHA:182114": "Rare urogenital tumor", "ORPHA:182117": "Non-syndromic urogenital tract malformation of female", "ORPHA:182121": "Non-syndromic urogenital tract malformation of male", "ORPHA:182124": "Non-syndromic urogenital tract malformation of male and female", "ORPHA:182127": "Extragonadal germinoma", "ORPHA:182130": "Tumor of endocrine glands", "ORPHA:182214": "OBSOLETE: Rare inflammatory eye disease", "ORPHA:182083": "Channelopathy with epilepsy", "ORPHA:182086": "Acquired peripheral neuropathy", "ORPHA:182090": "Pulmonary arterial hypertension", "ORPHA:99083": "PAH / Pulmonary artery hypoplasia / Unilateral Pulmonary Artery Hypoplasia", "ORPHA:182095": "Interstitial lung disease / ILD", "ORPHA:182098": "Pneumoconiosis", "ORPHA:182101": "Idiopathic eosinophilic pneumonia", "ORPHA:182104": "Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease / CTD-ILD / Secondary ILD in childhood and adulthood associated with a connective tissue disease", "ORPHA:1047": "Sideroblastic anemia", "ORPHA:182108": "Thoracic malformation", "ORPHA:182067": "Glial tumor / Glioma", "ORPHA:182064": "Rare neuroinflammatory or neuroimmunological disease", "ORPHA:182061": "Cerebellar malformation", "ORPHA:182058": "Primary orthostatic hypotension", "ORPHA:182079": "ARX-related epileptic encephalopathy", "ORPHA:182076": "OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability", "ORPHA:182073": "OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability", "ORPHA:182070": "Rare neurodegenerative disease", "ORPHA:194": "OBSOLETE: Ocular coloboma", "ORPHA:182040": "Rare aplastic anemia", "ORPHA:182054": "Rare thrombotic disease of hematologic origin", "ORPHA:1344": "Atrial standstill / Atrial cardiomyopathy with heart block", "ORPHA:182047": "Rare acquired hemolytic anemia", "ORPHA:182043": "Rare constitutional hemolytic anemia", "ORPHA:181425": "OBSOLETE: Rare major hypertriglyceridemia", "ORPHA:181428": "Familial Hyperalphalipoproteinemia", "ORPHA:181419": "Rare hypoaldosteronism", "ORPHA:181422": "Rare hyperlipidemia", "ORPHA:181437": "Rare syndromic dyslipidemia", "ORPHA:181441": "Rare disorder with hypergonadotropic hypogonadism / Rare disorder with primary hypogonadism", "ORPHA:181431": "Rare hypolipidemia", "ORPHA:181399": "Rare hyperthyroidism", "ORPHA:670": "PIBIDS syndrome / Trichothiodystrophy type F / Trichothiodystrophy-sun sensitivity syndrome", "ORPHA:181402": "Syndrome with hypoparathyroidism", "ORPHA:907": "NON RARE IN EUROPE: Wolff-Parkinson-White syndrome / NON RARE IN EUROPE: Ventricular familial preexcitation syndrome", "ORPHA:181396": "Rare hypothyroidism", "ORPHA:181412": "Adrenogenital syndrome", "ORPHA:181415": "Rare primary hyperaldosteronism / Rare primary aldosteronism", "ORPHA:453": "IBIDS syndrome / Tay syndrome / Trichothiodystrophy type E / Trichothiodystrophy with congenital ichthyosis", "ORPHA:181405": "Rare hypoparathyroidism", "ORPHA:181408": "Rare hyperparathyroidism", "ORPHA:1625": "OBSOLETE: Deletion 4q / OBSOLETE: Monosomy 4q", "ORPHA:1611": "OBSOLETE: Deletion 20p / OBSOLETE: Monosomy 20p", "ORPHA:1627": "Deletion 5q35 syndrome / Del (5)(q35) / Del (5)(qter) / Distal 5q deletion / Monosomy 5q35 / Telomeric deletion 5q", "ORPHA:548": "Leprosy", "ORPHA:657": "Congenital isolated hyperinsulinism / PHHI / Persistent hyperinsulinemic hypoglycemia of infancy", "ORPHA:2445": "Conotruncal heart malformations", "ORPHA:323": "NON RARE IN EUROPE: FG syndrome phenotypic spectrum", "ORPHA:2014": "Cleft palate", "ORPHA:150": "Nasopharyngeal carcinoma / NCP / Squamous cell carcinoma of the nasopharynx", "ORPHA:133": "Chronic beryllium disease / Berylliosis / Chronic berylliosis / Chronic beryllium lung disease", "ORPHA:164": "NON RARE IN EUROPE: Cerebral cavernous malformations / NON RARE IN EUROPE: Brain cavernous angioma / NON RARE IN EUROPE: Brain cavernous hemangioma / NON RARE IN EUROPE: Cerebral cavernoma", "ORPHA:1444": "Ring chromosome 20 syndrome / Ring 20", "ORPHA:2615": "Nakajo-Nishimura syndrome / Amyotrophy-fat tissue anomaly syndrome / Secondary hypertrophic osteoperiostosis with pernio", "ORPHA:2601": "OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome", "ORPHA:680": "Normokalemic periodic paralysis / NormoKPP / NormoPP / Normokalemic PP / Periodic paralysis type 3 / Potassium-sensitive normokalemic periodic paralysis", "ORPHA:1708": "Mosaic trisomy 16 syndrome / Mosaic trisomy chromosome 16 / Trisomy 16 mosaicism", "ORPHA:1711": "Mosaic trisomy 17 syndrome / Mosaic trisomy chromosome 17 / Trisomy 17 mosaicism", "ORPHA:1698": "Mosaic trisomy 12 syndrome / Mosaic trisomy chromosome 12 / Trisomy 12 mosaicism", "ORPHA:918": "ABCD syndrome / Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome / Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome", "ORPHA:1445": "Ring chromosome 21 syndrome", "ORPHA:946": "OBSOLETE: Acrocephalosyndactyly / OBSOLETE: Acrocephalosyndactylia", "ORPHA:956": "Acropectororenal dysplasia", "ORPHA:953": "OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type", "ORPHA:1739": "OBSOLETE: Duplication 4q / OBSOLETE: Trisomy 4q", "ORPHA:1877": "Muscular dystrophy-white matter spongiosis syndrome", "ORPHA:1981": "Fanconi syndrome-ichthyosis-dysmorphism syndrome / Deal-Barrat-Dillon syndrome", "ORPHA:1088": "OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome / OBSOLETE: Rommen-Mueller-Sybert syndrome", "ORPHA:1060": "Systemic cystic angiomatosis-Seip syndrome / Brunzell syndrome", "ORPHA:138221": "OBSOLETE: Rare sucking/swallowing disorder", "ORPHA:1057": "OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome", "ORPHA:138118": "OBSOLETE: Acquired alimentary behavior disorder of infancy", "ORPHA:138115": "OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease", "ORPHA:138112": "OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies", "ORPHA:138109": "OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies", "ORPHA:138104": "OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies", "ORPHA:138101": "OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies", "ORPHA:138095": "OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies", "ORPHA:138084": "OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation", "ORPHA:138080": "OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome", "ORPHA:1041": "Hydrops fetalis / Fetal anasarca / Fetal hydrops / Generalized fetal edema / HF", "ORPHA:138076": "OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly", "ORPHA:1037": "Arthrogryposis multiplex congenita / AMC / Multiple congenital arthrogryposis", "ORPHA:138072": "OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome", "ORPHA:1126": "Aprosencephaly cerebellar dysgenesis", "ORPHA:1125": "Ocular motor apraxia, Cogan type / Oculomotor apraxia, Cogan type", "ORPHA:1121": "Radial deficiency-tibial hypoplasia syndrome", "ORPHA:1115": "OBSOLETE: Recessive aplasia cutis congenita of limbs", "ORPHA:1102": "Anophthalmia-hypothalamo-pituitary insufficiency syndrome / 14q22 microdeletion syndrome / Al Frayh-Facharzt-Haque syndrome / Monosomy 14q22", "ORPHA:1092": "Renal-genital-middle ear anomalies", "ORPHA:139039": "Orofacial clefting syndrome", "ORPHA:139042": "Malformation syndrome with odontal and/or periodontal component", "ORPHA:139021": "Malformation syndrome with short stature", "ORPHA:139024": "Overgrowth/obesity syndrome", "ORPHA:139015": "OBSOLETE: Chondrodysplastic malformation syndrome", "ORPHA:139018": "OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones", "ORPHA:139033": "Progeroid syndrome", "ORPHA:139036": "Branchial arch or oral-acral syndrome", "ORPHA:139027": "Rare developmental defect with skin/mucosae involvement", "ORPHA:139030": "Rare developmental defect with connective tissue involvement", "ORPHA:139012": "Rare bone development disorder / Rare skeletal development disorder", "ORPHA:139009": "Developmental anomaly of metabolic origin", "ORPHA:139006": "OBSOLETE: Sequence or association", "ORPHA:964": "Acromegaly-cutis verticis gyrata-corneal leukoma syndrome", "ORPHA:965": "Acromegaloid facial appearance syndrome", "ORPHA:966": "Hypertrichosis-acromegaloid facial appearance syndrome / HAFF / Hypertrichosis-acromegaloid facial features syndrome / Hypertrichosis-coarse face syndrome", "ORPHA:139417": "Acute transverse myelitis", "ORPHA:139420": "OBSOLETE: Secondary acute transverse myelitis / OBSOLETE: Disease-associated transverse myelitis", "ORPHA:1034": "OBSOLETE: Amniotic bands / OBSOLETE: ADAM syndrome / OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome", "ORPHA:139423": "Idiopathic acute transverse myelitis", "ORPHA:139431": "Epilepsy with eyelid myoclonia / EMA / EMEA / Eyelid myoclonia with and without absences / Jeavons syndrome", "ORPHA:139373": "OBSOLETE: Recessive hereditary methemoglobinemia type 1 / OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 / OBSOLETE: NADH-diaphorase deficiency type 1 / OBSOLETE: Recessive congenital methemoglobinemia type 1", "ORPHA:139380": "OBSOLETE: Recessive hereditary methemoglobinemia type 2 / OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 / OBSOLETE: NADH-diaphorase deficiency type 2 / OBSOLETE: Recessive congenital methemoglobinemia type 2", "ORPHA:1023": "Congenital generalized hypertrichosis, Ambras type / Ambras syndrome", "ORPHA:139390": "Non-syndromic craniosynostosis / Isolated craniosynostosis", "ORPHA:139393": "Syndromic craniosynostosis", "ORPHA:139396": "X-linked cerebral adrenoleukodystrophy / X-CALD", "ORPHA:139399": "Adrenomyeloneuropathy", "ORPHA:1011": "Alopecia-hypogonadism-extrapyramidal syndrome / Devriendt-Legius-Fryns syndrome", "ORPHA:665": "Albright hereditary osteodystrophy", "ORPHA:1251": "Blepharofacioskeletal syndrome / Richieri Costa-Guion Almeida-Rodini syndrome", "ORPHA:1250": "OBSOLETE: Blaichman syndrome / OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome", "ORPHA:1256": "OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome / OBSOLETE: Jorgenson-Lenz syndrome", "ORPHA:1235": "OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome / OBSOLETE: Basan syndrome", "ORPHA:1239": "Behr syndrome", "ORPHA:137622": "Intractable diarrhea-choanal atresia-eye anomalies syndrome", "ORPHA:137617": "Nephrogenic systemic fibrosis / Nephrogenic fibrosing dermopathy", "ORPHA:137628": "Cardiac anomalies-heterotaxy syndrome", "ORPHA:1293": "Brachyolmia", "ORPHA:137625": "Glycogen storage disease due to muscle and heart glycogen synthase deficiency / GSD due to muscle and heart glycogen synthase deficiency / GSD type 0b / Glycogen storage disease type 0b / Glycogenosis due to muscle and heart glycogen synthase deficiency / Glycogenosis type 0b", "ORPHA:137658": "Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome / Woods-Crouchman-Huson syndrome", "ORPHA:137653": "Microcephaly-digital anomalies-intellectual disability syndrome / Kelly-Kirson-Wyatt syndrome", "ORPHA:137672": "Pellucid marginal degeneration", "ORPHA:1301": "Bronchiectasis-oligospermia syndrome", "ORPHA:137631": "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome", "ORPHA:137639": "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome / Ataxia-delayed dentition-hypomyelination syndrome", "ORPHA:137577": "Neonatal hypoxic and ischemic brain injury / HIE / Hypoxic and ischemic brain injury in the newborn / Hypoxic-ischemic encephalopathy / Perinatal hypoxia", "ORPHA:137583": "Vulvar intraepithelial neoplasia / VIN / Vulvar intraepithelial tumor", "ORPHA:137586": "OBSOLETE: Herpes simplex virus keratitis / OBSOLETE: HSV keratitis / OBSOLETE: Herpetic keratitis", "ORPHA:1266": "Dermato-cardio-skeletal syndrome, Borrone type", "ORPHA:1271": "Bowen syndrome", "ORPHA:137593": "Infectious epithelial keratitis", "ORPHA:137602": "Corneal endotheliitis", "ORPHA:137820": "Extrapelvic endometriosis / Endometriosis outside pelvis", "ORPHA:137814": "Macular amyloidosis", "ORPHA:137839": "Lemierre syndrome / Lemierre postanginal sepsis / Postanginal sepsis secondary to orophyngeal infection / Septic phlebitis of the internal jugular vein", "ORPHA:137862": "Martínez-Frías syndrome / Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome", "ORPHA:137871": "OBSOLETE: Laminopathy type Decaudain-Vigouroux / OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy", "ORPHA:1139": "OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome", "ORPHA:137681": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 / Hepatoencephalopathy due to COXPD1", "ORPHA:1137": "OBSOLETE: Pulmonary aortic stenosis obstructive uropathy / OBSOLETE: Kashani-Strom-Utley syndrome", "ORPHA:137675": "Histiocytoid cardiomyopathy / Foamy myocardial transformation of infancy / Infantile cardiomyopathy with histiocytoid change / Infantile xanthomatous cardiomyopathy / Oncocytic cardiomyopathy", "ORPHA:137678": "Spondyloepiphyseal dysplasia with metatarsal shortening / Czech dysplasia, metatarsal type / SED with metatarsal shortening", "ORPHA:137698": "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk / CMV disease in patients with impaired cell mediated immunity deemed at risk", "ORPHA:1153": "OBSOLETE: Transient neonatal arthrogryposis", "ORPHA:137776": "Lethal congenital contracture syndrome type 2 / LCCS2 / Multiple contracture syndrome, Israeli-Bedouin type", "ORPHA:137807": "Primary cutaneous amyloidosis / PLCA / Primary localized cutaneous amyloidosis", "ORPHA:137810": "Nodular cutaneous amyloidosis / PLCNA / Primary localized cutaneous nodular amyloidosis", "ORPHA:137783": "Lethal congenital contracture syndrome type 3 / LCCS3", "ORPHA:1211": "OBSOLETE: Atrichia-intellectual disability and growth delay syndrome", "ORPHA:138041": "Pierre Robin syndrome associated with collagen disease / Pierre Robin sequence associated with collagen disease", "ORPHA:138047": "Pierre Robin syndrome associated with a chromosomal anomaly / Pierre Robin sequence associated with a chromosomal anomaly", "ORPHA:138044": "Rare disease with Pierre Robin syndrome", "ORPHA:1219": "Aurocephalosyndactyly / Auralcephalosyndactyly / Kurczynski-Casperson syndrome", "ORPHA:138055": "Pierre Robin syndrome associated with bone disease / Pierre Robin sequence associated with bone disease", "ORPHA:138050": "Pierre Robin syndrome associated with branchial archs anomalies / Pierre Robin sequence associated with branchial archs anomalies", "ORPHA:138063": "OBSOLETE: Syndrome associated with Pierre Robin syndrome / OBSOLETE: Syndrome associated with Pierre Robin sequence", "ORPHA:138059": "Teratogenic Pierre Robin syndrome / Teratogenic Pierre Robin sequence", "ORPHA:138069": "OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome / OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence", "ORPHA:138066": "OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies / OBSOLETE: Pierre Robin sequence associated with miscellaneous anomalies", "ORPHA:137893": "Male infertility due to large-headed multiflagellar polyploid spermatozoa / Macrocephalic sperm head syndrome / Male infertility due to macrozoospermia", "ORPHA:137905": "Syndromic optic nerve hypoplasia", "ORPHA:137908": "Hypotonia with lactic acidemia and hyperammonemia / COXPD5 / Combined oxidative phosphorylation defect type 5", "ORPHA:137911": "Autism-facial port-wine stain syndrome", "ORPHA:137917": "Choanal atresia, unilateral", "ORPHA:137920": "Choanal atresia, bilateral", "ORPHA:137923": "OBSOLETE: Cervicofacial lymphatic malformation", "ORPHA:137926": "Primary laryngeal lymphangioma", "ORPHA:137929": "Neonatal brainstem dysfunction", "ORPHA:137932": "Congenital laryngeal palsy / Congenital vocal cord paralysis", "ORPHA:141242": "Paramedian nasal cleft / Alar cleft / Alar rim cleft / Cleft nose / Isolated cleft of the ala nasi / Isolated coloboma of the nose / Tessier number 1 cleft", "ORPHA:141239": "Median cleft of the upper lip and maxilla", "ORPHA:1440": "Ring chromosome 14 syndrome / Ring 14", "ORPHA:141234": "Median facial cleft / Midline facial cleft / Tessier number 0-14 and 30 facial cleft", "ORPHA:1443": "Ring chromosome 19 syndrome / Ring 19", "ORPHA:141229": "Facial cleft / Craniofacial cleft", "ORPHA:141261": "Tessier number 5 facial cleft", "ORPHA:141258": "Tessier number 4 facial cleft", "ORPHA:141253": "Oblique facial cleft / Orbitofacial cleft", "ORPHA:141199": "Cerebrofacial arteriovenous metameric syndrome type 3 / CAMS3", "ORPHA:141194": "Cerebrofacial arteriovenous metameric syndrome type 1 / CAMS1", "ORPHA:141189": "Cerebrofacial arteriovenous metameric syndrome / CAMS", "ORPHA:141219": "Nasal dorsum fistula", "ORPHA:141214": "Isolated congenital syngnathia / Isolated congenital maxillomandibular fusion", "ORPHA:141209": "Diffuse lymphatic malformation / Diffuse lymphangioma / Diffuse lymphangiomatosis / Disseminated lymphangioma / Disseminated lymphangiomatosis / Disseminated lymphatic malformation / GLA / Generalized lymphatic anomaly", "ORPHA:1432": "Autosomal dominant chorioretinopathy-microcephaly syndrome", "ORPHA:155832": "Rare head and neck malformation", "ORPHA:155835": "Cysts and fistulae of the face and oral cavity", "ORPHA:155878": "Submucosal cleft palate", "ORPHA:155838": "Pinnae fistula or cyst", "ORPHA:155867": "Paramedian facial cleft / Tessier number 1-1 and 2-12 facial cleft", "ORPHA:141276": "Tessier number 7 facial cleft / Commissural facial cleft / Transverse facial cleft", "ORPHA:141265": "Tessier number 6 facial cleft", "ORPHA:141269": "Lateral facial cleft", "ORPHA:141327": "OBSOLETE: Orofaciodigital syndrome type 12 / OBSOLETE: Moran-Barroso syndrome / OBSOLETE: OFD12 / OBSOLETE: Oral-facial-digital syndrome type 12", "ORPHA:141330": "OBSOLETE: Orofaciodigital syndrome type 13 / OBSOLETE: Degner syndrome / OBSOLETE: OFD13 / OBSOLETE: Oral-facial-digital syndrome type 13", "ORPHA:141288": "Midline cervical cleft", "ORPHA:141091": "Polyrrhinia / Double nose / Polyrhinia", "ORPHA:1408": "Hair defect-photosensitivity-intellectual disability syndrome / Calderón-González-Cantu syndrome", "ORPHA:1409": "Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome / Salamon syndrome", "ORPHA:141083": "Nasolacrimal duct cyst / Dacryocele / Dacryocystocele / Nasolacrimal mucocele", "ORPHA:141099": "Proboscis lateralis / Congenital tubular nose", "ORPHA:141107": "Nasopharyngeal teratoma / Teratoma of the nasopharynx", "ORPHA:141103": "Nasal dermoid cyst / Nasal dermoid sinus cyst", "ORPHA:141115": "Nasal ganglioglioma", "ORPHA:141112": "Nasal glial heterotopia / Nasal glioma", "ORPHA:141051": "Facial dermoid cyst / Dermoid cyst of the face", "ORPHA:141064": "Isolated lower lip fistula / Isolated lower lip pits / Non-syndromic familial congenital lower lip pits", "ORPHA:1396": "OBSOLETE: Cerebrorenodigital syndrome", "ORPHA:141061": "Commissural lip fistula", "ORPHA:141071": "Digestive duplication cyst of the tongue / Enteric duplication cyst of the tongue / Foregut duplication cyst of the tongue / Gastric duplication cyst of the tongue", "ORPHA:141067": "Cervicofacial fibrochondroma", "ORPHA:141077": "Epignathus / Oropharyngeal teratoma", "ORPHA:141074": "External auditory canal aplasia/hypoplasia / External auditory canal stenosis/atresia", "ORPHA:141163": "Glossopalatine ankylosis / Cosack syndrome", "ORPHA:141168": "Frontonasal arteriovenous malformation", "ORPHA:141171": "Maxillary arteriovenous malformation / Arteriovenous malformation of maxilla", "ORPHA:141174": "Mandibular arteriovenous malformation / Arteriovenous malformation of mandible", "ORPHA:141118": "Nasal encephalocele", "ORPHA:1420": "OBSOLETE: Lethal chondrodysplasia, Moerman type / OBSOLETE: Moerman-Vandenberghe-Fryns syndrome", "ORPHA:141121": "Congenital subglottic stenosis", "ORPHA:141124": "Congenital laryngeal cyst", "ORPHA:1421": "OBSOLETE: Lethal chondrodysplasia, Seller type", "ORPHA:141136": "Otomandibular syndrome / First branchial arch syndrome / Hemifacial microsomia / Laterofacial microsomia / Otomandibular dysostosis", "ORPHA:141145": "Hemifacial hyperplasia / Hemifacial hypertrophy", "ORPHA:141148": "Hemifacial myohyperplasia", "ORPHA:156723": "Piepkorn dysplasia / Short ribs-craniosynostosis-polysyndactyly syndrome", "ORPHA:1376": "OBSOLETE: Congenital cataract-ichthyosis syndrome", "ORPHA:156643": "Genetic endocrine growth disease", "ORPHA:156638": "Rare genetic endocrine disease", "ORPHA:156629": "Rare genetic cause of hypertension", "ORPHA:156622": "Genetic urogenital tract malformation", "ORPHA:156619": "Rare genetic urogenital disease", "ORPHA:156610": "Rare genetic respiratory disease", "ORPHA:156607": "Genetic biliary tract disease", "ORPHA:156604": "Genetic parenchymatous liver disease", "ORPHA:156601": "Rare genetic hepatic disease", "ORPHA:156532": "Rare syndrome with cardiac malformations", "ORPHA:156252": "Tracheal anomaly", "ORPHA:157823": "Klüver-Bucy syndrome", "ORPHA:157826": "Congenital epulis / Congenital gingival cell tumor / Congenital granular cell tumor / Neumann tumor", "ORPHA:157808": "Isolated pseudoarthrosis of the limbs / Congenital pseudoarthrosis of the limbs / Isolated congenital pseudarthrosis of the limbs", "ORPHA:157820": "Cold-induced sweating syndrome / CISS", "ORPHA:157791": "Epithelioid hemangioendothelioma", "ORPHA:157769": "Situs ambiguus / Incomplete situs inversus / Partial situs inversus / Situs ambiguous", "ORPHA:157788": "Hypospadias-hypertelorism-coloboma and deafness syndrome / Hypospadias-hypertelorism-coloboma and hearing loss syndrome", "ORPHA:157716": "Late infantile CACH syndrome", "ORPHA:157719": "Juvenile or adult CACH syndrome", "ORPHA:157713": "Congenital or early infantile CACH syndrome", "ORPHA:156731": "Dyssegmental dysplasia, Rolland-Desbuquois type", "ORPHA:156159": "Isolated dystonia / Pure dystonia", "ORPHA:156156": "Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy", "ORPHA:156165": "Retinal ciliopathy", "ORPHA:156162": "Renal ciliopathy", "ORPHA:156146": "Predominantly small-vessel vasculitis", "ORPHA:1321": "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome / Goodman camptodactyly", "ORPHA:156143": "Predominantly medium-vessel vasculitis", "ORPHA:156152": "Anti-neutrophil cytoplasmic antibody-associated vasculitis / AAV / ANCA-associated vasculitis / Antineutrophil cytoplasmic antibody-associated vasculitis", "ORPHA:156149": "Immune complex mediated vasculitis", "ORPHA:156071": "OBSOLETE: Keratoconus", "ORPHA:156005": "Primary early-onset glaucoma", "ORPHA:1317": "CAMFAK syndrome / CAMAK syndrome / Cataract-microcephaly-arthrogryposis-kyphosis syndrome / Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome", "ORPHA:156140": "Predominantly large-vessel vasculitis", "ORPHA:155889": "Coloboma of inferior eyelid / Inferior palpebral coloboma", "ORPHA:155884": "Coloboma of superior eyelid / Superior palpebral coloboma", "ORPHA:155899": "Mandibulofacial dysostosis / Bilateral and symmetric oto-mandibular dysplasia", "ORPHA:155896": "Otomandibular dysplasia", "ORPHA:156237": "Syndrome or malformation associated with head and neck malformations", "ORPHA:156243": "Pinnae and external auditory canal anomaly", "ORPHA:156246": "Nose and cavum anomaly", "ORPHA:156249": "Larynx anomaly", "ORPHA:156212": "Hypoglossia/aglossia", "ORPHA:1342": "Heart-hand syndrome type 3 / Atriodigital dysplasia type 3 / Cardiomelic syndrome type 3 / Heart-hand syndrome, Spanish type / Heart-limb syndrome type 3", "ORPHA:156215": "Oromandibular-limb anomalies syndrome", "ORPHA:156224": "Paralytic facial malformation", "ORPHA:156230": "Facial arteriovenous malformation", "ORPHA:156180": "Retinal ciliopathy due to mutation in nephronophthisis gene", "ORPHA:156183": "Retinal ciliopathy due to mutation in Bardet-Biedl gene", "ORPHA:156202": "Otomandibular dysplasia associated with monogenic syndromes", "ORPHA:1339": "OBSOLETE: Cranioacrofacial syndrome / OBSOLETE: Grosse syndrome", "ORPHA:156207": "Macroglossia", "ORPHA:156168": "Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene / Retinal ciliopathy due to mutation in RP1 gene", "ORPHA:156171": "Retinal ciliopathy due to mutation in the RPGR gene", "ORPHA:156174": "Retinal ciliopathy due to mutation in the RPGRIP gene", "ORPHA:156177": "Retinal ciliopathy due to mutation in Usher gene", "ORPHA:1683": "Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome", "ORPHA:1680": "OBSOLETE: Spastic diplegia, infantile type / OBSOLETE: Little syndrome", "ORPHA:1678": "Dincsoy-Salih-Patel syndrome / Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome", "ORPHA:1767": "Familial progressive vestibulocochlear dysfunction", "ORPHA:140162": "Inherited cancer-predisposing syndrome", "ORPHA:1792": "Humerospinal dysostosis", "ORPHA:139441": "Hypomyelination with atrophy of basal ganglia and cerebellum / H-ABC", "ORPHA:139447": "Progressive cavitating leukoencephalopathy", "ORPHA:1575": "OBSOLETE: Infantile striatothalamic degeneration", "ORPHA:139455": "Autosomal recessive bestrophinopathy / Retinopathy, Burgess-Black type", "ORPHA:1577": "OBSOLETE: Infantile thalamic degeneration", "ORPHA:139477": "Al-Gazali-Dattani syndrome", "ORPHA:139498": "NON RARE IN EUROPE: Hemochromatosis type 1 / NON RARE IN EUROPE: C282Y/C282Y hemochromatosis / NON RARE IN EUROPE: Classic hemochromatosis / NON RARE IN EUROPE: HFE-related hemochromatosis", "ORPHA:1651": "OBSOLETE: Dennis-Cohen syndrome", "ORPHA:1654": "OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome", "ORPHA:139515": "Charcot-Marie-Tooth disease type 4J / CMT4J", "ORPHA:139512": "Neuropathy with hearing impairment", "ORPHA:139525": "Distal hereditary motor neuropathy type 2 / Distal spinal muscular atrophy type 2 / dHMN2 / dSMA2", "ORPHA:139518": "Distal hereditary motor neuropathy type 1 / Autosomal dominant distal juvenile spinal muscular atrophy type 1 / dHMN1", "ORPHA:139547": "Distal spinal muscular atrophy type 3 / Autosomal recessive distal spinal muscular atrophy type 3 / Distal hereditary motor neuropathy type 3 and type 4 / dHMN3 and dHMN4 / dSMA3", "ORPHA:139557": "X-linked distal spinal muscular atrophy type 3 / ATP7A-related distal motor neuropathy / DSMAX / SMAX3 / X-linked dHMN3 / X-linked dSMA3 / X-linked distal hereditary motor neuropathy type 3", "ORPHA:139552": "Distal hereditary motor neuropathy, Jerash type / Autosomal recessive distal spinal muscular atrophy type 2 / dHMNJ", "ORPHA:139573": "Hereditary sensory and autonomic neuropathy with deafness and global delay / HSAN with deafness and global delay / HSAN with hearing loss and global delay / Hereditary sensory and autonomic neuropathy with hearing loss and global delay", "ORPHA:139564": "Hereditary sensory and autonomic neuropathy type 1B / HSAN with cough and gastroesophageal reflux / HSAN1B / Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux / Hereditary sensory and autonomic neuropathy type IB", "ORPHA:139583": "X-linked hereditary sensory and autonomic neuropathy with deafness / X-linked HSAN with deafness / X-linked HSAN with hearing loss / X-linked auditory neuropathy with peripheral sensory neuropathy type 1 / X-linked hereditary sensory and autonomic neuropathy with hearing loss", "ORPHA:139589": "Distal hereditary motor neuropathy type 7 / Distal spinal muscular atrophy with vocal cord paralysis / dHMN7", "ORPHA:1674": "Digitorenocerebral syndrome / DRC syndrome / Eronen-Somer-Gustafsson syndrome", "ORPHA:140917": "Stapes ankylosis with broad thumbs and toes / Teunissen-Cremers syndrome", "ORPHA:140922": "Titin-related limb-girdle muscular dystrophy R10 / Autosomal recessive limb-girdle muscular dystrophy type 2J / LGMD type 2J / LGMD2J / Limb-girdle muscular dystrophy type 2J / Titin-related LGMD R10", "ORPHA:1535": "Craniosynostosis-dysmorphism-brachydactyly syndrome / Glass-Chapman-Hockley syndrome", "ORPHA:1533": "OBSOLETE: Craniosynostosis-fibular aplasia syndrome / OBSOLETE: Lowry syndrome", "ORPHA:140874": "Joubert syndrome and related disorders / JSRD", "ORPHA:140957": "Autosomal dominant macrothrombocytopenia", "ORPHA:140944": "CLOVES syndrome / Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome / Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome", "ORPHA:140949": "Low-flow priapism", "ORPHA:140927": "Self-limited neonatal-infantile epilepsy / BFNIS / Benign familial neonatal-infantile seizures / Benign neonatal-infantile epilepsy / SeLFNIE", "ORPHA:140969": "Saldino-Mainzer syndrome / Conorenal syndrome / Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome", "ORPHA:140963": "Bilateral microtia-deafness-cleft palate syndrome / Bilateral microtia-hearing loss-cleft palate syndrome", "ORPHA:1557": "Cutis verticis gyrata-intellectual disability syndrome / McDowall syndrome", "ORPHA:141046": "Cervical dermoid cyst / Dermoid cyst of the neck", "ORPHA:141037": "Fourth branchial cleft anomaly / Fourth branchial cleft cyst / Fourth branchial cleft fistula", "ORPHA:141030": "Third branchial cleft anomaly / Third branchial cleft cyst / Third branchial cleft fistula", "ORPHA:141022": "Second branchial cleft anomaly / Second branchial cleft cyst / Second branchial cleft fistula", "ORPHA:141013": "First branchial cleft anomaly / First branchial cleft cyst / First branchial cleft fistula", "ORPHA:141007": "Orofaciodigital syndrome type 9 / OFD9 / Oral-facial-digital syndrome type 9 / Oral-facial-digital syndrome with retinal abnormalities / Orofaciodigital syndrome with retinal abnormalities", "ORPHA:141000": "Orofaciodigital syndrome type 11 / OFD11 / Oral-facial-digital syndrome type 11 / Oral-facial-digital syndrome, Gabrielli type / Orofaciodigital syndrome, Gabrielli type", "ORPHA:140997": "Orofaciodigital syndrome / Oral-facial-digital syndrome", "ORPHA:488265": "OFD / Osteofibrous dysplasia", "ORPHA:1569": "De Sanctis-Cacchione syndrome / Xeroderma pigmentosum with neurologic manifestation", "ORPHA:1499": "OBSOLETE: Cortada-Koussef-Matsumoto syndrome", "ORPHA:140432": "OBSOLETE: Hereditary iron overload with anemia", "ORPHA:140436": "Primary intraosseous venous malformation / Intraosseous hemangioma / Osseous venous malformation", "ORPHA:140450": "OBSOLETE: Hereditary motor and sensory neuropathy / OBSOLETE: HMSN", "ORPHA:140453": "Autosomal dominant hereditary demyelinating motor and sensory neuropathy", "ORPHA:140428": "OBSOLETE: Hereditary iron overload with neurologic manifestation", "ORPHA:140468": "Autosomal recessive distal hereditary motor neuropathy / Autosomal recessive dHMN / Autosomal recessive dSMA / Autosomal recessive distal spinal muscular atrophy", "ORPHA:140471": "Hereditary sensory and autonomic neuropathy / HSAN", "ORPHA:140474": "Autosomal dominant hereditary sensory and autonomic neuropathy", "ORPHA:140477": "Autosomal recessive hereditary sensory and autonomic neuropathy", "ORPHA:140456": "Autosomal dominant hereditary axonal motor and sensory neuropathy", "ORPHA:140459": "Autosomal recessive hereditary demyelinating motor and sensory neuropathy", "ORPHA:140462": "OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy", "ORPHA:140465": "Autosomal dominant distal hereditary motor neuropathy / Autosomal dominant dHMN / Autosomal dominant distal spinal muscular atrophy", "ORPHA:140503": "OBSOLETE: Channelopathy", "ORPHA:140481": "Autosomal dominant slowed nerve conduction velocity", "ORPHA:140500": "OBSOLETE: Neurological channelopathy", "ORPHA:1526": "OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome / OBSOLETE: Acro-cephalo-synostosis / OBSOLETE: Allain-Babin-Demarquez syndrome", "ORPHA:140653": "Neuro-ophthalmological disease", "ORPHA:1956": "OBSOLETE: Erythromelalgia", "ORPHA:1940": "Shoulder and thorax deformity-congenital heart disease syndrome", "ORPHA:1888": "Ectrodactyly-ectodermal dysplasia without clefting syndrome / EEC syndrome without cleft lip/palate", "ORPHA:1889": "Ectrodactyly-cleft palate syndrome / ECP syndrome", "ORPHA:254": "Spondylometaphyseal dysplasia", "ORPHA:1850": "Renal dysplasia-megalocystis-sirenomelia syndrome / Selig-Benacerraf-Greene syndrome", "ORPHA:1838": "Metaphyseal dysplasia without hypotrichosis / Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome", "ORPHA:1831": "De Hauwere syndrome / De Hauwere-Chitty syndrome / Iris dysplasia-hypertelorism-deafness syndrome / Iris dysplasia-hypertelorism-hearing loss syndrome", "ORPHA:251": "Multiple epiphyseal dysplasia / EDM / MED / Polyepiphyseal dysplasia", "ORPHA:1823": "OBSOLETE: Localized epiphyseal dysplasia", "ORPHA:1804": "Dyssegmental dysplasia-glaucoma syndrome", "ORPHA:1800": "OBSOLETE: Craniofaciocervical osteoglyphic dysplasia / OBSOLETE: Bazopoulou-Kyrkanidou syndrome", "ORPHA:2129": "OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome / OBSOLETE: HIPO syndrome", "ORPHA:2130": "Non-syndromic hemimelia / Non-syndromic longitudinal meromelia", "ORPHA:158048": "Hemophagocytic syndrome associated with an infection / IAHS / VAHS / Virus-associated hemophagocytic syndrome", "ORPHA:158057": "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease", "ORPHA:158061": "Macrophage activation syndrome", "ORPHA:2109": "Hallermann-Streiff-like syndrome / Dennis-Fairhurst-Moore syndrome / Hallermann-Streiff-François syndrome, severe form / Severe Hallermann-Streiff-François syndrome", "ORPHA:2112": "OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome", "ORPHA:158124": "Genetic dementia", "ORPHA:158266": "Huntington disease-like syndrome / Huntington disease phenocopy syndrome", "ORPHA:158300": "Rare genetic hematologic disease", "ORPHA:2120": "OBSOLETE: Heckenlively syndrome", "ORPHA:2124": "Cavernous hemangiomas of face-supraumbilical midline raphe syndrome", "ORPHA:157987": "Non-Langerhans cell histiocytosis", "ORPHA:2087": "Glomerulonephritis-sparse hair-telangiectasis syndrome", "ORPHA:158011": "Necrobiotic xanthogranuloma", "ORPHA:158019": "Indeterminate cell histiocytosis / Indeterminate dendritic cell neoplasm / Indeterminate dendritic cell tumor", "ORPHA:158041": "Secondary hemophagocytic lymphohistiocytosis / Acquired hemophagocytic lymphohistiocytosis / Reactive hemophagocytic syndrome", "ORPHA:158038": "Primary hemophagocytic lymphohistiocytosis / Genetic HLH / Genetic hemophagocytic lymphohistiocytosis / Primary HLH", "ORPHA:2099": "OBSOLETE: Grix-Blankenship-Peterson syndrome / OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome", "ORPHA:158032": "Hemophagocytic syndrome / HLH / Hemophagocytic lymphohistiocytosis", "ORPHA:157843": "Trigeminal autonomic cephalalgia", "ORPHA:157832": "Craniorhiny", "ORPHA:157855": "HARP syndrome / Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome", "ORPHA:157962": "Oculoauricular syndrome, Schorderet type", "ORPHA:157949": "Combined immunodeficiency with granulomatosis / CID due to RAG 1/2 deficiency / Combined immunodeficiency due to RAG 1/2 deficiency", "ORPHA:157980": "NON RARE IN EUROPE: Bladder cancer", "ORPHA:2081": "Cerebral gigantism-jaw cysts syndrome / Cramer-Niederdellmann syndrome", "ORPHA:2051": "Fraser-like syndrome", "ORPHA:2055": "Growth deficiency-brachydactyly-dysmorphism syndrome / Frias syndrome", "ORPHA:2060": "Fukuda-Miyanomae-Nakata syndrome", "ORPHA:250": "Frontonasal dysplasia / Median cleft face syndrome", "ORPHA:158796": "OBSOLETE: Classic mast cell leukemia", "ORPHA:158799": "OBSOLETE: Aleukemic mast cell leukemia", "ORPHA:2029": "Multiple non-ossifying fibromatosis / Jaffe-Campanacci syndrome", "ORPHA:2042": "OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome", "ORPHA:158769": "Plaque-form urticaria pigmentosa", "ORPHA:2006": "Median cleft lip/mandible / Median cleft lower facial stage / Median cleft of the lower lip and mandible / Median mandibular cleft", "ORPHA:158766": "Typical urticaria pigmentosa", "ORPHA:158793": "OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia", "ORPHA:158778": "Isolated bone marrow mastocytosis", "ORPHA:158775": "Smoldering systemic mastocytosis", "ORPHA:158772": "Nodular urticaria pigmentosa", "ORPHA:1987": "Isolated femoral agenesis/hypoplasia / CFD / CSF / Isolated congenital femoral deficiency / Isolated congenital short femur / Isolated femoral intercalary meromelia", "ORPHA:1984": "Fechtner syndrome / Alport syndrome with leukocyte inclusions and macrothrombocytopenia", "ORPHA:158661": "OBSOLETE: Suprabasal epidermolysis bullosa simplex", "ORPHA:158665": "OBSOLETE: Basal epidermolysis bullosa simplex", "ORPHA:247775": "Mayer-Rokitansky-Küster-Hauser syndrome type 1 / Congenital absence of uterus and vagina / MRKH syndrome type 1 / Rokitansky sequence", "ORPHA:2351": "Kousseff syndrome / Sacral meningocele-conotruncal heart defects syndrome", "ORPHA:2353": "Schilbach-Rott syndrome / BRSS / Hypotelorism-cleft palate-hypospadias syndrome", "ORPHA:247790": "FTH1-related iron overload / FTH1-associated iron overload", "ORPHA:2355": "Kumar-Levick syndrome / Nail dysplasia-camptodactyly-brachydactyly type B syndrome", "ORPHA:247794": "Juvenile cataract-microcornea-renal glucosuria syndrome / Juvenile cataract-microcornea-renal glycosuria syndrome", "ORPHA:2340": "Keratosis follicularis spinulosa decalvans", "ORPHA:247685": "Odontohypophosphatasia", "ORPHA:2342": "Haim-Munk syndrome / Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome / Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome / Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome", "ORPHA:247709": "Multiple endocrine neoplasia type 2B / MEN2B / Multiple endocrine neoplasia type 3 / Wagenmann-Froboese syndrome", "ORPHA:247698": "Multiple endocrine neoplasia type 2A / MEN2A / PTC syndrome / Sipple syndrome", "ORPHA:247724": "Idiopathic eosinophilic myositis / Idiopathic eosinophilia-associated myopathy", "ORPHA:247718": "Inflammatory myopathy with abundant macrophages / IMAM", "ORPHA:247765": "X-linked cerebellar ataxia", "ORPHA:247762": "Lipoblastoma", "ORPHA:2333": "Kenny-Caffey syndrome / Kenny syndrome", "ORPHA:247623": "Perinatal lethal hypophosphatasia / Perinatal lethal Rathbun disease / Perinatal lethal phosphoethanolaminuria", "ORPHA:2335": "NON RARE IN EUROPE: Isolated keratoconus", "ORPHA:247638": "Prenatal benign hypophosphatasia / Prenatal benign Rathbun disease / Prenatal benign phosphoethanolaminuria", "ORPHA:2338": "Isolated punctate palmoplantar keratoderma / Isolated punctate PPK / Isolated punctate palmoplantar hyperkeratosis", "ORPHA:247651": "Infantile hypophosphatasia / Infantile Rathbun disease / Infantile phosphoethanolaminuria", "ORPHA:247667": "Childhood-onset hypophosphatasia / Childhood-onset Rathbun disease / Childhood-onset phosphoethanolaminuria", "ORPHA:247676": "Adult hypophosphatasia / Adult Rathbun disease / Adult phosphoethanolaminuria", "ORPHA:247378": "Autosomal recessive secondary polycythemia not associated with VHL gene / Autosomal recessive secondary erythrocytosis not associated with VHL gene / Autosomal recessive secondary erythrocytosis, non-Chuvash type / Autosomal recessive secondary polycythemia, non-Chuvash type", "ORPHA:247511": "Autosomal dominant secondary polycythemia / Autosomal dominant secondary erythrocytosis", "ORPHA:247522": "Primary ciliary dyskinesia-retinitis pigmentosa syndrome", "ORPHA:247546": "Acute neonatal citrullinemia type I / Acute neonatal citrullinemia type 1 / Early-onset citrullinemia type 1 / Early-onset citrullinemia type I", "ORPHA:247573": "Late-onset citrullinemia type I / Late-onset citrullinemia type 1", "ORPHA:2329": "Karsch-Neugebauer syndrome / Split hand/split foot-nystagmus syndrome", "ORPHA:247582": "Citrin deficiency", "ORPHA:248404": "Rare thrombotic disorder due to an acquired platelet anomaly", "ORPHA:248401": "Rare thrombotic disorder due to a constitutional platelet anomaly", "ORPHA:2405": "Thickened earlobes-conductive deafness syndrome / Escher-Hirt syndrome / Thickened earlobes-conductive hearing loss syndrome", "ORPHA:248368": "Rare thrombotic disorder due to a platelet anomaly", "ORPHA:248365": "Rare thrombotic disorder due to an acquired coagulation factors defect", "ORPHA:2407": "Laryngo-onycho-cutaneous syndrome / LOC syndrome / LOGIC syndrome / Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome / Shabbir syndrome", "ORPHA:250165": "Genetic polycythemia", "ORPHA:248408": "Familial hypodysfibrinogenemia", "ORPHA:248326": "Rare hemorrhagic disorder due to a platelet anomaly / Rare bleeding disorder due to a platelet anomaly / Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia / Rare coagulopathy due to a platelet anomaly / Rare coagulopathy due to a thrombopathy and/or thrombocytopenia / Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia", "ORPHA:248315": "Rare hemorrhagic disorder due to a coagulation factors defect / Rare bleeding disorder due to a coagulation factors defect / Rare coagulopathy due to a coagulation factor defect", "ORPHA:248308": "Rare hemorrhagic disorder / Rare bleeding disorder", "ORPHA:248305": "OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency", "ORPHA:248361": "Rare thrombotic disorder due to a constitutional coagulation factors defect", "ORPHA:248358": "Rare thrombotic disorder due to a coagulation factors defect", "ORPHA:248347": "Rare hemorrhagic disorder due to an acquired platelet anomaly / Rare bleeding disorder due to an acquired platelet anomaly / Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia / Rare coagulopathy due to an acquired platelet anomaly / Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia / Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia", "ORPHA:248340": "Isolated delta-storage pool disease / Isolated delta-SPD / Isolated dense-SPD / Isolated dense-storage pool disease", "ORPHA:247871": "OBSOLETE: Vitiligo-associated autoimmune disease", "ORPHA:248095": "Primary hypertrophic osteoarthropathy / Idiopathic hypertrophic osteoarthropathy / PHO", "ORPHA:248302": "Rare acquired deficiency anemia", "ORPHA:2391": "Congenitally short costocoracoid ligament", "ORPHA:248293": "Rare deficiency anemia", "ORPHA:2390": "Lichtenstein syndrome", "ORPHA:248296": "Constitutional deficiency anemia", "ORPHA:2389": "Lewis-Pashayan syndrome / Cleft lip/palate-ectrodactyly syndrome", "ORPHA:247834": "Occult macular dystrophy / OCMD / OMD", "ORPHA:2371": "Lethal Larsen-like syndrome", "ORPHA:247839": "OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies / OBSOLETE: Oligoarticular JIA with anti-nuclear antibodies / OBSOLETE: Pauciarticular chronic arthritis with anti-nuclear antibodies", "ORPHA:2369": "Limb body wall complex / Body stalk anomaly / LBWC syndrome", "ORPHA:247820": "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome", "ORPHA:247827": "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome", "ORPHA:247861": "OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies / OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies / OBSOLETE: Polyarthritis without rheumatoid factor without anti-nuclear antibodies / OBSOLETE: Rheumatoid factor-negative JIA without anti-nuclear antibodies", "ORPHA:247868": "NLRP12-associated hereditary periodic fever syndrome / FCAS2 / Familial cold autoinflammatory syndrome type 2 / NAPS12", "ORPHA:247846": "OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies / OBSOLETE: Oligoarticular JIA without anti-nuclear antibodies / OBSOLETE: Pauciarticular chronic arthritis without anti-nuclear antibodies", "ORPHA:247854": "OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies / OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies / OBSOLETE: Polyarthritis without rheumatoid factor with anti-nuclear antibodies / OBSOLETE: Rheumatoid factor-negative JIA with anti-nuclear antibodies", "ORPHA:2454": "OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome / OBSOLETE: Stalker-Chitayat syndrome", "ORPHA:2451": "Mucocutaneous venous malformations / Cutaneous and mucosal venous malformation / VMCM", "ORPHA:2453": "Malpuech syndrome / 3MC3 syndrome / Malpuech facial clefting syndrome", "ORPHA:2439": "Patterson-Stevenson-Fontaine syndrome / Patterson-Stevenson syndrome / Split foot deformity-mandibulofacial dysostosis syndrome", "ORPHA:244305": "Dominant hypophosphatemia with nephrolithiasis or osteoporosis", "ORPHA:244283": "Biliary atresia with splenic malformation syndrome / BASM syndrome", "ORPHA:244275": "De novo thrombotic microangiopathy after kidney transplantation", "ORPHA:1019": "Epstein syndrome / Alport syndrome with macrothrombocytopenia", "ORPHA:243367": "Acute fatty liver of pregnancy / AFLP", "ORPHA:243377": "NON RARE IN EUROPE: Diabetes mellitus type 1 / NON RARE IN EUROPE: Insulin-dependent diabetes mellitus", "ORPHA:243761": "NON RARE IN EUROPE: Essential hypertension", "ORPHA:2419": "Lymphedema-ptosis syndrome", "ORPHA:247353": "Generalized pustular psoriasis / GPP", "ORPHA:247245": "Superficial siderosis / Hemosiderosis of the central nervous system / Superficial hemosiderosis of the CNS / Superficial hemosiderosis of the central nervous system / Superficial siderosis of the CNS / Superficial siderosis of the central nervous system", "ORPHA:247242": "Acquired ataxia", "ORPHA:2486": "Transverse limb deficiency-hemangioma syndrome", "ORPHA:247239": "Non-hereditary degenerative ataxia", "ORPHA:247203": "Collecting duct carcinoma / BDC / Bellini carcinoma / Bellini duct carcinoma / CDC", "ORPHA:247198": "Progressive cerebello-cerebral atrophy / PCCA", "ORPHA:2482": "Melhem-Fahl syndrome", "ORPHA:247165": "Infantile mercury poisoning / Erythroedema polyneuritis / Feer disease / Infantile acrodynia / Infantile mercury intoxication / Pink disease / Swift disease / Swift-Feer disease", "ORPHA:2474": "OBSOLETE: McLain-Dekaban syndrome / OBSOLETE: Intellectual disability-coloboma-slimness syndrome", "ORPHA:2464": "Marfanoid syndrome, De Silva type", "ORPHA:251630": "Anaplastic oligodendroglioma", "ORPHA:251633": "OBSOLETE: Low-grade ependymoma", "ORPHA:2174": "Hunter-Carpenter-McDonald syndrome", "ORPHA:251646": "Anaplastic ependymoma", "ORPHA:251651": "Oligoastrocytic tumor / Mixed oligodendroglial and astrocytic tumor", "ORPHA:251656": "Oligoastrocytoma / MOA / Mixed oligoastrocytoma", "ORPHA:251663": "Anaplastic oligoastrocytoma / aMOA", "ORPHA:2186": "Hydrocephalus-blue sclerae-nephropathy syndrome / Daentl-Townsend-Siegel syndrome", "ORPHA:251668": "Glial tumor of neuroepithelial tissue with unknown origin", "ORPHA:251671": "Angiocentric glioma", "ORPHA:251674": "Chordoid glioma", "ORPHA:251679": "Astroblastoma", "ORPHA:2190": "OBSOLETE: Congenital hydronephrosis", "ORPHA:251852": "Embryonal tumor of neuroepithelial tissue", "ORPHA:251576": "Gliosarcoma", "ORPHA:387": "NON RARE IN EUROPE: Hidradenitis suppurativa / NON RARE IN EUROPE: Acne inversa / NON RARE IN EUROPE: Ectopic acne / NON RARE IN EUROPE: Fox den disease / NON RARE IN EUROPE: Pyoderma fistulans significa / NON RARE IN EUROPE: Verneuil disease", "ORPHA:251561": "High-grade astrocytoma", "ORPHA:251582": "Gliomatosis cerebri", "ORPHA:251579": "Giant cell glioblastoma", "ORPHA:2153": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome / Al Gazali-Donnai-Muller syndrome", "ORPHA:251592": "Low-grade astrocytoma", "ORPHA:251589": "Anaplastic astrocytoma", "ORPHA:251598": "Protoplasmic astrocytoma", "ORPHA:251595": "Diffuse astrocytoma", "ORPHA:2156": "OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome / OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome", "ORPHA:251604": "Gemistocytic astrocytoma", "ORPHA:251601": "Fibrillary astrocytoma", "ORPHA:251612": "Pilocytic astrocytoma", "ORPHA:251607": "Pleomorphic xanthoastrocytoma / PXA", "ORPHA:251618": "Subependymal giant cell astrocytoma / SEGA", "ORPHA:251615": "Pilomyxoid astrocytoma", "ORPHA:251627": "Oligodendroglioma", "ORPHA:251927": "Extraventricular neurocytoma / EVN", "ORPHA:251931": "Cerebellar liponeurocytoma", "ORPHA:251919": "Pineal parenchymal tumor of intermediate differentiation", "ORPHA:251924": "Neuronal tumor", "ORPHA:251940": "Desmoplastic infantile astrocytoma/ganglioglioma / DIA/DIG", "ORPHA:251946": "Dysembryoplastic neuroepithelial tumor / DNET", "ORPHA:2227": "NON RARE IN EUROPE: Hypodontia / NON RARE IN EUROPE: Tooth agenesis", "ORPHA:251934": "Mixed neuronal-glial tumor", "ORPHA:2224": "Hypertryptophanemia", "ORPHA:251962": "Papillary glioneuronal tumor / PGNT / Pseudopapillary ganglioglioneurocytoma / Pseudopapillary neurocytoma with glial differentiation", "ORPHA:251975": "Rosette-forming glioneuronal tumor / RGNT", "ORPHA:2230": "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome / Salti-Salem syndrome", "ORPHA:251949": "Ganglioglioma", "ORPHA:251957": "Anaplastic ganglioglioma", "ORPHA:252006": "Yolk sac tumor of central nervous system / Endodermal sinus tumor of CNS / Endodermal sinus tumor of central nervous system / Intracranial endodermal sinus tumor / Intracranial yolk sac tumor / Yolk sac tumor of CNS", "ORPHA:252015": "Choriocarcinoma of the central nervous system", "ORPHA:251995": "Primary germ cell tumor of central nervous system / Primary germ cell tumor of CNS", "ORPHA:251867": "Classic medulloblastoma", "ORPHA:251863": "Desmoplastic/nodular medulloblastoma", "ORPHA:251858": "Medulloblastoma with extensive nodularity / MBEN", "ORPHA:251855": "Anaplastic/large cell medulloblastoma", "ORPHA:251883": "Medulloepithelioma of the central nervous system", "ORPHA:251880": "Ependymoblastoma", "ORPHA:251877": "Ganglioneuroblastoma", "ORPHA:251870": "Central nervous system embryonal tumor / CNS PNET / Central nervous system primitive neuroectodermal tumor", "ORPHA:251902": "Atypical papilloma of choroid plexus / Atypical CPP / Atypical choroid plexus papilloma", "ORPHA:251899": "Choroid plexus carcinoma", "ORPHA:251896": "Choroid plexus tumor", "ORPHA:251891": "OBSOLETE: Atypical teratoid/rhabdoid tumor / OBSOLETE: AT/RT", "ORPHA:251905": "Pineal tumor of neuroepithelial tissue", "ORPHA:251028": "SATB2-associated syndrome due to a chromosomal rearrangement / 2q33.1 microdeletion syndrome / Del(2)(q33.1) / Monosomy 2q33.1", "ORPHA:2267": "OBSOLETE: Ichthyosis-cheek-eyebrow syndrome / OBSOLETE: Sidransky-Feinstein-Goodman syndrome", "ORPHA:251061": "7q31 microdeletion syndrome / Del(7)(q31) / Monosomy 7q31", "ORPHA:2272": "Ichthyosis-oral and digital anomalies syndrome / Clayton Smith-Donnai syndrome", "ORPHA:251043": "Ring chromosome 5 syndrome / Ring 5", "ORPHA:165": "Neutral lipid storage disease / Lipidosis with triglyceride storage disease", "ORPHA:139": "CHILD syndrome / CHILD nevus / Congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "ORPHA:250808": "Serpinopathy with toxic serpin polymerization", "ORPHA:2245": "OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome", "ORPHA:250805": "Serpinopathy", "ORPHA:250831": "Logopenic progressive aphasia / Logopenic primary progressive aphasia / Logopenic variant PPA", "ORPHA:658574": "LPA / PAS / Isolated pulmonary artery sling / Isolated anomalous left pulmonary artery / Isolated left pulmonary artery sling", "ORPHA:250811": "Serpinopathy with loss of serpin function", "ORPHA:2243": "Hypopituitarism-micropenis-cleft lip/palate syndrome", "ORPHA:2258": "OBSOLETE: Congenital unilateral pulmonary hypoplasia", "ORPHA:250908": "Rare neoplastic disease / Rare tumoral disease", "ORPHA:250932": "Autosomal dominant optic atrophy and peripheral neuropathy", "ORPHA:251380": "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome / HPFH-sickle cell disease syndrome", "ORPHA:251370": "Sickle cell-hemoglobin D disease syndrome / HbSD disease", "ORPHA:251375": "Sickle cell-hemoglobin E disease syndrome / HbSE disease", "ORPHA:251359": "Sickle cell-beta-thalassemia disease syndrome / HbS-beta-thalassemia syndrome", "ORPHA:251365": "Sickle cell-hemoglobin C disease syndrome / HbSC disease", "ORPHA:251355": "Sickle cell disease associated with another hemoglobin anomaly / Double heterozygotes sickling disorder", "ORPHA:251535": "Maternal disease-related embryofetopathy", "ORPHA:251558": "Rare tumor of neuroepithelial tissue", "ORPHA:251523": "Hyperzincemia and hypercalprotectinemia / Hz/Hc / PAMI syndrome / PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome", "ORPHA:251529": "Toxic or drug-related embryofetopathy", "ORPHA:251515": "Distal arthrogryposis type 10 / DA10 / Plantar flexion contracture / Short Achilles tendon / Short tendo calcaneus", "ORPHA:251393": "Localized junctional epidermolysis bullosa / JEB-nH loc / Junctional epidermolysis bullosa, non-Herlitz localized type / Localized JEB", "ORPHA:251295": "Pigmented paravenous retinochoroidal atrophy / PPRCA", "ORPHA:251290": "Parietal foramina with clavicular hypoplasia / Parietal foramina with cleidocranial dysplasia", "ORPHA:251287": "Benign concentric annular macular dystrophy", "ORPHA:251279": "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome / Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome", "ORPHA:251262": "Familial osteochondritis dissecans / Osteochondritis dissecans and short stature", "ORPHA:251332": "Unexplained long-lasting fever/inflammatory syndrome / Persistent fever/inflammation of unknown origin", "ORPHA:251328": "Unclassified vasculitis", "ORPHA:251325": "Drug-induced vasculitis", "ORPHA:251316": "OBSOLETE: Unclassified overlapping connective tissue disease", "ORPHA:251312": "Overlapping connective tissue disease", "ORPHA:251307": "Idiopathic recurrent pericarditis / Idiopathic relapsing pericarditis", "ORPHA:2286": "OBSOLETE: Solitary median maxillary central incisor syndrome / OBSOLETE: SMMCI / OBSOLETE: Single upper central incisor", "ORPHA:251304": "Infantile onset panniculitis with uveitis and systemic granulomatosis", "ORPHA:2675": "OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome / OBSOLETE: Maccario-Mena syndrome", "ORPHA:254843": "Exercise intolerance with lactic acidosis", "ORPHA:2674": "Cyprus facial-neuromusculoskeletal syndrome", "ORPHA:254846": "Isolated oxidative phosphorylation complex disorder / Isolated respiratory chain complex disorder", "ORPHA:254837": "Unspecified mitochondrial disorder", "ORPHA:2679": "OBSOLETE: Infantile axonal neuropathy", "ORPHA:2676": "Neuroectodermal-endocrine syndrome / Oerter-Friedman-Anderson syndrome", "ORPHA:254851": "Mitochondrial DNA-related dystonia / Maternally-inherited mitochondrial dystonia / mtDNA-related dystonia", "ORPHA:254807": "Multiple mitochondrial DNA deletion syndrome / Multiple mtDNA deletion syndrome", "ORPHA:254818": "Ataxia neuropathy spectrum", "ORPHA:254793": "OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA / OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA / OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA / OBSOLETE: OXPHOS disease due to a duplication of mtDNA", "ORPHA:2661": "Dwarfism-tall vertebrae syndrome", "ORPHA:254803": "Mitochondrial DNA depletion syndrome, encephalomyopathic form / mtDNA depletion syndrome, encephalomyopathic form", "ORPHA:254830": "Mitochondrial substrate carrier disorder", "ORPHA:254834": "Mitochondrial protein import disorder", "ORPHA:2670": "Pierson syndrome / Microcoria-congenital nephrosis syndrome", "ORPHA:254822": "Mitochondrial oxidative phosphorylation disorder with no known mechanism / OXPHOS disease with no known mechanism", "ORPHA:254827": "Mitochondrial membrane transport disorder", "ORPHA:254925": "Combined oxidative phosphorylation defect type 4 / COXPD4", "ORPHA:2697": "Arthrogryposis-renal dysfunction-cholestasis syndrome / ARC syndrome", "ORPHA:2694": "OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome", "ORPHA:254920": "Combined oxidative phosphorylation defect type 2 / COXPD2", "ORPHA:254913": "Isolated ATP synthase deficiency / Isolated mitochondrial respiratory chain complex V deficiency", "ORPHA:255132": "Adult-onset autosomal recessive sideroblastic anemia / GLRX5-related sideroblastic anemia", "ORPHA:255117": "OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness", "ORPHA:2699": "Median nodule of the upper lip", "ORPHA:254881": "Spinocerebellar ataxia with epilepsy / MSCAE / Mitochondrial spinocerebellar ataxia with epilepsy", "ORPHA:254871": "Mitochondrial DNA depletion syndrome, hepatocerebral form / Deoxyguanosine kinase deficiency / mtDNA depletion syndrome, hepatocerebral form", "ORPHA:254905": "Isolated cytochrome C oxidase deficiency / Isolated COX deficiency / Isolated mitochondrial respiratory chain complex IV deficiency", "ORPHA:254902": "Renal tubulopathy-encephalopathy-liver failure syndrome", "ORPHA:254898": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome / Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome", "ORPHA:2691": "Nevo syndrome / Cerebral gigantism, Nevo type", "ORPHA:2713": "Oculoosteocutaneous syndrome", "ORPHA:2716": "OBSOLETE: Oculo-skeletal-renal syndrome", "ORPHA:2718": "Oculotrichodysplasia / Cecato de Lima-Pinheiro syndrome", "ORPHA:255199": "OBSOLETE: Sporadic Leigh syndrome / OBSOLETE: Sporadic Leigh disease / OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy", "ORPHA:2706": "OBSOLETE: Oculocerebroacral syndrome", "ORPHA:2705": "OBSOLETE: Oculocerebral dysplasia / OBSOLETE: Behrens-Baumann-Vogel syndrome / OBSOLETE: Microphthalmia-optic nerve aplasia syndrome", "ORPHA:255225": "OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy", "ORPHA:2708": "OBSOLETE: Oculocerebroosseous syndrome / OBSOLETE: Plum syndrome", "ORPHA:255229": "Navajo neurohepatopathy / Navajo neuropathy", "ORPHA:255235": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy / mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy", "ORPHA:2709": "Oculodental syndrome, Rutherfurd type / Gingival hypertrophy-corneal dystrophy / Rutherfurd syndrome", "ORPHA:2731": "Taurodontia-absent teeth-sparse hair syndrome", "ORPHA:2733": "Omodysplasia", "ORPHA:2721": "Odonto-onycho-dermal dysplasia / OODD", "ORPHA:2723": "Odontotrichomelic syndrome / Freire-Maia syndrome", "ORPHA:260305": "Autosomal recessive sideroblastic anemia / ARSA / Congenital sideroblastic anemia", "ORPHA:2755": "Orofaciodigital syndrome type 8 / OFD8 / Oral-facial-digital syndrome type 8 / Oral-facial-digital syndrome, Edwards type / Orofaciodigital syndrome, Edwards type", "ORPHA:252128": "Malignant peripheral nerve sheath tumor with perineurial differentiation / Malignant perineurioma", "ORPHA:252131": "Benign peripheral nerve sheath tumor / BPNST", "ORPHA:252057": "Tumor of cranial and spinal nerves / Rare tumor of cranial and spinal nerves", "ORPHA:252050": "Primary melanoma of the central nervous system / Malignant melanoma of meninges / Primary melanoma of the CNS", "ORPHA:2742": "OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome", "ORPHA:252031": "Diffuse leptomeningeal melanocytosis / DLM / Leptomeningeal melanomatosis", "ORPHA:252046": "Meningeal melanocytoma", "ORPHA:252025": "Tumor of meninges", "ORPHA:2739": "Onycho-tricho-dysplasia-neutropenia syndrome / Itin syndrome / ONMR syndrome / Trichothiodystrophy type G", "ORPHA:252028": "Primary melanocytic tumor of central nervous system / Primary melanocytic lesion of CNS / Primary melanocytic lesion of central nervous system / Primary melanocytic tumor of CNS", "ORPHA:252018": "Teratoma of the central nervous system", "ORPHA:252021": "Mixed germ cell tumor of central nervous system / Mixed germ cell tumor of CNS", "ORPHA:254367": "Rare lichen planus / Rare LP", "ORPHA:2775": "Autosomal recessive carpotarsal osteolysis / Hereditary multicentric osteolysis", "ORPHA:2767": "Carpotarsal osteochondromatosis / Maroteaux-Le Merrer-Bensahel syndrome", "ORPHA:254334": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B / RI-CMT type B", "ORPHA:2765": "OBSOLETE: Hypertrichotic osteochondrodysplasia", "ORPHA:252212": "Malignant triton tumor / MPNST with rhabdomyosarcomatous differentiation / MTT / Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation", "ORPHA:2763": "Osteocraniostenosis / Gracile bone dysplasia / Osteocraniosplenic syndrome", "ORPHA:252206": "Melanoma and neural system tumor syndrome / Melanoma-astrocytoma syndrome", "ORPHA:252202": "Constitutional mismatch repair deficiency syndrome / CMMR-D syndrome", "ORPHA:252190": "Inherited nervous system cancer-predisposing syndrome", "ORPHA:252175": "Vestibular schwannoma / Acoustic neurilemoma / Acoustic neurinoma / Acoustic neuroma", "ORPHA:254525": "Temple syndrome due to paternal 14q32.2 microdeletion / Paternal del(14)(q32.2)", "ORPHA:254528": "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion / Maternal del(14)(q32.2) / Maternal monosomy 14q32.2", "ORPHA:254492": "Frontal fibrosing alopecia / FFA", "ORPHA:254411": "Annular atrophic lichen planus / Annular atrophic LP", "ORPHA:254424": "Annular lichen planus / Annular LP", "ORPHA:2783": "Autosomal dominant osteopetrosis type 1", "ORPHA:254449": "Atrophic lichen planus / Atrophic LP", "ORPHA:254463": "Lichen planus pigmentosus / LP pigmentosa / LP pigmentosus / Lichen planus pigmentosa / Lichen planus pigmentosus inversus", "ORPHA:254370": "Rare cutaneous lichen planus / Rare cutaneous LP", "ORPHA:254373": "Rare mucosal lichen planus / Rare mucosal LP", "ORPHA:254379": "Linear lichen planus / Blaschkoid LP / Blaschkoid lichen planus / Linear LP", "ORPHA:254395": "Actinic lichen planus / Actinic LP / Lichen planus actinus / Lichen planus subtropicus / Lichen planus tropicus / Lichenoid melanodermatitis / Summertime actinic lichenoid eruption", "ORPHA:254767": "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA / Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA / OXPHOS disease due to a large-scale single deletion of mitochondrial DNA / OXPHOS disease due to a large-scale single deletion of mtDNA", "ORPHA:2823": "OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome / OBSOLETE: Fitzsimmons-Guilbert syndrome", "ORPHA:254758": "Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies / Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies / OXPHOS disease due to mitochondrial DNA anomalies / OXPHOS disease due to mtDNA anomalies", "ORPHA:2816": "Spastic paraplegia-epilepsy-intellectual disability syndrome / SPEMR", "ORPHA:254788": "Mitochondrial DNA-related mitochondrial myopathy / Maternally-inherited mitochondrial myopathy / mtDNA-related mitochondrial myopathy", "ORPHA:254776": "Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA / Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA / OXPHOS disease due to a point mutation of mitochondrial DNA / OXPHOS disease due to a point mutation of mtDNA", "ORPHA:254723": "Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome / PHID", "ORPHA:254712": "Familial sinus histiocytosis with massive lymphadenopathy / Familial Rosaï-Dorfman disease / Familial SHML", "ORPHA:2809": "Familial recurrent peripheral facial palsy / Familial recurrent Bell palsy", "ORPHA:254749": "Tricarboxylic acid cycle disorder / Citric acid cycle disorder / Krebs cycle disorder / TCA cycle disorder", "ORPHA:254746": "Pyruvate metabolism disorder", "ORPHA:2805": "Partial pancreatic agenesis / Congenital pancreatic agenesis / Partial agenesis of the pancreas", "ORPHA:254698": "Epithelioid trophoblastic tumor", "ORPHA:254693": "Partial hydatidiform mole / Incomplete hydatidiform mole / Incomplete molar pregnancy / Partial molar pregnancy", "ORPHA:254707": "Faisalabad histiocytosis / FHC", "ORPHA:254534": "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation", "ORPHA:254531": "Temple syndrome due to paternal 14q32.2 hypomethylation", "ORPHA:254688": "Complete hydatidiform mole / Complete molar pregnancy", "ORPHA:254685": "Gestational trophoblastic disease", "ORPHA:261718": "OBSOLETE: Anomaly of chromosome 8", "ORPHA:619": "NON RARE IN EUROPE: Primary ovarian failure / NON RARE IN EUROPE: Hypergonadotropic ovarian failure / NON RARE IN EUROPE: Premature menopause / NON RARE IN EUROPE: Premature ovarian failure / NON RARE IN EUROPE: Premature ovarian insufficiency / NON RARE IN EUROPE: Primary ovarian insufficiency", "ORPHA:261715": "OBSOLETE: Anomaly of chromosome 7", "ORPHA:261712": "OBSOLETE: Anomaly of chromosome 6", "ORPHA:261709": "OBSOLETE: Anomaly of chromosome 5", "ORPHA:2498": "Syndactyly type 8 / Fusion of metacarpals 4 and 5", "ORPHA:261730": "OBSOLETE: Anomaly of chromosome 11", "ORPHA:261724": "OBSOLETE: Anomaly of chromosome 10", "ORPHA:261721": "OBSOLETE: Anomaly of chromosome 9", "ORPHA:261742": "OBSOLETE: Anomaly of chromosome 15", "ORPHA:261739": "OBSOLETE: Anomaly of chromosome 14", "ORPHA:261736": "OBSOLETE: Anomaly of chromosome 13", "ORPHA:261733": "OBSOLETE: Anomaly of chromosome 12", "ORPHA:261754": "OBSOLETE: Anomaly of chromosome 19", "ORPHA:2506": "Michels syndrome / 3MC1 syndrome / Oculopalatoskeletal syndrome", "ORPHA:2507": "OBSOLETE: Mickleson syndrome", "ORPHA:261751": "OBSOLETE: Anomaly of chromosome 18", "ORPHA:261748": "OBSOLETE: Anomaly of chromosome 17", "ORPHA:2504": "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome", "ORPHA:261745": "OBSOLETE: Anomaly of chromosome 16", "ORPHA:261763": "OBSOLETE: Anomaly of chromosome 22", "ORPHA:261766": "Partial deletion of chromosome 1 syndrome / Partial monosomy of chromosome 1", "ORPHA:261757": "OBSOLETE: Anomaly of chromosome 20", "ORPHA:261760": "OBSOLETE: Anomaly of chromosome 21", "ORPHA:261781": "Partial deletion of chromosome 4 syndrome / Partial monosomy of chromosome 4", "ORPHA:261786": "Partial deletion of chromosome 5 syndrome / Partial monosomy of chromosome 5", "ORPHA:261771": "Partial deletion of chromosome 2 syndrome / Partial monosomy of chromosome 2", "ORPHA:261776": "Partial deletion of chromosome 3 syndrome / Partial monosomy of chromosome 3", "ORPHA:261801": "Partial deletion of chromosome 8 syndrome / Partial monosomy of chromosome 8", "ORPHA:261806": "Partial deletion of chromosome 9 syndrome / Partial monosomy of chromosome 9", "ORPHA:261791": "Partial deletion of chromosome 6 syndrome / Partial monosomy of chromosome 6", "ORPHA:261796": "Partial deletion of chromosome 7 syndrome / Partial monosomy of chromosome 7", "ORPHA:261821": "Partial deletion of the long arm of chromosome 12 syndrome / Partial deletion of chromosome 12q / Partial monosomy of chromosome 12q / Partial monosomy of the long arm of chromosome 12", "ORPHA:2524": "Pontocerebellar hypoplasia type 2 / PCH2", "ORPHA:261826": "Partial deletion of chromosome 16 syndrome / Partial monosomy of chromosome 16", "ORPHA:261811": "Partial deletion of chromosome 10 syndrome / Partial monosomy of chromosome 10", "ORPHA:261816": "Partial deletion of chromosome 11 syndrome / Partial monosomy of chromosome 11", "ORPHA:261836": "Partial deletion of chromosome 18 syndrome / Partial monosomy of chromosome 18", "ORPHA:261831": "Partial deletion of chromosome 17 syndrome / Partial monosomy of chromosome 17", "ORPHA:261846": "Partial deletion of chromosome 20 syndrome / Partial monosomy of chromosome 20", "ORPHA:261841": "Partial deletion of chromosome 19 syndrome / Partial monosomy of chromosome 19", "ORPHA:261866": "Partial deletion of the short arm of chromosome 2 syndrome / Partial deletion of chromosome 2p / Partial monosomy of chromosome 2p / Partial monosomy of the short arm of chromosome 2", "ORPHA:261857": "Partial deletion of the short arm of chromosome 1 syndrome / Partial deletion of chromosome 1p / Partial monosomy of chromosome 1p / Partial monosomy of the short arm of chromosome 1", "ORPHA:261884": "Partial deletion of the short arm of chromosome 4 syndrome / Partial deletion of chromosome 4p / Partial monosomy of chromosome 4p / Partial monosomy of the short arm of chromosome 4", "ORPHA:261875": "Partial deletion of the short arm of chromosome 3 syndrome / Partial deletion of chromosome 3p / Partial monosomy of chromosome 3p / Partial monosomy of the short arm of chromosome 3", "ORPHA:2535": "OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome", "ORPHA:261902": "Partial deletion of the short arm of chromosome 6 syndrome / Partial deletion of chromosome 6p / Partial monosomy of chromosome 6p / Partial monosomy of the short arm of chromosome 6", "ORPHA:261893": "Partial deletion of the short arm of chromosome 5 syndrome / Partial deletion of chromosome 5p / Partial monosomy of chromosome 5p / Partial monosomy of the short arm of chromosome 5", "ORPHA:261920": "Partial deletion of the short arm of chromosome 8 syndrome / Partial deletion of chromosome 8p / Partial monosomy of chromosome 8p / Partial monosomy of the short arm of chromosome 8", "ORPHA:261938": "Partial deletion of the short arm of chromosome 10 syndrome / Partial deletion of chromosome 10p / Partial monosomy of chromosome 10p / Partial monosomy of the short arm of chromosome 10", "ORPHA:261929": "Partial deletion of the short arm of chromosome 9 syndrome / Partial deletion of chromosome 9p / Partial monosomy of chromosome 9p / Partial monosomy of the short arm of chromosome 9", "ORPHA:261956": "Partial deletion of the short arm of chromosome 16 syndrome / Partial deletion of chromosome 16p / Partial monosomy of chromosome 16p / Partial monosomy of the short arm of chromosome 16", "ORPHA:2543": "OBSOLETE: Microphthalmia-cataract syndrome / OBSOLETE: Congenital cataract-microphthalmia syndrome", "ORPHA:261947": "Partial deletion of the short arm of chromosome 11 syndrome / Partial deletion of chromosome 11p / Partial monosomy of chromosome 11p / Partial monosomy of the short arm of chromosome 11", "ORPHA:261965": "Partial deletion of the short arm of chromosome 17 syndrome / Partial deletion of chromosome 17p / Partial monosomy of chromosome 17p / Partial monosomy of the short arm of chromosome 17", "ORPHA:261974": "Partial deletion of the short arm of chromosome 18 syndrome / Partial deletion of chromosome 18p / Partial monosomy of chromosome 18p / Partial monosomy of the short arm of chromosome 18", "ORPHA:261983": "Partial deletion of the short arm of chromosome 19 syndrome / Partial deletion of chromosome 19p / Partial monosomy of chromosome 19p / Partial monosomy of the short arm of chromosome 19", "ORPHA:2551": "Microspherophakia-metaphyseal dysplasia syndrome / Verloes-Van Maldergem-de Marneffe syndrome", "ORPHA:261992": "Partial deletion of the short arm of chromosome 20 syndrome / Partial deletion of chromosome 20p / Partial monosomy of chromosome 20p / Partial monosomy of the short arm of chromosome 20 / Pure partial 20p deletion", "ORPHA:262001": "Partial deletion of the long arm of chromosome 1 syndrome / Partial deletion of chromosome 1q / Partial monosomy of chromosome 1q / Partial monosomy of the long arm of chromosome 1", "ORPHA:262010": "Partial deletion of the long arm of chromosome 2 syndrome / Partial deletion of chromosome 2q / Partial monosomy of chromosome 2q / Partial monosomy of the long arm of chromosome 2", "ORPHA:262019": "Partial deletion of the long arm of chromosome 3 syndrome / Partial deletion of chromosome 3q / Partial monosomy of chromosome 3q / Partial monosomy of the long arm of chromosome 3", "ORPHA:262029": "Partial deletion of the long arm of chromosome 4 syndrome / Partial deletion of chromosome 4q / Partial monosomy of chromosome 4q / Partial monosomy of the long arm of chromosome 4", "ORPHA:262038": "Partial deletion of the long arm of chromosome 5 syndrome / Partial deletion of chromosome 5q / Partial monosomy of chromosome 5q / Partial monosomy of the long arm of chromosome 5", "ORPHA:2558": "Mikati-Najjar-Sahli syndrome / Microcephaly-hypergonadotropic hypogonadism-short stature syndrome", "ORPHA:262047": "Partial deletion of the long arm of chromosome 6 syndrome / Partial deletion of chromosome 6q / Partial monosomy of chromosome 6q / Partial monosomy of the long arm of chromosome 6", "ORPHA:2561": "Pyramidal molars-abnormal upper lip syndrome / Ackerman fused molar roots syndrome", "ORPHA:262056": "Partial deletion of the long arm of chromosome 7 syndrome / Partial deletion of chromosome 7q / Partial monosomy of chromosome 7q / Partial monosomy of the long arm of chromosome 7", "ORPHA:262065": "Partial deletion of the long arm of chromosome 8 syndrome / Partial deletion of chromosome 8q / Partial monosomy of chromosome 8q / Partial monosomy of the long arm of chromosome 8", "ORPHA:262074": "Partial deletion of the long arm of chromosome 9 syndrome / Partial deletion of chromosome 9q / Partial monosomy of chromosome 9q / Partial monosomy of the long arm of chromosome 9", "ORPHA:262083": "Partial deletion of the long arm of chromosome 10 syndrome / Partial deletion of chromosome 10q / Partial monosomy of chromosome 10q / Partial monosomy of the long arm of chromosome 10", "ORPHA:262092": "Partial deletion of the long arm of chromosome 11 syndrome / Partial deletion of chromosome 11q / Partial monosomy of chromosome 11q / Partial monosomy of the long arm of chromosome 11", "ORPHA:262101": "Partial deletion of the long arm of chromosome 13 syndrome / Partial deletion of chromosome 13q / Partial monosomy of chromosome 13q / Partial monosomy of the long arm of chromosome 13", "ORPHA:2565": "Mononen-Karnes-Senac syndrome / Skeletal dysplasia-brachydactyly syndrome", "ORPHA:2569": "Moore-Federman syndrome / Dwarfism-stiff joint-ocular abnormalities syndrome", "ORPHA:2580": "OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome", "ORPHA:261229": "14q11.2 microduplication syndrome / Dup(14)(q11.2) / Trisomy 14q11.2", "ORPHA:2621": "OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome / OBSOLETE: Christian-Rosenberg syndrome", "ORPHA:261257": "Distal 17p13.3 microdeletion syndrome / Distal del(17)(p13.3 ) / Distal monosomy 17p13.3", "ORPHA:2623": "Geleophysic dysplasia / Geleophysic dwarfism", "ORPHA:2640": "Lethal short-limb dwarfism, McAlister-Crane type / McAlister-Crane syndrome", "ORPHA:2641": "OBSOLETE: Micromelic dwarfism, Fryns type", "ORPHA:261512": "OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 / OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion / OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)", "ORPHA:261501": "Atypical Norrie disease due to Xp11.3 microdeletion / Atypical Norrie disease due to del(X)(p11.3) / Atypical Norrie disease due to nullisomy Xp11.3", "ORPHA:2646": "Parastremmatic dysplasia / Parastremmatic dwarfism", "ORPHA:261579": "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations / OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations / OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV", "ORPHA:261600": "Alagille syndrome due to 20p12 microdeletion / Alagille syndrome due to del(20)(p12) / Alagille syndrome due to monosomy 20p12 / Alagille-Watson syndrome due to monosomy 20p12 / Arteriohepatic dysplasia due to monosomy 20p12 / Syndromic bile duct paucity due to monosomy 20p12", "ORPHA:261619": "Alagille syndrome due to a JAG1 point mutation / Alagille-Watson syndrome due to a JAG1 point mutation / Arteriohepatic dysplasia due to a JAG1 point mutation / Syndromic bile duct paucity due to a JAG1 point mutation", "ORPHA:261537": "Mowat-Wilson syndrome due to monosomy 2q22 / Hirschsprung disease and intellectual disability due to 2q22 microdeletion / Hirschsprung disease and intellectual disability due to del(2)(q22) / Hirschsprung disease and intellectual disability due to monosomy 2q22 / Mowat-Wilson syndrome due to 2q22 microdeletion / Mowat-Wilson syndrome due to del(2)q(22)", "ORPHA:261552": "Mowat-Wilson syndrome due to a ZEB2 point mutation / Hirschsprung disease and intellectual disability due to a ZEB2 point mutation", "ORPHA:261559": "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome", "ORPHA:261572": "OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome / OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation", "ORPHA:261697": "OBSOLETE: Anomaly of chromosome 1", "ORPHA:261700": "OBSOLETE: Anomaly of chromosome 2", "ORPHA:261703": "OBSOLETE: Anomaly of chromosome 3", "ORPHA:261706": "OBSOLETE: Anomaly of chromosome 4", "ORPHA:261629": "Alagille syndrome due to a NOTCH2 point mutation / Alagille-Watson syndrome due to a NOTCH2 point mutation / Arteriohepatic dysplasia due to a NOTCH2 point mutation / Syndromic bile duct paucity due to a NOTCH2 point mutation", "ORPHA:261638": "Okihiro syndrome due to 20q13 microdeletion / Duane-radial ray syndrome due to monosomy 20q13 / Okihiro syndrome due to del(20)(q13) / Okihiro syndrome due to monosomy 20q13", "ORPHA:2650": "OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome / OBSOLETE: Mollica-Pavone-Antener syndrome", "ORPHA:261647": "Okihiro syndrome due to a point mutation / Duane-radial ray syndrome due to a point mutation", "ORPHA:2654": "Syndesmodysplasic dwarfism / Laplane-Fontaine-Lagardere syndrome", "ORPHA:261652": "Kleefstra syndrome due to a point mutation", "ORPHA:3061": "OBSOLETE: X-linked intellectual disability, Raynaud type", "ORPHA:263798": "OBSOLETE: Y chromosomal anomaly", "ORPHA:3062": "OBSOLETE: X-linked intellectual disability, Schutz type", "ORPHA:3059": "X-linked intellectual disability, Gu type / MRX35", "ORPHA:263793": "Uniparental disomy of chromosome X syndrome / UPD(X)", "ORPHA:263783": "Partial duplication of the long arm of chromosome X syndrome / Partial duplication of chromosome Xq / Partial trisomy of chromosome Xq / Partial trisomy of the long arm of chromosome X", "ORPHA:3056": "X-linked intellectual disability, Brooks type", "ORPHA:263775": "Partial duplication of the short arm of chromosome X syndrome / Partial duplication of chromosome Xp / Partial trisomy of chromosome Xp / Partial trisomy of the short arm of chromosome X", "ORPHA:263768": "Partial duplication of chromosome X syndrome / Partial trisomy of chromosome X", "ORPHA:775": "OBSOLETE: X-linked intellectual disability, Martinez type", "ORPHA:263756": "Partial deletion of the long arm of chromosome X syndrome / Partial deletion of chromosome Xq / Partial monosomy of chromosome Xq / Partial monosomy of the long arm of chromosome X", "ORPHA:263749": "X and Y chromosomal anomaly syndrome", "ORPHA:263746": "Y chromosome number anomaly syndrome", "ORPHA:3050": "OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome / OBSOLETE: Medrano-Roldan syndrome", "ORPHA:263731": "Partial deletion of the short arm of the chromosome X syndrome / Partial deletion of chromosome Xp / Partial deletion of the short arm of chromosome X / Partial monosomy of chromosome Xp / Partial monosomy of the short arm of chromosome X", "ORPHA:3046": "OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type / OBSOLETE: Davis-Lafer syndrome", "ORPHA:263726": "Partial deletion of chromosome X syndrome / Partial monosomy of chromosome X", "ORPHA:263723": "Polysomy of X chromosome syndrome", "ORPHA:3043": "OBSOLETE: Intellectual disability-unusual facies syndrome / OBSOLETE: Morillo Cucci-Passarge syndrome", "ORPHA:263720": "X chromosome number anomaly with male phenotype syndrome", "ORPHA:263714": "X chromosome number anomaly syndrome", "ORPHA:263717": "X chromosome number anomaly with female phenotype syndrome", "ORPHA:263708": "Complex chromosomal rearrangement syndrome", "ORPHA:263711": "OBSOLETE: X chromosome anomaly", "ORPHA:263676": "OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features", "ORPHA:263558": "OBSOLETE: Peeling skin syndrome type C / OBSOLETE: Generalized deciduous skin type C / OBSOLETE: Generalized peeling skin syndrome type C", "ORPHA:263662": "Familial multiple meningioma", "ORPHA:263548": "Peeling skin syndrome type A / Generalized peeling skin syndrome type A / Non-inflammatory generalized peeling skin syndrome type A. / Non-inflammatory peeling skin syndrome type A / PSS type A", "ORPHA:263553": "Peeling skin syndrome type B / Generalized peeling skin disease type B / Generalized peeling skin syndrome type B / Inflammatory peeling skin disease / Inflammatory peeling skin syndrome / PSS type B / PSS1 / Peeling skin syndrome 1", "ORPHA:263543": "Generalized peeling skin syndrome / Generalized PSS / Generalized deciduous skin", "ORPHA:3029": "NON RARE IN EUROPE: Horseshoe kidney", "ORPHA:263524": "Acute necrotizing encephalopathy of childhood / ANEC / Isolated ANE / Isolated acute necrotizing encephalopathy", "ORPHA:3026": "Radial ray hypoplasia-choanal atresia syndrome / Goldblatt-Viljoen syndrome", "ORPHA:263482": "Spondyloepimetaphyseal dysplasia, Maroteaux type / Pseudo-Morquio syndrome type 2 / Pseudo-Morquio type II syndrome / SEMD, Maroteaux type / SEMD-M", "ORPHA:3021": "RAPADILINO syndrome", "ORPHA:3022": "Rapp-Hodgkin syndrome / Anhidrotic ectodermic dysplasia-cleft lip/palate syndrome / Ectodermal dysplasia syndrome, Rapp-Hodgkin type / Ectodermal dysplasia, Rapp-Hodgkin type / RHS", "ORPHA:263479": "Fuchs heterochromic iridocyclitis", "ORPHA:276525": "FHI / Familial hyperinsulinism / Familial hyperinsulinemic hypoglycemia", "ORPHA:3018": "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome / Rambaud-Gallian syndrome / Rambaud-Gallian-Touchard syndrome", "ORPHA:263432": "Nevus of Ito / Nevus fuscocaeruleus acromiodeltoideus", "ORPHA:263425": "Nevus of Ota / Nevus fusculoceruleus ophthalmomaxillaris", "ORPHA:263440": "Neuroacanthocytosis", "ORPHA:263435": "Congenital smooth muscle hamartoma", "ORPHA:263355": "OBSOLETE: ATR-X-related syndrome", "ORPHA:263417": "Bartter syndrome with hypocalcemia", "ORPHA:263413": "Angiosarcoma", "ORPHA:263335": "Moderately-differentiated thymic neuroendocrine carcinoma", "ORPHA:263339": "Poorly differentiated thymic neuroendocrine carcinoma", "ORPHA:3005": "Pyle disease / Metaphyseal dysplasia, Pyle type / SFRP4-related Pyle disease", "ORPHA:263347": "MRCS syndrome / Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome", "ORPHA:263352": "Postcardiotomy right ventricular failure", "ORPHA:263310": "Thymoma type A / Primary thymic epithelial neoplasm type A / Primary thymic epithelial tumor type A", "ORPHA:263317": "Thymoma type B / Primary thymic epithelial neoplasm type B / Primary thymic epithelial tumor type B", "ORPHA:263324": "Thymoma type AB / Primary thymic epithelial neoplasm type AB / Primary thymic epithelial tumor type AB", "ORPHA:2999": "Ptosis-strabismus-ectopic pupils syndrome / McPherson-Hall syndrome", "ORPHA:263331": "Well-differentiated thymic neuroendocrine carcinoma", "ORPHA:2998": "Carnevale syndrome / 3MC2 syndrome / Carnevale-Krajewska-Fischetto syndrome / Mingarelli syndrome / OSA syndrome / Oculo-skeletal-abdominal syndrome / Ptosis-strabismus-rectus abdominis diastasis syndrome", "ORPHA:263054": "OBSOLETE: Uniparental disomy of chromosome 15 / OBSOLETE: UPD(15)", "ORPHA:263059": "OBSOLETE: Uniparental disomy of chromosome 20 / OBSOLETE: UPD(20)", "ORPHA:263064": "OBSOLETE: Uniparental disomy of chromosome 21 / OBSOLETE: UPD(21)", "ORPHA:263034": "OBSOLETE: Uniparental disomy of chromosome 11 / OBSOLETE: UPD(11)", "ORPHA:2987": "Antecubital pterygium syndrome", "ORPHA:263044": "OBSOLETE: Uniparental disomy of chromosome 13 / OBSOLETE: UPD(13)", "ORPHA:263049": "OBSOLETE: Uniparental disomy of chromosome 14 / OBSOLETE: UPD(14)", "ORPHA:262995": "Partial duplication of the long arm of chromosome 20 syndrome / Partial duplication of chromosome 20q / Partial trisomy of chromosome 20q / Partial trisomy of the long arm of chromosome 20", "ORPHA:262986": "Partial duplication of the long arm of chromosome 19 syndrome / Partial duplication of chromosome 19q / Partial trisomy of chromosome 19q / Partial trisomy of the long arm of chromosome 19", "ORPHA:262977": "Partial duplication of the long arm of chromosome 18 syndrome / Partial duplication of chromosome 18q / Partial trisomy of chromosome 18q / Partial trisomy of the long arm of chromosome 18", "ORPHA:262968": "Partial duplication of the long arm of chromosome 17 syndrome / Partial duplication of chromosome 17q / Partial trisomy of chromosome 17q / Partial trisomy of the long arm of chromosome 17", "ORPHA:263029": "OBSOLETE: Uniparental disomy of chromosome 7 / OBSOLETE: UPD(7)", "ORPHA:263024": "OBSOLETE: Uniparental disomy of chromosome 6 / OBSOLETE: UPD(6)", "ORPHA:263019": "OBSOLETE: Uniparental disomy of chromosome 1 / OBSOLETE: UPD(1)", "ORPHA:263004": "Partial duplication of the long arm of chromosome 22 syndrome / Partial duplication of chromosome 22q / Partial trisomy of chromosome 22q / Partial trisomy of the long arm of chromosome 22", "ORPHA:262923": "Partial duplication of the long arm of chromosome 11 syndrome / Partial duplication of chromosome 11q / Partial trisomy of chromosome 11q / Partial trisomy of the long arm of chromosome 11", "ORPHA:262914": "Partial duplication of the long arm of chromosome 10 syndrome / Partial duplication of chromosome 10q / Partial trisomy of chromosome 10q / Partial trisomy of the long arm of chromosome 10", "ORPHA:262905": "Partial duplication of the long arm of chromosome 9 syndrome / Partial duplication of chromosome 9q / Partial trisomy of chromosome 9q / Partial trisomy of the long arm of chromosome 9", "ORPHA:3128": "OBSOLETE: Sakati-Nyhan syndrome / OBSOLETE: ACPS III / OBSOLETE: ACPS with leg hypoplasia / OBSOLETE: Acrocephalopolysyndactyly type 3 / OBSOLETE: Sakati syndrome / OBSOLETE: Sakati-Nyhan-Tisdale syndrome", "ORPHA:262896": "Partial duplication of the long arm of chromosome 8 syndrome / Partial duplication of chromosome 8q / Partial trisomy of chromosome 8q / Partial trisomy of the long arm of chromosome 8", "ORPHA:262959": "Partial duplication of the long arm of chromosome 16 syndrome / Partial duplication of chromosome 16q / Partial trisomy of chromosome 16q / Partial trisomy of the long arm of chromosome 16", "ORPHA:262950": "Partial duplication of the long arm of chromosome 15 syndrome / Partial duplication of chromosome 15q / Partial trisomy of chromosome 15q / Partial trisomy of the long arm of chromosome 15", "ORPHA:3133": "OBSOLETE: Say-Field-Coldwell syndrome / OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome", "ORPHA:262941": "Partial duplication of the long arm of chromosome 14 syndrome / Partial duplication of chromosome 14q / Partial trisomy of chromosome 14q / Partial trisomy of the long arm of chromosome 14", "ORPHA:262932": "Partial duplication of the long arm of chromosome 13 syndrome / Partial duplication of chromosome 13q / Partial trisomy of chromosome 13q / Partial trisomy of the long arm of chromosome 13", "ORPHA:262842": "Partial duplication of the long arm of chromosome 2 syndrome / Partial duplication of chromosome 2q / Partial trisomy of chromosome 2q / Partial trisomy of the long arm of chromosome 2", "ORPHA:262851": "Partial duplication of the long arm of chromosome 3 syndrome / Partial duplication of chromosome 3q / Partial trisomy of chromosome 3q", "ORPHA:3118": "Rudiger syndrome", "ORPHA:262833": "Partial duplication of the long arm of chromosome 1 syndrome / Partial duplication of chromosome 1q / Partial trisomy of chromosome 1q / Partial trisomy of the long arm of chromosome 1", "ORPHA:262878": "Partial duplication of the long arm of chromosome 6 syndrome / Partial duplication of chromosome 6q / Partial trisomy of chromosome 6q / Partial trisomy of the long arm of chromosome 6", "ORPHA:262887": "Partial duplication of the long arm of chromosome 7 syndrome / Partial duplication of chromosome 7q / Partial trisomy of chromosome 7q / Partial trisomy of the long arm of chromosome 7", "ORPHA:262860": "Partial duplication of the long arm of chromosome 4 syndrome / Partial duplication of chromosome 4q / Partial trisomy of chromosome 4q / Partial trisomy of the long arm of chromosome 4", "ORPHA:3123": "Brittle hair syndrome, Sabinas type / Brittle hair-mental deficiency syndrome / Trichothiodystrophy type B", "ORPHA:262869": "Partial duplication of the long arm of chromosome 5 syndrome / Partial duplication of chromosome 5q / Partial trisomy of chromosome 5q / Partial trisomy of the long arm of chromosome 5", "ORPHA:3122": "OBSOLETE: Sinus node disease-myopia syndrome", "ORPHA:3112": "Patella aplasia-coxa vara-tarsal synostosis syndrome", "ORPHA:262776": "Partial duplication of the short arm of chromosome 10 syndrome / Partial duplication of chromosome 10p / Partial trisomy of chromosome 10p / Partial trisomy of the short arm of chromosome 10", "ORPHA:262749": "Partial duplication of the short arm of chromosome 7 syndrome / Partial duplication of chromosome 7p / Partial trisomy of chromosome 7p / Partial trisomy of the short arm of chromosome 7", "ORPHA:3110": "Rombo syndrome", "ORPHA:262758": "Partial duplication of the short arm of chromosome 8 syndrome / Partial duplication of chromosome 8p / Partial trisomy of chromosome 8p / Partial trisomy of the short arm of chromosome 8", "ORPHA:262803": "Partial duplication of the short arm of chromosome 17 syndrome / Partial duplication of chromosome 17p / Partial trisomy of chromosome 17p / Partial trisomy of the short arm of chromosome 17", "ORPHA:431": "Ichthyosis-male hypogonadism syndrome", "ORPHA:262812": "Partial duplication/triplication of the short arm of chromosome 18 syndrome / Partial duplication/triplication of chromosome 18p / Partial trisomy/tetrasomy of chromosome 18p / Partial trisomy/tetrasomy of the short arm of chromosome 18", "ORPHA:262785": "Partial duplication of the short arm of chromosome 11 syndrome / Partial duplication of chromosome 11p / Partial trisomy of chromosome 11p / Partial trisomy of the short arm of chromosome 11", "ORPHA:262794": "Partial duplication of the short arm of chromosome 16 syndrome / Partial duplication of chromosome 16p / Partial trisomy of chromosome 16p / Partial trisomy of the short arm of chromosome 16", "ORPHA:262687": "Partial duplication of chromosome 19 syndrome / Partial trisomy of chromosome 19", "ORPHA:3102": "Richieri Costa-Pereira syndrome / Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome / Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome", "ORPHA:262682": "Partial duplication/triplication of chromosome 18 syndrome / Partial trisomy/tetrasomy of chromosome 18", "ORPHA:262698": "Partial duplication of the short arm of chromosome 2 syndrome / Partial duplication of chromosome 2p / Partial trisomy of chromosome 2p", "ORPHA:3105": "Robinow-like syndrome / Saal-Greenstein syndrome", "ORPHA:262692": "Partial duplication of chromosome 20 syndrome / Partial trisomy of chromosome 20", "ORPHA:3106": "Robinow-Sorauf syndrome", "ORPHA:262716": "Partial duplication of the short arm of chromosome 4 syndrome / Partial duplication of chromosome 4p / Partial trisomy of chromosome 4p / Partial trisomy of the short arm of chromosome 4", "ORPHA:262707": "Partial duplication of the short arm of chromosome 3 syndrome / Partial duplication of chromosome 3p / Partial trisomy of chromosome 3p / Partial trisomy of the short arm of chromosome 3", "ORPHA:262740": "Partial duplication of the short arm of chromosome 6 syndrome / Partial duplication of chromosome 6p / Partial trisomy of chromosome 6p / Partial trisomy of the short arm of chromosome 6", "ORPHA:262725": "Partial duplication/triplication of the short arm of chromosome 5 syndrome / Partial duplication/triplication of chromosome 5p / Partial trisomy/tetrasomy of chromosome 5p / Partial trisomy/tetrasomy of the short arm of chromosome 5", "ORPHA:262643": "Partial duplication/triplication of chromosome 9 syndrome / Partial trisomy/tetrasomy of chromosome 9", "ORPHA:262638": "Partial duplication of chromosome 8 syndrome / Partial trisomy of chromosome 8", "ORPHA:3086": "Autosomal dominant vitreoretinochoroidopathy / ADVIRC", "ORPHA:3087": "Retinohepatoendocrinologic syndrome", "ORPHA:262653": "Partial duplication of chromosome 11 syndrome / Partial trisomy of chromosome 11", "ORPHA:3088": "Revesz syndrome / Dyskeratosis congenita with bilateral exudative retinopathy / Retinopathy-anemia-central nervous system anomalies syndrome / Revesz-DeBuse syndrome", "ORPHA:262648": "Partial duplication of chromosome 10 syndrome / Partial trisomy of chromosome 10", "ORPHA:3090": "Congenital pulmonary venous return anomaly / Congenital pulmonary venous connection anomaly", "ORPHA:262658": "Partial duplication/triplication of the short arm of chromosome 12 syndrome / Partial duplication/triplication of chromosome 12p / Partial trisomy/tetrasomy of chromosome 12p / Partial trisomy/tetrasomy of the short arm of chromosome 12", "ORPHA:262677": "Partial duplication of chromosome 17 syndrome / Partial trisomy of chromosome 17", "ORPHA:262672": "Partial duplication of chromosome 16 syndrome / Partial trisomy of chromosome 16", "ORPHA:262182": "Partial deletion of the long arm of chromosome 22 syndrome / Partial deletion of chromosome 22q / Partial monosomy of chromosome 22q / Partial monosomy of the long arm of chromosome 22", "ORPHA:262191": "Partial duplication of chromosome 1 syndrome / Partial trisomy of chromosome 1", "ORPHA:262196": "Partial duplication of chromosome 2 syndrome / Partial trisomy of chromosome 2", "ORPHA:262201": "Partial duplication of chromosome 3 syndrome / Partial trisomy of chromosome 3", "ORPHA:262206": "Partial duplication of chromosome 4 syndrome / Partial trisomy of chromosome 4", "ORPHA:262211": "Partial duplication/triplication of chromosome 5 syndrome / Partial trisomy/tetrasomy of chromosome 5", "ORPHA:262628": "Partial duplication of chromosome 6 syndrome / Partial trisomy of chromosome 6", "ORPHA:262633": "Partial duplication of chromosome 7 syndrome / Partial trisomy of chromosome 7", "ORPHA:262110": "Partial deletion of the long arm of chromosome 14 syndrome / Partial deletion of chromosome 14q / Partial monosomy of chromosome 14q / Partial monosomy of the long arm of chromosome 14", "ORPHA:3064": "OBSOLETE: X-linked intellectual disability, Wittner type", "ORPHA:262119": "Partial deletion of the long arm of chromosome 15 syndrome / Partial deletion of chromosome 15q / Partial monosomy of chromosome 15q / Partial monosomy of the long arm of chromosome 15", "ORPHA:262128": "Partial deletion of the long arm of chromosome 16 syndrome / Partial deletion of chromosome 16q / Partial monosomy of chromosome 16q / Partial monosomy of the long arm of chromosome 16", "ORPHA:3065": "X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome", "ORPHA:262137": "Partial deletion of the long arm of chromosome 17 syndrome / Partial deletion of chromosome 17q / Partial monosomy of chromosome 17q / Partial monosomy of the long arm of chromosome 17", "ORPHA:262146": "Partial deletion of the long arm of chromosome 18 syndrome / Partial deletion of chromosome 18q / Partial monosomy of chromosome 18q / Partial monosomy of the long arm of chromosome 18", "ORPHA:262155": "Partial deletion of the long arm of chromosome 19 syndrome / Partial deletion of chromosome 19q / Partial monosomy of chromosome 19q / Partial monosomy of the long arm of chromosome 19", "ORPHA:3067": "OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome", "ORPHA:262164": "Partial deletion of the long arm of chromosome 20 syndrome / Partial deletion of chromosome 20q / Partial monosomy of chromosome 20q / Partial monosomy of the long arm of chromosome 20", "ORPHA:262173": "Partial deletion of the long arm of chromosome 21 syndrome / Partial deletion of chromosome 21q / Partial monosomy of chromosome 21q / Partial monosomy of the long arm of chromosome 21", "ORPHA:268843": "Malformation of the neurenteric canal, spinal cord and column", "ORPHA:268861": "Primary tethered cord syndrome / Primary tethered spinal cord syndrome", "ORPHA:268838": "OBSOLETE: Leptomyelolipoma", "ORPHA:2881": "Cutaneous photosensitivity-lethal colitis syndrome", "ORPHA:268832": "OBSOLETE: Lipoma associated with neurospinal dysraphism", "ORPHA:268835": "Lipomyelomeningocele", "ORPHA:268826": "Parietal encephalocele", "ORPHA:268829": "Basal encephalocele", "ORPHA:2895": "Pinsky-Di George-Harley syndrome / Microphthalmia-intellectual disability syndrome", "ORPHA:2894": "OBSOLETE: Pilotto syndrome", "ORPHA:268920": "Isolated megalencephaly / Isolated macrencephaly", "ORPHA:2892": "Pilodental dysplasia-refractive errors syndrome / Euhidrotic ectodermal dysplasia / Kopysc-Barczyk-Krol syndrome", "ORPHA:268871": "OBSOLETE: Primary syringomyelia/hydromyelia", "ORPHA:268874": "OBSOLETE: Congenital hydromyelia", "ORPHA:268865": "Neurenteric cyst", "ORPHA:2888": "Pierre Robin syndrome-faciodigital anomaly syndrome / Chitayat-Meunier-Hodgkinson syndrome / Pierre Robin sequence-faciodigital anomaly syndrome", "ORPHA:268868": "Isolated amyelia", "ORPHA:268770": "OBSOLETE: Upper thoracic spina bifida cystica", "ORPHA:268766": "OBSOLETE: Cervicothoracic spina bifida cystica", "ORPHA:268762": "OBSOLETE: Cervical spina bifida cystica", "ORPHA:2864": "OBSOLETE: Short stature-prognathism-short femoral necks syndrome", "ORPHA:268758": "OBSOLETE: Lumbosacral spina bifida cystica", "ORPHA:268752": "OBSOLETE: Thoracolumbosacral spina bifida cystica", "ORPHA:2861": "OBSOLETE: Short stature-microcephaly-heart defect syndrome / OBSOLETE: D'Ercole syndrome", "ORPHA:268748": "OBSOLETE: Total spina bifida cystica", "ORPHA:268744": "Spinal dysraphism with a posterior meningocele / Spina bifida cystica", "ORPHA:268740": "OBSOLETE: Upper thoracic spina bifida aperta", "ORPHA:2860": "OBSOLETE: Preeyasombat-Varavithya syndrome / OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome", "ORPHA:268823": "Occipital encephalocele", "ORPHA:268820": "Cranial meningocele", "ORPHA:268817": "Cephalocele", "ORPHA:2874": "Phakomatosis pigmentokeratotica", "ORPHA:268813": "Myelocystocele", "ORPHA:2846": "Congenital pericardium anomaly", "ORPHA:268357": "Neural tube closure defect", "ORPHA:268322": "Hereditary thrombocytopenia with normal platelets", "ORPHA:2837": "Pellagra-like skin rash-neurological manifestations syndrome", "ORPHA:268337": "Autosomal recessive intermediate Charcot-Marie-Tooth disease / RI-CMT", "ORPHA:268384": "OBSOLETE: Thoracolumbosacral spina bifida aperta", "ORPHA:2855": "Perrault syndrome / XX gonadal dysgenesis-deafness syndrome / XX gonadal dysgenesis-hearing loss syndrome", "ORPHA:2854": "Fuhrmann syndrome / Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome / Fuhrmann-Rieger-de Sousa syndrome", "ORPHA:268388": "OBSOLETE: Lumbosacral spina bifida aperta", "ORPHA:268392": "OBSOLETE: Cervical spina bifida aperta", "ORPHA:268397": "OBSOLETE: Cervicothoracic spina bifida aperta", "ORPHA:268363": "Open iniencephaly", "ORPHA:268366": "Closed iniencephaly", "ORPHA:2853": "Serpentine fibula-polycystic kidneys syndrome / Exner syndrome", "ORPHA:268369": "Open spinal dysraphism / Open spina bifida / Spina bifida aperta", "ORPHA:268377": "OBSOLETE: Total spina bifida aperta", "ORPHA:268114": "RAS-associated autoimmune leukoproliferative disease / RALD", "ORPHA:2825": "PARC syndrome / Poikiloderma-alopecia-retrognathism-cleft palate syndrome", "ORPHA:268139": "Intraocular medulloepithelioma / Orbital medulloepithelioma", "ORPHA:268129": "Spheroid body myopathy", "ORPHA:2829": "Partington-Anderson syndrome", "ORPHA:268261": "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion / 21q22.13q22.2 microdeletion syndrome / Del(21)(q22.13q22.2) / Monosomy 21q22.13q22.2", "ORPHA:268316": "Complication in hemodialysis", "ORPHA:268162": "Intermediate maple syrup urine disease / Intermediate BCKD deficiency / Intermediate MSUD / Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency", "ORPHA:2832": "Short tarsus-absence of lower eyelashes syndrome / Lopes-Gorlin syndrome", "ORPHA:268145": "Classic maple syrup urine disease / Classic BCKD deficiency / Classic MSUD / Classic branched-chain alpha-ketoacid dehydrogenase deficiency / Classic branched-chain ketoaciduria", "ORPHA:268184": "Thiamine-responsive maple syrup urine disease / Thiamine-responsive BCKD deficiency / Thiamine-responsive MSUD / Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency", "ORPHA:268173": "Intermittent maple syrup urine disease / Intermittent BCKD deficiency / Intermittent MSUD / Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency", "ORPHA:264973": "Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis / Secondary ILD in childhood and adulthood associated with a systemic vasculitis", "ORPHA:264968": "Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease / Secondary ILD in childhood and adulthood associated with a metabolic disease", "ORPHA:2946": "Brachydactyly-long thumb syndrome / Brachydactyly, long thumb type", "ORPHA:264955": "OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood / OBSOLETE: Histiocytosis X in childhood and adulthood / OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood", "ORPHA:264949": "Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease / Secondary ILD in childhood and adulthood associated with a systemic disease", "ORPHA:2950": "Triphalangeal thumb-polysyndactyly syndrome / TPT-PS syndrome", "ORPHA:2951": "Absent thumb-short stature-immunodeficiency syndrome", "ORPHA:264992": "Genetic interstitial lung disease / Genetic ILD", "ORPHA:2947": "Triphalangeal thumbs-brachyectrodactyly syndrome / Carnevale-Hernández-del Castillo-Torres syndrome", "ORPHA:264984": "Exposure-related interstitial lung disease", "ORPHA:264978": "Drug or radiation exposure-related interstitial lung disease", "ORPHA:2952": "Adducted thumbs-arthrogryposis syndrome, Christian type", "ORPHA:2957": "Guttmacher syndrome / Preaxial deficiency-postaxial polydactyly-hypospadias syndrome", "ORPHA:264694": "Interstitial lung disease specific to infancy / ILD specific to infancy", "ORPHA:264699": "Secondary interstitial lung disease specific to childhood associated with a systemic disease / Secondary ILD specific to childhood associated with a systemic disease", "ORPHA:264704": "Secondary interstitial lung disease specific to childhood associated with a connective tissue disease / Secondary ILD specific to childhood associated with a connective tissue disease", "ORPHA:264709": "Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis / Secondary ILD specific to childhood associated with a systemic vasculitis", "ORPHA:2925": "OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome", "ORPHA:264714": "Secondary interstitial lung disease specific to childhood associated with a granulomatous disease / Secondary ILD specific to childhood associated with a granulomatous disease", "ORPHA:264719": "Secondary interstitial lung disease specific to childhood associated with a metabolic disease / Secondary ILD specific to childhood associated with a metabolic disease", "ORPHA:264724": "OBSOLETE: Langerhans cell histiocytosis specific to childhood / OBSOLETE: Histiocytosis X specific to childhood / OBSOLETE: Langerhans cell granulomatosis specific to childhood", "ORPHA:264735": "Interstitial lung disease specific to adulthood / ILD specific to adulthood", "ORPHA:264740": "Primary interstitial lung disease specific to adulthood / Primary ILD specific to adulthood", "ORPHA:264745": "Secondary interstitial lung disease specific to adulthood associated with a systemic disease / Secondary ILD specific to adulthood associated with a systemic disease", "ORPHA:2934": "Polysyndactyly-cardiac malformation syndrome / Bonneau syndrome", "ORPHA:264750": "OBSOLETE: Langerhans cell histiocytosis specific to adulthood / OBSOLETE: Histiocytosis X specific to adulthood / OBSOLETE: Langerhans cell granulomatosis specific to adulthood", "ORPHA:264757": "Interstitial lung disease in childhood and adulthood / ILD in childhood and adulthood", "ORPHA:264762": "Primary interstitial lung disease in childhood and adulthood / Primary ILD in childhood and adulthood", "ORPHA:264930": "Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder / Primary ILD in childhood and adulthood due to alveolar structure disorder", "ORPHA:2941": "Porencephaly-cerebellar hypoplasia-internal malformations syndrome / Bonnemann-Meinecke syndrome", "ORPHA:264935": "Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder / Primary ILD in childhood and adulthood due to alveolar vascular disorder", "ORPHA:264944": "Secondary interstitial lung disease in childhood and adulthood / Secondary ILD in childhood and adulthood", "ORPHA:2899": "Brachyolmia-amelogenesis imperfecta syndrome / Platyspondyly-amelogenesis imperfecta syndrome / Verloes-Bourguignon syndrome", "ORPHA:264431": "Partial duplication of the short arm of chromosome 1 syndrome / Partial duplication of chromosome 1p / Partial trisomy of chromosome 1p", "ORPHA:264656": "Interstitial lung disease specific to childhood / ILD specific to childhood", "ORPHA:264670": "Primary interstitial lung disease specific to childhood due to alveolar structure disorder / Primary ILD specific to childhood due to alveolar structure disorder", "ORPHA:264665": "Primary interstitial lung disease specific to childhood / Primary ILD specific to childhood", "ORPHA:264683": "Primary interstitial lung disease specific to childhood due to alveolar vascular disorder / Primary ILD specific to childhood due to alveolar vascular disorder", "ORPHA:264691": "Isolated pulmonary capillaritis", "ORPHA:264688": "Congenital chylothorax", "ORPHA:275803": "Pulmonary arterial hypertension associated with congenital heart disease / PAH associated with congenital heart disease", "ORPHA:275808": "Pulmonary arterial hypertension associated with HIV infection / PAH associated with HIV infaction", "ORPHA:275813": "Pulmonary arterial hypertension associated with portal hypertension / PAH associated with portal hypertension / POPH / Portopulmonary hypertension", "ORPHA:1717": "Distal duplication 19q syndrome / Distal trisomy 19q / Telomeric duplication 19q / Trisomy 19qter", "ORPHA:275823": "Pulmonary arterial hypertension associated with schistosomiasis / PAH associated with schistosomiasis", "ORPHA:3368": "Trigonocephaly-bifid nose-acral anomalies syndrome", "ORPHA:275777": "Heritable pulmonary arterial hypertension / FPAH / Familial pulmonary arterial hypertension / HPAH / Hereditary pulmonary arterial hypertension", "ORPHA:275786": "Drug- or toxin-induced pulmonary arterial hypertension / Drug- or toxin-induced PAH", "ORPHA:275791": "Pulmonary arterial hypertension associated with another disease / PAH associated with another disease / Secondary PAH", "ORPHA:275798": "Pulmonary arterial hypertension associated with connective tissue disease / PAH associated with connective tissue disease", "ORPHA:3363": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome / Long eyelashes-intellectual disability syndrome / Oliver-McFarlane syndrome", "ORPHA:275749": "Beta-thalassemia and related diseases", "ORPHA:275752": "Sickle cell disease and related diseases", "ORPHA:3362": "OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome / OBSOLETE: Goldstein-Hutt syndrome", "ORPHA:3365": "Trigonocephaly-broad thumbs syndrome / Hunter-Rudd-Hoffmann syndrome", "ORPHA:275729": "Rare hemorrhagic disorder due to a constitutional thrombocytopenia / Rare bleeding disorder due to a constitutional thrombocytopenia / Rare bleeding disorder due to a quantitative platelet defect / Rare coagulopathy due to a constitutional thrombocytopenia / Rare coagulopathy due to a quantitative platelet defect / Rare hemorrhagic disorder due to a quantitative platelet defect", "ORPHA:275736": "Rare hemorrhagic disorder due to a qualitative platelet defect / Rare bleeding disorder due to a constitutional thrombopathy / Rare bleeding disorder due to a qualitative platelet defect / Rare coagulopathy due to a constitutional thrombopathy / Rare coagulopathy due to a qualitative platelet defect / Rare hemorrhagic disorder due to a constitutional thrombopathy", "ORPHA:3357": "OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly / OBSOLETE: Trueb-Burg-Bottani syndrome", "ORPHA:275742": "Genetic infertility", "ORPHA:275745": "Alpha-thalassemia and related disorders", "ORPHA:276148": "Benign epithelial tumor of salivary glands", "ORPHA:276145": "Malignant epithelial tumor of salivary glands", "ORPHA:276161": "Multiple endocrine neoplasia / MEN", "ORPHA:3391": "Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome / Ectodermal dysplasia-adrenal cyst syndrome / Tuffli-Laxova syndrome", "ORPHA:276061": "Genetic frontotemporal degeneration with dementia", "ORPHA:3403": "Uhl anomaly", "ORPHA:276058": "Genetic neurodegenerative disease with dementia", "ORPHA:276142": "Rare tumor of salivary glands", "ORPHA:276066": "Bile acid CoA ligase deficiency and defective amidation", "ORPHA:3383": "Humerus trochlea aplasia", "ORPHA:3384": "Common arterial trunk / CAT / Common aorticopulmonary trunk / Truncus arteriosus", "ORPHA:275944": "Hemolytic disease of the newborn with Kell alloimmunization / Anti-K HDN / Maternal anti-Kell alloimmunization", "ORPHA:3387": "Isolated anterior cervical hypertrichosis / Hairy throat syndrome / Tsukahara-Kajii syndrome", "ORPHA:3388": "Neural tube defect", "ORPHA:275938": "Hemolytic disease due to fetomaternal alloimmunization / HDFN / Hemolytic disease of the fetus and newborn", "ORPHA:275837": "Pulmonary hypertension owing to lung disease and/or hypoxia / PH due to lung disease and/or hypoxia / PH owing to lung disease and/or hypoxia / Pulmonary hypertension due to lung disease and/or hypoxia", "ORPHA:1723": "Mosaic trisomy 2 syndrome / Mosaic trisomy chromosome 2 / Trisomy 2 mosaicism", "ORPHA:275828": "Pulmonary arterial hypertension associated with chronic hemolytic anemia / PAH associated with chronic hemolytic anemia", "ORPHA:1724": "Mosaic trisomy 20 syndrome / Mosaic trisomy chromosome 20 / Trisomy 20 mosaicism", "ORPHA:275853": "Syndrome with pulmonary hypertension as a major feature", "ORPHA:1747": "Mosaic trisomy 7 syndrome / Mosaic trisomy chromosome 7 / Trisomy 7 mosaicism", "ORPHA:275844": "Pulmonary hypertension with unclear multifactorial mechanism / PH with unclear multifactorial mechanism", "ORPHA:271841": "Genetic cardiac tumor", "ORPHA:3333": "Connective tissue dysplasia, Spellacy type / Spellacy-Gibbs-Watts syndrome", "ORPHA:271832": "Genetic soft tissue tumor / Genetic mesenchymal tumor", "ORPHA:3332": "Hypoplastic tibiae-postaxial polydactyly syndrome / Hypoplastic tibia-polydactyly syndrome / Werner mesomelic syndrome", "ORPHA:271835": "Genetic digestive tract tumor", "ORPHA:3328": "Absent tibia-polydactyly-arachnoid cyst syndrome / Holmes-Collins syndrome", "ORPHA:3326": "Thymic-renal-anal-lung dysplasia", "ORPHA:3323": "Braddock-Carey syndrome / Thrombocytopenia-Robin sequence syndrome", "ORPHA:3317": "Thoracolaryngopelvic dysplasia / Barnes syndrome", "ORPHA:3313": "OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome / OBSOLETE: Thiele syndrome", "ORPHA:3355": "Trichoodontoonychial dysplasia / Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region", "ORPHA:275534": "OBSOLETE: Myostatin-related muscle hypertrophy", "ORPHA:3354": "OBSOLETE: Tricho-oculo-dermo-vertebral syndrome / OBSOLETE: Alves-dos Santos-Castelo syndrome / OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome", "ORPHA:275523": "Dianzani autoimmune lymphoproliferative disease / DALD", "ORPHA:3351": "Trichodental syndrome / Kersey syndrome", "ORPHA:275517": "Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency / ALPS-recurrent viral infections due to CASP8 deficiency / Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency / CEDS / Caspase 8 deficiency syndrome", "ORPHA:3349": "Treft-Sanborn-Carey syndrome / Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome / Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome", "ORPHA:3341": "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome", "ORPHA:271870": "Rare genetic systemic or rheumatologic disease", "ORPHA:595109": "ATS / Atypical Timothy syndrome / Atypical LQT8", "ORPHA:271861": "Hereditary ATTR amyloidosis / ATTRv amyloidosis / Familial TTR-related amyloidosis / Familial transthyretin-related amyloidosis / Hereditary TTR amyloid polyneuropathy / Hereditary TTR amyloidosis / Hereditary transthyretin amyloid polyneuropathy / hATTR", "ORPHA:3340": "OBSOLETE: Torres-Aybar syndrome", "ORPHA:271853": "Genetic cardiac anomaly", "ORPHA:3336": "TomÚ-Brunet-Fardeau syndrome", "ORPHA:271847": "Genetic neuroendocrine tumor", "ORPHA:3338": "Toriello-Carey syndrome / Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome", "ORPHA:271844": "Genetic urogenital tumor", "ORPHA:269567": "Genetic syndrome with a cerebellar malformation as a major feature", "ORPHA:269570": "Genetic syndrome with a Dandy-Walker malformation as a major feature", "ORPHA:269573": "Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature", "ORPHA:269531": "Other syndrome with a central nervous system malformation as a major feature", "ORPHA:269546": "Syndrome with a Dandy-Walker malformation as a major feature", "ORPHA:3460": "Winchester syndrome", "ORPHA:269550": "Genetic non-syndromic central nervous system malformation", "ORPHA:269553": "Genetic cerebral malformation / Genetic brain malformation", "ORPHA:269557": "Genetic posterior fossa malformation", "ORPHA:3466": "WT limb-blood syndrome", "ORPHA:269560": "Genetic cerebellar malformation", "ORPHA:269564": "Genetic syndrome with a central nervous system malformation as a major feature / Genetic syndrome with a CNS malformation as major feature", "ORPHA:2749": "Oromandibular-limb hypogenesis syndrome / Oroacral syndrome", "ORPHA:3013": "Radiculomegaly of canine teeth- congenital cataract / Marashi-Gorlin syndrome", "ORPHA:3200": "Arthrogryposis-ectodermal dysplasia syndrome / Stoll-Alembik-Finck syndrome", "ORPHA:3243": "Sweet syndrome / Acute febrile neutrophilic dermatosis", "ORPHA:2352": "Kozlowski-Brown-Hardwick syndrome", "ORPHA:2076": "X-linked intellectual disability-epilepsy syndrome", "ORPHA:268980": "Isolated focal cortical dysplasia type Ib / FCD type Ib", "ORPHA:268987": "Isolated focal cortical dysplasia type Ic / FCD type Ic", "ORPHA:3423": "Vasquez-Hurst-Sotos syndrome / Hypogonadism-gynecomastia-X-linked intellectual disability syndrome", "ORPHA:268973": "Isolated focal cortical dysplasia type Ia / FCD type Ia", "ORPHA:269008": "Isolated focal cortical dysplasia type IIb / FCD type IIb", "ORPHA:269190": "Encephaloclastic disorder", "ORPHA:268994": "Isolated focal cortical dysplasia type II / Cortical dysplasia, Taylor type / FCD type II / Isolated focal cortical dysplasia type 2", "ORPHA:269001": "Isolated focal cortical dysplasia type IIa / FCD type IIa", "ORPHA:2460": "Van den Ende-Gupta syndrome / Marden-Walker-like syndrome / VDEGS", "ORPHA:1244": "NON RARE IN EUROPE: Bicuspid aortic valve", "ORPHA:268926": "Midline cerebral malformation / Midline brain malformation", "ORPHA:268936": "Isolated arhinencephaly", "ORPHA:3421": "Cerebroretinal vasculopathy / CRV / Grand-Kaine-Fulling syndrome", "ORPHA:3419": "OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome", "ORPHA:268961": "Isolated focal cortical dysplasia type I / FCD type I", "ORPHA:268947": "Unilateral focal polymicrogyria", "ORPHA:268950": "Cerebral cortical dysplasia / Brain cortical dysplasia", "ORPHA:3450": "Weissenbacher-Zweymuller syndrome / Pierre Robin sequence-fetal chondrodysplasia syndrome / Pierre Robin syndrome-fetal chondrodysplasia syndrome", "ORPHA:269229": "Pontine tegmental cap dysplasia / PTCD", "ORPHA:269224": "Global cerebellar malformation / Diffuse cerebellar malformation", "ORPHA:269221": "Isolated bilateral hemispheric cerebellar hypoplasia", "ORPHA:269218": "Isolated unilateral hemispheric cerebellar hypoplasia", "ORPHA:269528": "Syndrome with microcephaly as a major feature", "ORPHA:269523": "Syndrome with a cerebellar malformation as a major feature", "ORPHA:269510": "Congenital non-communicating hydrocephalus / Congenital obstructive hydrocephalus", "ORPHA:269505": "Congenital communicating hydrocephalus / Congenital non-obstructive hydrocephalus", "ORPHA:269203": "Isolated cerebellar vermis agenesis", "ORPHA:269200": "OBSOLETE: Retrocerebellar cyst", "ORPHA:3438": "Biliary tract malformation-renal failure syndrome / Cholestatic jaundice-renal tubular insufficiency syndrome / Lutz-Richner-Landolt syndrome", "ORPHA:269197": "Glioependymal/ependymal cyst", "ORPHA:269194": "Central nervous system cystic malformation", "ORPHA:269215": "Isolated Dandy-Walker malformation without hydrocephalus", "ORPHA:3446": "Weaver-like syndrome", "ORPHA:269212": "Isolated Dandy-Walker malformation with hydrocephalus", "ORPHA:269209": "Isolated partial cerebellar vermis agenesis", "ORPHA:269206": "Isolated total cerebellar vermis agenesis", "ORPHA:280315": "Autoimmune pancreatitis type 2 / AIP type 2 / Duct-centric pancreatitis", "ORPHA:280302": "Autoimmune pancreatitis type 1 / AIP type 1 / IgG4-related pancreatitis / Lymphoplasmacytic sclerosing pancreatitis", "ORPHA:280325": "Distal deletion 12p syndrome / 12p13.33 microdeletion syndrome / Del(12)(p13.33) / Distal monosomy 12p", "ORPHA:280293": "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation", "ORPHA:280288": "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation / Mitochondrial HSP60 chaperonopathy", "ORPHA:280369": "Rare pediatric vasculitis", "ORPHA:3195": "Sternal malformation-vascular dysplasia syndrome", "ORPHA:280379": "Erythropoietic uroporphyria associated with myeloid malignancy", "ORPHA:280373": "Rare pediatric systemic disease", "ORPHA:3184": "Steatocystoma multiplex-natal teeth syndrome", "ORPHA:280342": "Rare systemic or rheumatological disease of childhood", "ORPHA:280400": "Inherited human prion disease / Familial prion disease / Genetic human prion disease", "ORPHA:280403": "Familial omphalocele syndrome with facial dysmorphism", "ORPHA:3213": "Deafness-opticoacoustic nerve atrophy-dementia syndrome / Jensen syndrome / hearing loss-opticoacoustic nerve atrophy-dementia syndrome", "ORPHA:280406": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness / Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss", "ORPHA:3215": "OBSOLETE: Deafness-white hair-contractures-papillomas syndrome / OBSOLETE: Davenport-Donlan syndrome", "ORPHA:3212": "Autosomal dominant optic atrophy and congenital deafness / Autosomal dominant optic atrophy and congenital hearing loss / Konigsmark-Knox-Hussels syndrome", "ORPHA:280576": "Nestor-Guillermo progeria syndrome / NGPS", "ORPHA:280586": "Chondrodysplasia with joint dislocations, gPAPP type / gPAPP deficiency", "ORPHA:3221": "Generalized resistance to thyroid hormone / Deafness-thyroid hormone resistance syndrome / Hearing loss-thyroid hormone resistance syndrome / Refetoff syndrome", "ORPHA:280553": "Fatal infantile hypertonic myofibrillar myopathy", "ORPHA:280558": "Warsaw breakage syndrome / WABS", "ORPHA:280569": "OBSOLETE: Rapidly progressive glomerulonephritis / OBSOLETE: Crescentic glomerulonephritis / OBSOLETE: RPGN", "ORPHA:280065": "Calciphylaxis cutis", "ORPHA:3153": "NON RARE IN EUROPE: Adolescent idiopathic scoliosis", "ORPHA:279943": "Hereditary neutrophilia", "ORPHA:279934": "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency", "ORPHA:279928": "Paraneoplastic uveitis", "ORPHA:279925": "Infectious panuveitis", "ORPHA:279922": "Infectious anterior uveitis", "ORPHA:280142": "Severe combined immunodeficiency due to LCK deficiency / SCID due to LCK deficiency / SCID due to lymphocyte-specific protein tyrosine kinase deficiency / Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency", "ORPHA:280133": "Complement component 3 deficiency / C3 deficiency", "ORPHA:280110": "NON RARE IN EUROPE: Paget disease of bone / NON RARE IN EUROPE: Osteitis deformans", "ORPHA:280068": "Visceral calciphylaxis", "ORPHA:280210": "Pelizaeus-Merzbacher disease, connatal form / Connatal PMD / Pelizaeus-Merzbacher disease type II / Severe PMD", "ORPHA:280219": "Pelizaeus-Merzbacher disease, classic form / Classic PMD", "ORPHA:280205": "Laryngotracheoesophageal cleft type 0 / LTEC0 / Laryngo-tracheo-esophageal cleft type 0", "ORPHA:280195": "Septopreoptic holoprosencephaly / Septopreoptic HPE", "ORPHA:3172": "Eyebrow duplication-syndactyly syndrome", "ORPHA:280183": "Methylmalonic aciduria due to transcobalamin receptor defect / Methylmalonic acidemia, TCb1R type / Methylmalonic acidemia, TCbIR type", "ORPHA:280282": "Pelizaeus-Merzbacher-like disease due to GJC2 mutation / PMLD1", "ORPHA:280270": "Pelizaeus-Merzbacher-like disease / PMLD", "ORPHA:252": "OBSOLETE: Spondyloepimetaphyseal dysplasia", "ORPHA:280234": "Null syndrome / PLP1 null syndrome / Pelizaeus-Merzbacher disease, null syndrome", "ORPHA:280224": "Pelizaeus-Merzbacher disease, transitional form / Transitional PMD", "ORPHA:280229": "Pelizaeus-Merzbacher disease in female carriers", "ORPHA:3262": "Dobrow syndrome / Syngnathia-multiple anomalies syndrome", "ORPHA:276598": "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency / Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form", "ORPHA:276585": "Diazoxide-resistant hyperinsulinism / Diazoxide-resistant hyperinsulinemic hypoglycemia", "ORPHA:276603": "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency / Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form", "ORPHA:276624": "OBSOLETE: Sporadic pheochromocytoma", "ORPHA:3267": "OBSOLETE: Familial lambdoid synostosis", "ORPHA:276627": "OBSOLETE: Sporadic secreting paraganglioma", "ORPHA:3274": "Granulomatous arthritis of childhood / Autoinflammatory granulomatosis of childhood / Granulomatous inflammatory arthritis, dermatitis, and uveitis / Granulomatous synovitis-uveitis syndrome / PGA / Pediatric granulomatous arthritis", "ORPHA:3275": "Spondylocarpotarsal synostosis / Synspondylism", "ORPHA:3284": "OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome", "ORPHA:3289": "NON RARE IN EUROPE: Taurodontism", "ORPHA:3291": "Teebi-Shaltout syndrome", "ORPHA:3293": "Telecanthus-hypertelorism-strabismus-pes cavus syndrome", "ORPHA:3292": "Tel Hashomer camptodactyly syndrome / Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome", "ORPHA:279888": "Acute endophthalmitis", "ORPHA:279891": "Chronic endophthalmitis", "ORPHA:279894": "Toxic maculopathy due to antimalarial drugs", "ORPHA:279897": "Primary oculocerebral lymphoma / Primary oculocerebral non-Hodgkin lymphoma", "ORPHA:279904": "Primary intraocular lymphoma / PIOL / Primary intraocular non-Hodgkin lymphoma", "ORPHA:279911": "Primary organ-specific lymphoma", "ORPHA:3311": "OBSOLETE: Infantile symmetrical thalamic degeneration", "ORPHA:279919": "Infectious posterior uveitis", "ORPHA:276174": "Idiopathic recurrent stupor", "ORPHA:3229": "OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome", "ORPHA:276234": "Non-syndromic male infertility due to sperm motility disorder / Non-syndromic male infertility due asthenozoospermia", "ORPHA:276223": "Mucopolysaccharidosis type 6, slowly progressing / Arylsulfatase B deficiency, slowly progressing / MPS6, slowly progressing / MPSVI, slowly progressing / Mucopolysaccharidosis type VI, slowly progressing", "ORPHA:3228": "OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome / OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome / OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome", "ORPHA:276212": "Mucopolysaccharidosis type 6, rapidly progressing / Arylsulfatase B deficiency, rapidly progressing / MPS6, rapidly progressing / MPSVI, rapidly progressing / Mucopolysaccharidosis type VI, rapidly progressing", "ORPHA:276252": "OBSOLETE: Xeroderma pigmentosum complementation group B / OBSOLETE: XPB", "ORPHA:276249": "OBSOLETE: Xeroderma pigmentosum complementation group A / OBSOLETE: XPA", "ORPHA:3231": "Deafness-onychodystrophy syndrome / Hearing loss-onychodystrophy syndrome", "ORPHA:276264": "OBSOLETE: Xeroderma pigmentosum complementation group F / OBSOLETE: XPF", "ORPHA:276261": "OBSOLETE: Xeroderma pigmentosum complementation group E / OBSOLETE: XPE", "ORPHA:276258": "OBSOLETE: Xeroderma pigmentosum complementation group D / OBSOLETE: XPD", "ORPHA:276255": "OBSOLETE: Xeroderma pigmentosum complementation group C / OBSOLETE: XPC", "ORPHA:276267": "OBSOLETE: Xeroderma pigmentosum complementation group G / OBSOLETE: XPG", "ORPHA:276271": "NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia / NON RARE IN EUROPE: Analbuminemia / NON RARE IN EUROPE: Bisalbuminemia / NON RARE IN EUROPE: FDH", "ORPHA:276402": "OBSOLETE: Limbic encephalitis with caspr2 antibodies", "ORPHA:276405": "Hyperbiliverdinemia / Green jaundice", "ORPHA:276429": "Hypnic headache", "ORPHA:943": "Malonic aciduria / Deficiency of malonyl-CoA decarboxylase / MLYCD deficiency / Malonic acidemia / Malonyl-CoA decarboxylase deficiency", "ORPHA:1002": "NON RARE IN EUROPE: Cluster headache / NON RARE IN EUROPE: Ciliary neuralgia / NON RARE IN EUROPE: Cluster migraine / NON RARE IN EUROPE: Erythromelalgia of the head / NON RARE IN EUROPE: Erythroprosopalgia of Bing / NON RARE IN EUROPE: Histamine cephalalgia / NON RARE IN EUROPE: Histamine headache / NON RARE IN EUROPE: Histaminic cephalalgia / NON RARE IN EUROPE: Horton headache / NON RARE IN EUROPE: Migrainous neuralgia / NON RARE IN EUROPE: Red migraine", "ORPHA:3324": "Familial thrombomodulin anomalies", "ORPHA:202948": "Syndromic microphthalmia-anophthalmia-coloboma", "ORPHA:202940": "Anomaly of puberty or/and menstrual cycle of genetic origin", "ORPHA:206436": "Infantile Krabbe disease / Krabbe disease, classic form / Krabbe disease, early-onset", "ORPHA:206428": "Hypoxanthine-guanine phosphoribosyltransferase deficiency / HPRT deficiency / HPRT1 deficiency / Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency", "ORPHA:440": "OBSOLETE: Familial hypospadias", "ORPHA:832": "Succinyl-CoA:3-oxoacid CoA transferase deficiency / OXCT1 deficiency / SCOT deficiency / Succinyl-CoA acetoacetate transferase deficiency / Succinyl-CoA:3-ketoacid CoA transferase deficiency", "ORPHA:714": "Hemolytic anemia due to diphosphoglycerate mutase deficiency", "ORPHA:712": "Hemolytic anemia due to glucophosphate isomerase deficiency", "ORPHA:206546": "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers", "ORPHA:206538": "Malignant non-dysgerminomatous germ cell tumor of ovary / Non-dysgerminomatous germ cell cancer of ovary", "ORPHA:206554": "Fukutin-related limb-girdle muscular dystrophy R13 / Autosomal recessive LGMD type 2M / Autosomal recessive limb-girdle muscular dystrophy type 2M / Fukutin-related LGMD R13 / LGMD2M", "ORPHA:1849": "OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome", "ORPHA:1524": "Craniomicromelic syndrome", "ORPHA:206564": "POMGNT1-related limb-girdle muscular dystrophy R15 / Autosomal recessive limb-girdle muscular dystrophy type 2O / LGMD type 2O / LGMD2O / Limb-girdle muscular dystrophy type 2O / POMGNT1-related LGMD R15", "ORPHA:206572": "Overlap myositis / Adult-onset overlap myositis / Non-specific myositis", "ORPHA:3263": "Syngnathia-cleft palate syndrome", "ORPHA:206569": "Immune-mediated necrotizing myopathy / AINM / Autoimmune necrotizing myositis / IMNM / NAM / Necrotizing autoimmune myositis", "ORPHA:206580": "Autosomal recessive lower motor neuron disease with childhood onset / Autosomal recessive distal spinal muscular atrophy type 4 / Distal spinal muscular atrophy type 4 / dSMA4", "ORPHA:206575": "Rippling muscle disease with myasthenia gravis / Acquired rippling muscle disease / Immune-mediated rippling muscle disease", "ORPHA:206443": "Late-infantile/juvenile Krabbe disease / Krabbe disease, late-onset", "ORPHA:3439": "Von Voss-Cherstvoy syndrome / DK phocomelia syndrome / Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome", "ORPHA:206448": "Adult Krabbe disease", "ORPHA:206470": "Cystadenoma of childhood / Cystadenoma of ovary in childhood", "ORPHA:1217": "Spinal atrophy-ophthalmoplegia-pyramidal syndrome / Hamano-Tsukamoto syndrome", "ORPHA:206473": "OBSOLETE: Borderline epithelial tumor of ovary / OBSOLETE: Borderline ovarian epithelial tumor / OBSOLETE: Ovarian tumor of low malignant potential", "ORPHA:206489": "Malignant germ cell tumor of the vagina / Vaginal germ cell cancer / Vaginal germ cell malignant tumor", "ORPHA:206492": "Vulvovaginal rhabdomyosarcoma", "ORPHA:1534": "OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type / OBSOLETE: Imaizumi-Kuroki syndrome", "ORPHA:206701": "Bulbospinal muscular atrophy", "ORPHA:669": "OBSOLETE: Otopalatodigital syndrome", "ORPHA:206662": "Inclusion myopathy", "ORPHA:206659": "OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly", "ORPHA:206713": "OBSOLETE: Distal spinal muscular atrophy", "ORPHA:206710": "Generalized bulbospinal muscular atrophy", "ORPHA:206707": "Bulbospinal muscular atrophy of adult", "ORPHA:206704": "Bulbospinal muscular atrophy of childhood", "ORPHA:206966": "Mitochondrial myopathy", "ORPHA:279": "NON RARE IN EUROPE: Age-related macular degeneration", "ORPHA:206959": "Muscular glycogenosis / Glycogen storage myopathy", "ORPHA:777": "X-linked non-syndromic intellectual disability", "ORPHA:206953": "Muscular lipidosis / Lipid storage myopathy", "ORPHA:206979": "OBSOLETE: Granulomatous myositis", "ORPHA:206976": "Periodic paralysis", "ORPHA:411": "Hyperlipoproteinemia type 1 / HLP type 1", "ORPHA:206973": "Congenital myotonia", "ORPHA:206970": "Myotonic syndrome", "ORPHA:206594": "Subacute inflammatory demyelinating polyneuropathy / Subacute inflammatory demyelinating polyradiculoneuropathy", "ORPHA:206599": "Isolated asymptomatic elevation of creatine phosphokinase / Idiopathic asymptomatic hyperCKemia / Isolated asymptomatic hyperCKemia", "ORPHA:206586": "Neurolymphomatosis", "ORPHA:206613": "Infectious disease with peripheral neuropathy", "ORPHA:453499": "Okamoto syndrome / Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome / Au-Kline syndrome / HNRNPK-related neurodevelopmental disorder", "ORPHA:206616": "OBSOLETE: Acquired metabolic neuropathy", "ORPHA:206606": "OBSOLETE: Other muscle weakness and/or chronic muscle pain", "ORPHA:1844": "OBSOLETE: Bone dysplasia, Azouz type", "ORPHA:206610": "OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain", "ORPHA:206638": "Acquired skeletal muscle disease", "ORPHA:206644": "Progressive muscular dystrophy", "ORPHA:206619": "OBSOLETE: Toxic or/and iatrogenic neuropathy", "ORPHA:206634": "Genetic skeletal muscle disease", "ORPHA:206653": "Autosomal recessive distal myopathy", "ORPHA:206656": "Non-dystrophic myopathy", "ORPHA:206647": "Myotonic dystrophy", "ORPHA:206650": "Autosomal dominant distal myopathy", "ORPHA:207085": "Qualitative or quantitative defects of dystrophin / Dystrophinopathy", "ORPHA:207090": "Qualitative or quantitative defects of collagen 6", "ORPHA:207094": "Laminin subunit alpha 2-related muscular dystrophy / LAMA2-related muscular dystrophy / Qualitative or quantitative defects of merosin", "ORPHA:207098": "Qualitative or quantitative defects of integrin alpha-7 / Integrinopathy", "ORPHA:378": "NON RARE IN EUROPE: Sjögren syndrome / NON RARE IN EUROPE: Sicca syndrome / NON RARE IN EUROPE: Sjögren-Gougerot syndrome", "ORPHA:207067": "Qualitative or quantitative defects of gamma-sarcoglycan", "ORPHA:1130": "Arachnodactyly-intellectual disability-dysmorphism syndrome / De Die-Smulders-Vles-Fryns syndrome", "ORPHA:207070": "Qualitative or quantitative defects of delta-sarcoglycan", "ORPHA:207073": "Qualitative or quantitative defects of dysferlin / Dysferlinopathy", "ORPHA:2626": "OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome / OBSOLETE: Blethen-Wenick-Hawkins syndrome", "ORPHA:207078": "Qualitative or quantitative defects of caveolin-3 / Caveolinopathy", "ORPHA:207049": "Qualitative or quantitative protein defects in neuromuscular diseases", "ORPHA:936": "Succinic acidemia", "ORPHA:207052": "Qualitative or quantitative defects of sarcoglycan / Sarcoglycanopathy", "ORPHA:207060": "Qualitative or quantitative defects of alpha-sarcoglycan", "ORPHA:207063": "Qualitative or quantitative defects of beta-sarcoglycan", "ORPHA:2244": "Hypopituitarism-microphthalmia syndrome / Kaplowitz-Bodurtha syndrome", "ORPHA:207031": "OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy", "ORPHA:207038": "Acute and subacute inflammatory demyelinating polyneuropathy / Acute and subacute inflammatory demyelinating polyradiculoneuropathy", "ORPHA:207046": "Malignant lymphoma with peripheral neuropathy", "ORPHA:207021": "Rare hereditary systemic disease with peripheral neuropathy", "ORPHA:207018": "Rare hereditary metabolic disease with peripheral neuropathy", "ORPHA:207028": "Cerebellar ataxia with peripheral neuropathy", "ORPHA:2427": "Macrocephaly-short stature-paraplegia syndrome / Volcke-Soekarman syndrome", "ORPHA:207025": "Rare hereditary neurologic disease with peripheral neuropathy", "ORPHA:207009": "OBSOLETE: Acquired rod-body myopathy", "ORPHA:207006": "OBSOLETE: Acquired amyloid myopathy", "ORPHA:1474": "Colobomatous-microphthalmia-heart disease-hearing loss syndrome / Hittner-Hirsch-Kreh syndrome", "ORPHA:207015": "Rare hereditary disease with peripheral neuropathy", "ORPHA:207012": "Spinal muscular atrophy associated with central nervous system anomaly", "ORPHA:206997": "Parasitic myositis", "ORPHA:1789": "OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome / OBSOLETE: Van Biervliet-Hendrickx-van Ertbruggen syndrome", "ORPHA:206994": "Bacterial myositis", "ORPHA:207003": "OBSOLETE: Endocrine myopathy", "ORPHA:207000": "Fungal myositis", "ORPHA:206985": "OBSOLETE: Drug and/or toxic myopathy", "ORPHA:206982": "Muscular tumor", "ORPHA:206991": "Viral myositis", "ORPHA:206988": "Infectious, fungal or parasitic myopathy", "ORPHA:209007": "Systemic inflammatory disease associated with an acquired peripheral neuropathy", "ORPHA:209010": "Peripheral neuropathy associated with monoclonal gammopathy", "ORPHA:208999": "Paraneoplastic sensory ganglionopathy / Paraneoplastic sensory neuronopathy", "ORPHA:3271": "Radio-ulnar synostosis-retinal pigment abnormalities syndrome / Buntinx-Lormans-Martin syndrome", "ORPHA:1530": "OBSOLETE: Craniosynostosis-cataract syndrome", "ORPHA:208989": "Non-paraneoplastic sensory ganglionopathy / Non-paraneoplastic sensory neuronopathy", "ORPHA:208994": "OBSOLETE: Other ganglionopathy related to autoimmune diseases / OBSOLETE: Other neuronopathy related to autoimmune diseases", "ORPHA:208984": "Acquired sensory ganglionopathy / Acquired sensory neuronopathy", "ORPHA:1894": "Ectrodactyly-spina bifida-cardiopathy syndrome / Kasznica-Carlson-Coppedge syndrome", "ORPHA:208974": "Chronic acquired demyelinating polyneuropathy / CADP", "ORPHA:208978": "Chronic polyradiculoneuropathy", "ORPHA:208600": "OBSOLETE: Papillary fibroelastoma of the heart / OBSOLETE: Cardiac papillary fibroelastoma", "ORPHA:208650": "NLRP3-associated autoinflammatory disease / Cryopyrin associated periodic syndrome / Cryopyrinopathy / NLRP3-associated AID / NLRP3-associated autoinflammatory syndrome", "ORPHA:464343": "CAPS / Catastrophic antiphospholipid syndrome / Catastrophic APS", "ORPHA:208593": "Genetic hypoparathyroidism", "ORPHA:208596": "Genetic hyperparathyroidism", "ORPHA:3331": "OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome / OBSOLETE: Chitty-Hall-Webb syndrome", "ORPHA:208524": "Herpetiform pemphigus", "ORPHA:1485": "Arthrogryposis-hyperkeratosis syndrome, lethal form / Johnston-Aarons-Schelley syndrome", "ORPHA:208508": "Autosomal dominant cerebellar ataxia type II / ADCA2 / ADCAII / Autosomal dominant cerebellar ataxia type 2", "ORPHA:208447": "Bilateral generalized polymicrogyria", "ORPHA:208444": "Bilateral frontal polymicrogyria", "ORPHA:1664": "OBSOLETE: Embryonary disorganization syndrome", "ORPHA:1768": "Familial caudal dysgenesis / Rudd-Klimek syndrome", "ORPHA:207122": "Qualitative or quantitative defects of fukutin", "ORPHA:207119": "Qualitative or quantitative defects of FKRP", "ORPHA:207113": "Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan / Secondary alpha-dystroglycanopathy / Secondary dystroglycanopathy", "ORPHA:207110": "Qualitative or quantitative defects of myotubularin", "ORPHA:207107": "Qualitative or quantitative defects of TRIM32", "ORPHA:207104": "Qualitative or quantitative defects of calpain", "ORPHA:207101": "Qualitative or quantitative defects of perlecan", "ORPHA:1541": "Craniosynostosis, Boston type / Craniosynostosis, Warman type / Warman-Mulliken-Hayward syndrome", "ORPHA:1415": "Hardikar syndrome / Cholestasis-pigmentary retinopathy-cleft palate syndrome / HDKR / MED12-related Hardikar syndrome", "ORPHA:2653": "OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome / OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome / OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome / OBSOLETE: Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome", "ORPHA:209335": "Autosomal dominant adult-onset proximal spinal muscular atrophy / Autosomal dominant adult-onset proximal SMA / Autosomal dominant late-onset spinal muscular atrophy, Finkel type / Finkel disease / SMAFK", "ORPHA:209341": "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy / DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy / SMALED1", "ORPHA:209185": "Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", "ORPHA:1773": "Sacrococcygeal dysgenesis association", "ORPHA:209188": "Qualitative or quantitative defects of emerin", "ORPHA:3167": "Siegler-Brewer-Carey syndrome", "ORPHA:209193": "Qualitative or quantitative defects of selenoprotein N1", "ORPHA:209196": "Qualitative or quantitative defects of plectin", "ORPHA:209199": "Qualitative or quantitative defects of protein SERCA1", "ORPHA:209203": "Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -", "ORPHA:209224": "Myotilinopathy / Qualitative or quantitative defects of myotilin", "ORPHA:209044": "Qualitative or quantitative defects of alphaB-cristallin", "ORPHA:209041": "Qualitative or quantitative defects of desmin", "ORPHA:209050": "Qualitative or quantitative defects of protein ZASP", "ORPHA:209047": "Qualitative or quantitative defects of filamin C", "ORPHA:209056": "Qualitative or quantitative defects of telethonin", "ORPHA:209053": "Qualitative or quantitative defects of titin", "ORPHA:209182": "Qualitative or quantitative defects of nebulin", "ORPHA:209059": "Qualitative or quantitative defects of alpha-actin", "ORPHA:2649": "Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome / Richieri Costa-Guion Almeida syndrome", "ORPHA:209016": "Hematological disease associated with an acquired peripheral neuropathy", "ORPHA:1258": "OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome / OBSOLETE: Rodini-Richieri Costa syndrome", "ORPHA:209013": "Acquired amyloid peripheral neuropathy", "ORPHA:209024": "Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase / Qualitative or quantitative defects of protein POMGNT1", "ORPHA:2161": "OBSOLETE: Holoacardius amorphus", "ORPHA:209019": "Solid tumor associated with an acquired peripheral neuropathy", "ORPHA:209030": "Qualitative or quantitative defects of protein O-mannosyltransferase 1", "ORPHA:209027": "Qualitative or quantitative defects of protein glycosyltransferase-like", "ORPHA:209038": "Qualitative or quantitative defects of myofibrillar proteins", "ORPHA:209033": "Qualitative or quantitative defects of protein O-mannosyltransferase 2", "ORPHA:489": "NON RARE IN EUROPE: Thyroglossal duct cyst / NON RARE IN EUROPE: Thyroglossal tract cyst", "ORPHA:1167": "OBSOLETE: Facial asymmetry-temporal seizures syndrome", "ORPHA:210115": "Sterile multifocal osteomyelitis with periostitis and pustulosis / Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency / DIRA / Interleukin-1 receptor antagonist deficiency / OMPP", "ORPHA:1884": "Ectopia lentis-chorioretinal dystrophy-myopia syndrome / Noble-Bass-Sherman syndrome", "ORPHA:209989": "Non-papillary transitional cell carcinoma of the bladder / Non-papillary urothelial carcinoma", "ORPHA:1459": "Celiac disease-epilepsy-cerebral calcification syndrome / CEC", "ORPHA:3360": "OBSOLETE: Trichodermal syndrome-intellectual disability syndrome / OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome", "ORPHA:210133": "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome", "ORPHA:2254": "Pontocerebellar hypoplasia type 1 / Norman disease / PCH1", "ORPHA:209959": "Phacoanaphylactic uveitis / Endophthalmitis phacoanaphylactica / Lens-induced endophthalmitis / Lens-induced iridocyclitis / Lens-induced uveitis / Phacoallergic endophthalmitis / Phacoantigenic endophthalmitis / Phako-anaphylactic endophthalmitis", "ORPHA:209964": "Solitary rectal ulcer syndrome", "ORPHA:209973": "Benign nocturnal alternating hemiplegia of childhood", "ORPHA:209978": "Alternating hemiplegia", "ORPHA:2033": "OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome", "ORPHA:2458": "OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome / OBSOLETE: Opitz-Reynolds-Fitzgerald syndrome", "ORPHA:209893": "NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency / NON RARE IN EUROPE: Congenital isolated TBG deficiency", "ORPHA:2666": "Adult familial nephronophthisis-spastic quadriparesia syndrome", "ORPHA:209932": "Cone dystrophy with supernormal rod response / Cone dystrophy with supernormal rod ERG / Cone dystrophy with supernormal rod electroretinogram / Cone dystrophy with supernormal scotopic electroretinogram", "ORPHA:2125": "Sacral hemangiomas-multiple congenital abnormalities syndrome", "ORPHA:209919": "Idiopathic copper-associated cirrhosis / Non-Wilsonian hepatic copper toxicosis of infancy and childhood", "ORPHA:1434": "OBSOLETE: Choroideremia-hypopituitarism syndrome / OBSOLETE: CHM-hypopituitarism syndrome", "ORPHA:209916": "Extraskeletal myxoid chondrosarcoma", "ORPHA:1492": "OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome / OBSOLETE: Ben Ari-Shuper-Mimouni syndrome", "ORPHA:209370": "Severe neonatal-onset encephalopathy with microcephaly / Severe congenital encephalopathy due to MECP2 mutation", "ORPHA:209886": "OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 / OBSOLETE: FJHN type 1 / OBSOLETE: Familial juvenile gouty nephropathy / OBSOLETE: Familial nephropathy with gout / OBSOLETE: UMOD-associated FJHN / OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy", "ORPHA:209867": "Autosomal dominant rhegmatogenous retinal detachment", "ORPHA:210566": "Myoclonic dystonia 15 / DYT15 / Myoclonus-dystonia type 15", "ORPHA:210272": "Mal de débarquement / Disembarkment syndrome / MdD / MdDS / Sickness of disembarkment", "ORPHA:210548": "Macrocephaly-intellectual disability-autism syndrome", "ORPHA:210159": "Adult hepatocellular carcinoma / Adult HCC", "ORPHA:210163": "Congenital lethal myopathy, Compton-North type", "ORPHA:210141": "Inherited congenital spastic tetraplegia / Inherited congenital spastic quadriplegia", "ORPHA:210144": "Lethal polymalformative syndrome, Boissel type", "ORPHA:67": "Amoebiasis due to Entamoeba histolytica", "ORPHA:210592": "OBSOLETE: Giant infantile hemangioma", "ORPHA:210584": "Spindle cell hemangioma / Spindle cell hemangioendothelioma", "ORPHA:210589": "Rare infantile hemangioma / Infantile hemangioma of rare localization", "ORPHA:210576": "Congenital temporomandibular joint ankylosis / Congenital trismus", "ORPHA:210581": "Temporomandibular joint anomaly", "ORPHA:599": "Distal myopathy / Distal muscular dystrophy", "ORPHA:3392": "Tularemia", "ORPHA:211240": "Genetic vascular anomaly", "ORPHA:211237": "Rare vascular tumor", "ORPHA:2737": "Onchocerciasis", "ORPHA:3343": "Toxocariasis", "ORPHA:211062": "Hereditary episodic ataxia", "ORPHA:211053": "Specific language disorder / Dysphasia", "ORPHA:2034": "Filariasis", "ORPHA:211047": "Specific learning disability / Specific learning difficulty / Specific learning disorder", "ORPHA:1685": "Distomatosis / Distomiasis / Fluke infection", "ORPHA:211037": "Autosomal dominant proximal spinal muscular atrophy", "ORPHA:1902": "Ehrlichiosis", "ORPHA:656": "Hereditary steroid-resistant nephrotic syndrome / Familial idiopathic steroid-resistant nephrotic syndrome / Genetic FSGS / Genetic SRNS / Hereditary SRNS / Isolated SRNS / Monogenic SRNS", "ORPHA:211277": "Complex vascular malformation with associated anomalies / Hemangiolymphangioma", "ORPHA:211266": "Rare arteriovenous malformation", "ORPHA:211255": "Rare lymphatic system anomaly", "ORPHA:211252": "Rare venous malformation", "ORPHA:2415": "Rare lymphatic malformation / LM / Lymphangioma", "ORPHA:211247": "Rare capillary malformation", "ORPHA:2122": "Kaposiform hemangioendothelioma", "ORPHA:211243": "Simple vascular malformation", "ORPHA:2968": "Leukocyte adhesion deficiency / LAD", "ORPHA:137": "Congenital disorder of glycosylation / CDG / Carbohydrate deficient glycoprotein syndrome", "ORPHA:85": "Congenital dyserythropoietic anemia / CDA", "ORPHA:1246": "Brachydactyly-nystagmus-cerebellar ataxia syndrome / Biemond syndrome", "ORPHA:359": "Pediatric-onset glaucoma of genetic origin / Hereditary glaucoma", "ORPHA:309": "Familial partial epilepsy", "ORPHA:213500": "Ovarian cancer / Ovarian malignant tumor", "ORPHA:711": "Glycogen storage disease due to phosphoglucomutase deficiency / GSD due to phosphoglucomutase deficiency / GSD type 14 / GSDXIV / Glycogen storage disease type 14 / Glycogen storage disease type XIV / Glycogenosis due to phosphoglucomutase deficiency / Glycogenosis type 14 / Glycogenosis type XIV / Phosphoglucomutase 1 deficiency", "ORPHA:213512": "Malignant mixed Müllerian tumor of the ovary / MMMT of the ovary / Ovarian carcinosarcoma / Ovarian malignant mixed Müllerian tumor / Ovarian malignant mixed epithelial mesenchymal tumor", "ORPHA:213504": "Adenocarcinoma of ovary / Ovarian adenocarcinoma", "ORPHA:209": "Cutis laxa", "ORPHA:213564": "Rare uterine cancer / Rare cancer of uterus / Rare malignant tumor of uterus / Rare uterine malignant tumor", "ORPHA:213557": "Salivary gland type cancer of the breast / Salivary gland type carcinoma of the breast", "ORPHA:213574": "OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri", "ORPHA:1939": "OBSOLETE: Envenomization by Bothrops lanceolatus / OBSOLETE: Envenomization by the Martinique lancehead viper", "ORPHA:213569": "Rare cancer of corpus uteri / Rare malignant tumor of corpus uteri", "ORPHA:213524": "Hereditary site-specific ovarian cancer syndrome", "ORPHA:213517": "OBSOLETE: Familial ovarian cancer / OBSOLETE: Familial ovarian malignant tumor", "ORPHA:2066": "Gamma-aminobutyric acid transaminase deficiency / GABA transaminase deficiency", "ORPHA:300": "Bifunctional enzyme deficiency", "ORPHA:213531": "Metaplastic carcinoma of the breast", "ORPHA:213528": "Rare adenocarcinoma of the breast", "ORPHA:213605": "Carcinofibroma of the corpus uteri", "ORPHA:213610": "Carcinosarcoma of the corpus uteri / Malignant mixed Müllerian tumor of the corpus uteri / Mixed Müllerian cancer of corpus uteri / Uterine carcinosarcoma", "ORPHA:3161": "Congenital pulmonary sequestration / Congenital bronchopulmonary sequestration", "ORPHA:213589": "Malignant mixed epithelial and mesenchymal tumor of corpus uteri / Mixed epithelial and mesenchymal cancer of corpus uteri", "ORPHA:213600": "Adenosarcoma of the corpus uteri", "ORPHA:860": "Congenitally uncorrected transposition of the great arteries / Congenitally uncorrected transposition of the great vessels / D-transposition of the great arteries / Dextro-transposition of the great arteries / Isolated ventriculoarterial discordance / Ventriculoarterial discordance with atrioventricular concordance", "ORPHA:213625": "Leiomyosarcoma of the corpus uteri", "ORPHA:213630": "Primitive neuroectodermal tumor of the corpus uteri / Malignant peripheral neuroectodermal tumor of the corpus uteri / Peripheral neuroectodermal cancer of the corpus uteri", "ORPHA:3190": "Subpulmonary stenosis", "ORPHA:213615": "Rhabdomyosarcoma of the corpus uteri", "ORPHA:213620": "Sarcoma of the corpus uteri", "ORPHA:213721": "Undifferentiated carcinoma of the corpus uteri / Endometrial undifferentiated carcinoma", "ORPHA:1464": "Univentricular heart / Double inlet atrioventricular connection", "ORPHA:213726": "Serous carcinoma of the corpus uteri / Endometrial serous carcinoma", "ORPHA:213711": "Endometrial stromal sarcoma / Stromal sarcoma of the corpus uteri", "ORPHA:213716": "Squamous cell carcinoma of the corpus uteri / Endometrial squamous cell carcinoma", "ORPHA:213741": "OBSOLETE: Adenoid cystic carcinoma of the corpus uteri / OBSOLETE: Endometrial adenoid cystic carcinoma", "ORPHA:213746": "Transitional cell carcinoma of the corpus uteri / Endometrial transitional cell carcinoma", "ORPHA:213731": "High-grade neuroendocrine carcinoma of the corpus uteri / High-grade neuroendocrine carcinoma of the uterine corpus / Poorly differentiated neuroendocrine carcinoma of the corpus uteri / Poorly differentiated neuroendocrine carcinoma of the endometrium", "ORPHA:213736": "Low-grade neuroendocrine tumor of the corpus uteri / Low-grade neuroendocrine tumor of the uterine corpus / Well-differentiated neuroendocrine neoplasm of the endometrium / Well-differentiated neuroendocrine tumor of the corpus uteri / Well-differentiated neuroendocrine tumor of the endometrium", "ORPHA:213772": "Adenocarcinoma of the cervix uteri / Cervical adenocarcinoma", "ORPHA:213767": "Squamous cell carcinoma of the cervix uteri / Cervical squamous cell carcinoma", "ORPHA:213761": "Rare cancer of cervix uteri / Rare cervical cancer / Rare cervical malignant tumor / Rare malignant tumor of cervix uteri", "ORPHA:213751": "Malignant germ cell tumor of the corpus uteri / Germ cell cancer of the corpus uteri", "ORPHA:213792": "Adenosarcoma of the cervix uteri / Cervical adenosarcoma", "ORPHA:213787": "Carcinosarcoma of the cervix uteri / Cervical carcinosarcoma / Cervical malignant Müllerian mixed tumor / Malignant Müllerian mixed tumor of the cervix uteri", "ORPHA:213782": "Malignant mixed epithelial and mesenchymal tumor of cervix uteri / Cervical malignant mixed epithelial and mesenchymal tumor / Mixed epithelial and mesenchymal cancer of cervix uteri", "ORPHA:213777": "High-grade neuroendocrine carcinoma of the cervix uteri / High-grade neuroendocrine carcinoma of the uterine cervix / Poorly differentiated neuroendocrine carcinoma of the cervix uteri / Poorly differentiated neuroendocrine cervical carcinoma", "ORPHA:213812": "Primitive neuroectodermal tumor of the cervix uteri / Cervical malignant peripheral neuroectodermal tumor / Cervical peripheral neuroectodermal cancer / Malignant peripheral neuroectodermal tumor of the cervix uteri / Peripheral neuroectodermal cancer of cervix uteri", "ORPHA:213807": "Leiomyosarcoma of the cervix uteri / Cervical leiomyosarcoma", "ORPHA:213802": "Rhabdomyosarcoma of the cervix uteri / Cervical rhabdomyosarcoma", "ORPHA:213797": "Sarcoma of cervix uteri / Cervical malignant mesenchymal tumor / Cervical sarcoma / Malignant mesenchymal tumor of cervix uteri", "ORPHA:213833": "Glassy cell carcinoma of the cervix uteri", "ORPHA:3160": "OBSOLETE: Vascular disruption sequence", "ORPHA:213828": "Adenoid basal carcinoma of the cervix uteri / Cervical adenoid basal carcinoma", "ORPHA:213823": "Adenoid cystic carcinoma of the cervix uteri / Cervical adenoid cystic carcinoma", "ORPHA:213817": "OBSOLETE: Papillary carcinoma of the cervix uteri / OBSOLETE: Cervical papillary carcinoma", "ORPHA:3269": "Isolated radio-ulnar synostosis / Isolated congenital radioulnar fusion", "ORPHA:213837": "Malignant germ cell tumor of the cervix uteri / Cervical germ cell cancer / Cervical malignant germ cell tumor / Germ cell cancer of the cervix uteri", "ORPHA:3259": "Syndactyly-polydactyly-ear lobe syndrome", "ORPHA:216445": "Prelingual non-syndromic genetic deafness / Isolated prelingual genetic deafness / Isolated prelingual genetic hearing loss / Prelingual non-syndromic genetic hearing loss", "ORPHA:216452": "Postlingual non-syndromic genetic deafness / Isolated postlingual genetic deafness / Isolated postlingual genetic hearing loss / Postlingual non-syndromic genetic hearing loss", "ORPHA:216675": "Transposition of the great arteries / Complete transposition / TGA / TGV / Transposition of the great vessels", "ORPHA:216718": "Isolated congenitally uncorrected transposition of the great arteries / Isolated congenitally uncorrected transposition of the great vessels", "ORPHA:216729": "Congenitally uncorrected transposition of the great arteries with cardiac malformation / Congenitally uncorrected transposition of the great vessels with cardiac malformation / TGA with cardiac malformation", "ORPHA:216796": "Osteogenesis imperfecta type 1 / Adair-Dighton syndrome / Mild osteogenesis imperfecta / Non-deforming osteogenesis imperfecta / OI type 1 / Van der Hoeve syndrome", "ORPHA:216804": "Osteogenesis imperfecta type 2 / Lethal osteogenesis imperfecta / OI type 2", "ORPHA:216812": "Osteogenesis imperfecta type 3 / OI type 3 / Progressive deforming osteogenesis imperfecta / Severe osteogenesis imperfecta", "ORPHA:995": "X-linked fetal akinesia syndrome / Holmes-Benacerraf syndrome", "ORPHA:216820": "Osteogenesis imperfecta type 4 / OI type 4", "ORPHA:216828": "Osteogenesis imperfecta type 5 / OI type 5", "ORPHA:1260": "OBSOLETE: Sino-auricular heart block", "ORPHA:216972": "Niemann-Pick disease type C, severe perinatal form", "ORPHA:1441": "Ring chromosome 17 syndrome / Ring 17", "ORPHA:216978": "Niemann-Pick disease type C, late infantile neurologic onset", "ORPHA:216975": "Niemann-Pick disease type C, severe early infantile neurologic onset", "ORPHA:216986": "Niemann-Pick disease type C, adult neurologic onset", "ORPHA:216981": "Niemann-Pick disease type C, juvenile neurologic onset / Niemann-Pick disease type C, classic form", "ORPHA:1863": "NON RARE IN EUROPE: Trochlear dysplasia / NON RARE IN EUROPE: Femoral trochlear groove insufficiency / NON RARE IN EUROPE: Hypoplasia of the femoral trochlea", "ORPHA:217008": "Bockenheimer syndrome / Genuine diffuse phlebectasia", "ORPHA:216989": "Autosomal dominant dystrophic epidermolysis bullosa, Pasini type / DDEB, Pasini type", "ORPHA:217026": "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type / Hadziselimovic syndrome / Microcephaly-faciocardioskeletal syndrome", "ORPHA:217023": "OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly / OBSOLETE: Atypical HUS with thrombomodulin anomaly / OBSOLETE: D- HUS with thrombomodulin anomaly / OBSOLETE: Hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly / OBSOLETE: aHUS with thrombomodulin anomaly", "ORPHA:217034": "Male infertility with normal virilization due to meiosis defect / Azoospermia due to maturation arrest / Azoospermia due to meiosis defect / Male infertility with normal virilization due to maturation arrest", "ORPHA:217031": "NON RARE IN EUROPE: Obesity due to MC3R deficiency", "ORPHA:217049": "OBSOLETE: Rare non-syndromic cataract", "ORPHA:217046": "OBSOLETE: Autosomal recessive childhood-onset cortical cataract", "ORPHA:217260": "Progressive multifocal leukoencephalopathy / PML / Progressive multifocal leukoencephalitis", "ORPHA:217093": "Mucopolysaccharidosis type 2, attenuated form / Hunter syndrome type B / Iduronate 2-sulfatase deficiency type B / MPS2B / MPSIIB / Mucopolysaccharidosis type 2B / Mucopolysaccharidosis type II, attenuated form / Mucopolysaccharidosis type IIB", "ORPHA:217085": "Mucopolysaccharidosis type 2, severe form / Hunter syndrome type A / Iduronate 2-sulfatase deficiency type A / MPS2A / MPSIIA / Mucopolysaccharidosis type 2A / Mucopolysaccharidosis type II, severe form / Mucopolysaccharidosis type IIA", "ORPHA:217080": "Pulmonary fungal infections in patients deemed at risk", "ORPHA:217074": "Rare carcinoma of pancreas / Rare pancreatic carcinoma", "ORPHA:217071": "Renal cell carcinoma / RCC", "ORPHA:217067": "Pouchitis", "ORPHA:2700": "Noma / Cancrum oris", "ORPHA:217064": "5-fluorouracil poisoning / 5-fluorouracil intoxication", "ORPHA:217055": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A / RI-CMT type A", "ORPHA:2778": "OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis / OBSOLETE: Juvenile CRMO", "ORPHA:217052": "OBSOLETE: Infantile non-syndromic cataract", "ORPHA:217315": "Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome / Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome / Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome / Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome", "ORPHA:217330": "REN-related autosomal dominant tubulointerstitial kidney disease / ADTKD-REN / FJHN type 2 / Familial juvenile hyperuricemic nephropathy type 2 / REN-associated FJHN / REN-associated familial juvenile hyperuricemic nephropathy / REN-associated kidney disease", "ORPHA:1648": "NON RARE IN EUROPE: Dementia with Lewy body / NON RARE IN EUROPE: Cortical Lewy body disease / NON RARE IN EUROPE: DLB / NON RARE IN EUROPE: Diffuse Lewy body disease / NON RARE IN EUROPE: Lewy body dementia", "ORPHA:2566": "Chronic Epstein-Barr virus infection syndrome / CAEBV syndrome / Chronic EBV infection syndrome", "ORPHA:3385": "African trypanosomiasis / Sleeping sickness", "ORPHA:1560": "Cysticercosis", "ORPHA:344": "OBSOLETE: Arbovirus fever", "ORPHA:341": "Viral hemorrhagic fever", "ORPHA:1463": "Triatrial heart / Cor triatriatum", "ORPHA:217560": "Neuroendocrine cell hyperplasia of infancy / NCHI / NEHI", "ORPHA:217557": "Pulmonary interstitial glycogenosis / Infantile cellular interstitial pneumonitis / PIG", "ORPHA:1686": "Cardiac diverticulum", "ORPHA:217566": "Chronic respiratory distress with surfactant metabolism deficiency", "ORPHA:1864": "OBSOLETE: Congenital valvular dysplasia", "ORPHA:217410": "OBSOLETE: Circumscribed lymphatic malformation / OBSOLETE: Circumscribed lymphangioma", "ORPHA:217407": "Hereditary hypotrichosis with recurrent skin vesicles", "ORPHA:1456": "Middle aortic syndrome / Abdominal coarctation / Coarctation of the abdominal aorta / Mid-aortic dysplastic syndrome / Mid-aortic syndrome / Midaortic syndrome / Middle aortic coarctation", "ORPHA:98938": "MAC / Colobomatous microphthalmia / Microphthalmia with colobomatous cyst / Microphthalmia-anophthalmia-coloboma syndrome", "ORPHA:217467": "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency / Hereditary thrombophilia due to congenital HRG deficiency", "ORPHA:217454": "Rare hereditary thrombophilia", "ORPHA:1132": "Aortic arch defects", "ORPHA:1138": "Abnormal origin of the pulmonary artery", "ORPHA:1207": "Pulmonary atresia with ventricular septal defect", "ORPHA:217399": "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation / Congenital absence of pain with hyperhidrosis / Congenital analgesia with hyperhidrosis / Congenital indifference to pain with hyperhidrosis / Congenital insensitivity to pain with hyperhidrosis", "ORPHA:217396": "Progressive polyneuropathy with bilateral striatal necrosis", "ORPHA:982": "Pulmonary valve agenesis / Absent pulmonary valve syndrome / Congenital absence of the pulmonary valve / PVA", "ORPHA:217371": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins / Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins", "ORPHA:980": "Absence of the pulmonary artery / Aplasia of pulmonary artery / UAPA / Unilateral Pulmonary Artery Absence / Unilateral pulmonary artery agenesis", "ORPHA:217382": "Neurodegenerative syndrome due to cerebral folate transport deficiency / Cerebral folate deficiency / Cerebral folate transport deficiency / Folate receptor alpha deficiency", "ORPHA:1081": "Coronary artery congenital malformation", "ORPHA:3091": "Congenital systemic veins anomaly", "ORPHA:217613": "Mitochondrial disease with dilated cardiomyopathy", "ORPHA:217616": "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy", "ORPHA:217619": "Syndrome associated with dilated cardiomyopathy", "ORPHA:3092": "Fixed subaortic stenosis", "ORPHA:217601": "OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training", "ORPHA:217604": "Dilated cardiomyopathy", "ORPHA:2299": "Aortic arch interruption", "ORPHA:3427": "Double outlet left ventricle / DOLV", "ORPHA:217610": "Neuromuscular disease with dilated cardiomyopathy", "ORPHA:217587": "Mitochondrial disease with hypertrophic cardiomyopathy", "ORPHA:217591": "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy", "ORPHA:217595": "Syndrome associated with hypertrophic cardiomyopathy", "ORPHA:2447": "Congenital mitral malformation", "ORPHA:217598": "Non-familial hypertrophic cardiomyopathy", "ORPHA:217569": "Rare hypertrophic cardiomyopathy", "ORPHA:2037": "Congenital aortopulmonary window / Congenital aortopulmonary artery fistula / Congenital aortopulmonary septal defect", "ORPHA:217572": "Glycogen storage disease with hypertrophic cardiomyopathy / GSD with hypertrophic cardiomyopathy / Glycogenosis with hypertrophic cardiomyopathy", "ORPHA:2041": "Coronary arterial fistula", "ORPHA:217581": "Lysosomal disease with hypertrophic cardiomyopathy", "ORPHA:2039": "Congenital systemic arteriovenous fistula", "ORPHA:282": "Frontotemporal dementia / FTD", "ORPHA:217720": "Non-familial restrictive cardiomyopathy", "ORPHA:542": "Primary cutaneous lymphoma", "ORPHA:707": "Plague / Y. pestis infection / Yersinia pestis infection", "ORPHA:217638": "Lysosomal disease with restrictive cardiomyopathy", "ORPHA:217635": "Familial restrictive cardiomyopathy", "ORPHA:217632": "Restrictive cardiomyopathy", "ORPHA:217629": "Non-familial dilated cardiomyopathy", "ORPHA:217678": "Unclassified cardiomyopathy", "ORPHA:217656": "Inherited isolated arrhythmogenic cardiomyopathy / ACM / Familial isolated arrhythmogenic right ventricular dysplasia", "ORPHA:1070": "Anisakiasis", "ORPHA:220407": "Limited systemic sclerosis / Systemic sclerosis sine scleroderma", "ORPHA:220386": "Semilobar holoprosencephaly", "ORPHA:332": "Congenital intrinsic factor deficiency / Congenital pernicious anemia / Gastric intrinsic factor deficiency / Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency / IFD / Intrinsic factor deficiency", "ORPHA:220448": "Macrothrombocytopenia with mitral valve insufficiency", "ORPHA:2967": "Transcobalamin I deficiency / Haptocorrin deficiency / TCI deficiency / Transcobalamin-1 deficiency", "ORPHA:220452": "Isolated hereditary giant platelet disorder / Isolated hereditary macrothrombocytopenia / Isolated inherited giant platelet disorder / Isolated inherited macrothrombocytopenia", "ORPHA:220436": "Quebec platelet disorder / Factor V Quebec", "ORPHA:2168": "Homocarnosinosis / Homocarnosinase deficiency", "ORPHA:2195": "Dicarboxylic aminoaciduria / Glutamate-aspartate transport defect", "ORPHA:220443": "Bleeding diathesis due to thromboxane synthesis deficiency", "ORPHA:218436": "Rare cardiac rhythm disease", "ORPHA:218439": "Non-genetic cardiac rhythm disease", "ORPHA:218432": "OBSOLETE: Familial restrictive cardiomyopathy type 3 / OBSOLETE: RCM3", "ORPHA:2170": "Methylcobalamin deficiency type cblG / Functional methionine synthase deficiency type cblG", "ORPHA:3402": "Transient tyrosinemia of the newborn / Transient tyrosinemia of the neonate", "ORPHA:34": "Pipecolic acidemia / Hyperpipecolatemia", "ORPHA:2880": "Phosphoenolpyruvate carboxykinase deficiency / PEPCK deficiency", "ORPHA:220465": "Laron syndrome with immunodeficiency / Laron-like syndrome / Short stature due to STAT5b deficiency", "ORPHA:220489": "Rare hereditary hemochromatosis / Iron overload disease", "ORPHA:19": "2-hydroxyglutaric aciduria / 2-hydroxyglutaric acidemia", "ORPHA:1032": "OBSOLETE: Hyperdibasic aminoaciduria type 1", "ORPHA:221074": "Marchiafava-Bignami disease / MBD", "ORPHA:221078": "Combined hyperactive dysfunction syndrome of the cranial nerves", "ORPHA:221083": "Hemifacial spasm / Facial hemispasm / Focal myoclonus of face", "ORPHA:221098": "Glossopharyngeal neuralgia", "ORPHA:221106": "OBSOLETE: Isolated facial myokymia", "ORPHA:221109": "Cranial neuralgia / Facial neuralgia", "ORPHA:221114": "Acquired peripheral movement disorder", "ORPHA:24": "Fumaric aciduria / Fumarase deficiency", "ORPHA:1561": "Fatal infantile cytochrome C oxidase deficiency / Fatal infantile COX deficiency / Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency", "ORPHA:221039": "Hereditary sclerosing poikiloderma, Weary type", "ORPHA:1460": "Isolated complex III deficiency / Isolated CoQ-cytochrome C reductase deficiency / Isolated coenzyme Q-cytochrome C reductase deficiency / Isolated mitochondrial respiratory chain complex III deficiency / Isolated ubiquinone-cytochrome C reductase deficiency", "ORPHA:221043": "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome / POIKTMP syndrome", "ORPHA:221046": "Poikiloderma with neutropenia / Poikiloderma with neutropenia, Clericuzio type", "ORPHA:1044": "OBSOLETE: Anemia due to adenosine triphosphatase deficiency", "ORPHA:225123": "TFR2-related hemochromatosis / Hereditary hemochromatosis type 3", "ORPHA:222628": "Hereditary poikiloderma", "ORPHA:223713": "Mitochondrial oxidative phosphorylation disorder / OXPHOS disease", "ORPHA:223735": "Lymphoma", "ORPHA:223727": "Bone sarcoma", "ORPHA:221117": "Gerstmann syndrome", "ORPHA:221126": "Fowler vasculopathy / Cerebral proliferative glomeruloid vasculopathy / Encephaloclastic proliferative vasculopathy / Hydrocephaly/hydranencephaly due to cerebral vasculopathy / Proliferative vasculopathy and hydranencephaly/hydrocephaly", "ORPHA:221142": "Confetti-like macular atrophy", "ORPHA:221145": "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies / ARCL1C / Autosomal recessive cutis laxa type 1C / Urban-Rifkin-Davis syndrome", "ORPHA:221150": "OBSOLETE: Pitt-Hopkins-like syndrome", "ORPHA:228003": "Severe combined immunodeficiency due to CORO1A deficiency / SCID due to CORO1A deficiency / SCID due to coronin-1A deficiency / Severe combined immunodeficiency due to coronin-1A deficiency", "ORPHA:3398": "Thymic epithelial neoplasm / TEN / Thymic epithelial tumor", "ORPHA:228000": "Idiopathic CD4 lymphocytopenia", "ORPHA:547": "Non-Hodgkin lymphoma / NHL", "ORPHA:842": "Testicular seminomatous germ cell tumor / Seminoma of testis / Seminomatous germ cell tumor of testis", "ORPHA:227976": "Autosomal recessive optic atrophy, OPA7 type", "ORPHA:876": "Yolk sac tumor / Endodermal sinus tumor", "ORPHA:227972": "Toxic oil syndrome", "ORPHA:883": "Extragonadal teratoma", "ORPHA:227796": "Fundus albipunctatus", "ORPHA:228123": "Coccidioidomycosis / California disease / Coccidioides infection / Desert fever / Desert rheumatism / San Joaquin valley fever / Valley fever", "ORPHA:228119": "Fusariosis / Fusarium infection", "ORPHA:228113": "Anal fistula", "ORPHA:3399": "Germ cell tumor", "ORPHA:389": "Langerhans cell histiocytosis / Histiocytosis X / Langerhans cell granulomatosis", "ORPHA:228012": "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome / Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome / Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome / Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome", "ORPHA:301": "Ependymal tumor", "ORPHA:541": "Primary cutaneous CD30+ T-cell lymphoproliferative disease / Primary cutaneous Ki-1+ T-cell lymphoproliferative disease", "ORPHA:319": "Skeletal Ewing sarcoma / Osseous Ewing sarcoma", "ORPHA:227535": "Hereditary breast cancer / Familial breast cancer / Familial breast carcinoma / Hereditary breast carcinoma", "ORPHA:227786": "OBSOLETE: Familial flecked retinopathy / OBSOLETE: Hereditary flecked retinopathy", "ORPHA:94": "Astrocytoma / Astrocytic tumor", "ORPHA:513": "Acute lymphoblastic leukemia / ALL / Acute lymphoblastic leukemia/lymphoma / Acute lymphocytic leukemia / Precursor lymphoid neoplasm", "ORPHA:1957": "Esthesioneuroblastoma / Olfactory neuroblastoma", "ORPHA:226298": "Central congenital hypothyroidism / Secondary hypothyroidism", "ORPHA:2030": "Fibrosarcoma", "ORPHA:226295": "Primary congenital hypothyroidism", "ORPHA:2677": "OBSOLETE: Neuroepithelioma", "ORPHA:3148": "Malignant peripheral nerve sheath tumor / MPNST / Malignant neurilemmoma / Malignant neurofibroma / Malignant schwannoma / Neurofibrosarcoma / Neurogenic sarcoma", "ORPHA:3273": "Synovial sarcoma / Synovialosarcoma", "ORPHA:226310": "OBSOLETE: Peripheral hypothyroidism", "ORPHA:2260": "Oligomeganephronia / Oligomeganephronic renal hypoplasia", "ORPHA:225689": "Amino acid or protein metabolism disease with epilepsy", "ORPHA:225692": "Metal transport or utilization disorder with epilepsy", "ORPHA:225696": "Energy metabolism disorder with epilepsy", "ORPHA:225700": "Mitochondrial disease with epilepsy", "ORPHA:2542": "Isolated microphthalmia-anophthalmia-coloboma / Isolated anophthalmia-microphthalmia syndrome", "ORPHA:3280": "Syringomyelia", "ORPHA:2478": "Megalencephalic leukoencephalopathy with subcortical cysts / MLC / Megalencephalic leukodystrophy / Megalencephaly-cystic leukodystrophy syndrome / Vacuolating megalencephalic leukoencephalopathy with subcortical cysts / Van der Knaap syndrome", "ORPHA:225681": "Lysosomal disease with epilepsy", "ORPHA:225686": "Peroxisomal disease with epilepsy", "ORPHA:225968": "OBSOLETE: Inherited predisposition to essential thrombocythemia / OBSOLETE: Familial essential thrombocythemia", "ORPHA:225703": "Mitochondrial disease with peripheral neuropathy", "ORPHA:225707": "Metabolic neurotransmission anomaly with epilepsy", "ORPHA:225710": "Sterol metabolism disorder with epilepsy", "ORPHA:225713": "Other metabolic disease with epilepsy", "ORPHA:228418": "OBSOLETE: Microcephaly-seizures-developmental delay syndrome / OBSOLETE: MCSZ", "ORPHA:228423": "GATA2 deficiency spectrum / GATA binding protein 2 deficiency spectrum", "ORPHA:1172": "Autosomal recessive cerebellar ataxia / ARCA", "ORPHA:229720": "Syndromic agammaglobulinemia", "ORPHA:228429": "Generalized congenital lipodystrophy with myopathy / GCL4 / Generalized congenital lipodystrophy type 4", "ORPHA:2794": "NON RARE IN EUROPE: Familial otosclerosis", "ORPHA:228387": "Spondylo-megaepiphyseal-metaphyseal dysplasia", "ORPHA:228407": "Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome / TMCO1 defect syndrome", "ORPHA:2781": "Osteopetrosis and related disorders", "ORPHA:228366": "CLN7 disease / Neuronal ceroid lipofuscinosis type 7 / Turkish variant late infantile", "ORPHA:228363": "vLINCL / CLN6 disease / Neuronal ceroid lipofuscinosis type 6", "ORPHA:228357": "OBSOLETE: CLN9 disease", "ORPHA:228379": "Virus-associated trichodysplasia spinulosa / Cyclosporine-induced folliculodystrophy / Pilomatrix dysplasia / TS / Trichodysplasia spinulosa / VATS", "ORPHA:228374": "Charcot-Marie-Tooth disease type 2B5 / AR-CMT2B5 / Autosomal recessive Charcot-Marie-Tooth disease type 2B5 / SEOAN due to NEFL deficiency / Severe early-onset axonal neuropathy due to NEFL deficiency / Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency", "ORPHA:228340": "OBSOLETE: CLN4A disease", "ORPHA:228337": "CLN10 disease / CNCL / Neuronal ceroid lipofuscinosis type 10", "ORPHA:228329": "CLN1 disease / Haltia-Santavuori disease / Neuronal ceroid lipofuscinosis type 1", "ORPHA:228318": "OBSOLETE: Idiopathic hypersomnia without long sleep time", "ORPHA:228354": "CLN8 disease / Neuronal ceroid lipofuscinosis type 8", "ORPHA:228349": "CLN2 disease / Neuronal ceroid lipofuscinosis type 2", "ORPHA:228343": "CLN4 disease / CLN4B disease / Neuronal ceroid lipofuscinosis type 4", "ORPHA:228290": "White fibrous papulosis of the neck", "ORPHA:228293": "Pseudoxanthoma elasticum-like papillary dermal elastolysis / PXE-like papillary dermal elastolysis", "ORPHA:228299": "Mid-dermal elastolysis", "ORPHA:228315": "OBSOLETE: Idiopathic hypersomnia with long sleep time", "ORPHA:228243": "Elastofibroma dorsi", "ORPHA:228247": "Acquired pseudoxanthoma elasticum / Acquired Gronblad-Strandberg-Touraine syndrome / Acquired PXE", "ORPHA:228254": "Elastoma / Juvenile elastoma without osteopoikilosis / Nevus elasticus / Weidman juvenile elastoma", "ORPHA:228264": "Papular elastorrhexis", "ORPHA:228272": "Primary anetoderma / Primary macular atrophy", "ORPHA:228285": "Acquired cutis laxa / Cutis laxa acquisita", "ORPHA:3202": "Dehydrated hereditary stomatocytosis / Hereditary xerocytosis", "ORPHA:228218": "Acquired dermis elastic tissue disorder", "ORPHA:228215": "Genetic dermis elastic tissue disorder", "ORPHA:228224": "Acquired dermis elastic tissue disorder with increased elastic tissue", "ORPHA:228221": "Acquired dermis elastic tissue disorder with decreased elastic tissue", "ORPHA:1544": "Benign focal seizures of adolescence / Adolescent benign focal crisis", "ORPHA:228236": "Linear focal elastosis / Elastotic striae / Linear focal dermal elastosis", "ORPHA:228227": "Late-onset focal dermal elastosis / PXE-like late-onset focal dermal elastosis / Pseudoxanthoma-like late-onset focal dermal elastosis", "ORPHA:228145": "Multiple sclerosis variant", "ORPHA:228140": "Idiopathic ventricular fibrillation, non Brugada type / Familial paroxysmal ventricular fibrillation, non Brugada type", "ORPHA:228165": "Baló concentric sclerosis / Concentric demyelination", "ORPHA:228157": "Marburg acute multiple sclerosis / Acute multiple sclerosis, Marburg type / Acute multiple sclerosis, Marburg variant", "ORPHA:228174": "Autosomal dominant Charcot-Marie-Tooth disease type 2N / CMT2N", "ORPHA:2132": "Hemoglobin C disease", "ORPHA:2133": "Hemoglobin E disease", "ORPHA:228184": "Heart-hand syndrome / Atriodigital dysplasia", "ORPHA:228179": "Autosomal dominant Charcot-Marie-Tooth disease type 2M / CMT2M", "ORPHA:751": "NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency", "ORPHA:231531": "Hermansky-Pudlak syndrome due to BLOC-1 deficiency", "ORPHA:231537": "Hermansky-Pudlak syndrome type 8 / HPS8", "ORPHA:231512": "Hermansky-Pudlak syndrome due to BLOC-2 deficiency / HPS without pulmonary fibrosis / Hermansky-Pudlak syndrome without pulmonary fibrosis", "ORPHA:1320": "Idiopathic camptocormia / Idiopathic camptocormism / Idiopathic progressive lumbar kyphosis", "ORPHA:231500": "Hermansky-Pudlak syndrome due to BLOC-3 deficiency / HPS with pulmonary fibrosis / Hermansky-Pudlak syndrome with pulmonary fibrosis", "ORPHA:231457": "Acute pandysautonomia / Acute panautonomic GBS / Acute panautonomic Guillain-Barré syndrome / Acute panautonomic neuropathy", "ORPHA:231466": "Acute sensory ataxic neuropathy / ASAN / Acute sensory ataxic GBS / Acute sensory ataxic Guillain-Barré syndrome", "ORPHA:1576": "Infantile bilateral striatal necrosis / IBSN / Infantile striatonigral degeneration / Infantile striatonigral necrosis", "ORPHA:231450": "Acute pure sensory neuropathy / Acute pure sensory GBS / Acute pure sensory Guillain-Barré syndrome", "ORPHA:231426": "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome / PCB variant of GBS / PCB variant of Guillain-Barré syndrome / Pharyngeal-cervical-brachial weakness / Pharyngo-cervico-brachial variant of GBS / Pharyngo-cervico-brachial variant of Guillain-Barré syndrome", "ORPHA:231416": "Regional variant of Guillain-Barré syndrome / Regional variant of GBS", "ORPHA:231419": "Functional variant of Guillain-Barré syndrome / Functional variant of GBS", "ORPHA:231413": "Variant of Guillain-Barré syndrome / Variant of GBS", "ORPHA:1866": "Focal, segmental or multifocal dystonia", "ORPHA:231386": "Beta-thalassemia with other manifestations", "ORPHA:231256": "Beta-thalassemia-trichothiodystrophy syndrome", "ORPHA:231230": "Beta-thalassemia associated with another hemoglobin anomaly / Beta-thalassemia associated with another Hb anomaly", "ORPHA:18": "Distal renal tubular acidosis / Classic RTA / Familial distal primary acidosis / Renal tubular acidosis type 1 / dRTA", "ORPHA:231205": "OBSOLETE: Common variable immunodeficiency without known genetic defect", "ORPHA:1670": "Chronic diarrhea with villous atrophy", "ORPHA:2966": "Properdin deficiency", "ORPHA:231137": "Silver-Russell syndrome due to 7p11.2p13 microduplication / Silver-Russell syndrome due to 7p11.2-p13 microduplication / Silver-Russell syndrome due to dup(7)(p11.2p13) / Silver-Russell syndrome due to trisomy 7p11.2-p13 / Silver-Russell syndrome due to trisomy 7p11.2p13", "ORPHA:231140": "Silver-Russell syndrome due to an imprinting defect of 11p15", "ORPHA:231144": "Silver-Russell syndrome due to 11p15 microduplication", "ORPHA:2194": "OBSOLETE: Anti-HLA hyperimmunization", "ORPHA:231147": "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 / UPD(11)mat", "ORPHA:231120": "Beckwith-Wiedemann syndrome due to CDKN1C mutation", "ORPHA:231127": "Beckwith-Wiedemann syndrome due to 11p15 microdeletion", "ORPHA:231130": "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion", "ORPHA:231080": "High-grade dysplasia in patients with Barrett esophagus", "ORPHA:231108": "Rhabdoid tumor predisposition syndrome / RTPS", "ORPHA:231117": "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15", "ORPHA:1223": "Balantidiasis / Balantidiosis / Ciliary dysentery", "ORPHA:231040": "Familial generalized lentiginosis / Familial lentigines profusa / Familial multiple lentigines syndrome without systemic involvement", "ORPHA:230857": "Ehlers-Danlos/osteogenesis imperfecta syndrome / EDS/OI syndrome", "ORPHA:231031": "Erythema palmare hereditarium / Lane disease / Red palms disease", "ORPHA:231013": "Congenital trigeminal anesthesia", "ORPHA:230845": "Vascular-like classical Ehlers-Danlos syndrome / COL1A1-cEDS / Classic EDS-like with a propensity for arterial rupture / Classical EDS due to COL1A1 p.(Arg312Cys) / Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys) / Vascular-like classical EDS", "ORPHA:2284": "OBSOLETE: Primary T cell immunodeficiency", "ORPHA:519": "Acute myeloid leukemia / AML / Acute myelogenous leukemia", "ORPHA:233655": "Rare genetic vascular disease", "ORPHA:235835": "OBSOLETE: Congenital vascular bone syndrome with limb overgrowth", "ORPHA:235832": "Congenital vascular bone syndrome", "ORPHA:235936": "Familial hyperaldosteronism / FH", "ORPHA:235838": "OBSOLETE: Congenital vascular bone syndrome with limb shortening", "ORPHA:238305": "Infundibulo-neurohypophysitis", "ORPHA:238269": "AApoAII amyloidosis / Apolipoprotein A-II amyloidosis / Familial amyloid nephropathy due to apolipoprotein A-II variant / Familial renal amyloidosis due to apolipoprotein A-II variant / Hereditary amyloid nephropathy due to apolipoprotein A-II variant / Hereditary renal amyloidosis due to apolipoprotein A-II variant", "ORPHA:231573": "Congenital erosive and vesicular dermatosis / CEVD / Congenital erosive and vesicular dermatosis with reticulated supple scarring", "ORPHA:231556": "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome / Late-onset localized JEB-intellectual disability syndrome", "ORPHA:231637": "Rare surgically correctable form of primary aldosteronism", "ORPHA:231671": "Isolated growth hormone deficiency type IB / Congenital IGHD type IB / Congenital isolated GH deficiency type IB / Congenital isolated growth hormone deficiency type IB", "ORPHA:231679": "Isolated growth hormone deficiency type II / Congenital IGHD type II / Congenital isolated GH deficiency type II / Congenital isolated growth hormone deficiency type II", "ORPHA:231641": "Rare non surgically correctable form of primary aldosteronism", "ORPHA:231662": "Isolated growth hormone deficiency type IA / Congenital IGHD type IA / Congenital isolated GH deficiency type IA / Congenital isolated growth hormone deficiency type IA", "ORPHA:231742": "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome", "ORPHA:231692": "Isolated growth hormone deficiency type III / Congenital IGHD type III / Congenital isolated GH deficiency type III / Congenital isolated growth hormone deficiency type III / X-linked IGHD / X-linked isolated growth hormone deficiency", "ORPHA:232035": "Infectious embryofetopathy", "ORPHA:3394": "Soft tissue sarcoma / Malignant mesenchymal tumor / Malignant soft tissue tumor / Soft part sarcoma", "ORPHA:1084": "Isolated lissencephaly type 1 without known genetic defects", "ORPHA:232288": "Syndrome with alpha-thalassemia as a major feature", "ORPHA:1083": "Microlissencephaly", "ORPHA:238755": "OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H / OBSOLETE: LGMD1H", "ORPHA:238763": "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea / Megalocornea-spherophakia-secondary glaucoma syndrome", "ORPHA:238696": "Transient congenital hypothyroidism due to maternal factor", "ORPHA:238699": "Transient congenital hypothyroidism due to neonatal factor", "ORPHA:238744": "Mammary-digital-nail syndrome / MDN syndrome / Onycho-digito-mammary syndrome", "ORPHA:238766": "Ptosis-syndactyly-learning difficulties syndrome", "ORPHA:238510": "OBSOLETE: Lymphoproliferative syndrome", "ORPHA:238517": "Hypotonia-cystinuria type 1 syndrome", "ORPHA:238505": "Combined immunodeficiency due to CD27 deficiency / Autosomal recessive lymphoproliferative disease due to CD27 deficiency", "ORPHA:238475": "Familial hypercholanemia / Hereditary hypercholanemia", "ORPHA:238583": "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency / Hyperphenylalaninemia due to BH4 deficiency", "ORPHA:238557": "Chuvash erythrocytosis / Chuvash polycythemia / Von Hippel-Lindau-dependent polycythemia", "ORPHA:238569": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome / IL10-related early-onset IBD / IL10-related early-onset inflammatory bowel disease", "ORPHA:238547": "Acquired secondary polycythemia / Acquired secondary erythrocytosis", "ORPHA:238523": "Atypical hypotonia-cystinuria syndrome / Atypical HCS", "ORPHA:238536": "Congenital secondary polycythemia / Congenital secondary erythrocytosis", "ORPHA:238637": "Megacystis-megaureter syndrome / Megaureter-megacystis syndrome", "ORPHA:238621": "Ileal pouch anal anastomosis related faecal incontinence", "ORPHA:238616": "NON RARE IN EUROPE: Alzheimer disease", "ORPHA:238613": "Beckwith-Wiedemann syndrome due to NSD1 mutation", "ORPHA:238593": "IgG4-related mesenteritis / Isolated mesenteric lipodystrophy / Lipomatous mesenteritis / Liposclerotic mesenteritis / Mesenteric lipogranuloma / Mesenteric panniculitis / Sclerosing mesenteritis", "ORPHA:238691": "OBSOLETE: Congenital liver hemangioma / OBSOLETE: Congenital hepatic hemangioma", "ORPHA:238688": "Neonatal iodine exposure", "ORPHA:238670": "Isolated thyrotropin-releasing hormone deficiency / Isolated TRF deficiency / Isolated TRH deficiency / Isolated TSH-releasing factor deficiency / Isolated prothyroliberin deficiency / Isolated protirelin deficiency / Isolated thyroliberin deficiency / Isolated thyrotropin-releasing factor deficiency", "ORPHA:238666": "Isolated congenital hypogonadotropic hypogonadism / Gonadotropic deficiency / Isolated congenital gonadotropin deficiency / Isolated gonadotropin-releasing hormone deficiency", "ORPHA:238654": "Congenital primary megaureter, nonrefluxing and unobstructed form", "ORPHA:238650": "Congenital primary megaureter, refluxing form", "ORPHA:238646": "Congenital primary megaureter, obstructed form", "ORPHA:238642": "Primary megaureter, adult-onset form", "ORPHA:240371": "Syndromic obesity", "ORPHA:240266": "OBSOLETE: Systemic non-Langerhans cell histiocytosis", "ORPHA:240760": "Nijmegen breakage syndrome-like disorder / Microcephaly and chromosomal instability without immunodeficiency / NBS-like disorder / NBSLD / RAD50 deficiency", "ORPHA:331226": "Susceptibility to infection due to TYK2 deficiency", "ORPHA:331223": "Hyper-IgE syndrome", "ORPHA:331235": "Selective IgM deficiency / Selective immunoglobulin M deficiency", "ORPHA:331232": "Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells", "ORPHA:331244": "Other immunodeficiency syndrome with predominantly antibody defects", "ORPHA:331240": "Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells", "ORPHA:331249": "Primary hemophagocytic lymphohistiocytosis with hypopigmentation / Genetic HLH with hypopigmentation / Genetic hemophagocytic lymphohistiocytosis with hypopigmentation / Primary HLH with hypopigmentation", "ORPHA:331176": "Severe congenital neutropenia due to G6PC3 deficiency / SCN due to G6PC3 deficiency / SCN4 / Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency / Severe congenital neutropenia type 4 / Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome", "ORPHA:331184": "Syndrome with congenital neutropenia as a major feature / Syndrome with constitutional neutropenia as a major feature / Syndrome with genetic neutropenia as a major feature", "ORPHA:331187": "Immunodeficiency due to MASP-2 deficiency", "ORPHA:331190": "Immunodeficiency due to ficolin3 deficiency", "ORPHA:331193": "Other immunodeficiency syndromes due to defects in innate immunity", "ORPHA:331217": "Syndrome with combined immunodeficiency", "ORPHA:331220": "Syndome with combined immunodeficiency due to thymic defect", "ORPHA:330206": "Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability / Genetic MCA / Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)", "ORPHA:330197": "OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome / OBSOLETE: Genetic MCA/variable MR / OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome", "ORPHA:329998": "OBSOLETE: Lymphomatous meningitis", "ORPHA:329977": "Classic neuroendocrine tumor of appendix / Classic appendiceal neuroendocrine tumor / Classic appendix neuroendocrine tumor", "ORPHA:329984": "Goblet cell carcinoma / GCC / Goblet cell adenocarcinoid / Goblet cell carcinoid / Goblet cell tumor", "ORPHA:330012": "High altitude pulmonary edema / HAPE", "ORPHA:330015": "Lead poisoning / Lead intoxication / Plumbism / Saturnism", "ORPHA:330006": "NON RARE IN EUROPE: Macular telangiectasia type 2", "ORPHA:330009": "OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk", "ORPHA:330032": "Hemoglobin Lepore-beta-thalassemia syndrome / HbLepore-beta-thalassemia syndrome", "ORPHA:330041": "Hemoglobin M disease / M hemoglobinopathy", "ORPHA:330029": "Hypotrichosis-deafness syndrome / Hypotrichosis-hearing loss syndrome", "ORPHA:330058": "Hydroa vacciniforme", "ORPHA:330061": "Actinic prurigo / Familial polymorphous light eruption of American Indians / Hereditary polymorphous light eruption of American Indians / Hutchinson summer prurigo / Hydroa aestivale", "ORPHA:329813": "Mosaic genome-wide paternal uniparental disomy syndrome / Androgenetic/biparental mosaicism / Genome-wide paternal uniparental disomy mosaicism / Mosaic genome-wide paternal UPD", "ORPHA:329802": "5p13 microduplication syndrome / Dup(5)(p13) / Trisomy 5p13", "ORPHA:329883": "Non-hypoproteinemic hypertrophic gastropathy / Hypertrophic gastropathy without hypoproteinemia", "ORPHA:329874": "Idiopathic giant cell myocarditis / IGCM", "ORPHA:329481": "Lipoprotein glomerulopathy / LPG", "ORPHA:329942": "Transient neonatal multiple acyl-CoA dehydrogenase deficiency / Transient neonatal MAD deficiency / Transient neonatal MADD / Transient neonatal glutaric acidemia type 2 / Transient neonatal glutaric aciduria type 2", "ORPHA:329931": "C3 glomerulonephritis", "ORPHA:329967": "Intermittent hydrarthrosis", "ORPHA:329894": "Juvenile overlap myositis", "ORPHA:329888": "Juvenile idiopathic inflammatory myopathy / JIIM", "ORPHA:329918": "C3 glomerulopathy / Non-Ig-mediated MPGN / Non-Ig-mediated membranoproliferative glomerulonephritis / Non-immunoglobulin-mediated MPGN / Non-immunoglobulin-mediated membranoproliferative glomerulonephritis", "ORPHA:329903": "Immunoglobulin-mediated membranoproliferative glomerulonephritis / Ig-mediated MPGN / Ig-mediated membranoproliferative glomerulonephritis / Immunoglobulin-mediated MPGN", "ORPHA:329319": "Thrombocythemia with distal limb defects / Familial thrombocytosis with transverse limb defect / Hereditary thrombocytosis with transverse limb defect", "ORPHA:329324": "Inverse Klippel-Trénaunay syndrome / Cutaneous hemangioma with muscle or bone atrophy", "ORPHA:329303": "PLA2G6-associated neurodegeneration", "ORPHA:329457": "Distal arthrogryposis type 5D / DA5D / Distal arthrogryposis type 5 without ophthalmoparesis / Distal arthrogryposis type 5 without ophthalmoplegia", "ORPHA:329469": "Acute megakaryoblastic leukemia in children without Down syndrome / Acute megakaryoblastic leukemia in children without trisomy 21 / Non-DS-AMKL", "ORPHA:329332": "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome / Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome", "ORPHA:329341": "OBSOLETE: Limbic encephalitis with DPP6 antibodies / OBSOLETE: Limbic encephalitis with DPPX antibodies / OBSOLETE: Limbic encephalitis with dipeptidyl-peptidase 6 antibodies", "ORPHA:329217": "Cerebral sinovenous thrombosis / CSVT", "ORPHA:329211": "Autosomal dominant neovascular inflammatory vitreoretinopathy / ADNIV", "ORPHA:329206": "OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome / OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome", "ORPHA:329195": "Developmental delay with autism spectrum disorder and gait instability / Developmental delay with ASD and gait instability", "ORPHA:329191": "Tall stature-long halluces-multiple extra-epiphyses syndrome / Tall stature-scoliosis-macrodactyly of the halluces syndrome", "ORPHA:329258": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q / CMT2Q", "ORPHA:329255": "Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency", "ORPHA:329252": "OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome", "ORPHA:329242": "Congenital chronic diarrhea with protein-losing enteropathy / Congenital chronic diarrhea with exudative enteropathy", "ORPHA:329235": "X-linked central congenital hypothyroidism with late-onset testicular enlargement / IGSF1 deficiency syndrome / X-linked central congenital hypothyroidism with late-onset macroorchidism", "ORPHA:328269": "OBSOLETE: Rare bone disease with limb reduction defect / OBSOLETE: Rare bone disease with limb hypoplasia", "ORPHA:329173": "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis", "ORPHA:325697": "Genetic 46,XX difference of sex development / Genetic 46,XX DSD / Genetic 46,XX disorder of sex development", "ORPHA:325690": "Genetic difference of sex development / Genetic DSD / Genetic disorder of sex development", "ORPHA:325713": "Genetic 46,XY difference of sex development of endocrine origin / Genetic 46,XY DSD of endocrine origin / Genetic 46,XY disorder of sex development of endocrine origin", "ORPHA:325706": "Genetic 46,XY difference of sex development / Genetic 46,XY DSD / Genetic 46,XY disorder of sex development", "ORPHA:325638": "Syndrome with difference of sex development of gynecological interest / Syndrome with DSD of gynecological interest / Syndrome with disorder of sex development of gynecological interest", "ORPHA:325665": "Genetic difference of sex development of gynecological interest / Genetic DSD of gynecological interest / Genetic disorder of sex development of gynecological interest", "ORPHA:325620": "Difference of sex development of gynecological interest / DSD of gynecological interest / Disorder of sex development of gynecological interest", "ORPHA:325632": "46,XY difference of sex development of gynecological interest / 46,XY DSD of gynecological interest / 46,XY disorder of sex development of gynecological interest", "ORPHA:325511": "46,XY difference of sex development due to a cholesterol synthesis defect / 46,XY DSD due to a cholesterol synthesis defect / 46,XY disorder of sex development due to a cholesterol synthesis defect", "ORPHA:325524": "Classic congenital lipoid adrenal hyperplasia due to STAR deficency / Classic CLAH", "ORPHA:325357": "46,XY difference of sex development due to impaired androgen production / 46,XY DSD due to impaired androgen production / 46,XY disorder of sex development due to impaired androgen production", "ORPHA:325448": "Leydig cell hypoplasia due to LHB deficiency / 46,XY DSD due to LHB deficiency / 46,XY DSD due to luteinizing hormone subunit beta deficiency / 46,XY disorder of sex development due to LHB deficiency / 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency / Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency", "ORPHA:325546": "Sex chromosome difference of sex development / Sex chromosome DSD / Sex chromosome disorder of sex development", "ORPHA:325529": "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency", "ORPHA:325537": "46,XY difference of sex development induced by maternal exposure to endocrine disruptors / 46,XY DSD induced by maternal-exposure to endocrine disruptors / 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors", "ORPHA:325118": "46,XY disorder of gonadal development", "ORPHA:325351": "46,XY difference of sex development of endocrine origin / 46,XY DSD of endocrine origin / 46,XY disorder of sex development of endocrine origin", "ORPHA:325055": "46,XX disorder of gonadal development", "ORPHA:325109": "Syndrome with 46,XX difference of sex development / Syndrome with 46,XX DSD / Syndrome with 46,XX disorder of sex development", "ORPHA:325099": "46,XX difference of sex development induced by exogenous maternal-derived androgen / 46,XX DSD induced by exogenous maternal-derived androgen / 46,XX disorder of sex development induced by exogenous maternal-derived androgen", "ORPHA:325093": "46,XX difference of sex development induced by endogenous maternal-derived androgen / 46,XX DSD induced by endogenous maternal-derived androgen / 46,XX disorder of sex development induced by endogenous maternal-derived androgen", "ORPHA:325061": "46,XX difference of sex development induced by fetoplacental androgens excess / 46,XX DSD induced by fetoplacental androgens excess / 46,XX disorder of sex development induced by fetoplacental androgens excess", "ORPHA:324982": "OBSOLETE: Adult-onset SAPHO syndrome / OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome", "ORPHA:324989": "OBSOLETE: Juvenile-onset SAPHO syndrome / OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome", "ORPHA:324999": "JMP syndrome / Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome", "ORPHA:325004": "CANDLE syndrome / Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome", "ORPHA:324960": "Unexplained periodic fever syndrome of childhood", "ORPHA:324972": "MAGIC syndrome / Mouth and genital ulcers-inflamed cartilage syndrome", "ORPHA:324977": "Proteasome-associated autoinflammatory syndrome / ALDD syndrome / Autoinflammation-lipodystrophy-dermatosis syndrome / PRAAS / Proteasome disability syndrome", "ORPHA:324939": "Periodic fever syndrome of childhood", "ORPHA:324942": "Pyogenic autoinflammatory syndrome of childhood", "ORPHA:324950": "Granulomatous autoinflammatory syndrome of childhood", "ORPHA:324953": "Unclassified autoinflammatory syndrome of childhood", "ORPHA:324927": "Pyogenic autoinflammatory syndrome", "ORPHA:324930": "Granulomatous autoinflammatory syndrome", "ORPHA:324933": "Mixed autoinflammatory and autoimmune syndrome", "ORPHA:324936": "Unclassified autoinflammatory syndrome", "ORPHA:324764": "Trichorhinophalangeal syndrome", "ORPHA:324761": "Microcephalic primordial dwarfism", "ORPHA:324924": "Hereditary periodic fever syndrome", "ORPHA:324767": "Non-familial rare disease with dilated cardiomyopathy", "ORPHA:324718": "ABetaA21G amyloidosis / ABeta amyloidosis, Flemish type / ABetaA21G-related amyloidosis / HCHWA, Flemish type / Hereditary cerebral hemorrhage with amyloidosis, Flemish type", "ORPHA:324648": "Invasive non-typhoidal salmonellosis / Invasive non-typhoidal salmonella disease / iNTS disease", "ORPHA:324636": "Autoerythrocyte sensitization syndrome / GDS / Gardner-Diamond syndrome / Painful bruising syndrome / Psychogenic purpura", "ORPHA:324611": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation / CMT2 due to KIF5A mutation", "ORPHA:324632": "Hendra virus infection", "ORPHA:324625": "Chikungunya", "ORPHA:324601": "X-linked cleft palate and ankyloglossia", "ORPHA:324585": "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain / Autosomal dominant intermediate CMT disease with neuropathic pain", "ORPHA:324569": "Pontocerebellar hypoplasia type 8 / PCH8 / Pontocerebellar hypoplasia due to CHMP1A mutation", "ORPHA:324561": "Hypopigmentation-punctate palmoplantar keratoderma syndrome / Cole disease / Guttate hypopigmentation and punctate palmoplantar keratoderma / Hypopigmentation and punctate keratosis of the palms and soles", "ORPHA:324530": "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation / APLAID", "ORPHA:324535": "Combined oxidative phosphorylation defect type 11 / COXPD11", "ORPHA:324525": "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation / Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation / Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation", "ORPHA:324381": "Hereditary inclusion body myopathy type 4 / HIBM4", "ORPHA:324364": "Mixed sclerosing bone dystrophy with extra-skeletal manifestations", "ORPHA:324353": "Congenital achiasma", "ORPHA:324321": "Sinoatrial node dysfunction and deafness / Sinoatrial node dysfunction and hearing loss", "ORPHA:324307": "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome", "ORPHA:324299": "Multiple paragangliomas associated with polycythemia / Multiple paragangliomas associated with erythrocytosis / Paraganglioma-somatostatinoma-polycythemia syndrome", "ORPHA:324294": "T-cell immunodeficiency with epidermodysplasia verruciformis / T-cell immunodeficiency due to RHOH deficiency", "ORPHA:322126": "Genetic tumor of hematopoietic and lymphoid tissues", "ORPHA:319691": "NON RARE IN EUROPE: Partial color blindness, protan type / NON RARE IN EUROPE: Partial achromatopsia, protan type / NON RARE IN EUROPE: Protanopia", "ORPHA:319698": "NON RARE IN EUROPE: Partial color blindness, deutan type / NON RARE IN EUROPE: Deuteranopia / NON RARE IN EUROPE: Partial achromatopsia, deutan type", "ORPHA:319705": "NON RARE IN EUROPE: Parkinson disease", "ORPHA:319719": "Autoinflammatory syndrome of childhood", "ORPHA:320317": "OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome", "ORPHA:320332": "X-linked pure spastic paraplegia", "ORPHA:320335": "Pure or complex hereditary spastic paraplegia / Pure or complex familial spastic paraplegia / Pure or complicated familial spastic paraplegia / Pure or complicated hereditary spastic paraplegia", "ORPHA:320342": "Pure or complex autosomal dominant spastic paraplegia / Pure or complicated autosomal dominant spastic paraplegia", "ORPHA:320346": "Pure or complex autosomal recessive spastic paraplegia / Pure or complicated autosomal recessive spastic paraplegia", "ORPHA:320350": "Pure or complex X-linked spastic paraplegia / Pure or complicated X-linked spastic paraplegia", "ORPHA:319543": "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency / Autosomal dominant MSMD due to a partial deficiency", "ORPHA:319547": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency / MSMD due to complete IFNgammaR2 deficiency / MSMD due to complete interferon gamma receptor 2 deficiency / Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency", "ORPHA:319535": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency / Autosomal recessive MSMD due to a complete deficiency", "ORPHA:319539": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency / Autosomal recessive MSMD due to a partial deficiency", "ORPHA:319519": "Combined oxidative phosphorylation defect type 14 / COXPD14", "ORPHA:319524": "Combined oxidative phosphorylation defect type 15 / COXPD15", "ORPHA:319509": "Combined oxidative phosphorylation defect type 9 / COXPD9", "ORPHA:319589": "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency / Autosomal dominant MSMD due to partial IFNgammaR2 deficiency / Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency / Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency", "ORPHA:319595": "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency / MSMD due to partial STAT1 deficiency / MSMD due to partial signal transducer and activator of transcription 1 deficiency / Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency", "ORPHA:319574": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency / Autosomal recessive MSMD due to partial IFNgammaR2 deficiency / Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency / Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency", "ORPHA:319581": "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency / Autosomal dominant MSMD due to partial IFNgammaR1 deficiency / Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency / Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency", "ORPHA:319563": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency / MSMD due to complete ISG15 deficiency", "ORPHA:319569": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency / Autosomal recessive MSMD due to partial IFNgammaR1 deficiency / Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency / Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency", "ORPHA:319558": "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency / MSMD due to complete IL12B deficiency / MSMD due to complete interleukin 12B deficiency / Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency", "ORPHA:319651": "Constitutional megaloblastic anemia with severe neurologic disease / DHFR deficiency / Dihydrofolate reductase deficiency", "ORPHA:319646": "PGM1-CDG / CDG syndrome type It / CDG-It / CDG1T / Congenital disorder of glycosylation type 1t / Congenital disorder of glycosylation type It / PGM1-related congenital disorder of glycosylation / Phosphoglucomutase-1 deficiency", "ORPHA:319640": "Retinal macular dystrophy type 2 / MCDR2", "ORPHA:319635": "Amyloidosis cutis dyschromia / Amyloidosis cutis dyschromica", "ORPHA:319623": "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency / X-linked MSMD due to CYBB deficiency", "ORPHA:319612": "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency / X-linked MSMD due to IKBKG deficiency / X-linked MSMD due to NEMO deficiency / X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency", "ORPHA:319605": "X-linked mendelian susceptibility to mycobacterial diseases / X-linked MSMD", "ORPHA:319684": "NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency", "ORPHA:319681": "NON RARE IN EUROPE: Lactase non-persistence in adulthood", "ORPHA:319678": "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "ORPHA:319667": "Primary lymphoma of the conjunctiva / Primary lymphoid conjunctival tumor", "ORPHA:319658": "NON RARE IN EUROPE: Unexplained intellectual disability", "ORPHA:319254": "Kyasanur forest disease / Kyasanur hemorrhagic fever / Monkey disease / Monkey fever", "ORPHA:319266": "Omsk hemorrhagic fever", "ORPHA:319276": "Clear cell renal carcinoma / CCRCC / Clear cell renal cell adenocarcinoma / Clear cell renal cell carcinoma", "ORPHA:319239": "Brazilian hemorrhagic fever / Sabia hemorrhagic fever", "ORPHA:319244": "Chapare hemorrhagic fever", "ORPHA:319247": "Hantavirus pulmonary syndrome", "ORPHA:319314": "OBSOLETE: Renal cell carcinoma associated with neuroblastoma / OBSOLETE: Renal cell carcinoma after neuroblastoma", "ORPHA:319319": "Renal medullary carcinoma", "ORPHA:319322": "Mucinous tubular and spindle cell renal carcinoma", "ORPHA:319325": "Tubulocystic renal cell carcinoma", "ORPHA:319287": "Multilocular cystic renal neoplasm of low malignant potential / MCRCC / Multilocular clear cell adenocarcinoma / Multilocular clear cell carcinoma / Multilocular clear cell renal cell adenocarcinoma / Multilocular clear cell renal cell carcinoma / Multilocular cystic renal cell adenocarcinoma / Multilocular cystic renal cell carcinoma", "ORPHA:319298": "Papillary renal cell carcinoma / Papillary renal cell adenocarcinoma", "ORPHA:319303": "Chromophobe renal cell carcinoma / Chromophobe renal cell adenocarcinoma", "ORPHA:319308": "MiT family translocation renal cell carcinoma / Carcinoma associated with MITF/TFE translocation / Translocation renal cell carcinoma", "ORPHA:319328": "Inherited renal cancer-predisposing syndrome", "ORPHA:319340": "Carney complex-trismus-pseudocamptodactyly syndrome / Carney complex variant", "ORPHA:319480": "Acute myeloid leukemia with CEBPA somatic mutations / AML with CEBPA somatic mutations", "ORPHA:319504": "Combined oxidative phosphorylation defect type 8 / COXPD8", "ORPHA:319494": "Familial nonmedullary thyroid carcinoma", "ORPHA:319465": "Inherited acute myeloid leukemia / Familial AML / Inherited AML / Pure familial AML / Pure familial acute myeloid leukemia", "ORPHA:319462": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations", "ORPHA:319205": "Bilateral massive adrenal hemorrhage / BMAH / Bilateral adrenal hemorrhage", "ORPHA:319229": "Bolivian hemorrhagic fever / Machupo hemorrhagic fever", "ORPHA:319234": "Venezuelan hemorrhagic fever / Guanarito hemorrhagic fever", "ORPHA:319223": "Argentine hemorrhagic fever / Argentinian hemorrhagic fever / Junin hemorrhagic fever", "ORPHA:319160": "Congenital myopathy with internal nuclei and atypical cores / CNM4 / Centronuclear myopathy type 4", "ORPHA:319189": "Familial cortical myoclonus", "ORPHA:319192": "Diencephalic-mesencephalic junction dysplasia", "ORPHA:317419": "T-B- severe combined immunodeficiency / T-B- SCID", "ORPHA:317416": "T-B+ severe combined immunodeficiency / T-B+ SCID", "ORPHA:317428": "Combined immunodeficiency due to ORAI1 deficiency / CID due to ORAI1 deficiency", "ORPHA:317425": "Severe combined immunodeficiency due to DNA-PKcs deficiency / SCID due to DNA-PKcs deficiency", "ORPHA:317430": "Combined immunodeficiency due to STIM1 deficiency / CID due to STIM1 deficiency", "ORPHA:317473": "Pancytopenia due to IKZF1 mutations / CID due to IKAROS deficiency / Combined immunodeficiency due to IKAROS deficiency", "ORPHA:317476": "XMEN / CID due to MAGT1 deficiency / Combined immunodeficiency due to MAGT1 deficiency / X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia", "ORPHA:315350": "Autoimmune disease with skin involvement", "ORPHA:315311": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form / Classic 21-OHD CAH, simple virilizing form", "ORPHA:315306": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form / Classic 21-OHD CAH, salt wasting form", "ORPHA:314993": "Cataract-congenital heart disease-neural tube defect syndrome", "ORPHA:314970": "Lymphocytic hypereosinophilic syndrome / HES-L / Lymphocytic variant HES / Lymphoid HES", "ORPHA:314962": "Secondary hypereosinophilic syndrome / HES-R / Reactive hypereosinophilic syndrome / Secondary HES", "ORPHA:314950": "Primary hypereosinophilic syndrome / Clonal hypereosinophilic syndrome / HES-M / HES-N / Neoplastic hypereosinophilic syndrome / Primary HES", "ORPHA:314946": "OBSOLETE: Mycobacterium xenopi infection", "ORPHA:314928": "NON RARE IN EUROPE: Normal pressure hydrocephalus / NON RARE IN EUROPE: Chronic adult hydrocephalus", "ORPHA:316244": "Partial deletion of the short arm of chromosome 12 syndrome / Partial deletion of chromosome 12p / Partial monosomy of chromosome 12p / Partial monosomy of the short arm of chromosome 12", "ORPHA:316235": "Autosomal dominant spastic ataxia / AD-SPAX", "ORPHA:316240": "Autosomal recessive spastic ataxia / AR-SPAX", "ORPHA:316226": "Spastic ataxia / SPAX", "ORPHA:314701": "Primary systemic amyloidosis / Systemic AL amyloidosis", "ORPHA:314697": "Acquired porencephaly", "ORPHA:314709": "Primary localized amyloidosis / Localized AL amyloidosis", "ORPHA:314667": "TMEM165-CDG / CDG syndrome type IIk / CDG-IIk / CDG2K / Carbohydrate deficient glycoprotein syndrome type IIk / Congenital disorder of glycosylation type 2k / Congenital disorder of glycosylation type IIk", "ORPHA:314689": "Combined immunodeficiency due to STK4 deficiency / CID due to STK4 deficiency", "ORPHA:314684": "Primary bone lymphoma", "ORPHA:314662": "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia", "ORPHA:314655": "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion / 5q31.3 microdeletion syndrome / Del(5)(q31.3) / Monosomy 5q31.3", "ORPHA:314629": "CLN11 disease / Neuronal ceroid lipofuscinosis type 11", "ORPHA:314637": "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency / COXPD10 / Combined oxidative phosphorylation defect type 10", "ORPHA:314822": "Primary renal tubular acidosis", "ORPHA:314889": "Autosomal dominant proximal renal tubular acidosis / AD pRTA", "ORPHA:314777": "Familial isolated pituitary adenoma / FIPA", "ORPHA:314786": "Silent pituitary adenoma", "ORPHA:314790": "Null pituitary adenoma", "ORPHA:314753": "Functioning pituitary adenoma / Endocrine active pituitary adenoma / Secreting pituitary adenoma", "ORPHA:314759": "Mixed functioning pituitary adenoma / Mixed secreting pituitary adenoma", "ORPHA:314718": "Lethal arteriopathy syndrome due to fibulin-4 deficiency", "ORPHA:314721": "Atypical dentin dysplasia due to SMOC2 deficiency / Dentin dysplasia type 1 with microdontia and shape anomalies", "ORPHA:314749": "Rare disease with adrenal Cushing syndrome as a major feature", "ORPHA:370127": "Medich giant platelet syndrome / Medich macrothrombocytopenia", "ORPHA:370114": "Combined cervical dystonia", "ORPHA:370109": "Ataxia-telangiectasia variant / v-AT", "ORPHA:370106": "Rare disorder with dystonia and other neurologic or systemic manifestation", "ORPHA:370396": "Small cell carcinoma of the ovary / SCCO / Small cell ovarian carcinoma", "ORPHA:370334": "Extraskeletal Ewing sarcoma / EOE / Extraosseous Ewing sarcoma / Extraosseous Ewing tumor / Extraskeletal Ewing tumor", "ORPHA:370131": "White platelet syndrome", "ORPHA:370046": "Didymosis aplasticosebacea / Aplasia cutis congenita-nevus sebaceus syndrome", "ORPHA:370034": "Familial syringomyelia", "ORPHA:370039": "Angora hair nevus / Schauder syndrome", "ORPHA:370026": "Acute myeloid leukemia with t(8;16)(p11;p13) translocation / AML with t(8;16)(p11;p13) translocation", "ORPHA:370015": "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type / SEMDIST / Spondyloepimetaphyseal dysplasia with severe short stature", "ORPHA:370019": "Spondylometaphyseal dysplasia, Czarny-Ratajczak type", "ORPHA:370088": "Acute infantile liver failure-multisystemic involvement syndrome", "ORPHA:370076": "Fetal carbamazepine syndrome", "ORPHA:370068": "Fetal anticonvulsant syndrome / FACS / Fetal AEDS / Fetal antiepileptic drug syndrome", "ORPHA:370052": "SCALP syndrome / Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome / Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome", "ORPHA:370059": "NEVADA syndrome / Nevus epidermicus verrucosus with angiodysplasia and aneurysms", "ORPHA:371054": "OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature / OBSOLETE: X-linked CDG with intellectual disability as a major feature", "ORPHA:371047": "Congenital disorder of glycosylation with neurological involvement / CDG with neurological involvement", "ORPHA:371071": "Congenital disorder of glycosylation with epilepsy as a major feature / CDG with epilepsy as a major feature", "ORPHA:371064": "OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature / OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature", "ORPHA:371007": "Congenital muscular dystrophy with hyperlaxity / CMDH", "ORPHA:370997": "Muscle-eye-brain disease with bilateral multicystic leucodystrophy / MEB disease with bilateral multicystic leucodystrophy", "ORPHA:371040": "Primary qualitative or quantitative defects of alpha-dystroglycan / Primary alpha-dystroglycanopathy / Primary dystroglycanopathy", "ORPHA:371024": "Qualitative or quantitative defects of alpha-dystroglycan / Alpha-dystroglycanopathy / Dystroglycanopathy", "ORPHA:371183": "Congenital disorder of glycosylation with cardiac malformation as a major feature / CDG with cardiac malformation as a major feature", "ORPHA:371176": "Congenital disorder of glycosylation with dilated cardiomyopathy / CDG with dilated cardiomyopathy", "ORPHA:371195": "Congenital disorder of glycosylation-related bone disorder / CDG-related bone disorder", "ORPHA:371188": "Congenital disorder of glycosylation with intestinal involvement / CDG with intestinal involvement", "ORPHA:371157": "Congenital disorder of glycosylation with hepatic involvement / CDG with hepatic involvement", "ORPHA:370953": "Congenital muscular dystrophy due to dystroglycanopathy / CMD due to dystroglycanopathy", "ORPHA:370933": "GM3 synthase deficiency / ST3GAL5-CDG", "ORPHA:370938": "Salt-and-pepper syndrome", "ORPHA:365563": "Primary short bowel syndrome", "ORPHA:369920": "Pontocerebellar hypoplasia type 9 / PCH9", "ORPHA:369942": "CADDS / Contiguous ABCD1 DXS1357E deletion syndrome / Zellweger-like contiguous gene deletion syndrome", "ORPHA:369955": "Methylmalonic acidemia with homocystinuria, type cblJ / CblJ defects / Cobalamin J defect / Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ / Methylmalonic aciduria with homocystinuria, type cblJ", "ORPHA:369970": "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome / MMCAT syndrome", "ORPHA:369962": "Methylmalonic acidemia with homocystinuria, type cblX / Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX / Methylmalonic aciduria with homocystinuria, type cblX", "ORPHA:369979": "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome", "ORPHA:369992": "Severe dermatitis-multiple allergies-metabolic wasting syndrome / Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome / SAM syndrome", "ORPHA:370002": "Focal palmoplantar keratoderma with joint keratoses", "ORPHA:369999": "Diffuse palmoplantar keratoderma with painful fissures", "ORPHA:370010": "Intellectual disability-facial dysmorphism-hand anomalies syndrome", "ORPHA:370006": "Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome", "ORPHA:369852": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome / Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome / VPS45 deficiency / Vacuolar sorting protein 45 deficiency", "ORPHA:369861": "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome / SIFD syndrome", "ORPHA:369867": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C / RI-CMT type C", "ORPHA:369881": "2p21 microdeletion syndrome without cystinuria / Del(2)(p21) without cystinuria", "ORPHA:369886": "Homozygous 2p21 microdeletion syndrome / 2p21 contiguous gene deletion syndrome", "ORPHA:369894": "OBSOLETE: Early infantile epileptic encephalopathy without suppression burst", "ORPHA:369897": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies / mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies", "ORPHA:369902": "OBSOLETE: DDX59-related orofaciodigital syndrome", "ORPHA:369913": "Combined oxidative phosphorylation defect type 17 / COXPD17", "ORPHA:364063": "Infantile epileptic-dyskinetic encephalopathy", "ORPHA:364055": "Severe early-childhood-onset retinal dystrophy / EOSRD / Early-onset severe retinal dystrophy / SECORD", "ORPHA:364039": "Hydroa vacciniforme-like lymphoma / Angiocentric cutaneous T-cell lymphoma of childhood / HVLL / Hydroa-like cutaneous T-cell lymphoma", "ORPHA:364043": "ALK-positive large B-cell lymphoma / ALK+ LBCL / ALK+ large B-cell lymphoma", "ORPHA:364033": "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood / Systemic EBV+ T-cell LPD of childhood / Systemic EBV-positive T-cell lymphoproliferative disease of childhood", "ORPHA:363999": "Non-immune hydrops fetalis / NIHF / Non-immune HF / Non-immune fetal edema / Non-immune fetal hydrops", "ORPHA:364013": "Immune hydrops fetalis / IHF / Immune HF / Immune fetal edema / Immune fetal hydrops", "ORPHA:363989": "Familial benign flecked retina", "ORPHA:823": "Spina bifida and other spinal dysraphisms / Isolated spina bifida / Isolated spinal dysraphism", "ORPHA:363992": "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome / 15q26.3 microdeletion syndrome", "ORPHA:363976": "Giant cell tumor of bone / GCT of bone / Osteoclastoma", "ORPHA:363981": "Charcot-Marie-Tooth disease type 4B3 / CMT4B3 / Charcot-Marie-Tooth disease with focally folded myelin", "ORPHA:363969": "Autosomal recessive cerebral atrophy", "ORPHA:363972": "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia / CBL syndrome / Noonan syndrome-like disorder with JMML", "ORPHA:363965": "Koolen-De Vries syndrome due to a point mutation", "ORPHA:363746": "Balint syndrome / Balint-Holmes syndrome / Optic ataxia-gaze apraxia-simultanagnosia syndrome", "ORPHA:363727": "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia", "ORPHA:363722": "Alexander disease type II / AxD type II", "ORPHA:363717": "Alexander disease type I / AxD type I", "ORPHA:363694": "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome / HUPRA syndrome", "ORPHA:363680": "2p13.2 microdeletion syndrome / Del(2)(p13.2)", "ORPHA:363677": "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia", "ORPHA:364803": "Rare bone disease related to a common gene or pathway defect", "ORPHA:364817": "OBSOLETE: Aggrecan-related bone disorder", "ORPHA:364820": "TRPV4-related bone disorder", "ORPHA:364574": "Acrofacial dysostosis", "ORPHA:364571": "Dysostosis with limb and face anomalies as a major feature", "ORPHA:364577": "Intellectual disability-brachydactyly-Pierre Robin syndrome", "ORPHA:364559": "Dysostosis", "ORPHA:364541": "Otopalatodigital syndrome spectrum disorder / OPD spectrum disorder / OPSD", "ORPHA:364568": "Dysostosis with limb anomaly as a major feature", "ORPHA:364526": "Primary bone dysplasia / Primary osteodysplasia / Primary skeletal dysplasia", "ORPHA:364536": "Primary bone dysplasia with micromelia / Primary osteodysplasia with micromelia / Primary skeletal dysplasia with micromelia", "ORPHA:364531": "Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments / Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments / Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments", "ORPHA:364198": "Bipartite talus", "ORPHA:363409": "Fetal akinesia-cerebral and retinal hemorrhage syndrome / LCCS5 / Lethal congenital contracture syndrome type 5", "ORPHA:363412": "Hypomyelination with brain stem and spinal cord involvement and leg spasticity / HBSL", "ORPHA:363424": "Multiple mitochondrial dysfunctions syndrome type 3 / IBA57 deficiency / MMDS3", "ORPHA:363314": "Genetic intestinal polyposis / Familial intestinal polyposis", "ORPHA:363300": "Genetic intractable diarrhea of infancy", "ORPHA:363306": "Genetic intestinal disease due to fat malabsorption", "ORPHA:363396": "High myopia-sensorineural deafness syndrome / High myopia-sensorineural hearing loss syndrome", "ORPHA:363266": "OBSOLETE: Rare hereditary iron overload disease", "ORPHA:363250": "Ciliopathy", "ORPHA:363294": "Genetic syndromic Pierre Robin syndrome", "ORPHA:363245": "Genetic progeroid syndrome", "ORPHA:363203": "Ring chromosome syndrome", "ORPHA:363189": "Congenital anomaly of the great veins", "ORPHA:363629": "OBSOLETE: GMPPB-related congenital muscular dystrophy / OBSOLETE: GMPPB-related CMD", "ORPHA:363649": "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome / MDP syndrome / MDPL syndrome / Mandibular hypoplasia-hearing loss-progeroid syndrome", "ORPHA:363659": "20q11.2 microduplication syndrome / Dup(20)(q11.2)", "ORPHA:363665": "Acroosteolysis-keloid-like lesions-premature aging syndrome / Premature aging syndrome, Penttinen type", "ORPHA:363540": "Leukoencephalopathy with mild cerebellar ataxia and white matter edema", "ORPHA:363543": "Autosomal recessive limb-girdle muscular dystrophy type 2R / Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency / LGMD2R", "ORPHA:363549": "Acute encephalopathy with biphasic seizures and late reduced diffusion / AESD / AIEF / Acute infantile encephalopathy predominantly affecting the frontal lobes", "ORPHA:363558": "New-onset refractory status epilepticus / NORSE", "ORPHA:363567": "Acute encephalopathy with inflammation-mediated status epilepticus", "ORPHA:363579": "Extragonadal germ cell tumor", "ORPHA:363582": "Gonadal germ cell tumor", "ORPHA:363504": "Germ cell tumor of testis / Testicular germ cell tumor", "ORPHA:363494": "Non-seminomatous germ cell tumor of testis / Non-dysgerminomatous germ cell tumor of testis / Testicular non seminomatous germ cell tumor / Testicular non-dysgerminomatous germ cell tumor", "ORPHA:363534": "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form / mtDNA depletion syndrome, hepatocerebrorenal form", "ORPHA:363447": "Autosomal dominant childhood-onset proximal spinal muscular atrophy / Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy / SMALED", "ORPHA:363478": "Paratesticular adenocarcinoma / Adenocarcinoma of the paratestis", "ORPHA:363472": "Tumor of testis and paratestis / Testicular and paratesticular tumor", "ORPHA:363489": "Sex cord-stromal tumor of testis / Testicular sex cord-stromal tumor", "ORPHA:363483": "Testicular teratoma / Teratoma of the testis", "ORPHA:357329": "Combined immunodeficiency due to IL21R deficiency / CID due to IL21R deficiency / Combined immunodeficiency due to interleukin 21 receptor deficiency", "ORPHA:357332": "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome / Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome / Wahab syndrome", "ORPHA:357220": "Primary essential cutis verticis gyrata", "ORPHA:357225": "Primary non-essential cutis verticis gyrata", "ORPHA:357237": "Combined immunodeficiency due to CARD11 deficiency / CID due to CARD11 deficiency / Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency", "ORPHA:357506": "Genetic non-syndromic renal or urinary tract malformation", "ORPHA:357502": "Idiopathic nephrotic syndrome", "ORPHA:356978": "D,L-2-hydroxyglutaric aciduria / Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia / Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria / D,L-2-HGA / D,L-2-hydroxyglutaric acidemia", "ORPHA:356947": "3q26q27 microdeletion syndrome / Del(3)(q26q27) / Monosomy 3q26q27", "ORPHA:357008": "Hemolytic uremic syndrome with DGKE deficiency / HUS with DGKE deficiency", "ORPHA:357034": "Non-hereditary retinoblastoma", "ORPHA:357027": "Hereditary retinoblastoma", "ORPHA:357064": "Autosomal recessive cutis laxa type 2B / ARCL2, progeroid type / ARCL2B / Autosomal recessive cutis laxa type 2, progeroid type", "ORPHA:357058": "Autosomal recessive cutis laxa type 2A / ARCL2A", "ORPHA:357158": "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome / Macroblepharon-ectropion-hypertelorism-macrostomia syndrome", "ORPHA:357131": "Venous thoracic outlet syndrome / Effort subclavian vein thrombosis / Paget-Schrotter disease / VTOS / Venous TOS / Venous cervical rib syndrome / Venous costoclavicular syndrome / Venous hyperabduction syndrome / Venous scalenus anticus syndrome / Venous thoracic outlet compression syndrome", "ORPHA:357107": "Arterial thoracic outlet syndrome / ATOS / Arterial TOS / Arterial cervical rib syndrome / Arterial costoclavicular syndrome / Arterial hyperabduction syndrome / Arterial scalenus anticus syndrome / Arterial thoracic outlet compression syndrome", "ORPHA:352654": "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome / Autosomal recessive spastic paraplegia type 79", "ORPHA:352662": "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome", "ORPHA:352657": "Hereditary benign intraepithelial dyskeratosis / HBID / Hereditary benign corneal intraepithelial dyskeratosis", "ORPHA:352636": "Phalangeal microgeodic syndrome / Phalangeal osteolysis", "ORPHA:352629": "16q24.1 microdeletion syndrome / Del(16)(q24.1) / Monosomy 16q24.1", "ORPHA:352613": "Male infertility due to NANOS1 mutation", "ORPHA:352587": "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation / Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome", "ORPHA:352728": "Disorder of melanin metabolism", "ORPHA:352731": "Oculocutaneous albinism type 1 / OCA1", "ORPHA:352734": "Minimal pigment oculocutaneous albinism type 1 / MP OCA type 1 / OCA1-MP", "ORPHA:352737": "Temperature-sensitive oculocutaneous albinism type 1 / OCA1-TS / TS OCA type 1", "ORPHA:352709": "CLN13 disease / Kufs type B disease / Neuronal ceroid lipofuscinosis type 13", "ORPHA:352712": "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome / FILS syndrome", "ORPHA:352718": "Progressive retinal dystrophy due to retinol transport defect / Retinol dystrophy-iris coloboma-comedogenic acne syndrome", "ORPHA:352687": "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies / Lissencephaly type 2 with muscular and ocular involvement / MDDGA", "ORPHA:352694": "OBSOLETE: Cobblestone lissencephaly type A / OBSOLETE: Lissencephaly type 2A", "ORPHA:352699": "OBSOLETE: Cobblestone lissencephaly type C / OBSOLETE: Lissencephaly type 2C", "ORPHA:352704": "OBSOLETE: Cobblestone lissencephaly type B / OBSOLETE: Lissencephaly type 2B", "ORPHA:352665": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion / 9q21.3 microdeletion syndrome / Del(9)(q21.3)", "ORPHA:352670": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F / CMTDIF", "ORPHA:353253": "Burning mouth syndrome / BMS / Oral dysesthesia / Orodynia / Stomatodynia / Stomatopyrosis", "ORPHA:353225": "NON RARE IN EUROPE: Primary adult open-angle glaucoma / NON RARE IN EUROPE: POAG", "ORPHA:353220": "Familial primary localized cutaneous amyloidosis / FPLCA", "ORPHA:353217": "Epileptic encephalopathy with global cerebral demyelination / AGC1 deficiency / Mitochondrial aspartate-glutamate carrier 1 deficiency", "ORPHA:352763": "Scleredema / Buschke scleredema", "ORPHA:352745": "Oculocutaneous albinism type 7 / OCA7", "ORPHA:352740": "Ocular albinism with congenital sensorineural deafness / Ocular albinism with congenital sensorineural hearing loss / Waardenburg syndrome type 2 with ocular albinism", "ORPHA:353356": "Vasoproliferative tumor of the retina / Retinal vasoproliferative tumor / VPTR / Vasoproliferative tumor of the ocular fundus", "ORPHA:353344": "Idiopathic macular telangiectasia type 1 / Aneurysmal telangiectasia / Visible and exudative idiopathic juxtafoveolar retinal telangiectasis", "ORPHA:353351": "Idiopathic macular telangiectasia type 3 / Occlusive idiopathic juxtafoveolar retinal telangiectasis", "ORPHA:353334": "Congenital retinal arteriovenous communication / Congenital arteriovenous anastomoses of the retina / Congenital arteriovenous communication of the retina / Congenital retinal arteriovenous anastomoses", "ORPHA:353320": "Pyruvate carboxylase deficiency, benign type / Pyruvate carboxylase deficiency type C", "ORPHA:353308": "Pyruvate carboxylase deficiency, infantile type / Pyruvate carboxylase deficiency type A", "ORPHA:353314": "Pyruvate carboxylase deficiency, severe neonatal type / Pyruvate carboxylase deficiency type B", "ORPHA:352298": "OBSOLETE: Genetic muscular channelopathy", "ORPHA:352301": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis", "ORPHA:352333": "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome / Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome / ELOVL4-related neuro ichthyosis", "ORPHA:352328": "MEGDEL syndrome / 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome / 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome", "ORPHA:352312": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement", "ORPHA:352309": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement", "ORPHA:352306": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement", "ORPHA:352563": "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency / COXPD16 / Combined oxidative phosphorylation defect type 16", "ORPHA:352540": "Oncogenic osteomalacia / Oncogenic hypophosphatemic osteomalacia / TIO / Tumor-induced osteomalacia", "ORPHA:352482": "OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement / OBSOLETE: Autosomal recessive LGMD with cerebellar involvement", "ORPHA:352456": "Mitochondrial DNA maintenance syndrome / mtDNA maintenance syndrome", "ORPHA:352497": "OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency", "ORPHA:352504": "OBSOLETE: Levodopa-unresponsive juvenile parkinsonism / OBSOLETE: L-DOPA-unresponsive juvenile parkinsonism", "ORPHA:352487": "Digital anomalies-intellectual disability-short stature syndrome", "ORPHA:294951": "Congenital joint dislocations", "ORPHA:294949": "Non-syndromic joint formation defects", "ORPHA:294955": "Syndrome with limb reduction defects", "ORPHA:294953": "Non-syndromic limb overgrowth", "ORPHA:294942": "OBSOLETE: Postaxial polydactyly of fingers / OBSOLETE: Postaxial polydactyly of hand", "ORPHA:294939": "OBSOLETE: Preaxial polydactyly of fingers / OBSOLETE: Preaxial polydactyly of hand", "ORPHA:294947": "Congenital deformities of fingers", "ORPHA:294944": "Congenital deformities of limbs", "ORPHA:294931": "OBSOLETE: Adactyly of hand / OBSOLETE: Fingers absent", "ORPHA:294937": "OBSOLETE: Brachydactyly", "ORPHA:294935": "OBSOLETE: Split hand or/and split foot malformation", "ORPHA:294925": "Non-syndromic amelia", "ORPHA:294929": "OBSOLETE: Terminal limb defects / OBSOLETE: Terminal meromelia", "ORPHA:294927": "Non-syndromic intercalary limb defects / Non-syndromic intercalary meromelia", "ORPHA:294415": "Renal-hepatic-pancreatic dysplasia / Ivemark II syndrome / Renohepaticopancreatic dysplasia", "ORPHA:294422": "Chronic intestinal failure / CIF", "ORPHA:294049": "Reunion Island Larsen-like syndrome / Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome", "ORPHA:294057": "Rare nevus", "ORPHA:294060": "Multiple pterygium syndrome", "ORPHA:294016": "Microcephaly-capillary malformation syndrome / MIC-CAP syndrome / MIC-CM syndrome / Microcephaly-cutaneous capillary malformation syndrome", "ORPHA:294023": "Neonatal inflammatory skin and bowel disease", "ORPHA:294026": "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication / Syndactyly-nystagmus syndrome due to dup(2)(q31.1) / Syndactyly-nystagmus syndrome due to trisomy 2q31.1", "ORPHA:293958": "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome / HPPD / Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome", "ORPHA:293955": "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency", "ORPHA:293936": "EDICT syndrome / Autosomal dominant keratoconus with early-onset anterior polar cataracts / Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome / Familial keratoconus with cataract / KTCNCT", "ORPHA:293925": "Lethal occipital encephalocele-skeletal dysplasia syndrome", "ORPHA:293910": "Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant / Familial isolated arrhytmogenic ventricular dysplasia, right dominant form", "ORPHA:293899": "Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant / Familial isolated arrhythmogenic ventricular dysplasia, biventricular form", "ORPHA:293888": "Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant / ALVC / Arrhythmogenic cardiomyopathy dominant-left variant / Arrhythmogenic cardiomyopathy with left ventricular involvement / Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form", "ORPHA:293864": "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome", "ORPHA:293848": "Frontotemporal dementia, right temporal atrophy variant / RTLA / rvFTD", "ORPHA:293838": "Fatal infantile encephalopathy-pulmonary hypertension syndrome", "ORPHA:293830": "Constitutional dyserythropoietic anemia", "ORPHA:293822": "MITF-related melanoma and renal cell carcinoma predisposition syndrome", "ORPHA:293825": "Congenital dyserythropoietic anemia type IV / CDA IV / CDA due to KLF1 mutation / CDA type 4 / CDA type IV / CDAN4 / Congenital dyserythropoietic anemia due to KLF1 mutation / Congenital dyserythropoietic anemia type 4", "ORPHA:293812": "Fixed drug eruption", "ORPHA:293815": "Toxic dermatosis", "ORPHA:293642": "Blepharophimosis-intellectual disability syndrome / BMRS", "ORPHA:293633": "PYCR1-related De Barsy syndrome / PYCR1 deficiency / Pyrroline-5-carboxylate reductase 1 deficiency", "ORPHA:295075": "OBSOLETE: Ulnar hemimelia, unilateral / OBSOLETE: Ulnar longitudinal meromelia, unilateral", "ORPHA:295073": "OBSOLETE: Ulnar hemimelia, bilateral / OBSOLETE: Ulnar longitudinal meromelia, bilateral", "ORPHA:295079": "OBSOLETE: Tibial hemimelia, bilateral / OBSOLETE: Tibial longitudinal meromelia, bilateral", "ORPHA:295077": "OBSOLETE: Tibial hemimelia, unilateral / OBSOLETE: Tibial longitudinal meromelia, unilateral", "ORPHA:295083": "OBSOLETE: Fibular hemimelia, bilateral / OBSOLETE: Fibular longitudinal meromelia, bilateral", "ORPHA:295081": "OBSOLETE: Fibular hemimelia, unilateral / OBSOLETE: Fibular longitudinal meromelia, unilateral", "ORPHA:295087": "OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral / OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral", "ORPHA:295085": "OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral / OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral", "ORPHA:295059": "OBSOLETE: Amelia of lower limb, bilateral", "ORPHA:295057": "OBSOLETE: Amelia of lower limb, unilateral", "ORPHA:295063": "OBSOLETE: Humeral agenesis/hypoplasia, bilateral / OBSOLETE: Humeral intercalary meromelia, bilateral", "ORPHA:295061": "OBSOLETE: Humeral agenesis/hypoplasia, unilateral / OBSOLETE: Humeral intercalary meromelia, unilateral", "ORPHA:295067": "OBSOLETE: Femoral agenesis/hypoplasia, bilateral / OBSOLETE: Femoral intercalary meromelia, bilateral", "ORPHA:295065": "OBSOLETE: Femoral agenesis/hypoplasia, unilateral / OBSOLETE: Femoral intercalary meromelia, unilateral", "ORPHA:295071": "OBSOLETE: Radial hemimelia, bilateral / OBSOLETE: Radial longitidinal meromelia, bilateral", "ORPHA:295069": "OBSOLETE: Radial hemimelia, unilateral / OBSOLETE: Radial longitidinal meromelia, unilateral", "ORPHA:295038": "OBSOLETE: Patella aplasia/hypoplasia, unilateral", "ORPHA:295041": "OBSOLETE: Patella aplasia/hypoplasia, bilateral", "ORPHA:295044": "Macrodactyly of fingers / Macrodactyly of hand", "ORPHA:295047": "Macrodactyly of toes / Macrodactyly of foot", "ORPHA:295049": "Upper limb hypertrophy", "ORPHA:295051": "Lower limb hypertrophy", "ORPHA:295053": "OBSOLETE: Amelia of upper limb, unilateral", "ORPHA:295055": "OBSOLETE: Amelia of upper limb, bilateral", "ORPHA:295022": "Congenital pseudoarthrosis of the fibula / Congenital pseudarthrosis of the fibula", "ORPHA:295024": "Congenital pseudoarthrosis of the radius / Congenital pseudarthrosis of the radius", "ORPHA:295026": "Congenital pseudoarthrosis of the ulna / Congenital pseudarthrosis of the ulna", "ORPHA:295028": "Isolated tibio-fibular synostosis / Isolated congenital tibiofibular fusion", "ORPHA:295030": "True congenital shoulder dislocation", "ORPHA:295032": "Isolated congenital radial head dislocation / Isolated congenital elbow dislocation", "ORPHA:295034": "Congenital knee dislocation", "ORPHA:295012": "Syndactyly type 6 / Mitten hand / Syndactyly, mitten type / Unilateral syndactyly of digits 2-5", "ORPHA:295010": "OBSOLETE: Central polydactyly of toes / OBSOLETE: Central polydactyly of foot / OBSOLETE: Mesoaxial polydactyly of toes / OBSOLETE: Mirror foot", "ORPHA:295008": "OBSOLETE: Postaxial polydactyly of toes / OBSOLETE: Postaxial polydactyly of foot", "ORPHA:295006": "OBSOLETE: Preaxial polydactyly of toes / OBSOLETE: Bifid great toes / OBSOLETE: Bifid halluces / OBSOLETE: Bifid hallux / OBSOLETE: Preaxial polydactyly of foot", "ORPHA:295020": "Congenital pseudoarthrosis of the femur / Congenital pseudarthrosis of the femur", "ORPHA:295018": "Congenital pseudoarthrosis of the tibia / Congenital pseudarthrosis of the tibia", "ORPHA:295016": "Camptodactyly of fingers", "ORPHA:295014": "Familial isolated clinodactyly of fingers", "ORPHA:294996": "OBSOLETE: Brachydactyly of fingers / OBSOLETE: Short fingers", "ORPHA:294994": "OBSOLETE: Split foot", "ORPHA:294992": "OBSOLETE: Split hand / OBSOLETE: Ectrodactyly of hand", "ORPHA:294990": "OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb / OBSOLETE: Digits 2-5 hypodactyly / OBSOLETE: Digits 2-5 oligodactyly", "ORPHA:295004": "Central polydactyly / Mesoaxial polydactyly", "ORPHA:295002": "Isolated hyperphalangy / Isolated congenital supernumerary phalanges / Supernumerary phalanx", "ORPHA:295000": "Amniotic band syndrome / ABS / Amniotic band sequence / Congenital constriction ring syndrome / Congenital ring constrictions / Constriction band syndrome / Streeter dysplasia", "ORPHA:294998": "OBSOLETE: Brachydactyly of toes / OBSOLETE: Short toes", "ORPHA:294977": "Isolated absence of thigh and lower leg with foot present / Isolated congenital femoro-tibio-fibular intercalary transverse meromelia", "ORPHA:294979": "Isolated absence of both forearm and hand / Isolated congenital radio-ulnar terminal transverse meromelia", "ORPHA:294973": "Isolated humeral agenesis/hypoplasia / Isolated congenital absence of humerus / Isolated congenital humeral deficiency / Isolated congenital hypoplasia of humerus / Isolated humeral intercalary meromelia", "ORPHA:294975": "Isolated absence of upper arm and forearm with hand present / Isolated congenital humero-radio-ulnar intercalary transverse meromelia", "ORPHA:294986": "Isolated apodia / Isolated congenital absence of foot", "ORPHA:294988": "Isolated hypoplasia of thumb / Isolated congenital absence/hypoplasia of thumb / Isolated congenital thumb hypodactyly / Isolated congenital thumb oligodactyly", "ORPHA:294981": "Isolated absence of both lower leg and foot / Isolated congenital tibiofibular terminal transverse meromelia", "ORPHA:294983": "Isolated acheiria / Isolated congenital absence of hand", "ORPHA:294961": "OBSOLETE: Syndromes with synostoses of limbs", "ORPHA:294963": "Popliteal pterygium syndrome", "ORPHA:294957": "Dysostosis with combined reduction defects of upper and lower limbs", "ORPHA:294959": "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy", "ORPHA:294969": "Isolated amelia of lower limb / Isolated congenital absence of lower limb", "ORPHA:294971": "Isolated tetra-amelia / Isolated total amelia", "ORPHA:294965": "Lethal congenital contracture syndrome / LCCS", "ORPHA:294967": "Isolated amelia of upper limb / Isolated congenital absence of upper limb", "ORPHA:290842": "Autoinflammatory syndrome with skin involvement", "ORPHA:290849": "Rare head and neck tumor", "ORPHA:289891": "Hypermethioninemia due to glycine N-methyltransferase deficiency / Glycine N-methyltransferase deficiency / Hypermethioninemia due to GNMT deficiency", "ORPHA:289902": "3-methylglutaconic aciduria", "ORPHA:289899": "Organic aciduria", "ORPHA:289866": "Disorder of proline metabolism", "ORPHA:289863": "Atypical glycine encephalopathy / Atypical NKA / Atypical non-ketotic hyperglycinemia", "ORPHA:289877": "Transient hyperammonemia of the newborn", "ORPHA:289869": "Disorder of ornithine metabolism", "ORPHA:290839": "Autoinflammatory syndrome with immune deficiency", "ORPHA:290836": "Systemic disease with skin involvement", "ORPHA:289682": "Lymphoepithelial-like carcinoma", "ORPHA:289685": "Myopericytoma", "ORPHA:289661": "Epstein-Barr virus-positive diffuse large B-cell lymphoma / EBV-positive DLBCL / Epstein-Barr virus-positive diffuse large B-cell lymphoma not otherwise specified / Epstein-Barr virus-positive diffuse large B-cell lymphoma, NOS", "ORPHA:289666": "Plasmablastic lymphoma / PBL", "ORPHA:289651": "Epstein-Barr Virus-associated carcinoma / EBV-associated carcinoma", "ORPHA:289656": "Epstein-Barr Virus-associated mesenchymal tumor / EBV-associated mesenchymal tumor", "ORPHA:289638": "Epstein-Barr Virus-related tumor / EBV-related tumor", "ORPHA:289644": "Epstein-Barr virus-associated malignant lymphoproliferative disorder / EBV-associated lymphoproliferative disorder", "ORPHA:289857": "Neonatal glycine encephalopathy / Classic glycine encephalopathy / Neonatal NKH / Neonatal non-ketotic hyperglycinemia", "ORPHA:289860": "Infantile glycine encephalopathy / Infantile NKH / Infantile non-ketotic hyperglycinemia", "ORPHA:289846": "Glutathione synthetase deficiency with 5-oxoprolinuria", "ORPHA:289849": "Glutathione synthetase deficiency without 5-oxoprolinuria", "ORPHA:289832": "Disorder of lysine and hydroxylysine metabolism", "ORPHA:289841": "Disorder of glutamine metabolism", "ORPHA:289825": "Late-onset primary lymphedema without systemic or visceral involvement", "ORPHA:289829": "Disorder of tryptophan metabolism", "ORPHA:289573": "Multiple mitochondrial dysfunctions syndrome", "ORPHA:289553": "Dysmorphism-conductive hearing loss-heart defect syndrome", "ORPHA:289539": "BAP1-related tumor predisposition syndrome / Tumor susceptibility linked to germline BAP1 mutations", "ORPHA:289635": "Rare virus associated tumor", "ORPHA:289586": "Exfoliative ichthyosis / Autosomal recessive exfoliative ichthyosis / Ichthyosis exfoliativa", "ORPHA:293355": "Methylmalonic acidemia without homocystinuria / Methylmalonic aciduria without homocystinuria", "ORPHA:293375": "Grayson-Wilbrandt corneal dystrophy / GWCD", "ORPHA:293462": "Pre-Descemet corneal dystrophy / PDCD", "ORPHA:2689": "Intermittent neutropenia", "ORPHA:2687": "Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome", "ORPHA:336": "NON RARE IN EUROPE: Fibromuscular dysplasia of arteries", "ORPHA:293150": "Familial clubfoot due to PITX1 point mutation / Hereditary clubfoot due to PITX1 point mutation", "ORPHA:741": "Familial mitral valve prolapse", "ORPHA:293144": "Familial clubfoot due to 5q31 microdeletion / Hereditary clubfoot due to 5q31 microdeletion", "ORPHA:293165": "Skin fragility-woolly hair-palmoplantar keratoderma syndrome / Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome", "ORPHA:2207": "Familial primary hyperparathyroidism", "ORPHA:293173": "Acute generalized exanthematous pustulosis / AGEP / Pustular drug eruption / Toxic pustuloderma", "ORPHA:293199": "Pleomorphic rhabdomyosarcoma", "ORPHA:293190": "OBSOLETE: Pleomorphic undifferentiated sarcoma", "ORPHA:293202": "Epithelioid sarcoma", "ORPHA:293284": "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria / BH4-responsive HPA/PKU / BH4-responsive hyperphenylalaninemia/phenylketonuria / Tetrahydrobiopterin-responsive HPA/PKU", "ORPHA:293208": "Celiac artery compression syndrome / Dunbar syndrome / MALS / Median arcuate ligament syndrome", "ORPHA:2459": "Mansonelliasis / Mansonellosis", "ORPHA:2404": "Loiasis", "ORPHA:3096": "Reye syndrome", "ORPHA:1929": "Rasmussen subacute encephalitis / Rasmussen syndrome", "ORPHA:1183": "Opsoclonus-myoclonus syndrome / Ataxo-opso-myoclonus syndrome / Dancing eye syndrome / Dancing eye-dancing feet syndrome / Kinsbourne syndrome / OMA syndrome / OMS / Opsoclonus-myoclonus-ataxia syndrome / POMA syndrome / Paraneoplastic opsoclonus-myoclonus / Paraneoplastic opsoclonus-myoclonus-ataxia syndrome", "ORPHA:176": "Non-rhizomelic chondrodysplasia punctata", "ORPHA:2035": "Lymphatic filariasis", "ORPHA:80": "Antiphospholipid syndrome / APLS / Antiphospholipid antibody syndrome / Classic APLS / Classic antiphospholipid syndrome / Hughes syndrome", "ORPHA:285657": "Disorder of folate metabolism and transport", "ORPHA:284786": "Qualitative or quantitative defects of troponin", "ORPHA:284790": "Qualitative or quantitative defects of tropomyosin", "ORPHA:284804": "Ocular albinism", "ORPHA:284448": "CLIPPERS / Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids", "ORPHA:284454": "Acute zonal occult outer retinopathy / AZOOR", "ORPHA:284460": "Acute annular outer retinopathy / AAOR", "ORPHA:284414": "Glycerol kinase deficiency, adult form", "ORPHA:284435": "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency / GSD due to lactate dehydrogenase H-subunit deficiency / Glycogenosis due to lactate dehydrogenase H-subunit deficiency / LDH-H subunit deficiency / Lactate dehydrogenase B deficiency", "ORPHA:285014": "Rare disease with thoracic aortic aneurysm and aortic dissection", "ORPHA:284993": "Marfan syndrome and Marfan-related disorders", "ORPHA:284973": "Marfan syndrome type 2 / MFS2", "ORPHA:284963": "Marfan syndrome type 1 / MFS1", "ORPHA:284814": "Disorder of phenylalanine metabolism", "ORPHA:284811": "Syndromic oculocutaneous albinism", "ORPHA:284818": "Disorder of tyrosine metabolism", "ORPHA:289362": "Non-central nervous system-localized embryonal carcinoma / Non-CNS-localized embryonal carcinoma", "ORPHA:289365": "Familial vesicoureteral reflux / Familial VUR", "ORPHA:289347": "Infective dermatitis associated with HTLV-1 / IDH / Infective dermatitis associated with human T-lymphotropic virus type 1 / Infective dermatitis associated with human T-lymphotropic virus type I", "ORPHA:289356": "Primary non-gestational choriocarcinoma of ovary / NGCO / Primary non-gestational ovarian choriocarcinoma", "ORPHA:289377": "Early-onset myopathy with fatal cardiomyopathy / EOMFC / Salih myopathy", "ORPHA:289380": "Myosclerosis / Congenital myosclerosis, Löwenthal type", "ORPHA:289290": "Hypermethioninemia encephalopathy due to adenosine kinase deficiency / ADK hypermethioninemia / Hypermethioninemia encephalopathy due to ADK deficiency", "ORPHA:289326": "Tropical spastic paraparesis / HAM/TSP / HTLV-1-associated myelopathy/tropical spastic paraparesis / Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis / Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis", "ORPHA:289307": "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency / Developmental delay due to ALDH6A1 deficiency / Developmental delay due to MMSDH deficiency", "ORPHA:289499": "Congenital cataract microcornea with corneal opacity / CCMCO", "ORPHA:289494": "4H leukodystrophy / POLR-related leukodystrophy", "ORPHA:289527": "OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency / OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency / OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency / OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency", "ORPHA:289513": "12q15q21.1 microdeletion syndrome / Del(12)(q15)(q21.1) / Deletion 12q15q21.1 / Monosomy 12q15q21.1", "ORPHA:289465": "Isolated congenital adermatoglyphia / Congenital absence of fingerprints / Immigration delay disease", "ORPHA:289395": "NON RARE IN EUROPE: Secondary Sjögren syndrome / NON RARE IN EUROPE: Secondary Sjögren-Gougerot syndrome", "ORPHA:289385": "Malignancy diagnosed during pregnancy / Cancer diagnosed during pregnancy", "ORPHA:289478": "PASH syndrome / Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome", "ORPHA:289103": "Hypocalcemic rickets", "ORPHA:289098": "Disorders of vitamin D metabolism", "ORPHA:280926": "Systemic diseases with anterior uveitis", "ORPHA:280917": "Idiopathic posterior uveitis", "ORPHA:280898": "Panuveitis / Total uveitis", "ORPHA:280892": "Posterior uveitis / Choroiditis", "ORPHA:280886": "Anterior uveitis / Iridocyclitis", "ORPHA:281103": "Keratinopathic ichthyosis / KPI", "ORPHA:281097": "Autosomal recessive congenital ichthyosis / ARCI", "ORPHA:281085": "Inherited ichthyosis syndromic form", "ORPHA:281082": "Inherited non-syndromic ichthyosis", "ORPHA:280933": "Systemic diseases with panuveitis", "ORPHA:280930": "Systemic diseases with posterior uveitis", "ORPHA:281210": "X-linked ichthyosis syndrome", "ORPHA:281217": "Autosomal ichthyosis syndrome", "ORPHA:281190": "Congenital reticular ichthyosiform erythroderma / CRIE / IWC / Ichthyosis variegata / Ichthyosis with confetti", "ORPHA:281139": "Annular epidermolytic ichthyosis / AEI", "ORPHA:281244": "Autosomal ichthyosis syndrome with other associated signs", "ORPHA:281238": "Autosomal ichthyosis syndrome with prominent neurologic signs", "ORPHA:281241": "Autosomal ichthyosis syndrome with fatal disease course", "ORPHA:281222": "Autosomal ichthyosis syndrome with prominent hair abnormalities", "ORPHA:281234": "OBSOLETE: Congenital ichthyosis with trichothiodystrophy", "ORPHA:280628": "Familial progressive hyper- and hypopigmentation / FPHH", "ORPHA:280615": "Hemoglobinopathy Toms River / Transient neonatal cyanosis and anemia due to Toms River Hemoglobin", "ORPHA:280598": "Hereditary sensorimotor neuropathy with hyperelastic skin", "ORPHA:280620": "Progressive myoclonic epilepsy type 6 / EPM6 / GOSR2-related progressive myoclonus ataxia / North Sea progressive myoclonus epilepsy / PME type 6 / Progressive myoclonus epilepsy type 6", "ORPHA:280663": "Hermansky-Pudlak syndrome type 9 / HPS9", "ORPHA:280671": "Megaconial congenital muscular dystrophy / Congenital megaconial myopathy / Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect / Congenital muscular dystrophy with mitochondrial structural abnormalities", "ORPHA:280640": "Occipital pachygyria and polymicrogyria / Occipital MCD / Occipital malformations of cortical development", "ORPHA:280654": "Autosomal recessive nail dysplasia", "ORPHA:280802": "Intralobar congenital pulmonary sequestration / Congenital intrapulmonary sequestration / Intralobar congenital bronchopulmonary sequestration", "ORPHA:280774": "Generalized essential telangiectasia / GET", "ORPHA:280840": "Congenital pulmonary airway malformation type 2 / CCAM type 2 / CPAM type 2 / Congenital cystic adenomatoid malformation of the lung type 2 / Congenital cystic adenomatous malformation of the lung type 2 / Congenital cystic disease of the lung type 2", "ORPHA:280847": "Congenital pulmonary airway malformation type 3 / CCAM type 3 / CPAM type 3 / Congenital cystic adenomatoid malformation of the lung type 3 / Congenital cystic adenomatous malformation of the lung type 3 / Congenital cystic disease of the lung type 3", "ORPHA:280854": "Congenital pulmonary airway malformation type 4 / CPAM type 4 / Congenital cystic adenomatoid malformation of the lung type 4 / Congenital cystic adenomatous malformation of the lung type 4", "ORPHA:280811": "Extralobar congenital pulmonary sequestration / Congenital extrapulmonary sequestration / Extralobar congenital bronchopulmonary sequestration", "ORPHA:280821": "Communicating congenital bronchopulmonary-foregut malformation", "ORPHA:280827": "Congenital pulmonary airway malformation type 0 / CPAM type 0 / Congenital cystic adenomatoid malformation of the lung type 0 / Congenital cystic adenomatous malformation of the lung type 0", "ORPHA:280832": "Congenital pulmonary airway malformation type 1 / CCAM type 1 / CPAM type 1 / Congenital cystic adenomatoid malformation of the lung type 1 / Congenital cystic adenomatous malformation of the lung type 1 / Congenital cystic disease of the lung type 1", "ORPHA:284149": "Craniosynostosis-dental anomalies / Kreiborg-Pakistani syndrome", "ORPHA:284139": "Larsen-like syndrome, B3GAT3 type / Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "ORPHA:284169": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion / 10p12p11 microdeletion syndrome / Del(10)(p11.21p12.31) / Deletion 10p11.21p12.31 / Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion / Monosomy 10p11.21p12.31", "ORPHA:284247": "Familial retinal arterial macroaneurysm / FRAM / Retinal arterial macroaneurysm and supravalvular pulmonic stenosis", "ORPHA:284232": "Autosomal dominant Charcot-Marie-Tooth disease type 2O / CMT2O", "ORPHA:284264": "IgG4-related disease / IgG4-related sclerosing disease / Immunoglobulin G4-related sclerosing disease", "ORPHA:284343": "DICER1 tumor-predisposition syndrome / PPB familial tumor and dysplasia syndrome / PPBFTDS / Pleuropulmonary blastoma familial tumor and dysplasia syndrome", "ORPHA:284385": "Familial intrahepatic cholestasis", "ORPHA:284388": "Reversible cerebral vasoconstriction syndrome / RCVS", "ORPHA:284362": "Fetal lung interstitial tumor / FLIT / Immature interstitial mesenchymal tumor", "ORPHA:284408": "OBSOLETE: Glycerol kinase deficiency, infantile form", "ORPHA:284411": "Glycerol kinase deficiency, juvenile form", "ORPHA:284395": "Well-differentiated fetal adenocarcinoma of the lung / WDFA", "ORPHA:282124": "Partial deletion of chromosome 12 syndrome / Partial monosomy of chromosome 12", "ORPHA:282196": "Autoimmune polyendocrinopathy / APS / Autoimmune polyglandular syndrome", "ORPHA:284130": "NON RARE IN EUROPE: Rheumatoid arthritis", "ORPHA:309848": "Disorder of magnesium transport", "ORPHA:309845": "Disorder of zinc metabolism and transport", "ORPHA:309842": "Disorder of iron metabolism and transport", "ORPHA:309839": "Disorder of copper metabolism", "ORPHA:310050": "Acquired immunodeficiency", "ORPHA:309851": "Disorder of manganese transport", "ORPHA:309824": "Disorder of metabolite absorption and transport", "ORPHA:309819": "Disorder of pterin metabolism", "ORPHA:309816": "Disorder of bilirubin metabolism and excretion", "ORPHA:309813": "Disorder of porphyrin and heme metabolism", "ORPHA:309836": "Disorder of mineral absorption and transport", "ORPHA:309833": "Disorder of other vitamins and cofactors metabolism and transport", "ORPHA:309830": "Disorder of catecholamine synthesis", "ORPHA:309827": "Disorder of vitamin and non-protein cofactor absorption and transport", "ORPHA:309568": "Defect in conserved oligomeric Golgi complex / Defect in COG complex", "ORPHA:309778": "Defect in V-ATPase", "ORPHA:309515": "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation / Disorder of glycosphingolipid and GPI-anchored proteins glycosylation", "ORPHA:309526": "Disorder of multiple glycosylation", "ORPHA:309803": "Rhizomelic chondrodysplasia punctata type 3", "ORPHA:309810": "Disorder of peroxisomal alpha-, beta- and omega-oxidation", "ORPHA:309789": "Rhizomelic chondrodysplasia punctata type 1", "ORPHA:309796": "Rhizomelic chondrodysplasia punctata type 2", "ORPHA:309447": "Disorder of protein O-glycosylation", "ORPHA:309450": "Disorder of O-xylosylglycan synthesis", "ORPHA:309340": "Disorder of lysosomal-related organelles", "ORPHA:309347": "Disorder of protein N-glycosylation", "ORPHA:309469": "Disorder of O-mannosylglycan synthesis", "ORPHA:309505": "Disorder of fucoglycosan synthesis", "ORPHA:309458": "Disorder of O-N-acetylgalactosaminylglycan synthesis", "ORPHA:309463": "Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis", "ORPHA:314029": "High bone mass osteogenesis imperfecta / High bone mass OI", "ORPHA:314022": "Gastric adenocarcinoma and proximal polyposis of the stomach / Familial fundic gland polyposis with gastric cancer / GAPPS", "ORPHA:314017": "Idiopathic linear interstitial keratitis", "ORPHA:314002": "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome / Dinno syndrome", "ORPHA:313936": "PENS syndrome / Papular epidermal nevi with skyline basal cell layers syndrome", "ORPHA:313920": "Epstein-Barr virus-associated gastric carcinoma / EBV-associated gastric carcinoma / EBVaGC", "ORPHA:313884": "12p12.1 microdeletion syndrome / Del(12)(p12.1) / Monosomy 12p12.1", "ORPHA:313850": "Infantile cerebellar-retinal degeneration", "ORPHA:313846": "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome", "ORPHA:313838": "Coats plus syndrome / CRMCC / Cerebroretinal microangiopathy with calcifications and cysts", "ORPHA:313800": "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome / Optic nerve edema-splenomegaly syndrome / ROSAH syndrome", "ORPHA:313808": "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia / ALSP / Autosomal dominant leukoencephalopathy with neuroaxonal spheroids / FPSG / Familial dementia, Neumann type / Familial progressive subcortical gliosis / GPSC / HDLS / Hereditary diffuse leukoencephalopathy with spheroids / POLD / Pigmentary orthochromatic leukodystrophy / Subcortical gliosis of Neumann", "ORPHA:313795": "Jawad syndrome", "ORPHA:314597": "Chudley-McCullough syndrome", "ORPHA:314613": "Growing teratoma syndrome", "ORPHA:314572": "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome", "ORPHA:314588": "Distal triplication 15q syndrome / Distal tetrasomy 15q / Tetrasomy 15(q25-qter) / Tetrasomy 15q26 / Triplication 15q25-qter / Triplication 15q26", "ORPHA:314485": "Young adult-onset distal hereditary motor neuropathy / Autosomal recessive distal spinal muscular atrophy type 5 / Young adult-onset dHMN / dSMA5", "ORPHA:314566": "Primary progressive apraxia of speech / PPAOS", "ORPHA:314555": "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome / Hamamy syndrome", "ORPHA:314466": "Atypical Meigs syndrome / Atypical Demons-Meigs syndrome / Incomplete Meigs syndrome", "ORPHA:314459": "Pseudo-Meigs syndrome / Pseudo-Demons-Meigs syndrome", "ORPHA:314422": "Ameloblastic carcinoma", "ORPHA:314425": "Rare odontogenic tumor", "ORPHA:314432": "Spigelian hernia-cryptorchidism syndrome", "ORPHA:314451": "Meigs syndrome / Demons-Meigs syndrome", "ORPHA:314394": "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome / SOFT syndrome", "ORPHA:314399": "Autosomal dominant aplasia and myelodysplasia / Autosomal dominant aplastic anemia and myelodysplasia", "ORPHA:314419": "Ameloblastoma", "ORPHA:314373": "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity", "ORPHA:314376": "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency / Meconium ileus due to guanylate cyclase 2C deficiency", "ORPHA:314381": "Hereditary sensory and autonomic neuropathy type 6 / Familial dysautonomia with contractures / HSAN6 / Hereditary sensory and autonomic neuropathy type VI", "ORPHA:314041": "Marfanoid habitus-inguinal hernia-advanced bone age syndrome", "ORPHA:314051": "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome / COXPD12 / Combined oxidative phosphorylation defect type 12 / LTBL", "ORPHA:306756": "Epilepsy and/or ataxia with myoclonus as a major feature", "ORPHA:306759": "Non progressive epilepsy and/or ataxia with myoclonus as a major feature", "ORPHA:306750": "Primary myoclonus", "ORPHA:306753": "Rare disease with myoclonus as a major feature", "ORPHA:306768": "Rare paroxysmal movement disorder", "ORPHA:306773": "Hyperekplexia", "ORPHA:306762": "OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature", "ORPHA:306765": "Motor stereotypies", "ORPHA:307055": "Rare parkinsonian syndrome due to genetic neurodegenerative disease", "ORPHA:307058": "Miscellaneous movement disorder due to genetic neurodegenerative disease", "ORPHA:306776": "Sporadic hyperekplexia", "ORPHA:307052": "Rare genetic parkinsonian disorder / Rare genetic hypokinetic movement disorder", "ORPHA:307067": "Rare genetic disease with myoclonus as a major feature", "ORPHA:307141": "Diffuse palmoplantar keratoderma / Diffuse PPK / Diffuse keratosis palmoplantaris / Diffuse palmoplantar hyperkeratosis", "ORPHA:307061": "Rare genetic tremor disorder", "ORPHA:307064": "Rare genetic myoclonus", "ORPHA:306679": "Rare parkinsonian syndrome due to intoxication", "ORPHA:306708": "Frontotemporal neurodegeneration with movement disorder", "ORPHA:306695": "Miscellaneous movement disorder due to neurodegenerative disease", "ORPHA:306727": "Postinfectious autoimmune disease with chorea", "ORPHA:306719": "Neurodegenerative disease with chorea", "ORPHA:306715": "Rare choreic movement disorder", "ORPHA:306712": "Rare tremor disorder", "ORPHA:306747": "Rare myoclonus", "ORPHA:308166": "Erythrokeratoderma variabilis progressiva", "ORPHA:308380": "Methylcobalamin deficiency type cblDv1 / Functional methionine synthase deficiency type cblDv1", "ORPHA:308386": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A / Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A / MOCOD type A", "ORPHA:308393": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B / Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B / MOCOD type B", "ORPHA:308400": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C / Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C / MOCOD type C", "ORPHA:308407": "Disorder of beta and omega amino acid metabolism", "ORPHA:308410": "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency", "ORPHA:308425": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency / MCEE deficiency / Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency / Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency / Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency", "ORPHA:307711": "Disease with diffuse palmoplantar keratoderma as a major feature / Disease with diffuse palmoplantar hyperkeratosis as a major feature", "ORPHA:307148": "Isolated diffuse palmoplantar keratoderma / Isolated diffuse PPK / Isolated diffuse keratosis palmoplantaris / Isolated diffuse palmoplantar hyperkeratosis", "ORPHA:307766": "Curly hair-acral keratoderma-caries syndrome / CHAC syndrome / CHACS", "ORPHA:307804": "Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature / Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature", "ORPHA:307773": "Autosomal dominant diffuse mutilating palmoplantar keratoderma / Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis", "ORPHA:307846": "Isolated focal palmoplantar keratoderma / Isolated focal PPK / Isolated focal keratosis palmoplantaris / Isolated focal palmoplantar hyperkeratosis", "ORPHA:307837": "Focal palmoplantar keratoderma / Focal PPK / Focal keratosis palmoplantaris / Focal palmoplantar hyperkeratosis", "ORPHA:307936": "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome / HOPP syndrome / Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome / Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome / Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome", "ORPHA:307871": "Disease with focal palmoplantar keratoderma as a major feature / Disease with focal palmoplantar hyperkeratosis as a major feature", "ORPHA:307995": "Marginal papular palmoplantar keratoderma / Marginal papular palmoplantar hyperkeratosis", "ORPHA:307967": "Punctate palmoplantar keratoderma / Punctate PPK / Punctate keratosis palmoplantaris / Punctate palmoplantar hyperkeratosis", "ORPHA:308023": "Disease with punctate palmoplantar keratoderma as a major feature / Disease with punctate palmoplantar hyperkeratosis as a major feature", "ORPHA:308013": "Focal acral hyperkeratosis / PPKP3 without elastoidosis / PPPK3 without elastoidosis / Punctate palmoplantar hyperkeratosis type 3 without elastoidosis / Punctate palmoplantar keratoderma type 3 without elastoidosis", "ORPHA:308041": "Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature / Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature", "ORPHA:308031": "Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature / Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature", "ORPHA:309001": "Disorder of carbohydrate absorption and transport", "ORPHA:309005": "Disorder of lipid metabolism", "ORPHA:308993": "Glycerol kinase deficiency", "ORPHA:308998": "Disorder of glyoxylate metabolism", "ORPHA:308698": "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form / GBE deficiency, childhood neuromuscular form / GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form / GSD type 4, childhood neuromuscular form / GSDIV, childhood neuromuscular form / Glycogen storage disease type 4, childhood neuromuscular form / Glycogen storage disease type IV, childhood neuromuscular form / Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form / Glycogenosis type 4, childhood neuromuscular form / Glycogenosis type IV, childhood neuromuscular form", "ORPHA:308712": "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form / GBE deficiency, adult neuromuscular form / GSD due to glycogen branching enzyme deficiency, adult neuromuscular form / GSD type 4, adult neuromuscular form / GSDIV, adult neuromuscular form / Glycogen storage disease type 4, adult neuromuscular form / Glycogen storage disease type IV, adult neuromuscular form / Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form / Glycogenosis type 4, adult neuromuscular form / Glycogenosis type IV, adult neuromuscular form", "ORPHA:308670": "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form / GBE deficiency, congenital neuromuscular form / GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form / GSD type 4, congenital neuromuscular form / GSDIV, congenital neuromuscular form / Glycogen storage disease type 4, congenital neuromuscular form / Glycogen storage disease type IV, congenital neuromuscular form / Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form / Glycogenosis type 4, congenital neuromuscular form / Glycogenosis type IV, congenital neuromuscular form", "ORPHA:308684": "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form / GBE deficiency, childhood combined hepatic and myopathic form / GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form / GSD type 4, childhood combined hepatic and myopathic form / GSDIV, childhood combined hepatic and myopathic form / Glycogen storage disease type 4, childhood combined hepatic and myopathic form / Glycogen storage disease type IV, childhood combined hepatic and myopathic form / Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form / Glycogenosis type 4, childhood combined hepatic and myopathic form / Glycogenosis type IV, childhood combined hepatic and myopathic form", "ORPHA:309111": "Combined pancreatic lipase-colipase deficiency", "ORPHA:309115": "Disorder of fatty acid oxidation and ketogenesis", "ORPHA:309025": "Mevalonate kinase deficiency / MKD", "ORPHA:309028": "Disorder of lipid absorption and transport", "ORPHA:309015": "Familial lipoprotein lipase deficiency / LPL deficiency", "ORPHA:309020": "Familial apolipoprotein C-II deficiency / Familial APOC2 deficiency / Familial apoC-II deficiency", "ORPHA:308487": "Generalized galactose epimerase deficiency / Generalized GALE deficiency / Generalized GALE-D / Generalized UDP-galactose-4-epimerase deficiency / Generalized epimerase deficiency galactosemia / Generalized uridine diphosphate galactose-4-epimerase deficiency", "ORPHA:178": "Chordoma / Notochordal sarcoma", "ORPHA:308473": "Erythrocyte galactose epimerase deficiency / Erythrocyte GALE deficiency / Erythrocyte GALE-D / Erythrocyte UDP-galactose-4-epimerase deficiency / Erythrocyte epimerase deficiency galactosemia / Erythrocyte uridine diphosphate galactose-4-epimerase deficiency", "ORPHA:308467": "Disorder of galactose metabolism", "ORPHA:308463": "Disorder of fructose metabolism", "ORPHA:77": "OBSOLETE: Aniridia", "ORPHA:308459": "Disorder of glycolysis", "ORPHA:308451": "Disorder of neutral amino acid transport", "ORPHA:308448": "Aminoacylase deficiency", "ORPHA:308442": "Vitamin B12-responsive methylmalonic acidemia, type cblDv2 / Vitamin B12-responsive methylmalonic aciduria, type cblDv2", "ORPHA:308655": "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form / GBE deficiency, fatal perinatal neuromuscular form / GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form / GSD type 4, fatal perinatal neuromuscular form / GSDIV, fatal perinatal neuromuscular form / Glycogen storage disease type 4, fatal perinatal neuromuscular form / Glycogen storage disease type IV, fatal perinatal neuromuscular form / Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form / Glycogenosis type 4, fatal perinatal neuromuscular form / Glycogenosis type IV, fatal perinatal neuromuscular form", "ORPHA:308638": "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form / GBE deficiency, non progressive hepatic form / GSD due to glycogen branching enzyme deficiency, non progressive hepatic form / GSD type 4, non progressive hepatic form / GSDIV, non progressive hepatic form / Glycogen storage disease type 4, non progressive hepatic form / Glycogen storage disease type IV, non progressive hepatic form / Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form / Glycogenosis type 4, non progressive hepatic form / Glycogenosis type IV, non progressive hepatic form", "ORPHA:308621": "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form / GBE deficiency, progressive hepatic form / GSD due to glycogen branching enzyme deficiency, progressive hepatic form / GSD type 4, progressive hepatic form / GSDIV, progressive hepatic form / Glycogen storage disease type 4, progressive hepatic form / Glycogen storage disease type IV, progressive hepatic form / Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form / Glycogenosis type 4, progressive hepatic form / Glycogenosis type IV, progressive hepatic form", "ORPHA:308604": "OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset / OBSOLETE: Alpha-1,4-glucosidase acid deficiency, adult onset / OBSOLETE: GSD due to acid maltase deficiency, adult onset / OBSOLETE: GSD type 2, adulte onset / OBSOLETE: Glycogen storage disease type 2, adult onset / OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset / OBSOLETE: Glycogenosis type 2, adult onset / OBSOLETE: Pompe disease, adult onset", "ORPHA:308573": "OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset / OBSOLETE: Alpha-1,4-glucosidase acid deficiency, juvenile onset / OBSOLETE: GSD due to acid maltase deficiency, juvenile onset / OBSOLETE: GSD type 2, juvenile onset / OBSOLETE: Glycogen storage disease type 2, juvenile onset / OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset / OBSOLETE: Glycogenosis type 2, juvenile onset / OBSOLETE: Pompe disease, juvenile onset", "ORPHA:308552": "Glycogen storage disease due to acid maltase deficiency, infantile onset / Alpha-1,4-glucosidase acid deficiency, infantile onset / GSD due to acid maltase deficiency, infantile onset / GSD type 2, infantile onset / GSD type II, infantile onset / Glycogen storage disease type 2, infantile onset / Glycogen storage disease type II, infantile onset / Glycogenosis due to acid maltase deficiency, infantile onset / Glycogenosis type 2, infantile onset / Glycogenosis type II, infantile onset / Pompe disease, infantile onset", "ORPHA:308520": "Glycogen storage disease due to glycogen synthase deficiency / GSD due to glycogen synthase deficiency / Glycogenosis due to glycogen synthase deficiency", "ORPHA:309279": "Glycoproteinosis", "ORPHA:309282": "Alpha-mannosidosis, infantile form / Lysosomal alpha-D-mannosidase deficiency, infantile form", "ORPHA:309288": "Alpha-mannosidosis, adult form / Lysosomal alpha-D-mannosidase deficiency, adult form", "ORPHA:309252": "Atypical Gaucher disease due to saposin C deficiency", "ORPHA:309324": "Free sialic acid storage disease, infantile form / ISSD", "ORPHA:309331": "Intermediate severe Salla disease", "ORPHA:309334": "Salla disease", "ORPHA:309337": "Lysosomal glycogen storage disease", "ORPHA:309294": "Sialidosis", "ORPHA:309297": "Mucopolysaccharidosis type 4A / GALNS deficiency / Galactosamine-6-sulfatase deficiency / MPS4A / MPSIVA / Morquio disease type A / Mucopolysaccharidosis type IVA / N-acetylgalactosamine-6-sulfate sulfatase deficiency", "ORPHA:309310": "Mucopolysaccharidosis type 4B / Beta-D-galactosidase deficiency / MPS4B / MPSIVB / Morquio disease type B / Mucopolysaccharidosis type IVB", "ORPHA:309319": "Disorder of sialic acid metabolism", "ORPHA:309139": "OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA / OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mtDNA", "ORPHA:309136": "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes", "ORPHA:309147": "Hyper-beta-alaninemia / Hyperalaninemia", "ORPHA:309144": "Gangliosidosis", "ORPHA:309127": "3-hydroxyacyl-CoA dehydrogenase deficiency", "ORPHA:309120": "Acyl-CoA dehydrogenase deficiency", "ORPHA:309133": "Metabolic disease due to other fatty acid oxidation disorder", "ORPHA:309130": "Disorder of carnitine cycle and carnitine transport", "ORPHA:309185": "Tay-Sachs disease, juvenile form / Beta-hexosaminidase subunit alpha deficiency, juvenile form / GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form / GM2 gangliosidosis, Tay-Sachs variant, juvenile form / HEXA disorder, juvenile form / Subacute juvenile Tay-Sachs disease", "ORPHA:309178": "Tay-Sachs disease, infantile form / Acute infantile Tay-Sachs disease / Beta-hexosaminidase subunit alpha deficiency, infantile form / GM2 gangliosidosis, Tay-Sachs variant, infantile form / GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form / HEXA disorder, infantile form", "ORPHA:309239": "OBSOLETE: Tay-Sachs disease, B1 variant / OBSOLETE: GM2 gangliosidosis, B1 variant / OBSOLETE: Hexosaminidase A deficiency, B1 variant", "ORPHA:309192": "Tay-Sachs disease, adult form / Beta-hexosaminidase subunit alpha deficiency, adult form / GM2 gangliosidosis, Tay-Sachs variant, adult form / GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form / HEXA disorder, adult form / Late-onset Tay-Sachs disease", "ORPHA:309155": "Sandhoff disease, infantile form / Beta-hexosaminidase subunit beta deficiency, infantile form / GM2 gangliosidosis, Sandhoff variant, infantile form / GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form", "ORPHA:309152": "GM2 gangliosidosis", "ORPHA:309169": "Sandhoff disease, adult form / Beta-hexosaminidase subunit beta deficiency, adult form / GM2 gangliosidosis, Sandhoff variant, adult form / GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form", "ORPHA:309162": "Sandhoff disease, juvenile form / Beta-hexosaminidase subunit beta deficiency, juvenile form / GM2 gangliosidosis, Sandhoff variant, juvenile form / GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form", "ORPHA:300547": "Autosomal recessive infantile hypercalcemia / Familial infantile hypercalcemia with suppressed intact parathyroid hormone", "ORPHA:300552": "Follicular cholangitis and pancreatitis / Follicular pancreatocholangitis", "ORPHA:300557": "Carcinoma of the ampulla of Vater / Ampullary carcinoma / Ampulloma", "ORPHA:300564": "Combined pulmonary fibrosis-emphysema syndrome / CPFE", "ORPHA:300576": "Oligodontia-cancer predisposition syndrome / Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome", "ORPHA:300579": "Staphylococcal toxemia", "ORPHA:300496": "Multiple congenital anomalies-hypotonia-seizures syndrome type 2 / MCAHS type 2", "ORPHA:300501": "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome", "ORPHA:300504": "Onychocytic matricoma / Acanthoma of the nail matrix", "ORPHA:300512": "Onychomatricoma", "ORPHA:300515": "Rare nail tumor", "ORPHA:300525": "Pseudohypoaldosteronism type 2D / PHA2D", "ORPHA:300530": "Pseudohypoaldosteronism type 2E / PHA2E", "ORPHA:300849": "Diffuse large B-cell lymphoma of the central nervous system / DLBCL of the CNS", "ORPHA:300846": "Aggressive B-cell non-Hodgkin lymphoma / Aggressive B-cell NHL", "ORPHA:300865": "Primary cutaneous anaplastic large cell lymphoma / Primary C-ALCL / Regressive atypical histiocytosis", "ORPHA:300857": "T-cell/histiocyte rich large B cell lymphoma / THRLBCL", "ORPHA:300878": "Hairy cell leukemia variant / HCL-v / Leukemic reticuloendotheliosis variant / Prolymphocytic variant of HCL / Prolymphocytic variant of hairy cell leukemia", "ORPHA:300869": "Splenic diffuse red pulp small B-cell lymphoma / SDRPL / Splenic diffuse red pulp lymphoma", "ORPHA:300895": "ALK-positive anaplastic large cell lymphoma / ALK+ ALCL / ALK+ anaplastic large cell lymphoma", "ORPHA:300888": "Diffuse large B-cell lymphoma with chronic inflammation / DLBCL with chronic inflammation", "ORPHA:300755": "Laminopathy with striated muscle involvement", "ORPHA:300763": "Laminopathy with lipodystrophy", "ORPHA:300758": "Laminopathy with peripheral neuropathy", "ORPHA:300842": "Indolent B-cell non-Hodgkin lymphoma / Indolent B-cell NHL", "ORPHA:300766": "Laminopathy with premature aging", "ORPHA:300903": "ALK-negative anaplastic large cell lymphoma / ALK- ALCL / ALK- anaplastic large cell lymphoma", "ORPHA:300912": "Marginal zone lymphoma", "ORPHA:304055": "Pituitary tumor", "ORPHA:306436": "OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance / OBSOLETE: CSID with starch intolerance / OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch intolerance / OBSOLETE: Congenital sucrose intolerance with starch intolerance / OBSOLETE: Disaccharide intolerance with starch intolerance", "ORPHA:306431": "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies / Acquired adult-onset immunodeficiency / Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies", "ORPHA:306462": "OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance / OBSOLETE: CSID without starch intolerance / OBSOLETE: Congenital sucrase-isomaltose malabsorption without starch intolerance / OBSOLETE: Congenital sucrose intolerance without starch intolerance / OBSOLETE: Disaccharide intolerance without starch intolerance", "ORPHA:306446": "OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance / OBSOLETE: CSID with minimal starch tolerance / OBSOLETE: Congenital sucrase-isomaltose malabsorption with minimal starch tolerance / OBSOLETE: Congenital sucrose intolerance with minimal starch tolerance / OBSOLETE: Disaccharide intolerance with minimal starch tolerance", "ORPHA:306553": "Myospherulosis / Spherulocytosis / Subcutaneous spherulocystic disease", "ORPHA:306547": "Porencephaly-microcephaly-bilateral congenital cataract syndrome", "ORPHA:306530": "Congenital hereditary facial paralysis-variable hearing loss syndrome / Congenital hereditary facial palsy with variable deafness / Congenital hereditary facial palsy with variable hearing loss / Congenital hereditary facial paralysis with variable deafness / Congenital hereditary facial paralysis-variable deafness syndrome", "ORPHA:306539": "OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary", "ORPHA:306522": "OBSOLETE: Genetic primary hypomagnesemia with normocalciuria", "ORPHA:306527": "Isolated hereditary congenital facial paralysis", "ORPHA:306516": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis / FHHNC / Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis / Michellis-Castrillo syndrome", "ORPHA:306519": "OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria", "ORPHA:306507": "LAMB2-related infantile-onset nephrotic syndrome", "ORPHA:306504": "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome / ILNEB syndrome / JEB with interstitial lung disease and nephrotic syndrome / Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome", "ORPHA:306474": "OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance / OBSOLETE: CSID with starch and lactose intolerance / OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance / OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance / OBSOLETE: Disaccharide intolerance with starch and lactose intolerance", "ORPHA:306486": "OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance / OBSOLETE: CSID without sucrose intolerance / OBSOLETE: Congenital sucrose-isomaltose malabsorption without sucrose intolerance / OBSOLETE: Disaccharide intolerance without sucrose intolerance", "ORPHA:306666": "Rare parkinsonian syndrome due to neurodegenerative disease", "ORPHA:306661": "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome / Hypercalcemic tumoral calcinosis", "ORPHA:306658": "Familial normophosphatemic tumoral calcinosis", "ORPHA:306648": "Non-infectious anterior uveitis / Non-infectious iridocyclitis", "ORPHA:306644": "Complication after organ transplantation", "ORPHA:306640": "Rare intoxication due to medical products", "ORPHA:306636": "Rare tumor of liver and intrahepatic biliary tract / Rare tumor of liver and IBT", "ORPHA:306633": "Rare tumor of gallbladder and extrahepatic biliary tract / Rare tumor of gallbladder and EBT", "ORPHA:306617": "X-linked complicated spastic paraplegia type 1 / SPG1", "ORPHA:306597": "OBSOLETE: X-linked Opitz G/BBB syndrome / OBSOLETE: X-linked Opitz BBB/G syndrome / OBSOLETE: X-linked Opitz syndrome / OBSOLETE: XLOS", "ORPHA:306588": "OBSOLETE: Autosomal dominant Opitz G/BBB syndrome / OBSOLETE: ADOS / OBSOLETE: Autosomal dominant Opitz BBB/G syndrome / OBSOLETE: Autosomal dominant Opitz syndrome", "ORPHA:306577": "Hereditary sodium channelopathy-related small fibers neuropathy", "ORPHA:306561": "OBSOLETE: Autosomal dominant childhood-onset cortical cataract / OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract", "ORPHA:306558": "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome", "ORPHA:295091": "OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral / OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral", "ORPHA:295089": "OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral / OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral", "ORPHA:295095": "OBSOLETE: Congenital absence of both forearm and hand, bilateral / OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral", "ORPHA:295093": "OBSOLETE: Congenital absence of both forearm and hand, unilateral / OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral", "ORPHA:295099": "OBSOLETE: Congenital absence of both lower leg and foot, bilateral / OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral", "ORPHA:295097": "OBSOLETE: Congenital absence of both lower leg and foot, unilateral / OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral", "ORPHA:295103": "OBSOLETE: Acheiria, bilateral / OBSOLETE: Congenital absence of hand, bilateral", "ORPHA:295101": "OBSOLETE: Acheiria, unilateral / OBSOLETE: Congenital absence of hand, unilateral", "ORPHA:295107": "OBSOLETE: Apodia, bilateral / OBSOLETE: Congenital absence of foot, bilateral", "ORPHA:295105": "OBSOLETE: Apodia, unilateral / OBSOLETE: Congenital absence of foot, unilateral", "ORPHA:295112": "OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral / OBSOLETE: Thumb hypodactyly, bilateral / OBSOLETE: Thumb oligodactyly, bilateral", "ORPHA:295110": "OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral / OBSOLETE: Thumb hypodactyly, unilateral / OBSOLETE: Thumb oligodactyly, unilateral", "ORPHA:295116": "OBSOLETE: Adactyly of foot, unilateral / OBSOLETE: Congenital absence of toes, unilateral", "ORPHA:295114": "OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral / OBSOLETE: Adactyly of hand, bilateral / OBSOLETE: Digits 2-5 hypodactyly, bilateral / OBSOLETE: Digits 2-5 oligodactyly, bilateral", "ORPHA:295120": "OBSOLETE: Split hand, unilateral / OBSOLETE: Ectrodactyly of hand, unilateral", "ORPHA:295118": "OBSOLETE: Adactyly of foot, bilateral / OBSOLETE: Congenital absence of toes, bilateral", "ORPHA:295122": "OBSOLETE: Split hand, bilateral / OBSOLETE: Ectrodactyly of hand, bilateral", "ORPHA:295124": "OBSOLETE: Split foot, unilateral", "ORPHA:295126": "OBSOLETE: Split foot, bilateral", "ORPHA:295128": "OBSOLETE: Brachydactyly of fingers, unilateral / OBSOLETE: Short fingers, unilateral", "ORPHA:295130": "OBSOLETE: Brachydactyly of fingers, bilateral / OBSOLETE: Short fingers, bilateral", "ORPHA:295132": "OBSOLETE: Brachydactyly of toes, unilateral / OBSOLETE: Short toes, unilateral", "ORPHA:295134": "OBSOLETE: Brachydactyly of toes, bilateral / OBSOLETE: Short toes, bilateral", "ORPHA:295136": "OBSOLETE: Symbrachydactyly of hand and foot, unilateral", "ORPHA:295138": "OBSOLETE: Symbrachydactyly of hand and foot, bilateral", "ORPHA:295140": "OBSOLETE: Hyperphalangy, unilateral / OBSOLETE: Hyperphalangy in digits 2-5 / OBSOLETE: Supernumerary phalanges, unilateral / OBSOLETE: Supernumerary phalanx, unilateral", "ORPHA:295142": "OBSOLETE: Hyperphalangy, bilateral / OBSOLETE: Supernumerary phalanges, bilateral / OBSOLETE: Supernumerary phalanx, bilateral", "ORPHA:295144": "OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral / OBSOLETE: Preaxial polydactyly type 1, unilateral", "ORPHA:295146": "OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral / OBSOLETE: Preaxial polydactyly type 1, bilateral", "ORPHA:295148": "OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral / OBSOLETE: Preaxial polydactyly type 2, unilateral / OBSOLETE: Unilateral PPD2", "ORPHA:295150": "OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral / OBSOLETE: Bilateral PPD2 / OBSOLETE: Preaxial polydactyly type 2, bilateral", "ORPHA:295152": "OBSOLETE: Polydactyly of an index finger, unilateral / OBSOLETE: Preaxial polydactyly type 3, unilateral", "ORPHA:295163": "OBSOLETE: Postaxial polydactyly type A, unilateral", "ORPHA:295161": "OBSOLETE: Polysyndactyly, bilateral / OBSOLETE: Preaxial polydactyly type 4, bilateral", "ORPHA:295159": "OBSOLETE: Polysyndactyly, unilateral / OBSOLETE: Preaxial polydactyly type 4, unilateral", "ORPHA:295154": "OBSOLETE: Polydactyly of an index finger, bilateral / OBSOLETE: Preaxial polydactyly type 3, bilateral", "ORPHA:295171": "OBSOLETE: Central polydactyly of fingers, unilateral / OBSOLETE: Mesoaxial polydactyly of fingers, unilateral / OBSOLETE: Mirror hand, unilateral", "ORPHA:295169": "OBSOLETE: Postaxial polydactyly type B, bilateral", "ORPHA:295167": "OBSOLETE: Postaxial polydactyly type B, unilateral", "ORPHA:295165": "OBSOLETE: Postaxial polydactyly type A, bilateral", "ORPHA:295179": "OBSOLETE: Postaxial polydactyly of toes, unilateral", "ORPHA:295177": "OBSOLETE: Preaxial polydactyly of toes, bilateral / OBSOLETE: Bifid great toes, bilateral / OBSOLETE: Bifid halluces, bilateral / OBSOLETE: Bifid hallux, bilateral", "ORPHA:295175": "OBSOLETE: Preaxial polydactyly of toes, unilateral / OBSOLETE: Bifid great toes, unilateral / OBSOLETE: Bifid halluces, unilateral / OBSOLETE: Bifid hallux, unilateral", "ORPHA:295173": "OBSOLETE: Central polydactyly of fingers, bilateral / OBSOLETE: Mesoaxial polydactyly of fingers, bilateral / OBSOLETE: Mirror hand, bilateral", "ORPHA:295187": "Zygodactyly type 1 / SD1, Weidenreich type / SD1a / Syndactyly type 1, Weidenreich type / Syndactyly type 1a / Zygodactyly, Weidenreich type", "ORPHA:295185": "OBSOLETE: Central polydactyly of toes, bilateral / OBSOLETE: Mesoaxial polydactyly of toes, bilateral / OBSOLETE: Mirror foot, bilateral", "ORPHA:295183": "OBSOLETE: Central polydactyly of toes, unilateral / OBSOLETE: Mesoaxial polydactyly of toes, unilateral / OBSOLETE: Mirror foot, unilateral", "ORPHA:295181": "OBSOLETE: Postaxial polydactyly of toes, bilateral", "ORPHA:295193": "Zygodactyly type 4 / SD1, Castilla type / SD1d / Syndactyly type 1, Castilla type / Syndactyly type 1d / Zygodactyly, Castilla type", "ORPHA:295195": "Synpolydactyly type 1 / SD2, Vordingborg type / SD2a / SPD, Vordingborg type / SPD1 / Synpolydactyly, Vordingborg type", "ORPHA:295189": "Zygodactyly type 2 / SD1, Lueken type / SD1b / Syndactyly type 1, Lueken type / Syndactyly type 1b / Zygodactyly, Lueken type", "ORPHA:295191": "Zygodactyly type 3 / SD1, Montagu type / SD1c / Syndactyly type 1, Montagu type / Syndactyly type 1c / Zygodactyly, Montagu type", "ORPHA:295201": "Congenital vertical talus, unilateral", "ORPHA:295203": "Congenital vertical talus, bilateral", "ORPHA:295197": "Synpolydactyly type 2 / SD2, Debeer type / SD2b / SPD, Debeer type / SPD2 / Synpolydactyly, Debeer type", "ORPHA:295199": "Synpolydactyly type 3 / SD2, Malik type / SD2c / SPD, Malik type / SPD3 / Synpolydactyly, Malik type", "ORPHA:295209": "OBSOLETE: Humero-radial synostosis, unilateral / OBSOLETE: Humero-radial fusion, unilateral", "ORPHA:295211": "OBSOLETE: Humero-radial synostosis, bilateral / OBSOLETE: Humero-radial fusion, bilateral", "ORPHA:295205": "OBSOLETE: Humero-radio-ulnar synostosis, unilateral / OBSOLETE: Humero-radio-ulnar fusion, unilateral", "ORPHA:295207": "OBSOLETE: Humero-radio-ulnar synostosis, bilateral / OBSOLETE: Humero-radio-ulnar fusion, bilateral", "ORPHA:295217": "OBSOLETE: Radio-ulnar synostosis, unilateral / OBSOLETE: Radio-ulnar fusion, unilateral", "ORPHA:295219": "OBSOLETE: Radio-ulnar synostosis, bilateral / OBSOLETE: Radio-ulnar fusion, bilateral", "ORPHA:295213": "OBSOLETE: Humero-ulnar synostosis, unilateral / OBSOLETE: Humero-ulnar fusion, unilateral", "ORPHA:295215": "OBSOLETE: Humero-ulnar synostosis, bilateral / OBSOLETE: Humero-ulnar fusion, bilateral", "ORPHA:295232": "Congenital genu flexum", "ORPHA:295229": "Congenital genu recurvatum", "ORPHA:295237": "OBSOLETE: Congenital patella dislocation, bilateral", "ORPHA:295234": "OBSOLETE: Congenital patella dislocation, unilateral", "ORPHA:295223": "OBSOLETE: Madelung deformity, bilateral", "ORPHA:295221": "OBSOLETE: Madelung deformity, unilateral", "ORPHA:295227": "Congenital elbow dislocation, bilateral", "ORPHA:295225": "Congenital elbow dislocation, unilateral", "ORPHA:295241": "Macrodactyly of fingers, bilateral / Macrodactyly of hand, bilateral", "ORPHA:295239": "Macrodactyly of fingers, unilateral / Macrodactyly of hand, unilateral", "ORPHA:295245": "Macrodactyly of toes, bilateral / Macrodactyly of foot, bilateral", "ORPHA:295243": "Macrodactyly of toes, unilateral / Macrodactyly of foot, unilateral", "ORPHA:298644": "Disorder of thiamine metabolism and transport", "ORPHA:300319": "Charcot-Marie-Tooth disease type 2P / CMT2P", "ORPHA:300324": "Persistent polyclonal B-cell lymphocytosis / PPBL / Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes", "ORPHA:300313": "Congenital cataract-hearing loss-severe developmental delay syndrome / Congenital cataract-deafness-severe developmental delay syndrome / Huppke-Brendel syndrome / Lethal neurodegenerative disorder due to copper transport defect", "ORPHA:300284": "Connective tissue disorder due to lysyl hydroxylase-3 deficiency / Bone fragility-contractures-arterial rupture-deafness syndrome / Bone fragility-contractures-arterial rupture-hearing loss syndrome / Connective tissue disorder due to LH3 deficiency", "ORPHA:300293": "Transient infantile hypertriglyceridemia and hepatosteatosis / Transient infantile hypertriglyceridemia and fatty liver", "ORPHA:300382": "Progeroid and marfanoid aspect-lipodystrophy syndrome", "ORPHA:300345": "Autosomal systemic lupus erythematosus / Autosomal SLE / Familial SLE / Familial systemic lupus erythematosus", "ORPHA:300359": "PLCG2-associated antibody deficiency and immune dysregulation / FACU / Familial atypical cold urticaria / Familial cold urticaria with common variable immunodeficiency / PLAID", "ORPHA:300333": "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome / EBS with nephropathy / Epidermolysis bullosa simplex with nephropathy / Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome", "ORPHA:300337": "OBSOLETE: Congenital blindness due to retinal non-attachment", "ORPHA:464682": "OBSOLETE: Disorder with acute infantile liver failure", "ORPHA:464724": "Fever-associated acute infantile liver failure syndrome", "ORPHA:464760": "Familial cavitary optic disc anomaly / Familial CODA", "ORPHA:464756": "Familial gastric type 1 neuroendocrine tumor", "ORPHA:464764": "Immune-mediated acquired neuromuscular junction disease", "ORPHA:464293": "NON RARE IN EUROPE: Infantile capillary hemangioma", "ORPHA:464321": "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome / Cutaneovisceral angiomatosis-thrombocytopenia syndrome / MLT / Multifocal lymphangioendotheliomatosis with thrombocytopenia", "ORPHA:464311": "Intellectual disability syndrome due to a DYRK1A point mutation / DYRK1A-related intellectual disability syndrome due to a point mutation", "ORPHA:464366": "NEK9-related lethal skeletal dysplasia / Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome", "ORPHA:464359": "Benign metanephric tumor", "ORPHA:464336": "BENTA disease / B-cell expansion with NF-kB and T-cell anergy disease", "ORPHA:464443": "COG6-CGD / CDG syndrome type IIL / CDG-IIL / CDG2L / Congenital disorder of glycosylation type 2l / Congenital disorder of glycosylation type IIL", "ORPHA:464370": "Neonatal alloimmune neutropenia", "ORPHA:464463": "NON RARE IN EUROPE: Adenocarcinoma of stomach / NON RARE IN EUROPE: Gastric adenocarcinoma", "ORPHA:464458": "Paracetamol poisoning / Acetaminophen poisoning", "ORPHA:456298": "1p35.2 microdeletion syndrome / Del(1)(p35.2) / Deletion 1p35.2 / Monosomy 1p35.2", "ORPHA:456333": "Hereditary neuroendocrine tumor of small intestine / Hereditary SB-NET / Hereditary SI-NET / Hereditary neuroendocrine tumor of small bowel / Small bowel hereditary neuroendocrine tumor / Small intestine hereditary neuroendocrine tumor", "ORPHA:456318": "Hereditary sensory neuropathy-deafness-dementia syndrome / HSAN1E / HSN1E / Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome", "ORPHA:454872": "OBSOLETE: Type 1 interferonopathy with immunodeficiency", "ORPHA:454831": "Acute radiation syndrome / Acute radiation sickness", "ORPHA:454836": "Avian influenza", "ORPHA:454742": "Variably protease-sensitive prionopathy", "ORPHA:454723": "Endometrioid carcinoma of ovary", "ORPHA:454718": "Holmes-Adie syndrome / Tonic pupil-tendon areflexia syndrome", "ORPHA:454714": "Plasma cell leukemia / PCL", "ORPHA:454821": "OBSOLETE: Pleomorphic salivary gland adenoma", "ORPHA:454750": "Isolated tracheoesophageal fistula / H-type tracheoesophageal fistula", "ORPHA:454745": "Kuru", "ORPHA:454710": "Anti-p200 pemphigoid", "ORPHA:454706": "Progressive muscular atrophy / PMA", "ORPHA:454700": "Acquired Creutzfeldt-Jakob disease", "ORPHA:451602": "Primary cutaneous plasmacytosis", "ORPHA:451607": "Cutaneous pseudolymphoma", "ORPHA:451612": "Familial congenital nasolacrimal duct obstruction", "ORPHA:453510": "Congenital insensitivity to pain with severe intellectual disability / Congenital absence of pain with severe intellectual disability / Congenital analgesia with severe intellectual disability / Congenital insensitivity to pain with preserved temperature sensation / Congenital insensitivity to pain with severe non-progressive cognitive delay", "ORPHA:450322": "Polyclonal hyperviscosity syndrome", "ORPHA:449566": "Eosinophilic angiocentric fibrosis / IgG4-related eosinophilic angiocentric fibrosis", "ORPHA:449563": "IgG4-related ophthalmic disease", "ORPHA:449291": "Symptomatic form of fragile X syndrome in female carriers", "ORPHA:449400": "IgG4-related aortitis", "ORPHA:449395": "IgG4-related kidney disease", "ORPHA:449432": "IgG4-related submandibular gland disease / Küttner tumor", "ORPHA:449427": "IgG4-related pachymeningitis / Idiopathic hypertrophic pachymeningitis", "ORPHA:449280": "Scedosporiosis", "ORPHA:449285": "Snakebite envenomation", "ORPHA:449266": "Pleural empyema", "ORPHA:449262": "NON RARE IN EUROPE: Primary bile acid malabsorption", "ORPHA:448372": "OBSOLETE: X-linked acrogigantism due to Xq26 microduplication / OBSOLETE: Familial infantile gigantism due to Xq26 microduplication / OBSOLETE: Familial infantile gigantism due to dup(X)q(26) / OBSOLETE: X-LAG due to dup(X)q(26)", "ORPHA:448426": "Genetic primary orthostatic hypotension", "ORPHA:448348": "OBSOLETE: X-linked acrogigantism due to a point mutation / OBSOLETE: Familial infantile gigantism due to a point mutation / OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation", "ORPHA:448264": "Isolated focal non-epidermolytic palmoplantar keratoderma", "ORPHA:448251": "Progressive autosomal recessive ataxia-deafness syndrome / Lichtenstein-Knorr syndrome / Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome / SCAR19", "ORPHA:448270": "Ectopia cordis", "ORPHA:448267": "Regressive spondylometaphyseal dysplasia", "ORPHA:448010": "CAD-CDG / CDG syndrome type Iz / CDG-Iz / CDG1Z / Carbohydrate deficient glycoprotein syndrome type Iz / Congenital disorder of glycosylation type 1z", "ORPHA:448242": "Autosomal recessive brachyolmia / Brachyolmia, Hobaek/Toledo type", "ORPHA:448237": "Zika virus disease / Zika virus infection", "ORPHA:447977": "Progressive scapulohumeroperoneal distal myopathy", "ORPHA:447974": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome", "ORPHA:447985": "Partial duplication of the short arm of chromosome 19 syndrome / Partial duplication of chromosome 19p / Partial trisomy of chromosome 19p / Partial trisomy of the short arm of chromosome 19", "ORPHA:447980": "19p13.3 microduplication syndrome / Dup(19)(p13.3)", "ORPHA:447954": "Combined oxidative phosphorylation defect type 25 / COXPD25", "ORPHA:447964": "Autosomal dominant Charcot-Marie-Tooth disease type 2V / Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation / CMT2V / Hereditary adult-onset painful axonal polyneuropathy", "ORPHA:447961": "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome", "ORPHA:459353": "OBSOLETE: C1 inhibitor deficiency", "ORPHA:459526": "Rare genetic capillary malformation", "ORPHA:459345": "Immunodeficiency due to a complement cascade component deficiency", "ORPHA:459348": "Immunodeficiency due to a complement regulatory deficiency", "ORPHA:459543": "Rare genetic vascular tumor", "ORPHA:459548": "Rare genetic venous malformation", "ORPHA:459530": "OBSOLETE: Genetic primary lymphedema", "ORPHA:459537": "Genetic complex vascular malformation with associated anomalies / Genetic hemangiolymphangioma", "ORPHA:459787": "Lethal multiple congenital anomalies/dysmorphic syndrome", "ORPHA:459690": "NON RARE IN EUROPE: Gender dysphoria", "ORPHA:459696": "NON RARE IN EUROPE: Juvenile idiopathic scoliosis", "ORPHA:458837": "Rare combined vascular malformation", "ORPHA:458833": "Common cystic lymphatic malformation", "ORPHA:458844": "Rare vascular malformation of major vessels", "ORPHA:458841": "OBSOLETE: Primary lymphedema with associated anomalies", "ORPHA:459051": "Spondyloepiphyseal dysplasia, Stanescu type / SED, Stanescu type", "ORPHA:459074": "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome / 7q36.3 microduplication syndrome / Dup(7)(q36.3)", "ORPHA:459070": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome", "ORPHA:458713": "NON RARE IN EUROPE: Specific language impairment", "ORPHA:458718": "Idiopathic spontaneous coronary artery dissection / Idiopathic SCAD", "ORPHA:458758": "Composite hemangioendothelioma", "ORPHA:458763": "Retiform hemangioendothelioma", "ORPHA:458768": "Papillary intralymphatic angioendothelioma / Dabska tumor / PILA / Primary intralymphatic angioendothelioma", "ORPHA:458775": "Congenital hemangioma", "ORPHA:458785": "Partially involuting congenital hemangioma", "ORPHA:458792": "Mixed cystic lymphatic malformation / Mixed cystic lymphangioma", "ORPHA:458827": "OBSOLETE: Vascular tumor with associated anomalies", "ORPHA:458830": "Rare capillary malformation with associated anomalies", "ORPHA:457265": "Progressive myoclonic epilepsy type 9 / EPM9 / PME type 9 / Progressive myoclonic epilepsy due to LMNB2 deficiency / Progressive myoclonus epilepsy type 9", "ORPHA:457252": "Squamous cell carcinoma of the oral tongue / OTSCC / Oral tongue squamous cell carcinoma", "ORPHA:457246": "Clear cell sarcoma of kidney / CCSK", "ORPHA:457406": "Multiple mitochondrial dysfunctions syndrome type 4 / MMDS4", "ORPHA:457375": "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement / Martsolf-like syndrome", "ORPHA:457378": "Complex lethal osteochondrodysplasia / Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type", "ORPHA:457359": "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome", "ORPHA:457365": "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome", "ORPHA:457185": "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome / COQ4-related neonatal encephalomyopathy", "ORPHA:457083": "Isolated splenogonadal fusion / SGF", "ORPHA:457077": "TAFRO syndrome / Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome", "ORPHA:457095": "Actinomycosis", "ORPHA:457088": "Predisposition to invasive fungal disease due to CARD9 deficiency / Invasive candidiasis-deep dermatophytosis syndrome", "ORPHA:457223": "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect / Syndromic sensorineural deafness due to COXPD / Syndromic sensorineural hearing loss due to COXPD", "ORPHA:457205": "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome / ANOAC / Axonal neuropathy-optic atrophy-cognitive deficit syndrome", "ORPHA:456369": "Polyglucosan body myopathy type 2", "ORPHA:457062": "Pseudohypoparathyroidism without Albright hereditary osteodystrophy", "ORPHA:457074": "Congenital nemaline myopathy", "ORPHA:651": "NON RARE IN EUROPE: Idiopathic infantile nystagmus / NON RARE IN EUROPE: Congenital idiopathic nystagmus / NON RARE IN EUROPE: Infantile nystagmus syndrome / NON RARE IN EUROPE: Motor congenital nystagmus", "ORPHA:103": "OBSOLETE: Genetic optic atrophy", "ORPHA:629": "Short stature due to growth hormone qualitative anomaly / Kowarski syndrome", "ORPHA:632": "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia", "ORPHA:1303": "Bronchiolitis obliterans / Constrictive bronchiolitis / Obliterative bronchiolitis", "ORPHA:2902": "Idiopathic chronic eosinophilic pneumonia / Chronic eosinophilic pneumonia", "ORPHA:1302": "Cryptogenic organizing pneumonia / BOOP / Bronchiolitis obliterans organizing pneumonia / COP", "ORPHA:891": "Familial exudative vitreoretinopathy / Criswick-Schepens syndrome / FEVR", "ORPHA:466677": "Scorpion envenomation", "ORPHA:466682": "Euthyroid Graves orbitopathy / Euthyroid Graves ophthalmopathy", "ORPHA:466695": "Supratip dysplasia", "ORPHA:466658": "Rare disease with malignant hyperthermia", "ORPHA:466667": "NON RARE IN EUROPE: Colorectal cancer", "ORPHA:466670": "Cyanide poisoning", "ORPHA:466673": "NON RARE IN EUROPE: Post-herpetic neuralgia", "ORPHA:466650": "Exercise-induced malignant hyperthermia / Exertional heat stroke", "ORPHA:466962": "SMARCA4-deficient sarcoma of thorax / SMARCA4-deficient thoracic sarcoma", "ORPHA:466943": "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome / DESSH / Desanto-Shinawi syndrome", "ORPHA:466921": "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome", "ORPHA:466806": "Autosomal dominant thrombocytopenia with platelet secretion defect", "ORPHA:466801": "OBSOLETE: LIMS2-related myopathy", "ORPHA:466784": "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect / COXPD28 / Combined oxidative phosphorylation defect type 28", "ORPHA:466775": "Autosomal recessive Charcot-Marie-Tooth disease type 2X / ARCMT2X / Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation", "ORPHA:466732": "OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome / OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome", "ORPHA:466729": "Familial patent arterial duct", "ORPHA:466718": "Martinique crinkled retinal pigment epitheliopathy / MCRPE", "ORPHA:466703": "TMEM199-CDG / CDG syndrome type IIp / CDG-IIp / CDG2P / Carbohydrate deficient glycoprotein syndrome type IIp / Congenital disorder of glycosylation type 2p / Congenital disorder of glycosylation type IIp", "ORPHA:465824": "Fetal encasement syndrome", "ORPHA:466084": "Genetic otorhinolaryngologic disease", "ORPHA:466066": "Genetic hemoglobinopathy", "ORPHA:466026": "Class I glucose-6-phosphate dehydrogenase deficiency / Class I G6PD deficiency / Severe hemolytic anemia due to G6PD deficiency", "ORPHA:467166": "Tubulinopathy-associated dysgyria / Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome", "ORPHA:467176": "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome", "ORPHA:468635": "Cryptogenic multifocal ulcerous stenosing enteritis / CMUSE", "ORPHA:468641": "Chronic enteropathy associated with SLCO2A1 gene / CEAS", "ORPHA:468666": "Isolated generalized anhidrosis with normal sweat glands", "ORPHA:468684": "CCDC115-CDG / CDG syndrome type IIo / CDG-IIo / CDG2O / Carbohydrate deficient glycoprotein syndrome type IIo / Congenital disorder of glycosylation type 2o / Congenital disorder of glycosylation type IIo", "ORPHA:468672": "Colobomatous macrophthalmia-microcornea syndrome / MACOM syndrome", "ORPHA:468726": "Severe primary trimethylaminuria / TMAU", "ORPHA:468717": "Rhizomelic chondrodysplasia punctata type 5", "ORPHA:401764": "Pancytopenia-developmental delay syndrome / Trilineage bone marrow failure-developmental delay syndrome", "ORPHA:401825": "Autosomal recessive spastic paraplegia type 68 / SPG68", "ORPHA:401869": "Multiple mitochondrial dysfunctions syndrome type 1 / MMDS1 / NFU1 deficiency", "ORPHA:401874": "Multiple mitochondrial dysfunctions syndrome type 2 / BOLA3 deficiency / MMDS2", "ORPHA:401854": "Lipoic acid biosynthesis defect / Lipoate biosynthesis defect", "ORPHA:401859": "Lipoic acid synthetase deficiency", "ORPHA:401862": "Lipoyl transferase 1 deficiency", "ORPHA:400008": "Rare genetic female infertility", "ORPHA:400003": "Rare genetic disorder with obstructive azoospermia / Rare genetic disorder due to impaired sperm transport", "ORPHA:399998": "Male infertility due to obstructive azoospermia of genetic origin / Male infertility due to impaired sperm transport of genetic origin", "ORPHA:399994": "Rare male infertility due to adrenal disorder of genetic origin", "ORPHA:399983": "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin / Rare male infertility due to gonadotropic axis disorder of genetic origin / Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin", "ORPHA:399980": "Rare genetic male infertility", "ORPHA:399882": "Rare female infertility due to an implantation defect", "ORPHA:399877": "Rare female infertility due to gonadal dysgenesis / Rare female infertility due to ovarian dysgenesis", "ORPHA:400025": "Female infertility due to an implantation defect of genetic origin", "ORPHA:400022": "Rare female infertility due to an anomaly of ovarian function of genetic origin", "ORPHA:400018": "Rare female infertility due to adrenal disorder of genetic origin", "ORPHA:400011": "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin / Rare female infertility due to gonadotropic axis disorder of genetic origin / Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin", "ORPHA:402823": "Hepatitis delta / HDV / Hepatitis D virus", "ORPHA:401920": "Fibrolamellar hepatocellular carcinoma / FHCC / Fibrolamellar hepatocarcinoma", "ORPHA:401935": "14q24.1q24.3 microdeletion syndrome / Del(14)(q24.1q24.3) / Monosomy 14q24.1q24.3", "ORPHA:401923": "9q31.1q31.3 microdeletion syndrome / Del(9)(q31.1q31.3) / Monosomy 9q31.1q31.3", "ORPHA:401959": "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome", "ORPHA:401948": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency / CA-VA deficiency", "ORPHA:401986": "1p31p32 microdeletion syndrome / Del(1)(p31p32) / Monosomy 1p31p32", "ORPHA:401979": "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type", "ORPHA:401964": "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons / Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons / CMT2 with giant axons / HMSN2 with giant axons", "ORPHA:402003": "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering", "ORPHA:402007": "Lichen myxedematosus", "ORPHA:401993": "Cold-induced sweating syndrome-hyperthermia spectrum", "ORPHA:401996": "Karyomegalic interstitial nephritis / KIN / Systemic karyomegaly", "ORPHA:402017": "Acute myeloid leukemia with t(9;11)(p22;q23) / AML with t(9;11)(p22;q23)", "ORPHA:402020": "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) / AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)", "ORPHA:402014": "Acute myeloid leukemia with t(6;9)(p23;q34) / AML with t(6;9)(p23;q34)", "ORPHA:402029": "Primary eosinophilic gastrointestinal disease / EGID", "ORPHA:402035": "Eosinophilic colitis", "ORPHA:402023": "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) / Megakaryoblastic AML with t(1;22)(p13;q13)", "ORPHA:402026": "Acute myeloid leukemia with NPM1 somatic mutations / AML with NPM1 somatic mutations", "ORPHA:402082": "Progressive myoclonic epilepsy type 5 / EPM5 / PME type 5 / Progressive myoclonus epilepsy type 5", "ORPHA:402364": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly", "ORPHA:402041": "Autosomal recessive distal renal tubular acidosis / AR dRTA / Autosomal recessive distal RTA", "ORPHA:806": "Scott syndrome", "ORPHA:404580": "Polyarticular juvenile idiopathic arthritis / Juvenile polyarthritis / Juvenile polyarticular arthritis / Polyarticular JIA", "ORPHA:404584": "Rare genetic bone development disorder / Rare genetic skeletal development disorder", "ORPHA:404469": "Rare female infertility due to oocyte maturation defect", "ORPHA:404463": "Multisystemic smooth muscle dysfunction syndrome", "ORPHA:404466": "Female infertility due to zona pellucida defect", "ORPHA:404451": "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome", "ORPHA:404437": "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome", "ORPHA:404577": "Genetic syndrome with limb malformations as a major feature", "ORPHA:404574": "Genetic syndrome with limb reduction defects", "ORPHA:404571": "Dysostosis of genetic origin with limb anomaly as a major feature", "ORPHA:404568": "Dysostosis of genetic origin", "ORPHA:404560": "Familial atypical multiple mole melanoma syndrome / B-K mole syndrome / FAMM-PC syndrome / FAMMM syndrome / Familial atypical mole syndrome / Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome / Familial dysplastic nevus syndrome / Melanoma-pancreatic cancer syndrome", "ORPHA:404553": "Adenosine deaminase 2 deficiency / DADA2 / Deficiency of adenosine deaminase 2 / Vasculitis due to ADA2 deficiency / Vasculitis due to DADA2", "ORPHA:404546": "DITRA / Deficiency of IL-36R antagonist / Deficiency of IL-36Ra", "ORPHA:404538": "X-linked distal hereditary motor neuropathy / X-linked dHMN / X-linked distal spinal muscular atrophy", "ORPHA:404521": "Spinal muscular atrophy with respiratory distress type 2 / Diaphragmatic spinal muscular atrophy type 2 / SMARD2 / Severe infantile axonal neuropathy with respiratory failure type 2 / X-linked spinal muscular atrophy with respiratory distress", "ORPHA:404514": "Acquired cystic disease-associated renal cell carcinoma", "ORPHA:404511": "Clear cell papillary renal cell carcinoma", "ORPHA:404507": "Chondromyxoid fibroma", "ORPHA:404481": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome", "ORPHA:404476": "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome / GLOW syndrome", "ORPHA:411527": "Central retinal vein occlusion / CRVO", "ORPHA:411533": "NON RARE IN EUROPE: Melanoma", "ORPHA:411536": "Mild phosphoribosylpyrophosphate synthetase superactivity / Mild PRPP synthetase superactivity / Mild PRPS1 superactivity", "ORPHA:411543": "Severe phosphoribosylpyrophosphate synthetase superactivity / Severe PRPP synthetase superactivity / Severe PRPS1 superactivity", "ORPHA:411501": "Williams-Campbell syndrome", "ORPHA:411511": "Angelman syndrome due to a point mutation", "ORPHA:411515": "Angelman syndrome due to imprinting defect in 15q11-q13", "ORPHA:411712": "Maternal riboflavin deficiency", "ORPHA:411788": "Familial isolated trichomegaly", "ORPHA:411969": "NON RARE IN EUROPE: Metabolic syndrome", "ORPHA:412035": "13q12.3 microdeletion syndrome / Del(13)(q12.3) / Monosomy 13q12.3", "ORPHA:412022": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome / FDLAB syndrome / Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome / Traboulsi syndrome", "ORPHA:411696": "Proton-pump inhibitor-responsive esophageal eosinophilia / PPI-REE / PPI-responsive esophageal eosinophilia / PPIRee", "ORPHA:411703": "Pulmonary non-tuberculous mycobacterial infection / Non-tuberculous mycobacterial lung disease", "ORPHA:376724": "Generalized isolated dystonia", "ORPHA:371445": "Genetic syndromic esophageal malformation", "ORPHA:371861": "Genetic hyperaldosteronism", "ORPHA:371235": "Congenital disorder of glycosylation with developmental anomaly / CDG with developmental anomaly", "ORPHA:371207": "Congenital disorder of glycosylation with nephropathy as a major feature / CDG with nephropathy as a major feature", "ORPHA:371200": "Congenital disorder of glycosylation with skin involvement / CDG with skin involvement", "ORPHA:371212": "Congenital disorder of glycosylation with deafness as a major feature / CDG with deafness as a major feature / CDG with hearing loss as a major feature / Congenital disorder of glycosylation with hearing loss as a major feature", "ORPHA:371436": "Genetic neurovascular malformation", "ORPHA:371433": "Genetic periodic paralysis", "ORPHA:371442": "Sphingolipidosis with epilepsy", "ORPHA:371439": "OBSOLETE: Genetic cerebrovascular dementia", "ORPHA:85196": "NAO syndrome / Nodulosis-arthropathy-osteolysis syndrome", "ORPHA:371364": "Hypotonia-speech impairment-severe cognitive delay syndrome / IHPRF syndrome / Infantile hypotonia-psychomotor retardation-characteristic facies syndrome", "ORPHA:391711": "Persistent combined dystonia", "ORPHA:391673": "Necrotizing enterocolitis", "ORPHA:391677": "Short stature-optic atrophy-Pelger-Huët anomaly syndrome / SOPH syndrome", "ORPHA:391723": "Mucinous adenocarcinoma of the appendix / Appendiceal mucinous adenocarcinoma", "ORPHA:391799": "Rare genetic dystonia / Rare genetic dystonic disorder", "ORPHA:391479": "OBSOLETE: Syndromic frontonasal dysplasia / OBSOLETE: Syndromic median cleft syndrome", "ORPHA:391504": "Transient neonatal myasthenia gravis / NMG / Neonatal myasthenia gravis / Transient neonatal acquired myasthenia / Transient neonatal autoimmune myasthenia gravis", "ORPHA:391497": "Juvenile myasthenia gravis / Childhood myasthenia gravis / Juvenile acquired myasthenia / Juvenile autoimmune myasthenia gravis", "ORPHA:391490": "Adult-onset myasthenia gravis / Adult-onset acquired myasthenia / Adult-onset autoimmune myasthenia gravis", "ORPHA:391658": "OBSOLETE: Cowpox infection", "ORPHA:391655": "Off-periods in Parkinson disease not responding to oral treatment", "ORPHA:391651": "Glomus tumor", "ORPHA:391343": "Fatal post-viral neurodegenerative disorder", "ORPHA:391348": "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome", "ORPHA:391351": "SURF1-related Charcot-Marie-Tooth disease type 4 / CMT4K / Charcot-Marie-Tooth disease type 4K / SURF1-related CMT4 / SURF1-related severe demyelinating Charcot-Marie-Tooth disease", "ORPHA:391366": "Growth retardation-mild developmental delay-chronic hepatitis syndrome", "ORPHA:391376": "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome / Asparagine synthetase deficiency", "ORPHA:391381": "Disorder of asparagine metabolism", "ORPHA:391384": "Familial episodic pain syndrome / FEPS", "ORPHA:391389": "Familial episodic pain syndrome with predominantly upper body involvement", "ORPHA:391392": "Familial episodic pain syndrome with predominantly lower limb involvement", "ORPHA:391397": "Hereditary sensory and autonomic neuropathy type 7 / CIP with hyperhidrosis and gastrointestinal dysfunction / Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction / HSAN with hyperhidrosis and gastrointestinal dysfunction / HSAN7 / Hereditary sensory and autonomic neuropathy type VII / Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction", "ORPHA:391408": "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome", "ORPHA:391428": "HSD10 disease, infantile type / 2-methyl-3-hydroxybutyric aciduria, classic type / 2-methyl-3-hydroxybutyric aciduria, infantile type / 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type / 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type / HSD10 deficiency, classic type / HSD10 deficiency, infantile type / HSD10 disease, classic type / MHBD deficiency, classic type / MHBD deficiency, infantile type", "ORPHA:391457": "HSD10 disease, neonatal type / 2-methyl-3-hydroxybutyric aciduria, neonatal type / 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type / HSD10 deficiency, neonatal type / MHBD deficiency, neonatal type", "ORPHA:391316": "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression", "ORPHA:391311": "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency / Predisposition to severe viral infection due to STAT1 deficiency", "ORPHA:391327": "X-linked calvarial hyperostosis", "ORPHA:391320": "East Texas bleeding disorder / FV East Texas bleeding disorder / Factor V East Texas bleeding disorder", "ORPHA:391330": "X-linked osteoporosis with fractures", "ORPHA:398063": "Refractory celiac disease / Refractory CD / Refractory sprue", "ORPHA:398058": "Squamous cell carcinoma of the penis / Penile squamous cell carcinoma", "ORPHA:398053": "Adenocarcinoma of the penis / Penile adenocarcinoma", "ORPHA:398043": "Malignant tumor of penis / Cancer of penis / Malignant penile tumor / Penile cancer", "ORPHA:397968": "Charcot-Marie-Tooth disease type 2R / CMT2R", "ORPHA:397964": "Combined immunodeficiency due to MALT1 deficiency", "ORPHA:397959": "TCR-alpha-beta-positive T-cell deficiency / TCR-alpha-beta+ T-cell deficiency", "ORPHA:397937": "Polyglucosan body myopathy type 1 / PGBM1", "ORPHA:397927": "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome", "ORPHA:397922": "Ferro-cerebro-cutaneous syndrome / Cerebro-cutaneous syndrome with iron overload", "ORPHA:397787": "Combined immunodeficiency due to IKK2 deficiency / CID due to IKK2 deficiency / Combined immunodeficiency due to I-kappa-B kinase 2 deficiency", "ORPHA:397802": "T+ B+ severe combined immunodeficiency", "ORPHA:397755": "Periodic paralysis with transient compartment-like syndrome", "ORPHA:397758": "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies / Retinal dystrophy with inner nuclear layer and ganglion cell anomalies", "ORPHA:397750": "Periodic paralysis with later-onset distal motor neuropathy", "ORPHA:397735": "Autosomal dominant Charcot-Marie-Tooth disease type 2U / Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation / CMT2U", "ORPHA:397692": "Hereditary isolated aplastic anemia", "ORPHA:397623": "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome / SAMS syndrome", "ORPHA:397615": "Obesity due to CEP19 deficiency", "ORPHA:397618": "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome / FHONDA syndrome", "ORPHA:397596": "Activated PI3K-delta syndrome / APDS / Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation", "ORPHA:397593": "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency", "ORPHA:397606": "PrP systemic amyloidosis / Chronic diarrhea with HSAN / Chronic diarrhea with hereditary sensory and autonomic neuropathy / Prion protein systemic amyloidosis", "ORPHA:397590": "Silver-Russell syndrome due to a point mutation", "ORPHA:397587": "Deep dermatophytosis / Disseminated granulomatous dermatophytosis", "ORPHA:394532": "Multiple acyl-CoA dehydrogenase deficiency, mild type / Glutaric aciduria type 2, mild type / MAD deficiency, mild type / MADD, mild type", "ORPHA:394529": "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type / Glutaric aciduria type 2, severe neonatal type / MAD deficiency, severe neonatal type / MADD, severe neonatal type", "ORPHA:399839": "Rare female infertility due to a congenital hypogonadotropic hypogonadism", "ORPHA:399831": "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder / Rare female infertility due to gonadotropic axis disorder / Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder", "ORPHA:399824": "Rare disorder with obstructive azoospermia / Rare disorder due to impaired sperm transport", "ORPHA:399813": "Male infertility due to sperm motility disorder / Male infertility due to asthenozoospermia", "ORPHA:399853": "Rare female infertility due to an anomaly of ovarian function", "ORPHA:399849": "Rare female infertility due to an adrenal disorder", "ORPHA:399846": "Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism", "ORPHA:399771": "Male infertility due to sperm disorder", "ORPHA:399764": "Male infertility due to gonadal dysgenesis or sperm disorder / Male infertility due to testicular dysgenesis or sperm disorder", "ORPHA:399685": "Rare male infertility due to testicular endocrine disorder", "ORPHA:399584": "Rare male infertility due to adrenal disorder", "ORPHA:399786": "Male infertility with spermatogenesis disorder due to single gene mutation", "ORPHA:399775": "Male infertility with spermatogenesis disorder", "ORPHA:399329": "Epiphysiolysis of the hip / Epiphysiolysis of the upper femur / Femoral head epiphysiolysis / SCFE / SUFE / Slipped capital femoral epiphysis / Slipped upper femoral epiphysis", "ORPHA:399391": "Osteochondrosis of genetic origin", "ORPHA:399572": "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder / Rare male infertility due to gonadotropic axis disorder / Rare male infertility due to hypothalamic-pituitary-testicular axis disorder", "ORPHA:399380": "Osteonecrosis of genetic origin / Bone necrosis of genetic origin", "ORPHA:399388": "Avascular necrosis of genetic origin", "ORPHA:399185": "Rare hereditary disease with avascular necrosis", "ORPHA:399169": "Secondary avascular necrosis / Secondary AVN", "ORPHA:399175": "Traumatic avascular necrosis / Traumatic AVN", "ORPHA:399307": "Idiopathic avascular necrosis / Idiopathic AVN", "ORPHA:399319": "Osteochondrosis", "ORPHA:399293": "Osteonecrosis of the jaw", "ORPHA:399302": "Primary avascular necrosis / Primary AVN", "ORPHA:398987": "Malignant teratoma of ovary / Immature teratoma of ovary / Ovarian immature teratoma / Ovarian malignant teratoma", "ORPHA:399164": "Avascular necrosis / AVN", "ORPHA:399158": "Osteonecrosis / Bone necrosis", "ORPHA:398934": "Malignant epithelial tumor of ovary / Epithelial cancer of ovary / Ovarian epithelial cancer / Ovarian malignant epithelial tumor", "ORPHA:398961": "Mucinous adenocarcinoma of ovary / Ovarian mucinous adenocarcinoma", "ORPHA:398940": "Malignant non-epithelial tumor of ovary / Non-epithelial cancer of ovary / Ovarian malignant non-epithelial tumor / Ovarian non-epithelial cancer", "ORPHA:398980": "OBSOLETE: Primary peritoneal serous/papillary carcinoma / OBSOLETE: PPSPC", "ORPHA:398971": "Clear cell adenocarcinoma of the ovary / Ovarian clear cell adenocarcinoma", "ORPHA:398127": "Neonatal scleroderma", "ORPHA:398147": "Persistent idiopathic facial pain / AFP / Atypical facial pain / PIFP", "ORPHA:398166": "Focal facial dermal dysplasia / FFDD", "ORPHA:398079": "SIM1-related Prader-Willi-like syndrome / SIM1-related PWLS", "ORPHA:398088": "Hereditary cryohydrocytosis with normal stomatin", "ORPHA:398091": "Secondary neonatal autoimmune disease / Transplacentally acquired neonatal autoimmune disease", "ORPHA:398097": "Neonatal antiphospholipid syndrome / Neonatal Hughes syndrome / Neonatal antiphospholipid antibody syndrome", "ORPHA:398109": "Neonatal autoimmune hemolytic anemia / Neonatal AHA / Neonatal AIHA", "ORPHA:398117": "Neonatal dermatomyositis / Neonatal DM", "ORPHA:435564": "Genetic precocious puberty in female", "ORPHA:435561": "Rare precocious puberty in female", "ORPHA:435554": "Genetic precocious puberty", "ORPHA:435609": "Genetic larynx anomaly", "ORPHA:435606": "Genetic nose and cavum anomaly", "ORPHA:435603": "Genetic otorhinolaryngological malformation", "ORPHA:435623": "OBSOLETE: Adactyly of foot / OBSOLETE: Congenital absence of toes", "ORPHA:435612": "Genetic tracheal anomaly", "ORPHA:435743": "Congenital urachal anomaly", "ORPHA:435808": "OBSOLETE: ACAN-related skeletal dysplasia", "ORPHA:435845": "Lethal neonatal spasticity-epileptic encephalopathy syndrome / Lethal neonatal rigidity-multifocal seizure syndrome", "ORPHA:435930": "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "ORPHA:435819": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation / CMT2 due to TFG mutation", "ORPHA:435953": "Progeroid features-hepatocellular carcinoma predisposition syndrome / Ruijs-Aalfs syndrome", "ORPHA:435988": "Chronic atrial and intestinal dysrhythmia syndrome / CAID syndrome / Chronic atrial dysrhythmia-intestinal motility disorder", "ORPHA:435998": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D / RI-CMT type D", "ORPHA:436159": "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency / ALPS due to CTLA4 haploinsuffiency / CHAI / CTLA-4 haploinsufficiency with autoimmune infiltration disease", "ORPHA:436151": "OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome / OBSOLETE: Intellectual disability-loss of expressive language-facial dysmorphism syndrome", "ORPHA:436169": "Thrombomodulin-related bleeding disorder / THBD-related bleeding disorder / THBD-related coagulopathy / Thrombomodulin-related coagulopathy", "ORPHA:436166": "Periodic fever-infantile enterocolitis-autoinflammatory syndrome / NLRC4-related MAS / NLRC4-related autoinflammatory syndrome with MAS / NLRC4-related autoinflammatory syndrome with macrophage activation syndrome / NLRC4-related infantile enterocolitis-autoinflammatory syndrome / NLRC4-related macrophage activation syndrome", "ORPHA:436242": "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease", "ORPHA:437552": "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity / Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity / CD16 deficiency", "ORPHA:438159": "STAT3-related early-onset multisystem autoimmune disease", "ORPHA:438117": "Steel syndrome / Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome", "ORPHA:438075": "Ketoacidosis due to monocarboxylate transporter-1 deficiency", "ORPHA:438072": "Disorder of keton body transport", "ORPHA:438279": "Human infection by orthopoxvirus", "ORPHA:438266": "Progressive encephalomyelitis with rigidity and myoclonus / PERM", "ORPHA:438213": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "ORPHA:438207": "Severe autosomal recessive macrothrombocytopenia", "ORPHA:439224": "ALECT2 amyloidosis / Leukocyte chemotactic factor-2 amyloidosis", "ORPHA:439212": "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome / EMARDD", "ORPHA:439196": "Zinc-responsive necrolytic acral erythema / NAE / Necrolytic acral erythema", "ORPHA:439202": "Non-recovering obstetric brachial plexus lesion / Chronic obstetric brachial plexus injury / Chronic obstetric brachial plexus palsy / Non-recovering OBPI / Non-recovering OBPL", "ORPHA:439175": "Pediatric arterial ischemic stroke / Childhood AIS / Childhood arterial ischemic stroke / Pediatric AIS", "ORPHA:439762": "Systemic polyarteritis nodosa / Systemic PAN / Systemic periarteritis nodosa", "ORPHA:439822": "PDE4D haploinsufficiency syndrome", "ORPHA:439746": "Secondary polyarteritis nodosa / Secondary PAN / Secondary periarteritis nodosa", "ORPHA:439755": "Single-organ polyarteritis nodosa / Single-organ PAN / Single-organ periarteritis nodosa", "ORPHA:439729": "Cutaneous polyarteritis nodosa / Cutaneous PAN / Cutaneous periarteritis nodosa", "ORPHA:439737": "Primary polyarteritis nodosa / Primary PAN / Primary periarteritis nodosa", "ORPHA:439246": "ABeta2M amyloidosis / Beta2-microglobulinic amyloidosis", "ORPHA:439254": "ITM2B amyloidosis / Familial cerebral amyloid angiopathy / ITM2B-related amyloidosis / ITM2B-related cerebral amyloid angiopathy", "ORPHA:440221": "Congenital oculomotor nerve palsy / Congenital CNIII lesion / Congenital third cranial nerve palsy", "ORPHA:440233": "Congenital abducens nerve palsy / Benign congenital sixth cranial nerve palsy / Congenital CNVI palsy", "ORPHA:439854": "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease / Fatal congenital hypertrophic cardiomyopathy due to GSD / Fatal congenital hypertrophic cardiomyopathy due to glycogenosis", "ORPHA:439849": "Autosomal recessive severe congenital neutropenia", "ORPHA:439897": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome", "ORPHA:439881": "Plastic bronchitis / Croupous bronchitis / Fibrinous bronchitis / Pseudo-membranous bronchitis", "ORPHA:440402": "Interstitial lung disease due to ABCA3 deficiency / Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency", "ORPHA:440392": "Interstitial lung disease due to SP-C deficiency / Interstitial lung disease due to surfactant protein C deficiency", "ORPHA:440368": "Necrotizing soft tissue infection / NSTI", "ORPHA:440724": "Extensive peripapillary myelinated nerve fibers", "ORPHA:440731": "L-ferritin deficiency", "ORPHA:440427": "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency / Hereditary pulmonary alveolar proteinosis with hepatic involvement / Interstitial lung and liver disease / PAP, Reunion island type / Pulmonary alveolar proteinosis, Reunion island type", "ORPHA:440701": "Disorders of pentose/polyol metabolism", "ORPHA:440706": "Ribose-5-P isomerase deficiency", "ORPHA:441434": "Syndromic hereditary optic neuropathy", "ORPHA:441447": "Early-onset posterior subcapsular cataract", "ORPHA:441452": "Early-onset lamellar cataract", "ORPHA:440987": "Isolated agenesis of gallbladder", "ORPHA:441344": "OBSOLETE: Autosomal recessive optic atrophy, OPA9 type", "ORPHA:443057": "Sporadic porphyria cutanea tarda / Porphyria cutanea tarda type I", "ORPHA:443062": "Familial porphyria cutanea tarda / Porphyria cutanea tarda type II", "ORPHA:443079": "Central serous chorioretinopathy / CSCR", "ORPHA:443084": "Baroreflex failure", "ORPHA:443070": "Hemicrania continua", "ORPHA:443073": "Charcot-Marie-Tooth disease type 2S / CMT2S", "ORPHA:442582": "AH amyloidosis / Heavy chain amyloidosis", "ORPHA:3276": "Disorder of plasmalogens biosynthesis", "ORPHA:443197": "X-linked erythropoietic protoporphyria / X-linked dominant erythropoietic protoporphyria / X-linked dominant protoporphyria / XLDPP / XLPP", "ORPHA:443192": "Classic stiff person syndrome / Classic SMS / Classic SPS / Classic stiff man syndrome", "ORPHA:595": "Centronuclear myopathy / CNM", "ORPHA:443180": "Spontaneous intracranial hypotension / Spontaneous cerebrospinal fluid leak", "ORPHA:413": "NON RARE IN EUROPE: Hyperlipoproteinemia type 4 / NON RARE IN EUROPE: Familial hypertriglyceridemia / NON RARE IN EUROPE: HLP type 4", "ORPHA:443173": "Postpartum psychosis / Puerperal psychosis", "ORPHA:426": "NON RARE IN EUROPE: Familial hypobetalipoproteinemia", "ORPHA:443291": "HIV-associated cancer / HIV-related cancer", "ORPHA:443287": "OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor", "ORPHA:443236": "Postural orthostatic tachycardia syndrome due to NET deficiency / Familial orthostatic tachycardia due to norepinephrine transporter deficiency / Orthostatic intolerance due to NET deficiency / POTS due to NET deficiency", "ORPHA:854": "Non-malignant and non-cirrhotic portal vein thrombosis / Non-cirrhotic and non-tumoral portal vein thrombosis / Non-malignant non-cirrhotic PVT", "ORPHA:443227": "Paratyphoid fever", "ORPHA:443098": "Hyperostosis cranialis interna", "ORPHA:443095": "Hyperinsulinemic hypoglycaemia", "ORPHA:443090": "46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect / 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect", "ORPHA:443087": "46,XY difference of sex development due to testicular 17,20-desmolase deficiency / 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency", "ORPHA:443162": "NDE1-related microhydranencephaly / MHAC", "ORPHA:443159": "Lymphoplasmacytic lymphoma without IgM production / Lymphoplasmacytic lymphoma without Immunoglobulin M production", "ORPHA:443101": "Hypothalamic adipsic hypernatraemia syndrome", "ORPHA:443325": "OBSOLETE: HIV-related Non-Hodgkin lymphoma", "ORPHA:443328": "OBSOLETE: HIV-related Kaposi sarcoma", "ORPHA:443804": "Focal stiff limb syndrome / Focal stiff-person syndrome / Stiff leg syndrome", "ORPHA:443909": "Hereditary nonpolyposis colon cancer / Familial nonpolyposis colon cancer / Familial nonpolyposis colorectal cancer / HNPCC / Hereditary nonpolyposis colorectal cancer", "ORPHA:443950": "DNAJB2-related Charcot-Marie-Tooth disease type 2 / DNAJB2-related CMT2", "ORPHA:443988": "Ventriculomegaly-cystic kidney disease / Congenital nephrosis-cerebral ventriculomegaly syndrome / VMCKD", "ORPHA:443301": "OBSOLETE: HIV-related lung cancer", "ORPHA:443304": "OBSOLETE: HIV-related oropharyngeal cancer", "ORPHA:443307": "OBSOLETE: HIV-related anal cancer", "ORPHA:443310": "OBSOLETE: HIV-related hepatocellular carcinoma", "ORPHA:443313": "OBSOLETE: HIV-related penile cancer", "ORPHA:443316": "OBSOLETE: HIV-related Hodgkin lymphoma", "ORPHA:443319": "OBSOLETE: HIV-related vulvovaginal cancer", "ORPHA:443322": "OBSOLETE: HIV-related cervical cancer", "ORPHA:444092": "Autoimmune interstitial lung disease-arthritis syndrome / COPA syndrome", "ORPHA:444116": "Hereditary amyloidosis", "ORPHA:444138": "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome / PLACK syndrome", "ORPHA:443995": "Mandibulofacial dysostosis with alopecia / MFDA", "ORPHA:444048": "46,XX ovarian dysgenesis-short stature syndrome", "ORPHA:444069": "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome", "ORPHA:444316": "Idiopathic phalangeal acro-osteolysis / Idiopathic phalangeal acroosteolysis", "ORPHA:444458": "Combined oxidative phosphorylation defect type 24 / COXPD24", "ORPHA:445110": "Limb-girdle muscular dystrophy due to POMK deficiency / LGMD due to POMK deficiency", "ORPHA:445018": "Combined immunodeficiency due to LRBA deficiency / CID due to LRBA deficiency", "ORPHA:444941": "Caudal regression-sirenomelia spectrum", "ORPHA:444916": "Pseudohypoaldosteronism", "ORPHA:447731": "NIK deficiency / Primary immunodeficiency with multifaceted aberrant lymphoid immunity", "ORPHA:447737": "Combined immunodeficiency due to DOCK2 deficiency / CID due to DOCK2 deficiency / Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency", "ORPHA:447740": "Aggressive periodontitis / AgP / Juvenile periodontitis / Susceptibility to localized juvenile periodontitis", "ORPHA:445197": "Secondary vasculitis", "ORPHA:447881": "Idiopathic dropped head syndrome / Isolated neck extensor myopathy", "ORPHA:447893": "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome", "ORPHA:447792": "OBSOLETE: Hemochromatosis type 5", "ORPHA:447788": "Cerebral visual impairment / Cortical visual impairment", "ORPHA:447874": "Biological anomaly without phenotypic characterization", "ORPHA:447795": "Lipoyl transferase 2 deficiency", "ORPHA:447774": "Secondary sclerosing cholangitis", "ORPHA:447771": "Sclerosing cholangitis", "ORPHA:447784": "Mitochondrial pyruvate carrier deficiency", "ORPHA:447777": "Keratocystic odontogenic tumor / KTOC / Odontogenic keratocystoma", "ORPHA:447764": "IgG4-related sclerosing cholangitis", "ORPHA:412181": "Epidermolysis bullosa simplex due to BP230 deficiency / DST-related epidermolysis bullosa simplex / EBS due to BP230 deficiency", "ORPHA:412189": "Epidermolysis bullosa simplex due to exophilin 5 deficiency / EBS due to exophilin 5 deficiency", "ORPHA:412206": "Primary failure of tooth eruption / PFE / Primary retention of teeth", "ORPHA:412220": "OBSOLETE: Ramsay Hunt syndrome type II", "ORPHA:418959": "Squamous cell carcinoma of the stomach / Gastric squamous cell carcinoma", "ORPHA:418945": "Carcinoma of esophagus, salivary gland type / Esophageal carcinoma, salivary gland type", "ORPHA:418951": "Undifferentiated carcinoma of esophagus / Undifferentiated esophageal carcinoma", "ORPHA:420259": "Secondary pulmonary alveolar proteinosis / Secondary PAP", "ORPHA:414726": "Genetic facial cleft / Genetic craniofacial cleft", "ORPHA:415675": "OBSOLETE: Small pox / OBSOLETE: Variola", "ORPHA:415300": "NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy / NON RARE IN EUROPE: NAION", "ORPHA:415286": "Bilirubin encephalopathy / Kernicterus", "ORPHA:415268": "NON RARE IN EUROPE: Adenocarcinoma of the lung", "ORPHA:415687": "NON RARE IN EUROPE: Sudden infant death syndrome / NON RARE IN EUROPE: SIDS", "ORPHA:420755": "Rare genetic odontal or periodontal disorder", "ORPHA:420789": "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea / Anti-IgLON5 disease / Anti-IgLON5 syndrome", "ORPHA:420702": "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency", "ORPHA:420728": "Combined oxidative phosphorylation defect type 20 / COXPD20", "ORPHA:420733": "Combined oxidative phosphorylation defect type 21 / COXPD21", "ORPHA:420556": "Visual snow syndrome", "ORPHA:420402": "Semicircular canal dehiscence syndrome / SCD syndrome", "ORPHA:420429": "Glycogen storage disease due to acid maltase deficiency, late-onset / Alpha-1,4-glucosidase acid deficiency, late-onset / GSD due to acid maltase deficiency, late-onset / GSD type 2, late-onset / GSD type II, late-onset / Glycogen storage disease type 2, late-onset / Glycogen storage disease type II, late-onset / Glycogenosis type 2, late-onset / Glycogenosis type II, late-onset / Pompe disease, late-onset", "ORPHA:420611": "Transient myeloproliferative syndrome / Transient abnormal myelopoiesis / Transient myeloproliferative disease", "ORPHA:420584": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome / Culler-Jones syndrome", "ORPHA:420699": "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency", "ORPHA:420686": "Woolly hair-palmoplantar keratoderma syndrome / KWWH type IV / Keratoderma with woolly hair type IV / Woolly hair-palmoplantar hyperkeratosis syndrome", "ORPHA:420573": "Severe combined immunodeficiency due to CTPS1 deficiency / SCID due to CTPS1 deficiency", "ORPHA:420566": "Bleeding disorder due to CalDAG-GEFI deficiency / Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency", "ORPHA:423461": "Mucolipidosis type III alpha/beta / ML 3 alpha/beta / ML III alpha/beta / Mucolipidosis type 3 alpha/beta", "ORPHA:423470": "Mucolipidosis type III gamma / ML 3 gamma / ML III gamma / Mucolipidosis type 3 gamma", "ORPHA:423454": "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome / Ectodermal dysplasia-short stature syndrome / Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome", "ORPHA:423384": "Severe congenital neutropenia due to JAGN1 deficiency / SCN due to JAGN1 deficiency / Severe congenital neutropenia due to jagunal homolog 1 deficiency", "ORPHA:423306": "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome", "ORPHA:423717": "Cutaneous larva migrans", "ORPHA:423771": "Rare carcinoma of stomach / Rare gastric carcinoma", "ORPHA:423693": "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect / DORV with subaortic or doubly committed VSD", "ORPHA:423712": "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy / DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy", "ORPHA:423662": "Rare autonomic nervous system disorder", "ORPHA:423668": "NON RARE IN EUROPE: Cortisol-producing adrenal tumor", "ORPHA:423655": "ARX-related encephalopathy-brain malformation spectrum", "ORPHA:422526": "Hereditary clear cell renal cell carcinoma / Hereditary clear cell renal cell adenocarcinoma", "ORPHA:422519": "OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency / OBSOLETE: PHGDH deficiency", "ORPHA:424065": "Solid pseudopapillary carcinoma of pancreas / Pancreatic solid pseudopapillary carcinoma / Solid pseudopapillary neoplasm of the pancreas", "ORPHA:424058": "Intraductal papillary mucinous carcinoma of pancreas / IPMN / Pancreatic intraductal papillary mucinous carcinoma", "ORPHA:424080": "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas / OGCT of pancreas / Osteoclastic giant cell tumor of pancreas / Pancreatic osteoclastic giant cell tumor / Pancreatic undifferentiated carcinoma with osteoclast-like giant cells / Undifferentiated carcinoma of pancreas with osteoclast-like giant cells", "ORPHA:424073": "Serous cystadenocarcinoma of pancreas / Pancreatic serous cystadenocarcinoma", "ORPHA:424099": "Colobomatous microphthalmia-rhizomelic dysplasia syndrome / Microphthalmia-coloboma-rhizomelic skeletal dysplasia", "ORPHA:424925": "Qualitative or quantitative defects of Torsin-1A-interacting protein 1", "ORPHA:424261": "TOR1AIP1-related limb-girdle muscular dystrophy / Autosomal recessive limb-girdle muscular dystrophy type 2Y / Autosomal recessive muscular dystrophy due to LAP1B deficiency / Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency / LGMD type 2Y / LGMD2Y / Muscular dystrophy with progressive weakness, distal contractures and rigid spine / TOR1AIP1-related LGMD", "ORPHA:424013": "Carcinoma of the anal canal", "ORPHA:424027": "Progressive myoclonic epilepsy type 8 / EPM8 / PME type 8 / Progressive myoclonic epilepsy due to CERS1 deficiency / Progressive myoclonus epilepsy type 8", "ORPHA:424039": "Squamous cell carcinoma of pancreas / Pancreatic squamous cell carcinoma", "ORPHA:424033": "Rare epithelial tumor of pancreas / Rare pancreatic epithelial tumor", "ORPHA:424053": "Mucinous cystadenocarcinoma of the pancreas / Pancreatic mucinous cystadenocarcinoma", "ORPHA:424046": "Acinar cell carcinoma of pancreas / Pancreatic acinar cell carcinoma", "ORPHA:423968": "Squamous cell carcinoma of the small intestine / Squamous cell carcinoma of the small bowel", "ORPHA:423975": "Neuroendocrine tumor of the small intestine / NET of the small intestine / Neuroendocrine neoplasm of the small intestine / Neuroendocrine tumor of small bowel", "ORPHA:423982": "Epithelial tumor of the appendix / Appendiceal epithelial tumor", "ORPHA:423991": "Rare epithelial tumor of colon", "ORPHA:423994": "Squamous cell carcinoma of the colon", "ORPHA:423998": "Rare epithelial tumor of rectum / Rare rectal epithelial tumor", "ORPHA:424002": "Squamous cell carcinoma of the rectum / Rectal squamous cell carcinoma", "ORPHA:424010": "Epithelial tumor of anal canal", "ORPHA:423776": "Hereditary gastric cancer / Hereditary cancer of stomach", "ORPHA:423781": "OBSOLETE: Carcinoma of stomach, salivary gland type / OBSOLETE: Gastric carcinoma, salivary gland type", "ORPHA:423786": "Undifferentiated carcinoma of stomach / Undifferentiated gastric carcinoma", "ORPHA:423793": "Rare tumor of small intestine / Rare tumor of small bowel", "ORPHA:423798": "Mesenchymal tumor of small intestine / Mesenchymal tumor of small bowel", "ORPHA:423894": "Microcephaly-complex motor and sensory axonal neuropathy syndrome", "ORPHA:423957": "Rare carcinoma of small intestine / Rare carcinoma of small bowel", "ORPHA:431140": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome / X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome", "ORPHA:425368": "Rare epithelial tumor of small intestine / Rare epithelial tumor of small bowel", "ORPHA:425003": "Inherited digestive cancer-predisposing syndrome", "ORPHA:425120": "STING-associated vasculopathy with onset in infancy / SAVI", "ORPHA:424943": "Adenocarcinoma of the liver and intrahepatic biliary tract / Adenocarcinoma of the liver and IBT", "ORPHA:424970": "Undifferentiated carcinoma of liver and intrahepatic biliary tract / Undifferentiated carcinoma of liver and IBT", "ORPHA:424933": "Rare malignant epithelial tumor of liver and intrahepatic biliary tract / Rare malignant epithelial tumor of liver and IBT", "ORPHA:424936": "Carcinoma of liver and intrahepatic biliary tract / Carcinoma of liver and IBT", "ORPHA:424991": "Adenocarcinoma of the gallbladder and extrahepatic biliary tract / Adenocarcinoma of the gallbladder and EBT", "ORPHA:424996": "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract / Squamous cell carcinoma of gallblader and EBT", "ORPHA:424975": "Squamous cell carcinoma of liver and intrahepatic biliary tract / Squamous cell carcinoma of liver and IBT", "ORPHA:424982": "Biliary cystadenocarcinoma / Intrahepatic bile duct cystadenocarcinoma", "ORPHA:431353": "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis", "ORPHA:431341": "Patent urachus", "ORPHA:431344": "Urachal sinus", "ORPHA:431347": "Urachal diverticulum / Vesicourachal diverticulum", "ORPHA:431272": "X-linked scapuloperoneal muscular dystrophy / X-linked SPMD / X-linked scapuloperoneal syndrome", "ORPHA:431320": "Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder / SPOAN and SPOAN-related disorder", "ORPHA:431255": "Scapuloperoneal spinal muscular atrophy / Neurogenic scapuloperoneal amyotrophy, New England type / SPSMA / Scapuloperoneal neuronopathy", "ORPHA:431263": "Late-onset scapuloperoneal muscular dystrophy with hyaline bodies / Late-onset SPMD with hyaline bodies / Late-onset scapuloperoneal syndrome, myopathic type", "ORPHA:431149": "Combined immunodeficiency due to OX40 deficiency / Combined immunodeficiency with childhood-onset Kaposi sarcoma / Combined immunodeficiency with impaired immunity to HHV-8 / Combined immunodeficiency with impaired immunity to human herpes virus 8", "ORPHA:431156": "Primary immunodeficiency with predisposition to severe viral infection", "ORPHA:431166": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection / Primary immunodeficiency with post-MMR vaccine viral infection", "ORPHA:435438": "Progressive myoclonic epilepsy type 7 / EPM7 / MEAK / Myoclonus epilepsy and ataxia due to potassium channel mutation / PME type 7 / Progressive myoclonic epilepsy due to KV3.1 deficiency / Progressive myoclonus epilepsy type 7", "ORPHA:435372": "Anterior urethral valve", "ORPHA:435365": "Fetal lower urinary tract obstruction / LUTO", "ORPHA:435329": "Familial ossifying fibroma / Familial Gigantiform cementoma / Multiple ossifying fibroma", "ORPHA:434809": "Syndrome with woolly hair", "ORPHA:434786": "Rare genetic autonomic nervous system disorder", "ORPHA:504523": "Severe combined immunodeficiency due to LAT deficiency / SCID due to LAT deficiency", "ORPHA:504530": "Combined immunodeficiency due to Moesin deficiency / CID due to Moesin deficiency / MSN-related combined immunodeficiency / X-linked Moesin-associated immunodeficiency", "ORPHA:26823": "NON RARE IN EUROPE: Pigment-dispersion syndrome", "ORPHA:28455": "OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus", "ORPHA:725": "Developmental and epileptic encephalopathy with spike-wave activation in sleep / CSWS / CSWSS syndrome / Continuous spikes and waves during sleep / Continuous spikes and waves during slow-wave sleep / DEE-SWAS / Epileptic encephalopathy with continuous spike-and-wave during slow sleep / Epileptic encephalopathy with spike-and wave activation in sleep", "ORPHA:756": "Pseudohypoaldosteronism type 1 / PHA type 1 / PHA1", "ORPHA:162": "Congenital cataract-anterior segment dysgenesis syndrome / Congenital cataract-ASD syndrome / Congenital cataract-ASGD syndrome / Congenital cataract-ASMD syndrome / Congenital cataract-anterior segment mesenchymal dysgenesis syndrome", "ORPHA:544": "Diffuse large B-cell lymphoma / DLBCL", "ORPHA:748": "Mendelian susceptibility to mycobacterial diseases / Idiopathic infection caused by BCG or atypical mycobacteria / MSMD / Mendelian susceptibility to atypical mycobacteria / Mendelian susceptibility to mycobacterial infections", "ORPHA:25980": "X-linked myopathy with excessive autophagy / XMEA", "ORPHA:26106": "Hereditary diffuse gastric cancer / FDGC / Familial diffuse cancer of stomach / Familial diffuse gastric cancer / HDGC / Hereditary diffuse cancer of stomach / Hereditary diffuse gastric adenocarcinoma", "ORPHA:505395": "Ventilator-induced diaphragmatic dysfunction / VIDD", "ORPHA:807": "Sebastian syndrome / Macrothrombocytopenia with leukocyte inclusions", "ORPHA:26348": "Acquired prothrombin deficiency / Acquired hypoprothrombinemia", "ORPHA:26349": "Protein S acquired deficiency", "ORPHA:620": "NON RARE IN EUROPE: Common mesentery / NON RARE IN EUROPE: Universal mesentery", "ORPHA:831": "Congenital cervical spinal stenosis / Congenital narrowing of cervical spinal canal / Congenital stenosis of the cervical spine", "ORPHA:674": "Accessory pancreas", "ORPHA:386": "Hepatic cystic hamartoma / Biliary hamartoma / MHL / Mesenchymal hamartoma of liver / VMC / Von Meyenburg complexes disease", "ORPHA:264": "Autosomal dominant limb-girdle muscular dystrophy type 1B / LGMD1B / Limb-girdle muscular dystrophy due to lamin A/C deficiency", "ORPHA:505227": "Combined immunodeficiency due to GINS1 deficiency / CID due to GINS1 deficiency / Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia / Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia", "ORPHA:505208": "3-methylglutaconic aciduria type 8 / MGA8", "ORPHA:265": "Autosomal dominant limb-girdle muscular dystrophy type 1C / LGMD1C / Limb-girdle muscular dystrophy due to caveolin-3 deficiency", "ORPHA:278": "OBSOLETE: Corticobasal degeneration", "ORPHA:263": "Limb-girdle muscular dystrophy / LGMD", "ORPHA:505242": "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome / Cerebrorenal syndrome, Perez type", "ORPHA:508533": "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome / EXTL3-related neuro-immuno-skeletal dysplasia syndrome / Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency", "ORPHA:508542": "Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome / MYSM1 deficiency", "ORPHA:508512": "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome", "ORPHA:508529": "Intermediate epidermolysis bullosa simplex with cardiomyopathy / Intermediate EBS with cardiomyopathy", "ORPHA:508523": "Hyperphenylalaninemia due to DNAJC12 deficiency / Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia", "ORPHA:508476": "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome / Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome / Hyaluronidase 2 deficiency", "ORPHA:508501": "Oral-facial-digital syndrome with short stature and brachymesophalangy / OFD18 / Oral-facial-digital syndrome type 18 / Orofaciodigital syndrome type 18", "ORPHA:508498": "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome / Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene", "ORPHA:506784": "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome / SJS/TEN overlap syndrome / Stevens-Johnson/TEN overlap syndrome / Stevens-Johnson/toxic epidermal necrolysis overlap syndrome", "ORPHA:506334": "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency / Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency / SPLIS / Sphingosine phosphate lyase insufficiency syndrome", "ORPHA:506307": "Stromme syndrome / Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome / Jejunal atresia-microcephaly-ocular anomalies syndrome", "ORPHA:506216": "Rare disorder potentially indicated for bowel transplant", "ORPHA:506219": "Rare disorder potentially indicated for hematopoietic stem cell transplant", "ORPHA:506222": "Rare disorder potentially indicated for lung transplant", "ORPHA:506225": "Rare disorder potentially indicated for heart transplant", "ORPHA:506136": "Neuroendocrine neoplasm of esophagus / Esophageal NEN / Esophageal neuroendocrine neoplasm / NEN of esophagus", "ORPHA:506207": "Rare disorder potentially indicated for transplant", "ORPHA:506210": "Rare disorder potentially indicated for liver transplant", "ORPHA:506213": "Rare disorder potentially indicated for kidney transplant", "ORPHA:506090": "Serotonin-producing neuroendocrine tumor of pancreas / Serotonin-producing PNET / Serotonin-producing pancreatic NET / Serotonin-producing pancreatic neuroendocrine tumor", "ORPHA:506098": "Neuroendocrine carcinoma of pancreas / Pancreatic NEC / Pancreatic neuroendocrine carcinoma / Poorly-differentiated NEN of pancreas / Poorly-differentiated neuroendocrine neoplasm of pancreas / Poorly-differentiated pancreatic NEN / Poorly-differentiated pancreatic neuroendocrine neoplasm", "ORPHA:506112": "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas / MiNEN of pancreas / Pancreatic MiNEN / Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm", "ORPHA:506124": "OBSOLETE: Neuroendocrine tumor of small intestine / OBSOLETE: NET of small intestine", "ORPHA:506052": "Neuroendocrine neoplasm of pancreas / PNEN / Pancreatic NEN / Pancreatic neuroendocrine neoplasm", "ORPHA:506060": "Functioning neuroendocrine tumor of pancreas / Functioning PNET / Functioning pancreatic NET / Functioning pancreatic neuroendocrine tumor / Functioning well-differentiated NEN of pancreas / Functioning well-differentiated neuroendocrine neoplasm of pancreas / Functioning well-differentiated pancreatic NEN / Functioning well-differentiated pancreatic neuroendocrine neoplasm", "ORPHA:506075": "Non-functioning neuroendocrine tumor of pancreas / Non-functioning PNET / Non-functioning pancreatic NET / Non-functioning pancreatic neuroendocrine tumor / Non-functioning well-differentiated NEN of pancreas / Non-functioning well-differentiated neuroendocrine neoplasm of pancreas / Non-functioning well-differentiated pancreatic NEN / Non-functioning well-differentiated pancreatic neuroendocrine neoplasm", "ORPHA:495274": "Charcot-Marie-Tooth disease type 2T / AR-CMT2T / Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T", "ORPHA:495844": "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy / C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy / Hypomyelinating leukodystrophy due to hikeshi deficiency", "ORPHA:495818": "9q33.3q34.11 microdeletion syndrome / Del(9)(q33.3q34.11) / Deletion 9q33.3q34.11 / Monosomy 9q33.3q34.11", "ORPHA:495879": "Congenital agenesis of the scrotum / Congenital absence of the scrotum / Congenital scrotal absence / Congenital scrotal agenesis", "ORPHA:495875": "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome / Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome", "ORPHA:495930": "Familial monosomy 7 syndrome", "ORPHA:496686": "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome", "ORPHA:496693": "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome / Gershoni-Baruch syndrome", "ORPHA:496751": "EVEN-plus syndrome / Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome", "ORPHA:494433": "MIRAGE syndrome / Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome / Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome", "ORPHA:494439": "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome / Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome", "ORPHA:494424": "Extracranial carotid artery aneurysm / ECAA / ECCA", "ORPHA:494428": "Idiopathic pleuroparenchymal fibroelastosis / IPPFE / Idiopathic pleuropulmonary fibroelastosis", "ORPHA:494451": "Vulvar basal cell carcinoma / Basal cell carcinoma of vulva", "ORPHA:494454": "Vulvar adenocarcinoma / Adenocarcinoma of the vulva", "ORPHA:494444": "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome / DIAPH1-related sensorineural deafness-thrombocytopenia syndrome", "ORPHA:494448": "Vulvar squamous cell carcinoma / Squamous cell carcinoma of the vulva", "ORPHA:494344": "RERE-related neurodevelopmental syndrome", "ORPHA:494418": "Vulvar carcinoma / Carcinoma of vulva", "ORPHA:494421": "Sacrococcygeal teratoma", "ORPHA:494348": "Early-onset familial noncirrhotic portal hypertension", "ORPHA:494547": "Squamous cell carcinoma of the hypopharynx", "ORPHA:494457": "Rare hyperkinetic movement disorder", "ORPHA:494550": "Squamous cell carcinoma of the larynx", "ORPHA:500188": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome", "ORPHA:68": "Amoebiasis due to free-living amoebae", "ORPHA:781": "Q fever / Coxiellosis / Infection due to Coxiella burnetii / Nine Mile fever / Quadrilateral fever / Query fever", "ORPHA:500163": "Witteveen-Kolk syndrome / SIN3A-related intellectual disability syndrome / WITKOS", "ORPHA:297": "Tick-borne encephalitis / TBE", "ORPHA:500166": "SIN3-related intellectual disability syndrome due to a point mutation", "ORPHA:182": "Chromomycosis / Chromoblastomycosis", "ORPHA:128": "Diphyllobothriasis / Bothriocephalosis", "ORPHA:283": "Demodicidosis / Demodicosis", "ORPHA:210": "Cyclosporiasis", "ORPHA:76": "Strongyloidiasis / Anguilluliasis / Anguillulosis", "ORPHA:74": "Angiostrongyliasis", "ORPHA:78": "Ankylostomiasis / Ancylostomiasis / Hookworm infection", "ORPHA:500135": "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome / MARCH syndrome", "ORPHA:500062": "Infantile-onset periodic fever-panniculitis-dermatosis syndrome / ORAS / OTULIN deficiency / OTULIN-related autoinflammatory syndrome / Otulipenia", "ORPHA:898": "Wagner disease / Dominant hyaloideoretinal dystrophy of Wagner / VCAN-related vitreoretinopathy / Vitreoretinal degeneration, Wagner type / Wagner syndrome", "ORPHA:500478": "Squamous cell carcinoma of the oropharynx", "ORPHA:518": "Acute megakaryoblastic leukemia / AMKL / AML M7 / Acute megakaryocytic leukemia / Acute myeloid leukemia M7", "ORPHA:500481": "OBSOLETE: Squamous cell carcinoma of salivary glands", "ORPHA:500548": "Osteosclerotic metaphyseal dysplasia", "ORPHA:591": "Furuncular myiasis / Furunculoid myiasis / Furunculous myiasis", "ORPHA:723": "Pneumocystosis", "ORPHA:472": "Isosporiasis / Cystoisosporiasis", "ORPHA:504": "Creeping myiasis / Migratory myiasis", "ORPHA:401": "Hymenolepiasis", "ORPHA:430": "OBSOLETE: Hypodermyiasis", "ORPHA:390": "Histoplasmosis / Darling disease", "ORPHA:400": "Cystic echinococcosis / Hydatid cyst / Hydatid disease / Hydatidosis", "ORPHA:500464": "Squamous cell carcinoma of the nasal cavity and paranasal sinuses / Squamous cell carcinoma of the nasal cavity and sinuses", "ORPHA:450": "Heterotaxia / Heterotaxy syndrome / Lateralization defect / Visceral heterotaxy", "ORPHA:224": "Neonatal diabetes mellitus / Congenital diabetes mellitus / Diabetes of infancy / NDM", "ORPHA:826": "Sporotrichosis", "ORPHA:879": "Tungiasis", "ORPHA:502305": "Cochleovestibular malformation", "ORPHA:502318": "Cochlear nerve deficiency", "ORPHA:502363": "Squamous cell carcinoma of the oral cavity", "ORPHA:502366": "Squamous cell carcinoma of the lip", "ORPHA:502369": "Squamous cell carcinoma of oral cavity and lip", "ORPHA:502430": "Weiss-Kruszka Syndrome / Metopic ridging-ptosis-facial dysmorphism syndrome", "ORPHA:502437": "4q25 proximal deletion syndrome / Proximal del(4)(q25) / Proximal monosomy 4q25", "ORPHA:502499": "Erythema multiforme major / Erythema exsudativum multiforme majus / Erythema multiforme majus", "ORPHA:502444": "Alkaline ceramidase 3 deficiency / ACER3-related early childhood-onset progressive leukodystrophy / Leukodystrophy due to alkaline ceramidase 3 deficiency", "ORPHA:625": "NON RARE IN EUROPE: Atypical mole / NON RARE IN EUROPE: Clark nevus / NON RARE IN EUROPE: Dysplastic nevus", "ORPHA:553": "OBSOLETE: Cushing syndrome / OBSOLETE: Hyperadrenocorticism / OBSOLETE: Hypercortisolism", "ORPHA:817": "Peeling skin syndrome / Deciduous skin / Familial continuous skin peeling syndrome / Idiopathic deciduous skin / Keratosis exfoliativa congenita / PSS / Peeling skin disease", "ORPHA:830": "NON RARE IN EUROPE: Stuccokeratosis", "ORPHA:497906": "Childhood-onset basal ganglia degeneration syndrome / Lenk-Ploski syndrome", "ORPHA:736": "Palmoplantar porokeratosis of Mantoux", "ORPHA:497623": "C12ORF65-related combined oxidative phosphorylation defect / C12ORF65-related COXPD", "ORPHA:497737": "Epidermolytic nevus / Epidermal nevus with epidermolytic hyperkeratosis / Epidermolytic epidermal nevus / Epidermolytic verrucous epidermal nevus", "ORPHA:497757": "MME-related autosomal dominant Charcot Marie Tooth disease type 2 / MME-related autosomal dominant CMT2 / MME-related autosomal dominant hereditary motor and sensory neuropathy type 2", "ORPHA:623": "NAME syndrome / Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome", "ORPHA:462": "NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris", "ORPHA:497188": "Diffuse intrinsic pontine glioma / DIPG", "ORPHA:498": "Keratosis pilaris atrophicans", "ORPHA:496916": "Rare genetic hyperkinetic movement disorder", "ORPHA:496924": "Non-inflammatory vasculopathy", "ORPHA:490": "Omphalomesenteric cyst", "ORPHA:498467": "Non-syndromic postaxial polydactyly", "ORPHA:498464": "Non-syndromic preaxial polydactyly", "ORPHA:238": "OBSOLETE: Digestive duplication", "ORPHA:498461": "Non-syndromic terminal transverse limb defect", "ORPHA:488": "Urachal cyst", "ORPHA:498457": "Non-syndromic longitudinal limb defect", "ORPHA:105": "Atresia of urethra / Urethral atresia", "ORPHA:498454": "Dysostosis with brachydactyly with extraskeletal manifestations", "ORPHA:237": "Duplication of urethra", "ORPHA:498451": "Dysostosis with brachydactyly without extraskeletal manifestations", "ORPHA:498448": "Overgrowth or tall stature syndrome with skeletal involvement", "ORPHA:734": "Alpha delta granule deficiency / Alpha dense granule deficiency / Combined alpha-delta platelet storage pool deficiency", "ORPHA:498445": "Genetic inflammatory or rheumatoid-like osteoarthropathy", "ORPHA:749": "Congenital prekallikrein deficiency", "ORPHA:483": "Congenital high-molecular-weight kininogen deficiency", "ORPHA:498359": "Aquagenic palmoplantar keratoderma / Aquagenic keratoderma / Aquagenic syringeal acrokeratoderma / Aquagenic wrinkling of the palms / Transient reactive papulotranslucent acrokeratoderma", "ORPHA:852": "X-linked thrombocytopenia with normal platelets", "ORPHA:498350": "Syndromic biliary atresia", "ORPHA:498345": "Biliary atresia and associated disorders", "ORPHA:310": "Reflex epilepsy", "ORPHA:498251": "Menstrual cycle-dependent periodic fever / Luteal-phase-dependent febrile episode / Luteal-phase-dependent periodic fever / Menstrual cycle-dependent febrile episode", "ORPHA:877": "Neuroendocrine neoplasm", "ORPHA:498228": "Phyllodes tumor of the prostate / Cystic epithelial-stromal tumors of the prostate / Cystosarcoma phyllodes of the prostate / Phyllodes type of atypical prostatic hyperplasia", "ORPHA:467": "Non-acquired combined pituitary hormone deficiency / Congenital combined pituitary hormone deficiency / Congenital hypopituitarism", "ORPHA:463": "NON RARE IN EUROPE: Adrenal incidentaloma", "ORPHA:872": "OBSOLETE: Disorder in the hormonal synthesis with or without goiter", "ORPHA:1676": "Idiopathic pulmonary artery dilatation", "ORPHA:1205": "Mitral atresia", "ORPHA:3192": "Supravalvular pulmonary stenosis", "ORPHA:875": "Primary pediatric heart tumor / Cardiac tumor of child / Heart tumor of child", "ORPHA:499085": "Chronic relapsing inflammatory optic neuritis / CRION", "ORPHA:334": "Familial atrial fibrillation", "ORPHA:498700": "OBSOLETE: Limbic encephalitis with neurexin-3 antibodies", "ORPHA:874": "Primary adult heart tumor / Adult cardiac tumor / Adult heart tumor", "ORPHA:499009": "Congenital syphilis / MTCT of syphilis / Mother-to-child transmission of syphilis", "ORPHA:499004": "OBSOLETE: Tuberculous meningitis", "ORPHA:2452": "OBSOLETE: Vascular malposition", "ORPHA:499047": "Autoimmune/inflammatory optic neuropathy", "ORPHA:1677": "Familial idiopathic dilatation of the right atrium", "ORPHA:498497": "Short rib-polydactyly syndrome type 5", "ORPHA:671": "Primary cutis verticis gyrata", "ORPHA:864": "Trichofolliculoma", "ORPHA:498602": "Sugarman brachydactyly / Sugarman-Hager-Kulik syndrome", "ORPHA:719": "OBSOLETE: Pili canulati", "ORPHA:247": "Inherited arrhythmogenic cardiomyopathy / Arrhythmogenic right ventricular cardiomyopathy", "ORPHA:498693": "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome / MYBPC1-related autosomal recessive non-lethal AMC syndrome", "ORPHA:498470": "Non-syndromic complex polydactyly", "ORPHA:498474": "Hyaline fibromatosis syndrome", "ORPHA:498477": "Ectrodactyly with and without other manifestations", "ORPHA:498481": "LRP5-related primary osteoporosis", "ORPHA:498485": "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome", "ORPHA:498488": "Overgrowth syndrome with 2q37 translocation", "ORPHA:498491": "Non-syndromic complete hemimelia", "ORPHA:498494": "Mirror-image polydactyly", "ORPHA:338": "Familial multiple fibrofolliculoma", "ORPHA:496": "Thost-Unna palmoplantar keratoderma", "ORPHA:39": "Acromelanosis", "ORPHA:435": "OBSOLETE: Ito hypomelanosis / OBSOLETE: HI syndrome / OBSOLETE: Hypomelanosis of Ito / OBSOLETE: Pigmentary mosaicism, Ito type", "ORPHA:658": "Non-histaminic angioedema / Angioneurotic edema / Bradykinine-induced angioedema / Non histamine-induced angioedema", "ORPHA:3282": "Multifocal atrial tachycardia / Chaotic atrial tachycardia / MAT", "ORPHA:303": "Dystrophic epidermolysis bullosa / DEB / Dermolytic epidermolysis bullosa / Epidermolysis bullosa dystrophica", "ORPHA:305": "Junctional epidermolysis bullosa / Epidermolysis bullosa atrophicans / JEB", "ORPHA:499182": "Pilomatrix carcinoma / Calcified epithelial carcinoma of Malherbe / Calcifying epitheliocarcinoma / Malignant pilomatricoma / Trichomatrical carcinoma", "ORPHA:499107": "Idiopathic optic perineuritis / Idiopathic OPN", "ORPHA:499096": "Isolated optic neuritis / ION", "ORPHA:499103": "Recurrent idiopathic neuroretinitis / RINR", "ORPHA:485631": "Congenital bile acid synthesis defect / BASD", "ORPHA:485426": "Isolated congenital hepatic fibrosis / Isolated CHF", "ORPHA:486811": "Prenatal-onset spinal muscular atrophy with congenital bone fractures / SMABF", "ORPHA:485418": "EMILIN-1-related connective tissue disease", "ORPHA:485382": "Rare genetic premature ovarian failure", "ORPHA:485405": "16p12.1p12.3 triplication syndrome / Tetrasomy 16p12.1p12.3 / Trip(16)(p12.1p12.3)", "ORPHA:485358": "Propylthiouracil embryofetopathy / PTU embryofetopathy / PTU embryopathy / Propylthiouracil embryopathy", "ORPHA:485275": "Acquired schizencephaly", "ORPHA:482606": "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome", "ORPHA:482092": "Rare idiopathic macular telangiectasia", "ORPHA:31828": "Digitalis poisoning", "ORPHA:31837": "Pulmonary venoocclusive disease", "ORPHA:31740": "Hypersensitivity pneumonitis / Extrinsic allergic alveolitis", "ORPHA:480556": "Isolated neonatal sclerosing cholangitis", "ORPHA:480553": "Aneurysmal bone cyst", "ORPHA:480549": "Non-severe combined immunodeficiency / Non-SCID", "ORPHA:480541": "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement", "ORPHA:31826": "Ethylene glycol poisoning", "ORPHA:480851": "Hereditary thrombocytopenia with early-onset myelofibrosis", "ORPHA:31827": "Paraquat poisoning", "ORPHA:480773": "OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome", "ORPHA:480701": "Facial diplegia with paresthesias / Facial diplegia with paresthesias variant of GBS / Facial diplegia with paresthesias variant of Guillain-Barré syndrome", "ORPHA:480682": "POGLUT1-related limb-girdle muscular dystrophy R21 / Autosomal recessive limb-girdle muscular dystrophy type 2Z / LGMD type 2Z / LGMD2Z / Limb-girdle muscular dystrophy type 2Z / POGLUT1-related LGMD R21", "ORPHA:31825": "Methanol poisoning", "ORPHA:481665": "USP18 deficiency", "ORPHA:481671": "Type 1 interferonopathy of childhood", "ORPHA:482072": "HTRA1-related cerebral small vessel disease / HTRA1-related cerebral angiopathy", "ORPHA:482077": "HTRA1-related autosomal dominant cerebral small vessel disease / HTRA1-related autosomal dominant cerebral angiopathy", "ORPHA:481771": "Genetic alopecia", "ORPHA:481986": "Familial schizencephaly", "ORPHA:481475": "OBSOLETE: Gastric neuroendocrine tumor type 2 / OBSOLETE: GNET type 2", "ORPHA:481478": "OBSOLETE: Gastric neuroendocrine tumor type 3 / OBSOLETE: GNET type 3", "ORPHA:481469": "OBSOLETE: Gastric neuroendocrine tumor type 1 / OBSOLETE: GNET type 1", "ORPHA:481662": "Familial Chilblain lupus", "ORPHA:481481": "OBSOLETE: Gastric neuroendocrine tumor type 4 / OBSOLETE: GNET type 4", "ORPHA:481508": "Gastroenteric neuroendocrine neoplasm", "ORPHA:480476": "Progressive familial intrahepatic cholestasis type 5 / NR1H4 deficiency / PFIC5", "ORPHA:480491": "MYO5B-related progressive familial intrahepatic cholestasis / MYO5B deficiency", "ORPHA:480483": "Progressive familial intrahepatic cholestasis type 4 / PFIC4 / TJP2 deficit", "ORPHA:480528": "Lethal hydranencephaly-diaphragmatic hernia syndrome", "ORPHA:480524": "Idiopathic peliosis hepatis / Idiopathic peliosis hepatitis", "ORPHA:480531": "Congenital portosystemic shunt / Congenital portosystemic venous fistula", "ORPHA:480506": "Primary intrahepatic lithiasis / PIHL / Primary hepatolithiasis", "ORPHA:480501": "Choledochal cyst / Congenital cystic dilatation of the biliary tract", "ORPHA:480520": "Caroli syndrome", "ORPHA:480512": "Idiopathic ductopenia / IAD / Idiopathic adult ductopenia", "ORPHA:477811": "Rare hypercholesterolemia", "ORPHA:477814": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "ORPHA:477805": "Genetic cardiac malformation", "ORPHA:477808": "Other genetic dermis disorder", "ORPHA:477794": "Syndromic constitutional thrombocytopenia", "ORPHA:477797": "Isolated constitutional thrombocytopenia / Constitutional thrombocytopenia without extra-hematopoietic manifestations / Non-syndromic constitutional thrombocytopenia", "ORPHA:477781": "Primary condylar hyperplasia / Type 1 condylar hyperplasia", "ORPHA:477787": "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder / PLA2G4A-related platelet dysfunction / Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency", "ORPHA:478042": "Combined oxidative phosphorylation defect type 30 / COXPD30", "ORPHA:477857": "Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency / MSMD due to complete RORgamma receptor defiency / Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency / Primary immunodeficiency due to RORC mutation", "ORPHA:477831": "Kosaki overgrowth syndrome / Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome", "ORPHA:478049": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome", "ORPHA:478664": "Hereditary sensory and autonomic neuropathy type 8 / HSAN8 / Hereditary sensory and autonomic neuropathy type VIII", "ORPHA:477647": "Type 1 interferonopathy", "ORPHA:477650": "Fibroblastic rheumatism", "ORPHA:477668": "OBSOLETE: AymÚ-Gripp syndrome", "ORPHA:477661": "IL21-related infantile inflammatory bowel disease / IL21-related infantile IBD", "ORPHA:477684": "Combined oxidative phosphorylation defect type 26 / COXPD26", "ORPHA:477738": "Pediatric multiple sclerosis", "ORPHA:477697": "OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome / OBSOLETE: Familial platelet disorder with predisposition to hematological cancer", "ORPHA:477749": "Pontine autosomal dominant microangiopathy with leukoencephalopathy / PADMAL", "ORPHA:477742": "Nodular fasciitis / Pseudosarcomatous fasciitis / Pseudosarcomatous fibromatosis", "ORPHA:477759": "COL4A1 or COL4A2-related cerebral small vessel disease / COL4A1 or COL4A2-related cerebral angiopathy", "ORPHA:477754": "Genetic cerebral small vessel disease", "ORPHA:477765": "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency / COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency", "ORPHA:477762": "COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency / COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency", "ORPHA:477771": "Rare disorder with a moyamoya angiopathy", "ORPHA:477768": "Moyamoya angiopathy", "ORPHA:476116": "Demyelinating hereditary motor and sensory neuropathy / Demyelinating HMSN", "ORPHA:476119": "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome", "ORPHA:476109": "Axonal hereditary motor and sensory neuropathy / Axonal HMSN", "ORPHA:476113": "Combined immunodeficiency due to TFRC deficiency / CID due to TFRC deficiency / TFRC-related combined immunodeficiency", "ORPHA:476123": "Intermediate Charcot-Marie-Tooth disease / Intermediate CMT / Intermediate hereditary motor and sensory neuropathy", "ORPHA:476406": "Congenital generalized hypercontractile muscle stiffness syndrome", "ORPHA:476394": "PMP2-related Charcot-Marie-Tooth disease type 1 / PMP2-related CMT1 / PMP2-related Charcot-Marie-Tooth neuropathy type 1 / PMP2-related hereditary motor and sensory neuropathy type 1", "ORPHA:476403": "Hypercontractile muscle stiffness syndrome", "ORPHA:493342": "Vibratory urticaria / Vibratory angioedema/urticaria", "ORPHA:493348": "OBSOLETE: Vibratory angioedema", "ORPHA:488647": "DDX41-related hematologic malignancy predisposition syndrome", "ORPHA:488635": "Early-onset epilepsy-intellectual disability-brain anomalies syndrome / Congenital disorder of glycosylation due to PIGG deficiency / PIGG-CDG", "ORPHA:488239": "Acute macular neuroretinopathy / AMNR", "ORPHA:488280": "14q32 duplication syndrome / Dup(14)q(32) / Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication / Trisomy 14q32", "ORPHA:488586": "Congenital amyoplasia / Amyoplasia congenita", "ORPHA:488197": "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome", "ORPHA:488201": "NON RARE IN EUROPE: Non-small cell lung cancer / NON RARE IN EUROPE: NSCLC", "ORPHA:488168": "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome / SMO deficiency / Sterol-C4-methyl oxidase deficiency", "ORPHA:488191": "Female infertility due to oocyte meiotic arrest", "ORPHA:487814": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation / CMT2 due to DGAT2 mutation", "ORPHA:487809": "Pediatric collagenous gastritis / Childhood-onset collagenous gastritis", "ORPHA:486955": "Rare pediatric rheumatologic disease", "ORPHA:31205": "Rat-bite fever", "ORPHA:31204": "Nocardiosis", "ORPHA:31154": "Hypobetalipoproteinemia", "ORPHA:31202": "Melioidosis / Burkholderia pseudomallei infection", "ORPHA:31153": "Hypoalphalipoproteinemia", "ORPHA:31043": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement / FHHNC without severe ocular involvement / HOMG3 / Renal hypomagnesemia type 3", "ORPHA:30924": "Primary hypomagnesemia with secondary hypocalcemia / HOMG1 / HSH / Hypomagnesemia caused by selective magnesium malabsorption / Hypomagnesemia intestinal type 1 / Intestinal hypomagnesemia with secondary hypocalcemia / PHSH", "ORPHA:476084": "BVES-related limb-girdle muscular dystrophy / Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome / BVES-related LGMD / LGMD R25 BVES-related / LGMD type 2X / LGMD2X / Limb-girdle muscular dystrophy 2X", "ORPHA:476096": "Erythrokeratodermia-cardiomyopathy syndrome / EKC syndrome", "ORPHA:476102": "OBSOLETE: Hereditary pediatric Behçet-like disease / OBSOLETE: Behçet-like disease due to HA20 / OBSOLETE: Behçet-like disease due to haploinsufficiency of A20", "ORPHA:476093": "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome", "ORPHA:471383": "Genetic lethal multiple congenital anomalies/dysmorphic syndrome", "ORPHA:474347": "Rare congenital anomaly of ventricular septum / Congenital anomaly of interventricular communication / Congenital ventricular septal anomaly", "ORPHA:71278": "Congenital brain dysgenesis due to glutamine synthetase deficiency / Inherited GS deficiency / Inherited glutamine synthetase deficiency", "ORPHA:71279": "CANOMAD syndrome / CANDA syndrome / Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome / Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies", "ORPHA:71281": "Rare central nervous system and retinal vascular disease", "ORPHA:71270": "OBSOLETE: Auriculoocular anomalies-cleft lip syndrome", "ORPHA:71271": "Split hand-split foot-deafness syndrome / Split hand-split foot-hearing loss syndrome", "ORPHA:71273": "Renal nutcracker syndrome / Left renal vein entrapment syndrome / RNS", "ORPHA:71274": "Disseminated peritoneal leiomyomatosis / DPL / Diffuse peritoneal leiomyomatosis / LPD / Leiomyomatosis peritonealis disseminate", "ORPHA:71275": "Rh deficiency syndrome / Rh-null syndrome", "ORPHA:71209": "Rare soft tissue tumor / Rare mesenchymal tumor", "ORPHA:71269": "OBSOLETE: Benign exophthalmos syndrome / OBSOLETE: BES", "ORPHA:71198": "Rare pulmonary hypertension", "ORPHA:71203": "Autoimmune thrombocytopenia", "ORPHA:71202": "Rare hemorrhagic disorder due to a constitutional platelet anomaly / Rare bleeding disorder due to a constitutional platelet anomaly / Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia / Rare coagulopathy due to a constitutional platelet anomaly / Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia / Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia", "ORPHA:558411": "Idiopathic gastroparesis", "ORPHA:70590": "Infantile apnea / Apnea in full-term infants / Apnea of infancy", "ORPHA:70596": "Congenital Epstein-Barr virus infection / Antenatal EBV infection / Antenatal Epstein-Barr virus infection / Congenital EBV infection / Mother-to-child transmission of Epstein-Barr virus infection", "ORPHA:70593": "Immunodeficiency due to selective anti-polysaccharide antibody deficiency / SPAD / Selective anti-polysaccharide antibody deficiency / Specific anti-polysaccharide antibody deficiency / Specific polysaccharide antibody deficiency", "ORPHA:70573": "Small cell lung cancer / SCLC", "ORPHA:70568": "Post-transplant lymphoproliferative disease / PTLD", "ORPHA:70588": "Meconium aspiration syndrome", "ORPHA:70470": "OBSOLETE: Hyperlipoproteinemia type 5 / OBSOLETE: HLP type 5 / OBSOLETE: Major hyperlipidemia", "ORPHA:557866": "Rare disorder with Hirschsprung disease as a major feature", "ORPHA:69745": "Warty dyskeratoma / Follicular dyskeratoma", "ORPHA:69737": "Bosley-Salih-Alorainy syndrome", "ORPHA:69739": "Athabaskan brainstem dysgenesis syndrome / ABSD / Athabascan brainstem dysgenesis syndrome / Navajo brainstem syndrome", "ORPHA:69665": "Intrahepatic cholestasis of pregnancy / Gravidic intrahepatic cholestasis / Pregnancy-related cholestasis / Recurrent intrahepatic cholestasis of pregnancy", "ORPHA:69723": "Tyrosinemia type 3 / Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency / Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency / Tyrosinemia due to HPD deficiency / Tyrosinemia type III", "ORPHA:69127": "NON RARE IN EUROPE: Immunoglobulin A deficiency / NON RARE IN EUROPE: IgA deficiency / NON RARE IN EUROPE: IgAD / NON RARE IN EUROPE: SIgAD / NON RARE IN EUROPE: Selective immunoglobulin A deficiency", "ORPHA:69088": "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome / OL-EDA-ID", "ORPHA:69083": "Ectodermal dysplasia with natal teeth, Turnpenny type", "ORPHA:69082": "Odonto-tricho-ungual-digito-palmar syndrome / OTUDP syndrome / Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type", "ORPHA:69084": "Pure hair and nail ectodermal dysplasia / HNED / Hair-nail ectodermal dysplasia / PHNED", "ORPHA:69028": "Dysostosis with brachydactyly", "ORPHA:67045": "X-linked intellectual disability with isolated growth hormone deficiency / MRGH", "ORPHA:67039": "Segmental odontomaxillary dysplasia", "ORPHA:67037": "OBSOLETE: Squamous cell carcinoma of head and neck / OBSOLETE: HNSCC / OBSOLETE: Head and neck squamous cell carcinoma", "ORPHA:67038": "B-cell chronic lymphocytic leukemia / B-CLL / B-cell chronic lymphoid leukemia / CLL/SLL / Chronic lymphocytic leukemia / Small lymphocytic lymphoma", "ORPHA:66662": "Extracutaneous mastocytoma", "ORPHA:66646": "Cutaneous mastocytosis", "ORPHA:90771": "DSD / Difference of sex development / Disorder of sex development", "ORPHA:66529": "Tako-Tsubo cardiomyopathy / Ampulla cardiomyopathy / Apical ballooning syndrome / Ballooning cardiomyopathy / Broken heart syndrome / Stress cardiomyopathy / Tako-Tsubo syndrome / Takotsubo cardiomyopathy / Takotsubo syndrome / Transient left ventricular apical ballooning syndrome", "ORPHA:65798": "Goodman syndrome / ACPS4 / Acrocephalopolysyndactyly type 4", "ORPHA:65283": "Timothy syndrome / LQT8 / Long QT syndrome type 8 / Long QT syndrome-syndactyly syndrome", "ORPHA:562639": "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome / Overlap syndromes of autoimmune liver diseases / PBC/PSC and AIH overlap syndrome", "ORPHA:65284": "Biotin-thiamine-responsive basal ganglia disease / BBGD / BTBGD / Biotin-responsive basal ganglia disease", "ORPHA:65287": "Beta-ureidopropionase deficiency / Beta-alanine synthase deficiency", "ORPHA:65681": "Vaginal atresia", "ORPHA:65683": "Isolated focal cortical dysplasia / Epilepsy due to FCD", "ORPHA:65720": "Arthrogryposis-severe scoliosis syndrome / Distal arthrogryposis type 4 / Distal arthrogryposis type IID", "ORPHA:65748": "Multiple self-healing squamous epithelioma / Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type / Ferguson-Smith disease / MSSE / Multiple keratoacanthoma, Ferguson-Smith type / Self-healing squamous epithelioma type 1", "ORPHA:65743": "Autosomal dominant multiple pterygium syndrome / Distal arthrogryposis type 8", "ORPHA:65753": "Charcot-Marie-Tooth disease type 1 / Autosomal dominant demyelinating Charcot-Marie-Tooth disease / CMT1 / Charcot-Marie-Tooth neuropathy type 1 / Hereditary motor and sensory neuropathy type 1", "ORPHA:64744": "IgG4-related thyroid disease / Riedel disease / Riedel thyroiditis", "ORPHA:64746": "Autosomal dominant Charcot-Marie-Tooth disease type 2 / Autosomal dominant axonal Charcot-Marie-Tooth disease / CMT2 / Hereditary motor and sensory neuropathy type 2", "ORPHA:64747": "X-linked Charcot-Marie-Tooth disease / CMTX / X-linked hereditary motor and sensory neuropathy", "ORPHA:64748": "Dejerine-Sottas syndrome / Charcot-Marie-Tooth disease type 3 / HMSN 3 / HMSN III / Hereditary motor and sensory neuropathy type 3 / Hereditary motor and sensory neuropathy type III", "ORPHA:64749": "Charcot-Marie-Tooth disease type 4 / AR-CMT1 / Autosomal recessive demyelinating Charcot-Marie-Tooth / CMT4", "ORPHA:64751": "Hereditary motor and sensory neuropathy type 5 / Charcot-Marie-Tooth disease-pyramidal features syndrome / HMSN 5 / HMSN V / Hereditary motor and sensory neuropathy type V", "ORPHA:562509": "Heme oxygenase-1 deficiency / HO-1 deficiency", "ORPHA:562528": "Congenital limbs-face contractures-hypotonia-developmental delay syndrome / CLIFAHDD syndrome", "ORPHA:562559": "Anterior maxillary protrusion-strabismus-intellectual disability syndrome / MRAMS syndrome", "ORPHA:562538": "Autosomal recessive extra-oral halitosis / MTO-deficiency / Methanethiol oxidase deficiency", "ORPHA:65279": "OBSOLETE: Lymphocytic colitis", "ORPHA:562569": "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome", "ORPHA:64686": "Tolosa-Hunt syndrome / Painful ophthalmoplegia", "ORPHA:64545": "Benign idiopathic neonatal seizures / BINS / Benign nonfamilial neonatal seizures", "ORPHA:64542": "Acrofacial dysostosis, Kennedy-Teebi type / Kennedy-Teebi syndrome", "ORPHA:64722": "Granulomatous mastitis / Idiopathic granulomatous mastitis", "ORPHA:64720": "Leiomyosarcoma", "ORPHA:64694": "Trench fever / Bartonellosis due to Bartonella quintana infection", "ORPHA:64692": "Bartonella bacilliformis infection / Bartonellosis due to infection with Bartonella bacilliformis / Carrion disease", "ORPHA:64738": "NON RARE IN EUROPE: Non rare thrombophilia", "ORPHA:64734": "Iridocorneal endothelial syndrome / ICE syndrome", "ORPHA:64743": "Hepatoportal sclerosis / Obliterative portal venopathy", "ORPHA:64742": "Pleuropulmonary blastoma", "ORPHA:561854": "FOXG1 syndrome / FOXG1-related epileptic-dyskinetic encephalopathy", "ORPHA:64740": "NON RARE IN EUROPE: Recurrent acute pancreatitis", "ORPHA:63261": "HERNS syndrome / Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome", "ORPHA:63269": "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis / Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome", "ORPHA:63440": "OBSOLETE: Isolated oxycephaly / OBSOLETE: Acrocephaly / OBSOLETE: Hypsicephaly / OBSOLETE: Hypsocephaly / OBSOLETE: Pyrgocephaly / OBSOLETE: Turricephaly", "ORPHA:63454": "Pattern dystrophy / Patterned dystrophy of the retinal pigment epithelium", "ORPHA:63443": "Rare epithelial tumor of stomach / Rare gastric epithelial tumor", "ORPHA:63999": "IgG4-related mediastinitis / Fibrosing mediastinitis / Mediastinal fibrosis / Sclerosing mediastinitis", "ORPHA:60041": "Congenital heart block / Congenital atrioventricular block", "ORPHA:563954": "Isolated congenital hypoglossia", "ORPHA:59305": "Gestational trophoblastic neoplasm / GTN", "ORPHA:563951": "Isolated congenital aglossia", "ORPHA:59306": "McLeod neuroacanthocytosis syndrome / MLS / X-linked McLeod syndrome", "ORPHA:59298": "Schilder disease / Myelinoclastic diffuse sclerosis", "ORPHA:564003": "Osteochondrosis of the metatarsal bone / Avascular necrosis of the metatarsal bone / Freiberg disease / Freiberg infraction", "ORPHA:563991": "Osteochondrosis of the tarsal bone / Aseptic necrosis of the tarsal bone / Avascular necrosis of the tarsal bone / Kohler disease", "ORPHA:564178": "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome", "ORPHA:564127": "Genetic nephrotic syndrome / Hereditary nephrotic syndrome", "ORPHA:60014": "Argyria / Silver staining", "ORPHA:57777": "NON RARE IN EUROPE: Cirrhotic cardiomyopathy", "ORPHA:57194": "OBSOLETE: Aseptic osteitis", "ORPHA:563690": "Furuncular myiasis due to Cordylobia rodhaini / Furunculoid myiasis due to Cordylobia rodhaini / Furunculous myiasis due to Cordylobia rodhaini", "ORPHA:57146": "Rare hepatic disease", "ORPHA:563708": "Syndromic congenital sodium diarrhea / Syndromic congenital tufting enteropathy", "ORPHA:57145": "SUNCT syndrome / Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing", "ORPHA:563684": "Furuncular myiasis due to Dermatobia hominis / Furunculoid myiasis due to Dermatobia hominis / Furunculous myiasis due to Dermatobia hominis", "ORPHA:563687": "Furuncular myiasis due to Cordylobia anthropophaga / Furunculoid myiasis due to Cordylobia anthropophaga / Furunculous myiasis due to Cordylobia anthropophaga", "ORPHA:56970": "Human prion disease / TSE / Transmissible spongiform encephalopathy", "ORPHA:56965": "Progressive bulbar paralysis of childhood / Fazio-Londe disease / Progressive bulbar palsy of childhood", "ORPHA:563671": "Mucinous cystadenoma of childhood / Mucinous cystadenoma of ovary in childhood", "ORPHA:563676": "Seromucinous cystadenoma of childhood / Seromucinous cystadenoma of ovary in childhood", "ORPHA:58220": "OBSOLETE: Microscopic colitis", "ORPHA:58208": "NON RARE IN EUROPE: Pericarditis", "ORPHA:58040": "Osteoblastoma", "ORPHA:58017": "Classic hairy cell leukemia / HCL-C / Leukemic reticuloendotheliosis", "ORPHA:55595": "TNP03-related limb-girdle muscular dystrophy D2 / Autosomal dominant limb-girdle muscular dystrophy type 1F / LGMD type 1F / LGMD1F / Limb-girdle muscular dystrophy type 1F", "ORPHA:55596": "HNRNPDL-related limb-girdle muscular dystrophy D3 / Autosomal dominant limb-girdle muscular dystrophy type 1G / HNRNPDL-related LGMD D3 / LGMD type 1G / LGMD1G / Limb-girdle muscular dystrophy type 1G", "ORPHA:54368": "Sarcocystosis / Sarcosporidiosis", "ORPHA:54272": "Hepatocellular adenoma", "ORPHA:563666": "Serous cystadenoma of childhood / Serous cystadenoma of ovary in childhood", "ORPHA:563612": "Isolated exencephaly", "ORPHA:563609": "Isolated anencephaly", "ORPHA:56044": "Carcinoma of gallbladder and extrahepatic biliary tract / Carcinoma of gallbladder and EBT", "ORPHA:563589": "Seronegative autoimmune hepatitis / Autoantibody-negative autoimmune hepatitis / Seronegative AIH", "ORPHA:55880": "Chondrosarcoma", "ORPHA:563581": "Autoimmune hepatitis type 2 / AIH type 2", "ORPHA:563576": "Autoimmune hepatitis type 1 / AIH type 1", "ORPHA:55655": "Pneumococcal meningitis", "ORPHA:79217": "Other metabolic disease with skin involvement", "ORPHA:79215": "Oligosaccharidosis", "ORPHA:79214": "Disorder of biogenic amine metabolism and transport", "ORPHA:79219": "Metabolic disease involving other neurotransmitter deficiency", "ORPHA:565837": "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 / LGMD type R23 / Laminin subunit alpha 2-related LGMD R23 / Laminin subunit alpha 2-related late-onset muscular dystrophy", "ORPHA:565858": "Craniosynostosis-microretrognathia-severe intellectual disability syndrome", "ORPHA:79207": "Disorder of lysosomal amino acid transport", "ORPHA:565788": "Infantile inflammatory bowel disease with neurological involvement", "ORPHA:79213": "Mucopolysaccharidosis", "ORPHA:79212": "Mucolipidosis", "ORPHA:565899": "POMGNT2-related limb-girdle muscular dystrophy R24 / LGMD type R24 / Limb-girdle muscular dystrophy type R24 / POMGNT2-related LGMD R24 / POMGNT2-related muscular dystrophy", "ORPHA:79211": "OBSOLETE: Combined hyperlipidemia / OBSOLETE: Combined hyperlipoproteinemia / OBSOLETE: Mixed hyperlipidemia / OBSOLETE: Mixed hyperlipoproteinemia", "ORPHA:565909": "Calpain-3-related limb-girdle muscular dystrophy D4 / LGMD type D4 / LGMD1I / Limb-girdle muscular dystrophy type D4", "ORPHA:566067": "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome / CAIN", "ORPHA:79224": "Disorder of purine or pyrimidine metabolism", "ORPHA:79225": "Sphingolipidosis", "ORPHA:79226": "Sterol metabolism disorder", "ORPHA:79183": "Disorder of ketolysis", "ORPHA:79185": "Disorder of ornithine or proline metabolism", "ORPHA:79187": "Disorder of peptide metabolism", "ORPHA:79186": "Disorder of pentose phosphate metabolism", "ORPHA:79189": "Peroxisome biogenesis disorder / PBD-ZSD / Peroxisome biogenesis disorder spectrum / Peroxisome biogenesis disorder-Zellweger spectrum disorder", "ORPHA:79188": "Peroxisomal beta-oxidation disorder", "ORPHA:79175": "Disorder of gamma-aminobutyric acid metabolism / Disorder of GABA metabolism", "ORPHA:79174": "Disorder of fatty acid oxidation and ketone body metabolism", "ORPHA:79177": "Gluconeogenesis disorder", "ORPHA:79179": "Disorder of glycerol metabolism", "ORPHA:79178": "Glucose transport disorder", "ORPHA:79181": "Disorder of histidine metabolism", "ORPHA:79200": "Disorder of energy metabolism", "ORPHA:565624": "Combined oxidative phosphorylation defect type 39 / COXPD39 / GFM2-related combined oxidative phosphorylation defect", "ORPHA:565612": "Primary triglyceride deposit cardiomyovasculopathy / Neutral lipid storage disease with severe cardiovascular involvement / TGCV", "ORPHA:79201": "Glycogen storage disease / GSD / Glycogenosis", "ORPHA:565779": "Rare disorder potentially indicated for transplant or complication after transplantation", "ORPHA:565641": "Primary desmosis coli / Aplastic desmosis coli", "ORPHA:79204": "Lipid storage disease", "ORPHA:565782": "Methotrexate toxicity", "ORPHA:79190": "Disorder of phenylalanin or tyrosine metabolism", "ORPHA:79191": "Disorder of purine metabolism", "ORPHA:79192": "Disorder of pyridoxine metabolism", "ORPHA:79193": "Disorder of pyrimidine metabolism", "ORPHA:79194": "Disorder of serine or glycine metabolism", "ORPHA:79195": "Sterol biosynthesis disorder", "ORPHA:79196": "Disorder of the gamma-glutamyl cycle", "ORPHA:79197": "Disorder of branched-chain amino acid metabolism", "ORPHA:79157": "2-methylbutyryl-CoA dehydrogenase deficiency / 2-methylbutyric aciduria / Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency / SBCAD deficiency / Short/branched-chain acyl-coA dehydrogenase deficiency", "ORPHA:79154": "2-aminoadipic 2-oxoadipic aciduria / Alpha-aminoadipic aciduria", "ORPHA:79150": "Linear and whorled nevoid hypermelanosis / LWNH", "ORPHA:79146": "Familial progressive hyperpigmentation / Melanosis diffusa congenita / Melanosis universalis hereditaria / Universal melanosis", "ORPHA:79143": "Isolated congenital anonychia / Isolated anonychia", "ORPHA:79142": "NON RARE IN EUROPE: Familial Dupuytren contracture", "ORPHA:79172": "Creatine deficiency syndrome / CCDS / Cerebral creatine deficiency syndrome", "ORPHA:79173": "Disorder of methionine cycle and sulfur amino acid metabolism / Cytosolic methyl group transfer or sulfur amino acid metabolism disorder", "ORPHA:79171": "Disorder of cobalamin metabolism and transport", "ORPHA:79169": "Disorder of neurotransmitter metabolism and transport", "ORPHA:79166": "Disorder of amino acid absorption and transport", "ORPHA:79167": "Disorder of urea cycle metabolism and ammonia detoxification", "ORPHA:79163": "Classic organic aciduria", "ORPHA:79161": "Disorder of carbohydrate metabolism", "ORPHA:79158": "Cerebral organic aciduria", "ORPHA:566231": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha / RTHa / Resistance to thyroid hormone alpha / Resistance to thyroid hormone due to a mutation in TRa", "ORPHA:566243": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta / RTHb / Resistance to thyroid hormone beta / Resistance to thyroid hormone due to a mutation in TRb", "ORPHA:79118": "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome", "ORPHA:566393": "Acute mast cell leukemia / Acute MCL", "ORPHA:79105": "Myxofibrosarcoma / Fibromyxosarcoma / Myxoid malignant fibrous histiocytoma", "ORPHA:79098": "Sympathetic ophthalmia / Sympathetic uveitis", "ORPHA:566192": "Congenital autosomal recessive small-platelet thrombocytopenia / CARST", "ORPHA:566175": "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome / CD55 deficiency / CHAPLE syndrome", "ORPHA:79097": "Folinic acid-responsive seizures", "ORPHA:79138": "Bickerstaff brainstem encephalitis", "ORPHA:79139": "Japanese encephalitis", "ORPHA:79132": "OBSOLETE: Sparse hair-short stature-skin anomalies syndrome", "ORPHA:566396": "Chronic mast cell leukemia / Chronic MCL", "ORPHA:79126": "Acute interstitial pneumonia / Acute interstitial pneumonitis / Hamman-Rich syndrome", "ORPHA:79127": "Respiratory bronchiolitis-interstitial lung disease syndrome / RB-ILD", "ORPHA:77295": "Odontoleukodystrophy / Dentoleukoencephalopathy / Leukodystrophy with oligodontia", "ORPHA:77292": "Infantile neurovisceral acid sphingomyelinase deficiency / Infantile neurovisceral ASMD / NPD-A / Niemann-Pick disease type A", "ORPHA:77302": "Oculo-oto-facial dysplasia", "ORPHA:77303": "OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect / OBSOLETE: CVID due to an intrinsic B cell defect", "ORPHA:567502": "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome / BILU syndrome / Hoffman syndrome", "ORPHA:567550": "Idiopathic multidrug-resistant nephrotic syndrome", "ORPHA:77828": "Genetic obesity", "ORPHA:567548": "Idiopathic steroid-resistant nephrotic syndrome / Idiopathic SRNS", "ORPHA:567546": "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance / Idiopathic SSNS with secondary steroid resistance / Secondary SRNS / Secondary steroid-resistant nephrotic syndrome", "ORPHA:77304": "OBSOLETE: Not NOTCH3-related small vessel disease of the brain", "ORPHA:567544": "Idiopathic non-lupus full-house nephropathy / Idiopathic non-lupus FHN", "ORPHA:567556": "Genetic systemic disease with glomerulopathy as a major feature", "ORPHA:79022": "Simpson-Golabi-Behmel syndrome type 2 / Lethal variant of Simpson-Golabi-Behmel syndrome / SGBS2", "ORPHA:567558": "Non-genetic systemic disease with glomerulopathy as a major feature", "ORPHA:567552": "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy / Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression", "ORPHA:567554": "Systemic disease with glomerulopathy as a major feature", "ORPHA:77830": "Rare genetic odontologic disease", "ORPHA:567564": "Nephrotic syndrome without extrarenal manifestations", "ORPHA:79078": "IgG4-related dacryoadenitis and sialadenitis / Chronic dacryoadenitis and sialadenitis / Mikulicz disease", "ORPHA:567560": "Systemic vasculitis associated with glomerulopathy", "ORPHA:567562": "Disorder with multisystemic involvement and glomerulopathy", "ORPHA:79062": "Disorder of amino acid and other organic acid metabolism", "ORPHA:567983": "Parenteral nutrition-associated cholestasis / PNAC", "ORPHA:79093": "Foix-Alajouanine syndrome / Angiodysgenetic necrotizing myelopathy / Familial osteosclerosis with abnormalities of the nervous system and meninges / Subacute angiohypertrophic myelomalacia / Subacute ascending necrotizing myelitis / Subacute necrotizing myelitis", "ORPHA:568041": "Primary lymphedema without systemic or visceral involvement", "ORPHA:79091": "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome / HIBM3 / Hereditary inclusion body myopathy type 3 / Inclusion body myopathy type 3", "ORPHA:79088": "Localized lipodystrophy", "ORPHA:75327": "North Carolina macular dystrophy / CAPE dystrophy / CAPED / Central areolar pigment epithelial dystrophy / Central retinal pigment epithelial dystrophy / MCDR1 / NCMD / North Carolina macular dystrophy, retinal 1 / Progressive foveal dystrophy", "ORPHA:75381": "Cystoid macular dystrophy / Autosomal dominant cystoid macular edema / DCMD / Familial macular edema", "ORPHA:566847": "Aprosencephaly/atelencephaly spectrum / AP/AT spectum", "ORPHA:566841": "Liver adenomatosis / Hepatic adenomatosis", "ORPHA:75391": "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency / Primary immunodeficiency due to MCM4 deficiency", "ORPHA:566857": "Aprosencephaly", "ORPHA:566852": "Atelencephaly / Atelencephalic microcephaly", "ORPHA:566862": "Left sided atrial isomerism / Isomerism of left atrial appendage / LAI", "ORPHA:75501": "OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type / OBSOLETE: EDS X / OBSOLETE: Ehlers-Danlos syndrome type 10 / OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality / OBSOLETE: Ehlers-Danlos syndrome, fibronectin-deficient", "ORPHA:75508": "Angioosteohypotrophic syndrome / Phlebectatic osteohypoplastic angiodysplasia / Servelle-Martorell syndrome", "ORPHA:566943": "Mueller-Weiss syndrome / Brailsford disease / Mueller-Weiss osteonecrosis of the tarsal bone", "ORPHA:75565": "Tropical endomyocardial fibrosis / Davies disease / TEMF", "ORPHA:75566": "Loeffler endocarditis / Eosinophilic endocarditis", "ORPHA:75790": "Pollitt syndrome / Trichorrhexis nodosa syndrome / Trichothiodystrophy type C / Trichothiodystrophy-neurocutaneous syndrome syndrome", "ORPHA:75789": "SIBIDS syndrome / Trichothiodystrophy-osteosclerosis syndrome", "ORPHA:77240": "Primary lymphedema", "ORPHA:77242": "OBSOLETE: Lymphedema tarda", "ORPHA:77241": "OBSOLETE: Lymphedema praecox", "ORPHA:77243": "NON RARE IN EUROPE: Lipedema", "ORPHA:73271": "Bleeding diathesis due to a collagen receptor defect", "ORPHA:73263": "Zygomycosis / Mucormycosis", "ORPHA:73260": "Paracoccidioidomycosis", "ORPHA:73247": "NON RARE IN EUROPE: Eosinophilic esophagitis / NON RARE IN EUROPE: EoE", "ORPHA:569821": "Congenital primary lymphedema of Gordon / VEGFC-related congenital primary lymphedema", "ORPHA:73423": "Acute ackee fruit intoxication / Acute intoxication by Blighia sapida / Jamaican vomiting sickness / Jamaican vomiting syndrome", "ORPHA:569816": "CELSR1-related late-onset primary lymphedema", "ORPHA:73274": "OBSOLETE: Acquired hemophilia", "ORPHA:75326": "Familial isolated retinal arteriolar tortuosity / Familial retinal arteriolar tortuosity / Retinal arteriolar tortuosity / Retinal hemorrhage with vascular tortuosity / Tortuosity of retinal arteries", "ORPHA:75249": "Familial isolated restrictive cardiomyopathy / Familial or idiopathic restrictive cardiomyopathy", "ORPHA:75110": "Myiasis", "ORPHA:568065": "EPHB4-related lymphatic-related hydrops fetalis / EPHB4-related LRHF/GLD / EPHB4-related generalized lymphatic dysplasia with atrial septal defect / EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis", "ORPHA:71290": "Familial platelet disorder with associated myeloid malignancy / FPD/AML / FPDMM / FPS/AML / Familial platelet disorder with predisposition to acute myelogenous leukemia / Familial platelet disorder with predisposition to myeloid malignancy / Familial platelet disorder with propensity to acute myeloid leukemia / Familial thrombocytopenia with propensity to acute myelogenous leukemia / RUNX1 familial platelet disorder / RUNX1 familial platelet disorder with associated myeloid malignancies / RUNX1-FPD / RUNX1-FPDMM", "ORPHA:568062": "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis / Generalized lymphatic dysplasia of Fotiou / PIEZO1-related LRHF/GLD / PIEZO1-related generalized lymphatic dysplasia with systemic involvement / PIEZO1-related lymphatic-related hydrops fetalis", "ORPHA:71291": "Hereditary vascular retinopathy / HVR / Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome", "ORPHA:71505": "Cancer-associated retinopathy / CAR syndrome / Paraneoplastic retinopathy", "ORPHA:568047": "Disorder with multisystemic involvement and primary lymphedema", "ORPHA:568044": "Primary lymphedema with systemic or visceral involvement", "ORPHA:568056": "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome / Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome / WILD syndrome", "ORPHA:568051": "GJC2-related late-onset primary lymphedema", "ORPHA:569164": "Angiomatoid fibrous histiocytoma / AFH", "ORPHA:71516": "OBSOLETE: Mixed dystonia", "ORPHA:569274": "Multiple mitochondrial dysfunctions syndrome type 5 / ISCA1 deficiency / MMDS5", "ORPHA:71862": "Inherited retinal disorder / Retinal dystrophy", "ORPHA:569290": "Multiple mitochondrial dysfunctions syndrome type 6 / PMPCB deficiency", "ORPHA:71864": "Muscular channelopathy", "ORPHA:71859": "Rare genetic neurological disorder", "ORPHA:569248": "Microcystic stromal tumor / MCST", "ORPHA:73217": "Müllerian aplasia / Aplasia of the Müllerian ducts / Müllerian duct failure", "ORPHA:73014": "Intractable diarrhea of infancy / IDI", "ORPHA:73220": "X-linked intellectual disability-hypotonic face syndrome", "ORPHA:40923": "Eales disease / Idiopathic retinal perivasculitis / Idiopathic retinal vasculitis", "ORPHA:40050": "NON RARE IN EUROPE: Psoriatic arthritis", "ORPHA:530849": "Familial apolipoprotein A5 deficiency / Familial APOA5 deficiency / Familial apolipoprotein A-V deficiency", "ORPHA:530792": "RELA fusion-positive ependymoma / Supratentorial C11ORF95-RELA fused ependymoma", "ORPHA:38874": "Dihydropyrimidinuria / Dihydropyrimidinase deficiency", "ORPHA:530313": "PIK3CA-related overgrowth syndrome / PROS", "ORPHA:530303": "Progressive dementia with neuroserpin inclusion bodies / Late-onset familial encephalopathy with neuroserpin inclusion bodies", "ORPHA:37629": "Neonatal neutropenia", "ORPHA:37559": "Acquired kinky hair syndrome", "ORPHA:530298": "Progressive myoclonic epilepsy with neuroserpin inclusion bodies / Early onset familial encephalopathy with neuroserpin inclusion bodies", "ORPHA:68354": "Rare sleep disorder", "ORPHA:68356": "Leukodystrophy", "ORPHA:68346": "Rare genetic skin disease / Rare genodermatosis", "ORPHA:68347": "Tumor of hematopoietic and lymphoid tissues", "ORPHA:68341": "Multiple congenital anomalies/dysmorphic syndrome", "ORPHA:68334": "Rare hemorrhagic disorder due to a constitutional coagulation factors defect / Rare bleeding disorder due to a constitutional coagulation factors defect / Rare coagulopathy due to a constitutional coagulation factors defect", "ORPHA:68336": "Rare genetic tumor", "ORPHA:68335": "Rare chromosomal anomaly", "ORPHA:68329": "Rare maxillo-facial surgical disease / Rare maxillofacial anomaly", "ORPHA:530983": "Lamb-Shaffer syndrome / SOX5 haploinsufficiency syndrome", "ORPHA:530995": "Mixed phenotype acute leukemia / MPAL", "ORPHA:41842": "NON RARE IN EUROPE: Fibromyalgia", "ORPHA:35705": "Neurometabolic disorder due to serine deficiency / Serine deficiency", "ORPHA:35704": "L-Arginine:glycine amidinotransferase deficiency / AGAT deficiency", "ORPHA:35708": "Aromatic L-amino acid decarboxylase deficiency / AADC deficiency", "ORPHA:35696": "Mitochondrial disorder due to a defect in mitochondrial protein synthesis / COXPD / Combined OXPHOS defect / Combined OXPHOS deficiency / Combined oxidative phosphorylation defect", "ORPHA:35688": "OBSOLETE: Madelung deformity", "ORPHA:35698": "Mitochondrial DNA depletion syndrome / mtDNA depletion syndrome", "ORPHA:35686": "Serpiginous choroiditis / Geographic helicoid peripapillary choroidopathy", "ORPHA:35656": "Coenzyme Q10 deficiency / CoQ10 deficiency", "ORPHA:35120": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency / P5N deficiency / UMPH1 deficiency / Uridine 5'-monophosphate hydrolase deficiency", "ORPHA:35098": "OBSOLETE: Isolated plagiocephaly / OBSOLETE: Non-syndromic unicoronal synostosis / OBSOLETE: Synostotic plagiocephaly", "ORPHA:35123": "OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency / OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 / OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency / OBSOLETE: HSD deficiency", "ORPHA:35121": "Lysosomal acid phosphatase deficiency", "ORPHA:36388": "Paraneoplastic neurologic syndrome / PNS", "ORPHA:36414": "OBSOLETE: Brain stem tumor", "ORPHA:36297": "NON RARE IN EUROPE: Anorexia nervosa", "ORPHA:36355": "Bleeding disorder due to P2Y12 defect / Bleeding disorder due to ADP platelet receptor P2Y12 defect", "ORPHA:36383": "COL4A1/2-related familial vascular leukoencephalopathy / COL4A-related brain small vessel disease with hemorrhage / COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome", "ORPHA:36386": "Hereditary sensory and autonomic neuropathy type 1 / HSAN1 / Hereditary sensory and autonomic neuropathy type I", "ORPHA:36234": "Bacterial toxic-shock syndrome / Bacterial TSS", "ORPHA:36205": "OBSOLETE: Collagenous colitis", "ORPHA:36236": "Staphylococcal scalded skin syndrome / Generalized exfoliative disease / SSSS", "ORPHA:36235": "Staphylococcal scarlet fever", "ORPHA:36238": "Staphylococcal necrotizing pneumonia", "ORPHA:36273": "Gastric linitis plastica / Borrmann gastric cancer type 4 / Linitis plastica of the stomach", "ORPHA:35808": "Malignant sex cord stromal tumor of ovary / Malignant ovarian SCST / Malignant ovarian sex cord-stromal tumor", "ORPHA:35807": "Malignant germ cell tumor of ovary / MOGCT / Malignant ovarian germ cell tumor / Ovarian germ cell cancer", "ORPHA:35909": "Combined deficiency of factor V and factor VIII / F5F8D / FV and FVIII combined deficiency", "ORPHA:35889": "Acute opioid intoxication", "ORPHA:36204": "Intestinal lymphangiectasia", "ORPHA:35981": "Polymicrogyria", "ORPHA:33572": "5-oxoprolinase deficiency / Oxoprolinuria due to oxoprolinase deficiency", "ORPHA:33543": "Kleine-Levin syndrome", "ORPHA:33475": "Meningococcal meningitis", "ORPHA:33409": "NON RARE IN EUROPE: Lichen sclerosus / NON RARE IN EUROPE: Lichen sclerosus et atrophicus", "ORPHA:535458": "Familial GPIHBP1 deficiency / Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency", "ORPHA:34412": "NON RARE IN EUROPE: HAIR-AN syndrome / NON RARE IN EUROPE: Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome", "ORPHA:34149": "Autosomal dominant tubulointerstitial kidney disease / ADTKD / Familial juvenile hyperuricemic nephropathy / MCKD / Medullary cystic kidney disease", "ORPHA:34145": "Immunoglobulin A nephropathy / Berger disease / IgA nephropathy", "ORPHA:33573": "Gamma-glutamyl transpeptidase deficiency / Gamma-glutamyl transferase deficiency / Glutathionuria", "ORPHA:33108": "Lethal multiple pterygium syndrome / Autosomal recessive lethal multiple pterygium syndrome / LMPS", "ORPHA:33067": "Metaphyseal chondrodysplasia, Jansen type", "ORPHA:535453": "Familial lipase maturation factor 1 deficiency / Familial LMF1 deficiency", "ORPHA:33271": "NON RARE IN EUROPE: Non-alcoholic fatty liver disease / NON RARE IN EUROPE: NAFLD", "ORPHA:35061": "OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes", "ORPHA:35056": "NON RARE IN EUROPE: Trimethylaminuria / NON RARE IN EUROPE: Fish-odor syndrome", "ORPHA:35066": "NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis / NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidiasis", "ORPHA:35063": "Fulminant viral hepatitis", "ORPHA:35062": "Severe disseminated cytomegalovirus infection in immunocompetent patients / Severe disseminated CMV infection in immunocompetent patients", "ORPHA:35065": "OBSOLETE: Idiopathic severe pneumococcemia", "ORPHA:35064": "OBSOLETE: Lethal idiopathic viral infection", "ORPHA:34520": "Congenital muscular dystrophy with integrin alpha-7 deficiency / Congenital muscular dystrophy with ITGA7 deficiency", "ORPHA:34521": "Distal myopathy with early respiratory muscle involvement", "ORPHA:34514": "Telethonin-related limb-girdle muscular dystrophy R7 / Autosomal recessive limb-girdle muscular dystrophy type 2G / LGMD due to telethonin deficiency / LGMD type 2G / LGMD2G / Limb-girdle muscular dystrophy due to telethonin deficiency / Limb-girdle muscular dystrophy type 2G / Telethonin-related LGMD R7", "ORPHA:34517": "Autosomal dominant limb-girdle muscular dystrophy type 1E / LGMD1E", "ORPHA:34592": "Immunodeficiency by defective expression of MHC class I / Bare lymphocyte syndrome type 1 / MHC class I deficiency", "ORPHA:34526": "OBSOLETE: Genetic primary hypomagnesemia", "ORPHA:34527": "OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia", "ORPHA:34528": "Autosomal dominant primary hypomagnesemia with hypocalciuria / HOMG2 / Isolated autosomal dominant hypomagnesemia / Isolated renal magnesium wasting / Renal hypomagnesemia type 2", "ORPHA:34533": "Corneal dystrophy", "ORPHA:536391": "RASopathy", "ORPHA:536516": "Myopathic Ehlers-Danlos syndrome / EDS/myopathy overlap syndrome / Myopathic EDS", "ORPHA:536471": "Spondylodysplastic Ehlers-Danlos syndrome / Spondylodysplastic EDS / spEDS", "ORPHA:536545": "Kyphoscoliotic Ehlers-Danlos syndrome / EDS VI / Ehlers-Danlos syndrome type 6 / Kyphoscoliotic EDS / kEDS", "ORPHA:537072": "PLG-related hereditary angioedema with normal C1Inh / PLG-related HAE with normal C1 inhibitor", "ORPHA:52662": "Rare teratologic disease / Acquired embryofetopathy", "ORPHA:52530": "Pseudo-von Willebrand disease / PT-VWD / Platelet type-von Willebrand disease / Pseudo-von Willebrand disease type 2B", "ORPHA:52688": "Myelodysplastic syndrome", "ORPHA:537891": "OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh / OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor", "ORPHA:52428": "Congenital muscular dystrophy type 1C / CMD1C / MDC1C", "ORPHA:538096": "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy", "ORPHA:538101": "Congenital axonal neuropathy with encephalopathy", "ORPHA:538238": "Neurological channelopathy of the central nervous system due to a genetic chloride channel defect", "ORPHA:52183": "Premature chromosome condensation with microcephaly and intellectual disability", "ORPHA:53347": "Brody myopathy", "ORPHA:52994": "Orbital leiomyoma", "ORPHA:52759": "Vasculitis / Systemic vasculitis", "ORPHA:53690": "Congenital lactase deficiency", "ORPHA:53689": "Congenital chloride diarrhea", "ORPHA:538863": "Classic pyoderma gangrenosum / Ulcerative pyoderma gangrenosum", "ORPHA:538756": "Familial multiple discoid fibromas / Familial multiple trichodiscomas", "ORPHA:538574": "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome / Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome", "ORPHA:53540": "Goldmann-Favre syndrome / Enhanced S-cone syndrome / Retinoschisis with early nyctalopia", "ORPHA:54260": "Left ventricular noncompaction / LVNC / Left ventricular hypertrabeculation / Spongy myocardium", "ORPHA:538934": "X-linked lymphoproliferative disease due to XIAP deficiency / X-linked lymphoproliferative syndrome type 2 / XIAP deficiency syndrome / XLP2", "ORPHA:538931": "X-linked lymphoproliferative disease due to SAP deficiency / X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency / X-linked lymphoproliferative disease due to SH2D1A deficiency / X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency / X-linked lymphoproliferative syndrome type 1 / XLP1", "ORPHA:54238": "Myotonic dystrophy type 3", "ORPHA:53739": "Distal hereditary motor neuropathy / Distal spinal muscular atrophy / dHMN / dSMA", "ORPHA:53698": "Myosin storage myopathy / Hyaline body myopathy", "ORPHA:53696": "Arthrogryposis-anterior horn cell disease syndrome / AAHD / Vuopala disease", "ORPHA:538872": "Vegetative pyoderma gangrenosum / Granulomatous pyoderma gangrenosum", "ORPHA:53691": "Congenital cornea plana", "ORPHA:538869": "Bullous pyoderma gangrenosum / Phemphigoid pyoderma gangrenosum", "ORPHA:538866": "Pustular pyoderma gangrenosum", "ORPHA:48736": "Embryonal carcinoma of the central nervous system / Embryonal carcinoma of the CNS", "ORPHA:49042": "Dentinogenesis imperfecta / DGI / DGI without OI / DI / Dentinogenesis imperfecta without osteogenesis imperfecta / Non-syndromic DGI / Non-syndromic dentinogenesis imperfecta / Opalescent teeth without OI / Opalescent teeth without osteogenesis imperfecta", "ORPHA:538958": "Combined immunodeficiency due to CD70 deficiency / CID due to CD70 deficiency", "ORPHA:538963": "Combined immunodeficiency due to ITK deficiency / Autosomal recessive lymphoproliferative disease due to ITK deficiency", "ORPHA:48471": "Lissencephaly", "ORPHA:48435": "Postinfectious vasculitis", "ORPHA:50816": "Spondylometaphyseal dysplasia with combined immunodeficiency / Roifman-Melamed syndrome / SPENCDI / Spondyloenchondrodysplasia with immune dysregulation", "ORPHA:51084": "Torsade-de-pointes syndrome with short coupling interval", "ORPHA:51013": "OBSOLETE: Melanoma-pancreatic cancer syndrome", "ORPHA:50839": "Cat-scratch disease / Bartonellosis due to Bartonella henselae infection", "ORPHA:50838": "NON RARE IN EUROPE: Carpal tunnel syndrome", "ORPHA:50920": "OBSOLETE: Multiple fibroadenoma of the breast / OBSOLETE: Mammary polyadenomatosis", "ORPHA:52054": "Craniosynostosis-intracranial calcifications syndrome / Longman-Tolmie syndrome", "ORPHA:51577": "Cobblestone lissencephaly / Lissencephaly type 2", "ORPHA:51608": "Generalized arterial calcification of infancy / Idiopathic infantile arterial calcification / Idiopathic obliterative arteriopathy / Infantile arteriosclerosis / Occlusive infantile arteriopathy", "ORPHA:541507": "Anomalous origin of coronary artery from the pulmonary artery / ACAPA", "ORPHA:541478": "Anomalous aortic origin of coronary artery / AAOCA", "ORPHA:541454": "Anomalous aortic origin of the right coronary artery / AORCA / R-ACAOS / Right coronary artery from left aortic sinus", "ORPHA:51890": "Anterior cutaneous nerve entrapment syndrome / ACNES / Intercostal nerve syndrome / Rectus abdominis syndrome", "ORPHA:541443": "Anomalous aortic origin of the left coronary artery / AOLCA / L-ACAOS / Left coronary artery from right aortic sinus", "ORPHA:542301": "Combined immunodeficiency due to CARMIL2 deficiency / Combined immunodeficiency due to RLTPR deficiency", "ORPHA:68419": "Rare vascular anomaly", "ORPHA:542323": "CAR T cell therapy-associated cytokine release syndrome / CAR T cell therapy-associated CRS / Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome", "ORPHA:43117": "Acute tricyclic antidepressant poisoning", "ORPHA:542585": "Auditory neuropathy-optic atrophy syndrome", "ORPHA:43116": "Serotonin syndrome / Serotonergic syndrome / Serotonin storm / Serotonin toxicity / Serotonin toxidrome", "ORPHA:542592": "Necrobiosis lipoidica / Oppenheim-Urbach disease", "ORPHA:43119": "Acute poisoning by drugs with membrane-stabilizing effect", "ORPHA:542643": "Livedoid vasculopathy / Livedo reticularis with summer ulcerations / Milian atrophie blanche / Segmental hyalinizing vasculitis", "ORPHA:42738": "Severe congenital neutropenia", "ORPHA:43115": "Hereditary myopathy with lactic acidosis due to ISCU deficiency / Aconitase deficiency / ISCU myopathy / Iron-sulfur cluster deficiency myopathy / Myopathy with exercise intolerance, Swedish type", "ORPHA:542568": "Quadricuspid aortic valve", "ORPHA:543470": "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome", "ORPHA:45452": "Idiopathic neonatal atrial flutter", "ORPHA:542657": "Isolated hyperchlorhidrosis / Carbonic anhydrase XII deficiency", "ORPHA:542822": "Anomaly of the coronary ostia", "ORPHA:45360": "NON RARE IN EUROPE: Menière disease", "ORPHA:45358": "Congenital fibrosis of extraocular muscles / FEOM", "ORPHA:544254": "SYNGAP1-related developmental and epileptic encephalopathy / SYNGAP1-related DEE", "ORPHA:46485": "Superficial pemphigus", "ORPHA:46484": "Oligodendroglial tumor", "ORPHA:46135": "Primary central nervous system lymphoma / PCNSL / Primary CNS lymphoma / Primary brain lymphoma", "ORPHA:544458": "Hemolytic uremic syndrome / HUS", "ORPHA:47044": "Hereditary papillary renal cell carcinoma / HPRC", "ORPHA:46658": "Primordial short stature-microdontia-opalescent and rootless teeth syndrome", "ORPHA:46489": "OBSOLETE: Bullous systemic lupus erythematosus / OBSOLETE: BSLE", "ORPHA:48162": "Lewis-Sumner syndrome / MADSAM / Multifocal acquired demyelinating sensory and motor neuropathy", "ORPHA:544493": "Streptococcus pneumoniae-associated hemolytic uremic syndrome / S. pneumoniae-associated HUS / SP-HUS", "ORPHA:544482": "Infection-related hemolytic uremic syndrome / Infection-related HUS", "ORPHA:544488": "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome / Bachmann-Bupp syndrome / Ornithine decarboxylase deficiency", "ORPHA:544472": "Atypical hemolytic uremic syndrome with complement gene abnormality / Atypical HUS with complement gene abnormality / aHUS with complement gene abnormality", "ORPHA:544628": "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome", "ORPHA:544590": "Collagen-related glomerular basement membrane disease", "ORPHA:544602": "Congenital myopathy with reduced type 2 muscle fibers / Congenital myopathy with fast-twitch fiber atrophy / Congenital myopathy with reduced type II muscle fibers / Congenital myopathy with type 2 muscle fiber atrophy / Congenital myopathy with type II fiber atrophy", "ORPHA:544578": "Congenital primary megaureter, refluxing and obstructed form", "ORPHA:68361": "Rare deafness / Rare hearing loss", "ORPHA:68362": "Rare vascular disease", "ORPHA:68363": "Rare dystonia / Rare dystonic disorder", "ORPHA:555402": "NAD(P)HX dehydratase deficiency / CARKD deficiency", "ORPHA:68364": "Hemoglobinopathy", "ORPHA:555434": "Fibrohistiocytic inflammatory pseudotumor of the liver", "ORPHA:555407": "NAD(P)HX epimerase deficiency / Apolipoprotein A-I binding protein deficiency", "ORPHA:68366": "Lysosomal disease", "ORPHA:68367": "Rare inborn errors of metabolism / Rare metabolic disease", "ORPHA:555437": "Lymphoplasmacytic inflammatory pseudotumor of the liver / IgG4-related inflammatory pseudotumor of the liver", "ORPHA:68373": "Peroxisomal disease", "ORPHA:555874": "Congenital tricuspid valve dysplasia", "ORPHA:68378": "Congenital limb malformation", "ORPHA:555877": "FLNA-related X-linked myxomatous valvular dysplasia / FLNA-related valvular dystrophy / Filamin A-related X-linked myxomatous valvular dysplasia", "ORPHA:68381": "Neuromuscular disease", "ORPHA:555905": "IgA pemphigus", "ORPHA:68380": "Mitochondrial disease", "ORPHA:68383": "Rare constitutional aplastic anemia", "ORPHA:68385": "Neurometabolic disease", "ORPHA:68388": "OBSOLETE: Neurofibromatosis", "ORPHA:556985": "Early-onset calcifying leukoencephalopathy-skeletal dysplasia", "ORPHA:556955": "Pancreatic agenesis-holoprosencephaly syndrome", "ORPHA:556508": "Rare disorder due to poisoning", "ORPHA:68402": "Rare parkinsonian disorder / Rare hypokinetic movement disorder", "ORPHA:557064": "Neonatal epileptic encephalopathy due to glutaminase deficiency", "ORPHA:557056": "Spastic ataxia-dysarthria due to glutaminase deficiency", "ORPHA:557003": "Oculoskeletodental syndrome / Oculo-skeleto-dental syndrome", "ORPHA:68411": "Rare bone tumor", "ORPHA:68416": "Rare infectious disease", "ORPHA:68415": "Rare parathyroid disease and phosphocalcic metabolism anomaly", "ORPHA:90065": "Acquired aneurysmal subarachnoid hemorrhage", "ORPHA:519392": "Isolated iridoschisis", "ORPHA:90066": "Pneumonia caused by Pseudomonas aeruginosa infection", "ORPHA:519390": "Isolated blepharochalasis", "ORPHA:519396": "Isolated microspherophakia", "ORPHA:90068": "Cocaine intoxication", "ORPHA:519394": "OBSOLETE: Isolated microphakia", "ORPHA:90061": "Non-infectious posterior uveitis / Non-infectious choroiditis", "ORPHA:519384": "Congenital cystic eye / Congenital anophthalmos with cyst", "ORPHA:519357": "OBSOLETE: Syndromic malformation of the optic disc", "ORPHA:90062": "Acute liver failure / Acute hepatic failure / Fulminant hepatic failure", "ORPHA:519388": "Autosomal recessive anterior segment dysgenesis", "ORPHA:90064": "Acute peripheral arterial occlusion", "ORPHA:519386": "Isolated congenital entropion", "ORPHA:90073": "Hepatitis B reinfection following liver transplantation", "ORPHA:519408": "Mooren ulcer", "ORPHA:519406": "Thygeson superficial punctate keratitis / Thygeson superficial punctate keratopathy", "ORPHA:519410": "Terrien marginal degeneration", "ORPHA:90076": "Partial deep dermal and full thickness burns", "ORPHA:90069": "Systemic monochloroacetate poisoning", "ORPHA:519400": "Peripapillary staphyloma", "ORPHA:90070": "OBSOLETE: Methotrexate poisoning / OBSOLETE: Methotrexate intoxication", "ORPHA:519398": "Isolated foveal hypoplasia", "ORPHA:519404": "Optic disc pit", "ORPHA:519402": "Isolated megalopapilla", "ORPHA:519333": "Congenital optic disc excavation", "ORPHA:519335": "OBSOLETE: Inflammatory/autoimmune optic neuropathy", "ORPHA:90052": "Recurrent hepatitis C virus induced liver disease in liver transplant recipients", "ORPHA:519337": "Disorder with optic nerve compression", "ORPHA:90051": "Sepsis in premature infants", "ORPHA:519339": "Pseudopapilledema", "ORPHA:519325": "Syndromic inherited retinal disorder / Syndromic retinal dystrophy", "ORPHA:90041": "Gaisböck syndrome / Stress erythrocytosis / Stress polycythemia", "ORPHA:519327": "Syndromic vitreoretinopathy", "ORPHA:90039": "Hemoglobin D disease", "ORPHA:519329": "Rare disorder involving multiple structures of the eye", "ORPHA:519331": "Secondary early-onset glaucoma", "ORPHA:90058": "Spinal cord injury", "ORPHA:519349": "Rare ophthalmic disorder with cranial nerve involvement", "ORPHA:519351": "Rare optic nerve disorder", "ORPHA:519353": "Rare trochlear nerve disorder", "ORPHA:90060": "Diffuse alveolar hemorrhage", "ORPHA:519355": "Rare ocular motility/alignment disorder", "ORPHA:90059": "Sudden sensorineural hearing loss / Secondary acute sensorineural hearing loss", "ORPHA:519341": "Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature", "ORPHA:519343": "Rare ophthalmic disorder with cortical involvement", "ORPHA:90053": "Complications after hematopoietic stem cell transplantation / Complications after HSCT", "ORPHA:519345": "Rare disorder with optic disc malformation", "ORPHA:90056": "Moderate and severe traumatic brain injury", "ORPHA:519347": "Rare neuromuscular disorder with ocular motility/alignment anomaly", "ORPHA:90055": "OBSOLETE: Rejection after corneal transplantation", "ORPHA:519306": "Isolated progressive inherited retinal disorder", "ORPHA:90025": "Non-syndromic syndactyly", "ORPHA:519304": "Isolated vitreoretinopathy", "ORPHA:90022": "OBSOLETE: Cardiomyopathy-renal anomalies syndrome", "ORPHA:519302": "Isolated macular dystrophy", "ORPHA:519300": "Isolated chorioretinal dystrophy", "ORPHA:519298": "Rare scleral disorder", "ORPHA:90020": "Parkinson-dementia complex of Guam / G-PDC / Guam disease / Guam parkinsonism-dementia complex / Lytico-Bodig disease", "ORPHA:519296": "Rare disorder with pigmented sclera", "ORPHA:90021": "Radiation myelitis", "ORPHA:90002": "Undifferentiated connective tissue syndrome / UCTD", "ORPHA:519294": "Syndromic microspherophakia", "ORPHA:519292": "Syndromic ectopia lentis", "ORPHA:90003": "Inflammatory pseudotumor of the liver", "ORPHA:519323": "Syndromic macular dystrophy", "ORPHA:519321": "Syndromic chorioretinal dystrophy", "ORPHA:98523": "PCH / Non-syndromic pontocerebellar hypoplasia / Pontoneocerebellar atrophy / Pontoneocerebellar hypoplasia", "ORPHA:519319": "Isolated stationary inherited retinal disorder", "ORPHA:519317": "Rare retinal vasculopathy", "ORPHA:519315": "Rare retinal disorder", "ORPHA:90031": "Non-spherocytic hemolytic anemia due to hexokinase deficiency", "ORPHA:519313": "Rare macular disorder", "ORPHA:519311": "Rare disorder of the posterior segment of the eye", "ORPHA:519309": "Rare choroidal disorder", "ORPHA:90030": "Hemolytic anemia due to glutathione reductase deficiency", "ORPHA:519272": "Structural developmental eye defect", "ORPHA:519274": "Syndromic lacrimal system disorder", "ORPHA:89845": "OBSOLETE: Idiopathic hydrops fetalis", "ORPHA:519268": "Rare disorder with ectropion", "ORPHA:519270": "Rare disorder with entropion", "ORPHA:519264": "Inflammatory/autoimmune disorder involving the lacrimal system", "ORPHA:519266": "Rare disorder of the ocular adnexa", "ORPHA:89841": "OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa / OBSOLETE: Centripetal dystrophic epidermolysis bullosa / OBSOLETE: Centripetal recessive dystrophic epidermolysis bullosa / OBSOLETE: RDEB, centripetalis", "ORPHA:89840": "OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type / OBSOLETE: JEN-nH", "ORPHA:89839": "OBSOLETE: Epidermolysis bullosa simplex superficialis / OBSOLETE: EBSS", "ORPHA:90001": "X-linked cone dysfunction syndrome with myopia / Bornholm eye disease", "ORPHA:519288": "Rare disorder with corneal involvement as a major feature", "ORPHA:519290": "Rare inflammatory/autoimmune corneal disorder", "ORPHA:519284": "Rare disorder of the anterior segment of the eye", "ORPHA:519286": "Rare disorder of the pupil", "ORPHA:519280": "Rare conjunctivitis", "ORPHA:519282": "Rare corneal disorder", "ORPHA:89939": "NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis / NON RARE IN EUROPE: Renal tubular acidosis type 4", "ORPHA:519276": "Anterior segment developmental abnormality with extraocular manifestations", "ORPHA:89938": "Bartter syndrome type 4 / Bartter syndrome type IV / Bartter syndrome with sensorineural deafness / Bartter syndrome with sensorineural hearing loss", "ORPHA:519278": "Infective keratitis", "ORPHA:90338": "Margarita island ectodermal dysplasia", "ORPHA:90339": "OBSOLETE: Rosselli-Gulienetti syndrome", "ORPHA:90341": "Early-onset sarcoidosis", "ORPHA:90345": "OBSOLETE: Unclassified metaphyseal chondrodysplasia", "ORPHA:90350": "Autosomal recessive cutis laxa type 2 / ARCL2 / Cutis laxa with joint laxity and developmental delay", "ORPHA:90290": "CREST syndrome / Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome", "ORPHA:90318": "OBSOLETE: Ehlers-Danlos syndrome type 2 / OBSOLETE: EDS II", "ORPHA:90309": "OBSOLETE: Ehlers-Danlos syndrome type 1 / OBSOLETE: EDS I", "ORPHA:90322": "Cockayne syndrome type 2 / Cockayne syndrome type II", "ORPHA:90321": "Cockayne syndrome type 1 / Cockayne syndrome type I", "ORPHA:90324": "Cockayne syndrome type 3 / Cockayne syndrome type III", "ORPHA:90281": "Discoid lupus erythematosus", "ORPHA:90185": "Non-hereditary late-onset primary lymphedema / Meige-like disease", "ORPHA:90285": "Lupus erythematosus panniculitis / Lupus erythematosus profundus", "ORPHA:90287": "OBSOLETE: Maculopapular lupus rash", "ORPHA:90282": "Hypertrophic or verrucous lupus erythematosus", "ORPHA:90283": "Lupus erythematosus tumidus / Intermittent cutaneous lupus", "ORPHA:90080": "Scarring in glaucoma filtration surgical procedures", "ORPHA:90079": "OBSOLETE: Anthracycline extravasation", "ORPHA:90078": "Invasive infections due to vancomycin-resistant enterococci / Invasive infections due to VRE", "ORPHA:90077": "Other acquired skin disease", "ORPHA:514980": "ATP13A2-related parkinsonism", "ORPHA:90081": "AIDS wasting syndrome", "ORPHA:90118": "Severe early-onset axonal neuropathy due to MFN2 deficiency / AR-CMT2, Ouvrier type / Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type / SEOAN due to MFN2 deficiency", "ORPHA:90114": "Autosomal dominant intermediate Charcot-Marie-Tooth disease / CMTDI", "ORPHA:90120": "Hereditary motor and sensory neuropathy type 6 / CMT6 / Charcot-Marie-Tooth disease type 6 / HMSN 6 / HMSN VI / Hereditary motor and sensory neuropathy type VI / Peripheral neuropathy and optic atrophy", "ORPHA:90119": "Hereditary motor and sensory neuropathy with acrodystrophy / AR-CMT2 with acrodystrophy / Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy / Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy / HMSN with acrodystrophy", "ORPHA:525677": "Genetic congenital malformation of the eye with glaucoma as a major feature", "ORPHA:525738": "Prepubertal anorexia nervosa", "ORPHA:522584": "Rare genetic choroidal disorder", "ORPHA:523000": "Pediatric-onset glaucoma", "ORPHA:522574": "Rare genetic macular disorder", "ORPHA:522576": "Rare genetic retinal vasculopathy", "ORPHA:522578": "Rare genetic disorder involving multiple structures of the eye", "ORPHA:522580": "Secondary early-onset glaucoma of genetic origin", "ORPHA:522568": "Rare genetic disorder of the pupil", "ORPHA:522566": "Rare genetic inflammatory/autoimmune corneal disorder", "ORPHA:88659": "Autosomal dominant progressive nephropathy with hypertension", "ORPHA:522572": "Rare genetic retinal disorder", "ORPHA:88660": "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor / Early-onset hypertension with exacerbation in pregnancy / Pseudohyperaldosteronism type 2", "ORPHA:522570": "Rare genetic disorder of the posterior segment of the eye", "ORPHA:88661": "Amelogenesis imperfecta", "ORPHA:522560": "Genetic corneal dystrophy", "ORPHA:522558": "Rare genetic disorder with corneal involvement as a major feature", "ORPHA:522564": "Syndromic genetic keratoconus", "ORPHA:88642": "Congenital insensitivity to pain-anosmia-neuropathic arthropathy / SCN9A-related congenital insensitivity to pain", "ORPHA:522562": "Genetic superficial corneal dystrophy", "ORPHA:88632": "Anterior segment developmental anomaly / Anterior segment dysgenesis", "ORPHA:522552": "Lens position anomaly of genetic origin", "ORPHA:88633": "Superior limbic keratoconjunctivitis / SLK / Theodore superior limbic keratoconjunctivitis / Theodore syndrome", "ORPHA:522550": "Lens size anomaly of genetic origin", "ORPHA:522556": "Rare genetic corneal disorder", "ORPHA:522554": "Syndromic genetic ectopia lentis", "ORPHA:88636": "Aortic dilatation-joint hypermobility-arterial tortuosity syndrome", "ORPHA:522544": "OBSOLETE: Rare genetic conjunctivitis", "ORPHA:522542": "Rare genetic disorder with conjunctival involvement as a major feature", "ORPHA:522548": "Syndromic genetic cataract", "ORPHA:522546": "Rare genetic disorder with lens opacification", "ORPHA:522538": "Rare genetic disorder of the anterior segment of the eye", "ORPHA:88620": "Isolated congenital anosmia", "ORPHA:522540": "Anterior segment developmental anomaly of genetic origin", "ORPHA:522534": "Lacrimal drainage system anomaly of genetic origin", "ORPHA:522536": "Structural developmental eye defect of genetic origin", "ORPHA:88616": "Autosomal recessive non-syndromic intellectual disability / AR-NSID / NS-ARID", "ORPHA:522530": "Rare genetic disorder with entropion", "ORPHA:522532": "Rare genetic disorder of the lacrimal apparatus", "ORPHA:522526": "Rare genetic palpebral disorder", "ORPHA:522528": "Rare genetic eyelid malposition disorder", "ORPHA:522522": "Rare genetic neuromuscular disorder with ocular motility/alignment anomaly", "ORPHA:87277": "Rare intellectual disability", "ORPHA:522524": "Rare genetic disorder of the ocular adnexa", "ORPHA:522518": "Rare genetic disorder with strabismus", "ORPHA:522520": "Syndromic genetic disorder with strabismus", "ORPHA:522514": "Congenital optic disc excavation of genetic origin", "ORPHA:522516": "Rare genetic ocular motility/alignment disorder", "ORPHA:522510": "Rare genetic ophthalmic disorder with cranial nerve involvement", "ORPHA:86920": "Dermatopathia pigmentosa reticularis", "ORPHA:522512": "Rare genetic optic nerve disorder", "ORPHA:522508": "Rare genetic ophthalmic disorder with cortical involvement", "ORPHA:86917": "OBSOLETE: Lymphedema-cleft palate syndrome", "ORPHA:522506": "Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature", "ORPHA:522504": "Rare genetic disorder of the visual organs", "ORPHA:86915": "Lymphedema-atrial septal defects-facial changes syndrome / Irons-Bhan syndrome / Irons-Bianchi syndrome", "ORPHA:522043": "Syndromic autoimmune enteropathy", "ORPHA:86913": "Myoclonic epilepsy in non-progressive encephalopathies / Myoclonic status in non-progressive encephalopathies / Myoclonus epilepsy in non-progressive encephalopathies", "ORPHA:522037": "Primary autoimmune enteropathy", "ORPHA:86914": "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome", "ORPHA:86911": "Epilepsy with myoclonic absences", "ORPHA:86906": "Hypothalamic hamartomas with gelastic seizures", "ORPHA:86908": "Hemiconvulsion-hemiplegia-epilepsy syndrome / HHE / HHE syndrome / IHHS", "ORPHA:86903": "Dendritic cell sarcoma not otherwise specified", "ORPHA:521450": "LAMA5-related multisystemic syndrome", "ORPHA:86904": "Methotrexate-associated lymphoproliferative disorders / MTX-LPD / MTX-associated lymphoproliferative disorders", "ORPHA:521438": "Congenital vertebral-cardiac-renal anomalies syndrome / Congenital NAD deficiency disorder", "ORPHA:86900": "Interdigitating dendritic cell sarcoma / Interdigitating cell sarcoma / Reticulum cell sarcoma", "ORPHA:521432": "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome", "ORPHA:86902": "Follicular dendritic cell sarcoma", "ORPHA:86896": "Histiocytic sarcoma", "ORPHA:521414": "Autosomal dominant Charcot-Marie-Tooth disease type 2DD / ATP1A1-related CMT2 / ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 / CMT2DD", "ORPHA:86897": "Langerhans cell sarcoma", "ORPHA:89832": "OBSOLETE: Syndromic lymphedema", "ORPHA:89826": "Rare skin disease", "ORPHA:521268": "OBSOLETE: SLC5A6-CDG / OBSOLETE: SLC5A6-related congenital disorder of glycosylation", "ORPHA:521305": "Proximal myopathy with focal depletion of mitochondria", "ORPHA:89833": "Palmoplantar keratoderma with tonotubular keratin", "ORPHA:521399": "NON RARE IN EUROPE: Non rare obesity", "ORPHA:520820": "Progressive external ophthalmoplegia", "ORPHA:521123": "Radiation-induced plexopathy", "ORPHA:521127": "Osteoradionecrosis of the mandible", "ORPHA:521132": "Radiation-induced disorder", "ORPHA:521219": "Mirizzi syndrome / Extrinsic biliary compression syndrome", "ORPHA:89043": "Rare dementia", "ORPHA:521232": "Genetic primary orthostatic disorder", "ORPHA:521236": "Primary orthostatic disorder", "ORPHA:88949": "MUC1-related autosomal dominant tubulointerstitial kidney disease / ADTKD-MUC1 / MCKD1 / MUC1-related medullary cystic kidney disease / MUCI-related ADTKD / Medullary cystic kidney disease type 1", "ORPHA:88950": "UMOD-related autosomal dominant tubulointerstitial kidney disease / ADTKD-UMOD / Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation / Familial juvenile hyperuricemic nephropathy type 1 / MCKD2 / Medullary cystic kidney disease type 2 / UAKD / UMOD kidney disease / UMOD-related ADTKD / Uromodulin-associated kidney disease", "ORPHA:88991": "Rare congenital non-syndromic heart malformation", "ORPHA:88993": "Esophageal malformation", "ORPHA:520817": "Isolated inherited retinal disorder", "ORPHA:520814": "Rare disorder of the visual organs", "ORPHA:88940": "Pseudohypoaldosteronism type 2C / PHA2C", "ORPHA:88939": "Pseudohypoaldosteronism type 2B / PHA2B", "ORPHA:519930": "Fungal keratitis / Keratomycosis / Mycotic keratitis", "ORPHA:88938": "Pseudohypoaldosteronism type 2A / PHA2A", "ORPHA:88924": "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis / PKDTS / TSC2/PKD1 contiguous gene syndrome / Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome", "ORPHA:88918": "Autosomal dominant Alport syndrome", "ORPHA:88919": "Autosomal recessive Alport syndrome", "ORPHA:88917": "X-linked Alport syndrome", "ORPHA:528105": "Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome / HELIX syndrome", "ORPHA:93222": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation", "ORPHA:93221": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes", "ORPHA:528091": "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome", "ORPHA:93220": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "ORPHA:93218": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis / OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis", "ORPHA:528084": "Non-specific syndromic intellectual disability / Complex neurodevelopmental disorder", "ORPHA:93217": "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "ORPHA:93216": "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes", "ORPHA:93214": "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation", "ORPHA:93269": "Short rib-polydactyly syndrome, Majewski type / Short rib-polydactyly syndrome type 2", "ORPHA:93270": "Short rib-polydactyly syndrome, Saldino-Noonan type / Short rib-polydactyly syndrome type 1", "ORPHA:93268": "Short rib-polydactyly syndrome, Beemer-Langer type / Short rib-polydactyly syndrome type 4", "ORPHA:93282": "Spondyloepimetaphyseal dysplasia, PAPSS2 type / Spondyloepimetaphyseal dysplasia, Pakistani type", "ORPHA:93279": "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis", "ORPHA:93280": "Spondyloepiphyseal dysplasia, Omani type", "ORPHA:93276": "Polyostotic fibrous dysplasia", "ORPHA:93277": "Monostotic fibrous dysplasia / Jaffe-Lichtenstein disease", "ORPHA:93275": "Thanatophoric dysplasia, Glasgow variant", "ORPHA:93108": "Renal dysplasia / Kidney dysplasia", "ORPHA:93101": "Renal hypoplasia", "ORPHA:527450": "Severe myopia-generalized joint laxity-short stature syndrome", "ORPHA:93100": "Renal agenesis, unilateral", "ORPHA:527468": "Diaphragmatic hernia-short bowel-asplenia syndrome", "ORPHA:93164": "Transient pseudohypoaldosteronism / Secondary pseudohypoaldosteronism / TPHA", "ORPHA:93114": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E / CMTDIE / Charcot-Marie-Tooth disease-nephropathy syndrome", "ORPHA:93126": "Pauci-immune glomerulonephritis", "ORPHA:93177": "Congenital bilateral megacalycosis", "ORPHA:93178": "OBSOLETE: Partial prune belly syndrome", "ORPHA:93172": "Renal dysplasia, unilateral / Kidney dysplasia, unilateral", "ORPHA:93173": "Renal dysplasia, bilateral / Kidney dysplasia, bilateral", "ORPHA:93176": "Unilateral congenital megacalycosis", "ORPHA:93207": "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change / OBSOLETE: Steroid-sensitive MCNS", "ORPHA:93209": "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation", "ORPHA:93213": "OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis / OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis", "ORPHA:93206": "OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis / OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis", "ORPHA:93336": "Polydactyly of a triphalangeal thumb / PPD2 / Preaxial polydactyly type 2", "ORPHA:93335": "Postaxial polydactyly type B", "ORPHA:93334": "Postaxial polydactyly type A", "ORPHA:93339": "Polydactyly of a biphalangeal thumb and/or hallux / PPD1 / Preaxial polydactyly type 1", "ORPHA:93337": "Polydactyly of an index finger / PPD3 / Preaxial polydactyly type 3", "ORPHA:527276": "Encephalopathy due to mitochondrial and peroxisomal fission defect", "ORPHA:93338": "Polysyndactyly / PPD4 / Preaxial polydactyly type 4", "ORPHA:93349": "X-linked spondyloepimetaphyseal dysplasia", "ORPHA:93347": "Anauxetic dysplasia / Spondyloepimetaphyseal dysplasia, Menger type / Spondyloepimetaphyseal dysplasia, anauxetic type", "ORPHA:93292": "Adenoma of pancreas / Pancreatic adenoma", "ORPHA:93293": "Okihiro syndrome / Duane-radial ray syndrome", "ORPHA:93297": "Hypochondrogenesis", "ORPHA:93301": "Brachyolmia type 1, Hobaek type", "ORPHA:93303": "Brachyolmia type 1, Toledo type", "ORPHA:93313": "OBSOLETE: Multiple epiphyseal dysplasia, unclassified type", "ORPHA:90692": "Rare endocrine growth disease", "ORPHA:529864": "Secondary erythromelalgia / Secondary erythermalgia", "ORPHA:529852": "Combined hepatocellular carcinoma and cholangiocarcinoma / Combined HCC-CC / Combined hepatocellular-cholangiocarcinoma / Hepatocholangiocarcinoma / cHCC-CC", "ORPHA:529831": "Letrozole toxicity", "ORPHA:529819": "NON RARE IN EUROPE: Exfoliation syndrome / NON RARE IN EUROPE: Pseudoexfoliation syndrome / NON RARE IN EUROPE: XFS", "ORPHA:90787": "46,XY difference of sex development due to testicular steroidogenesis defect / 46,XY DSD due to testicular steroidogenesis defect / 46,XY disorder of sex development due to testicular steroidogenesis defect", "ORPHA:90786": "46,XY difference of sex development due to adrenal and testicular steroidogenesis defect / 46,XY DSD due to adrenal and testicular steroidogenesis defect / 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect", "ORPHA:90783": "46,XY difference of sex development due to a testosterone synthesis defect / 46,XY DSD due to a testosterone synthesis defect / 46,XY disorder of sex development due to a testosterone synthesis defect", "ORPHA:90776": "46,XX difference of sex development induced by fetal androgens excess / 46,XX DSD induced by fetal androgens excess / 46,XX disorder of sex development induced by fetal androgens excess", "ORPHA:529980": "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome / NFAT5 haploinsufficiency", "ORPHA:530033": "Dermoid or epidermoid cyst of the central nervous system / Dermoid or epidermoid cyst of the CNS", "ORPHA:529974": "Immune dysregulation with inflammatory bowel disease", "ORPHA:529977": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome", "ORPHA:90400": "Scleromyxedema without monoclonal gammopathy", "ORPHA:90625": "Rare X-linked non-syndromic sensorineural deafness type DFN / X-linked isolated neurosensory deafness type DFN / X-linked isolated neurosensory hearing loss type DFN / X-linked isolated sensorineural deafness type DFN / X-linked isolated sensorineural hearing loss type DFN / X-linked non-syndromic neurosensory deafness type DFN / X-linked non-syndromic neurosensory hearing loss type DFN / X-linked non-syndromic sensorineural hearing loss type DFN", "ORPHA:90635": "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA / Autosomal dominant isolated neurosensory deafness type DFNA / Autosomal dominant isolated neurosensory hearing loss type DFNA / Autosomal dominant isolated sensorineural deafness type DFNA / Autosomal dominant isolated sensorineural hearing loss type DFNA / Autosomal dominant non-syndromic neurosensory deafness type DFNA / Autosomal dominant non-syndromic neurosensory hearing loss type DFNA / Autosomal dominant non-syndromic sensorineural hearing loss type DFNA", "ORPHA:90636": "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB / Autosomal recessive isolated neurosensory deafness type DFNB / Autosomal recessive isolated neurosensory hearing loss type DFNB / Autosomal recessive isolated sensorineural deafness type DFNB / Autosomal recessive isolated sensorineural hearing loss type DFNB / Autosomal recessive non-syndromic neurosensory deafness type DFNB / Autosomal recessive non-syndromic neurosensory hearing loss type DFNB / Autosomal recessive non-syndromic sensorineural hearing loss type DFNB", "ORPHA:90396": "Acral persistent papular mucinosis", "ORPHA:529468": "Monoclonal mast cell activation syndrome / Monoclonal MCAD", "ORPHA:90397": "Self-healing papular mucinosis", "ORPHA:529574": "Duane retraction syndrome with congenital deafness / DRS with deafness / DRS with hearing loss / DURS with deafness / DURS with hearing loss / Duane retraction syndrome with congenital hearing loss", "ORPHA:90398": "Localized lichen myxedematosus with mixed features of different subtypes", "ORPHA:90399": "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms", "ORPHA:90393": "Nodular lichen myxedematosus / Atypical tuberous myxedema of Jadassohn-Dosseker", "ORPHA:90394": "Discrete papular lichen myxedematosus", "ORPHA:90395": "Papular mucinosis of infancy / Cutaneous mucinosis of infancy", "ORPHA:90368": "Hypotrichosis simplex of the scalp / Hereditary hypotrichosis simplex of the scalp", "ORPHA:90389": "Telangiectasia macularis eruptiva perstans", "ORPHA:90390": "Anonychia-onychodystrophy syndrome", "ORPHA:90649": "Orofaciodigital syndrome type 7 / OFD7 / Oral-facial-digital syndrome type 7 / Whelan syndrome", "ORPHA:90642": "Syndromic genetic deafness / Syndromic genetic hearing loss", "ORPHA:90641": "Rare mitochondrial non-syndromic sensorineural deafness / Isolated mitochondrial neurosensory deafness / Isolated mitochondrial neurosensory hearing loss / Isolated mitochondrial sensorineural deafness / Isolated mitochondrial sensorineural hearing loss / Mitochondrial non-syndromic neurosensory deafness / Mitochondrial non-syndromic neurosensory hearing loss / Mitochondrial non-syndromic sensorineural hearing loss", "ORPHA:91396": "Isolated cryptophthalmia", "ORPHA:91378": "Hereditary angioedema / Familial angioneurotic edema / HAE / Hereditary angioneurotic edema / Hereditary bradykinine-induced angioedema / Hereditary non histamine-induced angioedema", "ORPHA:91385": "Acquired angioedema / AAE / Acquired C1 inhibitor deficiency / Acquired angioneurotic edema / Acquired bradykinine-induced angioedema / Acquired non histamine-induced angioedema", "ORPHA:91413": "Congenital Horner syndrome / Congenital Claude-Bernard-Horner syndrome", "ORPHA:91397": "Isolated ankyloblepharon filiforme adnatum", "ORPHA:91357": "Duplication of the esophagus", "ORPHA:91364": "Non-specific interstitial pneumonia / NSIP / Non-specific idiopathic interstitial pneumonia", "ORPHA:91365": "OBSOLETE: Secondary ciliary dyskinesia / OBSOLETE: Acquired ciliary dyskinesia", "ORPHA:91358": "Congenital esophageal diverticulum / Congenital esophageal pouch", "ORPHA:91359": "Chronic pneumonitis of infancy / CPI", "ORPHA:91496": "Snowflake vitreoretinal degeneration", "ORPHA:91495": "Persistent hyperplastic primary vitreous / Congenital retinal detachment / NCRNA disease / Non-syndromic congenital retinal non-attachment / PFVS / PHPV / Persistent fetal vasculature syndrome", "ORPHA:91494": "Macular coloboma-cleft palate-hallux valgus syndrome", "ORPHA:91492": "Early onset non-syndromic cataract", "ORPHA:91498": "Familial congenital palsy of trochlear nerve", "ORPHA:91481": "Ring dermoid of cornea / Ring dermoid syndrome", "ORPHA:91415": "OBSOLETE: Familial capillary hemangioma", "ORPHA:91491": "Congenital ectropion uveae", "ORPHA:91490": "Isolated congenital sclerocornea", "ORPHA:91489": "Isolated congenital megalocornea / Congenital anterior megalophthalmia", "ORPHA:91483": "Rieger anomaly", "ORPHA:91127": "Adenovirus infection in immunocompromised patients", "ORPHA:91128": "OBSOLETE: Graft rejection after lung transplantation", "ORPHA:91129": "Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome", "ORPHA:91133": "OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome / OBSOLETE: Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome", "ORPHA:91024": "Autosomal recessive axonal hereditary motor and sensory neuropathy / AR-CMT2 / Autosomal recessive axonal Charcot-Marie-Tooth disease type 2", "ORPHA:91088": "Other metabolic disease", "ORPHA:91353": "OBSOLETE: Choristoma", "ORPHA:91352": "Germinoma of the central nervous system", "ORPHA:91136": "Acquired monoclonal Ig light chain-associated Fanconi syndrome / Acquired Fanconi syndrome secondary to monoclonal gammopathy / Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome", "ORPHA:91137": "Immunotactoid or fibrillary glomerulopathy / Immunotactoid or fibrillary glomerulonephritis", "ORPHA:91140": "Unspecified juvenile idiopathic arthritis / Unspecified JIA", "ORPHA:91139": "Simple cryoglobulinemia / Cryoglobulinemia type 1", "ORPHA:528623": "Hereditary angioedema with C1Inh deficiency / HAE with C1 inhibitor deficiency / HAE with C1Inh deficiency / Hereditary angioneurotic edema with C1 inhibitor deficiency / Hereditary angioneurotic edema with C1Inh deficiency", "ORPHA:91144": "46,XX difference of sex development induced by maternal-derived androgen / 46,XX DSD induced by maternal-derived androgen / 46,XX disorder of sex development induced by maternal-derived androgen", "ORPHA:528647": "Hereditary angioedema with normal C1Inh / HAE with normal C1 inhibitor / HAE with normal C1Inh / Hereditary angioedema with normal C1 inhibitor / Hereditary angioneurotic edema with normal C1 inhibitor / Hereditary angioneurotic edema with normal C1Inh", "ORPHA:528663": "Acquired angioedema with C1Inh deficiency / Acquired angioneurotic edema with C1 inhibitor deficiency / Acquired angioneurotic edema with C1Inh deficiency", "ORPHA:79384": "Rare urticaria", "ORPHA:79385": "Unclassified genetic skin disorder", "ORPHA:79382": "Subcutaneous tissue disease", "ORPHA:79383": "OBSOLETE: Lymphedema", "ORPHA:79388": "Mucopolysaccharidosis with skin involvement / MPS with skin involvement", "ORPHA:79389": "Premature aging", "ORPHA:79386": "Rare skin tumor or hamartoma", "ORPHA:79387": "Metabolic disease with skin involvement", "ORPHA:79390": "Rare photodermatosis / Rare skin photosensitivity", "ORPHA:79391": "Immune deficiency with skin involvement", "ORPHA:79369": "Isolated nail anomaly", "ORPHA:79368": "Nail anomaly", "ORPHA:79367": "Syndromic hair shaft abnormality", "ORPHA:79366": "Isolated hair shaft abnormality", "ORPHA:79373": "Ectodermal dysplasia syndrome", "ORPHA:79372": "Sebaceous gland anomaly", "ORPHA:79370": "Syndromic nail anomaly", "ORPHA:79377": "Dermis disorder", "ORPHA:79376": "Hypopigmentation of the skin", "ORPHA:79375": "Hyperpigmentation of the skin", "ORPHA:79374": "Pigmentation anomaly of the skin", "ORPHA:79381": "Other dermis disorder", "ORPHA:79380": "Mixed dermis disorder", "ORPHA:79379": "Skin vascular disease", "ORPHA:79378": "Dermis elastic tissue disorder", "ORPHA:79414": "Woolly hair nevus / Wooly hair nevus", "ORPHA:79428": "OBSOLETE: Familial segmental neurofibromatosis", "ORPHA:79429": "OBSOLETE: Familial spinal neurofibromatosis", "ORPHA:79407": "Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type / DDEB, Cockayne-Touraine type", "ORPHA:79450": "Non-hereditary congenital primary lymphedema", "ORPHA:79446": "Multiple pterygium syndrome, Aslan type", "ORPHA:79447": "X-linked lethal multiple pterygium syndrome", "ORPHA:79458": "Oley syndrome / Congenital hypotrichosis-milia syndrome", "ORPHA:79459": "OBSOLETE: Follicular atrophoderma-basal cell carcinoma", "ORPHA:79482": "Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome / Akesson syndrome", "ORPHA:79483": "Phakomatosis cesioflammea / Phakomatosis pigmentovascularis type 2", "ORPHA:79484": "Phakomatosis cesiomarmorata / Phakomatosis pigmentovascularis type 5", "ORPHA:79485": "Phakomatosis spilorosea / Phakomatosis pigmentovascularis type 3", "ORPHA:79479": "Pemphigus vegetans", "ORPHA:79490": "Microcystic lymphatic malformation / Capillary lymphangioma / Capillary lymphatic malformation / Cutaneous lymphangioma circumscriptum / Microcystic infiltrating lymphatic malformation / Microcystic lymphangioma / Superficial lymphangioma / Superficial lymphatic malformation", "ORPHA:79486": "Cystic hygroma", "ORPHA:79489": "Macrocystic lymphatic malformation / Cavernous lymphangioma / Cavernous lymphatic malformation / Macrocystic lymphangioma", "ORPHA:79467": "Verrucous nevus", "ORPHA:79466": "Inflammatory linear verrucous epidermal nevus / ILVEN", "ORPHA:79468": "Acanthokeratolytic verrucous nevus", "ORPHA:79269": "Sanfilippo syndrome type A / Heparan sulfamidase deficiency / MPS3A / MPSIIIA / Mucopolysaccharidosis type 3A / Mucopolysaccharidosis type IIIA", "ORPHA:79257": "GM1 gangliosidosis type 3 / Adult-onset GM1 gangliosidosis", "ORPHA:79256": "GM1 gangliosidosis type 2 / Juvenile GM1 gangliosidosis / Late-infantile GM1 gangliosidosis", "ORPHA:79261": "Glycogen storage disease type 1d / Type 1D glycogenosis", "ORPHA:79260": "Glycogen storage disease type 1c / Type 1C glycogenosis", "ORPHA:79258": "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia / G6P deficiency type 1a / GSD due to G6P deficiency type 1a / GSD due to G6P deficiency type Ia / GSD type 1a / GSDIa / Glycogen storage disease due to G6P deficiency type Ia / Glycogen storage disease type 1a / Glycogenosis due to glucose-6-phosphatase deficiency type 1a / Glycogenosis due to glucose-6-phosphatase deficiency type Ia / Glycogenosis type Ia", "ORPHA:79253": "Mild phenylketonuria / Mild PKU / Variant PKU / Variant phenylketonuria / mPKU", "ORPHA:79298": "Diazoxide-resistant focal hyperinsulinism / Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form", "ORPHA:79289": "Niemann-Pick disease type D / Niemann-Pick disease, Nova Scotia type", "ORPHA:79293": "Familial LCAT deficiency / Complete LCAT deficiency / FLD / Norum disease", "ORPHA:659681": "EPP / Erythropoietic porphyria", "ORPHA:79270": "Sanfilippo syndrome type B / MPS3B / MPSIIIB / Mucopolysaccharidosis type 3B / Mucopolysaccharidosis type IIIB / N-acetyl-alpha-glucosaminidase deficiency", "ORPHA:79271": "Sanfilippo syndrome type C / HGSNAT deficiency / Heparan-alpha-glucosaminide N-acetyltransferase deficiency / MPS3C / MPSIIIC / Mucopolysaccharidosis type 3C / Mucopolysaccharidosis type IIIC", "ORPHA:79272": "Sanfilippo syndrome type D / GNS deficiency / Glucosamine N-acetyl-6-sulfatase deficiency / MPS3D / MPSIIID / Mucopolysaccharidosis type 3D / Mucopolysaccharidosis type IIID", "ORPHA:79316": "OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency / OBSOLETE: PEPCK1 deficiency", "ORPHA:79317": "OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency / OBSOLETE: PEPCK2 deficiency", "ORPHA:79315": "D-2-hydroxyglutaric aciduria / D-2-HGA / D-2-hydroxyglutaric acidemia", "ORPHA:79310": "Vitamin B12-responsive methylmalonic acidemia type cblA / Vitamin B12-responsive methylmalonic aciduria type cblA", "ORPHA:79311": "Vitamin B12-responsive methylmalonic acidemia type cblB / Vitamin B12-responsive methylmalonic aciduria, type cblB", "ORPHA:79306": "Progressive familial intrahepatic cholestasis type 1 / Byler disease / FIC1 deficiency / PFIC1", "ORPHA:79304": "Progressive familial intrahepatic cholestasis type 2 / BSEP deficiency / PFIC2", "ORPHA:79305": "Progressive familial intrahepatic cholestasis type 3 / PFIC3", "ORPHA:79363": "Hair anomaly", "ORPHA:79362": "Epidermal appendage anomaly", "ORPHA:79365": "Rare disorder with hypertrichosis", "ORPHA:79364": "Alopecia", "ORPHA:79359": "Other epidermal disorder", "ORPHA:79361": "Inherited epidermolysis bullosa / Epidermolysis bullosa hereditaria / Hereditary epidermolysis bullosa", "ORPHA:79360": "Other genetic epidermal disease", "ORPHA:79355": "Erythrokeratoderma", "ORPHA:79354": "Ichthyosis", "ORPHA:79356": "Acrokeratoderma", "ORPHA:79353": "Epidermal disease", "ORPHA:79346": "Chondrodysplasia punctata, tibial-metacarpal type", "ORPHA:79347": "Chondrodysplasia punctata, Toriello type / Toriello-Higgins-Miller syndrome", "ORPHA:79344": "OBSOLETE: Chondrodysplasia punctata, Sheffield type", "ORPHA:85191": "Singleton-Merten dysplasia / Singleton-Merten syndrome", "ORPHA:85188": "Metaphyseal dysplasia, Braun-Tinschert type", "ORPHA:85192": "Calvarial doughnut lesions-bone fragility syndrome / Familial doughnut lesions of skull", "ORPHA:85195": "Familial expansile osteolysis / Hereditary expansile polyostotic osteolytic dysplasia / McCabe disease", "ORPHA:85200": "Ischio-vertebral syndrome / Ischiospinal dysostosis / Ischiovertebral dysplasia", "ORPHA:85281": "OBSOLETE: MECP2 duplication syndrome / OBSOLETE: Lubs-Arena syndrome / OBSOLETE: X-linked intellectual disability, Lubs type / OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome", "ORPHA:85289": "X-linked intellectual disability, Vitale type", "ORPHA:85291": "X-linked intellectual disability, Wittwer type / Wittwer syndrome", "ORPHA:85318": "OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome", "ORPHA:85328": "X-linked intellectual disability, Turner type", "ORPHA:85333": "X-linked intellectual disability-spastic paraplegia with iron deposits syndrome / Arena syndrome", "ORPHA:85330": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome", "ORPHA:85331": "OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome", "ORPHA:85337": "X-linked intellectual disability, Zorick type", "ORPHA:85442": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome", "ORPHA:85458": "Cerebral Amyloid Angiopathy / HCHWA / Hereditary cerebral hemorrhage with amyloidosis", "ORPHA:85453": "X-linked reticulate pigmentary disorder / Familial cutaneous amyloidosis / PDR / Partington disease / X-linked cutaneous amyloidosis / XLPDR", "ORPHA:86813": "Helicoid peripapillary chorioretinal degeneration / Atrophia areata / SCRA / Sveinsson chorioretinal atrophy", "ORPHA:86815": "Aplasia of lacrimal and salivary glands / ALSG / Congenital absence of lacrimal puncta and salivary glands", "ORPHA:86789": "Isolated patella aplasia/hypoplasia / PTLAH", "ORPHA:86795": "Localized lichen myxedematosus / Papular mucinosis", "ORPHA:86797": "Atypical lichen myxedematosus / Intermediate lichen myxedematosus", "ORPHA:86821": "Lissencephaly type 3-familial fetal akinesia sequence syndrome", "ORPHA:86823": "Lissencephaly with cerebellar hypoplasia / LCH", "ORPHA:512017": "Chronic lymphoproliferative disorder of natural killer cells / CLPD-NK / CNKL / Chronic NK lymphocytosis / Chronic NK-cell lymphocytosis / Chronic lymphoproliferative disorder of NK-cells / NK-cell lineage granular lymphocyte proliferative disorder", "ORPHA:86817": "Hemolytic anemia due to adenylate kinase deficiency", "ORPHA:86819": "Atrichia with papular lesions / Papular atrichia", "ORPHA:512034": "Large granular lymphocyte leukemia", "ORPHA:86836": "Refractory cytopenia with multilineage dysplasia", "ORPHA:512103": "Autosomal recessive epidermolytic ichthyosis / AREI", "ORPHA:86834": "Juvenile myelomonocytic leukemia / JMML / Juvenile chronic myelomonocytic leukemia", "ORPHA:86830": "Chronic myeloproliferative disease, unclassifiable / CMPD-U / Undifferentiated myeloproliferative disease", "ORPHA:86829": "Chronic neutrophilic leukemia", "ORPHA:86855": "Plasmacytoma / Solitary plasmacytoma", "ORPHA:86854": "Splenic marginal zone lymphoma / SMZL", "ORPHA:86852": "B-cell prolymphocytic leukemia / B-PLL", "ORPHA:86851": "Acute leukemia of ambiguous lineage / Acute leukemia of indeterminate lineage / Hybrid acute leukemia / Mixed lineage acute leukemia", "ORPHA:86850": "Myeloid sarcoma / Chloroma / Extramedullary myeloid tumor / Granulocytic sarcoma", "ORPHA:86849": "Acute basophilic leukemia", "ORPHA:86846": "Therapy related acute myeloid leukemia and myelodysplastic syndrome / Secondary AML / Secondary acute myeloid leukemia / Therapy-related AML and myelodysplastic syndrome", "ORPHA:86845": "Acute myeloid leukaemia with myelodysplasia-related features / AML with multilineage dysplasia / AML with myelodysplasia-related features / Acute myeloid leukemia with multilineage dysplasia", "ORPHA:86872": "T-cell large granular lymphocyte leukemia / Proliferation of large granular lymphocytes / T-LGL / T-cell LGL leukemia", "ORPHA:86873": "Aggressive NK-cell leukemia / ANKCL / Aggressive NK-cell lymphoma / NK-cell LGL leukemia / NK-cell large granular lymphocyte leukemia", "ORPHA:86870": "Blastic plasmacytoid dendritic cell neoplasm / BPDCN", "ORPHA:86871": "T-cell prolymphocytic leukemia / T-PLL / T-cell chronic lymphocytic leukemia", "ORPHA:86867": "Nodal marginal zone B-cell lymphoma / NMZL", "ORPHA:86869": "Lymphomatoid granulomatosis / LYG", "ORPHA:86861": "Non-amyloid monoclonal immunoglobulin deposition disease / Non-amyloid MIDD / Randall disease", "ORPHA:86864": "Heavy chain disease / HCD", "ORPHA:86886": "Angioimmunoblastic T-cell lymphoma / AILT / Immunoblastic lymphadenopathy / Lymphogranulomatosis X / T-cell lymphoma, AILD type", "ORPHA:86885": "Primary cutaneous peripheral T-cell lymphoma not otherwise specified / Primary cutaneous peripheral T-cell lymphoma NOS / Primary cutaneous unspecified peripheral T-cell lymphoma", "ORPHA:86880": "Enteropathy-associated T-cell lymphoma / EATL / ETTL / Enteropathy-associated T-cell lymphoma type 1 / Enteropathy-type T-cell lymphoma / Intestinal T-cell lymphoma", "ORPHA:86882": "Hepatosplenic T-cell lymphoma", "ORPHA:86875": "Adult T-cell leukemia/lymphoma / ATLL", "ORPHA:86879": "Extranodal nasal NK/T cell lymphoma / Angiocentric T-cell lymphoma / Lethal midline granuloma / NK/T-cell lymphoma / NKTCL / Nasal T/natural killer-cell lymphoma", "ORPHA:79502": "Punctate palmoplantar keratoderma type 2 / PPKP2 / PPPP / Porokeratosis punctata palmaris et plantaris / Punctate palmoplantar hyperkeratosis type 2", "ORPHA:79504": "Ichthyosis hystrix gravior / Ichthyosis, Lambert type", "ORPHA:79507": "Hypotonia-failure to thrive-microcephaly syndrome / LTC4 synthase deficiency / Leukotriene C4 synthase deficiency", "ORPHA:79495": "X-linked congenital generalized hypertrichosis / Congenital generalized hypertrichosis, Macias-Flores type / Macias Flores-Garcia Cruz-Rivera syndrome", "ORPHA:79669": "Autoimmune bullous skin disease", "ORPHA:82004": "Ehlers-Danlos syndrome with periventricular heterotopia / EDS with periventricular heterotopia / Filamin A-related EDS with periventricular nodular heterotopia", "ORPHA:83001": "Urogenital tract malformation", "ORPHA:79643": "Autosomal recessive hyperinsulinism due to SUR1 deficiency / Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency", "ORPHA:79651": "Mild hyperphenylalaninemia / Mild HPA / Non-PKU HPA / mHPA", "ORPHA:79644": "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency / Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "ORPHA:83330": "Proximal spinal muscular atrophy type 1 / Infantile spinal muscular atrophy / Infantile-onset spinal muscular atrophy / SMA type 1 / SMA type I / SMA-I / SMA1 / Werdnig-Hoffmann disease", "ORPHA:83315": "Murine typhus / Endemic typhus / Flea-borne typhus", "ORPHA:83316": "Pseudotyphus of California", "ORPHA:83419": "Proximal spinal muscular atrophy type 3 / Juvenile spinal muscular atrophy / Kugelberg-Welander disease / SMA type 3 / SMA type III / SMA-III / SMA3", "ORPHA:83420": "Proximal spinal muscular atrophy type 4 / SMA type 4 / SMA type IV / SMA-IV / SMA4 / Spinal muscular atrophy, adult form", "ORPHA:83418": "Proximal spinal muscular atrophy type 2 / Intermediate spinal muscular atrophy / SMA type 2 / SMA type II / SMA-II / SMA2", "ORPHA:83313": "Boutonneuse fever / Mediterranean spotted fever", "ORPHA:83314": "Epidemic typhus", "ORPHA:83311": "Rocky Mountain spotted fever", "ORPHA:83312": "Rickettsialpox", "ORPHA:83467": "Morvan syndrome / Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome / Morvan fibrillary chorea", "ORPHA:83476": "West-Nile encephalitis / West-Nile fever", "ORPHA:83451": "Florid cemento-osseous dysplasia / Florid osseous dysplasia / Focal cemento-osseous dysplasia", "ORPHA:83450": "Regional odontodysplasia / Ghost teeth", "ORPHA:83449": "NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome / NON RARE IN EUROPE: SIADH", "ORPHA:514352": "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome / Serpentine-like syndrome", "ORPHA:83618": "Severe dilated cardiomyopathy due to lamin A/C mutation / Severe dilated cardiomyopathy with or without myopathy", "ORPHA:83616": "Rubella panencephalitis", "ORPHA:83594": "Eastern equine encephalitis / Eastern equine encephalomyelitis", "ORPHA:83595": "Colorado tick fever / American mountain fever / Colorado tick encephalitis / Colorado tick-borne disease / Mountain fever / Mountain tick fever", "ORPHA:83597": "Acute disseminated encephalomyelitis / ADEM / Acute disseminated encephalitis", "ORPHA:83482": "Mycoplasma encephalitis", "ORPHA:83483": "La Crosse encephalitis / Californian encephalitis", "ORPHA:83484": "St. Louis encephalitis / Saint Louis encephalitis", "ORPHA:83593": "Western equine encephalitis / Western equine encephalomyelitis", "ORPHA:84081": "Senior-Boichis syndrome / Boichis disease / Nephronophthisis-hepatic fibrosis syndrome", "ORPHA:84087": "Collagen type III glomerulopathy / Collagenofibrotic glomerulopathy", "ORPHA:84065": "Idiopathic malabsorption due to bile acid synthesis defects / Idiopathic bile acid malabsorption", "ORPHA:83639": "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency / Congenital disorder of glycosylation due to PIGM deficiency / PIGM-CDG", "ORPHA:83648": "OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome", "ORPHA:83642": "Microcytic anemia with liver iron overload", "ORPHA:85146": "Neurogenic scapuloperoneal syndrome, Kaeser type / Kaeser syndrome / Stark-Kaeser syndrome", "ORPHA:85142": "NON RARE IN EUROPE: Aldosterone-producing adenoma / NON RARE IN EUROPE: Aldosterone-secreting adenoma / NON RARE IN EUROPE: Aldosteronoma / NON RARE IN EUROPE: Conn adenoma / NON RARE IN EUROPE: Primary aldosteronism due to Conn adenoma", "ORPHA:85136": "Cystic leukoencephalopathy without megalencephaly / CLWM", "ORPHA:85110": "Familial encephalopathy with neuroserpin inclusion bodies / FENIB", "ORPHA:84271": "Sporadic idiopathic steroid-resistant nephrotic syndrome / Sporadic idiopathic nephrosis", "ORPHA:85102": "Perineurioma", "ORPHA:84132": "Desmin-related myopathy with Mallory body-like inclusions / Early-onset desmin-related myopathy", "ORPHA:84093": "Hereditary thermosensitive neuropathy", "ORPHA:84096": "OBSOLETE: Unknown leukodystrophy", "ORPHA:85186": "Endosteal sclerosis-cerebellar hypoplasia syndrome", "ORPHA:85182": "Diaphyseal medullary stenosis-bone malignancy syndrome / Bone dysplasia-medullary fibrosarcoma syndrome / Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome / Hardcastle syndrome", "ORPHA:98118": "OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly", "ORPHA:98119": "OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly", "ORPHA:98120": "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly", "ORPHA:98121": "OBSOLETE: Cys-loop receptor channelopathy", "ORPHA:603448": "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome / CIMDAG syndrome", "ORPHA:98122": "OBSOLETE: Channelopathy due to a neuronal glycine receptor defect", "ORPHA:98123": "OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect", "ORPHA:603515": "Isolated female hypospadias", "ORPHA:98124": "OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect", "ORPHA:603494": "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome / COMMAD syndrome", "ORPHA:98125": "OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect", "ORPHA:603689": "KLHL7-related Bohring-Opitz-like syndrome / KLHL7-related BOS-like syndrome", "ORPHA:603684": "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome / PERCHING syndrome", "ORPHA:98127": "Autosomal anomaly syndrome", "ORPHA:603699": "Recessive KLHL7-related disorder", "ORPHA:603694": "KLHL7-related Crisponi/cold-induced sweating-like syndrome / KLHL7-related Crisponi-like syndrome", "ORPHA:98130": "Autosomal trisomy syndrome / Autosomal duplication", "ORPHA:98131": "Total autosomal trisomy syndrome", "ORPHA:98132": "Partial autosomal duplication/triplication syndrome / Partial autosomal trisomy/tetrasomy", "ORPHA:98103": "OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect", "ORPHA:98102": "OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect", "ORPHA:98105": "OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels", "ORPHA:98104": "OBSOLETE: Channelopathy due to a transient receptor potential channel defect", "ORPHA:98107": "OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect", "ORPHA:98106": "OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect", "ORPHA:98109": "OBSOLETE: Non-pore-loop channelopathy", "ORPHA:98108": "OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect", "ORPHA:98111": "OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect", "ORPHA:98110": "OBSOLETE: Channelopathy due to an epithelial sodium channel defect", "ORPHA:98113": "OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly", "ORPHA:98112": "OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect", "ORPHA:98115": "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly", "ORPHA:98114": "OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly", "ORPHA:98117": "OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly", "ORPHA:98116": "OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly", "ORPHA:98152": "Autosomal uniparental disomy syndrome", "ORPHA:98153": "Maternal uniparental disomy syndrome", "ORPHA:98156": "Sex-chromosome number anomaly syndrome / Allosome number anomaly", "ORPHA:98157": "Sex-chromosome structural anomaly syndrome / Allosome structural anomaly", "ORPHA:98154": "Paternal uniparental disomy syndrome", "ORPHA:98155": "Sex-chromosome anomaly syndrome / Allosome anomaly", "ORPHA:98158": "Chromosome Y structural anomaly syndrome", "ORPHA:98159": "Chromosome X structural anomaly syndrome", "ORPHA:98141": "Total autosomal monosomy syndrome", "ORPHA:98142": "Partial autosomal deletion syndrome / Partial autosomal monosomy", "ORPHA:98058": "Rare urinary tract tumor / Rare urinary tract cancer / Rare urinary tract neoplasm", "ORPHA:98059": "Rare digestive tumor / Rare digestive cancer / Rare digestive neoplasm", "ORPHA:98060": "Rare respiratory tumor / Rare respiratory cancer / Rare respiratory neoplasm", "ORPHA:98061": "Rare otorhinolaryngologic tumor / Rare ORL cancer / Rare ORL neoplasm / Rare ORL tumor", "ORPHA:98054": "Rare genetic cardiac disease", "ORPHA:98056": "Rare genetic renal disease", "ORPHA:98057": "Rare tumor / Rare neoplasm", "ORPHA:610573": "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome", "ORPHA:98068": "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly", "ORPHA:98069": "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy", "ORPHA:98062": "Rare nervous system tumor / Rare nervous system neoplasm", "ORPHA:98063": "Rare gynecological tumor / Rare gynaecological cancer / Rare gynaecological neoplasm", "ORPHA:610569": "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome / Alkuraya-Kucinskas syndrome", "ORPHA:98064": "OBSOLETE: Rare disease in physical medicine and rehabilitation", "ORPHA:98043": "Diaphragmatic or abdominal wall malformation", "ORPHA:98045": "Respiratory or mediastinal malformation", "ORPHA:604680": "Symptomatic form of X-linked centronuclear myopathy in female carriers / Symptomatic form of X-linked myotubular myopathy in female carriers / Symptomatic form of XLCNM in female carriers / Symptomatic form of XLMTM in female carriers", "ORPHA:98044": "Central nervous system malformation", "ORPHA:98039": "Digestive tract malformation", "ORPHA:98038": "Cranial malformation", "ORPHA:98041": "Visceral malformation of the liver, biliary tract, pancreas or spleen", "ORPHA:98050": "Rare allergic disease / Rare allergy", "ORPHA:98053": "Rare genetic disease", "ORPHA:98052": "Rare allergic respiratory disease / Rare respiratory allergy", "ORPHA:98047": "Rare infertility", "ORPHA:98049": "Rare female infertility", "ORPHA:98048": "Rare male infertility", "ORPHA:98086": "46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue / 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue", "ORPHA:98087": "Syndrome with 46,XY difference of sex development / Syndrome with 46,XY DSD / Syndrome with 46,XY disorder of sex development", "ORPHA:98101": "OBSOLETE: Pore-loop channelopathy", "ORPHA:98098": "Autosomal recessive degenerative and progressive cerebellar ataxia", "ORPHA:98099": "Autosomal recessive syndromic cerebellar ataxia", "ORPHA:98096": "Autosomal recessive metabolic cerebellar ataxia", "ORPHA:98097": "Autosomal recessive cerebellar ataxia due to a DNA repair defect", "ORPHA:98095": "Autosomal recessive congenital cerebellar ataxia", "ORPHA:611256": "Pontocerebellar hypoplasia type 12 / COASY-related pontocerebellar hypoplasia / PCH12", "ORPHA:611314": "Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome", "ORPHA:611237": "Parkinsonism with polyneuropathy", "ORPHA:611247": "Pontocerebellar hypoplasia type 11 / PCH11 / Pontocerebellar hypoplasia due to TBC1D23", "ORPHA:98074": "Gonadal dysgenesis of gynecological interest", "ORPHA:611216": "Aplastic anemia-intellectual disability-dwarfism syndrome / AMeD syndrome", "ORPHA:98073": "OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia", "ORPHA:611223": "EN1-related dorsoventral syndrome / ENDOVE syndrome / ENDOVES", "ORPHA:611201": "Oculogastrointestinal-neurodevelopmental syndrome / OGIN Syndrome", "ORPHA:98071": "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation", "ORPHA:611207": "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome / SHILCA syndrome", "ORPHA:98070": "OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine", "ORPHA:613267": "Pontocerebellar hypoplasia type 13 / PCH13", "ORPHA:98085": "46,XY difference of sex development / 46,XY DSD / 46,XY disorder of sex development", "ORPHA:613274": "Pontocerebellar hypoplasia type 14 / PCH14", "ORPHA:611327": "Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability / Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism", "ORPHA:98078": "46,XX difference of sex development induced by androgens excess / 46,XX DSD induced by androgens excess / 46,XX disorder of sex development induced by androgens excess", "ORPHA:98255": "Chronic encephalitis", "ORPHA:98258": "Infantile epilepsy syndrome", "ORPHA:98257": "Neonatal epilepsy syndrome", "ORPHA:98260": "Adolescent-onset epilepsy syndrome", "ORPHA:98259": "Childhood-onset epilepsy syndrome", "ORPHA:98261": "Progressive myoclonic epilepsy / PME / Progressive myoclonus epilepsy", "ORPHA:98249": "Ehlers-Danlos syndrome / EDS", "ORPHA:600832": "Legionella infection / Legionellosis", "ORPHA:98252": "Infectious encephalitis", "ORPHA:98253": "OBSOLETE: Postinfectious encephalitis", "ORPHA:600668": "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome", "ORPHA:600663": "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance", "ORPHA:600691": "Combined deficiency of factor VII and factor X", "ORPHA:600731": "Clark-Baraitser syndrome", "ORPHA:98290": "Immunodeficiency-associated lymphoproliferative disease", "ORPHA:98289": "Dendritic cell tumor", "ORPHA:98288": "Macrophage or histiocytic tumor", "ORPHA:98287": "Histiocytic and dendritic cell tumor", "ORPHA:98291": "Lymphoproliferative disease associated with primary immune disease", "ORPHA:98282": "Plasma cell tumor", "ORPHA:98274": "Myeloproliferative neoplasm / MPD / MPN / Myeloproliferative disorder", "ORPHA:98277": "Acute myeloid leukemia with recurrent genetic anomaly / AML with recurrent genetic anomaly", "ORPHA:98275": "Myelodysplastic/myeloproliferative disease", "ORPHA:98267": "Genetic non-syndromic obesity / Monogenic obesity due to a leptin-melanocortin pathway anomaly", "ORPHA:98196": "Malformation syndrome with hamartosis / Dysmorphologic diseases with phakomatosis", "ORPHA:601028": "Non-syndromic anorectal malformation with rectovaginal fistula / Non-syndromic ARM with rectovaginal fistula", "ORPHA:601033": "Non-syndromic anorectal malformation with H-type fistula / Non-syndromic ARM with H-type fistula", "ORPHA:601008": "Non-syndromic anorectal malformation with anal stenosis / Non-syndromic ARM with anal stenosis", "ORPHA:601013": "Non-syndromic anorectal malformation with pouch colon / Non-syndromic ARM with pouch colon", "ORPHA:601018": "Non-syndromic anorectal malformation with rectal atresia / Non-syndromic ARM with rectal atresia", "ORPHA:601023": "Non-syndromic anorectal malformation with rectal stenosis / Non-syndromic ARM with rectal stenosis", "ORPHA:600984": "Non-syndromic anorectal malformation with rectovesical fistula / Non-syndromic ARM with bladder neck fistula / Non-syndromic ARM with rectovesical fistula / Non-syndromic anorectal malformation with bladder neck fistula", "ORPHA:600993": "Non-syndromic anorectal malformation with vestibular fistula / Non-syndromic ARM with vestibular fistula", "ORPHA:600998": "Non-syndromic cloacal malformation", "ORPHA:601002": "Non-syndromic anorectal malformation without fistula / Non-syndromic ARM without fistula / Non-syndromic anorectal malformation with no fistula", "ORPHA:600961": "Non-syndromic anorectal malformation with rectourethral fistula / Non-syndromic ARM with rectourethral fistula", "ORPHA:600952": "Non-syndromic anorectal malformation with perineal fistula / Non-syndromic ARM with cutaneous fistula / Non-syndromic ARM with perineal fistula / Non-syndromic anorectal malformation with cutaneous fistula", "ORPHA:600975": "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type / Non-syndromic ARM with rectoprostatic fistula / Non-syndromic ARM with rectourethral fistula, prostatic type / Non-syndromic anorectal malformation with rectoprostatic fistula", "ORPHA:600966": "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type / Non-syndromic ARM with rectobulbar fistula / Non-syndromic ARM with rectourethral fistula, bulbar type / Non-syndromic anorectal malformation with rectobulbar fistula", "ORPHA:98167": "OBSOLETE: Diabetes associated to exocrine pancreas neoplasia", "ORPHA:98203": "Combined dystonia / Dystonia-plus syndrome", "ORPHA:98204": "OBSOLETE: Heredodegenerative disease with dystonia as a major feature", "ORPHA:97245": "Congenital myopathy", "ORPHA:97242": "Congenital muscular dystrophy / CMD / MDC", "ORPHA:97253": "Neuroendocrine tumor of pancreas / PNET / Pancreatic NET / Pancreatic neuroendocrine tumor / Well-differentiated NEN of pancreas / Well-differentiated neuroendocrine neoplasm of pancreas / Well-differentiated pancreatic NEN / Well-differentiated pancreatic neuroendocrine neoplasm", "ORPHA:97252": "Mega-cisterna magna", "ORPHA:97249": "Pontocerebellar hypoplasia type 3 / Cerebellar atrophy with progressive microcephaly / PCH3", "ORPHA:97275": "Encephalitis", "ORPHA:97293": "Rare benign ovarian tumor", "ORPHA:97295": "Furlong syndrome / Marfanoid habitus-craniosynostosis syndrome", "ORPHA:97292": "Cardiogenic shock", "ORPHA:97338": "Melanoma of soft tissue / Clear cell sarcoma of the tendons and aponeuroses", "ORPHA:97339": "Dural sinus malformation / Cranial dural arteriovenous fistula / Cranial dural arteriovenous malformations", "ORPHA:97340": "Hunter-McAlpine syndrome", "ORPHA:97342": "OBSOLETE: Argyrophilic grain disease / OBSOLETE: Braak disease", "ORPHA:97346": "ADan amyloidosis / Familial dementia, Danish type", "ORPHA:97345": "ABri amyloidosis / Familial dementia, British type", "ORPHA:97352": "Pellagra", "ORPHA:97354": "NON RARE IN EUROPE: Wernicke encephalopathy / NON RARE IN EUROPE: Dementia due to thiamine deficiency", "ORPHA:97353": "Dementia pugilistica / Boxer's dementia / Chronic traumatic encephalopathy / Punch-drunk syndrome", "ORPHA:97360": "Robinow syndrome / Acral dysostosis with facial and genital abnormalities / Fetal face syndrome / Mesomelic dwarfism-small genitalia syndrome / Robinow dwarfism / Robinow-Silverman-Smith syndrome", "ORPHA:97361": "Renal hypoplasia, unilateral", "ORPHA:97362": "Renal hypoplasia, bilateral", "ORPHA:97363": "Unilateral multicystic dysplastic kidney / Unilateral MCDK / Unilateral multicystic renal dysplasia", "ORPHA:97364": "Bilateral multicystic dysplastic kidney / Bilateral MCDK / Bilateral multicystic renal dysplasia", "ORPHA:97365": "NON RARE IN EUROPE: Solitary renal cyst / NON RARE IN EUROPE: Simple kidney cyst", "ORPHA:97366": "Multiloculated renal cyst / Multilocular cyst of the kidney / Multilocular renal cyst", "ORPHA:97367": "Renal tubular dysgenesis due to twin-twin transfusion", "ORPHA:97368": "Drug-related renal tubular dysgenesis", "ORPHA:97369": "Renal tubular dysgenesis of genetic origin", "ORPHA:97548": "Right sided atrial isomerism / Isomerism of right atrial appendage / Ivemark syndrome / RAI", "ORPHA:97552": "Steroid-sensitive nephrotic syndrome without renal biopsy", "ORPHA:97555": "OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy", "ORPHA:97556": "Congenital and infantile nephrotic syndrome", "ORPHA:97557": "NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis / NON RARE IN EUROPE: Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome", "ORPHA:97560": "Primary membranous glomerulonephritis / Idiopathic membranous glomerulonephritis / Primary membranous nephropathy", "ORPHA:96182": "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 / UPD(7)mat", "ORPHA:96178": "Ring chromosome 16 syndrome / Ring 16", "ORPHA:96177": "Ring chromosome 15 syndrome / Ring 15", "ORPHA:96188": "Maternal uniparental disomy of chromosome 22 syndrome / UPD(22)mat", "ORPHA:96187": "Maternal uniparental disomy of chromosome 21 syndrome / UPD(21)mat", "ORPHA:96186": "Maternal uniparental disomy of chromosome 20 syndrome / Maternal UPD(20) / UPD(20)mat", "ORPHA:96185": "Maternal uniparental disomy of chromosome 16 syndrome / UPD(16)mat", "ORPHA:96184": "Temple syndrome due to maternal uniparental disomy of chromosome 14 / UPD(14)mat", "ORPHA:96194": "Paternal uniparental disomy of chromosome 20 syndrome / Paternal UPD(20) / UPD(20)pat", "ORPHA:96195": "Paternal uniparental disomy of chromosome 21 syndrome / UPD(21)pat", "ORPHA:96192": "Paternal uniparental disomy of chromosome 7 syndrome / UPD(7)pat", "ORPHA:96193": "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 / Mosaic paternal uniparental disomy of chromosome 11 / UPD(11)pat", "ORPHA:96256": "Somatotropic adenoma / Somatotropinoma", "ORPHA:96210": "Rare genetic deafness / Rare genetic hearing loss", "ORPHA:96321": "Polyploidy syndrome", "ORPHA:96269": "Isolated partial vaginal agenesis / Congenital absence of vagina", "ORPHA:96266": "Leydig cell hypoplasia due to partial LH resistance / 46,XY DSD due to partial LH receptor inactivation / 46,XY DSD due to partial LH resistance / 46,XY DSD due to partial luteinizing hormone resistance / 46,XY disorder of sex developement due to partial LH receptor inactivation / 46,XY disorder of sex developement due to partial LH resistance / 46,XY disorder of sex developement due to partial luteinizing hormone resistance / Leydig cell hypoplasia due to partial LH receptor inactivation / Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation / Leydig cell hypoplasia due to partial luteinizing hormone resistance", "ORPHA:96265": "Leydig cell hypoplasia due to complete LH resistance / 46,XY DSD due to complete LH receptor inactivation / 46,XY DSD due to complete LH resistance / 46,XY DSD due to complete luteinizing hormone receptor inactivation / 46,XY DSD due to complete luteinizing hormone resistance / 46,XY disorder of sex development due to complete LH receptor inactivation / 46,XY disorder of sex development due to complete LH resistance / 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation / 46,XY disorder of sex development due to complete luteinizing hormone resistance / Leydig cell hypoplasia due to complete LH receptor inactivation / Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation / Leydig cell hypoplasia due to complete luteinizing hormone resistance", "ORPHA:96344": "Rare gynecologic or obstetric disease", "ORPHA:96346": "Anorectal malformation / ARM", "ORPHA:96325": "Isochromosome Y syndrome", "ORPHA:96334": "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 / UPD(14)pat", "ORPHA:96333": "Rare otorhinolaryngological malformation", "ORPHA:97120": "Distal arthrogryposis", "ORPHA:97234": "Glycogen storage disease due to phosphoglycerate mutase deficiency / DiMauro disease / GSD due to phosphoglycerate mutase 2 deficiency / GSD type 10 / Glycogen storage disease due to PGAM2 deficiency / Glycogen storage disease due to phosphoglycerate mutase 2 deficiency / Glycogen storage disease, type 10 / Glycogen storage disease, type X / Glycogenosis due to phosphoglycerate mutase 2 deficiency / Muscle phosphoglycerate mutase deficiency / Myopathy due to phosphoglycerate mutase deficiency / PGAM deficiency / PGAM-M deficiency", "ORPHA:97238": "Rippling muscle disease", "ORPHA:97239": "Reducing body myopathy", "ORPHA:97231": "Ligneous conjunctivitis / Conjunctivitis lignosa", "ORPHA:97232": "Fingerprint body myopathy", "ORPHA:97978": "Rare endocrine disease", "ORPHA:98004": "Rare immune disease", "ORPHA:97992": "Rare hematologic disease", "ORPHA:98006": "Rare neurologic disease / Rare nervous system disease", "ORPHA:600194": "Factor V Atlanta bleeding disorder / FV Atlanta bleeding disorder", "ORPHA:98010": "Infectious disease of the nervous system", "ORPHA:98033": "Rare neurologic disease with psychiatric involvement", "ORPHA:98036": "Rare otorhinolaryngologic disease", "ORPHA:98023": "Rare systemic or rheumatologic disease", "ORPHA:98022": "Rare headache", "ORPHA:98027": "Rare disease with odontological manifestation", "ORPHA:98026": "Rare odontologic disease", "ORPHA:97678": "Maternal uniparental disomy of chromosome 13 syndrome / UPD(13)mat", "ORPHA:97599": "OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis", "ORPHA:97668": "OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency", "ORPHA:97598": "Congenital renal artery stenosis / Congenital renovascular hypoplasia", "ORPHA:97593": "Pseudohypoparathyroidism", "ORPHA:97567": "Immunotactoid glomerulopathy / Immunotactoid glomerulonephritis", "ORPHA:97569": "OBSOLETE: Unclassified glomerulonephritis", "ORPHA:97564": "Pauci-immune glomerulonephritis without ANCA / Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis / Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody", "ORPHA:97566": "Non-amyloid fibrillary glomerulopathy / Congo red-negative amyloidosis-like glomerulopathy / Non-amyloid fibrillary glomerulonephritis", "ORPHA:97562": "NON RARE IN EUROPE: Benign familial hematuria", "ORPHA:97563": "Pauci-immune glomerulonephritis with ANCA / Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody", "ORPHA:97935": "Rare gastroenterologic disease", "ORPHA:97929": "Rare cardiac disease", "ORPHA:97927": "OBSOLETE: Peripheral resistance to thyroid hormones", "ORPHA:97955": "Rare respiratory disease", "ORPHA:97945": "Intestinal malformation", "ORPHA:97944": "Gastroduodenal malformation", "ORPHA:97966": "Rare ophthalmic disorder", "ORPHA:97962": "Rare surgical thoracic disease", "ORPHA:97965": "Rare surgical cardiac disease", "ORPHA:97957": "Respiratory or thoracic malformation", "ORPHA:95708": "Rare precocious puberty", "ORPHA:95706": "Non-syndromic posterior hypospadias / Hypospadias, severe form / Perineal, scrotal or penoscrotal hypospadias", "ORPHA:95701": "OBSOLETE: Congenital adrenal hypoplasia of maternal cause", "ORPHA:95702": "X-linked adrenal hypoplasia congenita / X-linked AHC / X-linked congenital adrenal hypoplasia", "ORPHA:95714": "Primary congenital hypothyroidism without thyroid developmental anomaly", "ORPHA:95711": "Congenital hypothyroidism due to developmental anomaly / Primary congenital hypothyroidism due to developmental anomaly", "ORPHA:95709": "Rare acquired premature ovarian failure", "ORPHA:95710": "Rare non-acquired premature ovarian failure", "ORPHA:95622": "OBSOLETE: Radiation-induced hypopituitarism", "ORPHA:95621": "OBSOLETE: Postsurgical hypopituitarism", "ORPHA:95618": "Pituitary hormone deficiency secondary to storage disease", "ORPHA:95617": "Pituitary hormone deficiency secondary to a granulomatous disease", "ORPHA:95615": "OBSOLETE: Pituitary deficiency secondary to an anevrysm", "ORPHA:95614": "OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage", "ORPHA:95700": "Familial adrenal hypoplasia with absent pituitary luteinizing hormone / Familial adrenal hypoplasia with absent pituitary LH / Familial adrenal hypoplasia, miniature type", "ORPHA:95698": "NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency / NON RARE IN EUROPE: NCAH", "ORPHA:95625": "OBSOLETE: Posttraumatic diabetes insipidus", "ORPHA:95623": "OBSOLETE: Posttraumatic hypopituitarism", "ORPHA:95504": "OBSOLETE: Metastatic pituitary hormone deficiency", "ORPHA:95505": "Pituitary hormone deficiency of meningeal origin", "ORPHA:95506": "Primary hypophysitis / Autoimmune hypophysitis", "ORPHA:95507": "Congenital anomaly of hepatic vein", "ORPHA:95500": "Congenital anomaly of the coronary sinus", "ORPHA:95501": "OBSOLETE: Congenital central diabetes insipidus", "ORPHA:95502": "Acquired pituitary hormone deficiency", "ORPHA:95503": "Pituitary hormone deficiency of tumoral origin", "ORPHA:95611": "Pituitary hormone deficiency of vascular origin", "ORPHA:95510": "Atrial appendage anomaly / Atrial auricle anomaly", "ORPHA:95488": "Non-acquired pituitary hormone deficiency", "ORPHA:95491": "Congenital coronary artery aneurysm / Congenital coronary aneurysm", "ORPHA:95485": "Arterial duct anomaly / Patent ductus arteriosus anomalies", "ORPHA:95484": "OBSOLETE: Aneurysm or dilatation of ascending aorta", "ORPHA:95487": "NON RARE IN EUROPE: Atypical arterial duct / NON RARE IN EUROPE: Atypical patent ductus arteriosus", "ORPHA:95486": "Premature closure of the arterial duct / Premature closure of the patent ductus arteriosus", "ORPHA:95499": "Congenital anomaly of the inferior vena cava / Congenital anomaly of the IVC / Congenital anomaly of the inferior caval vein", "ORPHA:95498": "Congenital anomaly of superior vena cava / Congenital anomaly of superior caval vein / Congenital anomaly of the SVC", "ORPHA:95493": "OBSOLETE: Abnormal origin or aberrant course of coronary artery", "ORPHA:95495": "Disease associated with non-acquired combined pituitary hormone deficiency", "ORPHA:95443": "Mesocardia / Midline heart", "ORPHA:95448": "Congenital aortic valve atresia", "ORPHA:95457": "Tricuspid valve agenesis / Congenital unguarded tricuspid orifice", "ORPHA:95458": "OBSOLETE: Tricuspid valve prolapse", "ORPHA:95449": "OBSOLETE: Congenital aortic valve insufficiency", "ORPHA:95462": "Accessory tricuspid valve tissue", "ORPHA:95463": "Anomaly of the tricuspid subvalvular apparatus", "ORPHA:95461": "Straddling or overriding tricuspid valve", "ORPHA:95474": "Double-orifice mitral valve", "ORPHA:95483": "Univentricular cardiopathy", "ORPHA:95464": "Congenital mitral valve insufficiency and/or stenosis", "ORPHA:95465": "Cleft mitral valve", "ORPHA:95157": "Acute hepatic porphyria", "ORPHA:95161": "OBSOLETE: Chronic hepatic porphyria", "ORPHA:95426": "OBSOLETE: Chronic pain requiring intraspinal analgesia", "ORPHA:95432": "Primary progressive aphasia / Mesulam syndrome / PPA", "ORPHA:95431": "Twin to twin transfusion syndrome / Feto-fetal transfusion syndrome", "ORPHA:95430": "Congenital tracheomalacia / Congenital major airway collapse", "ORPHA:94091": "Mills syndrome", "ORPHA:94095": "OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome / OBSOLETE: Casamassima-Morton-Nance syndrome", "ORPHA:94145": "Autosomal dominant cerebellar ataxia type I / ADCA1 / ADCAI / Autosomal dominant cerebellar ataxia type 1 / Cerebellar plus syndrome", "ORPHA:94148": "Autosomal dominant cerebellar ataxia type III / ADCA3 / ADCAIII / Autosomal dominant cerebellar ataxia type 3 / Pure cerebellar syndrome-mild pyramidal signs syndrome", "ORPHA:94149": "Autosomal dominant cerebellar ataxia type IV / ADCA4 / ADCAIV / Autosomal dominant cerebellar ataxia type 4", "ORPHA:94150": "Anonychia congenita totalis", "ORPHA:94075": "Severe immune-mediated enteropathy / Autoimmune enteropathy / Immune-mediated protracted diarrhea of infancy", "ORPHA:94084": "Cerebro-oculo-facial-lymphatic syndrome / Fryns-Aftimos syndrome", "ORPHA:94087": "Cytophagic histiocytic panniculitis / CHP / Winkelmann cytophagic panniculitis", "ORPHA:96175": "Ring chromosome 11 syndrome / RC11 / Ring 11 / r(11) syndrome", "ORPHA:96173": "Ring chromosome 9 syndrome / Ring 9", "ORPHA:96172": "Ring chromosome 3 syndrome / Ring 3", "ORPHA:96171": "Ring chromosome 2 syndrome / Ring 2", "ORPHA:96164": "OBSOLETE: Non-distal monosomy 20q / OBSOLETE: Non-distal deletion 20q / OBSOLETE: Non-telomeric monosomy 20q", "ORPHA:96160": "Non-distal deletion 12q syndrome / Non-distal monosomy 12q / Non-telomeric monosomy 12q", "ORPHA:96152": "OBSOLETE: Distal monosomy 20q / OBSOLETE: Distal deletion 20q / OBSOLETE: Monosomy 20qter / OBSOLETE: Telomeric deletion 20q", "ORPHA:96150": "Distal deletion 14q syndrome / Distal monosomy 14q / Telomeric deletion 14q", "ORPHA:96145": "Distal deletion 4q syndrome / Distal monosomy 4q / Monosomy 4qter / Telomeric deletion 4q", "ORPHA:96136": "OBSOLETE: Non-distal monosomy 7p / OBSOLETE: Non-distal deletion 7p / OBSOLETE: Non-telomeric monosomy 7p", "ORPHA:96126": "Distal deletion 7p syndrome / Distal monosomy 7p / Monosomy 7pter / Telomeric deletion 7p", "ORPHA:96112": "Non-distal duplication 9q syndrome / Non-distal trisomy 9q / Non-telomeric trisomy 9q", "ORPHA:96107": "Distal duplication 20q syndrome / Distal trisomy 20q / Telomeric duplication 20q / Trisomy 20qter", "ORPHA:96106": "Distal duplication 16q syndrome / Distal trisomy 16q / Telomeric duplication 16q / Trisomy 16qter", "ORPHA:96105": "Distal duplication 13q syndrome / Distal trisomy 13q / Telomeric duplication 13q / Trisomy 13qter", "ORPHA:96109": "Distal duplication 22q syndrome / Distal trisomy 22q / Telomeric duplication 22q / Trisomy 22qter", "ORPHA:96098": "Distal duplication 6q syndrome / Distal trisomy 6q / Telomeric duplication 6q / Trisomy 6qter", "ORPHA:96096": "Distal duplication 4q syndrome / Distal trisomy 4q / Telomeric duplication 4q / Trisomy 4qter", "ORPHA:96103": "Distal duplication 11q syndrome / Distal trisomy 11q / Telomeric duplication 11q / Trisomy 11qter", "ORPHA:96102": "Distal duplication 10q syndrome / Distal trisomy 10q / Telomeric duplication 10q / Trisomy 10qter", "ORPHA:96101": "Distal duplication 9q syndrome / Distal trisomy 9q / Telomeric duplication 9q / Trisomy 9qter", "ORPHA:96100": "Distal duplication 8q syndrome / Distal trisomy 8q / Telomeric duplication 8q / Trisomy 8qter", "ORPHA:96094": "Distal duplication 2q syndrome / Distal trisomy 2q / Telomeric duplication 2q / Trisomy 2qter", "ORPHA:96095": "3q26 microduplication syndrome / Dup(3)(q26) / Dup(3q) syndrome / Trisomy 3q26", "ORPHA:96072": "4p16.3 microduplication syndrome / Distal duplication 4p / Distal trisomy 4p / Telomeric duplication 4p / Trisomy 4pter", "ORPHA:96074": "Distal duplication 7p syndrome / Distal trisomy 7p / Telomeric duplication 7p / Trisomy 7pter", "ORPHA:96076": "Beckwith-Wiedemann syndrome due to 11p15 microduplication", "ORPHA:96078": "16p13.3 microduplication syndrome / Distal duplication 16p / Distal trisomy 16p / Dup(16)(p13.3) / Telomeric duplication 16p / Trisomy 16pter", "ORPHA:96069": "Distal duplication 1p36 syndrome / Distal trisomy 1p36 / Telomeric duplication 1p36 / Trisomy 1pter", "ORPHA:96068": "Mosaic trisomy 22 syndrome / Mosaic trisomy chromosome 22 / Trisomy 22 mosaicism", "ORPHA:96071": "Distal duplication 3p syndrome / Distal trisomy 3p / Telomeric duplication 3p / Trisomy 3pter", "ORPHA:96070": "Distal duplication 2p syndrome / Distal trisomy 2p / Telomeric duplication 2p / Trisomy 2pter", "ORPHA:96059": "Mosaic trisomy 4 syndrome / Mosaic trisomy chromosome 4 / Trisomy 4 mosaicism", "ORPHA:96060": "Mosaic trisomy 5 syndrome / Mosaic trisomy chromosome 5 / Trisomy 5 mosaicism", "ORPHA:96063": "Mosaic trisomy 10 syndrome / Mosaic trisomy chromosome 10 / Trisomy 10 mosaicism", "ORPHA:95718": "Congenital thyroid malformation without hypothyroidism", "ORPHA:95721": "OBSOLETE: Thyroid pyramidal lobe", "ORPHA:95854": "Levocardia / Isolated levocardia / Levocardia with situs inversus", "ORPHA:96055": "Tetrasomy 21 syndrome / Isochromosome 21", "ORPHA:597623": "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome", "ORPHA:93547": "Syndromic renal or urinary tract malformation", "ORPHA:93546": "Non-syndromic renal or urinary tract malformation", "ORPHA:597733": "Oculocutaneous albinism type 8 / OCA8", "ORPHA:597738": "Luscan-Lumish syndrome / SETD2-related overgrowth syndrome", "ORPHA:93548": "Glomerular disease", "ORPHA:93545": "Renal or urinary tract malformation / CAKUT / Congenital anomalies of kidney and urinary tract", "ORPHA:597887": "ALPI-related inflammatory bowel disease", "ORPHA:93555": "Mixed cryoglobulinemia type III / MC type III", "ORPHA:93554": "Mixed cryoglobulinemia type II / MC type II", "ORPHA:93557": "Light and heavy chain deposition disease / LHCDD", "ORPHA:597939": "Euthyroid dysprealbuminemic hyperthyroxinemia / Euthyroid dystransthyretinemic hyperthyroxinemia", "ORPHA:93556": "Heavy chain deposition disease / HCDD", "ORPHA:597743": "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome", "ORPHA:93551": "OBSOLETE: Secondary glomerular disease", "ORPHA:597746": "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome", "ORPHA:93550": "OBSOLETE: Basement membrane disease", "ORPHA:597749": "KAT6B-related multiple congenital anomalies syndrome / KAT6B-related disorder", "ORPHA:597874": "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome", "ORPHA:93562": "AFib amyloidosis / Familial amyloid nephropathy due to fibrinogen A alpha-chain variant / Fibrinogen A alpha-chain amyloidosis / Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant / Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant", "ORPHA:598216": "Upper tract urothelial carcinoma / Transitional cell carcinoma of the pelvis and ureter / Transitional cell carcinoma of the upper urinary tract / UTUC", "ORPHA:93564": "OBSOLETE: Pediatric polyarteritis nodosa / OBSOLETE: PAN, pediatric onset", "ORPHA:598603": "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome / FHEIG syndrome", "ORPHA:598363": "Multisystem inflammatory syndrome in children and adults / MIS-C/A", "ORPHA:93558": "Light chain deposition disease / LCDD", "ORPHA:93559": "C3 deposition glomerulonephritis without proliferation", "ORPHA:598164": "FOXG1 syndrome due to intragenic alteration", "ORPHA:93560": "AApoAI amyloidosis / Apolipoprotein A-I amyloidosis / Familial amyloid nephropathy due to apolipoprotein A-I variant / Familial renal amyloidosis due to apolipoprotein A-I variant / Hereditary amyloid nephropathy due to apolipoprotein A-I variant / Hereditary renal amyloidosis due to apolipoprotein A-I variant", "ORPHA:93561": "ALys amyloidosis / Familial amyloid nephropathy due to lysozyme variant / Familial renal amyloidosis due to lysozyme variant / Hereditary amyloid nephropathy due to lysozyme variant / Hereditary renal amyloidosis due to lysozyme variant / Lysozyme amyloidosis", "ORPHA:93571": "Dense deposit disease / Membranoproliferative glomerulonephritis type 2", "ORPHA:93573": "Thrombotic microangiopathy / TMA", "ORPHA:93566": "OBSOLETE: Pediatric Sjögren syndrome", "ORPHA:93567": "OBSOLETE: Pediatric systemic sclerosis / OBSOLETE: Pediatric systemic scleroderma", "ORPHA:93568": "Juvenile polymyositis / Juvenile PM", "ORPHA:93569": "NON RARE IN EUROPE: Polymyalgia rheumatica / NON RARE IN EUROPE: Rhizomelic pseudopolyarthritis", "ORPHA:93448": "Lysosomal storage disease with skeletal involvement / Dysostosis multiplex", "ORPHA:597201": "TRIM22-related inflammatory bowel disease / TRIM22-related IBD", "ORPHA:93447": "Primary bone dysplasia with defective bone mineralization / Primary osteodysplasia with defective bone mineralization / Primary skeletal dysplasia with defective bone mineralization", "ORPHA:93446": "Primary bone dysplasia with decreased bone density / Primary osteodysplasia with decreased bone density / Primary skeletal dysplasia with decreased bone density", "ORPHA:93445": "OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement", "ORPHA:93444": "Primary bone dysplasia with increased bone density / Primary osteodysplasia with increased bone density / Primary skeletal dysplasia with increased bone density / Sclerosing bone dysplasia", "ORPHA:93443": "Neonatal osteosclerotic dysplasia", "ORPHA:93442": "Chondrodysplasia punctata / CDP", "ORPHA:93441": "Primary bone dysplasia with multiple joint dislocations / Primary osteodysplasia with multiple joint dislocations / Primary skeletal dysplasia with multiple joint dislocations", "ORPHA:93456": "OBSOLETE: Brachydactyly group / OBSOLETE: Brachydactyly with or without extraskeletal manifestations", "ORPHA:93455": "Patellar dysostosis", "ORPHA:93454": "Dysostosis with predominant vertebral and costal involvement", "ORPHA:93453": "Dysostosis with predominant craniofacial involvement", "ORPHA:93452": "OBSOLETE: Craniosynostosis syndrome or cranial ossification disease", "ORPHA:93451": "Cleidocranial dysplasia and isolated cranial ossification defect", "ORPHA:93450": "Primary bone dysplasia with disorganized development of skeletal components / Primary osteodysplasia with disorganized development of skeletal components / Primary skeletal dysplasia with disorganized development of skeletal components", "ORPHA:93449": "Primary osteolysis", "ORPHA:93465": "Lethal chondrodysplasia", "ORPHA:93461": "Chromosomal disease with overgrowth", "ORPHA:93459": "Syndrome with synostosis or other joint formation defect", "ORPHA:93460": "Overgrowth syndrome", "ORPHA:93457": "Non-syndromic limb reduction defect / Non-syndromic limb hypoplasia", "ORPHA:93458": "Non-syndromic polydactyly, syndactyly and/or hyperphalangy", "ORPHA:93472": "OBSOLETE: Dysmorphic syndrome associated with bone anomaly", "ORPHA:93470": "OBSOLETE: Dysharmonic micromelia", "ORPHA:93471": "OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly", "ORPHA:93466": "OBSOLETE: Limb-girdle bone anomaly", "ORPHA:93469": "OBSOLETE: Harmonic micromelia", "ORPHA:93399": "Juvenile sialidosis type 2", "ORPHA:93398": "Genochondromatosis type 2", "ORPHA:93400": "Congenital sialidosis type 2", "ORPHA:599373": "STXBP1-related encephalopathy", "ORPHA:599376": "Hypomyelination of early myelinating structures / HEMS", "ORPHA:599418": "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant", "ORPHA:599480": "Acquired hemophilia A / Acquired F8 deficiency / Acquired factor VIII deficiency", "ORPHA:599485": "Acquired hemophilia B / AHB / Acquired F9 deficiency / Acquired factor IX deficiency", "ORPHA:599490": "Acquired factor V deficiency", "ORPHA:599495": "Acquired factor VII deficiency", "ORPHA:599501": "Acquired factor X deficiency / aFX", "ORPHA:93419": "Rare bone disease", "ORPHA:599507": "Acquired factor XI deficiency / aFXI", "ORPHA:599513": "Acquired factor XIII deficiency / aFXIII", "ORPHA:93421": "Type 2 collagen-related bone disorder", "ORPHA:599519": "Factor V short isoforms-related bleeding disorder / FV short isoforms-related bleeding disorder", "ORPHA:93420": "FGFR3-related chondrodysplasia", "ORPHA:599579": "Factor V Amsterdam bleeding disorder / FV Amsterdam bleeding disorder", "ORPHA:93422": "Type 11 collagen-related bone disorder", "ORPHA:93423": "Sulfation-related bone disorder", "ORPHA:93424": "OBSOLETE: Perlecan-related bone disorder", "ORPHA:93425": "Filamin-related bone disorder / Bone filaminopathy", "ORPHA:93426": "Ciliopathies with major skeletal involvement / SRP / Short rib dysplasia", "ORPHA:93427": "OBSOLETE: Metatropic dysplasias", "ORPHA:93429": "Multiple epiphyseal dysplasia and pseudoachondroplasia", "ORPHA:93434": "Spondylodysplastic dysplasia", "ORPHA:93435": "OBSOLETE: Moderate spondylodysplastic dysplasia", "ORPHA:93436": "Acromelic dysplasia", "ORPHA:93437": "Acromesomelic dysplasia", "ORPHA:93438": "Mesomelic and rhizo-mesomelic dysplasia", "ORPHA:93439": "Campomelic dysplasia and related disorders / Bent bone dysplasia", "ORPHA:93440": "Slender bone dysplasia", "ORPHA:93358": "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome", "ORPHA:93365": "OBSOLETE: CINCA syndrome with NLRP3 mutations", "ORPHA:599082": "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome / Snijders Blok-Campeau syndrome", "ORPHA:93367": "OBSOLETE: CINCA syndrome without NLRP3 mutations", "ORPHA:93372": "Familial hypocalciuric hypercalcemia type 1 / FHH type 1", "ORPHA:93382": "Brachydactyly type A6 / Acromesomelic dysplasia, Osebold-Remondini type / Osebold-Remondini syndrome", "ORPHA:93385": "NON RARE IN EUROPE: Brachydactyly type D", "ORPHA:93393": "NON RARE IN EUROPE: Brachydactyly type A3 / NON RARE IN EUROPE: Brachydactyly-clinodactyly / NON RARE IN EUROPE: Brachymesophalangy V", "ORPHA:93389": "Brachydactyly type A5", "ORPHA:93395": "Ballard syndrome / Brachydactyly, combined B and E types / Pitt-Williams brachydactyly", "ORPHA:595356": "Localized dystrophic epidermolysis bullosa / Localized DEB", "ORPHA:93968": "Meningocele", "ORPHA:93969": "Open spinal dysraphism with a myelomeningocele / MMC / Myelomeningocele", "ORPHA:93962": "OBSOLETE: Cervical dystonia", "ORPHA:93963": "OBSOLETE: Autosomal dominant focal dystonia, DYT7 type / OBSOLETE: Adult-onset focal torsion dystonia / OBSOLETE: Adult-onset idiopathic torsion dystonia / OBSOLETE: DYT7", "ORPHA:595351": "Epidermolysis bullosa simplex with extracutaneous involvement / EBS with extracutaneous involvement", "ORPHA:93964": "Blepharospasm-oromandibular dystonia syndrome / Meige dystonia / Meige syndrome", "ORPHA:595346": "Epidermolysis bullosa simplex without extracutaneous involvement / EBS without extracutaneous involvement", "ORPHA:595216": "Fibrous dysplasia/McCune-Albright syndrome / FD/MAS spectrum / FD/MAS syndrome / Fibrous dysplasia/McCune-Albright spectrum", "ORPHA:93961": "OBSOLETE: Laryngeal dyskinesia / OBSOLETE: Laryngeal dystonia / OBSOLETE: Spasmodic dysphonia", "ORPHA:93955": "OBSOLETE: Benign essential blepharospasm / OBSOLETE: Primary blepharospasm", "ORPHA:93956": "OBSOLETE: Truncal dystonia", "ORPHA:93957": "OBSOLETE: Limb dystonia", "ORPHA:94059": "Uremic pruritus", "ORPHA:94062": "NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome", "ORPHA:94061": "OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome", "ORPHA:94056": "Isolated humero-ulnar synostosis / Isolated congenital humeroulnar fusion", "ORPHA:93975": "OBSOLETE: Renier-Gabreels-Jasper syndrome", "ORPHA:93974": "Smith-Fineman-Myers syndrome", "ORPHA:93976": "Anotia", "ORPHA:93971": "Chudley-Lowry-Hoar syndrome / Chudley-Lowry syndrome", "ORPHA:93970": "Holmes-Gang syndrome", "ORPHA:93973": "Carpenter-Waziri syndrome", "ORPHA:93972": "Juberg-Marsidi syndrome", "ORPHA:93926": "Midline interhemispheric variant of holoprosencephaly / MIH / MIH type HPE / MIHF / MIHV / Middle interhemispheric fusion variant / Middle interhemispheric variant of holoprosencephaly / Syntelencephaly", "ORPHA:93924": "Lobar holoprosencephaly", "ORPHA:93925": "Alobar holoprosencephaly", "ORPHA:93921": "Full schwannomatosis / Full NF3 / Full SWN / Full neurofibromatosis type 3 / Neurilemmomatosis / Nonmosaic schwannomatosis", "ORPHA:93953": "Familial thyroglossal duct cyst", "ORPHA:93951": "OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome", "ORPHA:595133": "Perivascular epithelioid cell neoplasm / PEComa / Perivascular epithelioid tumour", "ORPHA:93950": "X-linked intellectual disability, Sutherland-Haan type", "ORPHA:595098": "Timothy syndrome type 1 / LQT8 type 1 / TS1", "ORPHA:595105": "Timothy syndrome type 2 / LQT8 type 2 / TS2", "ORPHA:93945": "X-linked intellectual disability, Porteous type", "ORPHA:93944": "X-linked intellectual disability, Fichera type", "ORPHA:93943": "Corpus callosum dysgenesis-hypopituitarism syndrome", "ORPHA:93942": "OBSOLETE: Superior celosomia", "ORPHA:93940": "Laryngotracheoesophageal cleft type 3 / LTEC III / LTEC3 / Laryngo-tracheo-esophageal cleft type 3", "ORPHA:93939": "Laryngotracheoesophageal cleft type 2 / LTEC II / LTEC2 / Laryngo-tracheo-esophageal cleft type 2", "ORPHA:93938": "Laryngotracheoesophageal cleft type 1 / LTEC I / LTEC1 / Laryngo-tracheo-esophageal cleft type 1", "ORPHA:93937": "OBSOLETE: Terminal transverse defects of arm / OBSOLETE: Congenital limb amputation", "ORPHA:93626": "Rare renal disease", "ORPHA:93665": "Autoinflammatory syndrome", "ORPHA:93668": "OBSOLETE: Adult chronic recurrent multifocal osteomyelitis / OBSOLETE: Adult CRMO", "ORPHA:93616": "Hemoglobin H disease / Alpha-thalassemia intermedia / HbH disease", "ORPHA:93618": "Rare cause of hypertension", "ORPHA:93619": "Rare renal tumor", "ORPHA:93622": "Dent disease type 1", "ORPHA:93623": "Dent disease type 2", "ORPHA:93682": "OBSOLETE: Pediatric Castleman disease", "ORPHA:93686": "OBSOLETE: Multicentric Castleman disease / OBSOLETE: MCD / OBSOLETE: Multicentric giant lymph node hyperplasia", "ORPHA:93685": "Unicentric Castleman disease / Localized Castleman disease", "ORPHA:93890": "Rare developmental defect during embryogenesis / Malformation syndrome", "ORPHA:93688": "OBSOLETE: Non-idiopathic juvenile arthritis", "ORPHA:93591": "Infantile nephronophthisis / Autosomal recessive infantile NPHP / Autosomal recessive infantile nephronophthisis", "ORPHA:93592": "Juvenile nephronophthisis", "ORPHA:93587": "Genetic cystic renal disease / Hereditary cystic renal disease", "ORPHA:93589": "Late-onset nephronophthisis", "ORPHA:596426": "Syndrome of reduced sensitivity to thyroid hormone", "ORPHA:93593": "Nephropathy secondary to a storage or other metabolic disease", "ORPHA:93594": "OBSOLETE: Alpha-1-antichymotrypsin deficiency", "ORPHA:93578": "OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly / OBSOLETE: Atypical HUS with B factor anomaly / OBSOLETE: D- HUS with B factor anomaly / OBSOLETE: Hemolytic uremic syndrome without diarrhea with B factor anomaly / OBSOLETE: aHUS with B factor anomaly", "ORPHA:596008": "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis", "ORPHA:93579": "OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly / OBSOLETE: Atypical HUS with H factor anomaly / OBSOLETE: D- HUS with H factor anomaly / OBSOLETE: Hemolytic uremic syndrome without diarrhea with H factor anomaly / OBSOLETE: aHUS with H factor anomaly", "ORPHA:93575": "OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly / OBSOLETE: Atypical HUS with C3 anomaly / OBSOLETE: D- HUS with C3 anomaly / OBSOLETE: Hemolytic uremic syndrome without diarrhea with C3 anomaly / OBSOLETE: aHUS with C3 anomaly", "ORPHA:93576": "OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly / OBSOLETE: Atypical HUS with MCP/CD46 anomaly / OBSOLETE: D- HUS with MCP/CD46 anomaly / OBSOLETE: Hemolytic uremic syndrome without diarrhea with MCP/CD46 anomaly / OBSOLETE: aHUS with MCP/CD46 anomaly", "ORPHA:93583": "Congenital thrombotic thrombocytopenic purpura / Congenital ADAMTS-13 deficiency / Congenital TTP / Familial TTP / Upshaw-Schulman syndrome", "ORPHA:93585": "Immune-mediated thrombotic thrombocytopenic purpura / Acquired TTP / Acquired thrombotic thrombocytopenic purpura / Autoimmune thrombotic thrombocytopenic purpura / Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies / aTTP / iTTP", "ORPHA:93580": "OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly / OBSOLETE: Atypical HUS with I factor anomaly / OBSOLETE: D- HUS with I factor anomaly / OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly / OBSOLETE: Partial factor I deficiency / OBSOLETE: aHUS with I factor anomaly", "ORPHA:93581": "Atypical hemolytic uremic syndrome with anti-factor H antibodies / Atypical HUS with anti-factor H antibodies / aHUS with anti-factor H antibodies / aHUS with neutralizing autoantibodies against factor H", "ORPHA:93610": "Distal renal tubular acidosis with anemia / dRTA with anemia", "ORPHA:93609": "Autosomal recessive distal renal tubular acidosis without deafness / AR dRTA without deafness / AR dRTA without hearing loss / Autosomal recessive distal renal tubular acidosis without hearing loss / Distal renal tubular acidosis type 1c / dRTA type 1c", "ORPHA:596759": "Combined immunodeficiency due to RELA haploinsufficiency / CID due to RELA haploinsufficiency / Combined immunodeficiency due to RELA proto-oncogene, NF-kB subunit haploinsufficiency / RAID / RELA-associated inflammatory disease", "ORPHA:93608": "Autosomal dominant distal renal tubular acidosis / AD dRTA", "ORPHA:93607": "Autosomal recessive proximal renal tubular acidosis / AR pRTA / Proximal renal tubular acidosis with ocular abnormalities and intellectual disability", "ORPHA:93614": "Hematological disorder with renal involvement", "ORPHA:93613": "Cystinuria type B", "ORPHA:596937": "Portosinusoidal vascular disease / PSVD", "ORPHA:93612": "Cystinuria type A", "ORPHA:596941": "Incomplete septal cirrhosis / Incomplete septal fibrosis", "ORPHA:93611": "Autosomal recessive distal renal tubular acidosis with deafness / AR dRTA with deafness / AR dRTA with hearing loss / Autosomal recessive distal RTA with deafness / Autosomal recessive distal renal tubular acidosis with hearing loss / Distal renal tubular acidosis type 1b / dRTA type 1b", "ORPHA:93602": "Xanthinuria type II / XDH and AOX dual deficiency / Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency", "ORPHA:93601": "Xanthinuria type I / XDH deficiency / XO deficiency / XOR deficiency / Xanthine dehydrogenase deficiency / Xanthine oxidase deficiency / Xanthine oxidoreductase deficiency", "ORPHA:596448": "IgG4-related systemic disease", "ORPHA:93606": "Nephrogenic syndrome of inappropriate antidiuresis / NSIAD", "ORPHA:596753": "VEXAS syndrome", "ORPHA:93605": "Bartter syndrome type 3 / Bartter syndrome type III", "ORPHA:93604": "OBSOLETE: Antenatal Bartter syndrome / OBSOLETE: Bartter syndrome, furosemide type / OBSOLETE: Bartter syndrome, furosemide-amiloride type / OBSOLETE: Hyperprostaglandin E syndrome", "ORPHA:93603": "Rare renal tubular disease", "ORPHA:99092": "Interventricular septum aneurysm", "ORPHA:99094": "Laubry-Pezzi syndrome / VSD with aortic insufficiency / Ventricular septal defect with aortic insufficiency", "ORPHA:99087": "Coronary ostial stenosis or atresia / COSA / Congenital coronary arterial orifice stenosis or atresia / Congenital stenosis or atresia of a coronary ostium", "ORPHA:99088": "OBSOLETE: Intramural coronary arterial course", "ORPHA:99089": "Abnormal number of coronary ostia", "ORPHA:99090": "Malposition of a coronary ostium", "ORPHA:99084": "Peripheral pulmonary stenosis / Branch pulmonary artery stenosis / Pulmonary branch stenosis", "ORPHA:99085": "OBSOLETE: Coronary artery intramyocardial course", "ORPHA:99086": "OBSOLETE: Aortopulmonary coronary arterial course", "ORPHA:99079": "Cervical aortic arch", "ORPHA:99081": "Right aortic arch", "ORPHA:99082": "Dysphagia lusoria", "ORPHA:99076": "Persistent fifth aortic arch", "ORPHA:99075": "Encircling double aortic arch", "ORPHA:99078": "Neuhauser anomaly", "ORPHA:99077": "Kommerell diverticulum", "ORPHA:99072": "Congenital patent ductus arteriosus aneurysm", "ORPHA:99071": "Aorto-left ventricular tunnel", "ORPHA:99068": "Complete atrioventricular septal defect-tetralogy of Fallot / CAVC-tetralogy of Fallot / Complete AVSD-tetralogy of Fallot / Complete atrioventricular canal defect-tetralogy of Fallot", "ORPHA:99067": "Complete atrioventricular septal defect with ventricular hypoplasia / CAVC with ventricular hypoplasia / Complete AVSD with ventricular hypoplasia / Complete atrioventricular canal defect with ventricular hypoplasia / Complete atrioventricular septal defect with ventricular imbalance / Unbalanced complete atrioventricular canal", "ORPHA:99070": "Aorto-right ventricular tunnel", "ORPHA:99069": "OBSOLETE: Univentricular heart with single atrio-ventricular valve", "ORPHA:99064": "Straddling and/or overriding mitral valve", "ORPHA:99063": "Shone complex", "ORPHA:99066": "OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome / OBSOLETE: CAVC-left heart obstruction syndrome", "ORPHA:99126": "Congenital pulmonary vein atresia / CPVA / Congenital PVA", "ORPHA:99123": "Inferior vena cava interruption without azygos continuation / IVC interruption / Inferior caval vein interruption", "ORPHA:99124": "Congenital partial pulmonary venous return anomaly", "ORPHA:99121": "Azygos continuation of the inferior vena cava / Azygos continuation of the IVC / Azygos continuation of the inferior caval vein / Inferior vena cava interruption with azygos continuation", "ORPHA:99122": "Congenital stenosis of the inferior vena cava / Congenital stenosis of the IVC / Congenital stenosis of the inferior caval vein", "ORPHA:99119": "Right inferior vena cava connecting to left-sided atrium / Right IVC connecting to left-sided atrium / Right inferior caval vein connecting to left-sided atrium", "ORPHA:99120": "Persistent eustachian valve", "ORPHA:99117": "Coronary sinus stenosis", "ORPHA:99118": "Coronary sinus atresia", "ORPHA:99113": "Subaortic course of innominate vein / Subaortic course of brachiocephalic vein", "ORPHA:99114": "Agenesis of the superior vena cava / Absence of the SVC / Absence of the superior caval vein / Absence of the superior vena cava / Agenesis of the SVC / Agenesis of the superior caval vein", "ORPHA:99111": "Persistent left superior vena cava connecting to the roof of left-sided atrium / Persistent left SVC connecting to left-sided atrium / Persistent left SVC connecting to the roof of left-sided atrium / Persistent left superior vena cava connecting to left-sided atrium", "ORPHA:99112": "Absence of innominate vein / Absence of brachiocephalic vein", "ORPHA:99110": "Right superior vena cava connecting to left-sided atrium / Right SVC connecting to left-sided atrium / Right superior caval vein connecting to left-sided atrium", "ORPHA:99109": "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium / Persistent left SVC connecting through coronary sinus to left-sided atrium", "ORPHA:99108": "NON RARE IN EUROPE: Patent foramen ovale", "ORPHA:99107": "Atrial septal aneurysm", "ORPHA:99106": "Atrial septal defect, ostium primum type / ASD, ostium primum type", "ORPHA:99105": "Atrial septal defect, sinus venosus type / ASD, sinus venosus type", "ORPHA:99104": "Atrial septal defect, coronary sinus type / ASD, coronary sinus type / Unroofed coronary sinus", "ORPHA:99103": "Atrial septal defect, ostium secundum type / ASD, ostium secundum type", "ORPHA:99102": "Ectasia of the left atrial appendage / Dilatation of the left atrial appendage / Dilatation of the left auricle / Ectasia of the left auricle", "ORPHA:99101": "Ectasia of the right atrial appendage / Dilatation of the right atrial appendage / Dilatation of the right atrial auricle / Ectasia of the right atrial auricle", "ORPHA:99100": "Juxtaposition of the atrial appendages / Juxtaposition of the atrial auricles", "ORPHA:99099": "Cor triatriatum sinister / Cor triatriatum sinistrum / Divided left atrium", "ORPHA:99098": "Cor triatriatum dexter / Cor triatriatum dextrum / Divided right atrium", "ORPHA:99097": "OBSOLETE: Single ventricular septal defect", "ORPHA:99096": "OBSOLETE: Multiple ventricular septal defects", "ORPHA:99095": "Congenital Gerbode defect / Left ventricular-to-right atrial communication", "ORPHA:99151": "NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging", "ORPHA:99143": "OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome", "ORPHA:99146": "OBSOLETE: Platelet function disease associated with renal insufficiency", "ORPHA:592850": "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies / NMOSD with anti-AQP4 antibodies / Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies", "ORPHA:592856": "Neuromyelitis optica spectrum disorder with anti-MOG antibodies / NMOSD with anti-MOG antibodies / Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies", "ORPHA:99135": "6-phosphogluconate dehydrogenase deficiency", "ORPHA:592869": "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies / NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies / Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies", "ORPHA:99138": "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction", "ORPHA:592873": "Acute transverse myelitis with anti-MOG antibodies / Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies", "ORPHA:592885": "OBSOLETE: Isolated optic neuritis without anti-MOG antibodies / OBSOLETE: Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies", "ORPHA:592888": "OBSOLETE: Isolated optic neuritis with anti-MOG antibodies / OBSOLETE: Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies", "ORPHA:99139": "Unstable hemoglobin disease", "ORPHA:592894": "Acute disseminated encephalomyelitis with anti-MOG antibodies / ADEM with anti-MOG antibodies / Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies", "ORPHA:99142": "Microcephaly-cutis verticis gyrata-lymphedema syndrome", "ORPHA:592900": "Acute disseminated encephalomyelitis without anti-MOG antibodies / Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies", "ORPHA:99141": "Lymphedema-posterior choanal atresia syndrome", "ORPHA:99130": "Congenital partial agenesis of pericardium", "ORPHA:99129": "Congenital complete agenesis of pericardium", "ORPHA:99131": "Pleuro-pericardial cyst", "ORPHA:99134": "OBSOLETE: Intermediate stomatocytosis syndrome", "ORPHA:99324": "Paternal uniparental disomy of chromosome 13 syndrome / UPD(13)pat", "ORPHA:99361": "Familial medullary thyroid carcinoma / Familial MTC", "ORPHA:99177": "Isolated distichiasis", "ORPHA:99176": "Congenital eyelid retraction", "ORPHA:99179": "Kandori fleck retina", "ORPHA:99170": "Tarsal kink syndrome", "ORPHA:99169": "Epiblepharon", "ORPHA:99172": "Euryblepharon", "ORPHA:99171": "Isolated congenital ectropion", "ORPHA:99166": "NON RARE IN EUROPE: Familial combined hyperlipoproteinemia", "ORPHA:99651": "OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder", "ORPHA:99654": "OBSOLETE: Fibrocalculous pancreatopathy / OBSOLETE: FCPD / OBSOLETE: Fibrocalculous pancreatic diabetes / OBSOLETE: Tropical pancreatic diabetes", "ORPHA:99664": "OBSOLETE: Trochlear nerve palsy", "ORPHA:99663": "OBSOLETE: Vestibular torticollis", "ORPHA:99666": "OBSOLETE: Atlantoaxial subluxation", "ORPHA:99665": "NON RARE IN EUROPE: Ventral hernia", "ORPHA:99662": "OBSOLETE: Posterior fossa tumors", "ORPHA:99642": "Spondyloepimetaphyseal dysplasia, Handigodu type", "ORPHA:99408": "Pituitary adenoma", "ORPHA:99647": "Cheirospondyloenchondromatosis / Enchondromatosis Spranger, type VI / Generalized enchondromatosis with platyspondyly", "ORPHA:99648": "OBSOLETE: Non-progressive congenital heart block", "ORPHA:99649": "OBSOLETE: Generalized epilepsy and praxis-induced seizures", "ORPHA:99650": "OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy", "ORPHA:99645": "Dappled diaphyseal dysplasia", "ORPHA:99646": "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria / MC-HGA", "ORPHA:592574": "Menke-Hennekam syndrome", "ORPHA:592564": "GNAO1-related developmental delay-seizures-movement disorder spectrum / GNAO1-related neurodevelopmental disorder / GNAO1-related spectrum", "ORPHA:592570": "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome", "ORPHA:99694": "Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome", "ORPHA:99672": "Fried's tooth and nail syndrome", "ORPHA:99715": "MASS syndrome / Mitral valve-aorta-skeleton-skin syndrome", "ORPHA:99718": "Leber plus disease / LHON plus disease", "ORPHA:590539": "Isolated melanotic schwannoma / Isolated melanocytic schwannoma", "ORPHA:99722": "OBSOLETE: Sporadic achalasia", "ORPHA:99723": "OBSOLETE: Familial esophageal achalasia", "ORPHA:589821": "Congenital-onset Steinert myotonic dystrophy / Congenital-onset Steinert disease / Congenital-onset myotonic dystrophy type 1", "ORPHA:589746": "Inherited gynecological cancer-predisposing syndrome", "ORPHA:589827": "Juvenile-onset Steinert myotonic dystrophy / Juvenile-onset Steinert disease / Juvenile-onset myotonic dystrophy type 1", "ORPHA:99701": "Mesial temporal lobe epilepsy with hippocampal sclerosis / HS-MTLE / Hippocampal sclerosis-related mesial temporal lobe epilepsy / MTLE-HS", "ORPHA:589824": "Childhood-onset Steinert myotonic dystrophy / Childhood-onset Steinert disease / Childhood-onset myotonic dystrophy type 1", "ORPHA:589833": "Late-onset Steinert myotonic dystrophy / Late-onset Steinert disease / Late-onset myotonic dystrophy type 1", "ORPHA:589830": "Adult-onset Steinert myotonic dystrophy / Adult-onset Steinert disease / Adult-onset myotonic dystrophy type 1", "ORPHA:99704": "Early-onset obesity-hyperphagia-severe developmental delay syndrome / OBHD", "ORPHA:589905": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome / Chung-Jansen syndrome / DIDOD", "ORPHA:589856": "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome / KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "ORPHA:99706": "OBSOLETE: Progeria-associated arthropathy", "ORPHA:99710": "Punctate acrokeratoderma freckle-like pigmentation", "ORPHA:99749": "Kostmann syndrome / Infantile agranulocytosis / Severe congenital neutropenia type 3", "ORPHA:99757": "Embryonal rhabdomyosarcoma", "ORPHA:99756": "Alveolar rhabdomyosarcoma", "ORPHA:99731": "Isolated sulfite oxidase deficiency / ISOD / Sulfocysteinuria", "ORPHA:99732": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency / Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase / MOCOD", "ORPHA:99741": "King-Denborough syndrome / Koussef-Nichols syndrome", "ORPHA:99739": "Rare familial disorder with hypertrophic cardiomyopathy / Rare familial disorder with hypertrophic obstructive cardiomyopathy / Rare familial disorder with hypertrophic subaortic stenosis", "ORPHA:98820": "Familial focal epilepsy with variable foci / FFEVF / Familial partial epilepsy with variable foci", "ORPHA:98819": "Familial temporal lobe epilepsy", "ORPHA:98818": "Landau-Kleffner syndrome / Acquired epileptic aphasia / LKS", "ORPHA:98816": "Childhood occipital visual epilepsy / COVE / Idiopathic chilldhood occipital epilepsy-Gastaut type / Late-onset benign childhood occipital epilepsy", "ORPHA:98815": "Self-limited epilepsy with autonomic seizures / Benign childhood occipital epilepsy, Panayiotopoulos type / Early-onset benign childhood occipital epilepsy / Panayiotopoulos syndrome / SeLEAS", "ORPHA:98813": "Hypohidrotic ectodermal dysplasia with immunodeficiency / Anhidrotic ectodermal dysplasia with immunodeficiency / EDA-ID / HED-ID", "ORPHA:98812": "Paroxysmal hypnogenic dyskinesia / Nocturnal paroxysmal dystonia / Paroxysmal hypnagogic dyskinesia / Paroxysmal hypnagogic dystonia / Paroxysmal nocturnal dyskinesia", "ORPHA:98837": "Acute biphenotypic leukemia", "ORPHA:98838": "Primary mediastinal large B-cell lymphoma / Large cell lymphoma of the mediastinum / Med-DLBCL / Mediastinal diffuse large-cell lymphoma with sclerosis / Primary mediastinal clear cell lymphoma of B-cell type", "ORPHA:98835": "Acute undifferentiated leukemia / Acute myeloid leukemia, minimal differentiation, FAB M0", "ORPHA:98836": "Bilineal acute leukemia", "ORPHA:98833": "Acute myeloblastic leukemia without maturation / AML M1 / Acute myeloblastic leukemia M1", "ORPHA:98834": "Acute myeloblastic leukemia with maturation / AML M2 / Acute myeloblastic leukemia M2", "ORPHA:98831": "Acute myeloid leukemia with 11q23 abnormalities / AML with 11q23 abnormalities", "ORPHA:98832": "Acute myeloid leukemia with minimal differentiation / AML M0 / Minimally differentiated acute myeloblastic leukemia", "ORPHA:98829": "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) / AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)", "ORPHA:98825": "Unclassified myelodysplastic/myeloproliferative disease / Unclassified mixed myelodysplastic/myeloproliferatic syndrome", "ORPHA:98823": "Chronic myelomonocytic leukemia / CMML", "ORPHA:98824": "Atypical chronic myeloid leukemia / Subacute myeloid leukemia", "ORPHA:98852": "Desquamative interstitial pneumonia", "ORPHA:98851": "Mast cell leukemia", "ORPHA:98844": "Classic Hodgkin lymphoma, mixed cellularity type", "ORPHA:98843": "Classic Hodgkin lymphoma, nodular sclerosis type", "ORPHA:98846": "Classic Hodgkin lymphoma, lymphocyte-depleted type", "ORPHA:98845": "Classic Hodgkin lymphoma, lymphocyte-rich type", "ORPHA:98839": "Intravascular large B-cell lymphoma / Angioendotheliomatosis proliferans systemisata / Angiotropic large cell lymphoma / Intravascular lymphomatosis / Malignant angioendotheliomatosis / Tappeiner-Pfleger disease", "ORPHA:98842": "Lymphomatoid papulosis / LyP", "ORPHA:98841": "Anaplastic large cell lymphoma / ALCL / CD30 positive anaplastic large cell lymphoma / Ki-1 positive anaplastic large cell lymphoma / Primary systemic ALCL / sACL", "ORPHA:589608": "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies / RHOA-related mosaic ectodermal dysplasia", "ORPHA:98867": "Hereditary pyropoikilocytosis", "ORPHA:589595": "Mixed phenotype acute leukemia with t(v;11q23.3) / MPAL with t(v;11q23.3); KMT2A rearranged / MPAL with t(v;11q23.3); MLL rearranged", "ORPHA:98868": "Southeast Asian ovalocytosis / Hereditary ovalocytosis / Melanesian elliptocytosis / Melanesian ovalocytosis / SAO / Stomatocytic elliptocytosis", "ORPHA:98869": "Congenital dyserythropoietic anemia type I / CDA I / CDA type 1 / CDA type I / Congenital dyserythropoietic anemia type 1", "ORPHA:589618": "Dystonia 28 / DYT28 / KMT2B-related dystonia", "ORPHA:589534": "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) / MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1", "ORPHA:589527": "Spinocerebellar ataxia type 45 / SCA45", "ORPHA:98864": "Common hereditary elliptocytosis", "ORPHA:589547": "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder / GRIN2B-Related Neurodevelopmental Disorder", "ORPHA:98865": "Homozygous hereditary elliptocytosis", "ORPHA:589542": "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement / Myeloid/lymphoid neoplasms with PCM1-JAK2", "ORPHA:98866": "OBSOLETE: Spherocytic elliptocytosis", "ORPHA:589442": "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome / Liberfarb syndrome", "ORPHA:589435": "Spondylometaphyseal dysplasia-corneal dystrophy syndrome / SMD-corneal dystrophy syndrome", "ORPHA:589522": "Spinocerebellar ataxia type 46 / SCA46", "ORPHA:98861": "Primary ciliary dyskinesia, Kartagener type / Dextrocardia-bronchiectasis-sinusitis syndrome / Immotile cilia syndrome, Kartagener type / Kartagener syndrome / Siewert syndrome", "ORPHA:589515": "PUM1-associated developmental disability-ataxia-seizure syndrome / PADDAS syndrome", "ORPHA:98886": "Bleeding diathesis due to integrin alpha2-beta1 deficiency", "ORPHA:98885": "Bleeding diathesis due to glycoprotein VI deficiency", "ORPHA:98873": "Congenital dyserythropoietic anemia type II / CDA II / CDA type 2 / CDA type II / Congenital dyserythropoietic anemia type 2 / Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) / SEC23B-CDG", "ORPHA:98872": "Primary acquired pure red cell aplasia / Primary acquired PRCA", "ORPHA:98871": "Transient erythroblastopenia of childhood / Transient acquired pure red cell aplasia", "ORPHA:98889": "Bilateral perisylvian polymicrogyria", "ORPHA:98888": "X-linked complex spastic paraplegia / Complex X-linked HSP / Complex X-linked SPG / Complicated X-linked HSP / Complicated X-linked SPG / X-linked complicated spastic paraplegia", "ORPHA:98893": "Congenital muscular dystrophy type 1B / CMD1B / MDC1B", "ORPHA:98894": "Congenital muscular dystrophy type 1D / MDC1D", "ORPHA:98918": "Acute motor axonal neuropathy / AMAN / Acute pure motor GBS / Acute pure motor Guillain-Barré syndrome", "ORPHA:98917": "Acute motor and sensory axonal neuropathy / AMSAN / Acute motor-sensory axonal GBS / Acute motor-sensory axonal Guillain-Barré syndrome", "ORPHA:98904": "Congenital myopathy with excess of thin filaments / Actin myopathy", "ORPHA:98910": "Alpha-crystallinopathy / CRYAB-related myofobrillar myopathy", "ORPHA:98932": "OBSOLETE: Shy-Drager syndrome / OBSOLETE: MSA-urinary dysfunction syndrome / OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome", "ORPHA:98919": "Miller Fisher syndrome / Cranial variant of GBS / Cranial variant of Guillain-Barré syndrome", "ORPHA:98920": "Spinal muscular atrophy with respiratory distress type 1 / Autosomal recessive distal spinal muscular atrophy type 1 / Autosomal recessive spinal muscular atrophy with respiratory distress / Diaphragmatic spinal muscular atrophy / Distal hereditary motor neuropathy type 6 / Distal-HMN type 6 / SIANRF / SMARD1 / Severe infantile axonal neuropathy with respiratory failure type 1 / dHMN6 / dSMA1", "ORPHA:98922": "Blake pouch cyst", "ORPHA:98941": "OBSOLETE: Von Hippel anomaly", "ORPHA:98942": "Coloboma of choroid and retina", "ORPHA:98949": "Complete cryptophthalmia", "ORPHA:98950": "Partial cryptophthalmia", "ORPHA:98947": "Coloboma of optic disc / Coloboma of optic papilla", "ORPHA:98948": "Congenital symblepharon", "ORPHA:98945": "Coloboma of macula", "ORPHA:98946": "Coloboma of eyelid", "ORPHA:98943": "Coloboma of eye lens", "ORPHA:98944": "Coloboma of iris", "ORPHA:98958": "Climatic droplet keratopathy / Honey-droplet corneal dystrophy", "ORPHA:98957": "Gelatinous drop-like corneal dystrophy / GDCD / Primary familial amyloidosis of the cornea / Subepithelial amyloidosis of the cornea", "ORPHA:98956": "Epithelial basement membrane dystrophy / Anterior basement membrane dystrophy / Cogan microcystic epithelial dystrophy / EBMD / Map-dot-fingerprint dystrophy", "ORPHA:98955": "Lisch epithelial corneal dystrophy / Band-shaped and whorled microcystic dystrophy of the corneal epithelium / LECD", "ORPHA:98954": "Meesmann corneal dystrophy / Juvenile hereditary epithelial dystrophy of Meesmann / MECD", "ORPHA:98951": "Inverse Marcus-Gunn phenomenon", "ORPHA:98961": "Reis-Bücklers corneal dystrophy / Anterior limiting membrane dystrophy type 1 / Anterior limiting membrane dystrophy type I / Atypical granular corneal dystrophy / Corneal dystrophy of Bowman layer type 1 / Corneal dystrophy of Bowman layer type I / Geographic corneal dystrophy / Granular corneal dystrophy type 3 / Granular corneal dystrophy type III / RBCD / Superficial granular corneal dystrophy", "ORPHA:98959": "Subepithelial mucinous corneal dystrophy / SMCD", "ORPHA:98971": "Posterior amorphous corneal dystrophy / PACD / Posterior amorphous stromal dystrophy", "ORPHA:98972": "Central cloudy dystrophy of François / CCDF / Central cloudy corneal dystrophy of François", "ORPHA:98974": "Fuchs endothelial corneal dystrophy / Endoepithelial corneal dystrophy / FECD / Late hereditary endothelial dystrophy", "ORPHA:98967": "Schnyder corneal dystrophy / Crystalline stromal dystrophy / Hereditary crystalline stromal dystrophy of Schnyder / SCCD / SCD / Schnyder crystalline corneal dystrophy / Schnyder crystalline dystrophy sine crystals", "ORPHA:98968": "Central discoid corneal dystrophy", "ORPHA:98970": "Fleck corneal dystrophy / FCD / François-Neetens speckled corneal dystrophy", "ORPHA:98979": "Chandler syndrome", "ORPHA:98980": "Cogan-Reese syndrome", "ORPHA:98981": "Essential iris atrophy", "ORPHA:98975": "Congenital hereditary endothelial dystrophy type I / Autosomal dominant CHED / Autosomal dominant congenital hereditary endothelial dystrophy / CHED1 / CHEDI / Congenital hereditary endothelial dystrophy type 1", "ORPHA:98978": "Axenfeld anomaly", "ORPHA:98988": "Early-onset anterior polar cataract / Early-onset anterior subcapsular cataract", "ORPHA:98987": "OBSOLETE: Cataract, Hutterite type", "ORPHA:98990": "Coralliform cataract", "ORPHA:98989": "Cerulean cataract / Blue-dot cataract", "ORPHA:98984": "Pulverulent cataract / Coppock-like cataract / Dusty cataract", "ORPHA:98983": "OBSOLETE: Congenital cataract, Volkmann type", "ORPHA:98986": "OBSOLETE: Coppock-like cataract", "ORPHA:98985": "Early-onset sutural cataract / Early-onset cataract with Y-shaped suture opacities", "ORPHA:98995": "Early-onset zonular cataract", "ORPHA:98992": "Early-onset partial cataract", "ORPHA:98991": "Early-onset nuclear cataract", "ORPHA:98994": "Total early-onset cataract", "ORPHA:98993": "Early-onset posterior polar cataract", "ORPHA:99001": "Butterfly-shaped pigment dystrophy / Butterfly-shaped pattern dystrophy / Butterfly-shaped pigmentary macular dystrophy", "ORPHA:99002": "Reticular dystrophy of the retinal pigment epithelium", "ORPHA:99003": "Multifocal pattern dystrophy simulating fundus flavimaculatus / Multifocal pattern dystrophy simulating Stargardt disease", "ORPHA:99004": "Fundus pulverulentus", "ORPHA:99012": "OBSOLETE: Autosomal recessive optic atrophy, OPA6 type", "ORPHA:99022": "OBSOLETE: Niemann-Pick disease type E", "ORPHA:585867": "Acute myeloid leukemia with t(9;22)(q34.1;q11.2) / AML with BCR-ABL1 / AML with t(9;22)(q34.1;q11.2)", "ORPHA:585877": "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality", "ORPHA:585909": "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) / B-ALL with t(9;22)(q34.1;q11.2) / BCR-ABL1-like B-ALL / Philadelphia chromosome-like B-ALL", "ORPHA:585936": "B-lymphoblastic leukemia/lymphoma with hyperdiploidy", "ORPHA:585942": "B-lymphoblastic leukemia/lymphoma with hypodiploidy / Hypodiploid ALL", "ORPHA:585918": "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) / B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged / B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged", "ORPHA:585929": "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) / B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 / B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1", "ORPHA:585956": "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) / B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1", "ORPHA:585948": "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) / B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH", "ORPHA:586130": "Sporadic fatal insomnia", "ORPHA:99042": "Congenitally uncorrected transposition of the great arteries with coarctation / Congenitally uncorrected transposition of the great vessels with coarctation / TGA with coarctation", "ORPHA:99043": "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis / DORV with subaortic or doubly committed VSD with pulmonary stenosis / DORV, Fallot type / Double outlet right ventricle, Fallot type", "ORPHA:99044": "Double outlet right ventricle with subaortic ventricular septal defect", "ORPHA:99045": "Double outlet right ventricle with subpulmonary ventricular septal defect / DORV with subpulmonary VSD / DORV-TGA / Double outlet right ventricle with transposition of the great arteries / Taussig-Bing syndrome", "ORPHA:99046": "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect / DORV with non-committed subpulmonary VSD", "ORPHA:99048": "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome / APV/PDA, non-Fallot type", "ORPHA:99047": "Double outlet right ventricle with doubly committed ventricular septal defect", "ORPHA:99050": "Abnormal origin of right or left pulmonary artery from the aorta / Hemitruncus arteriosus / Pulmonary artery coming from the aorta", "ORPHA:99049": "Pulmonary artery coming from patent ductus arteriosus", "ORPHA:99052": "Discrete fibromuscular subaortic stenosis", "ORPHA:99051": "Discrete fixed membranous subaortic stenosis", "ORPHA:99054": "Valvular pulmonary stenosis", "ORPHA:99053": "Tunnel subaortic stenosis", "ORPHA:99056": "Parachute tricuspid valve", "ORPHA:99055": "Congenital anomaly of the tricuspid valve chordae / Congenital anomaly of tricuspid chordae tendineae / Congenital anomaly of tricuspid tendinous chords", "ORPHA:99058": "Hypoplasia of the mitral valve annulus", "ORPHA:99057": "Congenital mitral stenosis", "ORPHA:99060": "Congenital unguarded mitral orifice", "ORPHA:99059": "Congenital supravalvular mitral ring", "ORPHA:99062": "Mitral valve agenesis", "ORPHA:99061": "Accessory mitral valve tissue", "ORPHA:98609": "EEC syndrome and related disorders / EEC syndrome and related syndrome / Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders", "ORPHA:98610": "Rare disorder with conjunctival involvement as a major feature", "ORPHA:98608": "OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system", "ORPHA:98613": "OBSOLETE: Conjunctival telangiectasia", "ORPHA:98614": "OBSOLETE: Conjunctival lymphangiectasia", "ORPHA:98611": "OBSOLETE: Conjunctival vascular anomaly", "ORPHA:98612": "OBSOLETE: Conjunctival hemangioma or hemolymphangioma", "ORPHA:98601": "OBSOLETE: Eyebrow/eyelashes pigmentation anomaly", "ORPHA:98602": "Rare disorder of the lacrimal apparatus / Rare lacrimal system disease", "ORPHA:98599": "OBSOLETE: Eyebrow/eyelashes structural anomaly", "ORPHA:98600": "OBSOLETE: Eyebrow/eyelashes distichiasis", "ORPHA:98605": "Lacrimal drainage system anomaly / Excretory apparatus of the lacrimal system anomaly", "ORPHA:98606": "Syndromic orbital border hypoplasia / Urrets-Zavalia syndrome", "ORPHA:98603": "OBSOLETE: Secretory apparatus of the lacrimal system anomaly", "ORPHA:98604": "Congenital alacrima", "ORPHA:98594": "Rare eyebrow/eyelash disorder / Rare eyebrow/eyelashes anomaly", "ORPHA:98593": "OBSOLETE: Neurogenic palpebral tumor", "ORPHA:98592": "OBSOLETE: Palpebral tumor with a vascular malformation", "ORPHA:98591": "OBSOLETE: Mesenchymatous palpebral tumor", "ORPHA:98598": "OBSOLETE: Congenital absence of the eyebrow/eyelashes", "ORPHA:98597": "OBSOLETE: Eyelashes hypertrophy / OBSOLETE: Eyelashes polytrichia / OBSOLETE: Eyelashes trichomegalia", "ORPHA:98596": "OBSOLETE: Eyebrow hypertrophy", "ORPHA:98595": "OBSOLETE: Eyebrow/eyelashes hypertrichosis", "ORPHA:98586": "OBSOLETE: Pigmented palpebral tumor", "ORPHA:98585": "OBSOLETE: Palpebral sebaceous gland tumor", "ORPHA:98584": "OBSOLETE: Malignant tumor of palpebral epidermis", "ORPHA:98583": "OBSOLETE: Precancerous lesion of palpebral epidermis", "ORPHA:98590": "OBSOLETE: Palpebral piliary tumor", "ORPHA:98589": "OBSOLETE: Palpebral malignant melanoma", "ORPHA:98588": "OBSOLETE: Palpebral nevus", "ORPHA:98587": "OBSOLETE: Palpebral lentiginosis", "ORPHA:98575": "Syndromic telecanthus", "ORPHA:98576": "Syndromic outer canthal malposition / Malposition of external canthus", "ORPHA:98577": "OBSOLETE: Kinetic eyelid anomaly", "ORPHA:98578": "Rare disorder with ptosis", "ORPHA:98579": "OBSOLETE: Congenital upper palpebral retraction", "ORPHA:98580": "OBSOLETE: Palpebral tumor", "ORPHA:98581": "OBSOLETE: Palpebral epidermal tumor", "ORPHA:98582": "OBSOLETE: Benign tumor of palpebral epidermis", "ORPHA:98567": "Rare eyelid malposition disorder / Eyelids malposition disorder", "ORPHA:98568": "OBSOLETE: Congenital entropion", "ORPHA:98569": "OBSOLETE: Secondary entropion", "ORPHA:98570": "Congenital ectropion", "ORPHA:98571": "Secondary ectropion", "ORPHA:98572": "OBSOLETE: Canthal anomaly", "ORPHA:98573": "OBSOLETE: Epicanthal fold", "ORPHA:98574": "Syndromic epicanthus", "ORPHA:98560": "Rare palpebral disorder", "ORPHA:98559": "OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease", "ORPHA:98562": "Cryptophthalmia", "ORPHA:98561": "Congenital malformation of the eyelid", "ORPHA:98564": "Eyelid border anomaly", "ORPHA:98563": "Microblepharon-ablephara syndrome", "ORPHA:98566": "Syndromic eyelid coloboma / Syndromic palpebral coloboma", "ORPHA:98565": "Syndromic ankyloblepharon filiforme adnatum", "ORPHA:98554": "OBSOLETE: Major induction processes eye anomaly", "ORPHA:98553": "Developmental defect of the eye", "ORPHA:98555": "Microphthalmia-anophthalmia-coloboma / Anophthalmia-microphthalmia syndrome", "ORPHA:98558": "OBSOLETE: Rare eye disease due to a differentiation anomaly", "ORPHA:98557": "Syndromic aniridia", "ORPHA:98677": "OBSOLETE: Autosomal recessive syndromic optic atrophy", "ORPHA:98678": "OBSOLETE: X-linked recessive optic atrophy", "ORPHA:98675": "OBSOLETE: Autosomal recessive optic atrophy", "ORPHA:98676": "Autosomal recessive isolated optic atrophy / Autosomal recessive non-syndromic optic atrophy", "ORPHA:98671": "Hereditary optic neuropathy", "ORPHA:98672": "Autosomal dominant optic atrophy / ADOA", "ORPHA:98669": "OBSOLETE: Congenital vitreoretinal dysplasia", "ORPHA:98670": "OBSOLETE: Vitreoretinal degeneration", "ORPHA:98667": "OBSOLETE: Disease predisposing to age-related macular degeneration", "ORPHA:98668": "Vitreoretinopathy", "ORPHA:98665": "OBSOLETE: Colobomatous and areolar dystrophy", "ORPHA:98666": "OBSOLETE: Unclassified primitive or secondary maculopathy", "ORPHA:98664": "OBSOLETE: Genetic macular dystrophy", "ORPHA:98662": "OBSOLETE: Unclassified familial retinal dystrophy", "ORPHA:98661": "Syndromic rod-cone dystrophy / Syndromic retinitis pigmentosa", "ORPHA:98658": "Color-vision disease", "ORPHA:98657": "OBSOLETE: Genetic vitreous-retinal disease", "ORPHA:98655": "Lens shape anomaly", "ORPHA:98653": "Lens position anomaly", "ORPHA:98652": "Lens size anomaly", "ORPHA:98650": "Craniofacial anomaly with cataract", "ORPHA:98649": "Dentocutaneous disease with cataract", "ORPHA:98648": "Musculoskeletal disease with cataract", "ORPHA:98647": "OBSOLETE: Cardiac disease with cataract", "ORPHA:98643": "OBSOLETE: Systemic disease with cataract", "ORPHA:98644": "Metabolic disease with cataract", "ORPHA:98645": "OBSOLETE: Cerebral disease with cataract", "ORPHA:98646": "Renal disease with cataract", "ORPHA:98639": "Rare lens disease", "ORPHA:98640": "Rare disorder with lens opacification / Rare cataract", "ORPHA:98641": "Syndromic cataract", "ORPHA:98642": "Chromosomal anomaly with cataract", "ORPHA:98635": "Corneodysgenesis / Corneogoniodysgenesis", "ORPHA:98636": "OBSOLETE: Corneoiridogoniodysgenesis", "ORPHA:98637": "OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly", "ORPHA:98638": "Rare disease with glaucoma as a major feature", "ORPHA:98631": "Congenital malformation of the eye with glaucoma as a major feature", "ORPHA:98632": "OBSOLETE: Glaucoma associated with neural crest cell migration anomaly", "ORPHA:98633": "OBSOLETE: Goniodysgenesis", "ORPHA:98634": "Anterior segment developmental anomaly without extraocular manifestations", "ORPHA:98628": "Syndromic corneal dystrophy", "ORPHA:98627": "Posterior corneal dystrophy", "ORPHA:98629": "OBSOLETE: Rare glaucoma", "ORPHA:98623": "Syndromic keratoconus", "ORPHA:98626": "Stromal corneal dystrophy", "ORPHA:98625": "Superficial corneal dystrophy / Anterior corneal dystrophy", "ORPHA:98620": "OBSOLETE: Syndromic myopia", "ORPHA:98619": "Rare isolated myopia", "ORPHA:98622": "Syndromic hyperopia", "ORPHA:98621": "Rare hyperopia and astigmatism", "ORPHA:98616": "OBSOLETE: Conjunctival tumor", "ORPHA:98615": "OBSOLETE: Pigmented conjunctival lesion", "ORPHA:98618": "Rare refraction anomaly", "ORPHA:98617": "OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma", "ORPHA:583602": "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency / Phosphoserine aminotransferase deficiency, prenatal form", "ORPHA:98730": "OBSOLETE: Atrioventricular discordance", "ORPHA:583607": "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency / 3-phosphoglycerate dehydrogenase deficiency, prenatal form", "ORPHA:98729": "Congenital pulmonary veins anomaly", "ORPHA:583595": "Serine biosynthesis pathway deficiency, infantile/juvenile form", "ORPHA:98727": "Rare atrial defect and interatrial communication / Atrial defect and interauricular communication", "ORPHA:98734": "OBSOLETE: Cardioskeletal syndrome", "ORPHA:98733": "Noonan syndrome and Noonan-related syndrome", "ORPHA:583612": "Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency / 3-phosphoserine phosphatase deficiency, prenatal form", "ORPHA:98732": "OBSOLETE: Syndrome associated with a congenital cardiopathy", "ORPHA:98731": "Congenital arteriovenous fistula", "ORPHA:583856": "Isolated splenic vein thrombosis", "ORPHA:98738": "Neurological muscular channelopathy due to a genetic sodium channel defect", "ORPHA:583861": "Isolated mesenteric vein thrombosis", "ORPHA:98737": "Genetic neurological muscular channelopathy", "ORPHA:98736": "OBSOLETE: Genetic neurological channelopathy", "ORPHA:98742": "Neurological muscular channelopathy due to a genetic ryanodine receptor defect", "ORPHA:98741": "Neurological muscular channelopathy due to a genetic potassium channel defect", "ORPHA:98740": "Neurological muscular channelopathy due to a genetic calcium channel defect", "ORPHA:98739": "Neurological muscular channelopathy due to a genetic chloride channel defect", "ORPHA:98713": "OBSOLETE: Metabolic disease with pigmentary retinitis", "ORPHA:98714": "OBSOLETE: Metabolic disease with macular cherry-red spot", "ORPHA:98711": "OBSOLETE: Metabolic disease with corneal opacity", "ORPHA:98712": "OBSOLETE: Metabolic disease with cataract", "ORPHA:98717": "Transposition of the great arteries and conotruncal cardiac anomaly", "ORPHA:98718": "Aortic malformation", "ORPHA:98715": "Uveitis", "ORPHA:98716": "Heart position anomaly", "ORPHA:98721": "Congenital tricuspid malformation", "ORPHA:98722": "Atrioventricular septal defect / AVSD / Atrioventricular canal defect", "ORPHA:98719": "Pulmonary artery or pulmonary branch anomaly", "ORPHA:98720": "Atrioventricular valve anomaly", "ORPHA:98725": "Ascending aorta anomaly", "ORPHA:98726": "OBSOLETE: Pulmonary artery/pulmonary branch anomaly", "ORPHA:98723": "Hypoplastic right heart syndrome", "ORPHA:98724": "Congenital anomaly of the great arteries / Congenital aorta, aortic arch or pulmonary arteries anomaly", "ORPHA:98696": "OBSOLETE: Genodermatosis with ocular features", "ORPHA:98695": "OBSOLETE: Mitochondrial disease with eye involvement", "ORPHA:98698": "OBSOLETE: Ichthyosis associated with ocular features", "ORPHA:98697": "OBSOLETE: Genetic keratinization disorder associated with ocular features", "ORPHA:98700": "OBSOLETE: Pigmentation disorder with eye involvement", "ORPHA:98699": "OBSOLETE: Syndromic ichthyosis associated with ocular features", "ORPHA:98702": "OBSOLETE: Connective tissue disease with eye involvement", "ORPHA:98701": "OBSOLETE: Phakomatosis with eye involvement", "ORPHA:98704": "OBSOLETE: Onycho-patellar syndrome with eye involvement", "ORPHA:98703": "OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features", "ORPHA:98706": "Oculocutaneous or ocular albinism", "ORPHA:98708": "OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism", "ORPHA:98710": "OBSOLETE: Metabolic disease associated with ocular features", "ORPHA:98709": "OBSOLETE: Ectodermal malformation syndrome associated with ocular features", "ORPHA:98681": "Rare disorder with strabismus", "ORPHA:98682": "NON RARE IN EUROPE: Essential strabismus", "ORPHA:98683": "Syndromic disorder with strabismus / Syndrome with a symptomatic strabismus", "ORPHA:98684": "Craniostenosis with strabismus", "ORPHA:98685": "Rare oculomotor nerve disorder", "ORPHA:98686": "Congenital trochlear nerve palsy / Congenital CNIV palsy / Congenital fourth cranial nerve palsy / Congenital superior oblique palsy", "ORPHA:98687": "Supranuclear eye movement disorder", "ORPHA:98688": "Oculomotor apraxia", "ORPHA:98689": "OBSOLETE: Myopathy with eye involvement", "ORPHA:98690": "OBSOLETE: Myasthenic syndrome with eye involvement", "ORPHA:98691": "OBSOLETE: Abnormal eye movements", "ORPHA:583097": "Congenital infiltrating lipomatosis of the face / CIL-F / Facial infused lipomatosis / Fibroadipose infiltrating lipomatosis", "ORPHA:98692": "OBSOLETE: Nervous system anomaly with eye involvement", "ORPHA:98693": "OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly", "ORPHA:98694": "OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly", "ORPHA:98795": "Angelman syndrome due to paternal uniparental disomy of chromosome 15 / UPD(15)pat", "ORPHA:98794": "Angelman syndrome due to maternal 15q11q13 deletion / Angelman syndrome due to maternal monosomy 15q11q13", "ORPHA:98793": "Prader-Willi syndrome due to paternal 15q11q13 deletion", "ORPHA:98788": "Pitt-Rogers-Danks syndrome / Intellectual disability-dysmorphism-intrauterine growth retardation syndrome", "ORPHA:98784": "Autosomal dominant nocturnal frontal lobe epilepsy / ADNFLE / Autosomal dominant sleep-related hypermotor epilepsy", "ORPHA:98770": "Spinocerebellar ataxia type 16 / SCA16", "ORPHA:98747": "Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect", "ORPHA:580940": "QRICH1-related intellectual disability-chondrodysplasia syndrome", "ORPHA:98748": "Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect", "ORPHA:98749": "Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect", "ORPHA:580951": "Punctate inner choroidopathy", "ORPHA:98750": "Autoimmune neurological channelopathy", "ORPHA:98743": "Genetic neurological channelopathy of the central nervous system", "ORPHA:98744": "Neurological channelopathy of the central nervous system due to a genetic sodium channel defect", "ORPHA:580933": "Lethal brain and heart developmental defects", "ORPHA:98745": "Neurological channelopathy of the central nervous system due to a genetic calcium channel defect", "ORPHA:98746": "Neurological channelopathy of the central nervous system due to a genetic potassium channel defect", "ORPHA:98751": "OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect", "ORPHA:581271": "Cramp-fasciculation syndrome", "ORPHA:98752": "OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect", "ORPHA:98753": "OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect", "ORPHA:98754": "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 / UPD(15)mat", "ORPHA:98336": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection", "ORPHA:98335": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect", "ORPHA:98338": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug", "ORPHA:98337": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation", "ORPHA:98340": "OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity", "ORPHA:98339": "OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin", "ORPHA:98342": "OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury", "ORPHA:98341": "OBSOLETE: Male infertility with normal virilization due to a systemic disease", "ORPHA:98328": "OBSOLETE: Male infertility with normal virilization", "ORPHA:98327": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease", "ORPHA:98330": "OBSOLETE: Male infertility with normal virilization due to androgen administration", "ORPHA:98329": "OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect", "ORPHA:98332": "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect", "ORPHA:98331": "OBSOLETE: Male infertility with normal virilization due to a testicular defect", "ORPHA:98334": "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele", "ORPHA:98333": "OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism", "ORPHA:98352": "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature / Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature", "ORPHA:98353": "Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature / Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature", "ORPHA:98356": "Autosomal recessive isolated diffuse palmoplantar keratoderma / Autosomal recessive isolated diffuse palmoplantar hyperkeratosis", "ORPHA:98357": "Autosomal recessive disease with focal palmoplantar keratoderma as a major feature / Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature", "ORPHA:98343": "Male infertility due to obstructive azoospermia / Male infertility due to impaired sperm transport", "ORPHA:98345": "OBSOLETE: Rare idiopathic male infertility", "ORPHA:580572": "Intraductal tubulopapillary neoplasm of pancreas / ITPN", "ORPHA:98349": "Autosomal dominant isolated diffuse palmoplantar keratoderma / Autosomal dominant isolated diffuse palmoplantar hyperkeratosis", "ORPHA:98306": "Familial partial lipodystrophy / FPLD", "ORPHA:98305": "Genetic lipodystrophy", "ORPHA:98310": "OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder", "ORPHA:98309": "OBSOLETE: Male infertility with impaired virilization", "ORPHA:98307": "Acquired lipodystrophy", "ORPHA:98298": "OBSOLETE: Ichthyosis associated with a peroxisomal disease", "ORPHA:98297": "OBSOLETE: Ichthyosis associated with a protein catabolism anomaly", "ORPHA:98296": "OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly", "ORPHA:98301": "Laminopathy", "ORPHA:98300": "Idiopathic interstitial pneumonia", "ORPHA:98299": "OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly", "ORPHA:98321": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease", "ORPHA:98322": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure", "ORPHA:98319": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity", "ORPHA:98320": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease", "ORPHA:98325": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis", "ORPHA:98326": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder", "ORPHA:98323": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease", "ORPHA:98324": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness", "ORPHA:98313": "Male infertility due to gonadal dysgenesis / Male infertility due to testicular dysgenesis", "ORPHA:98314": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect", "ORPHA:98311": "OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia", "ORPHA:98312": "OBSOLETE: Male infertility with impaired virilization due to a testicular disorder", "ORPHA:98317": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related", "ORPHA:98318": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin", "ORPHA:98315": "OBSOLETE: Male infertility with impaired virilization due to a viral orchitis", "ORPHA:98316": "OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma", "ORPHA:576232": "Partial atrioventricular septal defect with ventricular hypoplasia / PAVC with ventricular hypoplasia / Partial AVSD with ventricular hypoplasia / Partial atrioventricular canal defect with ventricular hypoplasia / Partial atrioventricular septal defect with ventricular imbalance / Unbalanced partial atrioventricular canal", "ORPHA:576235": "Partial atrioventricular septal defect without ventricular hypoplasia / Balanced partial atrioventricular canal / PAVC without ventricular hypoplasia / Partial AVSD without ventricular hypoplasia / Partial atrioventricular canal defect without ventricular hypoplasia / Partial atrioventricular septal defect with balanced ventricles", "ORPHA:576227": "Complete atrioventricular septal defect without ventricular hypoplasia / Balanced complete atrioventricular canal / CAVC without ventricular hypoplasia / Complete AVSD without ventricular hypoplasia / Complete atrioventricular canal defect without ventricular hypoplasia / Complete atrioventricular septal defect with balanced ventricles", "ORPHA:98396": "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder", "ORPHA:576074": "Middle East respiratory syndrome / MERS", "ORPHA:575553": "Cathepsin A-related arteriopathy-strokes-leukoencephalopathy / CARASAL", "ORPHA:98421": "Primary acquired red cell aplasia / Primary autoimmune red cell aplasia", "ORPHA:576742": "Genetic hemolytic uremic syndrome / Genetic HUS", "ORPHA:98415": "Vitamin B12- and folate-independent constitutional megaloblastic anemia", "ORPHA:576379": "Iatrogenic Creutzfeldt-Jakob disease / Iatrogenic MCJ / iCJD", "ORPHA:576356": "Sporadic human prion disease / Idiopathic human prion disease", "ORPHA:576349": "NLRC4-related familial cold autoinflammatory syndrome / FCAS4 / Familial cold autoinflammatory syndrome 4 / NLRC4-related familial cold urticaria", "ORPHA:576370": "Variant Creutzfeldt-Jakob disease / Variant MCJ / vCJD", "ORPHA:576360": "Acquired human prion disease / Infectious human prion disease", "ORPHA:576242": "Intermediate atrioventricular septal defect / Intermediate AVSD / Intermediate atrioventricular canal defect / Transitional atrioventricular canal defect", "ORPHA:98408": "Constitutional megaloblastic anemia due to folate metabolism disorder", "ORPHA:576283": "SATB2-associated syndrome due to a pathogenic variant / SATB2-associated syndrome due to a point mutation", "ORPHA:576278": "SATB2-associated syndrome / SAS", "ORPHA:573163": "Pheochromocytoma-paraganglioma", "ORPHA:98374": "Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder / Hemolytic anemia due to an erythroenzymopathy", "ORPHA:573253": "Split cord malformation type II / Diplomyelia / SCM type 2 / SCM type II / Split cord malformation type 2", "ORPHA:98372": "Hemolytic anemia due to a disorder of glycolytic enzymes", "ORPHA:98370": "Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies", "ORPHA:98369": "Rare constitutional hemolytic anemia due to an enzyme disorder", "ORPHA:98366": "Constitutional hemolytic anemia due to acanthocytosis / Constitutional hemolytic anemia due to acanthocytic disorder", "ORPHA:98365": "Hereditary stomatocytosis / Hereditary stomatocytic disease", "ORPHA:98364": "Rare constitutional hemolytic anemia due to a red cell membrane anomaly", "ORPHA:98363": "Rare hemolytic anemia", "ORPHA:98362": "Constitutional sideroblastic anemia", "ORPHA:98360": "Constitutional anemia due to iron metabolism disorder", "ORPHA:574957": "Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency / MSMD due to partial JAK1 deficiency / Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency", "ORPHA:574918": "Predisposition to severe viral infection due to IRF7 deficiency", "ORPHA:573278": "Split cord malformation / SCM", "ORPHA:98455": "Alpha granule disease", "ORPHA:98456": "Dense granule disease / Delta granule disease", "ORPHA:98464": "OBSOLETE: X-linked syndromic intellectual disability", "ORPHA:98468": "OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly", "ORPHA:98469": "OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly", "ORPHA:98470": "OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly", "ORPHA:98472": "Skeletal muscle disease", "ORPHA:98473": "Muscular dystrophy", "ORPHA:98482": "Idiopathic inflammatory myopathy / IMM / Idiopathic inflammatory myositis", "ORPHA:98486": "Metabolic myopathy", "ORPHA:572385": "Brachydactyly type B1", "ORPHA:572361": "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 / BPES type 2 / Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure", "ORPHA:98429": "Rare coagulation disorder", "ORPHA:98427": "Polycythemia", "ORPHA:98428": "Secondary polycythemia / Secondary erythrocytosis", "ORPHA:572428": "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia / OAS1 deficiency / OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia", "ORPHA:98434": "Hereditary combined deficiency of vitamin K-dependent clotting factors / Hereditary combined deficiency of factors II, VII, IX and X", "ORPHA:98435": "OBSOLETE: Protease inhibitor anomaly", "ORPHA:572543": "RFVT2-related riboflavin transporter deficiency / RTD2 / Riboflavin transporter deficiency 2", "ORPHA:572550": "RFVT3-related riboflavin transporter deficiency / RTD3 / Riboflavin transporter deficiency 3", "ORPHA:572773": "Microcephaly-short stature-limb abnormalities syndrome / MISSLA", "ORPHA:98454": "OBSOLETE: Platelet storage pool disease / OBSOLETE: SPD", "ORPHA:572798": "WARS2-related combined oxidative phosphorylation defect / Mitochondrial tryptophanyl-tRNA synthetase deficiency", "ORPHA:572761": "DONSON-related microcephaly-short stature-limb abnormalities spectrum", "ORPHA:572768": "Microcephaly-micromelia syndrome / MIMIS", "ORPHA:98519": "Posterior fossa malformation", "ORPHA:98520": "OBSOLETE: Cystic malformation of the posterior fossa", "ORPHA:98531": "OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa", "ORPHA:98532": "OBSOLETE: Tauopathy with a major tau at 60 kDa", "ORPHA:98534": "Neurodegenerative disease with dementia", "ORPHA:98527": "OBSOLETE: Tauopathy", "ORPHA:98528": "OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration", "ORPHA:98529": "OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa", "ORPHA:98530": "OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa", "ORPHA:98540": "Late-onset ataxia with dementia", "ORPHA:98539": "Early-onset ataxia with dementia", "ORPHA:572013": "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome", "ORPHA:98542": "Infectious disease with dementia", "ORPHA:98535": "Frontotemporal degeneration with dementia", "ORPHA:98538": "Ataxia with dementia", "ORPHA:572333": "Blepharophimosis-ptosis-epicanthus inversus syndrome plus / 3q23 microdeletion syndrome / BPES plus", "ORPHA:572354": "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 / BPES type 1 / Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure", "ORPHA:98549": "Rare cerebrovascular dementia", "ORPHA:98544": "Cerebral lipidosis with dementia", "ORPHA:98543": "Metabolic disease with dementia", "ORPHA:570762": "Infective endocarditis / Bacterial endocarditis / Infectious endocarditis", "ORPHA:98494": "Acquired neuromuscular junction disease", "ORPHA:570491": "QRSL1-related combined oxidative phosphorylation defect / QRSL1-related COXPD", "ORPHA:98491": "Neuromuscular junction disease", "ORPHA:570470": "Ricin poisoning", "ORPHA:570438": "HHV-8-associated multicentric Castleman disease / Human herpesvirus-8-associated multicentric Castleman disease", "ORPHA:570431": "Idiopathic multicentric Castleman disease / HHV-8-negative multicentric Castleman disease / Human herpesvirus-8-negative multicentric Castleman disease", "ORPHA:570422": "Galactose mutarotase deficiency / GALM deficiency / Galactosemia type 4", "ORPHA:570371": "Bartter syndrome type 5 / Bartter syndrome type V / Transient antenatal Bartter syndrome", "ORPHA:98497": "Genetic peripheral neuropathy", "ORPHA:98495": "Genetic neuromuscular junction disease", "ORPHA:98496": "Rare peripheral neuropathy", "ORPHA:98506": "Acquired motor neuron disease / Acquired anterior horn cell disease", "ORPHA:98505": "Genetic motor neuron disease / Genetic anterior horn cell disease", "ORPHA:98503": "Motor neuron disease / Anterior horn cell disease", "ORPHA:98518": "Cranial nerve and nuclear aplasia", "ORPHA:98516": "Malformation of the cerebellar hemispheres", "ORPHA:98514": "Malformation of the cerebellar vermis", "ORPHA:117573": "Syndromic anorectal malformation", "ORPHA:104077": "Myopathic intestinal pseudoobstruction", "ORPHA:104076": "Leiomyosarcoma of small intestine", "ORPHA:104075": "Adenocarcinoma of the small intestine / Adenocarcinoma of the small bowel", "ORPHA:104013": "Metabolic disease with intestinal involvement", "ORPHA:104012": "Rare inflammatory bowel disease", "ORPHA:104011": "Rare tumor of intestine / Rare intestinal tumor / Rare tumor of bowel", "ORPHA:104010": "Intestinal polyposis syndrome", "ORPHA:104009": "Rare disease involving intestinal motility", "ORPHA:104008": "Short bowel syndrome", "ORPHA:104007": "Congenital enteropathy involving intestinal mucosa development", "ORPHA:104006": "Congenital intestinal disease due to an enzymatic defect", "ORPHA:104005": "Intestinal disease due to fat malabsorption", "ORPHA:104004": "Intestinal disease due to vitamin absorption anomaly", "ORPHA:104003": "Congenital intestinal transport defect", "ORPHA:103920": "Undetermined colitis", "ORPHA:103919": "Autoimmune pancreatitis", "ORPHA:662721": "AIP / Placenta accreta spectrum disorder / Abnormally invasive placenta / PAI", "ORPHA:103917": "OBSOLETE: Autoimmune enteropathy type 3", "ORPHA:103915": "OBSOLETE: Immunoproliferative small intestinal disease / OBSOLETE: IPSID / OBSOLETE: Mediterranean lymphoma", "ORPHA:103916": "OBSOLETE: Autoimmune enteropathy type 2", "ORPHA:103912": "OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome", "ORPHA:103908": "Congenital sodium diarrhea / CSD / NHE3 deficiency / Na-H exchanger 3 deficiency / Non-syndromic congenital sodium diarrhea / Sodium/proton exchanger-3 deficiency", "ORPHA:103907": "Chronic diarrhea due to glucoamylase deficiency / Maltase-glucoamylase deficiency", "ORPHA:102724": "Acute myeloid leukemia with t(8;21)(q22;q22) translocation / AML with t(8;21)(q22;q22) translocation", "ORPHA:102379": "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent / AML and myelodysplastic syndromes related to alkylating agent", "ORPHA:102381": "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor / AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor", "ORPHA:109011": "Non-syndromic limb malformation", "ORPHA:109009": "Syndrome with limb malformations as a major feature", "ORPHA:117569": "Rare intestinal disease", "ORPHA:109007": "Arthrogryposis syndrome", "ORPHA:108995": "Syndromic respiratory or mediastinal malformation", "ORPHA:108993": "Non-syndromic respiratory or mediastinal malformation", "ORPHA:108999": "Rare disorder due to toxic effects", "ORPHA:108997": "Rare anemia", "ORPHA:108987": "OBSOLETE: Syndromic developmental defect of the eye", "ORPHA:108985": "OBSOLETE: Non-syndromic developmental defect of the eye", "ORPHA:108991": "Syndrome with a central nervous system malformation as a major feature", "ORPHA:108989": "Non-syndromic central nervous system malformation", "ORPHA:108977": "Non-syndromic diaphragmatic or abdominal wall malformation", "ORPHA:108979": "Syndromic diaphragmatic or abdominal wall malformation", "ORPHA:108969": "Syndromic intestinal malformation", "ORPHA:108971": "Non-syndromic visceral malformation", "ORPHA:108973": "Syndromic visceral malformation", "ORPHA:108961": "Syndromic esophageal malformation", "ORPHA:108963": "Non-syndromic gastroduodenal malformation", "ORPHA:108965": "Syndromic gastroduodenal malformation", "ORPHA:108967": "Non-syndromic intestinal malformation", "ORPHA:104078": "Unclassified intestinal pseudoobstruction", "ORPHA:108959": "Non-syndromic esophageal malformation", "ORPHA:101995": "Periodic fever syndrome", "ORPHA:101992": "Immunodeficiency due to a complement cascade protein anomaly", "ORPHA:101998": "Rare epilepsy", "ORPHA:101997": "Primary immunodeficiency", "ORPHA:102002": "Rare ataxia", "ORPHA:102003": "Rare movement disorder", "ORPHA:102000": "Medullar disease", "ORPHA:102006": "Neurovascular malformation", "ORPHA:102005": "Brain inflammatory disease", "ORPHA:101978": "OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells", "ORPHA:101977": "Immunodeficiency predominantly affecting antibody production", "ORPHA:101982": "OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells", "ORPHA:101980": "OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells", "ORPHA:101987": "Congenital neutropenia / Constitutional neutropenia", "ORPHA:101985": "Quantitative and/or qualitative congenital phagocyte defect", "ORPHA:101988": "Primary immunodeficiency due to a defect in innate immunity", "ORPHA:102024": "Human herpesvirus 8-related disorder / HHV-8-related disorder", "ORPHA:102025": "OBSOLETE: Nuclear cell envelopathy", "ORPHA:102069": "OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis / OBSOLETE: Cholestatic hepatic amyloidosis", "ORPHA:102237": "Unexplained periodic fever syndrome", "ORPHA:102283": "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability / MCA/MR / Multiple congenital anomalies-intellectual disability with or without dysmorphism", "ORPHA:102284": "OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome / OBSOLETE: MCA/variable MR / OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome", "ORPHA:102285": "Multiple congenital anomalies/dysmorphic syndrome without intellectual disability / MCA without intellectual disability / Multiple congenital anomalies without intellectual disability with or without dysmorphism", "ORPHA:102369": "Rare syndromic intellectual disability", "ORPHA:102373": "OBSOLETE: Primary glomerular disease", "ORPHA:102009": "Classic lissencephaly / Lissencephaly type 1", "ORPHA:102011": "Lissencephaly type 3", "ORPHA:102010": "Other syndrome with lissencephaly as a major feature", "ORPHA:102013": "Complex hereditary spastic paraplegia / Complex HSP / Complex SPG / Complex familial spastic paraplegia / Complicated HSP / Complicated SPG / Complicated familial spastic paraplegia / Complicated hereditary spastic paraplegia", "ORPHA:102012": "Pure hereditary spastic paraplegia / Pure HSP / Pure SPG / Pure familial spastic paraplegia / Uncomplicated HSP / Uncomplicated SPG / Uncomplicated familial spastic paraplegia / Uncomplicated hereditary spastic paraplegia", "ORPHA:102015": "Autosomal recessive limb-girdle muscular dystrophy", "ORPHA:102014": "Autosomal dominant limb-girdle muscular dystrophy", "ORPHA:102021": "Rickettsial disease / Rickettsiae disease", "ORPHA:102020": "Autosomal monosomy syndrome / Autosomal deletion", "ORPHA:102023": "Typhus-group rickettsiosis / Typhus-group rickettsiae disease", "ORPHA:102022": "Spotted fever rickettsiosis / Spotted fever rickettsiae disease", "ORPHA:101934": "Genetic cardiac rhythm disease", "ORPHA:101932": "Anomaly of the mitral subvalvular apparatus", "ORPHA:101685": "Rare non-syndromic intellectual disability / Rare NSID", "ORPHA:101943": "Rare hepatic and biliary tract tumor", "ORPHA:101940": "Rare metabolic liver disease", "ORPHA:101941": "Rare biliary tract disease", "ORPHA:101938": "Rare vascular liver disease", "ORPHA:101939": "Rare parenchymal liver disease", "ORPHA:101936": "Rare gastroesophageal disease", "ORPHA:101937": "Rare pancreatic disease", "ORPHA:101351": "Familial isolated congenital asplenia", "ORPHA:101338": "OBSOLETE: Mediterranean spotted fever", "ORPHA:101337": "OBSOLETE: Marseilles fever", "ORPHA:101435": "Rare genetic eye disease / Rare genetic ophthalmologic disease", "ORPHA:101433": "Rare urogenital disease", "ORPHA:101356": "OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome", "ORPHA:101960": "Genetic chronic primary adrenal insufficiency", "ORPHA:101963": "Acquired chronic primary adrenal insufficiency", "ORPHA:101972": "Combined T and B cell immunodeficiency", "ORPHA:101949": "OBSOLETE: Rare acquired eye disease", "ORPHA:101950": "Rare eye tumor", "ORPHA:101945": "Rare bronchopulmonary and pleural cavity tumors", "ORPHA:101944": "Rare pulmonary disease", "ORPHA:101957": "Pituitary deficiency", "ORPHA:101956": "Polyendocrinopathy", "ORPHA:101959": "Chronic primary adrenal insufficiency / CPAI / Chronic adrenocorticoid insufficiency", "ORPHA:101958": "Primary adrenal insufficiency", "ORPHA:101953": "Rare dyslipidemia", "ORPHA:101952": "Rare diabetes mellitus", "ORPHA:101955": "Rare thyroid disease", "ORPHA:101954": "Rare adrenal disease", "ORPHA:664511": "Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency / Early-onset severe Hermansky-Pudlak syndrome with deafness / Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency / Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency / HPS10 / Hermansky-Pudlak syndrome type 10", "ORPHA:664500": "Hermansky-Pudlak syndrome due to AP3B1 deficiency / HPS2 / Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency / Hermansky-Pudlak syndrome type 2 / Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency", "ORPHA:101151": "Dystonia 14 / DYT14", "ORPHA:664482": "Primary hemophagocytic lymphohistiocytosis without hypopigmentation / Genetic HLH without hypopigmentation / Genetic hemophagocytic lymphohistiocytosis without hypopigmentation / Primary HLH without hypopigmentation", "ORPHA:664456": "Immune dysregulation disease with immunodeficiency associated with EBV susceptibility / Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility", "ORPHA:664450": "Inherited cancer-predisposing lymphoproliferative syndrome", "ORPHA:664438": "Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome / Liang-Wang syndrome", "ORPHA:101107": "Spinocerebellar ataxia type 22 / SCA22", "ORPHA:664430": "Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome / SLC4A10-related neurodevelopmental disorder", "ORPHA:664416": "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation", "ORPHA:664410": "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome / MEF2C-related syndrome / Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language", "ORPHA:101106": "OBSOLETE: Non-secreting chemodectoma", "ORPHA:665058": "Common arterial trunk with pulmonary dominance and interrupted aortic arch", "ORPHA:101336": "OBSOLETE: Kenya tick typhus / OBSOLETE: Kenya tick-bite fever", "ORPHA:667589": "Isolated congenital femoral bifurcation / Isolated congenital distal femoral duplication", "ORPHA:101335": "OBSOLETE: Indian tick typhus", "ORPHA:665044": "Common arterial trunk with aortic dominance", "ORPHA:101334": "African tick typhus", "ORPHA:664912": "Neonatal renal venous thrombosis / NRVT / Neonatal RVT", "ORPHA:664923": "Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome / NEDMABA disorder / Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies", "ORPHA:664787": "Nicolau syndrome / Embolia cutis medicamentosa / Livedo-like dermatitis", "ORPHA:664901": "Trigeminal trophic syndrome / TTS / Trigeminal neuropathy with nasal ulceration / Trigeminal neurotrophic ulceration / Trophic ulceration of the ala nasi", "ORPHA:664729": "EBV-induced lymphoproliferative disease due to TET2 deficiency / Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency", "ORPHA:664734": "EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature / Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature", "ORPHA:664726": "EBV-induced lymphoproliferative disease due to CD137 deficiency / Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency", "ORPHA:101206": "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome / APV/ADA, Fallot type / Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome / PVA/ADA, Fallot type", "ORPHA:664711": "EBV-induced lymphoproliferative disease due to PRKCD deficiency / EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency", "ORPHA:664699": "EBV-induced lymphoproliferative disease due to RASGRP1 deficiency / Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency", "ORPHA:662473": "Duodenal duplication", "ORPHA:101085": "Charcot-Marie-Tooth disease type 1F / CMT1F", "ORPHA:662456": "Small intestine duplication / Small bowel duplication", "ORPHA:662480": "Jejuno-ileal duplication", "ORPHA:101088": "X-linked hyper-IgM syndrome / HIGM1 / Hyper-IgM syndrome due to CD40 ligand deficiency / Hyper-IgM syndrome due to CD40L deficiency / Hyper-IgM syndrome type 1 / XHIGM", "ORPHA:662388": "Gallbladder duplication", "ORPHA:662376": "Gastric duplication / Stomach duplication", "ORPHA:662405": "Pyloric duplication / Congenital double pylorus / Duplication cyst of the pyloric canal / Duplication cyst of the pylorus", "ORPHA:101083": "Charcot-Marie-Tooth disease type 1C / CMT1C", "ORPHA:662392": "Colonic duplication / Duplication of the colon", "ORPHA:101084": "Charcot-Marie-Tooth disease type 1D / CMT1D", "ORPHA:662240": "Frey syndrome / Auriculo-temporal syndrome / Auriculotemporal syndrome / Baillarger syndrome / Dupuy syndrome / Gustatory hyperhidrosis", "ORPHA:662234": "Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome / Radio-Tartaglia syndrome / SPEN-related neurodevelopmental disorder", "ORPHA:662367": "NESCAV syndrome / Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome", "ORPHA:662255": "Grisel syndrome / Atlantoaxial non-traumatic subluxation", "ORPHA:662216": "Mucopolysaccharidosis type 10 / Mucopolysaccharidosis type X, MSP type X,MPS10 Mucopolysaccharidosis due to ARSK deficiency", "ORPHA:662207": "Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome / HNRPH1-related neurodevelopmental disorder / Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects", "ORPHA:662229": "Episodic memory defect leukoencephalopathy / Hippocampal memory defect leukoencephalopathy / White matter hyperintensities-Episodic memory defect leukoencephalopathy", "ORPHA:664377": "MGP-related spondyloepiphyseal dysplasia / MGP-related SED / Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome", "ORPHA:101102": "Charcot-Marie-Tooth disease type 2H / AR-CMT2C / Autosomal recessive axonal CMT4C2 / Axonal Charcot-Marie-Tooth disease with pyramidal involvement / CMT2H", "ORPHA:664401": "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation", "ORPHA:101101": "Charcot-Marie-Tooth disease type 2B2 / AR-CMT2B2 / Autosomal recessive axonal CMT4C3 / Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2", "ORPHA:664404": "6q25.1 microdeletion syndrome", "ORPHA:101104": "Marin-Amat syndrome", "ORPHA:101097": "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness / ARCMT2K / Autosomal recessive axonal CMT4C4 / Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K", "ORPHA:664372": "Soft and hard cleft palate / Combined form of soft and hard cleft palate / Isolated cleft of the soft and hard palate", "ORPHA:662762": "Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome / ARPC4-related syndrome", "ORPHA:101090": "Hyper-IgM syndrome type 3 / HIGM3 / Hyper-IgM syndrome due to CD40 deficiency", "ORPHA:662786": "Vasa previa", "ORPHA:101089": "Hyper-IgM syndrome type 2 / AID deficiency / Activation-induced cytidine deaminase deficiency / HIGM2", "ORPHA:662829": "Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome", "ORPHA:101092": "Hyper-IgM syndrome type 5 / HIGM5 / Hyper-IgM syndrome due to UNG deficiency / Hyper-IgM syndrome due to uracil N-glycosylase", "ORPHA:662934": "Acute megakaryoblastic leukemia in adult / AMKL in adult / AML M7 in adult / Acute megakaryocytic leukemia in adult / Acute myeloid leukemia M7 in adult", "ORPHA:101091": "Hyper-IgM syndrome type 4 / HIGM4", "ORPHA:675362": "Hobnail hemangioma / HH / THH / Targetoid hemosiderotic hemangioma", "ORPHA:675359": "Anastomosing haemangioma", "ORPHA:101052": "OBSOLETE: Microlissencephaly type B", "ORPHA:675216": "Spinocerebellar ataxia type 27B", "ORPHA:101049": "Familial hypocalciuric hypercalcemia type 2 / FHH type 2", "ORPHA:101050": "Familial hypocalciuric hypercalcemia type 3 / FHH type 3", "ORPHA:674968": "Bilateral diffuse uveal melanocytic proliferation disease / BDUMP / Paraneoplastic uveal melanocytic hyperplasia", "ORPHA:675380": "Isolated segmental infantile hemangioma / Large segmental hemangioma / Segmental hemangioma of infancy", "ORPHA:675369": "Microvenular haemangioma / MVH", "ORPHA:101043": "Congenital aortic valve dysplasia", "ORPHA:674943": "Isolated angioid streaks", "ORPHA:674935": "Torpedo Maculopathy / Atypical macular coloboma / Congenital hypomelanotic freckle / Paramacular albinotic spot syndrome / Solitary hypopigmented nevus of the retinal pigment epithelium / TM", "ORPHA:674930": "Perifoveal exudative vascular anomalous complex / PEVAC", "ORPHA:101042": "OBSOLETE: Taussig-Bing syndrome", "ORPHA:674924": "Isolated retinal racemose hemangioma / Isolated retinal arteriovenous aneurysm 3 / RRH", "ORPHA:674965": "Choroidal osteoma", "ORPHA:674958": "Stellate multiform amelanotic choroidopathy / SMACH / Serous maculopathy due to aspecific choroidopathy", "ORPHA:674953": "Multiple evanescent white dot syndrome / MEWDS", "ORPHA:674947": "Diffuse unilateral subacute neuroretinitis / DUSN / Unilateral wipe-out syndrome", "ORPHA:101068": "Congenital stromal corneal dystrophy / CSCD / Congenital hereditary stromal dystrophy / Witschel dystrophy", "ORPHA:675767": "Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency / SCN-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency / Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to signal recognition protein 54 deficiency", "ORPHA:101071": "Unilateral hemispheric polymicrogyria", "ORPHA:675597": "Acquired elastotic haemangioma", "ORPHA:675396": "Epithelioid hemangioma / ALHE / Angiolymphoid hyperplasia with eosinophilia / EH", "ORPHA:675404": "May-Thurner syndrome / Cockett syndrome / MTS", "ORPHA:675628": "TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome / INFLTR8 / Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome", "ORPHA:101063": "Situs inversus totalis / Complete situs inversus / Complete situs inversus viscerum", "ORPHA:667678": "Intraoral basal cell carcinoma / Basal cell carcinoma of the buccal mucosa / Basal cell carcinoma of the oral cavity / IOBCC intramucosal basal cell carcinoma", "ORPHA:667662": "Breast implant-associated anaplastic large cell lymphoma / Breast implant-associated ALCL / Seroma-associated ALCL", "ORPHA:672979": "Craniosynostosis-facial dysmorphism-brachydactyly syndrome / TCF12-related syndromic craniosynostosis", "ORPHA:673466": "Malignant vascular tumor / Metastatic vascular neoplasm", "ORPHA:672985": "Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome / ZIC1-related syndromic craniosynostosis", "ORPHA:101022": "Mediterranean macrothrombocytopenia", "ORPHA:101023": "Cleft hard palate", "ORPHA:673473": "Borderline vascular tumor / Intermediate tumors / Locally aggressive tumors", "ORPHA:673470": "Benign vascular tumor", "ORPHA:673580": "Classic pilocytic astrocytoma / Juvenile pilocytic astrocytoma", "ORPHA:673585": "Pilocytic astrocytoma with histological features of anaplasia / Anaplastic pilocytic astrocytoma", "ORPHA:101033": "OBSOLETE: Peters anomaly-cataract syndrome", "ORPHA:674499": "Proteoglycan-related bone disorder", "ORPHA:101036": "OBSOLETE: Zlotogura-Martinez syndrome", "ORPHA:674648": "Syndrome with congenital phagocyte functional defect as a major feature / Syndrome with congenital functional defect of phagocyte as a major feature / Syndrome with constitutional functional phagocyte defect as a major feature", "ORPHA:674653": "Actinomyopathy-associated syndromic thrombocytopenia / ACTB-AST", "ORPHA:674762": "Early-onset autoinflammatory syndrome due to A20 haploinsufficiency / Early-onset AID due to HA20 / Early-onset autoinflammatory disorder due to HA20 / Early-onset autoinflammatory syndrome associated with TNFAIP3 / HA20-related monogenic Behcet-like disease", "ORPHA:674896": "Non-syndromic congenital phagocyte functional defect / Non-syndromic congenital functional defect of phagocytes / Non-syndromic constitutional functional phagocyte defect", "ORPHA:673525": "Intravascular papillary endothelial hyperplasia / IPEH / Masson's hemangioma / Masson's tumor / Masson's vegetant intravascular hemangiendothelioma / Reactive papillary endothelial hyperplasia / Vegetant intravascular hemangioendothelioma", "ORPHA:673538": "Littoral cell hemangioma of the spleen / LCA / Littoral cell angioma", "ORPHA:673543": "Papillary hemangioma / Papillary capillary hemangioma", "ORPHA:101030": "Subependymal nodular heterotopia", "ORPHA:101029": "Sub-cortical nodular heterotopia", "ORPHA:673556": "Pseudomyogenic hemangioendothelioma", "ORPHA:673568": "Eccrine angiomatous hamartoma / EAH / Eccrine angiomatous nevus", "ORPHA:673574": "Reactive angioendotheliomatosis / Cutaneous reactive dermatoses / RA", "ORPHA:100057": "RAE / Renin-angiotensin-aldosterone system-blocker-induced angioedema / ACE inhibitor-related acquired angioedema / ACEI-related acquired angioedema / Acquired angioedema with normal C1 inhibitor / Acquired angioedema with normal C1INH / RAAS-blocker-induced angioedema / RAAS-blocker-induced angioneurotic edema / Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema", "ORPHA:685067": "Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome / ARED14 / Autosomal recesive ectodermal dysplasia 14", "ORPHA:685082": "Pediatric acute respiratory distress syndrome / PARDS / Pediatric ARDS", "ORPHA:685017": "Combined immunodeficiency due to TBX1 deficiency", "ORPHA:100982": "Autosomal recessive pure spastic paraplegia / Autosomal recessive pure HSP / Autosomal recessive pure SPG / Autosomal recessive uncomplicated HSP / Autosomal recessive uncomplicated SPG / Autosomal recessive uncomplicated spastic paraplegia", "ORPHA:100981": "Autosomal recessive complex spastic paraplegia / Autosomal recessive complex HSP / Autosomal recessive complex SPG / Autosomal recessive complicated HSP / Autosomal recessive complicated SPG / Autosomal recessive complicated spastic paraplegia", "ORPHA:685004": "Primary pericardial mesothelioma / PPM / Primary malignant pericardial mesothelioma", "ORPHA:100980": "Autosomal dominant pure spastic paraplegia / Autosomal dominant pure HSP / Autosomal dominant pure SPG / Autosomal dominant uncomplicated HSP / Autosomal dominant uncomplicated SPG / Autosomal dominant uncomplicated spastic paraplegia", "ORPHA:685010": "Mesothelioma of the tunica vaginalis / Malignant mesothelioma of the tunica vaginalis", "ORPHA:100979": "Autosomal dominant complex spastic paraplegia / Autosomal dominant complex HSP / Autosomal dominant complex SPG / Autosomal dominant complicated HSP / Autosomal dominant complicated SPG / Autosomal dominant complicated spastic paraplegia", "ORPHA:100978": "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome / Benallegue-Lacete syndrome", "ORPHA:684757": "Malformation of the anal canal and the rectum", "ORPHA:686468": "Post 5-alpha-reductase inhibitors treatment syndrome", "ORPHA:686475": "Post-selective serotonin reuptake inhibitor sexual dysfunction / PSSD / Post-SSRI sexual dysfunction", "ORPHA:100990": "OBSOLETE: Autosomal dominant spastic paraplegia type 9 / OBSOLETE: SPG9", "ORPHA:686462": "Non-fibrotic hypersensitivity pneumonitis", "ORPHA:686465": "Fibrotic hypersensitivity pneumonitis", "ORPHA:686447": "IFNG-responsive severe mendelian susceptibility to mycobacterial diseases / IFNG-responsive severe MSMD / Interferon gamma-responsive severe mendelian susceptibility to mycobacterial diseases", "ORPHA:687424": "10p15 microdeletion syndrome / Del(10)(p15) / Deletion 10p15", "ORPHA:686999": "Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome / PLAAT3-related lipodystrophy syndrome", "ORPHA:686556": "Isolated congenital cholesteatoma of the middle ear / CCME / CMEC / Congenital middle ear cholesteatoma", "ORPHA:686495": "MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome", "ORPHA:686488": "RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome / RNU4-2-related neurodevelopmental syndrome", "ORPHA:686482": "BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome / BPTF-related NEDDFL / BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", "ORPHA:688563": "Combined immunodeficiency with normal Ig and poor specific antibody response / CID with normal Ig and poor specific antibody response / Combined immunodeficiency with normal immunoglobulins and poor specific antibody response", "ORPHA:688543": "Reticular dysgenesis-like severe combined immunodeficiency / Activated RAC2-associated severe combined immunodeficiency / Activated Rac2 defect / Non-syndromic reticular dysgenesis / Reticular dysgenesis-like SCID", "ORPHA:688523": "Splenic venous malformation / Splenic cavernous malformation / Splenic slow flow venous malformation / Venous malformation of the spleen", "ORPHA:687741": "Multisystem Langerhans cell histiocytosis / Multisystem Langerhans cell granulomatosis / Multisystem histiocytosis X", "ORPHA:687738": "Single-system multifocal Langerhans cell histiocytosis / Single-system multifocal Langerhans cell granulomatosis / Single-system multifocal histiocytosis X", "ORPHA:687733": "Pulmonary Langerhans cell histiocytosis / PLCH / Single-system Langerhans cell granulomatosis / Single-system pulmonary Langerhans cell histiocytosis / Single-system pulmonary histiocytosis X", "ORPHA:687730": "Unifocal Langerhans cell histiocytosis / Unifocal Langerhans cell granulomatosis / Unifocal histiocytosis X", "ORPHA:687695": "10p13-p14 deletion syndrome / Del(10)(p13p14) / Deletion 10p13-p14", "ORPHA:675822": "Well-differentiated papillary mesothelial tumour of the pleura", "ORPHA:100088": "Rare thyroid carcinoma", "ORPHA:675833": "Localized pleural mesothelioma", "ORPHA:675837": "Diffused pleural mesothelioma", "ORPHA:100091": "Adrenal/paraganglial tumor", "ORPHA:675841": "Pleural mesothelioma in situ", "ORPHA:100090": "Rare parathyroid tumor", "ORPHA:675775": "Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome", "ORPHA:675782": "Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN / Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5", "ORPHA:100087": "Rare thyroid tumor", "ORPHA:675814": "Adenomatoid tumour of the pleura", "ORPHA:676039": "Combined immunodeficiency due to FOXN1 haploinsufficiency", "ORPHA:100101": "Neuroendocrine tumor with other location", "ORPHA:676125": "X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency / DEX / Deficiency in ELF4, X-linked / X-AIDE / X-linked autoinflammatory and immunodeficiency disease associated with ELF4 / X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency", "ORPHA:675976": "Adenomatoid tumour of the peritoneum", "ORPHA:676030": "Primary benign peritoneal tumor", "ORPHA:100092": "Gastroenteropancreatic neuroendocrine neoplasm / GEP-NEN", "ORPHA:676033": "Well-differentiated papillary mesothelial tumour of the peritoneum", "ORPHA:676036": "Peritoneal mesothelioma in situ", "ORPHA:100094": "Multiple polyglandular tumor", "ORPHA:684216": "Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome / BEFAHRS / Beck-Fahrner syndrome / Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome / TET3 deficiency / TET3-related Beck-Fahrner syndrome", "ORPHA:100932": "OBSOLETE: Nuclear oculomotor paralysis", "ORPHA:100642": "NON RARE IN EUROPE: Gonorrhea", "ORPHA:684305": "NOCGUS syndrome / Neuro-oculo-cardio-genito-urinary syndrome / Neurooculocardiogenitourinary syndrome", "ORPHA:100974": "FRAXF syndrome", "ORPHA:684290": "Hypertrophic olivary degeneration / HOD", "ORPHA:684752": "Isolated anal canal duplication / ACD", "ORPHA:684742": "2q13 microdeletion syndrome / del2q13 syndrome", "ORPHA:684232": "Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome / Den Hoed-De Boer-Voisin syndrome", "ORPHA:684226": "Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome / KMT5B haploinsufficiency neurodevelopmental disorder", "ORPHA:684247": "Isolated growth hormone deficiency type IV", "ORPHA:684240": "Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome / KABAMAS / Kaya-Barakat-Masson syndrome", "ORPHA:100054": "F12-related hereditary angioedema with normal C1Inh / F12-related HAE with normal C1 inhibitor / HAE 3 / HAE-III / Hereditary angioedema type 3 / Hereditary angioneurotic edema type 3 / Inherited estrogen-associated angioedema / Inherited estrogen-associated angioneurotic edema / Inherited estrogen-dependent angioedema / Inherited estrogen-dependent angioneurotic edema", "ORPHA:100051": "Hereditary angioedema type 2 / HAE 2 / HAE-II / Hereditary angioneurotic edema type 2", "ORPHA:100056": "Acquired angioedema type 1 / Acquired angioneurotic edema type 1", "ORPHA:100055": "Acquired angioedema type 2 / AAE 2 / AAE II / Acquired angioneurotic edema type 2", "ORPHA:100067": "Waterhouse-Friderichsen syndrome", "ORPHA:100071": "Mosaic trisomy 3 syndrome / Mosaic trisomy chromosome 3 / Trisomy 3 mosaicism", "ORPHA:100072": "OBSOLETE: True vascular thoracic outlet syndrome", "ORPHA:688571": "Combined immunodeficiency with low immunoglobulins / CID with low Ig / Combined immunodeficiency low Ig", "ORPHA:100020": "Myelodysplastic neoplasm with increased blasts type 2 / MDS-IB2 / RAEB-2 / Refractory anemia with excess blasts type 2", "ORPHA:100019": "Myelodysplastic neoplasm with increased blasts type 1 / MDS-IB1 / RAEB-1 / Refractory anemia with excess blasts type 1", "ORPHA:688581": "Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome / MFHIEN / Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome", "ORPHA:688594": "Combined immunodeficiency due to RELB deficiency / CID due to RELB deficiency / Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency", "ORPHA:100022": "Extramedullary soft tissue plasmacytoma", "ORPHA:688642": "Turnpenny-Fry syndrome / PCGF2-related disorder / TPFS", "ORPHA:100021": "Primary plasmacytoma of the bone", "ORPHA:688649": "Isolated adrenal medullary hyperplasia / Isolated AMH", "ORPHA:688995": "Scarlet fever / Scarlatina", "ORPHA:689001": "Isolated spontaneous vertebral artery dissection / CeAD / SCAD", "ORPHA:689021": "Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome / Anoctamin-5-related myopathy pseudometabolic phenotype", "ORPHA:100032": "Hypocalcified amelogenesis imperfecta / Amelogenesis imperfecta type 3", "ORPHA:100031": "Hypoplastic amelogenesis imperfecta / Amelogenesis imperfecta type 1", "ORPHA:100034": "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism / Amelogenesis imperfecta type 4", "ORPHA:100033": "Hypomaturation amelogenesis imperfecta / Amelogenesis imperfecta type 2", "ORPHA:689231": "IFH1-related hereditary spastic paraplegia", "ORPHA:100035": "Solitary necrotic nodule of the liver / Hepatic solitary necrotic nodule", "ORPHA:689234": "RNASEH2B-related hereditary spastic paraplegia", "ORPHA:689401": "Acquired hypothalamic obesity", "ORPHA:689397": "Poirier-Bienvenue neurodevelopmental syndrome", "ORPHA:100039": "Familial pseudohyperkalemia type 1", "ORPHA:689408": "Shashi-Pena syndrome", "ORPHA:100040": "OBSOLETE: Familial pseudohyperkalemia type 2", "ORPHA:689430": "Adenoid ameloblastoma / AA", "ORPHA:100041": "OBSOLETE: Familial pseudohyperkalemia, Cardiff type", "ORPHA:689422": "Okur-Chung neurodevelopmental syndrome", "ORPHA:100043": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A / CMTDIA", "ORPHA:100044": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B / CMTDIB", "ORPHA:100045": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C / CMTDIC", "ORPHA:689829": "Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome", "ORPHA:100046": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D / CMTDID", "ORPHA:689822": "Structural heart defects-renal anomalies syndrome / SHDRA syndrome / Severe congenital heart defects-renal anomalies syndome", "ORPHA:100047": "Esophageal duplication cyst", "ORPHA:100048": "Tubular duplication of the esophagus", "ORPHA:100049": "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies / Primary ILD specific to childhood due to pulmonary surfactant protein anomalies", "ORPHA:100016": "Lissencephaly with cerebellar hypoplasia type F", "ORPHA:100015": "Lissencephaly with cerebellar hypoplasia type E", "ORPHA:647667": "Mandibuloacral dysplasia associated to MTX2 / MADaM / MDPS / Mandibuloacral dysplasia progeroid syndrome", "ORPHA:647676": "Multiple epiphyseal dysplasia type 7 / CANT1-related multiple epiphyseal dysplasia / EDM7 / MED7", "ORPHA:646113": "Intermediate collagen VI-related muscular dystrophy / Intermediate COL6-RD", "ORPHA:100012": "Lissencephaly with cerebellar hypoplasia type B", "ORPHA:646136": "Dysplastic cortical hyperostosis, Al-Gazali type", "ORPHA:100011": "Lissencephaly with cerebellar hypoplasia type A", "ORPHA:646139": "Dysplastic cortical hyperostosis", "ORPHA:100014": "Lissencephaly with cerebellar hypoplasia type D", "ORPHA:646278": "CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome / CDK13-related disorder", "ORPHA:100013": "Lissencephaly with cerebellar hypoplasia type C", "ORPHA:645854": "Multifocal tuberculosis", "ORPHA:645859": "Primary tuberculosis of the digestive system", "ORPHA:645874": "Primary genito-urinary tuberculosis / Urogenital tuberculosis", "ORPHA:646098": "Collagen VI-related congenital muscular dystrophy / COL6-RD", "ORPHA:645807": "Primary tuberculous lymphadenitis / Primary tuberculous lymphadenopathy", "ORPHA:645814": "Primary pulmonary tuberculosis / Tuberculosis of respiratory system", "ORPHA:100003": "Intraneural perineurioma", "ORPHA:645822": "Primary bone and joint tuberculosis / Primary musculoskeletal tuberculosis", "ORPHA:645849": "Primary cutaneous tuberculosis / Primary skin tuberculosis", "ORPHA:100000": "Reticular perineurioma", "ORPHA:645793": "Spontaneous intestinal perforation / FIP / Focal intestinal perforation / Isolated perforation / Neonatal focal intestinal perforation / SIP", "ORPHA:100001": "Sclerosing perineurioma", "ORPHA:100002": "Extraneural perineurioma / Soft tissue perineurioma", "ORPHA:645617": "Amyopathic dermatomyositis / Dermatomyositis sine myositis", "ORPHA:99995": "Complex regional pain syndrome type 1 / Algodystrophy / Reflex sympathetic dystrophy", "ORPHA:645613": "Classical dermatomyositis", "ORPHA:645626": "Adermatopathic dermatomyositis / Dermatomyositis sine dermatitis", "ORPHA:645393": "Hemi-myeloschisis / Split cord malformation associated with myeloschisis", "ORPHA:99991": "Relapsing epidemic typhus", "ORPHA:645388": "Hemi-myelomeningocele / Open split-cord malformation", "ORPHA:645401": "True myeloschisis", "ORPHA:645398": "Myeloschisis", "ORPHA:99994": "Complex regional pain syndrome type 2 / Causalgia", "ORPHA:645367": "Conus spinal cord lipoma", "ORPHA:99987": "OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome", "ORPHA:645362": "Dorsal spinal cord lipoma / Conus sparing spinal cord lipoma", "ORPHA:645383": "True myelomeningocele / True MMC", "ORPHA:99989": "Intermediate DEND syndrome / Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form", "ORPHA:645378": "Myelic limited dorsal malformation / MyeLDM", "ORPHA:99990": "Brill-Zinsser disease / Brill disease / Recrudescent typhus", "ORPHA:645354": "Saccular limited dorsal myeloschisis / Saccular LDM", "ORPHA:99986": "OBSOLETE: Familial restrictive cardiomyopathy type 2", "ORPHA:645359": "Intramedullary non-dysraphic spinal cord lipoma", "ORPHA:99985": "OBSOLETE: Familial restrictive cardiomyopathy type 1", "ORPHA:645343": "Non-saccular limited dorsal myeloschisis / Flat LDM / Non-saccular LDM", "ORPHA:645350": "Segmental arterial mediolysis", "ORPHA:99983": "Cutaneous myiasis", "ORPHA:645337": "Terminal myelocystocele", "ORPHA:645340": "Non-terminal myelocystocele", "ORPHA:99981": "Apnea of prematurity", "ORPHA:645325": "Isolated filum lipoma / Lipoma of the filum terminale", "ORPHA:645334": "Retained medullary cord", "ORPHA:645319": "Saccular spinal dysraphism with a stalk to the dome", "ORPHA:645322": "Isolated transitional filum lipoma", "ORPHA:645300": "Lipomatous non-saccular limited dorsal myeloschisis / Lipomatous flat LDM / Lipomatous flat limited dorsal myeloschisis / Lipomatous non-saccular LDM", "ORPHA:645310": "Fibroneural non-saccular limited dorsal myeloschisis / Fibroneural flat LDM / Fibroneural flat limited dorsal myeloschisis / Fibroneural non-saccular LDM", "ORPHA:645294": "Posterior extramedullary conus spinal cord lipoma", "ORPHA:99974": "OBSOLETE: TACI-related selective deficiency of IgA", "ORPHA:645297": "Extramedullary conus spinal cord lipoma", "ORPHA:99973": "OBSOLETE: Immunoglobulin A2 deficiency / OBSOLETE: IgA2 deficiency", "ORPHA:645288": "Terminal extramedullary conus spinal cord lipoma", "ORPHA:99972": "OBSOLETE: Immunoglobulin A1 deficiency / OBSOLETE: IgA1 deficiency", "ORPHA:645291": "Transitional extramedullary conus spinal cord lipoma", "ORPHA:645285": "Chaotic conus spinal cord lipoma", "ORPHA:645282": "Anomaly of the filum", "ORPHA:99970": "Dedifferentiated liposarcoma / DDLS", "ORPHA:645279": "Fibrolipomatous filum anomaly", "ORPHA:645276": "Spinal cord lipoma", "ORPHA:645273": "Dysraphic spinal cord lipoma", "ORPHA:645270": "Open spinal dysraphism with a posterior meningocele", "ORPHA:645202": "Closed spinal dysraphism / Closed spina bifida / Occult spina bifida / Spina bifida occulta", "ORPHA:645196": "Limited dorsal myeloschisis / LDM", "ORPHA:99961": "Benign recurrent intrahepatic cholestasis type 2 / BRIC type 2 / BRIC2", "ORPHA:645193": "Dysraphism with stalk", "ORPHA:645188": "Spinal dermal sinus / Dermal sinus tract", "ORPHA:99960": "Benign recurrent intrahepatic cholestasis type 1 / BRIC type 1 / BRIC1", "ORPHA:643549": "Hao-Fountain syndrome / HAFOUS", "ORPHA:643538": "Hao-Fountain syndrome due to USP7 mutation / HAFOUS due to USP7 mutation", "ORPHA:643503": "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome", "ORPHA:99955": "Charcot-Marie-Tooth disease type 4B1 / CMT4B1", "ORPHA:649929": "Central precocious puberty in male / CPP in boy / CPP in male / Central precocious puberty in boy", "ORPHA:99952": "Charcot-Marie-Tooth disease type 4F / CMT4F", "ORPHA:99951": "Charcot-Marie-Tooth disease type 4E / Autosomal recessive congenital hypomyelinating neuropathy / CMT4E", "ORPHA:99954": "Charcot-Marie-Tooth disease type 4H / CMT4H", "ORPHA:648992": "Non-syndromic bridging bronchus", "ORPHA:649010": "Non-syndromic congenital bronchial atresia / Non-syndromic CBA", "ORPHA:99942": "Autosomal dominant Charcot-Marie-Tooth disease type 2I / CMT2I", "ORPHA:649014": "Bronchial malformation", "ORPHA:99941": "Autosomal dominant Charcot-Marie-Tooth disease type 2G / CMT2G", "ORPHA:649017": "Rare adrenocortical nodular disease", "ORPHA:649029": "Isolated left bronchial isomerism / Left bronchial isomerism without heterotaxy", "ORPHA:99943": "Autosomal dominant Charcot-Marie-Tooth disease type 2J / CMT2J", "ORPHA:99946": "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 / CMT2A1", "ORPHA:99945": "Autosomal dominant Charcot-Marie-Tooth disease type 2L / CMT2L", "ORPHA:648684": "Central retinal artery occlusion / CRAO", "ORPHA:99932": "Heiner syndrome / Cow's milk hypersensitivity", "ORPHA:648919": "Idiopathic catatonia / Idiopathic catatonic syndrome / Isolated catatonia / Isolated catatonic syndrome", "ORPHA:99933": "Pleuropulmonary blastoma type 1", "ORPHA:99934": "Pleuropulmonary blastoma type 2", "ORPHA:99935": "Pleuropulmonary blastoma type 3", "ORPHA:99936": "Autosomal dominant Charcot-Marie-Tooth disease type 2B / CMT2B", "ORPHA:99937": "Autosomal dominant Charcot-Marie-Tooth disease type 2C / CMT2C", "ORPHA:99938": "Autosomal dominant Charcot-Marie-Tooth disease type 2D / CMT2D", "ORPHA:648562": "Ferroportin disease", "ORPHA:648559": "Rare scleritis", "ORPHA:648581": "Digenic hemochromatosis", "ORPHA:648569": "Non-HFE-related hemochromatosis", "ORPHA:648665": "Infectious scleritis", "ORPHA:648681": "Immune-mediated scleritis", "ORPHA:648675": "Idiopathic scleritis", "ORPHA:99930": "Secondary pulmonary hemosiderosis", "ORPHA:99918": "Streptococcal toxic-shock syndrome / Streptococcal TSS", "ORPHA:99917": "Theca steroid-producing cell malignant tumor of ovary, not further specified / Theca (steroid-producing) cell cancer, not further specified", "ORPHA:99916": "Malignant Sertoli-Leydig cell tumor of the ovary / Androblastoma / Arrhenoblastoma / Ovarian Sertoli-Leydig cell cancer / Ovarian malignant Sertoli-Leydig cell tumor / Virilizing ovarian tumor", "ORPHA:99915": "Malignant granulosa cell tumor of the ovary / Granulosa cell cancer / Granulosa cell malignant tumor", "ORPHA:99922": "Ocular cicatricial pemphigoid", "ORPHA:99920": "Acute graft versus host disease", "ORPHA:99919": "Staphylococcal toxic-shock syndrome / Staphylococcal TSS", "ORPHA:99909": "OBSOLETE: Occupational allergic alveolitis", "ORPHA:99908": "OBSOLETE: Pigeon-breeder lung disease / OBSOLETE: Bird fancier lung", "ORPHA:99907": "OBSOLETE: House allergic alveolitis", "ORPHA:99914": "Gynandroblastoma", "ORPHA:99913": "Extragonadal non-dysgerminomatous germ cell tumor", "ORPHA:99912": "Ovarian dysgerminoma / Dysgerminoma of ovary / Dysgerminomatous germ cell cancer of the ovary", "ORPHA:647815": "Keratitis fugax hereditaria / KFH / Keratoendotheliitis fugax hereditaria", "ORPHA:647811": "Cardiac-urogenital syndrome / MYRF-related cardiac urogenital syndrome", "ORPHA:647804": "Combined immunodeficiency due to FCHO1 deficiency", "ORPHA:99900": "Long chain acyl-CoA dehydrogenase deficiency / LCAD", "ORPHA:647916": "Conjoined twins / Siamese twins", "ORPHA:99905": "Streptobacillary rat-bite fever", "ORPHA:99906": "OBSOLETE: Farmer's lung disease", "ORPHA:647834": "SLC40A1-related hemochromatosis", "ORPHA:99903": "Spirillary rat-bite fever / Sodoku", "ORPHA:647823": "Idiopathic pregnancy-associated osteoporosis / Idiopathic premenopausal osteoporosis associated with pregnancy / Osteoporosis of pregnancy / PAO / PLO / Pregnancy and lactation-associated osteoporosis / Pregnancy induced osteoporosis", "ORPHA:647772": "Isolated primary pigmented nodular adrenocortical disease / Isolated PPNAD / i-PPNAD", "ORPHA:99893": "OBSOLETE: ACTH-independent Cushing syndrome / OBSOLETE: Adrenal Cushing syndrome / OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome / OBSOLETE: Corticotropin-independent Cushing syndrome", "ORPHA:647768": "Rare adrenocortical nodular disease with Cushing syndrome as a major feature", "ORPHA:647758": "Adrenal Cushing syndrome / Adrenal CS", "ORPHA:647681": "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome / ERF-related syndromic craniosynostosis", "ORPHA:99892": "ACTH-dependent Cushing syndrome / ACTH-dependent CS / Adrenocorticotropic hormone-dependent Cushing syndrome / Corticotropin-dependent Cushing syndrome", "ORPHA:647799": "MYT1L-related developmental delay-intellectual disability-obesity syndrome / MYT1L-associated neurodevelopmental disorder", "ORPHA:647794": "Isolated persistent urogenital sinus / Isolated PUGS", "ORPHA:99898": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency / MSMD due to complete IFNgammaR1 deficiency / MSMD due to complete interferon gamma receptor 1 deficiency / Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency", "ORPHA:647788": "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome / DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome / DHX30-related neurodevelopmental disorder", "ORPHA:647782": "Isolated micronodular adrenocortical disease / i-MAD", "ORPHA:656283": "Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency / AR CID due to complete GP130 deficiency / AR CID due to complete IL6ST deficiency / Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency / Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency / Stüve-Wiedemann syndrome type 2", "ORPHA:656279": "1p36.33 duplication syndrome", "ORPHA:656313": "Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency / AD CID due to partial GP130 deficiency / AD CID due to partial IL6ST deficiency / Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency / Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency", "ORPHA:656300": "Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency / AR CID due to partial GP130 deficiency / AR CID due to partial IL6ST deficiency / Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency / Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency", "ORPHA:99875": "OBSOLETE: Ehlers-Danlos syndrome type 7A / OBSOLETE: EDS VIIA", "ORPHA:656130": "PBX1-related congenital anomalies of kidney and urinary tract syndrome / PBX1-related syndromic CAKUT", "ORPHA:99876": "OBSOLETE: Ehlers-Danlos syndrome type 7B / OBSOLETE: EDS VIIB", "ORPHA:656126": "Segmental spinal dysgenesis / SSD", "ORPHA:99877": "OBSOLETE: Familial parathyroid adenoma", "ORPHA:656273": "OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome", "ORPHA:99878": "OBSOLETE: Primary parathyroid hyperplasia / OBSOLETE: Familial parathyroid hyperplasia / OBSOLETE: Hereditary parathyroid hyperplasia", "ORPHA:656135": "Intellectual disability-cupped ears syndrome / Snijders Blok-Fisher syndrome", "ORPHA:99887": "Acute megakaryoblastic leukemia in children with Down syndrome / Acute megakaryoblastic leukemia in children with trisomy 21 / DS-AMKL in children with Down syndrome / DS-AMKL in children with trisomy 21", "ORPHA:658540": "16q22 deletion syndrome", "ORPHA:99888": "NON RARE IN EUROPE: Adrenocortical adenoma", "ORPHA:656912": "Autosomal dominant combined immunodeficiency due to ERBIN deficiency / AD-CID due to ERBIN deficiency / Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency", "ORPHA:658549": "Idiopathic small fibers neuropathy / Idiopathic-SFN", "ORPHA:656417": "Embryonal tumor with multilayered rosettes / ETMR", "ORPHA:656326": "Autosomal recessive combined immunodeficiency due to IL6R deficiency / AR CID due to IL6R deficiency / Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency", "ORPHA:99864": "OBSOLETE: Classic seminoma", "ORPHA:653712": "CHD4-related neurodevelopmental disorder / CHD4-related neurodevelopmental syndrome / Sifrim-Hitz-Weiss syndrome", "ORPHA:653722": "Digenic Alport syndrome", "ORPHA:99866": "OBSOLETE: Metastatic spermatocytic seminoma", "ORPHA:653725": "Autosomal recessive limb-girdle muscular dystrophy, type 28 / LGMD, type 28 / LGMDR28 / Limb-girdle, type 28R", "ORPHA:99865": "Spermatocytic seminoma", "ORPHA:653728": "Congenital insensitivity to pain syndrome, Marsili type / Marsili syndrome", "ORPHA:99860": "Precursor B-cell acute lymphoblastic leukemia / B-ALL / Precursor B-cell acute lymphoblastic leukemia/lymphoma / Precursor B-cell acute lymphocytic leukemia / Precursor B-cell acute lymphocytic leukemia/lymphoma", "ORPHA:99859": "OBSOLETE: Posttraumatic syringomyelia", "ORPHA:653434": "Autoinflammatory syndrome with acne and/or hidradenitis suppurativa", "ORPHA:653698": "Lymphocytic mastitis / Lymphocytic mastopathy / Sclerosing lymphocytic lobulitis", "ORPHA:99861": "Precursor T-cell acute lymphoblastic leukemia / Precursor T-cell acute lymphoblastic leukemia/lymphoma / Precursor T-cell acute lymphocytic leukemia / Precursor T-cell acute lymphocytic leukemia/lymphoma / T-ALL", "ORPHA:653709": "Cone rod dystrophy-short stature syndrome", "ORPHA:99872": "OBSOLETE: Hashimoto-Pritzker syndrome / OBSOLETE: Congenital Langerhans cell histiocytosis", "ORPHA:99871": "OBSOLETE: Eosinophilic granuloma / OBSOLETE: Chronic and localized Langerhans cell histiocytosis", "ORPHA:99874": "OBSOLETE: Adult pulmonary Langerhans cell histiocytosis / OBSOLETE: Pulmonary histiocytosis X", "ORPHA:656071": "Atrophic papulosis / Degos disease / Köhlmeier-Degos disease", "ORPHA:656085": "Benign atrophic papulosis / BAP", "ORPHA:99873": "OBSOLETE: Hand-Schüller-Christian disease / OBSOLETE: Chronic multifocal Langerhans cell histiocytosis / OBSOLETE: Multifocal eosinophilic granuloma", "ORPHA:653751": "X-linked combined immunodeficiency due to SASH3 deficiency / X-linked CID due to SASH3 deficiency", "ORPHA:653767": "Jansen-de Vries syndrome / Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome / JDVS", "ORPHA:653880": "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency / Crotonase deficiency / ECHS1D", "ORPHA:99870": "OBSOLETE: Letterer-Siwe disease / OBSOLETE: Acute and disseminated Langerhans cell histiocytosis", "ORPHA:99869": "Thymic neuroendocrine carcinoma", "ORPHA:652519": "Cleft palate-congenital heart defect-intellectual disability syndrome", "ORPHA:99849": "Glycogen storage disease due to muscle beta-enolase deficiency / GSD due to muscle beta-enolase deficiency / GSDXIII / Glycogenosis due to muscle beta-enolase deficiency / Glycogenosis type 13 / Muscle enolase deficiency / Muscular enolase deficiency", "ORPHA:652514": "Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation", "ORPHA:652510": "Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa", "ORPHA:652487": "Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome", "ORPHA:99845": "Genetic recurrent myoglobinuria", "ORPHA:650187": "Rare peripheral precocious puberty in female", "ORPHA:99846": "Autosomal dominant myoglobinuria", "ORPHA:650182": "Genetic central precocious puberty / Genetic CPP", "ORPHA:650102": "Non-genetic central precocious puberty in male / Non-genetic CPP in boy / Non-genetic CPP in male / Non-genetic central precocious puberty in boy", "ORPHA:99844": "Leukocyte adhesion deficiency type III / LAD-1 variant / LAD-III / Leukocyte adhesion deficiency-1 variant", "ORPHA:652681": "Idiopathic subglottic stenosis / iSGS", "ORPHA:652678": "Primary inferior vena cava aneurysm", "ORPHA:99858": "Idiopathic syringomyelia", "ORPHA:652668": "Primary superior vena cava aneurysm / SVCA", "ORPHA:99856": "Primary syringomyelia / Congenital syringomyelia", "ORPHA:652658": "Monomorphic epitheliotropic intestinal T-cell lymphoma / Enteropathy-associated T-cell lymphoma type 2 / MEITL", "ORPHA:99853": "Ovarioleukodystrophy", "ORPHA:652650": "Nodal T-follicular helper cell lymphoma, follicular type / Follicular T-cell Lymphoma / Follicular helper T-cell lymphoma, follicular type / Nodal T-cell lymphoma with TFH phenotype / Nodal TFH lymphoma, follicular type / nTFHL-F", "ORPHA:652532": "Adult-onset progressive leukoencephalopathy-early-onset deafness / Adult-onset progressive leukoencephalopathy-early-onset hearing loss", "ORPHA:99854": "Cree leukoencephalopathy", "ORPHA:652528": "Non-syndromic supernumerary kidneys / Non-syndromic accessory kidneys / Non-syndromic accessory kydney", "ORPHA:652522": "Periodic fever-immunodeficiency-thrombocytopenia syndrome / PFITS", "ORPHA:99831": "OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect / OBSOLETE: CVID due to an intrinsic T cell defect", "ORPHA:650092": "Secondary central precocious puberty in male / Secondary CPP in boy / Secondary CPP in male / Secondary central precocious puberty in boy", "ORPHA:99842": "Leukocyte adhesion deficiency type I / LAD-I", "ORPHA:650097": "Genetic central precocious puberty in male / Genetic CPP in boy / Genetic CPP in male / Genetic central precocious puberty in boy", "ORPHA:650082": "Secondary central precocious puberty in female / Secondary CPP in female / Secondary CPP in girl / Secondary central precocious puberty in girl", "ORPHA:650087": "Primary central precocious puberty in male / Primary CPP in boy / Primary CPP in male / Primary central precocious puberty in boy", "ORPHA:650070": "Rare central precocious puberty in female / Rare CPP in female / Rare central precocious puberty in girl", "ORPHA:650077": "Genetic central precocious puberty in female / Genetic CPP in female / Genetic CPP in girl / Genetic central precocious puberty in girl", "ORPHA:650063": "Rare central precocious puberty / Gonadotropin-dependant precocious puberty / Rare CPP", "ORPHA:660017": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome", "ORPHA:660012": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation / NR4A2-related neurodevelopmental syndrome", "ORPHA:660021": "Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome / AMOTL1-related syndrome", "ORPHA:660053": "Psittacosis / Ornithosis / Parrot disease / Parrot fever", "ORPHA:661526": "MBD4-related tumor predisposition syndrome", "ORPHA:99817": "Non-polyposis Turcot syndrome", "ORPHA:661412": "Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency", "ORPHA:662172": "Phelan-McDermid syndrome due to SHANK3 mutation", "ORPHA:662169": "Phelan-McDermid syndrome due to 22q13.3 deletion / Chromosome 22q13.3 deletion syndrome", "ORPHA:662179": "Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome / Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome / Nabais Sa-de Vries type 1 syndrome", "ORPHA:662175": "Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome / Nabais Sa-de Vries type 2 syndrome", "ORPHA:662189": "Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome / HNRNPR-related neurodevelopmental disorder", "ORPHA:662184": "Congenital muscular dystrophy-cataract-intellectual disability syndrome / INPP5K-related syndrome", "ORPHA:662198": "Neurodevelopmental delay-intellectual disability-skeletal defects syndrome / HNRNPH2-Related Neurodevelopmental Disorder", "ORPHA:659707": "Yersinia pseudotuberculosis infection / Y. pseudotuberculosis infection", "ORPHA:99796": "Subcortical band heterotopia / Subcortical laminar heterotopia", "ORPHA:659712": "Rare yersiniosis", "ORPHA:99797": "Anodontia", "ORPHA:659744": "Ocular surface squamous neoplasia / OSSN", "ORPHA:659756": "Oroya fever", "ORPHA:659759": "Verruga peruana / Peruvian warts", "ORPHA:99802": "Hemimegalencephaly / Unilateral megalencephaly", "ORPHA:659873": "Wormian bones-micrognathia-abnormal dentition-progeroid syndrome / LEMD2-associated nuclear envelopathy with early progeroid appearance / Marbach-Rustad progeroid syndrome", "ORPHA:99806": "Oculootodental syndrome / OOD", "ORPHA:659904": "Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome / PRR12-related neuroocular syndrome", "ORPHA:99807": "PEHO-like syndrome", "ORPHA:659908": "Glanders / Burkholderia mallei infection / Equinia / Malleus", "ORPHA:99810": "Familial porencephaly", "ORPHA:659975": "Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome / Neurodevelopmental disorder with hearing loss and spastic quadriplegia / Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome / Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome", "ORPHA:659396": "Cohen-Gibson syndrome / EED-related overgrowth syndrome", "ORPHA:99781": "OBSOLETE: Familial articular chondrocalcinosis type 1 / OBSOLETE: CCAL1", "ORPHA:99782": "OBSOLETE: Familial articular chondrocalcinosis type 2 / OBSOLETE: CCAL2", "ORPHA:659387": "PRC-2 complex-related overgrowth spectrum", "ORPHA:658951": "Early-onset immune dysregulation due to DOCK11 complete deficiency / Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency", "ORPHA:659626": "Single isolated optic neuritis / Isolated single optic neuritis / SION", "ORPHA:659609": "Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome / RAC3-related syndrome", "ORPHA:659463": "Imagawa-Matsumoto syndrome / SUZ12-related overgrowth syndrome", "ORPHA:659672": "Harderoporphyria", "ORPHA:99789": "Dentin dysplasia type I / DD-I / DTDP1 / Radicular dentin dysplasia", "ORPHA:659642": "Rauch-Steindl syndrome / NSD2-related syndrome", "ORPHA:659634": "Relapsing isolated optic neuritis / Isolated relapsing optic neuritis / Isolated relapsing optic neuropathy / RION", "ORPHA:659702": "Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome / ARCN1-related syndrome", "ORPHA:659698": "Hepatic cutaneous porphyria", "ORPHA:659694": "Hepatic porphyria", "ORPHA:99791": "Dentin dysplasia type II / DD-II / DTDP2", "ORPHA:99792": "Dentin dysplasia-sclerotic bones syndrome", "ORPHA:658584": "Rowell syndrome", "ORPHA:658590": "Eyelid sebaceous carcinoma", "ORPHA:99764": "OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 / OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 / OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene / OBSOLETE: FHHA2", "ORPHA:99763": "OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 / OBSOLETE: 18-hydroxylase deficiency / OBSOLETE: 18-oxidase deficiency / OBSOLETE: Aldosterone synthase deficiency / OBSOLETE: CMO I / OBSOLETE: CMO II / OBSOLETE: Corticosterone methyloxidase deficiency type I / OBSOLETE: FHHA1", "ORPHA:658612": "Non-transplant-related bronchiolitis obliterans", "ORPHA:658778": "COQ7-related distal hereditary motor neuropathy", "ORPHA:658595": "DNMT3A-related microcephalic dwarfism / HESJAS / Heyn-Sproul-Jackson syndrome / Microcephaly-short stature-intellectual disability syndrome", "ORPHA:658602": "Transplant-related bronchiolitis obliterans / BOS / Bronchiolitis obliterans syndrome", "ORPHA:658813": "Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency / CIMAH / Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia / Methylenetetrahydrofolate dehydrogenase 1 deficiency", "ORPHA:658843": "Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome", "ORPHA:658805": "Greig cephalopolysyndactyly-contiguous gene syndrome / GCP-CGS", "ORPHA:658810": "Atrophoderma of Pasini and Pierini", "ORPHA:658917": "Clonorchiasis", "ORPHA:99777": "Achalasia-alacrimia syndrome", "ORPHA:658946": "Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency / Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency", "ORPHA:658909": "Fasciolopsiasis", "ORPHA:658913": "Paragonimiasis", "ORPHA:631073": "Autosomal recessive spastic paraplegia type 82", "ORPHA:631076": "Autosomal recessive spastic paraplegia type 83", "ORPHA:631079": "Autosomal recessive spastic paraplegia type 84", "ORPHA:631082": "Autosomal recessive spastic paraplegia type 85", "ORPHA:631068": "Autosomal dominant spastic paraplegia type 80", "ORPHA:631106": "Spinocerebellar ataxia type 49", "ORPHA:631103": "Spinocerebellar ataxia type 48", "ORPHA:631095": "Spinocerebellar ataxia type 44", "ORPHA:631088": "Autosomal recessive spastic paraplegia type 87", "ORPHA:631085": "Autosomal recessive spastic paraplegia type 86", "ORPHA:631251": "Cancer of unknown primary site / CUP / Carcinoma of unknown primary / Carcinoma of unknown primary origin / Metastases without primary tumor", "ORPHA:631248": "Mitchell Syndrome", "ORPHA:626609": "Rare andrological tumor", "ORPHA:634475": "Mosaic NF2-related schwannomatosis / MNF2 / Mosaic neurofibromatosis type 2", "ORPHA:634492": "Mosaic schwannomatosis / MNF3 / Mosaic SWN / Mosaic neurilemmomatosis / Mosaic neurofibromatosis type 3", "ORPHA:634511": "Mosaic Legius syndrome / Mosaic NF1-like syndrome / Mosaic neurofibromatosis 1-like syndrome", "ORPHA:634518": "Neurofibromatosis/schwannomatosis / NF/SWN", "ORPHA:634461": "Mosaic neurofibromatosis type 1 / MNF1 / Mosaic NF1", "ORPHA:633228": "Isolated proximal femoral focal deficiency / CPFD / Isolated congenital proximal femoral deficiency / PFFD", "ORPHA:637064": "Isolated optic nerve aplasia", "ORPHA:637061": "Isolated optic nerve hypoplasia", "ORPHA:636970": "Autosomal recessive myosin storage myopathy / MSMB", "ORPHA:636965": "Autosomal dominant myosin storage myopathy / MSMA", "ORPHA:637051": "Borna virus encephalitis / Bornavirus encephalitis", "ORPHA:637013": "SMARCA2-related blepharophimosis-intellectual disability syndrome", "ORPHA:636945": "Invasive candidiasis / Disseminated candidiasis / Systemic candidiasis", "ORPHA:636941": "Vascular Ehlers-Danlos-polymicrogyria syndrome / Vascular EDS with polymicrogyria", "ORPHA:636955": "Endemic pemphigus foliaceus / Fogo selvagem", "ORPHA:636950": "Glaucomatocyclitic crisis disease / Posner-Schlossman syndrome", "ORPHA:641613": "Endogenous Cushing syndrome / Endogenous CS", "ORPHA:641829": "Neonatal compartment syndrome / CVIC / Congenital Volkmann ischemic contracture syndrome / NCS / Neonatal Volkmann ischemic contracture syndrome / Syndrome de Volkmann congénital", "ORPHA:641496": "Childhood-onset schizophrenia / COS / VEOS / Very early-onset schizophrenia", "ORPHA:641390": "PsAPASH syndrome / Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome", "ORPHA:641396": "Central nervous system tuberculosis / CNS tuberculosis", "ORPHA:641380": "PAPASH syndrome / Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome", "ORPHA:641385": "PASS syndrome / Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome", "ORPHA:641375": "B-lymphoblastic leukemia/lymphoma with t(17;19)", "ORPHA:641368": "Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency / AR-HIES due to ZNF341 deficiency / Autosomal recessive HIES due to ZNF341 deficiency / Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency", "ORPHA:641372": "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)", "ORPHA:641353": "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome / HPDL-related Leigh-like encephalopathy / HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome", "ORPHA:641361": "Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome / Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome / Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome", "ORPHA:641343": "Imprinting disorders", "ORPHA:641350": "Immunotherapy induced hypophysitis", "ORPHA:642976": "Perrault syndrome type 2 / XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations", "ORPHA:642965": "Autosomal recessive ataxia due to PEX2 deficiency / Mild peroxisomal disorder due to PEX2 deficiency", "ORPHA:642954": "Autosomal recessive ataxia due to PEX16 deficiency / Mild peroxisomal disorder due to PEX16 deficiency", "ORPHA:642945": "Perrault syndrome type 1 / XX gonadal dysgenesis-deafness syndrome-without neurological manifestations", "ORPHA:642788": "Cushing syndrome due to cortisol-producing adrenocortical adenoma / CS due to cortisol-producing adrenocortical adenoma", "ORPHA:642763": "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation / H1-4-related neurodevelopmental disorder / Rahman syndrome", "ORPHA:642747": "PUM1-related cerebellar ataxia / Adult-onset SCA47 / Adult-onset spinocerebellar ataxia type 47", "ORPHA:642737": "OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature", "ORPHA:642691": "Fragile X-associated primary ovarian insufficiency / FXPOI / Fragile X-associated POF / Fragile X-associated POI / Fragile X-associated premature ovarian failure / POF associated with fragile X premutation / POI associated with fragile X premutation / Premature ovarian failure associated with fragile X premutation / Primary ovarian insufficiency associated with fragile X premutation", "ORPHA:642675": "CHD8 overgrowth syndrome / CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome / Chromodomain helicase DNA binding protein 8 overgrowth syndrome", "ORPHA:642671": "Familial hyperaldosteronism type IV / FH4", "ORPHA:642099": "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type / SEMD-JL1 / SEMDJL1 / Spondyloepimetaphyseal dysplasia with joint laxity type 1", "ORPHA:642085": "EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity / EXOC6B-SEMD-JL / SEMD-JL3 / SEMDJL3 / Spondyloepimetaphyseal dysplasia with joint laxity type 3", "ORPHA:642071": "Primary pulmonary vein stenosis / Congenital pulmonary vein stenosis / PPVS", "ORPHA:642013": "OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor / OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor", "ORPHA:632603": "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome", "ORPHA:633021": "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome / Kilquist syndrome", "ORPHA:633024": "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome / Delpire-McNeill syndrome", "ORPHA:633004": "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome / Diets-Jongmans Syndrome", "ORPHA:633014": "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome", "ORPHA:633211": "Preaxial digit brachydactyly-webbed fingers / Preaxial brachydactyly, PAX3 type", "ORPHA:633124": "Invasive scopulariopsis infection", "ORPHA:633035": "Intellectual disability-early-onset cataract-microcephaly syndrome / Baralle-Macken syndrome", "ORPHA:633028": "CPE-related Prader-Willi-like syndrome / BDV syndrome / Blakemore-Durmaz-Vasileiou syndrome", "ORPHA:633099": "PAICS deficiency / Phosphoribosylaminoimidazole carboxylase deficiency", "ORPHA:633076": "Split cord malformation, composite type / Split cord malformation type 1.5 / Split cord malformation, intermediate type / Split cord malformation, mixed type", "ORPHA:615938": "Spastic paraparesis-cataracts-speech delay syndrome / Fatty acyl-CoA reductase 1 superactivity", "ORPHA:615943": "Granuloma faciale / Facial granuloma of Lever / Granuloma of Lever", "ORPHA:615986": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster / Lethal 1p36.33 deletion syndrome", "ORPHA:615970": "Chronic intervillositis of unknown etiology / CIUE", "ORPHA:615983": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation", "ORPHA:615954": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome / Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome / Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome", "ORPHA:615964": "Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate / Acute reversible leukoencephalopathy due to SLC13A3 deficiency / Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency", "ORPHA:617449": "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome", "ORPHA:617408": "Classic eosinophilic pustular folliculitis / Classic EPF / Ofuji disease", "ORPHA:617440": "Painful legs and moving toes syndrome / PLMT syndrome", "ORPHA:617307": "Rare disorder related to monochorionic twin pregnancy", "ORPHA:617304": "Amniotic fluid embolism", "ORPHA:617313": "Rare disorder due to inadequate sharing of the placenta", "ORPHA:617310": "Rare disorder due to unbalanced inter-twin blood transfusion", "ORPHA:617294": "Twin anemia-polycythemia sequence / TAPS", "ORPHA:616874": "Rare disorder without a determined diagnosis after full investigation / Fully investigated rare disorder without a determined diagnosis", "ORPHA:617301": "Selective intrauterine growth restriction / Selective fetal growth restriction / sFGR / sIUGR", "ORPHA:617297": "Twin-reversed arterial perfusion sequence / TRAP", "ORPHA:621758": "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome / FINCA / Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome", "ORPHA:620371": "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation / Gitelman-like kidney tubulopathy due to mtDNA mutation", "ORPHA:620368": "EGF-related primary hypomagnesemia with intellectual disability", "ORPHA:620363": "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome", "ORPHA:620217": "Bartter syndrome type 1 / Bartter syndrome type I", "ORPHA:620220": "Bartter syndrome type 2 / Bartter syndrome type II", "ORPHA:620205": "Non-syndromic bicoronal and sagittal craniosynostosis / Isolated bicoronal and sagittal craniosynostosis / Non-syndromic sagittal and bilateral coronal synostosis", "ORPHA:620212": "Non-syndromic pansynostosis / Isolated pansynostosis / Non-syndromic synostosis of all cranial vault sutures", "ORPHA:620192": "Non-syndromic metopic and sagittal craniosynostosis / Isolated metopic and sagittal craniosynostosis / Non-syndromic metopic and sagittal suture synostosis", "ORPHA:620198": "Non-syndromic bicoronal and metopic craniosynostosis / Isolated bicoronal and metopic craniosynostosis / Non-syndromic bilateral coronal and metopic suture synostosis", "ORPHA:620178": "Non-syndromic bilambdoid craniosynostosis / Isolated bilambdoid craniosynostosis / Isolated pachycephaly / Non-syndromic bilateral lambdoid synostosis", "ORPHA:620186": "Non-syndromic unicoronal and sagittal craniosynostosis / Isolated unicoronal and sagittal craniosynostosis / Non-syndromic unilateral coronal and sagittal suture synostosis", "ORPHA:620152": "Non-syndromic multisutural craniosynostosis / Isolated multisutural craniosynostosis / Non-syndromic multiple suture synostosis", "ORPHA:620158": "Non-syndromic non-specific multisutural craniosynostosis / Isolated non-specific multisutural craniosynostosis / Non-syndromic non-specific multiple suture synostosis", "ORPHA:620139": "Non-syndromic unifrontosphenoidal craniosynostosis / Isolated unifrontosphenoidal craniosynostosis / Isolated unilateral sphenofrontal suture synostosis / Non-syndromic unilateral frontosphenoidal suture synostosis", "ORPHA:620146": "Non-syndromic unisquamosal craniosynostosis / Isolated unisquamosal craniosynostosis / Non-syndromic unilateral squamosal suture synostosis", "ORPHA:620102": "Non-syndromic unicoronal craniosynostosis / Isolated frontal plagiocephaly / Isolated unicoronal craniosynostosis / Non-syndromic anterior synostotic plagiocephaly / Non-syndromic frontoparietal craniosynostosis / Non-syndromic hemicoronal craniosynostosis / Non-syndromic unilateral coronal synostosis", "ORPHA:620113": "Non-syndromic unilambdoid craniosynostosis / Isolated occipital plagiocephaly / Isolated unilamboid craniosynostosis / Non-syndromic posterior synostotic plagiocephaly / Non-syndromic unilateral lambdoid synostosis", "ORPHA:620096": "Non-syndromic unisutural craniosynostosis / Isolated unisutural craniosynostosis / Non-syndromic single suture synostosis", "ORPHA:624268": "Non-specific autoimmune cerebellar ataxia without characteristic antibodies / Non-specific autoimmune CA without characteristic antibodies / PACA / Primary Autoimmune Cerebellar Ataxia", "ORPHA:624259": "Non-specific autoimmune cerebellar ataxia with characteristic antibodies / Non-specific autoimmune CA with characteristic antibodies", "ORPHA:624199": "Non-specific autoimmune brainstem encephalitis with characteristic antibodies / Non-specific autoimmune rhombencephalitis with characteristic antibodies / Non-specific autoimmune rhomboencephalitis with characteristic antibodies", "ORPHA:624190": "Paraneoplastic isolated brainstem encephalitis / Paraneoplastic isolated rhombencephalitis / Paraneoplastic isolated rhomboencephalitis", "ORPHA:624244": "Postinfectious cerebellitis / ACA / APCA / Acute cerebellar ataxia / Acute postinfectious cerebellar ataxia / PIC / Para-infectious cerebellitis", "ORPHA:624216": "Non-specific autoimmune brainstem encephalitis without characteristic antibodies / Non-specific autoimmune rhombencephalitis without characteristic antibodies / Non-specific autoimmune rhomboencephalitis without characteristic antibodies", "ORPHA:623789": "Body integrity dysphoria / BID / BIID / Body integrity identity disorder", "ORPHA:623801": "Acute flaccid myelitis", "ORPHA:624166": "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies / Non-specific supratentorial AE with characteristic antibodies", "ORPHA:624178": "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies / Non-specific supratentorial AE without characteristic antibodies", "ORPHA:623615": "Autoimmune limbic encephalitis / ALE", "ORPHA:623638": "Immune-mediated cerebellar ataxia / Autoimmune cerebellitis / IMCA", "ORPHA:623695": "MIR140-related spondyloepiphyseal dysplasia / MIR140-related SED / Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses", "ORPHA:622925": "X-linked severe syndromic thoracic aortic aneurysm and dissection / Meester-Loeys syndrome / X-linked severe syndromic TAAD", "ORPHA:622934": "SBDS-related severe neonatal spondylometaphyseal dysplasia / SBDS-related severe neonatal SMD / Spondylometaphyseal dysplasia, Sedaghatian-like type", "ORPHA:622014": "Autoimmune encephalitis / AE / AIE", "ORPHA:622099": "Superior mesenteric artery syndrome / SMAS / Wilkie syndrome", "ORPHA:622720": "Genetic autoinflammatory syndrome with skin involvement", "ORPHA:622914": "Rare genetic nevus", "ORPHA:618899": "Acid sphingomyelinase deficiency / ASMD", "ORPHA:618891": "Chronic neurovisceral acid sphingomyelinase deficiency / Chronic neurovisceral ASMD / NPD-A/B / Niemann-Pick disease type A/B", "ORPHA:617910": "Conjunctival malignant melanoma / Conjunctival melanoma", "ORPHA:617916": "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia", "ORPHA:617919": "F12-associated cold autoinflammatory syndrome / FACAS", "ORPHA:617930": "Hemophilia B Leyden / F9 deficiency, Leyden type / Factor IX deficiency, Leyden type", "ORPHA:619941": "Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency / Congenital neutropenia-CID due to MKL1 deficiency / Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency / MKL1-related neutrophil motility defect", "ORPHA:619367": "SAMD9L-associated autoinflammatory syndrome / SAMD9L-SAAD", "ORPHA:619953": "Familial hyperinflammatory lymphoproliferative immunodeficiency / HEM1 deficiency syndrome / NCKAP1L-associated hyperinflammatory disorder", "ORPHA:619948": "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency / Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency / SOCS1-related autoinflammatory syndrome", "ORPHA:619979": "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome", "ORPHA:619972": "CADINS disease / CARD11-associated atopy with dominant interference of NF-kB signaling syndrome", "ORPHA:619249": "Rare hereditary connective tissue disease", "ORPHA:619284": "Narcolepsy / Narcolepsy with or without cataplexy", "ORPHA:619340": "Inherited hematologic cancer-predisposing syndrome", "ORPHA:619363": "NOCARH syndrome / Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome / Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome", "ORPHA:619360": "NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin", "ORPHA:619233": "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome / Dias-Logan syndrome", "ORPHA:619238": "Rare hereditary autoinflammatory disease", "MONDO:0000001": "disease", "MONDO:0000023": "infantile liver failure", "MONDO:0000044": "hereditary hypophosphatemic rickets", "MONDO:0000050": "isolated congenital growth hormone deficiency", "MONDO:0000087": "polymicrogyria", "MONDO:0000088": "precocious puberty", "MONDO:0000107": "auriculocondylar syndrome", "MONDO:0000110": "bifid nose", "MONDO:0000127": "geleophysic dysplasia", "MONDO:0000133": "immunodeficiency-centromeric instability-facial anomalies syndrome", "MONDO:0000136": "keratosis follicularis spinulosa decalvans", "MONDO:0000141": "mosaic variegated aneuploidy syndrome", "MONDO:0000153": "transposition of the great arteries", "MONDO:0000170": "microphthalmia, isolated, with coloboma", "MONDO:0000171": "muscular dystrophy-dystroglycanopathy, type A", "MONDO:0000179": "Neu-Laxova syndrome", "MONDO:0000193": "cortisone reductase deficiency", "MONDO:0000200": "Zimmermann-Laband syndrome", "MONDO:0000209": "prenatal-onset spinal muscular atrophy with congenital bone fractures", "MONDO:0000211": "striatal degeneration, autosomal dominant", "MONDO:0000212": "hypercalcemia, infantile", "MONDO:0000229": "Indian tick typhus", "MONDO:0000330": "endemic typhus", "MONDO:0000355": "Ullrich congenital muscular dystrophy", "MONDO:0000437": "cerebellar ataxia", "MONDO:0000447": "congenital polycystic liver disease", "MONDO:0000453": "short QT syndrome", "MONDO:0000455": "cone dystrophy", "MONDO:0000456": "cerebral creatine deficiency syndrome", "MONDO:0000463": "Ochoa syndrome", "MONDO:0000476": "generalized dystonia", "MONDO:0000481": "cervical dystonia", "MONDO:0000485": "spasmodic dystonia", "MONDO:0000499": "non-arteritic anterior ischemic optic neuropathy", "MONDO:0000507": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "MONDO:0000565": "infective endocarditis", "MONDO:0000645": "fallopian tube benign neoplasm", "MONDO:0000688": "inherited organic acidemia", "MONDO:0000698": "gamma-amino butyric acid metabolism disorder", "MONDO:0000702": "microscopic colitis", "MONDO:0000703": "collagenous colitis", "MONDO:0000704": "lymphocytic colitis", "MONDO:0000724": "specific language impairment", "MONDO:0000733": "cornea plana", "MONDO:0000736": "dyschromatosis universalis hereditaria", "MONDO:0000754": "anal fistula (disease)", "MONDO:0000816": "abdominal obesity-metabolic syndrome", "MONDO:0000820": "cerebral cavernous malformation", "MONDO:0000827": "salmonellosis", "MONDO:0000845": "fibrous dysplasia", "MONDO:0000859": "spina bifida occulta (disease)", "MONDO:0000863": "myopathy, lactic acidosis, and sideroblastic anemia", "MONDO:0000902": "agenesis of the corpus callosum with peripheral neuropathy", "MONDO:0000903": "myoclonus-dystonia syndrome", "MONDO:0000914": "CADASIL 1", "MONDO:0000995": "familial periodic paralysis", "MONDO:0001029": "Klippel-Feil syndrome", "MONDO:0001032": "Mooren ulcer", "MONDO:0001071": "intellectual disability", "MONDO:0001134": "essential hypertension", "MONDO:0001147": "meningocele (disease)", "MONDO:0001153": "gender dysphoria", "MONDO:0001187": "urinary bladder cancer", "MONDO:0001195": "spotted fever", "MONDO:0001246": "typhus", "MONDO:0001280": "choroiditis", "MONDO:0001309": "oculomotor nerve paralysis", "MONDO:0001325": "penile cancer", "MONDO:0001341": "selective IgA deficiency disease", "MONDO:0001347": "facioscapulohumeral muscular dystrophy", "MONDO:0001444": "Chagas disease", "MONDO:0001476": "coloboma", "MONDO:0001549": "hemolytic-uremic syndrome", "MONDO:0001569": "acoustic neuroma", "MONDO:0001586": "mucopolysaccharidosis type 1", "MONDO:0001595": "choreatic disease", "MONDO:0001633": "central retinal artery occlusion", "MONDO:0001676": "erythropoietic protoporphyria", "MONDO:0001703": "color vision disorder", "MONDO:0001713": "inherited aplastic anemia", "MONDO:0001734": "tuberous sclerosis", "MONDO:0001790": "spinal cord lipoma", "MONDO:0001807": "familial combined hyperlipidemia", "MONDO:0001881": "toxic shock syndrome", "MONDO:0001945": "postencephalitic Parkinson disease", "MONDO:0001956": "capillary leak syndrome", "MONDO:0001971": "farmer's lung disease", "MONDO:0002010": "FG syndrome", "MONDO:0002013": "lymphangioma", "MONDO:0002070": "ventricular septal defect (disease)", "MONDO:0002095": "vascular cancer", "MONDO:0002096": "malignant conjunctival melanoma", "MONDO:0002142": "undifferentiated pleomorphic sarcoma", "MONDO:0002145": "sex differentiation disease", "MONDO:0002158": "fallopian tube cancer", "MONDO:0002235": "eyelid neoplasm", "MONDO:0002303": "central retinal vein occlusion", "MONDO:0002305": "thrombophilia", "MONDO:0002412": "glycogen storage disease", "MONDO:0002413": "glycogen storage disease I", "MONDO:0002422": "adamantinoma", "MONDO:0002429": "idiopathic interstitial pneumonia", "MONDO:0002441": "Jervell-Lange Nielsen syndrome", "MONDO:0002457": "Treacher-Collins syndrome", "MONDO:0002470": "photosensitive trichothiodystrophy", "MONDO:0002474": "primary hyperoxaluria", "MONDO:0002520": "acute hepatic porphyria", "MONDO:0002525": "inherited lipid metabolism disorder", "MONDO:0002546": "schwannoma", "MONDO:0002561": "lysosomal storage disease", "MONDO:0002571": "primary central nervous system lymphoma", "MONDO:0002588": "thymoma type A", "MONDO:0002629": "bone osteosarcoma", "MONDO:0002644": "idiopathic granulomatous myositis", "MONDO:0002653": "Paget disease of the penis", "MONDO:0002684": "atypical choroid plexus papilloma", "MONDO:0002687": "superior mesenteric artery syndrome", "MONDO:0002697": "ovarian gonadoblastoma (disease)", "MONDO:0002718": "central nervous system teratoma", "MONDO:0002728": "rhabdoid tumor", "MONDO:0002735": "anal canal adenocarcinoma (disease)", "MONDO:0002752": "ovarian adenocarcinoma", "MONDO:0002876": "cervical adenosarcoma", "MONDO:0002877": "cervical carcinosarcoma", "MONDO:0002878": "uterine corpus adenosarcoma", "MONDO:0002882": "colon neuroendocrine neoplasm", "MONDO:0002955": "vulva basal cell carcinoma", "MONDO:0003010": "multilocular clear cell renal cell carcinoma", "MONDO:0003011": "mucinous tubular and spindle renal cell carcinoma", "MONDO:0003111": "gastric neuroendocrine neoplasm", "MONDO:0003125": "testicular sex cord-stromal neoplasm", "MONDO:0003144": "medulloepithelioma", "MONDO:0003198": "small intestine adenocarcinoma", "MONDO:0003233": "essential tremor", "MONDO:0003258": "hobnail hemangioma", "MONDO:0003266": "ependymal tumor", "MONDO:0003345": "hilar cholangiocarcinoma", "MONDO:0003360": "small intestine leiomyosarcoma", "MONDO:0003414": "skin pilomatrix carcinoma", "MONDO:0003429": "functioning pituitary gland adenoma", "MONDO:0003582": "hereditary breast ovarian cancer syndrome", "MONDO:0003630": "pancreatic serous cystadenocarcinoma", "MONDO:0003646": "rectum neuroendocrine neoplasm", "MONDO:0003649": "esophageal neuroendocrine tumor", "MONDO:0003669": "testicular seminoma", "MONDO:0003778": "primary immunodeficiency disease", "MONDO:0003789": "hereditary papillary renal cell carcinoma", "MONDO:0003792": "ovarian carcinosarcoma", "MONDO:0003795": "ovarian small cell carcinoma", "MONDO:0003832": "complement deficiency", "MONDO:0003924": "adrenal cortex adenoma", "MONDO:0003999": "juvenile pilocytic astrocytoma", "MONDO:0004069": "inborn mitochondrial metabolism disorder", "MONDO:0004114": "urinary bladder small cell neuroendocrine carcinoma", "MONDO:0004132": "anal canal squamous cell carcinoma", "MONDO:0004150": "breast giant fibroadenoma", "MONDO:0004187": "nodular fasciitis", "MONDO:0004216": "pineal region germinoma", "MONDO:0004234": "chronic lymphoproliferative disorder of NK-cells", "MONDO:0004241": "Osgood-Schlatter disease", "MONDO:0004277": "gonorrhea", "MONDO:0004285": "pancreatic intraductal papillary-mucinous carcinoma", "MONDO:0004334": "non-functional pancreatic neuroendocrine tumor", "MONDO:0004351": "intraocular lymphoma", "MONDO:0004380": "dendritic cell sarcoma", "MONDO:0004542": "cervical adenosquamous carcinoma, glassy cell variant", "MONDO:0004604": "Hodgkin's lymphoma, lymphocytic-histiocytic predominance", "MONDO:0004620": "Hodgkin's lymphoma, lymphocytic depletion", "MONDO:0004633": "Hodgkin's lymphoma, mixed cellularity", "MONDO:0004653": "atypical chronic myeloid leukemia, BCR-ABL1 negative", "MONDO:0004665": "nodular sclerosis classical Hodgkin lymphoma", "MONDO:0004672": "fasciolopsiasis", "MONDO:0004684": "plantar fibromatosis", "MONDO:0004691": "autosomal dominant polycystic kidney disease", "MONDO:0004739": "urea cycle disorder", "MONDO:0004745": "priapism", "MONDO:0004772": "glaucomatocyclitic crisis", "MONDO:0004907": "alopecia", "MONDO:0004933": "hypoplastic left heart syndrome", "MONDO:0004948": "B-cell chronic lymphocytic leukemia", "MONDO:0004952": "Hodgkins lymphoma", "MONDO:0004958": "oral cavity squamous cell carcinoma", "MONDO:0004959": "plasma cell neoplasm", "MONDO:0004967": "acute lymphoblastic leukemia (disease)", "MONDO:0004975": "Alzheimer disease", "MONDO:0004976": "amyotrophic lateral sclerosis", "MONDO:0004977": "angioimmunoblastic T-cell lymphoma", "MONDO:0004994": "cardiomyopathy", "MONDO:0005005": "clear cell renal carcinoma", "MONDO:0005006": "clear cell sarcoma of kidney", "MONDO:0005011": "Crohn disease", "MONDO:0005021": "dilated cardiomyopathy", "MONDO:0005028": "esophageal adenocarcinoma", "MONDO:0005029": "essential thrombocythemia", "MONDO:0005033": "ganglioneuroma (disease)", "MONDO:0005035": "ganglioneuroblastoma (disease)", "MONDO:0005036": "gastric adenocarcinoma", "MONDO:0005045": "hypertrophic cardiomyopathy", "MONDO:0005048": "pancreatic insulin-producing neuroendocrine tumor", "MONDO:0005055": "Kaposi's sarcoma (disease)", "MONDO:0005058": "leiomyosarcoma", "MONDO:0005060": "liposarcoma", "MONDO:0005061": "lung adenocarcinoma", "MONDO:0005062": "lymphoma", "MONDO:0005072": "neuroblastoma", "MONDO:0005077": "pertussis", "MONDO:0005081": "preeclampsia", "MONDO:0005086": "renal cell carcinoma (disease)", "MONDO:0005090": "schizophrenia (disease)", "MONDO:0005091": "severe acute respiratory syndrome", "MONDO:0005100": "systemic sclerosis", "MONDO:0005101": "ulcerative colitis (disease)", "MONDO:0005103": "well-differentiated liposarcoma", "MONDO:0005105": "melanoma (disease)", "MONDO:0005115": "temporal lobe epilepsy", "MONDO:0005116": "Whipple disease", "MONDO:0005124": "leprosy", "MONDO:0005130": "celiac disease", "MONDO:0005136": "malaria", "MONDO:0005147": "type 1 diabetes mellitus", "MONDO:0005150": "age-related macular degeneration", "MONDO:0005153": "cervical adenocarcinoma", "MONDO:0005164": "fibrosarcoma (disease)", "MONDO:0005180": "Parkinson disease", "MONDO:0005181": "progressive external ophthalmoplegia", "MONDO:0005197": "thymus neoplasm", "MONDO:0005198": "vulvar intraepithelial neoplasia", "MONDO:0005201": "restrictive cardiomyopathy", "MONDO:0005210": "uterine corpus sarcoma", "MONDO:0005212": "rhabdomyosarcoma (disease)", "MONDO:0005215": "vulvar carcinoma", "MONDO:0005220": "collecting duct carcinoma", "MONDO:0005223": "acute myeloid leukemia with minimal differentiation", "MONDO:0005224": "acute myeloblastic leukemia without maturation", "MONDO:0005233": "non-small cell lung carcinoma (disease)", "MONDO:0005258": "autism spectrum disorder", "MONDO:0005259": "Asperger syndrome", "MONDO:0005272": "refractory anemia", "MONDO:0005301": "multiple sclerosis", "MONDO:0005306": "ankylosing spondylitis", "MONDO:0005308": "ciliopathy", "MONDO:0005312": "pouchitis", "MONDO:0005313": "necrotizing enterocolitis", "MONDO:0005321": "Fuchs' endothelial dystrophy", "MONDO:0005342": "IgA glomerulonephritis", "MONDO:0005345": "hypospadias (disease)", "MONDO:0005349": "otosclerosis (disease)", "MONDO:0005351": "anorexia nervosa", "MONDO:0005361": "eosinophilic esophagitis", "MONDO:0005380": "osteonecrosis", "MONDO:0005382": "bone Paget disease", "MONDO:0005387": "primary ovarian failure", "MONDO:0005388": "primary biliary cholangitis", "MONDO:0005404": "myalgic encephalomeyelitis/chronic fatigue syndrome", "MONDO:0005440": "embryonal carcinoma", "MONDO:0005459": "human African trypanosomiasis", "MONDO:0005486": "tooth agenesis", "MONDO:0005488": "adolescent idiopathic scoliosis", "MONDO:0005498": "botulism", "MONDO:0005502": "dengue disease", "MONDO:0005504": "diphtheria", "MONDO:0005505": "dysembryoplastic neuroepithelial tumor", "MONDO:0005508": "hereditary multiple osteochondromas", "MONDO:0005512": "malignant peritoneal mesothelioma", "MONDO:0005514": "nanophthalmia", "MONDO:0005526": "tetanus", "MONDO:0005543": "autoimmune hepatitis type 1", "MONDO:0005546": "fibromyalgia", "MONDO:0005563": "nut midline carcinoma", "MONDO:0005570": "hematologic disease", "MONDO:0005571": "polycythemia (disease)", "MONDO:0005575": "colorectal cancer", "MONDO:0005580": "esophageal squamous cell carcinoma", "MONDO:0005595": "laryngeal squamous cell carcinoma", "MONDO:0005601": "ovarian mucinous adenocarcinoma", "MONDO:0005615": "plasmacytoma", "MONDO:0005619": "typhoid fever", "MONDO:0005620": "cerebral amyloid angiopathy", "MONDO:0005629": "Acanthamoeba keratitis", "MONDO:0005631": "actinomycosis", "MONDO:0005645": "ancylostomiasis", "MONDO:0005657": "aspergillosis", "MONDO:0005661": "babesiosis", "MONDO:0005662": "balantidiasis", "MONDO:0005665": "Bell's palsy", "MONDO:0005668": "bird fancier's lung", "MONDO:0005674": "bone giant cell tumor", "MONDO:0005680": "Brill-Zinsser disease", "MONDO:0005683": "brucellosis", "MONDO:0005692": "cat-scratch disease", "MONDO:0005696": "central nervous system tuberculosis", "MONDO:0005705": "clonorchiasis", "MONDO:0005706": "coccidioidomycosis", "MONDO:0005708": "Colorado tick fever", "MONDO:0005710": "composite lymphoma", "MONDO:0005711": "congenital diaphragmatic hernia", "MONDO:0005712": "congenital nystagmus", "MONDO:0005714": "congenital syphilis", "MONDO:0005715": "congenital toxoplasmosis", "MONDO:0005724": "cryptococcosis", "MONDO:0005725": "cyclosporiasis", "MONDO:0005736": "eastern equine encephalitis", "MONDO:0005737": "Ebola hemorrhagic fever", "MONDO:0005744": "yolk sac tumor", "MONDO:0005761": "filarial elephantiasis", "MONDO:0005764": "follicular dendritic cell sarcoma", "MONDO:0005769": "geniculate herpes zoster", "MONDO:0005773": "Gerstmann syndrome", "MONDO:0005774": "glanders", "MONDO:0005789": "hepatitis D infection", "MONDO:0005797": "HIV wasting syndrome", "MONDO:0005802": "hymenolepiasis", "MONDO:0005803": "hyperinsulinemic hypoglycemia (disease)", "MONDO:0005805": "hypodermyiasis", "MONDO:0005815": "pancreatic neuroendocrine neoplasm", "MONDO:0005817": "Kluver-Bucy syndrome", "MONDO:0005820": "Lassa fever", "MONDO:0005823": "legionellosis", "MONDO:0005825": "leptospirosis", "MONDO:0005828": "listeriosis", "MONDO:0005835": "Lynch syndrome", "MONDO:0005838": "mansonelliasis", "MONDO:0005846": "microsporidiosis", "MONDO:0005851": "Miller Fisher syndrome", "MONDO:0005854": "mixed connective tissue disease", "MONDO:0005888": "ornithosis", "MONDO:0005893": "pancreatic endocrine carcinoma", "MONDO:0005894": "paracoccidioidomycosis", "MONDO:0005895": "paragonimiasis", "MONDO:0005904": "pericarditis (disease)", "MONDO:0005916": "placenta accreta", "MONDO:0005919": "placental insufficiency", "MONDO:0005933": "pulmonary blastoma", "MONDO:0005942": "Reye syndrome", "MONDO:0005968": "sporotrichosis", "MONDO:0005969": "st. Louis encephalitis", "MONDO:0005974": "strongyloidiasis", "MONDO:0005979": "thoracic outlet syndrome", "MONDO:0005988": "toxocariasis", "MONDO:0005991": "trench fever", "MONDO:0006009": "viral encephalitis", "MONDO:0006015": "Waterhouse-Friderichsen syndrome", "MONDO:0006033": "diffuse intrinsic pontine glioma", "MONDO:0006037": "hydrolethalus syndrome", "MONDO:0006042": "meningeal tuberculosis", "MONDO:0006043": "metaplastic breast carcinoma", "MONDO:0006045": "ovarian clear cell adenocarcinoma", "MONDO:0006065": "lactose intolerance adult type", "MONDO:0006079": "ameloblastic carcinoma", "MONDO:0006131": "cerebellar liponeurocytoma", "MONDO:0006132": "cervical adenoid basal carcinoma", "MONDO:0006133": "cervical adenoid cystic carcinoma", "MONDO:0006143": "cervical squamous cell carcinoma", "MONDO:0006183": "disseminated peritoneal leiomyomatosis", "MONDO:0006210": "fibrolamellar hepatocellular carcinoma", "MONDO:0006230": "gastric squamous cell carcinoma", "MONDO:0006238": "growth hormone-producing pituitary gland adenoma", "MONDO:0006247": "histiocytic and dendritic cell neoplasm", "MONDO:0006248": "hydatidiform mole", "MONDO:0006260": "kidney medullary carcinoma", "MONDO:0006277": "lung lymphangioleiomyomatosis", "MONDO:0006292": "malignant mesothelioma (disease)", "MONDO:0006335": "ovarian endometrioid adenocarcinoma", "MONDO:0006339": "ovarian microcystic stromal tumor", "MONDO:0006346": "pancreatic acinar cell carcinoma", "MONDO:0006359": "neoplasm with perivascular epithelioid cell differentiation", "MONDO:0006363": "peritoneal multicystic mesothelioma", "MONDO:0006369": "pineal parenchymal tumor of intermediate differentiation", "MONDO:0006372": "pituicytoma", "MONDO:0006373": "pituitary gland adenoma", "MONDO:0006383": "primary cutaneous diffuse large B-cell lymphoma, Leg type", "MONDO:0006412": "sinus histiocytosis with massive lymphadenopathy", "MONDO:0006447": "testicular non-seminomatous germ cell tumor", "MONDO:0006451": "thymic carcinoma", "MONDO:0006456": "thymoma (disease)", "MONDO:0006460": "thyroglossal duct cyst", "MONDO:0006468": "thyroid gland undifferentiated (anaplastic) carcinoma", "MONDO:0006479": "undifferentiated pancreatic carcinoma with osteoclast-like giant cells", "MONDO:0006486": "uveal melanoma", "MONDO:0006543": "epidermolysis bullosa dystrophica", "MONDO:0006558": "pemphigoid gestationis", "MONDO:0006559": "hidradenitis suppurativa", "MONDO:0006583": "necrobiosis lipoidica", "MONDO:0006602": "porokeratosis (disease)", "MONDO:0006606": "scleredema adultorum", "MONDO:0006614": "subcorneal pustular dermatosis", "MONDO:0006639": "adrenal cortex carcinoma", "MONDO:0006651": "anterior uveitis (disease)", "MONDO:0006663": "asphyxia neonatorum", "MONDO:0006664": "atrial heart septal defect", "MONDO:0006687": "burning mouth syndrome", "MONDO:0006702": "chronic inflammatory demyelinating polyradiculoneuropathy", "MONDO:0006745": "endometrioid stromal sarcoma", "MONDO:0006761": "fibromuscular dysplasia", "MONDO:0006802": "inappropriate ADH syndrome", "MONDO:0006806": "intermediate uveitis (disease)", "MONDO:0006825": "kuru", "MONDO:0006851": "meconium aspiration syndrome", "MONDO:0006861": "myeloid sarcoma", "MONDO:0006908": "pituitary apoplexy", "MONDO:0006913": "pneumococcal meningitis", "MONDO:0006941": "rat-bite fever", "MONDO:0006952": "retinopathy of prematurity", "MONDO:0006956": "Rickettsiosis", "MONDO:0006976": "somatostatinoma", "MONDO:0007001": "tricuspid valve prolapse (disease)", "MONDO:0007012": "variant Creutzfeldt-Jakob disease", "MONDO:0007020": "Wernicke encephalopathy", "MONDO:0007029": "branchio-oto-renal syndrome", "MONDO:0007031": "familial abdominal aortic aneurysm", "MONDO:0007032": "prune belly syndrome", "MONDO:0007034": "Adams-Oliver syndrome", "MONDO:0007035": "acanthosis nigricans (disease)", "MONDO:0007037": "achondroplasia", "MONDO:0007039": "neurofibromatosis type 2", "MONDO:0007040": "Sakati-Nyhan syndrome", "MONDO:0007041": "apert syndrome", "MONDO:0007042": "Saethre-Chotzen syndrome", "MONDO:0007043": "Pfeiffer syndrome", "MONDO:0007045": "acrofacial dysostosis, Catania type", "MONDO:0007047": "punctate palmoplantar keratoderma type III", "MONDO:0007048": "acrokeratosis verruciformis", "MONDO:0007050": "acromegaloid changes, cutis verticis gyrata, and corneal leukoma", "MONDO:0007051": "acromegaloid facial appearance syndrome", "MONDO:0007055": "acromicric dysplasia", "MONDO:0007057": "acroosteolysis dominant type", "MONDO:0007058": "acropectorovertebral dysplasia", "MONDO:0007059": "acrorenal syndrome", "MONDO:0007062": "congenital absence/hypoplasia of fingers excluding thumb, unilateral", "MONDO:0007064": "adenosine deaminase deficiency", "MONDO:0007066": "adenosine triphosphatase deficiency, anemia due to", "MONDO:0007068": "adenylosuccinate lyase deficiency", "MONDO:0007070": "adiposis dolorosa", "MONDO:0007072": "ADULT syndrome", "MONDO:0007073": "hypoglossia-hypodactyly syndrome", "MONDO:0007077": "Tietz syndrome", "MONDO:0007078": "pseudohypoparathyroidism type 1A", "MONDO:0007080": "glucocorticoid-remediable aldosteronism", "MONDO:0007083": "autosomal dominant palmoplantar keratoderma and congenital alopecia", "MONDO:0007085": "alopecia-epilepsy-pyorrhea-intellectual disability syndrome", "MONDO:0007086": "autosomal dominant Alport syndrome", "MONDO:0007093": "hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism", "MONDO:0007095": "ameloonychohypohidrotic syndrome", "MONDO:0007097": "Finnish type amyloidosis", "MONDO:0007098": "ACys amyloidosis", "MONDO:0007099": "familial visceral amyloidosis", "MONDO:0007100": "familial amyloid neuropathy", "MONDO:0007101": "familial primary localized cutaneous amyloidosis", "MONDO:0007104": "amyotrophic lateral sclerosis-parkinsonism-dementia complex", "MONDO:0007108": "anal canal carcinoma", "MONDO:0007109": "congenital dyserythropoietic anemia type 3", "MONDO:0007112": "interventricular septum aneurysm", "MONDO:0007113": "Angelman syndrome", "MONDO:0007114": "angel-shaped phalango-epiphyseal dysplasia", "MONDO:0007116": "hereditary neurocutaneous malformation", "MONDO:0007118": "isolated anhidrosis with normal sweat glands", "MONDO:0007119": "isolated aniridia", "MONDO:0007120": "aniridia-absent patella syndrome", "MONDO:0007123": "ankyloblepharon filiforme adnatum-cleft palate syndrome", "MONDO:0007124": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "MONDO:0007127": "diffuse idiopathic skeletal hyperostosis", "MONDO:0007130": "congenital total pulmonary venous return anomaly", "MONDO:0007131": "anonychia with flexural pigmentation", "MONDO:0007133": "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly", "MONDO:0007134": "Cooks syndrome", "MONDO:0007137": "isolated congenital anosmia", "MONDO:0007142": "Townes-Brocks syndrome", "MONDO:0007143": "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome", "MONDO:0007145": "aplasia cutis congenita (disease)", "MONDO:0007154": "arteriovenous malformations of the brain", "MONDO:0007158": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome", "MONDO:0007159": "arthrogryposis-like hand anomaly-sensorineural deafness syndrome", "MONDO:0007160": "Stickler syndrome type 1", "MONDO:0007163": "episodic ataxia type 2", "MONDO:0007164": "spastic ataxia 1", "MONDO:0007165": "spastic ataxia 7", "MONDO:0007167": "atelosteogenesis type I", "MONDO:0007168": "atelosteogenesis type III", "MONDO:0007173": "atrial heart septal defect 7", "MONDO:0007174": "Lown-Ganong-Levine syndrome", "MONDO:0007176": "helicoid peripapillary chorioretinal degeneration", "MONDO:0007177": "auriculoosteodysplasia", "MONDO:0007178": "aurocephalosyndactyly", "MONDO:0007180": "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities", "MONDO:0007182": "Machado-Joseph disease", "MONDO:0007185": "Banki syndrome", "MONDO:0007187": "nevoid basal cell carcinoma syndrome", "MONDO:0007188": "primary basilar invagination", "MONDO:0007191": "Behcet disease", "MONDO:0007194": "familial bicuspid aortic valve", "MONDO:0007198": "Ascher syndrome", "MONDO:0007200": "blepharonasofacial malformation syndrome", "MONDO:0007201": "blepharophimosis, ptosis, and epicanthus inversus syndrome", "MONDO:0007202": "blepharoptosis-myopia-ectopia lentis syndrome", "MONDO:0007203": "blue rubber bleb nevus", "MONDO:0007205": "diaphyseal medullary stenosis-bone malignancy syndrome", "MONDO:0007207": "Book syndrome", "MONDO:0007208": "Boomerang dysplasia", "MONDO:0007209": "Weismann-Netter syndrome", "MONDO:0007211": "brachydactyly-arterial hypertension syndrome", "MONDO:0007212": "brachydactyly-long thumb syndrome", "MONDO:0007213": "Ballard syndrome", "MONDO:0007214": "brachydactyly-preaxial hallux varus syndrome", "MONDO:0007215": "brachydactyly type A1", "MONDO:0007216": "brachydactyly type A2", "MONDO:0007217": "brachydactyly type A3", "MONDO:0007218": "brachydactyly type A4", "MONDO:0007219": "brachydactyly type A6", "MONDO:0007220": "brachydactyly type B1", "MONDO:0007221": "brachydactyly type C", "MONDO:0007222": "brachydactyly type D", "MONDO:0007225": "fibular aplasia-ectrodactyly syndrome", "MONDO:0007226": "brachydactyly-nystagmus-cerebellar ataxia syndrome", "MONDO:0007227": "Sillence syndrome", "MONDO:0007230": "Brachymorphism-onychodysplasia-dysphalangism syndrome", "MONDO:0007231": "brachytelephalangy-dysmorphism-Kallmann syndrome", "MONDO:0007232": "autosomal dominant brachyolmia", "MONDO:0007233": "second branchial cleft anomaly", "MONDO:0007235": "branchiooculofacial syndrome", "MONDO:0007237": "familial juvenile hypertrophy of the breast", "MONDO:0007243": "Burkitt lymphoma", "MONDO:0007244": "Caffey disease", "MONDO:0007245": "neurofibromatosis type 6", "MONDO:0007248": "hereditary painful callosities", "MONDO:0007249": "camptobrachydactyly", "MONDO:0007250": "camptodactyly of fingers", "MONDO:0007251": "campomelic dysplasia", "MONDO:0007252": "Gordon syndrome", "MONDO:0007256": "hepatocellular carcinoma", "MONDO:0007259": "craniofaciofrontodigital syndrome", "MONDO:0007269": "dilated cardiomyopathy 1A", "MONDO:0007271": "familial cutaneous collagenoma", "MONDO:0007272": "hereditary hypercarotenemia and vitamin A deficiency", "MONDO:0007275": "carpal tunnel syndrome", "MONDO:0007276": "cat-eye syndrome", "MONDO:0007277": "cataract-aberrant oral frenula-growth delay syndrome", "MONDO:0007280": "cataract 8 multiple types", "MONDO:0007293": "leukocyte adhesion deficiency 1", "MONDO:0007294": "central core myopathy", "MONDO:0007295": "rolandic epilepsy", "MONDO:0007296": "spinocerebellar ataxia type 31", "MONDO:0007297": "ADan amyloidosis", "MONDO:0007298": "spinocerebellar ataxia type 29", "MONDO:0007301": "cerebrocostomandibular syndrome", "MONDO:0007307": "Charcot-Marie-Tooth disease type 1B", "MONDO:0007308": "Charcot-Marie-Tooth disease type 2A1", "MONDO:0007309": "Charcot-Marie-Tooth disease type 1A", "MONDO:0007311": "Charcot-Marie-Tooth disease type 1E", "MONDO:0007313": "cheilitis glandularis", "MONDO:0007315": "cherubism", "MONDO:0007316": "Chiari malformation type I", "MONDO:0007318": "Alagille syndrome", "MONDO:0007319": "familial calcium pyrophosphate deposition", "MONDO:0007321": "autosomal dominant chondrodysplasia punctata", "MONDO:0007322": "chondrodysplasia punctata, tibial-metacarpal type", "MONDO:0007330": "congenital pseudoarthrosis of clavicle", "MONDO:0007334": "autosomal dominant popliteal pterygium syndrome", "MONDO:0007337": "cleft palate-lateral synechia syndrome", "MONDO:0007338": "cleft soft palate", "MONDO:0007339": "blepharo-cheilo-odontic syndrome", "MONDO:0007340": "cleidocranial dysplasia", "MONDO:0007341": "cleidorhizomelic syndrome", "MONDO:0007343": "isolated congenital digital clubbing", "MONDO:0007345": "aorta coarctation", "MONDO:0007346": "cochleosaccular degeneration-cataract syndrome", "MONDO:0007351": "coloboma of macula", "MONDO:0007352": "renal coloboma syndrome", "MONDO:0007353": "coloboma of macula-brachydactyly type B syndrome", "MONDO:0007354": "coloboma of optic nerve (disease)", "MONDO:0007355": "uveal coloboma-cleft lip and palate-intellectual disability", "MONDO:0007361": "C1 inhibitor deficiency", "MONDO:0007363": "congenital contractural arachnodactyly", "MONDO:0007368": "familial benign copper deficiency", "MONDO:0007369": "hereditary coproporphyria", "MONDO:0007374": "Schnyder corneal dystrophy", "MONDO:0007375": "epithelial basement membrane dystrophy", "MONDO:0007376": "fleck corneal dystrophy", "MONDO:0007377": "granular corneal dystrophy type I", "MONDO:0007379": "Meesmann corneal dystrophy", "MONDO:0007380": "lattice corneal dystrophy type I", "MONDO:0007381": "epithelial recurrent erosion dystrophy", "MONDO:0007382": "Ramos-Arroyo syndrome", "MONDO:0007383": "Stern-Lubinsky-Durrie syndrome", "MONDO:0007384": "congenital trigeminal anesthesia", "MONDO:0007385": "idiopathic spontaneous coronary artery dissection", "MONDO:0007388": "congenitally short costocoracoid ligament", "MONDO:0007392": "coxoauricular syndrome", "MONDO:0007393": "cranioacrofacial syndrome", "MONDO:0007395": "craniofacial-deafness-hand syndrome", "MONDO:0007396": "dysostosis, Stanescu type", "MONDO:0007398": "craniorhiny", "MONDO:0007400": "Jackson-Weiss syndrome", "MONDO:0007401": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome", "MONDO:0007403": "inherited Creutzfeldt-Jakob disease", "MONDO:0007404": "Cri-du-chat syndrome", "MONDO:0007405": "Crouzon syndrome", "MONDO:0007407": "Cryoglobulinemic vasculitis", "MONDO:0007409": "cryptomicrotia-brachydactyly-excess fingertip arch syndrome", "MONDO:0007410": "isolated cryptophthalmia", "MONDO:0007412": "Beare-Stevenson cutis gyrata syndrome", "MONDO:0007413": "Cyprus facial-neuromusculoskeletal syndrome", "MONDO:0007414": "Gorham-Stout disease", "MONDO:0007417": "Darier disease", "MONDO:0007420": "autosomal dominant deafness - onychodystrophy syndrome", "MONDO:0007421": "deafness-ear malformation-facial palsy syndrome", "MONDO:0007422": "keratoderma hereditarium mutilans", "MONDO:0007428": "deafness-craniofacial syndrome", "MONDO:0007434": "primary failure of tooth eruption", "MONDO:0007435": "dentatorubral-pallidoluysian atrophy", "MONDO:0007436": "dentin dysplasia type I", "MONDO:0007437": "dentin dysplasia type II", "MONDO:0007438": "dentin dysplasia-sclerotic bones syndrome", "MONDO:0007441": "dentinogenesis imperfecta type 2", "MONDO:0007442": "dentinogenesis imperfecta type 3", "MONDO:0007443": "congenital unilateral hypoplasia of depressor anguli oris", "MONDO:0007445": "dermatopathia pigmentosa reticularis", "MONDO:0007447": "autosomal dominant vibratory urticaria", "MONDO:0007449": "dermo-odonto dysplasia", "MONDO:0007450": "neurohypophyseal diabetes insipidus", "MONDO:0007461": "short stature-valvular heart disease-characteristic facies syndrome", "MONDO:0007464": "isolated distichiasis", "MONDO:0007465": "distichiasis with congenital anomalies of the heart and peripheral vasculature", "MONDO:0007470": "calvarial doughnut lesions-bone fragility syndrome", "MONDO:0007471": "Doyne honeycomb retinal dystrophy", "MONDO:0007473": "Duane retraction syndrome", "MONDO:0007476": "familial Dupuytren contracture", "MONDO:0007477": "3-M syndrome", "MONDO:0007478": "autosomal dominant Kenny-Caffey syndrome", "MONDO:0007480": "dwarfism with stiff joints and ocular abnormalities", "MONDO:0007481": "Leri-Weill dyschondrosteosis", "MONDO:0007482": "dyschondrosteosis-nephritis syndrome", "MONDO:0007483": "dyschromatosis symmetrica hereditaria", "MONDO:0007486": "hereditary benign intraepithelial dyskeratosis", "MONDO:0007488": "Lewy body dementia", "MONDO:0007489": "dysplasia epiphysealis hemimelica", "MONDO:0007490": "carpotarsal osteochondromatosis", "MONDO:0007492": "early-onset generalized limb-onset dystonia", "MONDO:0007493": "torsion dystonia 4", "MONDO:0007496": "dystonia 12", "MONDO:0007504": "thickened earlobes-conductive deafness syndrome", "MONDO:0007507": "absence of fingerprints-congenital milia syndrome", "MONDO:0007508": "Rapp-Hodgkin syndrome", "MONDO:0007510": "Clouston syndrome", "MONDO:0007511": "ectodermal dysplasia, trichoodontoonychial type", "MONDO:0007513": "ectodermal dysplasia with adrenal cyst", "MONDO:0007516": "ectrodactyly and ectodermal dysplasia without cleft lip/palate", "MONDO:0007517": "ectrodactyly-cleft palate syndrome", "MONDO:0007519": "Edinburgh malformation syndrome", "MONDO:0007522": "Ehlers-Danlos syndrome, classic type", "MONDO:0007523": "Ehlers-Danlos syndrome, hypermobility type", "MONDO:0007525": "Ehlers-Danlos syndrome, arthrochalasis type", "MONDO:0007526": "Ehlers-Danlos syndrome progeroid type", "MONDO:0007527": "Ehlers-Danlos syndrome, periodontitis type", "MONDO:0007529": "elastosis perforans serpiginosa", "MONDO:0007534": "Beckwith-Wiedemann syndrome", "MONDO:0007536": "congenital lobar emphysema", "MONDO:0007537": "lateral meningocele syndrome", "MONDO:0007539": "encephalopathy, recurrent, of childhood", "MONDO:0007540": "multiple endocrine neoplasia type 1", "MONDO:0007542": "Camurati-Engelmann disease", "MONDO:0007548": "transient bullous dermolysis of the newborn", "MONDO:0007549": "generalized dominant dystrophic epidermolysis bullosa", "MONDO:0007550": "epidermolysis bullosa simplex Dowling-Meara type", "MONDO:0007551": "localized epidermolysis bullosa simplex", "MONDO:0007552": "pretibial dystrophic epidermolysis bullosa", "MONDO:0007554": "generalized epidermolysis bullosa simplex, non-Dowling-Meara type", "MONDO:0007555": "epidermolysis bullosa simplex Ogna type", "MONDO:0007556": "epidermolysis bullosa simplex with mottled pigmentation", "MONDO:0007558": "benign occipital epilepsy", "MONDO:0007560": "reading seizures", "MONDO:0007561": "multiple epiphyseal dysplasia type 1", "MONDO:0007562": "multiple epiphyseal dysplasia, Beighton type", "MONDO:0007564": "pilomatrixoma", "MONDO:0007565": "familial cylindromatosis", "MONDO:0007566": "multiple self-healing squamous epithelioma", "MONDO:0007570": "erythema palmare hereditarium", "MONDO:0007571": "primary erythermalgia", "MONDO:0007572": "primary familial polycythemia due to EPO receptor mutation", "MONDO:0007574": "spinocerebellar ataxia type 34", "MONDO:0007584": "exostoses-anetodermia-brachydactyly type E syndrome", "MONDO:0007587": "external auditory canal atresia-vertical talus-hypertelorism syndrome", "MONDO:0007588": "extrasystoles-short stature-hyperpigmentation-microcephaly syndrome", "MONDO:0007590": "hemifacial hypertrophy", "MONDO:0007592": "familial recurrent peripheral facial palsy", "MONDO:0007600": "primary Fanconi syndrome", "MONDO:0007603": "Felty syndrome", "MONDO:0007604": "femoral-facial syndrome", "MONDO:0007606": "fibrodysplasia ossificans progressiva", "MONDO:0007608": "desmoid tumor", "MONDO:0007610": "gingival fibromatosis-hypertrichosis syndrome", "MONDO:0007612": "gingival fibromatosis-progressive deafness syndrome", "MONDO:0007614": "congenital fibrosis of extraocular muscles", "MONDO:0007615": "laurin-Sandrow syndrome", "MONDO:0007618": "Eng-Strom syndrome", "MONDO:0007619": "isolated congenital adermatoglyphia", "MONDO:0007620": "fish eye disease", "MONDO:0007621": "floating-Harbor syndrome", "MONDO:0007624": "Flynn-Aird syndrome", "MONDO:0007626": "familial congenital palsy of trochlear nerve", "MONDO:0007627": "focal facial dermal dysplasia type I", "MONDO:0007630": "North Carolina macular dystrophy", "MONDO:0007635": "Frasier syndrome", "MONDO:0007636": "frontorhiny", "MONDO:0007639": "fundus albipunctatus", "MONDO:0007640": "Sorsby's fundus dystrophy", "MONDO:0007642": "isolated agenesis of gallbladder", "MONDO:0007646": "Gamstorp-Wohlfart syndrome", "MONDO:0007648": "hereditary diffuse gastric adenocarcinoma", "MONDO:0007650": "MALT lymphoma", "MONDO:0007651": "gastrocutaneous syndrome", "MONDO:0007652": "gastric mucosal hypertrophy", "MONDO:0007656": "Gerstmann-Straussler-Scheinker syndrome", "MONDO:0007660": "familial ossifying fibroma", "MONDO:0007661": "Tourette syndrome", "MONDO:0007666": "glaucoma-sleep apnea syndrome", "MONDO:0007667": "subependymoma", "MONDO:0007669": "renal cysts and diabetes syndrome", "MONDO:0007670": "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)", "MONDO:0007671": "fibronectin glomerulopathy", "MONDO:0007672": "glomuvenous malformation", "MONDO:0007679": "GMS syndrome", "MONDO:0007680": "multinodular goiter-cystic kidney-polydactyly syndrome", "MONDO:0007681": "familial multinodular goiter", "MONDO:0007683": "Grant syndrome", "MONDO:0007686": "gray platelet syndrome", "MONDO:0007688": "Myhre syndrome", "MONDO:0007690": "aromatase excess syndrome", "MONDO:0007693": "hypertrichosis cubiti-short stature syndrome", "MONDO:0007696": "Emery-Nelson syndrome", "MONDO:0007698": "hand-foot-genital syndrome", "MONDO:0007699": "Hashimoto thyroiditis", "MONDO:0007700": "hawkinsinuria", "MONDO:0007702": "heart-hand syndrome type 3", "MONDO:0007705": "Heinz body anemia", "MONDO:0007706": "cavernous hemangiomas of face-supraumbilical midline raphe syndrome", "MONDO:0007708": "Kasabach-Merritt syndrome", "MONDO:0007710": "facial hemiatrophy", "MONDO:0007711": "Bencze syndrome", "MONDO:0007712": "oculoauriculovertebral spectrum with radial defects", "MONDO:0007713": "clonic hemifacial spasm", "MONDO:0007716": "alpha thalassemia-intellectual disability syndrome type 1", "MONDO:0007724": "hirsutism-skeletal dysplasia-intellectual disability syndrome", "MONDO:0007725": "hereditary progressive mucinous histiocytosis", "MONDO:0007726": "hip dysplasia, Beukes type", "MONDO:0007727": "autosomal dominant familial periodic fever", "MONDO:0007732": "Holt-Oram syndrome", "MONDO:0007735": "congenital Horner syndrome (disease)", "MONDO:0007737": "humeroradial synostosis (disease)", "MONDO:0007738": "spondyloepiphyseal dysplasia with congenital joint dislocations", "MONDO:0007739": "Huntington disease", "MONDO:0007740": "Wagner disease", "MONDO:0007741": "congenital hydronephrosis", "MONDO:0007744": "cholesterol-ester transfer protein deficiency", "MONDO:0007745": "Gilbert syndrome", "MONDO:0007747": "Hyperchlorhidrosis, isolated", "MONDO:0007753": "Frey syndrome", "MONDO:0007756": "hyperkeratosis lenticularis perstans (disease)", "MONDO:0007757": "hyperkeratosis-hyperpigmentation syndrome", "MONDO:0007758": "epidermolytic palmoplantar keratoderma", "MONDO:0007761": "hyperlipoproteinemia type IV", "MONDO:0007762": "hyperlipoproteinemia type V", "MONDO:0007764": "autosomal dominant osteosclerosis, Worth type", "MONDO:0007765": "hyperostosis cranialis interna (disease)", "MONDO:0007766": "Morgagni-Stewart-Morel syndrome", "MONDO:0007768": "hyperparathyroidism-jaw tumor syndrome", "MONDO:0007772": "pseudohypoaldosteronism type 2A", "MONDO:0007779": "autosomal dominant Opitz G/BBB syndrome", "MONDO:0007784": "selective pituitary resistance to thyroid hormone", "MONDO:0007787": "Ambras type hypertrichosis universalis congenita", "MONDO:0007790": "Charcot-Marie-Tooth disease type 3", "MONDO:0007791": "familial hypocalciuric hypercalcemia 1", "MONDO:0007792": "familial hypocalciuric hypercalcemia 2", "MONDO:0007793": "hypochondroplasia", "MONDO:0007795": "mullerian duct anomalies-limb anomalies syndrome", "MONDO:0007797": "hypoparathyroidism-deafness-renal disease syndrome", "MONDO:0007798": "adult hypophosphatasia", "MONDO:0007800": "chromosome 18p deletion syndrome", "MONDO:0007803": "multiple system atrophy", "MONDO:0007804": "Pallister-hall syndrome", "MONDO:0007808": "ichthyosis hystrix of Curth-Macklin", "MONDO:0007809": "ichthyosis hystrix gravior", "MONDO:0007810": "autosomal dominant ichthyosis vulgaris", "MONDO:0007811": "ichthyosis-cheek-eyebrow syndrome", "MONDO:0007813": "ichthyosis bullosa of Siemens", "MONDO:0007818": "Hyper-IgE recurrent infection syndrome 1", "MONDO:0007819": "solitary median maxillary central incisor syndrome", "MONDO:0007820": "fused mandibular incisors", "MONDO:0007827": "inclusion body myositis", "MONDO:0007836": "IVIC syndrome", "MONDO:0007837": "Johnson neuroectodermal syndrome", "MONDO:0007838": "Jacobsen syndrome", "MONDO:0007839": "Aase-Smith syndrome", "MONDO:0007841": "coxopodopatellar syndrome", "MONDO:0007842": "Ehlers-Danlos syndrome type 11", "MONDO:0007846": "KBG syndrome", "MONDO:0007848": "autosomal dominant keratitis", "MONDO:0007849": "keratitis fugax hereditaria", "MONDO:0007852": "palmoplantar keratoderma-deafness syndrome", "MONDO:0007853": "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy", "MONDO:0007854": "keratolytic winter erythema", "MONDO:0007856": "palmoplantar keratoderma-esophageal carcinoma syndrome", "MONDO:0007857": "keratosis palmaris et plantaris-clinodactyly syndrome", "MONDO:0007860": "focal palmoplantar and gingival keratoderma", "MONDO:0007861": "isolated cloverleaf skull syndrome", "MONDO:0007862": "Waardenburg syndrome type 3", "MONDO:0007863": "Kleine-Levin syndrome", "MONDO:0007864": "angioosteohypertrophic syndrome", "MONDO:0007866": "Bart-Pumphrey syndrome", "MONDO:0007871": "familial congenital nasolacrimal duct obstruction", "MONDO:0007872": "LADD syndrome", "MONDO:0007874": "trichorhinophalangeal syndrome type II", "MONDO:0007875": "Larsen syndrome", "MONDO:0007876": "laryngeal abductor paralysis", "MONDO:0007878": "congenital laryngomalacia", "MONDO:0007879": "larynx atresia", "MONDO:0007880": "congenital laryngeal web", "MONDO:0007883": "lazy leukocyte syndrome", "MONDO:0007885": "Legg-Calve-Perthes disease", "MONDO:0007888": "hereditary leiomyomatosis and renal cell cancer", "MONDO:0007891": "familial generalized lentiginosis", "MONDO:0007892": "Lenz-Majewski hyperostotic dwarfism", "MONDO:0007893": "Noonan syndrome with multiple lentigines", "MONDO:0007894": "Leri pleonosteosis", "MONDO:0007895": "platyspondylic dysplasia, Torrance type", "MONDO:0007896": "acute monocytic leukemia", "MONDO:0007899": "lichen sclerosus et atrophicus", "MONDO:0007904": "median nodule of the upper lip", "MONDO:0007906": "familial partial lipodystrophy, Dunnigan type", "MONDO:0007908": "multiple symmetric lipomatosis", "MONDO:0007909": "familial multiple lipomatosis", "MONDO:0007915": "systemic lupus erythematosus (disease)", "MONDO:0007916": "primary intestinal lymphangiectasia", "MONDO:0007917": "lymphedema-cerebral arteriovenous anomaly syndrome", "MONDO:0007918": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "MONDO:0007919": "lymphedema, hereditary, 1A", "MONDO:0007920": "Meige disease", "MONDO:0007921": "yellow nail syndrome", "MONDO:0007922": "lymphedema-distichiasis syndrome", "MONDO:0007924": "Bannayan-Riley-Ruvalcaba syndrome", "MONDO:0007925": "chromosome 5q deletion syndrome", "MONDO:0007927": "congenital macroglossia", "MONDO:0007931": "vitelliform macular dystrophy 2", "MONDO:0007934": "benign concentric annular macular dystrophy", "MONDO:0007935": "cystoid macular edema", "MONDO:0007937": "renal hypomagnesemia 2", "MONDO:0007943": "Nager acrofacial dysostosis", "MONDO:0007946": "jaw-winking syndrome", "MONDO:0007947": "Marfan syndrome", "MONDO:0007949": "Marshall syndrome", "MONDO:0007950": "mastocytosis", "MONDO:0007953": "binder syndrome", "MONDO:0007956": "Pai syndrome", "MONDO:0007958": "familial medullary thyroid carcinoma", "MONDO:0007959": "medulloblastoma", "MONDO:0007967": "melanoma and neural system tumor syndrome", "MONDO:0007969": "Melkersson-Rosenthal syndrome", "MONDO:0007970": "melorheostosis", "MONDO:0007971": "delayed membranous cranial ossification", "MONDO:0007972": "Meniere disease", "MONDO:0007977": "mesomelic dysplasia, Kantaputra type", "MONDO:0007979": "metachondromatosis", "MONDO:0007982": "metaphyseal chondrodysplasia, Jansen type", "MONDO:0007983": "Schmid metaphyseal chondrodysplasia", "MONDO:0007984": "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome", "MONDO:0007986": "metatropic dysplasia", "MONDO:0007987": "Kniest dysplasia", "MONDO:0007988": "autosomal dominant primary microcephaly", "MONDO:0007989": "congenital microcoria", "MONDO:0007990": "multiple benign circumferential skin creases on limbs", "MONDO:0007991": "microcephaly-deafness-intellectual disability syndrome", "MONDO:0007992": "microcornea-glaucoma-absent frontal sinuses syndrome", "MONDO:0007993": "microgastria-limb reduction defect syndrome", "MONDO:0007998": "microspherophakia-metaphyseal dysplasia syndrome", "MONDO:0008003": "autosomal dominant progressive external ophthalmoplegia", "MONDO:0008004": "familial mitral valve prolapse", "MONDO:0008005": "cardiospondylocarpofacial syndrome", "MONDO:0008006": "Mobius syndrome", "MONDO:0008007": "tooth ankylosis", "MONDO:0008008": "MOMO syndrome", "MONDO:0008009": "monilethrix", "MONDO:0008013": "chromosome 9p deletion syndrome", "MONDO:0008016": "trismus-pseudocamptodactyly syndrome", "MONDO:0008017": "hereditary mucoepithelial dysplasia", "MONDO:0008018": "Muir-Torre syndrome", "MONDO:0008019": "mullerian aplasia and hyperandrogenism", "MONDO:0008023": "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome", "MONDO:0008026": "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures", "MONDO:0008029": "Bethlem myopathy", "MONDO:0008038": "ataxia-pancytopenia syndrome", "MONDO:0008039": "tropical spastic paraparesis", "MONDO:0008040": "transient myeloproliferative syndrome (disease)", "MONDO:0008043": "myoclonus-cerebellar ataxia-deafness syndrome", "MONDO:0008045": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome", "MONDO:0008046": "autosomal dominant myoglobinuria", "MONDO:0008047": "episodic ataxia type 1", "MONDO:0008048": "autosomal dominant centronuclear myopathy", "MONDO:0008050": "Laing early-onset distal myopathy", "MONDO:0008051": "tubular aggregate myopathy", "MONDO:0008054": "juvenile dermatomyositis", "MONDO:0008056": "myotonic dystrophy type 1", "MONDO:0008058": "cylindrical spirals myopathy", "MONDO:0008059": "Naegeli-Franceschetti-Jadassohn syndrome", "MONDO:0008060": "nonsyndromic congenital nail disorder 1", "MONDO:0008061": "nail-patella syndrome", "MONDO:0008070": "nemaline myopathy 3", "MONDO:0008071": "autosomal dominant progressive nephropathy with hypertension", "MONDO:0008073": "familial juvenile hyperuricemic nephropathy type 1", "MONDO:0008075": "neurofibromatosis type 3", "MONDO:0008082": "multiple endocrine neoplasia type 2B", "MONDO:0008083": "neuronal ceroid lipofuscinosis 4B", "MONDO:0008087": "hereditary neuropathy with liability to pressure palsies", "MONDO:0008090": "cyclic hematopoiesis", "MONDO:0008092": "hereditary neutrophilia", "MONDO:0008094": "familial multiple nevi flammei", "MONDO:0008097": "linear nevus sebaceus syndrome", "MONDO:0008098": "mesomelic dwarfism, Nievergelt type", "MONDO:0008101": "familial supernumerary nipples", "MONDO:0008108": "oculocerebrocutaneous syndrome", "MONDO:0008109": "ocular cicatricial pemphigoid", "MONDO:0008111": "oculodentodigital dysplasia", "MONDO:0008113": "Schilbach-Rott syndrome", "MONDO:0008115": "Feingold syndrome type 1", "MONDO:0008116": "oculopharyngeal muscular dystrophy", "MONDO:0008118": "odontomatosis-aortae esophagus stenosis syndrome", "MONDO:0008119": "spinocerebellar ataxia type 1", "MONDO:0008123": "autosomal dominant omodysplasia", "MONDO:0008127": "ophthalmomandibulomelic dysplasia", "MONDO:0008130": "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome", "MONDO:0008133": "optic atrophy 3", "MONDO:0008134": "autosomal dominant optic atrophy, classic form", "MONDO:0008136": "isolated optic nerve hypoplasia", "MONDO:0008137": "orofaciodigital syndrome X", "MONDO:0008138": "syndromic orbital border hypoplasia", "MONDO:0008139": "OSLAM syndrome", "MONDO:0008142": "Thiemann disease, familial form", "MONDO:0008145": "Ollier disease", "MONDO:0008146": "osteogenesis imperfecta type 1", "MONDO:0008147": "osteogenesis imperfecta type 2", "MONDO:0008148": "osteogenesis imperfecta type 4", "MONDO:0008150": "osteoglophonic dwarfism", "MONDO:0008151": "gnathodiaphyseal dysplasia", "MONDO:0008152": "multicentric carpo-tarsal osteolysis with or without nephropathy", "MONDO:0008153": "progressive osseous heteroplasia", "MONDO:0008155": "osteomesopyknosis", "MONDO:0008156": "autosomal dominant osteopetrosis 2", "MONDO:0008157": "Buschke-Ollendorff syndrome", "MONDO:0008158": "dacryocystitis-osteopoikilosis syndrome", "MONDO:0008161": "otodental syndrome", "MONDO:0008163": "otofaciocervical syndrome", "MONDO:0008165": "southeast Asian ovalocytosis", "MONDO:0008168": "ovarian fibroma (disease)", "MONDO:0008170": "ovarian cancer", "MONDO:0008175": "pacman dysplasia", "MONDO:0008177": "extramammary Paget disease", "MONDO:0008179": "paroxysmal extreme pain disorder", "MONDO:0008180": "congenital velopharyngeal incompetence", "MONDO:0008182": "nasopalpebral lipoma-coloboma syndrome", "MONDO:0008183": "annular pancreas", "MONDO:0008185": "hereditary chronic pancreatitis", "MONDO:0008195": "paramyotonia congenita of Von Eulenburg", "MONDO:0008196": "parastremmatic dwarfism", "MONDO:0008198": "parietal foramina with cleidocranial dysplasia", "MONDO:0008199": "late-onset Parkinson disease", "MONDO:0008201": "Perry syndrome", "MONDO:0008205": "patella aplasia/hypoplasia", "MONDO:0008206": "benign paroxysmal tonic upgaze of childhood with ataxia", "MONDO:0008207": "chondromalacia patellae", "MONDO:0008209": "Char syndrome", "MONDO:0008211": "pseudoleprechaunism syndrome, Patterson type", "MONDO:0008215": "adult-onset autosomal dominant demyelinating leukodystrophy", "MONDO:0008217": "pelvis-shoulder dysplasia", "MONDO:0008218": "Hailey-Hailey disease", "MONDO:0008219": "pemphigus vulgaris", "MONDO:0008221": "prolidase deficiency", "MONDO:0008222": "Andersen-Tawil syndrome", "MONDO:0008223": "hypokalemic periodic paralysis", "MONDO:0008224": "hyperkalemic periodic paralysis", "MONDO:0008225": "normokalemic periodic paralysis", "MONDO:0008227": "peripheral dysostosis", "MONDO:0008228": "pernicious anemia", "MONDO:0008231": "Peyronie disease", "MONDO:0008234": "multiple endocrine neoplasia type 2A", "MONDO:0008237": "phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome", "MONDO:0008244": "piebaldism", "MONDO:0008245": "piebald trait-neurologic defects syndrome", "MONDO:0008246": "pigmented paravenous retinochoroidal atrophy", "MONDO:0008247": "robin sequence-oligodactyly syndrome", "MONDO:0008250": "isolated growth hormone deficiency type II", "MONDO:0008251": "pityriasis rubra pilaris", "MONDO:0008259": "familial spontaneous pneumothorax", "MONDO:0008260": "Kindler syndrome", "MONDO:0008261": "hereditary sclerosing poikiloderma, Weary type", "MONDO:0008262": "Poland syndrome", "MONDO:0008264": "autosomal dominant medullary cystic kidney disease with or without hyperuricemia", "MONDO:0008267": "orofaciodigital syndrome V", "MONDO:0008268": "polydactyly-myopia syndrome", "MONDO:0008269": "polydactyly of a biphalangeal thumb", "MONDO:0008270": "polydactyly of a triphalangeal thumb", "MONDO:0008271": "polydactyly of an index finger", "MONDO:0008272": "polysyndactyly", "MONDO:0008273": "actinic prurigo", "MONDO:0008274": "polyostotic fibrous dysplasia", "MONDO:0008275": "familial expansile osteolysis", "MONDO:0008276": "generalized juvenile polyposis/juvenile polyposis coli", "MONDO:0008280": "Peutz-Jeghers syndrome", "MONDO:0008283": "Cronkhite-Canada syndrome", "MONDO:0008286": "crossed polysyndactyly", "MONDO:0008287": "Greig cephalopolysyndactyly syndrome", "MONDO:0008289": "porencephaly 1", "MONDO:0008291": "porokeratosis plantaris palmaris et disseminata", "MONDO:0008292": "punctate palmoplantar keratoderma type 2", "MONDO:0008294": "acute intermittent porphyria", "MONDO:0008295": "sporadic porphyria cutanea tarda", "MONDO:0008296": "familial porphyria cutanea tarda", "MONDO:0008297": "variegate porphyria", "MONDO:0008298": "postaxial tetramelic oligodactyly", "MONDO:0008300": "Prader-Willi syndrome", "MONDO:0008301": "Guttmacher syndrome", "MONDO:0008303": "familial male-limited precocious puberty", "MONDO:0008305": "Currarino triad", "MONDO:0008306": "ABri amyloidosis", "MONDO:0008310": "Hutchinson-Gilford progeria syndrome", "MONDO:0008311": "progeria-short stature-pigmented nevi syndrome", "MONDO:0008312": "autosomal dominant prognathism", "MONDO:0008318": "Proteus syndrome", "MONDO:0008322": "pseudoachondroplasia", "MONDO:0008323": "Liddle syndrome", "MONDO:0008327": "exfoliation syndrome", "MONDO:0008329": "autosomal dominant pseudohypoaldosteronism type 1", "MONDO:0008331": "pseudopapilledema (disease)", "MONDO:0008332": "pseudo-von Willebrand disease", "MONDO:0008335": "short stature-craniofacial anomalies-genital hypoplasia syndrome", "MONDO:0008337": "familial pterygium of the conjunctiva", "MONDO:0008338": "autosomal dominant multiple pterygium syndrome", "MONDO:0008339": "antecubital pterygium syndrome", "MONDO:0008340": "congenital ptosis (disease)", "MONDO:0008341": "ptosis-strabismus-ectopic pupils syndrome", "MONDO:0008343": "pulmonary atresia with ventricular septal defect", "MONDO:0008346": "pulmonary hemosiderosis", "MONDO:0008347": "idiopathic and/or familial pulmonary arterial hypertension", "MONDO:0008348": "pulmonary nodular lymphoid hyperplasia", "MONDO:0008353": "pruritic urticarial papules and plaques of pregnancy", "MONDO:0008357": "radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome", "MONDO:0008358": "radial ray hypoplasia-choanal atresia syndrome", "MONDO:0008359": "radio-renal syndrome", "MONDO:0008365": "recombinant 8 syndrome", "MONDO:0008368": "autosomal dominant distal renal tubular acidosis", "MONDO:0008369": "proximal renal tubular acidosis", "MONDO:0008371": "Dowling-Degos disease", "MONDO:0008373": "retinal arterial tortuosity (disease)", "MONDO:0008380": "retinoblastoma", "MONDO:0008383": "rheumatoid arthritis", "MONDO:0008387": "ring dermoid of cornea", "MONDO:0008388": "ringed hair disease", "MONDO:0008389": "autosomal dominant Robinow syndrome", "MONDO:0008390": "Rombo syndrome", "MONDO:0008391": "Robinow-Sorauf syndrome", "MONDO:0008392": "Roussy-Levy syndrome", "MONDO:0008393": "Rubinstein-Taybi syndrome due to CREBBP mutations", "MONDO:0008394": "Silver-Russell syndrome", "MONDO:0008395": "Ruvalcaba syndrome", "MONDO:0008396": "oculodental syndrome, Rutherfurd type", "MONDO:0008397": "aplasia of lacrimal and salivary glands", "MONDO:0008401": "pleomorphic adenoma", "MONDO:0008402": "cleft palate-large ears-small head syndrome", "MONDO:0008403": "scalp defects-postaxial polydactyly syndrome", "MONDO:0008404": "scalp-ear-nipple syndrome", "MONDO:0008406": "autosomal recessive Emery-Dreifuss muscular dystrophy", "MONDO:0008407": "neurogenic scapuloperoneal syndrome, Kaeser type", "MONDO:0008408": "scapuloperoneal spinal muscular atrophy", "MONDO:0008409": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "MONDO:0008410": "Scheuermann disease", "MONDO:0008411": "ulnar-mammary syndrome", "MONDO:0008416": "palmoplantar keratoderma-sclerodactyly syndrome", "MONDO:0008421": "flat face-microstomia-ear anomaly syndrome", "MONDO:0008425": "omphalocele syndrome, Shprintzen-Goldberg type", "MONDO:0008426": "Shprintzen-Goldberg syndrome", "MONDO:0008428": "septooptic dysplasia", "MONDO:0008429": "singleton-Merten dysplasia", "MONDO:0008433": "small cell lung carcinoma", "MONDO:0008434": "Smith-Magenis syndrome", "MONDO:0008436": "Sneddon syndrome", "MONDO:0008437": "hereditary spastic paraplegia 3A", "MONDO:0008438": "hereditary spastic paraplegia 4", "MONDO:0008439": "spastic paraplegia-epilepsy-intellectual disability syndrome", "MONDO:0008440": "spastic paraplegia-nephritis-deafness syndrome", "MONDO:0008442": "spastic paraplegia-neuropathy-poikiloderma syndrome", "MONDO:0008443": "spastic paraplegia-precocious puberty syndrome", "MONDO:0008445": "delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome", "MONDO:0008451": "distal hereditary motor neuropathy type 1", "MONDO:0008453": "adult-onset proximal spinal muscular atrophy, autosomal dominant", "MONDO:0008457": "spinocerebellar ataxia type 6", "MONDO:0008458": "spinocerebellar ataxia type 2", "MONDO:0008460": "splenogonadal fusion-limb defects-micrognathia syndrome", "MONDO:0008465": "Patterson-Stevenson-Fontaine syndrome", "MONDO:0008466": "Karsch-Neugebauer syndrome", "MONDO:0008467": "Czeizel-Losonci syndrome", "MONDO:0008469": "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome", "MONDO:0008470": "spondyloepiphyseal dysplasia with punctate corneal dystrophy", "MONDO:0008471": "spondyloepiphyseal dysplasia congenita", "MONDO:0008472": "spondyloepiphyseal dysplasia, MacDermot type", "MONDO:0008473": "spondyloepiphyseal dysplasia, Maroteaux type", "MONDO:0008476": "spondyloepimetaphyseal dysplasia, Strudwick type", "MONDO:0008477": "spondylometaphyseal dysplasia, Kozlowski type", "MONDO:0008478": "spondylometaphyseal dysplasia, Schmidt type", "MONDO:0008479": "spondylometaphyseal dysplasia, 'corner fracture' type", "MONDO:0008482": "Sprengel deformity (disease)", "MONDO:0008484": "stapes ankylosis with broad thumbs and toes", "MONDO:0008485": "sebocystomatosis", "MONDO:0008486": "steatocystoma multiplex-natal teeth syndrome", "MONDO:0008487": "polycystic ovary syndrome", "MONDO:0008488": "holoprosencephaly-radial heart renal anomalies syndrome", "MONDO:0008490": "Stickler syndrome type 3", "MONDO:0008491": "stiff-person syndrome", "MONDO:0008492": "stiff skin syndrome", "MONDO:0008493": "overhydrated hereditary stomatocytosis", "MONDO:0008494": "hereditary cryohydrocytosis with normal stomatin", "MONDO:0008495": "platelet storage pool deficiency", "MONDO:0008497": "Stormorken syndrome", "MONDO:0008499": "short stature-wormian bones-dextrocardia syndrome", "MONDO:0008501": "Sturge-Weber syndrome", "MONDO:0008503": "Worster-Drought syndrome", "MONDO:0008504": "supravalvular aortic stenosis (disease)", "MONDO:0008509": "distal symphalangism (disease)", "MONDO:0008510": "symphalangism with multiple anomalies of hands and feet", "MONDO:0008511": "proximal symphalangism (disease)", "MONDO:0008512": "syndactyly type 1", "MONDO:0008513": "synpolydactyly type 1", "MONDO:0008514": "syndactyly type 3", "MONDO:0008515": "syndactyly type 4", "MONDO:0008516": "syndactyly type 5", "MONDO:0008517": "syndactyly-polydactyly-ear lobe syndrome", "MONDO:0008520": "brachydactyly-elbow wrist dysplasia syndrome", "MONDO:0008521": "tarsal-carpal coalition syndrome", "MONDO:0008523": "Blau syndrome", "MONDO:0008534": "generalized essential telangiectasia", "MONDO:0008537": "telecanthus", "MONDO:0008538": "temporal arteritis", "MONDO:0008540": "extensor tendons of finger anomalies", "MONDO:0008542": "tetralogy of fallot", "MONDO:0008544": "tetramelic monodactyly", "MONDO:0008546": "thanatophoric dysplasia type 1", "MONDO:0008547": "thanatophoric dysplasia type 2", "MONDO:0008551": "thoracolaryngopelvic dysplasia", "MONDO:0008557": "Paris-Trousseau thrombocytopenia", "MONDO:0008558": "autoimmune thrombocytopenic purpura", "MONDO:0008562": "thumb deformity-alopecia-pigmentation anomaly syndrome", "MONDO:0008563": "thumb stiffness-brachydactyly-intellectual disability syndrome", "MONDO:0008565": "familial thyroglossal duct cyst", "MONDO:0008572": "tibia, hypoplasia or aplasia of, with polydactyly", "MONDO:0008582": "tooth and nail syndrome", "MONDO:0008585": "HELLP syndrome", "MONDO:0008586": "esophageal atresia/tracheoesophageal fistula", "MONDO:0008587": "tracheobronchopathia osteochondroplastica", "MONDO:0008588": "hereditary geniospasm", "MONDO:0008591": "tremor-nystagmus-duodenal ulcer syndrome", "MONDO:0008592": "tricho-dento-osseous syndrome", "MONDO:0008594": "FMDF", "MONDO:0008598": "trichodysplasia-xeroderma syndrome", "MONDO:0008599": "trigeminal neuralgia", "MONDO:0008606": "Say-field-Coldwell syndrome", "MONDO:0008607": "triphalangeal thumbs-brachyectrodactyly syndrome", "MONDO:0008608": "down syndrome", "MONDO:0008610": "blue color blindness", "MONDO:0008611": "humerus trochlea aplasia", "MONDO:0008618": "mesomelic dwarfism, Reinhardt-Pfeiffer type", "MONDO:0008619": "ulna metaphyseal dysplasia syndrome", "MONDO:0008620": "upper limb mesomelic dysplasia", "MONDO:0008621": "uncombable hair syndrome", "MONDO:0008622": "tricho-retino-dento-digital syndrome", "MONDO:0008624": "Upington disease", "MONDO:0008633": "Muckle-Wells syndrome", "MONDO:0008636": "double uterus-hemivagina-renal agenesis syndrome", "MONDO:0008637": "bifid uvula", "MONDO:0008641": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations", "MONDO:0008642": "VACTERL/vater association", "MONDO:0008645": "ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome", "MONDO:0008650": "posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome", "MONDO:0008652": "congenital vertical talus", "MONDO:0008659": "transcobalamin i deficiency", "MONDO:0008660": "autosomal dominant hypophosphatemic rickets", "MONDO:0008661": "vitiligo", "MONDO:0008662": "autosomal dominant vitreoretinochoroidopathy", "MONDO:0008663": "snowflake vitreoretinal degeneration", "MONDO:0008665": "ptosis-vocal cord paralysis syndrome", "MONDO:0008667": "von Hippel-Lindau disease", "MONDO:0008668": "von Willebrand disease 1", "MONDO:0008670": "Waardenburg syndrome type 1", "MONDO:0008672": "Watson syndrome", "MONDO:0008673": "acrofacial dysostosis, Weyers type", "MONDO:0008675": "freeman-Sheldon syndrome", "MONDO:0008678": "Williams syndrome", "MONDO:0008681": "WAGR syndrome", "MONDO:0008682": "Denys-Drash syndrome", "MONDO:0008684": "Wolf-Hirschhorn syndrome", "MONDO:0008685": "Wolff-Parkinson-white syndrome (disease)", "MONDO:0008686": "isolated familial woolly hair disorder", "MONDO:0008688": "WT limb-blood syndrome", "MONDO:0008692": "abetalipoproteinemia", "MONDO:0008693": "ablepharon macrostomia syndrome", "MONDO:0008694": "pseudoprogeria syndrome", "MONDO:0008695": "chorea-acanthocytosis", "MONDO:0008696": "acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome", "MONDO:0008699": "achalasia microcephaly syndrome", "MONDO:0008700": "acheiropody", "MONDO:0008701": "achondrogenesis type IA", "MONDO:0008702": "achondrogenesis type II", "MONDO:0008703": "acromesomelic dysplasia, Grebe type", "MONDO:0008704": "short-limb skeletal dysplasia with severe combined immunodeficiency", "MONDO:0008705": "lysosomal acid phosphatase deficiency", "MONDO:0008706": "Ackerman syndrome", "MONDO:0008707": "acro-renal-mandibular syndrome", "MONDO:0008708": "acrocallosal syndrome", "MONDO:0008709": "acrocephalopolydactyly", "MONDO:0008711": "Goodman syndrome", "MONDO:0008712": "acrocraniofacial dysostosis", "MONDO:0008713": "acrodermatitis enteropathica", "MONDO:0008714": "acrofacial dysostosis Rodriguez type", "MONDO:0008715": "acrofrontofacionasal dysostosis", "MONDO:0008716": "acrogeria", "MONDO:0008717": "acromesomelic dysplasia, Hunter-Thompson type", "MONDO:0008718": "Morvan syndrome", "MONDO:0008720": "congenital isolated adrenocorticotropic hormone deficiency (disease)", "MONDO:0008721": "medium chain acyl-CoA dehydrogenase deficiency", "MONDO:0008722": "short chain acyl-CoA dehydrogenase deficiency", "MONDO:0008723": "very long chain acyl-CoA dehydrogenase deficiency", "MONDO:0008724": "adducted thumbs-arthrogryposis syndrome, Christian type", "MONDO:0008725": "congenital lipoid adrenal hyperplasia due to STAR deficency", "MONDO:0008726": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis", "MONDO:0008727": "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency", "MONDO:0008728": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "MONDO:0008729": "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "MONDO:0008730": "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "MONDO:0008731": "familial adrenal hypoplasia with absent pituitary luteinizing hormone", "MONDO:0008733": "familial glucocorticoid deficiency", "MONDO:0008737": "congenital afibrinogenemia", "MONDO:0008740": "agnathia-otocephaly complex", "MONDO:0008741": "PAGOD syndrome", "MONDO:0008742": "autosomal dominant severe congenital neutropenia", "MONDO:0008743": "Stimmler syndrome", "MONDO:0008744": "alar cartilages hypoplasia-coloboma-telecanthus syndrome", "MONDO:0008745": "oculocutaneous albinism type 1A", "MONDO:0008746": "oculocutaneous albinism type 2", "MONDO:0008747": "oculocutaneous albinism type 3", "MONDO:0008749": "pseudohypoparathyroidism type 2", "MONDO:0008750": "microcephaly-albinism-digital anomalies syndrome", "MONDO:0008752": "Alexander disease", "MONDO:0008753": "alkaptonuria", "MONDO:0008754": "alopecia - contractures - dwarfism - intellectual disability syndrome", "MONDO:0008755": "Moynahan syndrome", "MONDO:0008756": "alopecia - intellectual disability syndrome", "MONDO:0008757": "alopecia universalis", "MONDO:0008758": "mitochondrial DNA depletion syndrome 4a", "MONDO:0008759": "oxoglutaricaciduria", "MONDO:0008760": "beta-ketothiolase deficiency", "MONDO:0008762": "autosomal recessive Alport syndrome", "MONDO:0008763": "Alstrom syndrome", "MONDO:0008766": "amaurosis-hypertrichosis syndrome", "MONDO:0008767": "neuronal ceroid lipofuscinosis 3", "MONDO:0008768": "neuronal ceroid lipofuscinosis 4A", "MONDO:0008769": "neuronal ceroid lipofuscinosis 2", "MONDO:0008771": "amelogenesis imperfecta type 1G", "MONDO:0008774": "2-aminoadipic 2-oxoadipic aciduria", "MONDO:0008777": "gelatinous drop-like corneal dystrophy", "MONDO:0008783": "Tangier disease", "MONDO:0008787": "microcytic anemia with liver iron overload", "MONDO:0008788": "IRIDA syndrome", "MONDO:0008791": "isolated anencephaly/exencephaly", "MONDO:0008792": "familial angiolipomatosis", "MONDO:0008795": "aniridia-cerebellar ataxia-intellectual disability syndrome", "MONDO:0008796": "aniridia-renal agenesis-psychomotor retardation syndrome", "MONDO:0008797": "anodontia", "MONDO:0008798": "nonsyndromic congenital nail disorder 4", "MONDO:0008799": "anophthalmia/microphthalmia-esophageal atresia syndrome", "MONDO:0008800": "microphthalmia with limb anomalies", "MONDO:0008803": "Antley-Bixler syndrome", "MONDO:0008806": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome", "MONDO:0008808": "aplasia cutis congenita-intestinal lymphangiectasia syndrome", "MONDO:0008809": "polyneuropathy-hand defect syndrome", "MONDO:0008810": "familial apolipoprotein C-II deficiency", "MONDO:0008811": "XK aprosencephaly", "MONDO:0008812": "AREDYLD syndrome", "MONDO:0008813": "arachnoid cyst", "MONDO:0008814": "hyperargininemia", "MONDO:0008815": "argininosuccinic aciduria", "MONDO:0008816": "Chiari malformation type II", "MONDO:0008818": "arterial tortuosity syndrome", "MONDO:0008823": "neurogenic arthrogryposis multiplex congenita", "MONDO:0008825": "arthrogryposis multiplex congenita-whistling face syndrome", "MONDO:0008826": "arthrogryposis-hyperkeratosis syndrome, lethal form", "MONDO:0008827": "progressive pseudorheumatoid arthropathy of childhood", "MONDO:0008828": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome", "MONDO:0008829": "chylous ascites", "MONDO:0008830": "aspartylglucosaminuria", "MONDO:0008832": "right atrial isomerism (disease)", "MONDO:0008838": "ataxia - deafness - intellectual disability syndrome", "MONDO:0008840": "ataxia telangiectasia", "MONDO:0008842": "ataxia with oculomotor apraxia type 1", "MONDO:0008843": "atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome", "MONDO:0008846": "atransferrinemia", "MONDO:0008847": "atrichia with papular lesions", "MONDO:0008849": "atrophoderma vermiculata", "MONDO:0008850": "Cooper-Jabs syndrome", "MONDO:0008853": "Barber-Say syndrome", "MONDO:0008855": "MHC class II deficiency", "MONDO:0008857": "Beemer-Ertbruggen syndrome", "MONDO:0008858": "Behr syndrome", "MONDO:0008863": "sitosterolemia", "MONDO:0008864": "Biemond syndrome type 2", "MONDO:0008865": "Bietti crystalline corneoretinal dystrophy", "MONDO:0008867": "biliary atresia", "MONDO:0008870": "bird headed-dwarfism, Montreal type", "MONDO:0008872": "microcephalic osteodysplastic primordial dwarfism type II", "MONDO:0008874": "Bangstad syndrome", "MONDO:0008875": "blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome", "MONDO:0008876": "Bloom syndrome", "MONDO:0008877": "blue diaper syndrome", "MONDO:0008878": "bone dysplasia, lethal Holmgren type", "MONDO:0008879": "Bowen-Conradi syndrome", "MONDO:0008880": "Bowen syndrome of multiple malformations", "MONDO:0008881": "kyphomelic dysplasia", "MONDO:0008882": "congenital bowing of long bones", "MONDO:0008884": "oculoosteocutaneous syndrome", "MONDO:0008885": "Branchioskeletogenital syndrome", "MONDO:0008886": "Sabinas brittle hair syndrome", "MONDO:0008888": "Williams-Campbell syndrome", "MONDO:0008889": "thromboangiitis obliterans", "MONDO:0008891": "riboflavin transporter deficiency", "MONDO:0008892": "progressive familial intrahepatic cholestasis type 1", "MONDO:0008893": "c syndrome", "MONDO:0008894": "cataract-hypertrichosis-intellectual disability syndrome", "MONDO:0008895": "hereditary arterial and articular multiple calcification syndrome", "MONDO:0008896": "campomelia, Cumming type", "MONDO:0008898": "camptodactyly syndrome, Guadalajara type 1", "MONDO:0008899": "camptodactyly syndrome, Guadalajara type 2", "MONDO:0008900": "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia", "MONDO:0008901": "Tel Hashomer camptodactyly syndrome", "MONDO:0008905": "predisposition to invasive fungal disease due to CARD9 deficiency", "MONDO:0008907": "PMM2-CDG", "MONDO:0008908": "MGAT2-CDG", "MONDO:0008915": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "MONDO:0008917": "heart defects-limb shortening syndrome", "MONDO:0008918": "carnitine-acylcarnitine translocase deficiency", "MONDO:0008919": "systemic primary carnitine deficiency disease", "MONDO:0008921": "carnosinemia", "MONDO:0008922": "Sengers syndrome", "MONDO:0008923": "autosomal recessive palmoplantar keratoderma and congenital alopecia", "MONDO:0008924": "congenital cataract-ichthyosis syndrome", "MONDO:0008925": "cataract 46 juvenile-onset", "MONDO:0008926": "COFS syndrome", "MONDO:0008927": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "MONDO:0008928": "cataract-ataxia-deafness syndrome", "MONDO:0008931": "Cenani-Lenz syndactyly syndrome", "MONDO:0008934": "cerebellar ataxia-ectodermal dysplasia syndrome", "MONDO:0008935": "cerebellar ataxia-hypogonadism syndrome", "MONDO:0008938": "early-onset cerebellar ataxia with retained tendon reflexes", "MONDO:0008939": "isolated cerebellar hypoplasia/agenesis", "MONDO:0008941": "hepatic fibrosis-renal cysts-intellectual disability syndrome", "MONDO:0008943": "autosomal recessive spinocerebellar ataxia 2", "MONDO:0008947": "bilateral striopallidodentate calcinosis", "MONDO:0008948": "cerebrotendinous xanthomatosis", "MONDO:0008959": "CHAND syndrome", "MONDO:0008960": "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome", "MONDO:0008961": "Charcot-Marie-Tooth disease type 4A", "MONDO:0008962": "Griscelli syndrome type 1", "MONDO:0008963": "Chediak-Higashi syndrome", "MONDO:0008964": "congenital secretory chloride diarrhea 1", "MONDO:0008965": "CHARGE syndrome", "MONDO:0008966": "Aagenaes syndrome", "MONDO:0008967": "congenital bile acid synthesis defect 4", "MONDO:0008970": "chondrodysplasia Blomstrand type", "MONDO:0008972": "rhizomelic chondrodysplasia punctata type 1", "MONDO:0008973": "chondrodysplasia punctata, Toriello type", "MONDO:0008974": "Greenberg dysplasia", "MONDO:0008975": "otospondylomegaepiphyseal dysplasia", "MONDO:0008977": "chondrosarcoma (disease)", "MONDO:0008978": "chordoma (disease)", "MONDO:0008980": "ataxia-hypogonadism-choroidal dystrophy syndrome", "MONDO:0008981": "infantile choroidocerebral calcification syndrome", "MONDO:0008982": "central areolar choroidal dystrophy", "MONDO:0008988": "citrullinemia type I", "MONDO:0008990": "cleft larynx, posterior", "MONDO:0008991": "Verloove Vanhorick-Brubakk syndrome", "MONDO:0008992": "Juberg-Hayward syndrome", "MONDO:0008993": "cleft palate-stapes fixation-oligodontia syndrome", "MONDO:0008995": "Yunis-Varon syndrome", "MONDO:0008998": "Cockayne syndrome type 3", "MONDO:0008999": "Cohen syndrome", "MONDO:0009000": "familial reactive perforating collagenosis", "MONDO:0009001": "macular coloboma-cleft palate-hallux valgus syndrome", "MONDO:0009007": "Jalili syndrome", "MONDO:0009008": "heart defect - tongue hamartoma - polysyndactyly syndrome", "MONDO:0009009": "hypoplasminogenemia", "MONDO:0009010": "aortic arch interruption", "MONDO:0009012": "multiple pterygium-malignant hyperthermia syndrome", "MONDO:0009015": "corneal dystrophy-perceptive deafness syndrome", "MONDO:0009018": "central cloudy dystrophy of François", "MONDO:0009019": "congenital hereditary endothelial dystrophy of cornea", "MONDO:0009020": "macular corneal dystrophy", "MONDO:0009021": "Toriello-Carey syndrome", "MONDO:0009022": "corpus callosum, agenesis of", "MONDO:0009024": "cortical blindness-intellectual disability-polydactyly syndrome", "MONDO:0009025": "apparent mineralocorticoid excess", "MONDO:0009026": "Costello syndrome", "MONDO:0009028": "Crane-Heise syndrome", "MONDO:0009031": "craniodiaphyseal dysplasia", "MONDO:0009032": "cranioectodermal dysplasia", "MONDO:0009033": "temtamy syndrome", "MONDO:0009034": "craniofacial dyssynostosis", "MONDO:0009036": "cardiocranial syndrome, Pfeiffer type", "MONDO:0009038": "craniosynostosis-fibular aplasia syndrome", "MONDO:0009039": "Baller-Gerold syndrome", "MONDO:0009042": "craniotelencephalic dysplasia", "MONDO:0009043": "generalized resistance to thyroid hormone", "MONDO:0009044": "Crigler-Najjar syndrome", "MONDO:0009045": "cataract-nephropathy-encephalopathy syndrome", "MONDO:0009046": "Fraser syndrome", "MONDO:0009049": "Cushing syndrome due to macronodular adrenal hyperplasia", "MONDO:0009050": "Cushing disease due to pituitary adenoma", "MONDO:0009051": "cutaneous photosensitivity-lethal colitis syndrome", "MONDO:0009053": "ALDH18A1-related de Barsy syndrome", "MONDO:0009054": "autosomal recessive cutis laxa type 2, classic type", "MONDO:0009055": "cutis marmorata telangiectatica congenita (disease)", "MONDO:0009056": "cutis verticis gyrata and mental retardation", "MONDO:0009058": "cystathioninuria (disease)", "MONDO:0009061": "cystic fibrosis", "MONDO:0009062": "cystic fibrosis-gastritis-megaloblastic anemia syndrome", "MONDO:0009063": "ventriculomegaly-cystic kidney disease", "MONDO:0009064": "ocular cystinosis", "MONDO:0009066": "juvenile nephropathic cystinosis", "MONDO:0009067": "cystinuria (disease)", "MONDO:0009069": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type", "MONDO:0009070": "D-glyceric aciduria", "MONDO:0009071": "hereditary renal hypouricemia", "MONDO:0009072": "Dandy-Walker syndrome", "MONDO:0009074": "facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome", "MONDO:0009075": "Dandy-Walker malformation-postaxial polydactyly syndrome", "MONDO:0009079": "DOORS syndrome", "MONDO:0009080": "split hand-foot malformation 1 with sensorineural hearing loss", "MONDO:0009082": "high myopia-sensorineural deafness syndrome", "MONDO:0009083": "conductive deafness-malformed external ear syndrome", "MONDO:0009084": "conductive deafness-ptosis-skeletal anomalies syndrome", "MONDO:0009085": "deafness-vitiligo-achalasia syndrome", "MONDO:0009086": "deafness-small bowel diverticulosis-neuropathy syndrome", "MONDO:0009089": "deafness-oligodontia syndrome", "MONDO:0009091": "non-acquired combined pituitary hormone deficiency with spine abnormalities", "MONDO:0009092": "Nasu-Hakola disease", "MONDO:0009093": "Dermatoleukodystrophy", "MONDO:0009094": "dermochondrocorneal dystrophy", "MONDO:0009095": "dermatoosteolysis, Kirghizian type", "MONDO:0009097": "persistent hyperplastic primary vitreous, autosomal recessive", "MONDO:0009099": "nephrogenic diabetes insipidus-intracranial calcification syndrome", "MONDO:0009104": "Donnai-Barrow syndrome", "MONDO:0009105": "tricho-hepato-enteric syndrome", "MONDO:0009106": "diastematomyelia", "MONDO:0009107": "diastrophic dysplasia", "MONDO:0009108": "hyperdibasic aminoaciduria type 1", "MONDO:0009109": "lysinuric protein intolerance", "MONDO:0009110": "dicarboxylic aminoaciduria", "MONDO:0009111": "dihydropyrimidinuria", "MONDO:0009112": "rhizomelic chondrodysplasia punctata type 2", "MONDO:0009113": "hemolytic anemia due to diphosphoglycerate mutase deficiency", "MONDO:0009114": "congenital sucrase-isomaltase deficiency", "MONDO:0009115": "congenital lactase deficiency", "MONDO:0009120": "marfanoid syndrome, De Silva type", "MONDO:0009121": "von Voss-Cherstvoy syndrome", "MONDO:0009123": "dopamine beta-hydroxylase deficiency", "MONDO:0009124": "Dubowitz syndrome", "MONDO:0009126": "duodenal atresia (disease)", "MONDO:0009128": "dwarfism, mental retardation, and eye abnormality", "MONDO:0009130": "Dyggve-Melchior-Clausen disease", "MONDO:0009131": "Riley-Day syndrome", "MONDO:0009133": "dysequilibrium syndrome", "MONDO:0009134": "congenital dyserythropoietic anemia type 2", "MONDO:0009138": "dysosteosclerosis", "MONDO:0009139": "dyssegmental dysplasia, Rolland-Desbuquois type", "MONDO:0009140": "Silverman-Handmaker type dyssegmental dysplasia", "MONDO:0009141": "torsion dystonia 2", "MONDO:0009144": "Ebstein anomaly", "MONDO:0009145": "SchC6pf-Schulz-Passarge syndrome", "MONDO:0009146": "ectodermal dysplasia-sensorineural deafness syndrome", "MONDO:0009148": "Rosselli-Gulienetti syndrome", "MONDO:0009149": "ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome", "MONDO:0009150": "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome", "MONDO:0009151": "Zlotogora-Ogur syndrome", "MONDO:0009155": "EEM syndrome", "MONDO:0009156": "ectrodactyly-polydactyly syndrome", "MONDO:0009158": "Ehlers-Danlos syndrome, fibronectinemic type", "MONDO:0009159": "Ehlers-Danlos syndrome, cardiac valvular type", "MONDO:0009161": "Ehlers-Danlos syndrome, dermatosparaxis type", "MONDO:0009162": "Ellis-van Creveld syndrome", "MONDO:0009166": "pontocerebellar hypoplasia type 4", "MONDO:0009167": "Bonnemann-Meinecke-Reich syndrome", "MONDO:0009168": "fowler syndrome", "MONDO:0009169": "endocardial fibroelastosis", "MONDO:0009173": "congenital enteropathy due to enteropeptidase deficiency", "MONDO:0009174": "protein-losing enteropathy (disease)", "MONDO:0009175": "eosinophilic fasciitis (disease)", "MONDO:0009176": "epidermodysplasia verruciformis", "MONDO:0009177": "late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome", "MONDO:0009179": "recessive dystrophic epidermolysis bullosa", "MONDO:0009180": "junctional epidermolysis bullosa, non-Herlitz type", "MONDO:0009181": "epidermolysis bullosa simplex with muscular dystrophy", "MONDO:0009182": "junctional epidermolysis bullosa Herlitz type", "MONDO:0009183": "junctional epidermolysis bullosa with pyloric atresia", "MONDO:0009185": "amelocerebrohypohidrotic syndrome", "MONDO:0009187": "celiac disease-epilepsy-cerebral calcification syndrome", "MONDO:0009188": "epilepsy-telangiectasia syndrome", "MONDO:0009189": "multiple epiphyseal dysplasia type 4", "MONDO:0009191": "Lowry-wood syndrome", "MONDO:0009192": "Wolcott-Rallison syndrome", "MONDO:0009194": "chronic Epstein-Barr virus infection syndrome", "MONDO:0009196": "ermine phenotype", "MONDO:0009197": "transient erythroblastopenia of childhood", "MONDO:0009198": "congenital lethal erythroderma", "MONDO:0009200": "eyebrow duplication-syndactyly syndrome", "MONDO:0009202": "Thakker-Donnai syndrome", "MONDO:0009203": "focal facial dermal dysplasia type III", "MONDO:0009204": "lethal faciocardiomelic dysplasia", "MONDO:0009205": "faciocardiorenal syndrome", "MONDO:0009209": "autosomal recessive faciodigitogenital syndrome", "MONDO:0009210": "congenital factor V deficiency", "MONDO:0009211": "congenital factor VII deficiency", "MONDO:0009212": "congenital factor X deficiency", "MONDO:0009216": "glycogen storage disease due to GLUT2 deficiency", "MONDO:0009218": "Farber lipogranulomatosis", "MONDO:0009221": "femur-fibula-ulna complex", "MONDO:0009222": "Gollop-Wolfgang complex", "MONDO:0009223": "hypogonadotropic hypogonadism 23 with or without anosmia", "MONDO:0009224": "fetal iodine syndrome", "MONDO:0009228": "gingival fibromatosis-facial dysmorphism syndrome", "MONDO:0009229": "hyaline fibromatosis syndrome", "MONDO:0009231": "fibular hypoplasia and complex brachydactyly", "MONDO:0009232": "Fuhrmann syndrome", "MONDO:0009233": "Fibulo-ulnar hypoplasia-renal anomalies syndrome", "MONDO:0009234": "congenital high-molecular-weight kininogen deficiency", "MONDO:0009235": "familial benign flecked retina", "MONDO:0009236": "Kandori fleck retina", "MONDO:0009238": "hereditary folate malabsorption", "MONDO:0009239": "hypogonadotropic hypogonadism 24 without anosmia", "MONDO:0009240": "formiminoglutamic aciduria", "MONDO:0009241": "fountain syndrome", "MONDO:0009242": "brittle cornea syndrome", "MONDO:0009243": "Fraser-like syndrome", "MONDO:0009247": "frontofacionasal dysplasia", "MONDO:0009249": "hereditary fructose intolerance", "MONDO:0009251": "fructose-1,6-bisphosphatase deficiency", "MONDO:0009252": "essential fructosuria", "MONDO:0009253": "Fryns syndrome", "MONDO:0009254": "fucosidosis", "MONDO:0009255": "galactokinase deficiency", "MONDO:0009257": "galactose epimerase deficiency", "MONDO:0009258": "classic galactosemia", "MONDO:0009259": "gamma-glutamylcysteine synthetase deficiency", "MONDO:0009260": "GM1 gangliosidosis type 1", "MONDO:0009261": "GM1 gangliosidosis type 2", "MONDO:0009262": "GM1 gangliosidosis type 3", "MONDO:0009263": "gapo syndrome", "MONDO:0009264": "gastroschisis", "MONDO:0009265": "Gaucher disease type I", "MONDO:0009266": "Gaucher disease type II", "MONDO:0009267": "Gaucher disease type III", "MONDO:0009268": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "MONDO:0009270": "genito-palato-cardiac syndrome", "MONDO:0009271": "geroderma osteodysplastica", "MONDO:0009272": "German syndrome", "MONDO:0009274": "ghosal hematodiaphyseal dysplasia", "MONDO:0009275": "neonatal hemochromatosis", "MONDO:0009276": "Bernard-Soulier syndrome", "MONDO:0009277": "glaucoma 3A", "MONDO:0009279": "triple-A syndrome", "MONDO:0009281": "glutaryl-CoA dehydrogenase deficiency", "MONDO:0009282": "multiple acyl-CoA dehydrogenase deficiency", "MONDO:0009283": "glutaric acidemia type 3", "MONDO:0009284": "glutathione synthetase deficiency without 5-oxoprolinuria", "MONDO:0009285": "gamma-glutamyl transpeptidase deficiency", "MONDO:0009287": "glycogen storage disease due to glucose-6-phosphatase deficiency type IA", "MONDO:0009288": "glycogen storage disease due to glucose-6-phosphatase deficiency type IB", "MONDO:0009290": "glycogen storage disease II", "MONDO:0009291": "glycogen storage disease III", "MONDO:0009292": "glycogen storage disease due to glycogen branching enzyme deficiency", "MONDO:0009293": "glycogen storage disease V", "MONDO:0009294": "glycogen storage disease VI", "MONDO:0009295": "glycogen storage disease VII", "MONDO:0009297": "familial renal glucosuria", "MONDO:0009299": "46 XX gonadal dysgenesis", "MONDO:0009300": "Perrault syndrome 1", "MONDO:0009302": "XY type gonadal dysgenesis-associated anomalies syndrome", "MONDO:0009303": "anti-glomerular basement membrane disease", "MONDO:0009306": "combined immunodeficiency with skin granulomas", "MONDO:0009312": "lipodystrophy due to peptidic growth factors deficiency", "MONDO:0009313": "Grubben-de Cock-Borghgraef syndrome", "MONDO:0009315": "congenital factor XII deficiency", "MONDO:0009317": "nonphotosensitive trichothiodystrophy", "MONDO:0009318": "Hallermann-Streiff syndrome", "MONDO:0009319": "pantothenate kinase-associated neurodegeneration", "MONDO:0009320": "hall-Riggs syndrome", "MONDO:0009321": "hallux varus-preaxial polysyndactyly syndrome", "MONDO:0009324": "Hartnup disease", "MONDO:0009326": "congenital heart block", "MONDO:0009329": "pulmonary venoocclusive disease 2", "MONDO:0009331": "isolated hemihyperplasia", "MONDO:0009333": "mullerian derivatives-lymphangiectasia-polydactyly syndrome", "MONDO:0009338": "hepatic veno-occlusive disease-immunodeficiency syndrome", "MONDO:0009339": "congenital bile acid synthesis defect 2", "MONDO:0009340": "non-spherocytic hemolytic anemia due to hexokinase deficiency", "MONDO:0009341": "Mowat-Wilson syndrome", "MONDO:0009342": "Hirschsprung disease-deafness-polydactyly syndrome", "MONDO:0009344": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome", "MONDO:0009345": "histidinemia", "MONDO:0009346": "histidinuria due to a renal tubular defect", "MONDO:0009348": "classic Hodgkin lymphoma", "MONDO:0009350": "Holzgreve-Wagner-Rehder syndrome", "MONDO:0009351": "homocarnosinosis", "MONDO:0009352": "classic homocystinuria", "MONDO:0009353": "homocystinuria due to methylene tetrahydrofolate reductase deficiency", "MONDO:0009354": "methylcobalamin deficiency type cblE", "MONDO:0009359": "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome", "MONDO:0009362": "growth delay-hydrocephaly-lung hypoplasia syndrome", "MONDO:0009363": "hydrocephaly-tall stature-joint laxity syndrome", "MONDO:0009366": "normal pressure hydrocephalus", "MONDO:0009367": "McKusick-Kaufman syndrome", "MONDO:0009369": "non-immune hydrops fetalis", "MONDO:0009370": "L-2-hydroxyglutaric aciduria", "MONDO:0009371": "3-hydroxyisobutyric aciduria", "MONDO:0009372": "encephalopathy due to hydroxykynureninuria", "MONDO:0009373": "seizures-intellectual disability due to hydroxylysinuria syndrome", "MONDO:0009376": "carbamoyl phosphate synthetase I deficiency disease", "MONDO:0009377": "hyperammonemia due to N-acetylglutamate synthase deficiency", "MONDO:0009378": "hyper-beta-alaninemia", "MONDO:0009379": "Rotor syndrome", "MONDO:0009380": "Dubin-Johnson syndrome", "MONDO:0009383": "transient familial neonatal hyperbilirubinemia", "MONDO:0009387": "familial lipoprotein lipase deficiency", "MONDO:0009388": "hyperlysinemia (disease)", "MONDO:0009393": "ornithine translocase deficiency", "MONDO:0009394": "juvenile Paget disease", "MONDO:0009395": "hyperostosis corticalis generalisata", "MONDO:0009397": "neonatal severe primary hyperparathyroidism", "MONDO:0009400": "hyperprolinemia type 1", "MONDO:0009401": "hyperprolinemia type 2", "MONDO:0009402": "hypertelorism-hypospadias-polysyndactyly syndrome", "MONDO:0009404": "hypertelorism, microtia, facial clefting syndrome", "MONDO:0009405": "cervical hypertrichosis-peripheral neuropathy syndrome", "MONDO:0009406": "hypertrichotic osteochondrodysplasia Cantu type", "MONDO:0009411": "autoimmune polyendocrine syndrome type 1", "MONDO:0009414": "glycogen storage disease due to hepatic glycogen synthase deficiency", "MONDO:0009416": "hypoinsulinemic hypoglycemia and body hemihypertrophy", "MONDO:0009417": "hypergonadotropic hypogonadism-cataract syndrome", "MONDO:0009419": "Woodhouse-Sakati syndrome", "MONDO:0009420": "primary hypergonadotropic hypogonadism-partial alopecia syndrome", "MONDO:0009424": "Bartter disease type 2", "MONDO:0009425": "hypomandibular faciocranial dysostosis", "MONDO:0009426": "hypoparathyroidism-retardation-dysmorphism syndrome", "MONDO:0009427": "infantile hypophosphatasia", "MONDO:0009428": "childhood hypophosphatasia", "MONDO:0009431": "hereditary hypophosphatemic rickets with hypercalciuria", "MONDO:0009435": "hypospadias-intellectual disability, Goldblatt type syndrome", "MONDO:0009436": "congenital hypothalamic hamartoma syndrome", "MONDO:0009437": "Bamforth-Lazarus syndrome", "MONDO:0009443": "autosomal recessive congenital ichthyosis 4B", "MONDO:0009444": "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome", "MONDO:0009445": "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome", "MONDO:0009446": "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome", "MONDO:0009448": "iminoglycinuria", "MONDO:0009451": "Nezelof syndrome", "MONDO:0009452": "Vici syndrome", "MONDO:0009458": "Schimke immuno-osseous dysplasia", "MONDO:0009459": "channelopathy-associated congenital insensitivity to pain, autosomal recessive", "MONDO:0009461": "male infertility due to large-headed multiflagellar polyploid spermatozoa", "MONDO:0009465": "multiple intestinal atresia", "MONDO:0009467": "natal teeth-intestinal pseudoobstruction-patent ductus syndrome", "MONDO:0009468": "pseudotumor cerebri", "MONDO:0009469": "benign recurrent intrahepatic cholestasis type 1", "MONDO:0009473": "isotretinoin-like syndrome", "MONDO:0009475": "isovaleric acidemia", "MONDO:0009476": "atresia of small intestine", "MONDO:0009477": "Stromme syndrome", "MONDO:0009478": "combined immunodeficiency due to DOCK8 deficiency", "MONDO:0009479": "Johanson-Blizzard syndrome", "MONDO:0009480": "Joubert syndrome with oculorenal defect", "MONDO:0009483": "kapur-Toriello syndrome", "MONDO:0009484": "primary ciliary dyskinesia 1", "MONDO:0009485": "oculocerebrofacial syndrome, Kaufman type", "MONDO:0009486": "autosomal recessive Kenny-Caffey syndrome", "MONDO:0009489": "hereditary palmoplantar keratoderma, Gamborg-Nielsen type", "MONDO:0009490": "Papillon-Lefevre disease", "MONDO:0009491": "Haim-Munk syndrome", "MONDO:0009492": "succinyl-CoA:3-ketoacid CoA transferase deficiency", "MONDO:0009493": "Richards-Rundle syndrome", "MONDO:0009495": "Keutel syndrome", "MONDO:0009498": "lethal Kniest-like dysplasia", "MONDO:0009499": "Krabbe disease", "MONDO:0009501": "metabolic myopathy due to lactate transporter defect", "MONDO:0009502": "pyruvate dehydrogenase E2 deficiency", "MONDO:0009503": "pyruvate dehydrogenase E3-binding protein deficiency", "MONDO:0009504": "mitochondrial DNA depletion syndrome 9", "MONDO:0009506": "specific granule deficiency", "MONDO:0009507": "Lambert syndrome", "MONDO:0009509": "Landau-Kleffner syndrome", "MONDO:0009511": "Larsen-like syndrome, B3GAT3 type", "MONDO:0009512": "lethal Larsen-like syndrome", "MONDO:0009513": "laryngo-onycho-cutaneous syndrome", "MONDO:0009514": "Laurence-Moon syndrome", "MONDO:0009515": "Norum disease", "MONDO:0009516": "absence deformity of leg-cataract syndrome", "MONDO:0009517": "Donohue syndrome", "MONDO:0009519": "letterer-Siwe disease", "MONDO:0009520": "3-hydroxy-3-methylglutaric aciduria", "MONDO:0009522": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome", "MONDO:0009523": "Lichtenstein syndrome", "MONDO:0009524": "intellectual disability-spasticity-ectrodactyly syndrome", "MONDO:0009525": "split hand-foot malformation 3", "MONDO:0009526": "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome", "MONDO:0009527": "lipase deficiency, combined", "MONDO:0009528": "chylomicron retention disease", "MONDO:0009529": "pyruvate dehydrogenase E3 deficiency", "MONDO:0009530": "lipoid proteinosis", "MONDO:0009532": "Miller-Dieker lissencephaly syndrome", "MONDO:0009533": "Dahlberg-borer-Newcomer syndrome", "MONDO:0009537": "lymphoid interstitial pneumonia", "MONDO:0009543": "prominent glabella-microcephaly-hypogenitalism syndrome", "MONDO:0009547": "macrosomia-microphthalmia-cleft palate syndrome", "MONDO:0009548": "renal hypomagnesemia 5 with ocular involvement", "MONDO:0009549": "severe early-childhood-onset retinal dystrophy", "MONDO:0009550": "renal hypomagnesemia 3", "MONDO:0009552": "mal de Meleda", "MONDO:0009554": "3MC syndrome 3", "MONDO:0009556": "malonic aciduria", "MONDO:0009557": "mandibuloacral dysplasia with type A lipodystrophy", "MONDO:0009560": "oculotrichoanal syndrome", "MONDO:0009561": "alpha-mannosidosis", "MONDO:0009562": "beta-mannosidosis", "MONDO:0009563": "maple syrup urine disease", "MONDO:0009564": "Marden-Walker syndrome", "MONDO:0009565": "microcephaly-glomerulonephritis-marfanoid habitus syndrome", "MONDO:0009566": "marfanoid habitus-autosomal recessive intellectual disability syndrome", "MONDO:0009567": "Marinesco-Sjogren syndrome", "MONDO:0009568": "mast syndrome", "MONDO:0009569": "Hennekam-Beemer syndrome", "MONDO:0009570": "McDonough syndrome", "MONDO:0009575": "thiamine-responsive megaloblastic anemia syndrome", "MONDO:0009577": "megalocornea-intellectual disability syndrome", "MONDO:0009578": "neurocutaneous melanocytosis", "MONDO:0009579": "Frank-Ter Haar syndrome", "MONDO:0009581": "intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome", "MONDO:0009582": "Mietens syndrome", "MONDO:0009583": "blepharophimosis - intellectual disability syndrome, Ohdo type", "MONDO:0009584": "intellectual disability, Buenos-Aires type", "MONDO:0009585": "encephalopathy due to beta-mercaptolactate-cysteine disulfiduria", "MONDO:0009588": "Langer mesomelic dysplasia", "MONDO:0009589": "mesomelic dwarfism-cleft palate-camptodactyly syndrome", "MONDO:0009591": "metachromatic leukodystrophy, juvenile form", "MONDO:0009592": "metaphyseal acroscyphodysplasia", "MONDO:0009593": "spondylometaphyseal dysplasia, Sedaghatian type", "MONDO:0009594": "metaphyseal chondrodysplasia, Kaitila type", "MONDO:0009595": "cartilage-hair hypoplasia", "MONDO:0009597": "metaphyseal chondrodysplasia, Spahr type", "MONDO:0009598": "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome", "MONDO:0009599": "metaphyseal dysostosis-intellectual disability-conductive deafness syndrome", "MONDO:0009601": "metaphyseal dysplasia without hypotrichosis", "MONDO:0009603": "3-hydroxyisobutyryl-CoA hydrolase deficiency", "MONDO:0009607": "methionine adenosyltransferase deficiency", "MONDO:0009609": "methylcobalamin deficiency type cblG", "MONDO:0009610": "3-methylglutaconic aciduria type 1", "MONDO:0009611": "3-methylglutaconic aciduria type 4", "MONDO:0009612": "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency", "MONDO:0009613": "vitamin B12-responsive methylmalonic acidemia type cblA", "MONDO:0009614": "vitamin B12-responsive methylmalonic acidemia type cblB", "MONDO:0009615": "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "MONDO:0009616": "microcephalic primordial dwarfism, Toriello type", "MONDO:0009617": "microcephaly 1, primary, autosomal recessive", "MONDO:0009618": "microcephaly-cardiomyopathy syndrome", "MONDO:0009619": "microcephaly-micromelia syndrome", "MONDO:0009620": "Say-Barber-Miller syndrome", "MONDO:0009621": "microcephaly-cervical spine fusion anomalies syndrome", "MONDO:0009622": "Jawad syndrome", "MONDO:0009623": "Nijmegen breakage syndrome", "MONDO:0009624": "microcephaly and chorioretinopathy 1", "MONDO:0009626": "pseudo-TORCH syndrome", "MONDO:0009627": "Galloway-Mowat syndrome", "MONDO:0009635": "microvillus inclusion disease", "MONDO:0009636": "mitochondrial DNA depletion syndrome 3", "MONDO:0009637": "inborn mitochondrial myopathy", "MONDO:0009642": "orofaciodigital syndrome type II", "MONDO:0009643": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A", "MONDO:0009644": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B", "MONDO:0009648": "peripheral motor neuropathy-dysautonomia syndrome", "MONDO:0009650": "mucolipidosis type II", "MONDO:0009652": "mucolipidosis type III gamma", "MONDO:0009653": "mucolipidosis type IV", "MONDO:0009655": "Sanfilippo syndrome type A", "MONDO:0009656": "Sanfilippo syndrome type B", "MONDO:0009657": "Sanfilippo syndrome type C", "MONDO:0009658": "Sanfilippo syndrome type D", "MONDO:0009659": "mucopolysaccharidosis type 4A", "MONDO:0009660": "mucopolysaccharidosis type 4B", "MONDO:0009661": "mucopolysaccharidosis type 6", "MONDO:0009662": "mucopolysaccharidosis type 7", "MONDO:0009664": "mulibrey nanism", "MONDO:0009665": "biotinidase deficiency", "MONDO:0009666": "holocarboxylase synthetase deficiency", "MONDO:0009668": "lethal multiple pterygium syndrome", "MONDO:0009669": "Werdnig-Hoffmann disease", "MONDO:0009670": "lethal congenital contracture syndrome 1", "MONDO:0009671": "intellectual disability-myopathy-short stature-endocrine defect syndrome", "MONDO:0009672": "juvenile spinal muscular atrophy", "MONDO:0009673": "intermediate spinal muscular atrophy", "MONDO:0009675": "autosomal recessive limb-girdle muscular dystrophy type 2A", "MONDO:0009676": "autosomal recessive limb-girdle muscular dystrophy type 2B", "MONDO:0009677": "autosomal recessive limb-girdle muscular dystrophy type 2C", "MONDO:0009678": "Fukuyama congenital muscular dystrophy", "MONDO:0009679": "arthrogryposis due to muscular dystrophy", "MONDO:0009680": "congenital muscular dystrophy-infantile cataract-hypogonadism syndrome", "MONDO:0009683": "autosomal recessive limb-girdle muscular dystrophy type 2H", "MONDO:0009685": "Miyoshi myopathy", "MONDO:0009688": "myasthenia gravis", "MONDO:0009691": "mycosis fungoides", "MONDO:0009692": "primary myelofibrosis", "MONDO:0009693": "plasma cell myeloma", "MONDO:0009694": "myeloperoxidase deficiency", "MONDO:0009696": "juvenile myoclonic epilepsy", "MONDO:0009697": "Lafora disease", "MONDO:0009698": "Unverricht-Lundborg syndrome", "MONDO:0009699": "action myoclonus-renal failure syndrome", "MONDO:0009704": "carnitine palmitoyl transferase II deficiency, myopathic form", "MONDO:0009705": "carnitine palmitoyl transferase 1A deficiency", "MONDO:0009706": "hereditary myopathy with lactic acidosis due to ISCU deficiency", "MONDO:0009708": "myopathy, myosin storage, autosomal recessive", "MONDO:0009710": "myotonia congenita", "MONDO:0009711": "congenital fiber-type disproportion myopathy", "MONDO:0009712": "congenital multicore myopathy with external ophthalmoplegia", "MONDO:0009714": "myosclerosis", "MONDO:0009716": "Richieri Costa-da Silva syndrome", "MONDO:0009717": "Schwartz-Jampel syndrome", "MONDO:0009719": "familial atrial myxoma", "MONDO:0009720": "Keipert syndrome", "MONDO:0009721": "Nathalie syndrome", "MONDO:0009722": "Native American myopathy", "MONDO:0009723": "Leigh syndrome", "MONDO:0009724": "nail-patella-like renal disease", "MONDO:0009726": "proteosome-associated autoinflammatory syndrome", "MONDO:0009727": "atelosteogenesis type II", "MONDO:0009728": "nephronophthisis 1", "MONDO:0009729": "nephropathy - deafness - hyperparathyroidism syndrome", "MONDO:0009731": "nephrosis-deafness-urinary tract-digital malformations syndrome", "MONDO:0009732": "congenital nephrotic syndrome, Finnish type", "MONDO:0009735": "Netherton syndrome", "MONDO:0009736": "Neu-Laxova syndrome 1", "MONDO:0009737": "galactosialidosis", "MONDO:0009738": "sialidosis type 2", "MONDO:0009740": "neurofaciodigitorenal syndrome", "MONDO:0009742": "neuroectodermal melanolysosomal disease", "MONDO:0009744": "neuronal ceroid lipofuscinosis 1", "MONDO:0009745": "neuronal ceroid lipofuscinosis 5", "MONDO:0009746": "hereditary sensory and autonomic neuropathy type 4", "MONDO:0009747": "Navajo neurohepatopathy", "MONDO:0009748": "hereditary sensory and autonomic neuropathy with spastic paraplegia", "MONDO:0009749": "giant axonal neuropathy 1", "MONDO:0009755": "neutrophil actin dysfunction", "MONDO:0009756": "Niemann-Pick disease type A", "MONDO:0009760": "Norman-Roberts syndrome", "MONDO:0009761": "cystic hygroma", "MONDO:0009764": "ocular motor apraxia, Cogan type", "MONDO:0009766": "oculocerebral hypopigmentation syndrome of Preus", "MONDO:0009767": "oculocerebral hypopigmentation syndrome, Cross type", "MONDO:0009769": "oculo-palato-cerebral syndrome", "MONDO:0009770": "3MC syndrome 1", "MONDO:0009771": "oculotrichodysplasia", "MONDO:0009772": "oculorenocerebellar syndrome", "MONDO:0009773": "odonto-onycho-dermal dysplasia", "MONDO:0009774": "cloacal exstrophy (disease)", "MONDO:0009777": "Oliver syndrome", "MONDO:0009779": "autosomal recessive omodysplasia", "MONDO:0009780": "lethal omphalocele-cleft palate syndrome", "MONDO:0009781": "Onychotrichodysplasia and neutropenia", "MONDO:0009785": "opsismodysplasia", "MONDO:0009786": "optic atrophy 6", "MONDO:0009787": "3-methylglutaconic aciduria type 3", "MONDO:0009792": "ichthyosis-oral and digital anomalies syndrome", "MONDO:0009793": "orofaciodigital syndrome III", "MONDO:0009794": "orofaciodigital syndrome IV", "MONDO:0009795": "orofaciodigital syndrome IX", "MONDO:0009796": "gyrate atrophy", "MONDO:0009797": "orotic aciduria", "MONDO:0009798": "intellectual disability-cataracts-calcified pinnae-myopathy syndrome", "MONDO:0009801": "familial osteodysplasia, Anderson type", "MONDO:0009803": "congenital osteogenesis imperfecta-microcephaly-cataracts syndrome", "MONDO:0009804": "osteogenesis imperfecta type 3", "MONDO:0009810": "autosomal recessive distal osteolysis syndrome", "MONDO:0009813": "chronic recurrent multifocal osteomyelitis (disease)", "MONDO:0009814": "osteopenia-intellectual disability-sparse hair syndrome", "MONDO:0009818": "autosomal recessive osteopetrosis 3", "MONDO:0009820": "osteoporosis-pseudoglioma syndrome", "MONDO:0009821": "lethal osteosclerotic bone dysplasia", "MONDO:0009822": "otoonychoperoneal syndrome", "MONDO:0009823": "primary hyperoxaluria type 1", "MONDO:0009824": "primary hyperoxaluria type 2", "MONDO:0009825": "5-oxoprolinase deficiency (disease)", "MONDO:0009830": "parkinsonian-pyramidal syndrome", "MONDO:0009832": "pancreatic agenesis", "MONDO:0009833": "Shwachman-Diamond syndrome", "MONDO:0009835": "subacute sclerosing panencephalitis", "MONDO:0009837": "choroid plexus papilloma", "MONDO:0009838": "Parana hard-skin syndrome", "MONDO:0009839": "progressive supranuclear palsy-parkinsonism syndrome", "MONDO:0009840": "Partington-Anderson syndrome", "MONDO:0009841": "PEHO syndrome", "MONDO:0009843": "hypomyelinating leukodystrophy 3", "MONDO:0009844": "pellagra-like syndrome", "MONDO:0009845": "pelviscapular dysplasia", "MONDO:0009846": "pentosuria", "MONDO:0009848": "dissecting cellulitis of the scalp", "MONDO:0009849": "hyperimmunoglobulinemia D with periodic fever", "MONDO:0009852": "congenital intrinsic factor deficiency", "MONDO:0009853": "Imerslund-Grasbeck syndrome", "MONDO:0009855": "d-bifunctional protein deficiency", "MONDO:0009856": "Peters plus syndrome", "MONDO:0009857": "persistent Mullerian duct syndrome", "MONDO:0009858": "Pfeiffer-Palm-Teller syndrome", "MONDO:0009859": "PHAVER syndrome", "MONDO:0009861": "phenylketonuria", "MONDO:0009862": "dihydropteridine reductase deficiency", "MONDO:0009863": "BH4-deficient hyperphenylalaninemia A", "MONDO:0009864": "phosphoenolpyruvate carboxykinase deficiency, mitochondrial", "MONDO:0009865": "glycogen storage disease due to phosphoglycerate mutase deficiency", "MONDO:0009866": "phosphoenolpyruvate carboxykinase deficiency, cytosolic", "MONDO:0009867": "lethal congenital glycogen storage disease of heart", "MONDO:0009868": "glycogen storage disease IXb", "MONDO:0009869": "isolated Pierre-Robin syndrome", "MONDO:0009870": "pili torti (disease)", "MONDO:0009871": "pili torti-developmental delay-neurological abnormalities syndrome", "MONDO:0009872": "Bjornstad syndrome", "MONDO:0009873": "pilodental dysplasia-refractive errors syndrome", "MONDO:0009874": "Rabson-Mendenhall syndrome", "MONDO:0009876": "isolated growth hormone deficiency type IA", "MONDO:0009877": "Laron syndrome", "MONDO:0009879": "short stature due to growth hormone qualitative anomaly", "MONDO:0009880": "short stature-pituitary and cerebellar defects-small sella turcica syndrome", "MONDO:0009883": "alpha-2-plasmin inhibitor deficiency", "MONDO:0009885": "Scott syndrome", "MONDO:0009887": "desquamative interstitial pneumonia", "MONDO:0009889": "autosomal recessive polycystic kidney disease", "MONDO:0009891": "acquired polycythemia vera", "MONDO:0009892": "Chuvash polycythemia", "MONDO:0009895": "postaxial polydactyly-dental and vertebral anomalies syndrome", "MONDO:0009897": "adult polyglucosan body disease", "MONDO:0009900": "polysyndactyly-cardiac malformation syndrome", "MONDO:0009901": "Bartsocas-Papas syndrome", "MONDO:0009902": "cutaneous porphyria", "MONDO:0009903": "postaxial acrofacial dysostosis", "MONDO:0009904": "Gitelman syndrome", "MONDO:0009905": "urban-Rogers-Meyer syndrome", "MONDO:0009908": "dehydratase deficiency", "MONDO:0009910": "Wiedemann-Rautenstrauch syndrome", "MONDO:0009914": "pseudodiastrophic dysplasia", "MONDO:0009915": "46,XX disorder of sex development-skeletal anomalies syndrome", "MONDO:0009916": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "MONDO:0009917": "autosomal recessive pseudohypoaldosteronism type 1", "MONDO:0009919": "peroxisomal acyl-CoA oxidase deficiency", "MONDO:0009920": "Acrootoocular syndrome", "MONDO:0009921": "holoprosencephaly-postaxial polydactyly syndrome", "MONDO:0009923": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency", "MONDO:0009924": "vitamin D-dependent rickets, type 1", "MONDO:0009925": "inherited pseudoxanthoma elasticum", "MONDO:0009926": "autosomal recessive multiple pterygium syndrome", "MONDO:0009927": "3MC syndrome 2", "MONDO:0009928": "pulmonary alveolar microlithiasis", "MONDO:0009929": "neonatal acute respiratory distress due to SP-B deficiency", "MONDO:0009930": "pulmonary arteriovenous malformation (disease)", "MONDO:0009931": "pulmonary atresia-intact ventricular septum syndrome", "MONDO:0009933": "congenital pulmonary lymphangiectasia", "MONDO:0009934": "congenital alveolar capillary dysplasia", "MONDO:0009936": "familial primary pulmonary hypoplasia", "MONDO:0009937": "pulmonary venoocclusive disease", "MONDO:0009940": "pycnodysostosis", "MONDO:0009942": "pyknoachondrogenesis", "MONDO:0009943": "Pyle disease", "MONDO:0009945": "pyridoxine-dependent epilepsy", "MONDO:0009946": "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency", "MONDO:0009947": "glutathione synthetase deficiency with 5-oxoprolinuria", "MONDO:0009948": "pyropoikilocytosis, hereditary", "MONDO:0009949": "pyruvate carboxylase deficiency disease", "MONDO:0009950": "pyruvate kinase deficiency of red cells", "MONDO:0009952": "radioulnar synostosis-developmental delay-hypotonia syndrome", "MONDO:0009953": "leukocyte adhesion deficiency type II", "MONDO:0009954": "Ramon syndrome", "MONDO:0009955": "rapadilino syndrome", "MONDO:0009958": "adult Refsum disease", "MONDO:0009963": "Ulbright-Hodes syndrome", "MONDO:0009964": "short-rib thoracic dysplasia 9 with or without polydactyly", "MONDO:0009965": "Perlman syndrome", "MONDO:0009966": "NPHP3-related Meckel-like syndrome", "MONDO:0009968": "renal tubular acidosis, distal, with progressive nerve deafness", "MONDO:0009969": "renal-genital-middle ear anomalies", "MONDO:0009970": "renal tubular dysgenesis of genetic origin", "MONDO:0009971": "newborn respiratory distress syndrome", "MONDO:0009973": "reticular dysgenesis", "MONDO:0009975": "reticulum cell sarcoma", "MONDO:0009978": "retinal degeneration-nanophthalmos-glaucoma syndrome", "MONDO:0009979": "reticular dystrophy of the retinal pigment epithelium", "MONDO:0009983": "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome", "MONDO:0009985": "retinohepatoendocrinologic syndrome", "MONDO:0009986": "retinopathy, pigmentary, and mental retardation", "MONDO:0009990": "Revesz syndrome", "MONDO:0009993": "embryonal rhabdomyosarcoma (disease)", "MONDO:0009994": "alveolar rhabdomyosarcoma (disease)", "MONDO:0009996": "rhizomelic syndrome, Urbach type", "MONDO:0009998": "Richieri Costa-Pereira syndrome", "MONDO:0009999": "autosomal recessive Robinow syndrome", "MONDO:0010001": "ectodermal dysplasia-blindness syndrome", "MONDO:0010002": "Rothmund-Thomson syndrome", "MONDO:0010004": "EEC syndrome", "MONDO:0010005": "saccharopinuria", "MONDO:0010006": "Sandhoff disease", "MONDO:0010007": "microbrachycephaly-ptosis-cleft lip syndrome", "MONDO:0010008": "sarcosinemia", "MONDO:0010010": "Schinzel-Giedion syndrome", "MONDO:0010011": "schizencephaly", "MONDO:0010012": "autoimmune polyendocrinopathy type 2", "MONDO:0010013": "schneckenbecken dysplasia", "MONDO:0010014": "craniometadiaphyseal dysplasia, wormian bone type", "MONDO:0010015": "anterior segment dysgenesis 7", "MONDO:0010017": "sea-blue histiocyte syndrome", "MONDO:0010023": "combined immunodeficiency due to ZAP70 deficiency", "MONDO:0010024": "Beemer-Langer syndrome", "MONDO:0010026": "SHORT syndrome", "MONDO:0010027": "free sialic acid storage disease, infantile form", "MONDO:0010028": "sialuria", "MONDO:0010029": "situs inversus", "MONDO:0010030": "Sjogren syndrome", "MONDO:0010031": "Sjogren-Larsson syndrome", "MONDO:0010033": "generalized peeling skin syndrome", "MONDO:0010035": "Smith-Lemli-Opitz syndrome", "MONDO:0010038": "growth delay due to insulin-like growth factor I resistance", "MONDO:0010039": "congenital heart defect-round face-developmental delay syndrome", "MONDO:0010041": "Charlevoix-Saguenay spastic ataxia", "MONDO:0010043": "hereditary spastic paraplegia 17", "MONDO:0010044": "hereditary spastic paraplegia 15", "MONDO:0010045": "paraplegia-brachydactyly-cone-shaped epiphysis syndrome", "MONDO:0010046": "hereditary spastic paraplegia 23", "MONDO:0010047": "hereditary spastic paraplegia 5A", "MONDO:0010049": "spastic paraplegia-glaucoma-intellectual disability syndrome", "MONDO:0010051": "spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome", "MONDO:0010056": "adult spinal muscular atrophy", "MONDO:0010060": "infantile onset spinocerebellar ataxia", "MONDO:0010061": "autosomal recessive cerebellar ataxia-blindness-deafness syndrome", "MONDO:0010062": "spinocerebellar ataxia-dysmorphism syndrome", "MONDO:0010063": "corneal-cerebellar syndrome", "MONDO:0010064": "spastic ataxia-corneal dystrophy syndrome", "MONDO:0010066": "familial isolated congenital asplenia", "MONDO:0010068": "spondyloepimetaphyseal dysplasia, sponastrime type", "MONDO:0010069": "spondylocostal dysostosis-anal and genitourinary malformations syndrome", "MONDO:0010070": "BCYM1A", "MONDO:0010073": "spondyloepiphyseal dysplasia tarda, Kohn type", "MONDO:0010074": "BCYM1B", "MONDO:0010075": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures", "MONDO:0010076": "spondyloepimetaphyseal dysplasia, Irapa type", "MONDO:0010077": "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome", "MONDO:0010078": "spondyloperipheral dysplasia-short ulna syndrome", "MONDO:0010079": "Canavan disease", "MONDO:0010080": "familial infantile bilateral striatal necrosis", "MONDO:0010082": "subaortic stenosis-short stature syndrome", "MONDO:0010083": "succinic semialdehyde dehydrogenase deficiency", "MONDO:0010085": "Schilder disease", "MONDO:0010087": "Sugarman brachydactyly", "MONDO:0010088": "mucosulfatidosis", "MONDO:0010089": "isolated sulfite oxidase deficiency", "MONDO:0010090": "Summitt syndrome", "MONDO:0010091": "Crisponi syndrome", "MONDO:0010092": "Filippi syndrome", "MONDO:0010093": "syndesmodysplasic dwarfism", "MONDO:0010094": "spondylocarpotarsal synostosis syndrome", "MONDO:0010095": "ataxia-tapetoretinal degeneration syndrome", "MONDO:0010098": "taurodontism (disease)", "MONDO:0010099": "Tay-Sachs disease AB variant", "MONDO:0010100": "Tay-Sachs disease", "MONDO:0010101": "Teebi-Shaltout syndrome", "MONDO:0010102": "taurodontia-absent teeth-sparse hair syndrome", "MONDO:0010104": "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome", "MONDO:0010108": "testicular germ cell tumor", "MONDO:0010110": "tetraamelia-multiple malformations syndrome", "MONDO:0010111": "odontotrichomelic syndrome", "MONDO:0010112": "thalamic degeneration, symmetric infantile", "MONDO:0010114": "thanatophoric dysplasia, Glasgow variant", "MONDO:0010115": "thoracic dysplasia-hydrocephalus syndrome", "MONDO:0010116": "thoracomelic dysplasia", "MONDO:0010121": "thrombocytopenia-absent radius syndrome", "MONDO:0010122": "congenital thrombotic thrombocytopenic purpura", "MONDO:0010123": "absent thumb-short stature-immunodeficiency syndrome", "MONDO:0010125": "upper limb defect-eye and ear abnormalities syndrome", "MONDO:0010128": "thyrocerebrorenal syndrome", "MONDO:0010129": "thymic-renal-anal-lung dysplasia", "MONDO:0010130": "dihydropyrimidine dehydrogenase deficiency", "MONDO:0010132": "familial thyroid dyshormonogenesis", "MONDO:0010134": "Pendred syndrome", "MONDO:0010139": "isolated thyroid-stimulating hormone deficiency", "MONDO:0010140": "isolated thyrotropin-releasing hormone deficiency", "MONDO:0010142": "hypothyroidism due to TSH receptor mutations", "MONDO:0010144": "tibial hemimelia", "MONDO:0010146": "Kerion celsi", "MONDO:0010148": "Mounier-Kuhn syndrome", "MONDO:0010149": "transcobalamin II deficiency", "MONDO:0010150": "head and neck squamous cell carcinoma", "MONDO:0010152": "trichomegaly-retina pigmentary degeneration-dwarfism syndrome", "MONDO:0010153": "trichoodontoonychial dysplasia", "MONDO:0010154": "trigonocephaly-bifid nose-acral anomalies syndrome", "MONDO:0010155": "Dorfman-Chanarin disease", "MONDO:0010156": "Troyer syndrome", "MONDO:0010160": "tyrosinemia type II", "MONDO:0010161": "tyrosinemia type I", "MONDO:0010162": "tyrosinemia type III", "MONDO:0010164": "phocomelia, Schinzel type", "MONDO:0010165": "ulna hypoplasia-intellectual disability syndrome", "MONDO:0010167": "urocanic aciduria (disease)", "MONDO:0010168": "Usher syndrome type 1", "MONDO:0010172": "VACTERL with hydrocephalus", "MONDO:0010173": "Mayer-Rokitansky-Kuster-Hauser syndrome type 1", "MONDO:0010176": "orofaciodigital syndrome type 6", "MONDO:0010177": "retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome", "MONDO:0010179": "isolated right ventricular hypoplasia", "MONDO:0010180": "autosomal recessive spondylocostal dysostosis", "MONDO:0010181": "oculogastrointestinal muscular dystrophy", "MONDO:0010183": "methylmalonic aciduria and homocystinuria type cblF", "MONDO:0010184": "methylmalonic aciduria and homocystinuria type cblC", "MONDO:0010185": "methylmalonic aciduria and homocystinuria type cblD", "MONDO:0010188": "familial isolated deficiency of vitamin E", "MONDO:0010191": "von Willebrand disease 3", "MONDO:0010193": "Weaver syndrome", "MONDO:0010196": "Werner syndrome", "MONDO:0010199": "white forelock with malformations", "MONDO:0010200": "Wilson disease", "MONDO:0010203": "intellectual disability, Wolff type", "MONDO:0010207": "woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome", "MONDO:0010208": "wrinkly skin syndrome", "MONDO:0010209": "xanthinuria type I", "MONDO:0010210": "xeroderma pigmentosum group A", "MONDO:0010211": "xeroderma pigmentosum group C", "MONDO:0010212": "xeroderma pigmentosum group D", "MONDO:0010213": "xeroderma pigmentosum group E", "MONDO:0010214": "xeroderma pigmentosum variant type", "MONDO:0010215": "xeroderma pigmentosum group F", "MONDO:0010216": "xeroderma pigmentosum group G", "MONDO:0010217": "de Sanctis-Cacchione syndrome", "MONDO:0010220": "young syndrome", "MONDO:0010221": "CHIME syndrome", "MONDO:0010222": "X-linked Opitz G/BBB syndrome", "MONDO:0010224": "corpus callosum agenesis-abnormal genitalia syndrome", "MONDO:0010225": "Dent disease type 1", "MONDO:0010235": "X-linked intellectual disability-psychosis-macroorchidism syndrome", "MONDO:0010237": "X-linked intellectual disability-plagiocephaly syndrome", "MONDO:0010239": "lissencephaly type 1 due to doublecortin gene mutation", "MONDO:0010243": "X-linked immunoneurologic disorder", "MONDO:0010246": "early infantile epileptic encephalopathy 9", "MONDO:0010247": "X-linked cerebral adrenoleukodystrophy", "MONDO:0010248": "X-linked spondyloepimetaphyseal dysplasia", "MONDO:0010250": "MRX49", "MONDO:0010258": "MEHMO syndrome", "MONDO:0010261": "microphthalmia, syndromic 2", "MONDO:0010263": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome", "MONDO:0010264": "X-linked adrenal hypoplasia congenita", "MONDO:0010265": "Simpson-Golabi-Behmel syndrome type 2", "MONDO:0010268": "X-linked lissencephaly with abnormal genitalia", "MONDO:0010269": "Coats disease", "MONDO:0010270": "syndromic X-linked intellectual disability 7", "MONDO:0010271": "X-linked myotubular myopathy-abnormal genitalia syndrome", "MONDO:0010275": "spondyloepimetaphyseal dysplasia, Bieganski type", "MONDO:0010277": "syndromic X-linked intellectual disability Shashi type", "MONDO:0010278": "Christianson syndrome", "MONDO:0010279": "terminal osseous dysplasia-pigmentary defects syndrome", "MONDO:0010281": "Danon disease", "MONDO:0010283": "syndromic X-linked intellectual disability Lubs type", "MONDO:0010284": "Armfield syndrome", "MONDO:0010285": "syndromic X-linked intellectual disability Abidi type", "MONDO:0010286": "syndromic X-linked intellectual disability Siderius type", "MONDO:0010287": "hereditary spastic paraplegia 16", "MONDO:0010288": "adrenomyodystrophy", "MONDO:0010293": "hypohidrotic ectodermal dysplasia with immunodeficiency", "MONDO:0010294": "X-linked severe congenital neutropenia", "MONDO:0010295": "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome", "MONDO:0010298": "Lesch-Nyhan syndrome", "MONDO:0010299": "hypoxanthine guanine phosphoribosyltransferase partial deficiency", "MONDO:0010302": "Ito hypomelanosis", "MONDO:0010305": "creatine transporter deficiency", "MONDO:0010306": "X-linked intellectual disability, Cabezas type", "MONDO:0010310": "osteopathia striata with cranial sclerosis", "MONDO:0010311": "Becker muscular dystrophy", "MONDO:0010315": "T-B+ severe combined immunodeficiency due to gamma chain deficiency", "MONDO:0010319": "syndromic X-linked intellectual disability Hedera type", "MONDO:0010323": "Atkin-Flaitz syndrome", "MONDO:0010325": "X-linked intellectual disability, Stocco dos Santos type", "MONDO:0010327": "HSD10 disease", "MONDO:0010328": "alpha-thalassemia-myelodysplastic syndrome", "MONDO:0010330": "primary ciliary dyskinesia-retinitis pigmentosa syndrome", "MONDO:0010332": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome", "MONDO:0010333": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome", "MONDO:0010334": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome", "MONDO:0010336": "orofaciodigital syndrome VIII", "MONDO:0010337": "X-linked intellectual disability-cerebellar hypoplasia syndrome", "MONDO:0010338": "X-linked distal spinal muscular atrophy type 3", "MONDO:0010339": "X-linked epilepsy-learning disabilities-behavior disorders syndrome", "MONDO:0010353": "deafness-intellectual disability, Martin-Probst type syndrome", "MONDO:0010354": "Allan-Herndon-Dudley syndrome", "MONDO:0010355": "syndromic X-linked intellectual disability Claes-Jensen type", "MONDO:0010356": "nephrogenic syndrome of inappropriate antidiuresis", "MONDO:0010359": "Dent disease type 2", "MONDO:0010362": "glycogen storage disease IXd", "MONDO:0010364": "X-linked intellectual disability-retinitis pigmentosa syndrome", "MONDO:0010367": "SHOX-related short stature", "MONDO:0010371": "Aland island eye disease", "MONDO:0010375": "hyperekplexia-epilepsy syndrome", "MONDO:0010378": "X-linked hereditary sensory and autonomic neuropathy with deafness", "MONDO:0010379": "Brunner syndrome", "MONDO:0010382": "fragile X-associated tremor/ataxia syndrome", "MONDO:0010383": "fragile X syndrome", "MONDO:0010385": "X-linked lymphoproliferative syndrome 2", "MONDO:0010386": "immunodeficiency 33", "MONDO:0010389": "X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "MONDO:0010390": "ocular albinism with late-onset sensorineural deafness", "MONDO:0010392": "glycogen storage disease due to phosphoglycerate kinase 1 deficiency", "MONDO:0010395": "phosphoribosylpyrophosphate synthetase superactivity", "MONDO:0010396": "epileptic encephalopathy, early infantile, 2", "MONDO:0010397": "severe neonatal-onset encephalopathy with microcephaly", "MONDO:0010399": "chromosome Xp21 deletion syndrome", "MONDO:0010400": "X-linked scapuloperoneal muscular dystrophy", "MONDO:0010401": "X-linked myopathy with postural muscle atrophy", "MONDO:0010403": "albinism-deafness syndrome", "MONDO:0010404": "X-linked non progressive cerebellar ataxia", "MONDO:0010407": "syndromic X-linked intellectual disability Turner type", "MONDO:0010408": "syndactyly-telecanthus-anogenital and renal malformations syndrome", "MONDO:0010409": "syndromic X-linked intellectual disability Shrimpton type", "MONDO:0010412": "X-linked intellectual disability-craniofacioskeletal syndrome", "MONDO:0010417": "syndromic X-linked intellectual disability Najm type", "MONDO:0010418": "hereditary spastic paraplegia 34", "MONDO:0010420": "X-linked erythropoietic protoporphyria", "MONDO:0010421": "Bruton-type agammaglobulinemia", "MONDO:0010425": "Lisch epithelial corneal dystrophy", "MONDO:0010426": "X-linked endothelial corneal dystrophy", "MONDO:0010428": "chromosome Xp11.23-p11.22 duplication syndrome", "MONDO:0010434": "synovial sarcoma (disease)", "MONDO:0010437": "severe X-linked mitochondrial encephalomyopathy", "MONDO:0010441": "CK syndrome", "MONDO:0010444": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia", "MONDO:0010446": "X-linked cone dysfunction syndrome with myopia", "MONDO:0010448": "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome", "MONDO:0010455": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia", "MONDO:0010457": "Ogden syndrome", "MONDO:0010460": "syndromic X-linked intellectual disability 17", "MONDO:0010461": "syndromic X-linked intellectual disability Nascimento type", "MONDO:0010463": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type", "MONDO:0010464": "X-linked cerebral-cerebellar-coloboma syndrome syndrome", "MONDO:0010466": "multiple congenital anomalies-hypotonia-seizures syndrome 2", "MONDO:0010467": "Xq27.3q28 duplication syndrome", "MONDO:0010472": "ALG13-CDG", "MONDO:0010473": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome", "MONDO:0010475": "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "MONDO:0010476": "neurodegeneration with brain iron accumulation 5", "MONDO:0010477": "blepharophimosis - intellectual disability syndrome, MKB type", "MONDO:0010478": "SLC35A2-CDG", "MONDO:0010479": "Charcot-Marie-Tooth disease X-linked dominant 6", "MONDO:0010480": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "MONDO:0010482": "X-linked parkinsonism-spasticity syndrome", "MONDO:0010483": "X-linked intellectual disability, Cantagrel type", "MONDO:0010485": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome", "MONDO:0010490": "SSR4-CDG", "MONDO:0010491": "X-linked acrogigantism due to Xq26 microduplication", "MONDO:0010496": "X-linked intellectual disability-short stature-overweight syndrome", "MONDO:0010498": "MEND syndrome", "MONDO:0010501": "syndromic X-linked intellectual disability 34", "MONDO:0010503": "Bartter disease type 5", "MONDO:0010505": "intellectual disability-balding-patella luxation-acromicria syndrome", "MONDO:0010507": "Xq25 microduplication syndrome", "MONDO:0010512": "intellectual disability, X-linked, syndromic, bain type", "MONDO:0010514": "combined immunodeficiency due to moesin deficiency", "MONDO:0010518": "Wiskott-Aldrich syndrome", "MONDO:0010519": "alpha thalassemia-X-linked intellectual disability syndrome", "MONDO:0010520": "X-linked Alport syndrome", "MONDO:0010523": "X-linked reticulate pigmentary disorder", "MONDO:0010524": "X-linked sideroblastic anemia with ataxia", "MONDO:0010526": "Fabry disease", "MONDO:0010529": "X-linked spinocerebellar ataxia type 3", "MONDO:0010531": "contractures-ectodermal dysplasia-cleft lip/palate syndrome", "MONDO:0010532": "infantile-onset X-linked spinal muscular atrophy", "MONDO:0010533": "Arts syndrome", "MONDO:0010534": "X-linked spinocerebellar ataxia type 4", "MONDO:0010535": "Bazex-Dupre-Christol syndrome", "MONDO:0010537": "Borjeson-Forssman-Lehmann syndrome", "MONDO:0010538": "Mononen-Karnes-Senac syndrome", "MONDO:0010539": "X-linked mandibulofacial dysostosis", "MONDO:0010540": "bullous dystrophy, macular type", "MONDO:0010541": "X-linked calvarial hyperostosis", "MONDO:0010543": "Barth syndrome", "MONDO:0010545": "Nance-Horan syndrome", "MONDO:0010547": "X-linked progressive cerebellar ataxia", "MONDO:0010549": "Charcot-Marie-Tooth disease X-linked dominant 1", "MONDO:0010550": "Charcot-Marie-Tooth disease X-linked recessive 2", "MONDO:0010551": "Charcot-Marie-Tooth disease X-linked recessive 3", "MONDO:0010554": "Abruzzo-Erickson syndrome", "MONDO:0010555": "X-linked chondrodysplasia punctata 1", "MONDO:0010557": "choroideremia", "MONDO:0010558": "choroideremia-deafness-obesity syndrome", "MONDO:0010559": "MASA syndrome", "MONDO:0010560": "cleft palate with or without ankyloglossia, X-linked", "MONDO:0010561": "Coffin-Lowry syndrome", "MONDO:0010562": "colonic atresia (disease)", "MONDO:0010563": "blue cone monochromacy", "MONDO:0010564": "red-green color blindness", "MONDO:0010565": "red color blindness", "MONDO:0010568": "Aicardi syndrome", "MONDO:0010569": "X-linked complicated corpus callosum dysgenesis", "MONDO:0010570": "craniofrontonasal syndrome", "MONDO:0010571": "otopalatodigital syndrome type 2", "MONDO:0010572": "occipital horn syndrome", "MONDO:0010573": "cutis verticis gyrata, thyroid aplasia, and mental retardation", "MONDO:0010574": "syndromic X-linked intellectual disability 5", "MONDO:0010575": "deafness-hypogonadism syndrome", "MONDO:0010576": "X-linked mixed deafness with perilymphatic gusher", "MONDO:0010578": "deafness dystonia syndrome", "MONDO:0010579": "X-linked corneal dermoid", "MONDO:0010580": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "MONDO:0010585": "X-linked hypohidrotic ectodermal dysplasia", "MONDO:0010586": "X-linked Ehlers-Danlos syndrome", "MONDO:0010590": "FG syndrome 1", "MONDO:0010591": "fingerprint body myopathy", "MONDO:0010592": "focal dermal hypoplasia", "MONDO:0010602": "hemophilia A", "MONDO:0010604": "hemophilia B", "MONDO:0010610": "holoprosencephaly-hypokinesia-congenital contractures syndrome", "MONDO:0010611": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius", "MONDO:0010612": "hydrocephaly-cerebellar agenesis syndrome", "MONDO:0010613": "inborn glycerol kinase deficiency", "MONDO:0010614": "X-linked congenital generalized hypertrichosis", "MONDO:0010615": "isolated growth hormone deficiency type III", "MONDO:0010617": "male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome", "MONDO:0010618": "familial isolated hypoparathyroidism due to agenesis of parathyroid gland", "MONDO:0010619": "X-linked dominant hypophosphatemic rickets", "MONDO:0010621": "child syndrome", "MONDO:0010622": "recessive X-linked ichthyosis", "MONDO:0010623": "ichthyosis and male hypogonadism", "MONDO:0010626": "X-linked hyper-IgM syndrome", "MONDO:0010627": "X-linked lymphoproliferative syndrome", "MONDO:0010631": "incontinentia pigmenti", "MONDO:0010638": "keratosis follicularis-dwarfism-cerebral atrophy syndrome", "MONDO:0010639": "laryngeal abductor paralysis-intellectual disability syndrome", "MONDO:0010641": "X-linked diffuse leiomyomatosis-Alport syndrome", "MONDO:0010645": "oculocerebrorenal syndrome", "MONDO:0010649": "isolated congenital megalocornea", "MONDO:0010650": "Melnick-Needles syndrome", "MONDO:0010651": "Menkes disease", "MONDO:0010652": "X-linked intellectual disability-seizures-psoriasis syndrome", "MONDO:0010653": "Renpenning syndrome", "MONDO:0010654": "Partington syndrome", "MONDO:0010655": "X-linked intellectual disability with marfanoid habitus", "MONDO:0010656": "intellectual disability, X-linked 1", "MONDO:0010657": "methylmalonic acidemia with homocystinuria, type cblX", "MONDO:0010658": "syndromic X-linked intellectual disability 12", "MONDO:0010659": "FRAXE intellectual disability", "MONDO:0010661": "severe X-linked intellectual disability, Gustavson type", "MONDO:0010662": "paraplegia-intellectual disability-hyperkeratosis syndrome", "MONDO:0010663": "X-linked intellectual disability-hypotonic face syndrome", "MONDO:0010664": "syndromic X-linked intellectual disability Snyder type", "MONDO:0010665": "Wilson-Turner syndrome", "MONDO:0010667": "Prieto syndrome", "MONDO:0010668": "skeletal dysplasia-intellectual disability syndrome", "MONDO:0010669": "syndactyly type 8", "MONDO:0010670": "X-linked intellectual disability-spastic quadriparesis syndrome", "MONDO:0010671": "microphthalmia, syndromic 1", "MONDO:0010672": "microphthalmia with linear skin defects syndrome", "MONDO:0010674": "mucopolysaccharidosis type 2", "MONDO:0010679": "Duchenne muscular dystrophy", "MONDO:0010680": "X-linked Emery-Dreifuss muscular dystrophy", "MONDO:0010683": "X-linked centronuclear myopathy", "MONDO:0010684": "X-linked myopathy with excessive autophagy", "MONDO:0010686": "N syndrome", "MONDO:0010689": "Charcot-Marie-Tooth disease X-linked recessive 4", "MONDO:0010691": "Norrie disease", "MONDO:0010698": "optic atrophy 2", "MONDO:0010699": "Charcot-Marie-Tooth disease X-linked recessive 5", "MONDO:0010702": "orofaciodigital syndrome I", "MONDO:0010703": "ornithine carbamoyltransferase deficiency", "MONDO:0010704": "otopalatodigital syndrome type 1", "MONDO:0010706": "premature ovarian failure 1", "MONDO:0010708": "Pallister-W syndrome", "MONDO:0010709": "early-onset parkinsonism-intellectual disability syndrome", "MONDO:0010710": "Pierre Robin syndrome-faciodigital anomaly syndrome", "MONDO:0010711": "tarp syndrome", "MONDO:0010713": "properdin deficiency", "MONDO:0010714": "Pelizaeus-Merzbacher disease", "MONDO:0010716": "X-linked lethal multiple pterygium syndrome", "MONDO:0010717": "pyruvate dehydrogenase E1-alpha deficiency", "MONDO:0010718": "absent radius-anogenital anomalies syndrome", "MONDO:0010720": "partial androgen insensitivity syndrome", "MONDO:0010722": "X-linked retinal dysplasia", "MONDO:0010725": "X-linked retinoschisis", "MONDO:0010726": "Rett syndrome", "MONDO:0010728": "scarf syndrome", "MONDO:0010729": "X-linked intellectual disability, Schimke type", "MONDO:0010731": "Simpson-Golabi-Behmel syndrome", "MONDO:0010732": "spastic paraparesis-deafness syndrome", "MONDO:0010733": "hereditary spastic paraplegia 2", "MONDO:0010735": "Kennedy disease", "MONDO:0010738": "spondylometaphyseal dysplasia, Golden type", "MONDO:0010742": "pentalogy of Cantrell", "MONDO:0010743": "X-linked thrombocytopenia with normal platelets", "MONDO:0010745": "beta-thalassemia-X-linked thrombocytopenia syndrome", "MONDO:0010747": "X-linked dystonia-parkinsonism", "MONDO:0010748": "torticollis-keloids-cryptorchidism-renal dysplasia syndrome", "MONDO:0010749": "trigonocephaly-short stature-developmental delay syndrome", "MONDO:0010750": "ulnar hypoplasia-split foot syndrome", "MONDO:0010753": "cardiac valvular dysplasia, X-linked", "MONDO:0010754": "van den Bosch syndrome", "MONDO:0010758": "intellectual disability-developmental delay-contractures syndrome", "MONDO:0010759": "Wildervanck syndrome", "MONDO:0010765": "46,XY complete gonadal dysgenesis", "MONDO:0010771": "histiocytoid cardiomyopathy", "MONDO:0010773": "myopathy and diabetes mellitus", "MONDO:0010779": "mitochondrial non-syndromic sensorineural deafness", "MONDO:0010780": "mitochondrial myopathy with reversible cytochrome C oxidase deficiency", "MONDO:0010785": "maternally-inherited diabetes and deafness", "MONDO:0010786": "chronic diarrhea with villous atrophy", "MONDO:0010787": "Kearns-Sayre syndrome", "MONDO:0010788": "Leber hereditary optic neuropathy", "MONDO:0010789": "MELAS syndrome", "MONDO:0010790": "MERRF syndrome", "MONDO:0010792": "lethal infantile mitochondrial myopathy", "MONDO:0010794": "NARP syndrome", "MONDO:0010797": "Pearson syndrome", "MONDO:0010798": "proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome", "MONDO:0010799": "mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure", "MONDO:0010801": "spondylocamptodactyly syndrome", "MONDO:0010802": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "MONDO:0010803": "Eiken syndrome", "MONDO:0010805": "bladder exstrophy (disease)", "MONDO:0010808": "fatal familial insomnia", "MONDO:0010813": "pancreatic beta cell agenesis with neonatal diabetes mellitus", "MONDO:0010814": "chondrodysplasia-pseudohermaphroditism syndrome", "MONDO:0010816": "Qazi Markouizos syndrome", "MONDO:0010821": "familial developmental dysphasia", "MONDO:0010823": "rhizomelic chondrodysplasia punctata type 3", "MONDO:0010824": "disorder of sex development-intellectual disability syndrome", "MONDO:0010825": "atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "MONDO:0010826": "childhood absence epilepsy", "MONDO:0010829": "CARASIL", "MONDO:0010830": "neuronal ceroid lipofuscinosis 8", "MONDO:0010831": "familial caudal dysgenesis", "MONDO:0010835": "pterygium colli-intellectual disability-digital anomalies syndrome", "MONDO:0010839": "autosomal dominant congenital benign spinal muscular atrophy", "MONDO:0010840": "pachygyria-intellectual disability-epilepsy syndrome", "MONDO:0010842": "multiple cutaneous and mucosal venous malformations", "MONDO:0010847": "spinocerebellar ataxia type 4", "MONDO:0010848": "spinocerebellar ataxia type 5", "MONDO:0010849": "palmoplantar keratoderma, Bothnian type", "MONDO:0010850": "Tessier number 4 facial cleft", "MONDO:0010851": "Lowry-MacLean syndrome", "MONDO:0010854": "Toriello-Lacassie-Droste syndrome", "MONDO:0010855": "short tarsus-absence of lower eyelashes syndrome", "MONDO:0010856": "autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis", "MONDO:0010857": "semantic dementia", "MONDO:0010858": "macrocephaly-spastic paraplegia-dysmorphism syndrome", "MONDO:0010865": "pseudoaminopterin syndrome", "MONDO:0010866": "infantile osteopetrosis with neuroaxonal dysplasia", "MONDO:0010867": "PARC syndrome", "MONDO:0010870": "tibial muscular dystrophy", "MONDO:0010871": "succinic acidemia", "MONDO:0010876": "recessive aplasia cutis congenita of limbs", "MONDO:0010877": "Charcot-Marie-Tooth disease type 5", "MONDO:0010878": "hereditary spastic paraplegia 6", "MONDO:0010879": "CODAS syndrome", "MONDO:0010881": "mesomelia-synostoses syndrome", "MONDO:0010882": "aphalangy-syndactyly-microcephaly syndrome", "MONDO:0010883": "pectus excavatum-macrocephaly-dysplastic nails syndrome", "MONDO:0010886": "2q37 microdeletion syndrome", "MONDO:0010887": "isolated anterior cervical hypertrichosis", "MONDO:0010889": "arterial dissection-lentiginosis syndrome", "MONDO:0010890": "acrocardiofacial syndrome", "MONDO:0010891": "lethal hemolytic anemia-genital anomalies syndrome", "MONDO:0010895": "ABCD syndrome", "MONDO:0010896": "pigment dispersion syndrome", "MONDO:0010898": "familial temporal lobe epilepsy 1", "MONDO:0010901": "HEC syndrome", "MONDO:0010902": "spondyloepiphyseal dysplasia, Reardon type", "MONDO:0010907": "familial hypertryptophanemia", "MONDO:0010908": "loose anagen syndrome", "MONDO:0010911": "prolactin-producing pituitary gland adenoma", "MONDO:0010913": "Caroli disease", "MONDO:0010914": "carnitine palmitoyl transferase II deficiency, severe infantile form", "MONDO:0010920": "microtia", "MONDO:0010921": "nasal dermoid cyst", "MONDO:0010922": "Satoyoshi syndrome", "MONDO:0010923": "proximal myopathy with focal depletion of mitochondria", "MONDO:0010924": "D-2-hydroxyglutaric aciduria", "MONDO:0010925": "velo-facial-skeletal syndrome", "MONDO:0010926": "familial hypocalciuric hypercalcemia 3", "MONDO:0010930": "anophthalmia plus syndrome", "MONDO:0010932": "progressive bifocal chorioretinal atrophy", "MONDO:0010938": "T-B+ severe combined immunodeficiency due to JAK3 deficiency", "MONDO:0010939": "low phospholipid associated cholelithiasis", "MONDO:0010947": "Budd-Chiari syndrome", "MONDO:0010949": "Charcot-Marie-Tooth disease type 2B", "MONDO:0010952": "hereditary hyperferritinemia with congenital cataracts", "MONDO:0010959": "van den Ende-Gupta syndrome", "MONDO:0010961": "obesity due to prohormone convertase i deficiency", "MONDO:0010962": "diffuse nonepidermolytic palmoplantar keratoderma", "MONDO:0010966": "achondrogenesis type IB", "MONDO:0010971": "infundibulopelvic stenosis-multicystic kidney syndrome", "MONDO:0010972": "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome", "MONDO:0010976": "KRT14-related epidermolysis bullosa simplex", "MONDO:0010977": "Brody myopathy", "MONDO:0010979": "Timothy syndrome", "MONDO:0010980": "midline malformations, multiple, with limb abnormalities and hypopituitarism", "MONDO:0010981": "absent tibia-polydactyly-arachnoid cyst syndrome", "MONDO:0010983": "dystonia 9", "MONDO:0010988": "aplasia cutis-myopia syndrome", "MONDO:0010989": "Mayer-Rokitansky-Küster-Hauser syndrome type 2", "MONDO:0010992": "Ayme-Gripp syndrome", "MONDO:0010993": "Harrod syndrome", "MONDO:0010994": "micromelic dwarfism, Fryns type", "MONDO:0010995": "Charcot-Marie-Tooth disease type 1C", "MONDO:0010997": "classic progressive supranuclear palsy syndrome", "MONDO:0010998": "ALG3-CDG", "MONDO:0010999": "fallot complex-intellectual disability-growth delay syndrome", "MONDO:0011004": "lissencephaly type 3-metacarpal bone dysplasia syndrome", "MONDO:0011006": "hereditary spastic paraplegia 9A", "MONDO:0011007": "diaphragmatic defect-limb deficiency-skull defect syndrome", "MONDO:0011008": "cleft lip/palate-intestinal malrotation-cardiopathy syndrome", "MONDO:0011010": "Matthew-wood syndrome", "MONDO:0011011": "skeletal dysplasia-epilepsy-short stature syndrome", "MONDO:0011012": "African iron overload", "MONDO:0011014": "pleuropulmonary blastoma", "MONDO:0011017": "Naxos disease", "MONDO:0011018": "brachyolmia-amelogenesis imperfecta syndrome", "MONDO:0011019": "alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome", "MONDO:0011020": "osteoporosis-oculocutaneous hypopigmentation syndrome", "MONDO:0011022": "Potocki-Shaffer syndrome", "MONDO:0011023": "hereditary mixed polyposis syndrome", "MONDO:0011025": "Cayman type cerebellar ataxia", "MONDO:0011028": "autosomal recessive limb-girdle muscular dystrophy type 2F", "MONDO:0011034": "odontomicronychial dysplasia", "MONDO:0011035": "neurofibromatosis-Noonan syndrome", "MONDO:0011036": "porencephaly-cerebellar hypoplasia-internal malformations syndrome", "MONDO:0011038": "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome", "MONDO:0011041": "ectodermal dysplasia with natal teeth, Turnpenny type", "MONDO:0011042": "Martinez-Frias syndrome", "MONDO:0011045": "MMEP syndrome", "MONDO:0011046": "short stature, Brussels type", "MONDO:0011047": "deafness-epiphyseal dysplasia-short stature syndrome", "MONDO:0011048": "epilepsy-microcephaly-skeletal dysplasia syndrome", "MONDO:0011049": "fine-Lubinsky syndrome", "MONDO:0011050": "microcephaly-cardiac defect-lung malsegmentation syndrome", "MONDO:0011051": "lethal short-limb skeletal dysplasia, Al Gazali type", "MONDO:0011053": "intellectual disability-sparse hair-brachydactyly syndrome", "MONDO:0011054": "autosomal recessive amelia", "MONDO:0011055": "distal monosomy 10p", "MONDO:0011059": "holoprosencephaly-craniosynostosis syndrome", "MONDO:0011060": "early-onset non-syndromic cataract", "MONDO:0011062": "aprosencephaly cerebellar dysgenesis", "MONDO:0011063": "hidrotic ectodermal dysplasia, Christianson-Fourie type", "MONDO:0011064": "lethal chondrodysplasia, Seller type", "MONDO:0011065": "Hunter-McAlpine craniosynostosis", "MONDO:0011066": "Charcot-Marie-Tooth disease type 4B1", "MONDO:0011071": "hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome", "MONDO:0011073": "diabetes mellitus, transient neonatal, 1", "MONDO:0011076": "myofibrillar myopathy 1", "MONDO:0011078": "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "MONDO:0011079": "rhizomelic dysplasia, Patterson-Lowry type", "MONDO:0011080": "progressive deafness with stapes fixation", "MONDO:0011081": "dislocation of the hip-dysmorphism syndrome", "MONDO:0011082": "oculoauriculofrontonasal syndrome", "MONDO:0011083": "trichodental syndrome", "MONDO:0011085": "Charcot-Marie-Tooth disease type 4D", "MONDO:0011086": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive", "MONDO:0011090": "isolated hereditary congenital facial paralysis", "MONDO:0011091": "Charcot-Marie-Tooth disease type 2D", "MONDO:0011093": "mucopolysaccharidosis type 9", "MONDO:0011096": "autosomal agammaglobulinemia", "MONDO:0011099": "Athabaskan brainstem dysgenesis syndrome", "MONDO:0011106": "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome", "MONDO:0011107": "congenital hypotrichosis with juvenile macular dystrophy", "MONDO:0011109": "multiple epiphyseal dysplasia, Lowry type", "MONDO:0011110": "dyssegmental dysplasia-glaucoma syndrome", "MONDO:0011113": "Charcot-Marie-Tooth disease type 4C", "MONDO:0011114": "familial multiple trichoepithelioma", "MONDO:0011116": "lung agenesis-heart defect-thumb anomalies syndrome", "MONDO:0011118": "bilineal acute myeloid leukemia", "MONDO:0011119": "iridogoniodysgenesis", "MONDO:0011122": "obesity disorder", "MONDO:0011124": "spondyloepimetaphyseal dysplasia-abnormal dentition syndrome", "MONDO:0011125": "trichothiodystrophy 1, photosensitive", "MONDO:0011128": "Sheldon-hall syndrome", "MONDO:0011131": "tricho-oculo-dermo-vertebral syndrome", "MONDO:0011132": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "MONDO:0011133": "deaf blind hypopigmentation syndrome, Yemenite type", "MONDO:0011134": "curry-Jones syndrome", "MONDO:0011136": "Quebec platelet disorder", "MONDO:0011142": "Ehlers-Danlos syndrome, musculocontractural type", "MONDO:0011144": "neuronal ceroid lipofuscinosis 6", "MONDO:0011145": "colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome", "MONDO:0011146": "tetrasomy 12p", "MONDO:0011147": "chromosome 18q deletion syndrome", "MONDO:0011150": "acroosteolysis-keloid-like lesions-premature aging syndrome", "MONDO:0011152": "PHGDH deficiency", "MONDO:0011154": "acrofacial dysostosis, Palagonia type", "MONDO:0011156": "progressive familial intrahepatic cholestasis type 2", "MONDO:0011157": "Gomez-Lopez-Hernandez syndrome", "MONDO:0011166": "lymphedema-atrial septal defects-facial changes syndrome", "MONDO:0011169": "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome", "MONDO:0011170": "autosomal recessive limb-girdle muscular dystrophy type 2G", "MONDO:0011171": "odonto-tricho-ungual-digito-palmar syndrome", "MONDO:0011174": "hyperzincemia with functional zinc depletion", "MONDO:0011176": "intestinal hypomagnesemia 1", "MONDO:0011178": "infantile convulsions and choreoathetosis", "MONDO:0011182": "trimethylaminuria (disease)", "MONDO:0011184": "childhood apraxia of speech", "MONDO:0011185": "Thiel-Behnke corneal dystrophy", "MONDO:0011190": "nephronophthisis 2", "MONDO:0011191": "capillary infantile hemangioma", "MONDO:0011197": "hereditary thermosensitive neuropathy", "MONDO:0011198": "spondyloepimetaphyseal dysplasia, Missouri type", "MONDO:0011200": "torsion dystonia 7", "MONDO:0011202": "RHYNS syndrome", "MONDO:0011208": "malignant atrophic papulosis", "MONDO:0011211": "axial spondylometaphyseal dysplasia", "MONDO:0011213": "Pierpont syndrome", "MONDO:0011214": "progressive familial intrahepatic cholestasis type 3", "MONDO:0011215": "osteocraniostenosis", "MONDO:0011217": "desmosterolosis", "MONDO:0011218": "autosomal recessive congenital ichthyosis 11", "MONDO:0011219": "Fried's tooth and nail syndrome", "MONDO:0011223": "amyotrophic lateral sclerosis type 4", "MONDO:0011224": "monomelic amyotrophy", "MONDO:0011225": "severe combined immunodeficiency due to DCLRE1C deficiency", "MONDO:0011227": "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome", "MONDO:0011229": "ethylmalonic encephalopathy", "MONDO:0011235": "pelvic dysplasia-arthrogryposis of lower limbs syndrome", "MONDO:0011236": "hyperinsulinism due to glucokinase deficiency", "MONDO:0011239": "colobomatous macrophthalmia-microcornea syndrome", "MONDO:0011240": "megalencephaly-capillary malformation-polymicrogyria syndrome", "MONDO:0011243": "grange syndrome", "MONDO:0011244": "Marshall-Smith syndrome", "MONDO:0011246": "megaconial type congenital muscular dystrophy", "MONDO:0011248": "distal monosomy 13q", "MONDO:0011252": "spondyloepimetaphyseal dysplasia, Shohat type", "MONDO:0011253": "craniomicromelic syndrome", "MONDO:0011255": "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome", "MONDO:0011257": "MPI-CDG", "MONDO:0011261": "spondyloepiphyseal dysplasia, Nishimura type", "MONDO:0011262": "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "MONDO:0011264": "torsion dystonia 6", "MONDO:0011266": "myotonic dystrophy type 2", "MONDO:0011273": "H syndrome", "MONDO:0011274": "Muenke syndrome", "MONDO:0011275": "acromesomelic dysplasia, Maroteaux type", "MONDO:0011287": "craniosynostosis-anal anomalies-porokeratosis syndrome", "MONDO:0011291": "congenital disorder of glycosylation type 1C", "MONDO:0011299": "Huntington disease-like 1", "MONDO:0011301": "pseudohypoparathyroidism type 1B", "MONDO:0011303": "focal segmental glomerulosclerosis 1", "MONDO:0011308": "gracile syndrome", "MONDO:0011309": "familial gestational hyperthyroidism", "MONDO:0011320": "radioulnar synostosis-microcephaly-scoliosis syndrome", "MONDO:0011323": "arhinia, choanal atresia, and microphthalmia", "MONDO:0011327": "neuronal intranuclear inclusion disease", "MONDO:0011330": "spinocerebellar ataxia type 10", "MONDO:0011331": "congenital chylothorax", "MONDO:0011334": "limb-mammary syndrome", "MONDO:0011335": "spondyloepimetaphyseal dysplasia with multiple dislocations", "MONDO:0011338": "Omenn syndrome", "MONDO:0011339": "hereditary spastic paraplegia 8", "MONDO:0011340": "congenital tracheal stenosis", "MONDO:0011342": "SLC35A1-CDG", "MONDO:0011346": "xanthinuria type II", "MONDO:0011348": "non-syndromic polydactyly", "MONDO:0011359": "acromelic frontonasal dysostosis", "MONDO:0011362": "hereditary proximal myopathy with early respiratory failure", "MONDO:0011365": "blepharophimosis - intellectual disability syndrome, SBBYS type", "MONDO:0011381": "dominant beta-thalassemia", "MONDO:0011382": "sickle cell anemia", "MONDO:0011391": "megalencephalic leukoencephalopathy with subcortical cysts", "MONDO:0011396": "keratoderma hereditarium mutilans with ichthyosis", "MONDO:0011397": "autosomal dominant cerebellar ataxia, deafness and narcolepsy", "MONDO:0011398": "dystrophic epidermolysis bullosa pruriginosa", "MONDO:0011399": "alpha thalassemia", "MONDO:0011402": "congenital cataracts-facial dysmorphism-neuropathy syndrome", "MONDO:0011405": "poikiloderma with neutropenia", "MONDO:0011408": "hereditary spastic paraplegia 10", "MONDO:0011411": "Chudley-McCullough syndrome", "MONDO:0011412": "familial encephalopathy with neuroserpin inclusion bodies", "MONDO:0011414": "Peters anomaly (disease)", "MONDO:0011417": "hemochromatosis type 3", "MONDO:0011420": "short stature due to partial GHR deficiency", "MONDO:0011422": "autosomal recessive proximal renal tubular acidosis", "MONDO:0011423": "autosomal recessive limb-girdle muscular dystrophy type 2E", "MONDO:0011424": "Carney triad", "MONDO:0011426": "aceruloplasminemia", "MONDO:0011429": "juvenile idiopathic arthritis", "MONDO:0011430": "pulverulent cataract", "MONDO:0011431": "MASS syndrome", "MONDO:0011432": "blepharophimosis - intellectual disability syndrome, Verloes type", "MONDO:0011436": "autosomal recessive distal spinal muscular atrophy 1", "MONDO:0011439": "spinocerebellar ataxia type 12", "MONDO:0011441": "complex regional pain syndrome type 1", "MONDO:0011445": "hereditary spastic paraplegia 11", "MONDO:0011448": "PPARG-related familial partial lipodystrophy", "MONDO:0011449": "Salla disease", "MONDO:0011454": "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome", "MONDO:0011462": "pyogenic arthritis-pyoderma gangrenosum-acne syndrome", "MONDO:0011463": "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive", "MONDO:0011464": "spinocerebellar ataxia type 11", "MONDO:0011466": "distal myopathy, Welander type", "MONDO:0011468": "hereditary motor and sensory neuropathy, Okinawa type", "MONDO:0011472": "epidermolysis bullosa simplex due to plakophilin deficiency", "MONDO:0011475": "Charcot-Marie-Tooth disease type 4B2", "MONDO:0011476": "MHC class I deficiency", "MONDO:0011479": "postural orthostatic tachycardia syndrome", "MONDO:0011481": "craniosynostosis, Boston type", "MONDO:0011486": "congenital muscular dystrophy 1B", "MONDO:0011487": "Huntington disease-like 3", "MONDO:0011489": "hereditary spastic paraplegia 12", "MONDO:0011490": "diffuse panbronchiolitis", "MONDO:0011493": "Stickler syndrome type 2", "MONDO:0011496": "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis", "MONDO:0011497": "hereditary North American Indian childhood cirrhosis", "MONDO:0011500": "Becker nevus syndrome", "MONDO:0011501": "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia", "MONDO:0011504": "NDE1-related microhydranencephaly", "MONDO:0011506": "familial infantile myoclonic epilepsy", "MONDO:0011510": "Bohring-Opitz syndrome", "MONDO:0011512": "Brooke-Spiegler syndrome", "MONDO:0011514": "tricuspid atresia (disease)", "MONDO:0011517": "pseudohyperaldosteronism type 2", "MONDO:0011518": "Wiedemann-Steiner syndrome", "MONDO:0011522": "hereditary spastic paraplegia 14", "MONDO:0011524": "Dianzani autoimmune lymphoproliferative disease", "MONDO:0011527": "Charcot-Marie-Tooth disease type 4E", "MONDO:0011528": "hyper-IgM syndrome type 2", "MONDO:0011529": "spinocerebellar ataxia type 13", "MONDO:0011530": "mesomelic dysplasia, Savarirayan type", "MONDO:0011532": "hereditary spastic paraplegia 13", "MONDO:0011533": "temtamy preaxial brachydactyly syndrome", "MONDO:0011534": "Charcot-Marie-Tooth disease type 4G", "MONDO:0011537": "macrocephaly-autism syndrome", "MONDO:0011539": "nemaline myopathy 5", "MONDO:0011540": "spinocerebellar ataxia type 14", "MONDO:0011541": "dilated cardiomyopathy 1J", "MONDO:0011551": "TH-deficient dopa-responsive dystonia", "MONDO:0011555": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome", "MONDO:0011559": "benign recurrent intrahepatic cholestasis type 2", "MONDO:0011569": "Charcot-Marie-Tooth disease type 2B1", "MONDO:0011570": "Charcot-Marie-Tooth disease type 2B2", "MONDO:0011575": "cerebrooculonasal syndrome", "MONDO:0011576": "familial hyperaldosteronism type II", "MONDO:0011578": "familial papillary thyroid carcinoma with renal papillary neoplasia", "MONDO:0011579": "late-onset retinal degeneration", "MONDO:0011581": "arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "MONDO:0011582": "multiple mitochondrial dysfunctions syndrome 1", "MONDO:0011584": "Fanconi anemia complementation group D1", "MONDO:0011585": "autosomal recessive distal spinal muscular atrophy 2", "MONDO:0011595": "nonsyndromic congenital nail disorder 7", "MONDO:0011599": "birdshot chorioretinopathy", "MONDO:0011601": "neonatal intrahepatic cholestasis due to citrin deficiency", "MONDO:0011603": "GNE myopathy", "MONDO:0011604": "spondylo-ocular syndrome", "MONDO:0011605": "generalized basaloid follicular hamartoma syndrome", "MONDO:0011610": "dimethylglycine dehydrogenase deficiency", "MONDO:0011612": "glycine encephalopathy", "MONDO:0011614": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "MONDO:0011615": "East Texas bleeding disorder", "MONDO:0011620": "metaphyseal dysplasia, Braun-Tinschert type", "MONDO:0011621": "acropectoral syndrome", "MONDO:0011624": "transaldolase deficiency", "MONDO:0011628": "propionic acidemia", "MONDO:0011629": "MOGS-CDG", "MONDO:0011631": "hemochromatosis type 4", "MONDO:0011633": "Charcot-Marie-Tooth disease axonal type 2C", "MONDO:0011638": "neuroferritinopathy", "MONDO:0011640": "genitopatellar syndrome", "MONDO:0011652": "Phelan McDermid syndrome", "MONDO:0011655": "alveolar soft part sarcoma (disease)", "MONDO:0011663": "juvenile primary lateral sclerosis", "MONDO:0011664": "immunodeficiency due to CD25 deficiency", "MONDO:0011669": "hypotonia-cystinuria syndrome", "MONDO:0011670": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "MONDO:0011671": "Huntington disease-like 2", "MONDO:0011672": "persistent polyclonal B-cell lymphocytosis", "MONDO:0011674": "Charcot-Marie-Tooth disease dominant intermediate b", "MONDO:0011675": "Charcot-Marie-Tooth disease dominant intermediate a", "MONDO:0011676": "PHACE syndrome", "MONDO:0011681": "episodic ataxia type 4", "MONDO:0011682": "episodic ataxia type 3", "MONDO:0011683": "oculocutaneous albinism type 4", "MONDO:0011686": "DNA ligase IV deficiency", "MONDO:0011687": "Charcot-Marie-Tooth disease axonal type 2F", "MONDO:0011688": "muscular dystrophy-dystroglycanopathy type B5", "MONDO:0011694": "spinocerebellar ataxia type 15/16", "MONDO:0011698": "glycine N-methyltransferase deficiency", "MONDO:0011706": "Kufor-Rakeb syndrome", "MONDO:0011717": "hyperinsulinism-hyperammonemia syndrome", "MONDO:0011719": "gastrointestinal stromal tumor", "MONDO:0011721": "distal myopathy with anterior tibial onset", "MONDO:0011722": "intellectual disability-obesity-prognathism-eye and skin anomalies syndrome", "MONDO:0011723": "hemifacial myohyperplasia", "MONDO:0011724": "encephalopathy due to GLUT1 deficiency", "MONDO:0011725": "Crigler-Najjar syndrome type 2", "MONDO:0011730": "fumaric aciduria", "MONDO:0011731": "glucose-galactose malabsorption", "MONDO:0011732": "familial digital arthropathy-brachydactyly", "MONDO:0011735": "hyper-IgM syndrome type 3", "MONDO:0011738": "bilateral frontoparietal polymicrogyria", "MONDO:0011740": "Carney-Stratakis syndrome", "MONDO:0011744": "primary intraosseous venous malformation", "MONDO:0011749": "oculocutaneous albinism type 1B", "MONDO:0011754": "familial hyperreninemic hypoaldosteronism type 2", "MONDO:0011758": "Hurler syndrome", "MONDO:0011759": "Hurler-Scheie syndrome", "MONDO:0011760": "Scheie syndrome", "MONDO:0011765": "multiple epiphyseal dysplasia type 5", "MONDO:0011766": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome", "MONDO:0011771": "distal spinal muscular atrophy type 3", "MONDO:0011772": "B4GALT1-CDG", "MONDO:0011773": "anauxetic dysplasia", "MONDO:0011776": "CINCA syndrome", "MONDO:0011778": "multiple epiphyseal dysplasia, Al-Gazali type", "MONDO:0011781": "spinocerebellar ataxia type 17", "MONDO:0011783": "ALG12-CDG", "MONDO:0011785": "hereditary spastic paraplegia 19", "MONDO:0011787": "autosomal recessive limb-girdle muscular dystrophy type 2I", "MONDO:0011788": "cloverleaf skull-multiple congenital anomalies syndrome", "MONDO:0011790": "Amish lethal microcephaly", "MONDO:0011794": "Dravet syndrome", "MONDO:0011795": "anonychia-microcephaly syndrome", "MONDO:0011797": "infantile-onset ascending hereditary spastic paralysis", "MONDO:0011798": "hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration", "MONDO:0011801": "spinocerebellar ataxia type 1 with axonal neuropathy", "MONDO:0011803": "hereditary spastic paraplegia 7", "MONDO:0011804": "autoimmune lymphoproliferative syndrome type 2B", "MONDO:0011806": "osteofibrous dysplasia", "MONDO:0011810": "horizontal gaze palsy with progressive scoliosis", "MONDO:0011811": "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome", "MONDO:0011812": "Duane-radial ray syndrome", "MONDO:0011816": "lathosterolosis", "MONDO:0011818": "isolated focal cortical dysplasia type II", "MONDO:0011819": "spinocerebellar ataxia type 19/22", "MONDO:0011822": "Bartter disease type 3", "MONDO:0011823": "developmental malformations-deafness-dystonia syndrome", "MONDO:0011827": "patent ductus arteriosus", "MONDO:0011830": "lissencephaly due to LIS1 mutation", "MONDO:0011833": "spinocerebellar ataxia type 21", "MONDO:0011834": "spinocerebellar ataxia type 18", "MONDO:0011835": "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome", "MONDO:0011838": "Bothnia retinal dystrophy", "MONDO:0011841": "biotin-responsive basal ganglia disease", "MONDO:0011844": "myoclonic dystonia 15", "MONDO:0011849": "psoriatic arthritis", "MONDO:0011855": "granular corneal dystrophy type II", "MONDO:0011856": "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome", "MONDO:0011862": "hereditary spastic paraplegia 24", "MONDO:0011868": "lethal congenital contracture syndrome 2", "MONDO:0011869": "epidermolysis bullosa simplex superficialis", "MONDO:0011870": "annular epidermolytic ichthyosis", "MONDO:0011871": "Niemann-Pick disease type B", "MONDO:0011872": "Griscelli syndrome type 2", "MONDO:0011874": "neonatal ichthyosis-sclerosing cholangitis syndrome", "MONDO:0011877": "autosomal dominant osteopetrosis 1", "MONDO:0011882": "skin fragility-woolly hair-palmoplantar keratoderma syndrome", "MONDO:0011883": "Curly hair - acral keratoderma - caries syndrome", "MONDO:0011884": "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome", "MONDO:0011885": "tubulointerstitial nephritis and uveitis syndrome", "MONDO:0011886": "torsion dystonia 13", "MONDO:0011888": "immunodeficiency 67", "MONDO:0011889": "Charcot-Marie-Tooth disease type 2I", "MONDO:0011890": "Charcot-Marie-Tooth disease type 1D", "MONDO:0011894": "Charcot-Marie-Tooth disease type 2E", "MONDO:0011895": "idiopathic hypereosinophilic syndrome", "MONDO:0011899": "Noonan syndrome-like disorder with loose anagen hair", "MONDO:0011901": "Charcot-Marie-Tooth disease axonal type 2H", "MONDO:0011902": "Charcot-Marie-Tooth disease type 1F", "MONDO:0011903": "Charcot-Marie-Tooth disease type 2J", "MONDO:0011904": "seizures, benign familial infantile, 3", "MONDO:0011906": "congenital bile acid synthesis defect 1", "MONDO:0011907": "acrocapitofemoral dysplasia", "MONDO:0011908": "juvenile myelomonocytic leukemia", "MONDO:0011909": "Charcot-Marie-Tooth disease dominant intermediate d", "MONDO:0011910": "obsolete autosomal dominant limb-girdle muscular dystrophy type 1C", "MONDO:0011911": "craniolenticulosutural dysplasia", "MONDO:0011916": "Charcot-Marie-Tooth disease axonal type 2K", "MONDO:0011922": "adult idiopathic neutropenia", "MONDO:0011925": "congenital merosin-deficient muscular dystrophy 1A", "MONDO:0011927": "tufted angioma (disease)", "MONDO:0011928": "caudal duplication", "MONDO:0011929": "chromosome 1p36 deletion syndrome", "MONDO:0011933": "ALG2-CDG", "MONDO:0011934": "dermatofibrosarcoma protuberans", "MONDO:0011936": "microphthalmia with brain and digit anomalies", "MONDO:0011939": "Spondyloenchondrodysplasia with immune dysregulation", "MONDO:0011945": "Gaucher disease perinatal lethal", "MONDO:0011946": "diaphanospondylodysostosis", "MONDO:0011948": "pontocerebellar hypoplasia type 3", "MONDO:0011950": "infantile-onset autosomal recessive nonprogressive cerebellar ataxia", "MONDO:0011953": "familial acute necrotizing encephalopathy", "MONDO:0011957": "retinal macular dystrophy type 2", "MONDO:0011959": "sweet syndrome", "MONDO:0011961": "hereditary sensory and autonomic neuropathy type 1B", "MONDO:0011964": "DPAGT1-CDG", "MONDO:0011968": "autosomal recessive limb-girdle muscular dystrophy type 2D", "MONDO:0011969": "ALG8-CDG", "MONDO:0011970": "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "MONDO:0011971": "hyper-IgM syndrome type 5", "MONDO:0011972": "ovarian hyperstimulation syndrome", "MONDO:0011975": "paternal uniparental disomy of chromosome 14", "MONDO:0011976": "lipodystrophy-intellectual disability-deafness syndrome", "MONDO:0011977": "8q22.1 microdeletion syndrome", "MONDO:0011979": "adult-onset foveomacular vitelliform dystrophy", "MONDO:0011984": "synpolydactyly type 2", "MONDO:0011985": "hyper-IgM syndrome type 4", "MONDO:0011986": "tropical pancreatitis", "MONDO:0011988": "neutrophil immunodeficiency syndrome", "MONDO:0011989": "leishmaniasis", "MONDO:0011992": "hereditary spastic paraplegia 25", "MONDO:0011995": "cataract - congenital heart disease - neural tube defect syndrome", "MONDO:0011996": "chronic myelogenous leukemia, BCR-ABL1 positive", "MONDO:0011997": "Hermansky-Pudlak syndrome 2", "MONDO:0011998": "autosomal dominant slowed nerve conduction velocity", "MONDO:0012004": "parathyroid gland carcinoma", "MONDO:0012008": "Lelis syndrome", "MONDO:0012012": "Charcot-Marie-Tooth disease dominant intermediate c", "MONDO:0012013": "glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome", "MONDO:0012014": "Charcot-Marie-Tooth disease recessive intermediate a", "MONDO:0012016": "capillary malformation-arteriovenous malformation syndrome", "MONDO:0012019": "spondyloepiphyseal dysplasia, Kimberley type", "MONDO:0012020": "chromosome 22q11.2 microduplication syndrome", "MONDO:0012032": "Braddock syndrome", "MONDO:0012033": "bradyopsia", "MONDO:0012034": "autosomal dominant limb-girdle muscular dystrophy type 1F", "MONDO:0012035": "craniosynostosis-intracranial calcifications syndrome", "MONDO:0012041": "MUTYH-related attenuated familial adenomatous polyposis", "MONDO:0012043": "Reis-Bucklers corneal dystrophy", "MONDO:0012049": "orofaciodigital syndrome VII", "MONDO:0012052": "ALG1-CDG", "MONDO:0012055": "Larsen-like osseous dysplasia-short stature syndrome", "MONDO:0012061": "familial sick sinus syndrome", "MONDO:0012063": "ulnar/fibula ray defect-brachydactyly syndrome", "MONDO:0012064": "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome", "MONDO:0012072": "familial partial lipodystrophy, Kobberling type", "MONDO:0012073": "ribose-5-P isomerase deficiency", "MONDO:0012074": "mandibuloacral dysplasia with type B lipodystrophy", "MONDO:0012075": "oligodontia-cancer predisposition syndrome", "MONDO:0012081": "15q11q13 microduplication syndrome", "MONDO:0012084": "aromatic L-amino acid decarboxylase deficiency", "MONDO:0012089": "ichthyosis prematurity syndrome", "MONDO:0012092": "hereditary sensory and autonomic neuropathy type 5", "MONDO:0012095": "intellectual disability-brachydactyly-Pierre Robin syndrome", "MONDO:0012096": "Charcot-Marie-Tooth disease axonal type 2L", "MONDO:0012098": "spinocerebellar ataxia type 20", "MONDO:0012099": "AICA-ribosiduria", "MONDO:0012103": "spinocerebellar ataxia type 25", "MONDO:0012104": "acquired partial lipodystrophy", "MONDO:0012105": "granulomatosis with polyangiitis", "MONDO:0012108": "spondyloepimetaphyseal dysplasia, matrilin-3 type", "MONDO:0012110": "growth delay due to insulin-like growth factor type 1 deficiency", "MONDO:0012116": "spinocerebellar ataxia type 8", "MONDO:0012117": "ALG9-CDG", "MONDO:0012118": "COG7-CDG", "MONDO:0012120": "pyruvate dehydrogenase phosphatase deficiency", "MONDO:0012123": "congenital disorder of glycosylation type 1E", "MONDO:0012124": "sudden infant death-dysgenesis of the testes syndrome", "MONDO:0012125": "hypomyelinating leukodystrophy 2", "MONDO:0012126": "familial avascular necrosis of femoral head", "MONDO:0012127": "autosomal recessive limb-girdle muscular dystrophy type 2J", "MONDO:0012130": "myofibrillar myopathy 2", "MONDO:0012131": "metaphyseal undermodeling, spondylar dysplasia, and overgrowth", "MONDO:0012136": "carnitine palmitoyl transferase II deficiency, neonatal form", "MONDO:0012137": "Carney complex - trismus - pseudocamptodactyly syndrome", "MONDO:0012138": "muscular dystrophy-dystroglycanopathy type B6", "MONDO:0012143": "hereditary cryohydrocytosis with reduced stomatin", "MONDO:0012155": "choanal atresia", "MONDO:0012160": "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome", "MONDO:0012161": "susceptibility to respiratory infections associated with CD8alpha chain mutation", "MONDO:0012164": "Meacham syndrome", "MONDO:0012165": "BNAR syndrome", "MONDO:0012172": "mitochondrial trifunctional protein deficiency", "MONDO:0012173": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "MONDO:0012176": "Emanuel syndrome", "MONDO:0012177": "posterior column ataxia-retinitis pigmentosa syndrome", "MONDO:0012181": "hereditary spastic paraplegia 27", "MONDO:0012184": "Pierson syndrome", "MONDO:0012185": "spondylometaphyseal dysplasia, A4 type", "MONDO:0012188": "neuronal ceroid lipofuscinosis 9", "MONDO:0012190": "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome", "MONDO:0012191": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "MONDO:0012192": "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome", "MONDO:0012193": "autosomal dominant limb-girdle muscular dystrophy type 1G", "MONDO:0012195": "arthrogryposis-severe scoliosis syndrome", "MONDO:0012197": "idiopathic aplastic anemia", "MONDO:0012198": "PCWH syndrome", "MONDO:0012203": "familial hyperthyroidism due to mutations in TSH receptor", "MONDO:0012204": "familial pseudohyperkalemia", "MONDO:0012206": "Czech dysplasia, metatarsal type", "MONDO:0012208": "congenital reticular ichthyosiform erythroderma", "MONDO:0012209": "branchiogenic deafness syndrome", "MONDO:0012211": "MPDU1-CDG", "MONDO:0012212": "Loeys-Dietz syndrome 1", "MONDO:0012213": "hereditary spastic paraplegia 26", "MONDO:0012215": "myofibrillar myopathy 3", "MONDO:0012216": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome", "MONDO:0012220": "Griscelli syndrome type 3", "MONDO:0012221": "alpha-N-acetylgalactosaminidase deficiency type 1", "MONDO:0012222": "alpha-N-acetylgalactosaminidase deficiency type 2", "MONDO:0012231": "Charcot-Marie-Tooth disease type 2A2", "MONDO:0012235": "autosomal recessive spinocerebellar ataxia 7", "MONDO:0012243": "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations", "MONDO:0012246": "spinocerebellar ataxia type 26", "MONDO:0012247": "spinocerebellar ataxia type 27", "MONDO:0012248": "autosomal recessive limb-girdle muscular dystrophy type 2K", "MONDO:0012250": "Charcot-Marie-Tooth disease type 4H", "MONDO:0012251": "MEDNIK syndrome", "MONDO:0012253": "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia", "MONDO:0012254": "multiple epiphyseal dysplasia, with miniepiphyses", "MONDO:0012256": "hereditary spastic paraplegia 28", "MONDO:0012257": "Cerebrorenodigital syndrome", "MONDO:0012258": "epidermolysis bullosa simplex with circinate migratory erythema", "MONDO:0012269": "chromosome 3q29 microdeletion syndrome", "MONDO:0012271": "mesoaxial synostotic syndactyly with phalangeal reduction", "MONDO:0012275": "fetal valproate syndrome", "MONDO:0012276": "generalized epilepsy-paroxysmal dyskinesia syndrome", "MONDO:0012277": "myofibrillar myopathy 4", "MONDO:0012280": "Goldberg-Shprintzen megacolon syndrome", "MONDO:0012282": "Al-Gazali syndrome", "MONDO:0012289": "myofibrillar myopathy 5", "MONDO:0012290": "CEDNIK syndrome", "MONDO:0012296": "lipomyelomeningocele", "MONDO:0012297": "SPOAN syndrome", "MONDO:0012301": "mitochondrial DNA depletion syndrome, myopathic form", "MONDO:0012307": "familial scaphocephaly syndrome, McGillivray type", "MONDO:0012308": "Joubert syndrome with renal defect", "MONDO:0012315": "distal 10q deletion syndrome", "MONDO:0012316": "Majeed syndrome", "MONDO:0012323": "lethal acantholytic epidermolysis bullosa", "MONDO:0012324": "14q22q23 microdeletion syndrome", "MONDO:0012330": "talo-patello-scaphoid osteolysis", "MONDO:0012334": "hereditary spastic paraplegia 29", "MONDO:0012335": "obesity due to pro-opiomelanocortin deficiency", "MONDO:0012342": "7q11.23 microduplication syndrome", "MONDO:0012345": "acral peeling skin syndrome", "MONDO:0012351": "zygodactyly type 1", "MONDO:0012354": "platelet-type bleeding disorder 8", "MONDO:0012359": "combined immunodeficiency due to partial RAG1 deficiency", "MONDO:0012368": "neurological conditions associated with aminoacylase 1 deficiency", "MONDO:0012381": "hyperinsulinism due to INSR deficiency", "MONDO:0012382": "hyperinsulinemic hypoglycemia, familial, 4", "MONDO:0012383": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency", "MONDO:0012387": "osteosclerosis-ichthyosis-premature ovarian failure syndrome", "MONDO:0012391": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant", "MONDO:0012392": "2-methylbutyryl-CoA dehydrogenase deficiency", "MONDO:0012393": "congenital brain dysgenesis due to glutamine synthetase deficiency", "MONDO:0012396": "exercise-induced hyperinsulinism", "MONDO:0012399": "complex cortical dysplasia with other brain malformations 7", "MONDO:0012400": "cortical dysplasia-focal epilepsy syndrome", "MONDO:0012401": "congenital stromal corneal dystrophy", "MONDO:0012407": "pyridoxal phosphate-responsive seizures", "MONDO:0012410": "Finnish upper limb-onset distal myopathy", "MONDO:0012411": "giant axonal neuropathy 2", "MONDO:0012413": "syndromic microphthalmia type 5", "MONDO:0012414": "neuronal ceroid lipofuscinosis 10", "MONDO:0012417": "heart-hand syndrome, Slovenian type", "MONDO:0012423": "MORM syndrome", "MONDO:0012435": "3-methylglutaconic aciduria type 5", "MONDO:0012436": "neonatal diabetes mellitus with congenital hypothyroidism", "MONDO:0012438": "pontocerebellar hypoplasia type 5", "MONDO:0012439": "Alagille syndrome due to a NOTCH2 point mutation", "MONDO:0012446": "seborrhea-like dermatitis with psoriasiform elements", "MONDO:0012447": "synpolydactyly type 3", "MONDO:0012449": "spinocerebellar ataxia type 23", "MONDO:0012450": "spinocerebellar ataxia type 28", "MONDO:0012453": "hereditary spastic paraplegia 31", "MONDO:0012455": "Kleefstra syndrome", "MONDO:0012456": "congenital primary aphakia", "MONDO:0012462": "autosomal recessive frontotemporal pachygyria", "MONDO:0012465": "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", "MONDO:0012475": "cone dystrophy with supernormal rod response", "MONDO:0012476": "hereditary spastic paraplegia 30", "MONDO:0012479": "congenital malabsorptive diarrhea 4", "MONDO:0012481": "mevalonic aciduria", "MONDO:0012495": "spondyloepimetaphyseal dysplasia, GeneviC(ve type", "MONDO:0012496": "Koolen de Vries syndrome", "MONDO:0012502": "normophosphatemic familial tumoral calcinosis", "MONDO:0012503": "thiopurine S-methyltransferase deficiency", "MONDO:0012504": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "MONDO:0012508": "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome", "MONDO:0012510": "combined oxidative phosphorylation defect type 2", "MONDO:0012512": "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3", "MONDO:0012514": "hypomyelinating leukodystrophy 5", "MONDO:0012516": "mandibulofacial dysostosis-microcephaly syndrome", "MONDO:0012517": "atypical Gaucher disease due to saposin C deficiency", "MONDO:0012519": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion", "MONDO:0012520": "insulin-resistance syndrome type A", "MONDO:0012521": "herpes simplex encephalitis", "MONDO:0012526": "hereditary angioedema type 3", "MONDO:0012530": "palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome", "MONDO:0012531": "xeroderma pigmentosum group B", "MONDO:0012534": "combined oxidative phosphorylation defect type 4", "MONDO:0012541": "deafness with labyrinthine aplasia, microtia, and microdontia", "MONDO:0012544": "brachydactyly-syndactyly syndrome", "MONDO:0012545": "neutral lipid storage myopathy", "MONDO:0012548": "Kostmann syndrome", "MONDO:0012549": "autosomal recessive ataxia, Beauce type", "MONDO:0012552": "multiple endocrine neoplasia type 4", "MONDO:0012556": "DK1-CDG", "MONDO:0012557": "cardiomyopathy-hypotonia-lactic acidosis syndrome", "MONDO:0012559": "primary immunodeficiency syndrome due to p14 deficiency", "MONDO:0012570": "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency", "MONDO:0012574": "Potocki-Lupski syndrome", "MONDO:0012579": "autoimmune pulmonary alveolar proteinosis", "MONDO:0012580": "hereditary pulmonary alveolar proteinosis", "MONDO:0012582": "interstitial lung disease due to ABCA3 deficiency", "MONDO:0012588": "neuronal ceroid lipofuscinosis 7", "MONDO:0012589": "Pitt-Hopkins syndrome", "MONDO:0012591": "osteogenesis imperfecta type 5", "MONDO:0012593": "brain-lung-thyroid syndrome", "MONDO:0012594": "complement factor I deficiency", "MONDO:0012596": "PSAT deficiency", "MONDO:0012605": "isolated microphthalmia 5", "MONDO:0012608": "autosomal recessive lower motor neuron disease with childhood onset", "MONDO:0012611": "polyhydramnios, megalencephaly, and symptomatic epilepsy", "MONDO:0012621": "deafness-infertility syndrome", "MONDO:0012622": "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "MONDO:0012624": "acyl-CoA dehydrogenase 9 deficiency", "MONDO:0012634": "craniofacial dysplasia - osteopenia syndrome", "MONDO:0012635": "COG8-CDG", "MONDO:0012637": "COG1-CDG", "MONDO:0012638": "microphthalmia-brain atrophy syndrome", "MONDO:0012639": "hereditary spastic paraplegia 18", "MONDO:0012640": "Charcot-Marie-Tooth disease type 4J", "MONDO:0012643": "hereditary spastic paraplegia 32", "MONDO:0012648": "isobutyryl-CoA dehydrogenase deficiency", "MONDO:0012650": "Cernunnos-XLF deficiency", "MONDO:0012651": "spastic ataxia 2", "MONDO:0012652": "autosomal recessive limb-girdle muscular dystrophy type 2L", "MONDO:0012656": "lethal congenital contracture syndrome 3", "MONDO:0012658": "brachydactyly type B2", "MONDO:0012664": "spastic ataxia 3", "MONDO:0012665": "cataract 33", "MONDO:0012669": "Legius syndrome", "MONDO:0012675": "corticosteroid-binding globulin deficiency", "MONDO:0012679": "autosomal recessive osteopetrosis 6", "MONDO:0012682": "immunodeficiency 35", "MONDO:0012683": "pontocerebellar hypoplasia type 6", "MONDO:0012687": "familial cavitary optic disc anomaly", "MONDO:0012693": "glycogen storage disease due to muscle and heart glycogen synthase deficiency", "MONDO:0012699": "autosomal recessive limb-girdle muscular dystrophy type 2M", "MONDO:0012700": "distal renal tubular acidosis with anemia", "MONDO:0012703": "lissencephaly due to TUBA1A mutation", "MONDO:0012714": "early-onset myopathy with fatal cardiomyopathy", "MONDO:0012716": "spondyloepiphyseal dysplasia, Cantu type", "MONDO:0012718": "hypotonia with lactic acidemia and hyperammonemia", "MONDO:0012719": "encephalopathy due to prosaposin deficiency", "MONDO:0012721": "progressive myoclonic epilepsy type 3", "MONDO:0012724": "familial cold autoinflammatory syndrome 2", "MONDO:0012725": "lipoprotein glomerulopathy", "MONDO:0012726": "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome", "MONDO:0012727": "mucocutaneous lymph node syndrome", "MONDO:0012733": "autosomal recessive bestrophinopathy", "MONDO:0012734": "SERKAL syndrome", "MONDO:0012735": "Temple-Baraitser syndrome", "MONDO:0012739": "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome", "MONDO:0012740": "chromosome 22q11.2 deletion syndrome, distal", "MONDO:0012747": "glycogen storage disease due to aldolase A deficiency", "MONDO:0012750": "lethal arthrogryposis-anterior horn cell disease syndrome", "MONDO:0012755": "episodic ataxia type 7", "MONDO:0012756": "proximal 16p11.2 microdeletion syndrome", "MONDO:0012757": "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome", "MONDO:0012759": "camptodactyly syndrome, Guadalajara type 3", "MONDO:0012761": "chromosome 3q29 microduplication syndrome", "MONDO:0012764": "RIDDLE syndrome", "MONDO:0012766": "hereditary spastic paraplegia 37", "MONDO:0012774": "chromosome 15q13.3 microdeletion syndrome", "MONDO:0012783": "RFT1-CDG", "MONDO:0012784": "autosomal recessive ataxia due to ubiquinone deficiency", "MONDO:0012786": "juvenile cataract-microcornea-renal glucosuria syndrome", "MONDO:0012787": "hereditary spastic paraplegia 39", "MONDO:0012789": "dystonia 16", "MONDO:0012791": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "MONDO:0012792": "mitochondrial DNA depletion syndrome 8a", "MONDO:0012794": "ANE syndrome", "MONDO:0012802": "oculoauricular syndrome", "MONDO:0012803": "diarrhea-vomiting due to trehalase deficiency", "MONDO:0012805": "childhood onset GLUT1 deficiency syndrome 2", "MONDO:0012807": "epidermolysis bullosa simplex with pyloric atresia", "MONDO:0012809": "histiocytoma, Angiomatoid fibrous", "MONDO:0012812": "epileptic encephalopathy, early infantile, 4", "MONDO:0012815": "Coats plus syndrome", "MONDO:0012817": "Ewing sarcoma", "MONDO:0012824": "hypomyelinating leukodystrophy 4", "MONDO:0012825": "extraskeletal myxoid chondrosarcoma", "MONDO:0012830": "chromosome 10q23 deletion syndrome", "MONDO:0012833": "Crouzon syndrome-acanthosis nigricans syndrome", "MONDO:0012839": "pyogenic bacterial infections due to MyD88 deficiency", "MONDO:0012853": "progeroid syndrome, Petty type", "MONDO:0012854": "bilateral microtia-deafness-cleft palate syndrome", "MONDO:0012856": "Birk-Barel syndrome", "MONDO:0012858": "primary CD59 deficiency", "MONDO:0012859": "autosomal recessive osteopetrosis 7", "MONDO:0012864": "chromosome 2q32-q33 deletion syndrome", "MONDO:0012866": "hereditary spastic paraplegia 35", "MONDO:0012867": "hereditary spastic paraplegia 38", "MONDO:0012868": "thrombophilia due to protein S deficiency, autosomal dominant", "MONDO:0012873": "Ehlers-Danlos syndrome, spondylocheirodysplastic type", "MONDO:0012883": "acute promyelocytic leukemia", "MONDO:0012885": "SRD5A3-CDG", "MONDO:0012892": "connective tissue disorder due to lysyl hydroxylase-3 deficiency", "MONDO:0012895": "torsion dystonia 17", "MONDO:0012897": "congenital factor XI deficiency", "MONDO:0012901": "inherited prekallikrein deficiency", "MONDO:0012905": "hypomyelinating leukodystrophy 6", "MONDO:0012907": "blindness - scoliosis - arachnodactyly syndrome", "MONDO:0012911": "pseudohypoparathyroidism type 1C", "MONDO:0012912": "pseudopseudohypoparathyroidism", "MONDO:0012914": "chromosome 1q21.1 deletion syndrome", "MONDO:0012915": "chromosome 1q21.1 duplication syndrome", "MONDO:0012916": "chromosome 2p16.1-p15 deletion syndrome", "MONDO:0012927": "chromosome 1q41-q42 deletion syndrome", "MONDO:0012928": "hereditary spastic paraplegia 42", "MONDO:0012929": "Compton-North congenital myopathy", "MONDO:0012930": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency", "MONDO:0012948": "chromosome 6pter-p24 deletion syndrome", "MONDO:0012960": "intellectual disability, autosomal dominant 5", "MONDO:0012964": "chromosome 15q26-qter deletion syndrome", "MONDO:0012967": "hemolytic anemia due to adenylate kinase deficiency", "MONDO:0012980": "endocrine-cerebro-osteodysplasia syndrome", "MONDO:0012982": "episodic ataxia type 6", "MONDO:0012984": "PHARC syndrome", "MONDO:0012986": "bilateral parasagittal parieto-occipital polymicrogyria", "MONDO:0012991": "Kahrizi syndrome", "MONDO:0012992": "pancreatic insufficiency-anemia-hyperostosis syndrome", "MONDO:0012994": "dopa-responsive dystonia due to sepiapterin reductase deficiency", "MONDO:0012996": "AGAT deficiency", "MONDO:0012997": "cholestasis-pigmentary retinopathy-cleft palate syndrome", "MONDO:0012999": "guanidinoacetate methyltransferase deficiency", "MONDO:0013000": "porphyria due to ALA dehydratase deficiency", "MONDO:0013003": "isolated congenital hypoglossia/aglossia", "MONDO:0013005": "EAST syndrome", "MONDO:0013006": "isolated growth hormone deficiency type IB", "MONDO:0013007": "combined immunodeficiency due to ORAI1 deficiency", "MONDO:0013008": "combined immunodeficiency due to STIM1 deficiency", "MONDO:0013014": "spondyloepimetaphyseal dysplasia, aggrecan type", "MONDO:0013016": "leukocyte adhesion deficiency 3", "MONDO:0013021": "sterile multifocal osteomyelitis with periostitis and pustulosis", "MONDO:0013024": "chronic thromboembolic pulmonary hypertension", "MONDO:0013025": "chromosome 6q24-q25 deletion syndrome", "MONDO:0013026": "subepithelial mucinous corneal dystrophy", "MONDO:0013027": "posterior amorphous corneal dystrophy", "MONDO:0013028": "adenosine monophosphate deaminase deficiency", "MONDO:0013035": "orofaciodigital syndrome XI", "MONDO:0013036": "Zechi-Ceide syndrome", "MONDO:0013038": "CLOVES syndrome", "MONDO:0013040": "atypical hemolytic-uremic syndrome with MCP/CD46 anomaly", "MONDO:0013041": "atypical hemolytic-uremic syndrome with I factor anomaly", "MONDO:0013042": "atypical hemolytic-uremic syndrome with B factor anomaly", "MONDO:0013043": "atypical hemolytic-uremic syndrome with C3 anomaly", "MONDO:0013044": "atypical hemolytic-uremic syndrome with thrombomodulin anomaly", "MONDO:0013046": "glycogen storage disease due to muscle beta-enolase deficiency", "MONDO:0013047": "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency", "MONDO:0013049": "DPM3-CDG", "MONDO:0013050": "lethal polymalformative syndrome, Boissel type", "MONDO:0013051": "autosomal recessive cutis laxa type 2B", "MONDO:0013053": "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type", "MONDO:0013056": "epileptic encephalopathy with global cerebral demyelination", "MONDO:0013058": "cystic leukoencephalopathy without megalencephaly", "MONDO:0013060": "autosomal recessive Parkinson disease 14", "MONDO:0013061": "myofibrillar myopathy 6", "MONDO:0013069": "autosomal recessive optic atrophy, OPA7 type", "MONDO:0013074": "encephalocraniocutaneous lipomatosis", "MONDO:0013081": "lymphoproliferative syndrome 1", "MONDO:0013082": "Hirschsprung disease-ganglioneuroblastoma syndrome", "MONDO:0013090": "chromosome 19q13.11 deletion syndrome", "MONDO:0013099": "combined pituitary hormone deficiencies, genetic form", "MONDO:0013110": "neurodegenerative syndrome due to cerebral folate transport deficiency", "MONDO:0013111": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "MONDO:0013115": "RIN2 syndrome", "MONDO:0013116": "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome", "MONDO:0013118": "Nijmegen breakage syndrome-like disorder", "MONDO:0013125": "CLAPO syndrome", "MONDO:0013127": "asphyxiating thoracic dystrophy 3", "MONDO:0013128": "familial juvenile hyperuricemic nephropathy type 2", "MONDO:0013132": "hereditary spastic paraplegia 36", "MONDO:0013136": "hereditary hypotrichosis with recurrent skin vesicles", "MONDO:0013143": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency", "MONDO:0013144": "antithrombin III deficiency", "MONDO:0013150": "infantile dystonia-parkinsonism", "MONDO:0013161": "autosomal recessive limb-girdle muscular dystrophy type 2O", "MONDO:0013162": "autosomal recessive limb-girdle muscular dystrophy type 2N", "MONDO:0013164": "beta-ureidopropionase deficiency", "MONDO:0013165": "hereditary spastic paraplegia 45", "MONDO:0013166": "GABA aminotransferase deficiency", "MONDO:0013169": "chromosome 5p13 duplication syndrome", "MONDO:0013170": "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies", "MONDO:0013171": "purine nucleoside phosphorylase deficiency", "MONDO:0013172": "polymicrogyria with optic nerve hypoplasia", "MONDO:0013176": "ichthyosis-short stature-brachydactyly-microspherophakia syndrome", "MONDO:0013177": "congenital muscular dystrophy due to integrin alpha-7 deficiency", "MONDO:0013178": "congenital muscular dystrophy due to LMNA mutation", "MONDO:0013179": "hereditary spastic paraplegia 44", "MONDO:0013182": "chromosome 17p13.3 duplication syndrome", "MONDO:0013184": "congenital diarrhea 5 with tufting enteropathy", "MONDO:0013208": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome", "MONDO:0013209": "non-alcoholic fatty liver disease", "MONDO:0013212": "Charcot-Marie-Tooth disease axonal type 2N", "MONDO:0013214": "bile acid malabsorption, primary", "MONDO:0013222": "Miyoshi muscular dystrophy 3", "MONDO:0013223": "autosomal recessive spondylometaphyseal dysplasia, Megarbane type", "MONDO:0013225": "congenital generalized lipodystrophy type 4", "MONDO:0013226": "combined immunodeficiency with faciooculoskeletal anomalies", "MONDO:0013227": "congenital plasminogen activator inhibitor type 1 deficiency", "MONDO:0013228": "spondylo-megaepiphyseal-metaphyseal dysplasia", "MONDO:0013229": "hot water reflex epilepsy", "MONDO:0013232": "brachydactylous dwarfism, Mseleni type", "MONDO:0013233": "spondyloepimetaphyseal dysplasia, Handigodu type", "MONDO:0013238": "chromosome 17q23.1-q23.2 deletion syndrome", "MONDO:0013239": "hereditary spastic paraplegia 41", "MONDO:0013241": "spinocerebellar ataxia type 30", "MONDO:0013245": "syndromic multisystem autoimmune disease due to Itch deficiency", "MONDO:0013252": "Warsaw breakage syndrome", "MONDO:0013254": "microcephaly, seizures, and developmental delay", "MONDO:0013256": "chromosome 15q24 deletion syndrome", "MONDO:0013266": "intellectual disability, autosomal dominant 20", "MONDO:0013267": "distal 16p11.2 microdeletion syndrome", "MONDO:0013268": "frontonasal dysplasia with alopecia and genital anomaly", "MONDO:0013271": "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome", "MONDO:0013272": "chromosome 14q11-q22 deletion syndrome", "MONDO:0013273": "chromosome 16p13.3 duplication syndrome", "MONDO:0013275": "hemolytic anemia due to glucophosphate isomerase deficiency", "MONDO:0013276": "Reynolds syndrome", "MONDO:0013281": "COG4-CDG", "MONDO:0013282": "alpha 1-antitrypsin deficiency", "MONDO:0013291": "glycogen storage disease XV", "MONDO:0013292": "chromosome 4q21 deletion syndrome", "MONDO:0013296": "myeloid neoplasm associated with FGFR1 rearrangement", "MONDO:0013297": "autosomal dominant limb-girdle muscular dystrophy type 1H", "MONDO:0013298": "chromosome 17q21.31 duplication syndrome", "MONDO:0013300": "commissural facial cleft", "MONDO:0013301": "aromatase deficiency", "MONDO:0013304": "von Willebrand disease 2", "MONDO:0013306": "combined oxidative phosphorylation defect type 7", "MONDO:0013308": "CBL-related disorder", "MONDO:0013310": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency", "MONDO:0013311": "ectodermal dysplasia-syndactyly syndrome", "MONDO:0013313": "ectodermal dysplasia-cutaneous syndactyly syndrome", "MONDO:0013316": "occult macular dystrophy", "MONDO:0013317": "torsade-de-pointes syndrome with short coupling interval", "MONDO:0013320": "chromosome 16p12.2-p11.2 deletion syndrome", "MONDO:0013324": "lymphedema-posterior choanal atresia syndrome", "MONDO:0013325": "COG5-CDG", "MONDO:0013327": "primary hyperoxaluria type 3", "MONDO:0013329": "familial clubfoot due to 17q23.1q23.2 microduplication", "MONDO:0013334": "cocoon syndrome", "MONDO:0013336": "chromosome 19p13.13 deletion syndrome", "MONDO:0013338": "Charcot-Marie-Tooth disease recessive intermediate b", "MONDO:0013341": "methylmalonic acidemia due to transcobalamin receptor defect", "MONDO:0013342": "hereditary spastic paraplegia 48", "MONDO:0013349": "ALG11-CDG", "MONDO:0013351": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly", "MONDO:0013352": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "MONDO:0013353": "intellectual disability, anterior maxillary protrusion, and strabismus", "MONDO:0013354": "spastic ataxia 4", "MONDO:0013355": "congenital dyserythropoietic anemia type 4", "MONDO:0013357": "chromosome 17q11.2 deletion syndrome, 1.4Mb", "MONDO:0013359": "familial hyperaldosteronism type III", "MONDO:0013360": "brachyolmia, Maroteaux type", "MONDO:0013361": "congenital prothrombin deficiency", "MONDO:0013362": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome", "MONDO:0013363": "chromosome 2q31.1 duplication syndrome", "MONDO:0013364": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency", "MONDO:0013368": "mammary-digital-nail syndrome", "MONDO:0013382": "progressive demyelinating neuropathy with bilateral striatal necrosis", "MONDO:0013387": "KCNQ2-related epileptic encephalopathy", "MONDO:0013390": "autosomal recessive limb-girdle muscular dystrophy type 2Q", "MONDO:0013391": "leukoencephalopathy-dystonia-motor neuropathy syndrome", "MONDO:0013392": "autosomal recessive spinocerebellar ataxia 10", "MONDO:0013393": "distal 7q11.23 microdeletion syndrome", "MONDO:0013394": "porencephaly-microcephaly-bilateral congenital cataract syndrome", "MONDO:0013396": "chromosome 1p32-p31 deletion syndrome", "MONDO:0013400": "congenital adrenal insufficiency", "MONDO:0013404": "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase", "MONDO:0013408": "FADD-related immunodeficiency", "MONDO:0013417": "complement component 3 deficiency", "MONDO:0013423": "immunodeficiency due to MASP-2 deficiency", "MONDO:0013424": "3p- syndrome", "MONDO:0013426": "aneurysm-osteoarthritis syndrome", "MONDO:0013427": "immunodeficiency 31B", "MONDO:0013433": "primary sclerosing cholangitis", "MONDO:0013439": "congenital bile acid synthesis defect 3", "MONDO:0013440": "autosomal recessive limb-girdle muscular dystrophy type 2P", "MONDO:0013452": "multisystemic smooth muscle dysfunction syndrome", "MONDO:0013456": "constitutional megaloblastic anemia with severe neurologic disease", "MONDO:0013458": "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome", "MONDO:0013461": "inosine triphosphatase deficiency", "MONDO:0013464": "episodic ataxia type 5", "MONDO:0013467": "immunodeficiency due to ficolin3 deficiency", "MONDO:0013472": "fatal infantile hypertonic myofibrillar myopathy", "MONDO:0013478": "PLIN1-related familial partial lipodystrophy", "MONDO:0013481": "chromosome 13q14 deletion syndrome", "MONDO:0013485": "spinocerebellar ataxia type 35", "MONDO:0013486": "spinocerebellar ataxia type 32", "MONDO:0013487": "recurrent Neisseria infections due to factor D deficiency", "MONDO:0013512": "hemoglobin H disease", "MONDO:0013523": "Nestor-Guillermo progeria syndrome", "MONDO:0013526": "progressive myoclonic epilepsy type 6", "MONDO:0013531": "PSPH deficiency", "MONDO:0013533": "hyperlipidemia due to hepatic triglyceride lipase deficiency", "MONDO:0013536": "heme oxygenase 1 deficiency", "MONDO:0013539": "hypotonia-failure to thrive-microcephaly syndrome", "MONDO:0013540": "deafness-lymphedema-leukemia syndrome", "MONDO:0013541": "complex cortical dysplasia with other brain malformations 1", "MONDO:0013546": "mitochondrial complex V (ATP synthase) deficiency nuclear type 2", "MONDO:0013550": "distal myopathy with posterior leg and anterior hand involvement", "MONDO:0013559": "Hermansky-Pudlak syndrome 7", "MONDO:0013560": "Hermansky-Pudlak syndrome 8", "MONDO:0013561": "chondrodysplasia with joint dislocations, gPAPP type", "MONDO:0013563": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "MONDO:0013569": "short-rib thoracic dysplasia 7 with or without polydactyly", "MONDO:0013570": "combined oxidative phosphorylation defect type 8", "MONDO:0013571": "acatalasia", "MONDO:0013572": "Keppen-Lubinsky syndrome", "MONDO:0013574": "cutis laxa - Marfanoid syndrome", "MONDO:0013576": "recurrent infections associated with rare immunoglobulin isotypes deficiency", "MONDO:0013577": "Lipedema (disease)", "MONDO:0013578": "DYRK1A-related intellectual disability syndrome", "MONDO:0013579": "methylmalonate semialdehyde dehydrogenase deficiency", "MONDO:0013580": "pyruvate dehydrogenase E1-beta deficiency", "MONDO:0013583": "occipital pachygyria and polymicrogyria", "MONDO:0013584": "hereditary sensory neuropathy-deafness-dementia syndrome", "MONDO:0013587": "glycogen storage disease due to lactate dehydrogenase H-subunit deficiency", "MONDO:0013594": "spinocerebellar ataxia type 36", "MONDO:0013595": "hyperbiliverdinemia", "MONDO:0013598": "myostatin-related muscle hypertrophy", "MONDO:0013599": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome", "MONDO:0013606": "Hermansky-Pudlak syndrome 9", "MONDO:0013607": "monocytopenia with susceptibility to infections", "MONDO:0013614": "hypertelorism-preauricular sinus-punctual pits-deafness syndrome", "MONDO:0013615": "craniosynostosis and dental anomalies", "MONDO:0013621": "LAMB2-related infantile-onset nephrotic syndrome", "MONDO:0013622": "platelet-type bleeding disorder 9", "MONDO:0013623": "platelet-type bleeding disorder 11", "MONDO:0013626": "psoriasis 14, pustular", "MONDO:0013640": "familial retinal arterial macroaneurysm", "MONDO:0013644": "Charcot-Marie-Tooth disease axonal type 2O", "MONDO:0013645": "autosomal recessive spinocerebellar ataxia 11", "MONDO:0013646": "chromosome 8q21.11 deletion syndrome", "MONDO:0013648": "familial progressive hyperpigmentation", "MONDO:0013656": "intellectual disability, autosomal dominant 9", "MONDO:0013659": "microcephaly-capillary malformation syndrome", "MONDO:0013661": "combined malonic and methylmalonic acidemia", "MONDO:0013662": "Barrett esophagus", "MONDO:0013664": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency", "MONDO:0013668": "tetrasomy 18p", "MONDO:0013673": "Wolfram-like syndrome", "MONDO:0013674": "neurodegeneration with brain iron accumulation 4", "MONDO:0013675": "multiple mitochondrial dysfunctions syndrome 2", "MONDO:0013678": "EDICT syndrome", "MONDO:0013686": "distal myopathy, Tateyama type", "MONDO:0013687": "autosomal recessive spinocerebellar ataxia 12", "MONDO:0013688": "linear and whorled nevoid hypermelanosis", "MONDO:0013691": "Feingold syndrome type 2", "MONDO:0013692": "BAP1-related tumor predisposition syndrome", "MONDO:0013700": "pancreatic triacylglycerol lipase deficiency", "MONDO:0013711": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "MONDO:0013722": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism", "MONDO:0013726": "lethal encephalopathy due to mitochondrial and peroxisomal fission defect", "MONDO:0013730": "graft versus host disease", "MONDO:0013731": "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome", "MONDO:0013735": "microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome", "MONDO:0013737": "hereditary spastic paraplegia 46", "MONDO:0013740": "lethal occipital encephalocele-skeletal dysplasia syndrome", "MONDO:0013742": "familial mesial temporal lobe epilepsy with febrile seizures", "MONDO:0013743": "autosomal systemic lupus erythematosus", "MONDO:0013753": "Charcot-Marie-Tooth disease axonal type 2P", "MONDO:0013755": "PYCR1-related de Barsy syndrome", "MONDO:0013758": "Charcot-Marie-Tooth disease dominant intermediate E", "MONDO:0013759": "MITF-related melanoma and renal cell carcinoma predisposition syndrome", "MONDO:0013760": "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome", "MONDO:0013761": "childhood encephalopathy due to thiamine pyrophosphokinase deficiency", "MONDO:0013762": "lipoic acid synthetase deficiency", "MONDO:0013766": "familial cold autoinflammatory syndrome 3", "MONDO:0013767": "autoimmune lymphoproliferative syndrome type 4", "MONDO:0013771": "transient infantile hypertriglyceridemia and hepatosteatosis", "MONDO:0013772": "congenital cataract-hearing loss-severe developmental delay syndrome", "MONDO:0013775": "thrombomodulin-related bleeding disorder", "MONDO:0013776": "spastic ataxia 5", "MONDO:0013777": "pseudohypoaldosteronism type 2B", "MONDO:0013778": "pseudohypoaldosteronism type 2C", "MONDO:0013781": "pseudohypoaldosteronism type 2D", "MONDO:0013782": "pseudohypoaldosteronism type 2E", "MONDO:0013784": "lethal neonatal spasticity-epileptic encephalopathy syndrome", "MONDO:0013789": "DDOST-CDG", "MONDO:0013796": "chromosome 17q12 duplication syndrome", "MONDO:0013797": "chromosome 17q12 deletion syndrome", "MONDO:0013798": "chromosome 16q22 deletion syndrome", "MONDO:0013800": "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type", "MONDO:0013802": "infantile cerebellar-retinal degeneration", "MONDO:0013803": "LCC", "MONDO:0013806": "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome", "MONDO:0013808": "Maffucci syndrome", "MONDO:0013810": "COG6-CGD", "MONDO:0013811": "combined oxidative phosphorylation defect type 9", "MONDO:0013813": "dystonia 21", "MONDO:0013815": "FGFR2-related bent bone dysplasia", "MONDO:0013825": "congenital diarrhea 6", "MONDO:0013836": "familial steroid-resistant nephrotic syndrome with sensorineural deafness", "MONDO:0013837": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome", "MONDO:0013839": "hereditary sensory and autonomic neuropathy type 6", "MONDO:0013840": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "MONDO:0013843": "intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency", "MONDO:0013847": "chromosome 16p11.2 duplication syndrome", "MONDO:0013851": "autosomal dominant aplasia and myelodysplasia", "MONDO:0013858": "pontine tegmental cap dysplasia", "MONDO:0013860": "idiopathic membranous glomerulonephritis", "MONDO:0013863": "combined immunodeficiency due to LRBA deficiency", "MONDO:0013865": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency", "MONDO:0013866": "neuronal ceroid lipofuscinosis 11", "MONDO:0013867": "brown-Vialetto-van Laere syndrome 2", "MONDO:0013869": "adenine phosphoribosyltransferase deficiency", "MONDO:0013870": "TMEM165-CDG", "MONDO:0013873": "IMAGe syndrome", "MONDO:0013875": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "MONDO:0013877": "mitochondrial pyruvate carrier deficiency", "MONDO:0013881": "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome", "MONDO:0013885": "Malan overgrowth syndrome", "MONDO:0013886": "nonprogressive cerebellar atxia with mental retardation", "MONDO:0013889": "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome", "MONDO:0013890": "congenital myopathy with internal nuclei and atypical cores", "MONDO:0013892": "C3 glomerulonephritis", "MONDO:0013894": "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome", "MONDO:0013898": "karyomegalic interstitial nephritis", "MONDO:0013905": "autosomal recessive spinocerebellar ataxia 13", "MONDO:0013907": "bilateral generalized polymicrogyria", "MONDO:0013918": "distal tetrasomy 15q", "MONDO:0013922": "Seckel syndrome 7", "MONDO:0013925": "methylmalonic acidemia with homocystinuria, type cblJ", "MONDO:0013928": "dystonia 23", "MONDO:0013934": "combined immunodeficiency due to STK4 deficiency", "MONDO:0013941": "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria", "MONDO:0013944": "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation", "MONDO:0013947": "young adult-onset distal hereditary motor neuropathy", "MONDO:0013954": "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency", "MONDO:0013955": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency", "MONDO:0013956": "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency", "MONDO:0013957": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency", "MONDO:0013959": "Charcot-Marie-Tooth disease type 4F", "MONDO:0013960": "sinoatrial node dysfunction and deafness", "MONDO:0013962": "hereditary spastic paraplegia 53", "MONDO:0013968": "PGM1-CDG", "MONDO:0013969": "combined oxidative phosphorylation defect type 11", "MONDO:0013970": "branched-chain keto acid dehydrogenase kinase deficiency", "MONDO:0013971": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome", "MONDO:0013972": "Perrault syndrome 2", "MONDO:0013977": "combined oxidative phosphorylation defect type 13", "MONDO:0013981": "familial cortical myoclonus", "MONDO:0013986": "combined oxidative phosphorylation defect type 14", "MONDO:0013987": "combined oxidative phosphorylation defect type 15", "MONDO:0013990": "pontocerebellar hypoplasia type 8", "MONDO:0013991": "obesity due to congenital leptin deficiency", "MONDO:0013992": "obesity due to leptin receptor gene deficiency", "MONDO:0013993": "pontocerebellar hypoplasia type 7", "MONDO:0013996": "focal facial dermal dysplasia type II", "MONDO:0013997": "focal facial dermal dysplasia type IV", "MONDO:0013999": "optic nerve edema-splenomegaly syndrome", "MONDO:0014005": "immunoglobulin-mediated membranoproliferative glomerulonephritis", "MONDO:0014006": "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome", "MONDO:0014012": "Charcot-Marie-Tooth disease axonal type 2Q", "MONDO:0014013": "maternal riboflavin deficiency", "MONDO:0014014": "epidermolysis bullosa simplex due to exophilin 5 deficiency", "MONDO:0014015": "hereditary spastic paraplegia 56", "MONDO:0014016": "hereditary spastic paraplegia 49", "MONDO:0014017": "intellectual developmental disorder with autism and macrocephaly", "MONDO:0014018": "hereditary spastic paraplegia 54", "MONDO:0014019": "dystonia 24", "MONDO:0014020": "hereditary spastic paraplegia 55", "MONDO:0014021": "familial episodic pain syndrome with predominantly upper body involvement", "MONDO:0014023": "congenital muscular dystrophy with intellectual disability and severe epilepsy", "MONDO:0014024": "hereditary spastic paraplegia 43", "MONDO:0014025": "lower motor neuron syndrome with late-adult onset", "MONDO:0014028": "distal arthrogryposis type 5D", "MONDO:0014031": "microcephalic primordial dwarfism, Alazami type", "MONDO:0014033": "dystonia 25", "MONDO:0014034": "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "MONDO:0014035": "severe intellectual disability-progressive spastic diplegia syndrome", "MONDO:0014039": "mitochondrial DNA depletion syndrome 11", "MONDO:0014043": "microcephalic primordial dwarfism due to ZNF335 deficiency", "MONDO:0014044": "dysmorphism-conductive hearing loss-heart defect syndrome", "MONDO:0014058": "facial dysmorphism-immunodeficiency-livedo-short stature syndrome", "MONDO:0014060": "progressive retinal dystrophy due to retinol transport defect", "MONDO:0014061": "Steel syndrome", "MONDO:0014062": "mitochondrial DNA deletion syndrome with progressive myopathy", "MONDO:0014067": "short ulna-dysmorphism-hypotonia-intellectual disability syndrome", "MONDO:0014069": "syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome", "MONDO:0014070": "oculocutaneous albinism type 7", "MONDO:0014072": "D,L-2-hydroxyglutaric aciduria", "MONDO:0014074": "Charcot-Marie-Tooth disease dominant intermediate f", "MONDO:0014077": "cobblestone lissencephaly without muscular or ocular involvement", "MONDO:0014080": "osteosclerotic metaphyseal dysplasia", "MONDO:0014081": "severe combined immunodeficiency due to CARD11 deficiency", "MONDO:0014082": "cryptosporidiosis-chronic cholangitis-liver disease syndrome", "MONDO:0014089": "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome", "MONDO:0014094": "severe congenital hypochromic anemia with ringed sideroblasts", "MONDO:0014096": "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome", "MONDO:0014097": "congenital short bowel syndrome", "MONDO:0014098": "CIDEC-related familial partial lipodystrophy", "MONDO:0014115": "hypomyelination with brain stem and spinal cord involvement and leg spasticity", "MONDO:0014117": "Charcot-Marie-Tooth disease type 4B3", "MONDO:0014118": "congenital neutropenia-myelofibrosis-nephromegaly syndrome", "MONDO:0014119": "intellectual disability-strabismus syndrome", "MONDO:0014121": "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures", "MONDO:0014127": "oculocutaneous albinism type 5", "MONDO:0014128": "craniosynostosis 3", "MONDO:0014131": "hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome", "MONDO:0014132": "multiple mitochondrial dysfunctions syndrome 3", "MONDO:0014139": "Ehlers-Danlos syndrome, progeroid type, 2", "MONDO:0014142": "autosomal recessive limb-girdle muscular dystrophy type 2T", "MONDO:0014144": "autosomal recessive limb-girdle muscular dystrophy type 2S", "MONDO:0014147": "neuronal ceroid lipofuscinosis 13", "MONDO:0014148": "estrogen resistance syndrome", "MONDO:0014149": "fetal akinesia-cerebral and retinal hemorrhage syndrome", "MONDO:0014154": "Charcot-Marie-Tooth disease recessive intermediate c", "MONDO:0014157": "mandibular hypoplasia-deafness-progeroid syndrome", "MONDO:0014159": "autosomal recessive spinocerebellar ataxia 14", "MONDO:0014160": "TCR-alpha-beta-positive T-cell deficiency", "MONDO:0014162": "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency", "MONDO:0014165": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "MONDO:0014168": "severe combined immunodeficiency due to CORO1A deficiency", "MONDO:0014176": "hypotonia, infantile, with psychomotor retardation and characteristic facies", "MONDO:0014180": "epidermolysis bullosa simplex due to BP230 deficiency", "MONDO:0014185": "chromosome 3q13.31 deletion syndrome", "MONDO:0014190": "combined oxidative phosphorylation defect type 17", "MONDO:0014195": "microcornea-myopic chorioretinal atrophy-telecanthus syndrome", "MONDO:0014196": "Hartsfield-Bixler-Demyer syndrome", "MONDO:0014197": "combined immunodeficiency due to MALT1 deficiency", "MONDO:0014198": "mitochondrial DNA depletion syndrome 13", "MONDO:0014200": "aldosterone-producing adenoma with seizures and neurological abnormalities", "MONDO:0014201": "early infantile epileptic encephalopathy without suppression burst", "MONDO:0014205": "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome", "MONDO:0014206": "severe early-onset pulmonary alveolar proteinosis due to MARS deficiency", "MONDO:0014208": "Charcot-Marie-Tooth disease type 2R", "MONDO:0014209": "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome", "MONDO:0014210": "intellectual disability-hypotonia-spasticity-sleep disorder syndrome", "MONDO:0014212": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "MONDO:0014213": "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome", "MONDO:0014218": "severe dermatitis-multiple allergies-metabolic wasting syndrome", "MONDO:0014221": "triosephosphate isomerase deficiency", "MONDO:0014224": "developmental delay with autism spectrum disorder and gait instability", "MONDO:0014225": "hemochromatosis type 5", "MONDO:0014226": "idiopathic CD4 lymphocytopenia", "MONDO:0014227": "hypopigmentation-punctate palmoplantar keratoderma syndrome", "MONDO:0014234": "reticulate acropigmentation of Kitamura", "MONDO:0014238": "severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome", "MONDO:0014243": "Prader-Willi syndrome due to point mutation", "MONDO:0014244": "hereditary sensory and autonomic neuropathy type 7", "MONDO:0014247": "familial episodic pain syndrome with predominantly lower limb involvement", "MONDO:0014248": "autism spectrum disorder - epilepsy - arthrogryposis syndrome", "MONDO:0014249": "multiple fibroadenoma of the breast", "MONDO:0014250": "familial hyperprolactinemia", "MONDO:0014258": "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome", "MONDO:0014261": "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome", "MONDO:0014263": "8q24.3 microdeletion syndrome", "MONDO:0014267": "severe combined immunodeficiency due to IKK2 deficiency", "MONDO:0014268": "combined immunodeficiency due to OX40 deficiency", "MONDO:0014269": "combined oxidative phosphorylation deficiency 19", "MONDO:0014270": "STT3A-CDG", "MONDO:0014271": "STT3B-CDG", "MONDO:0014272": "palmoplantar keratoderma, Nagashima type", "MONDO:0014273": "microcephaly-thin corpus callosum-intellectual disability syndrome", "MONDO:0014274": "L-ferritin deficiency", "MONDO:0014276": "combined immunodeficiency due to CD3gamma deficiency", "MONDO:0014282": "hereditary spastic paraplegia 72", "MONDO:0014289": "macrocephaly-developmental delay syndrome", "MONDO:0014290": "neurodegeneration with brain iron accumulation 6", "MONDO:0014292": "leukoencephalopathy with mild cerebellar ataxia and white matter edema", "MONDO:0014294": "chromosome 15q11.2 deletion syndrome", "MONDO:0014295": "hereditary spastic paraplegia 57", "MONDO:0014298": "chromosome 5q12 deletion syndrome", "MONDO:0014300": "proximal myopathy with extrapyramidal signs", "MONDO:0014302": "hereditary spastic paraplegia 62", "MONDO:0014303": "hereditary spastic paraplegia 64", "MONDO:0014304": "hereditary spastic paraplegia 61", "MONDO:0014305": "hereditary spastic paraplegia 63", "MONDO:0014306": "vasculitis due to ADA2 deficiency", "MONDO:0014309": "obesity due to CEP19 deficiency", "MONDO:0014310": "hereditary sclerosing poikiloderma with tendon and pulmonary involvement", "MONDO:0014311": "autosomal recessive spinocerebellar ataxia 15", "MONDO:0014313": "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity", "MONDO:0014314": "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome", "MONDO:0014317": "pancytopenia-developmental delay syndrome", "MONDO:0014320": "optic atrophy-intellectual disability syndrome", "MONDO:0014327": "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering", "MONDO:0014331": "Moyamoya disease with early-onset achalasia", "MONDO:0014332": "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "MONDO:0014334": "severe combined immunodeficiency due to LCK deficiency", "MONDO:0014335": "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "MONDO:0014336": "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency", "MONDO:0014338": "IL21-related infantile inflammatory bowel disease", "MONDO:0014339": "autosomal recessive spinocerebellar ataxia 16", "MONDO:0014342": "female infertility due to zona pellucida defect", "MONDO:0014349": "pontocerebellar hypoplasia type 10", "MONDO:0014351": "pontocerebellar hypoplasia type 9", "MONDO:0014353": "PGM3-CDG", "MONDO:0014355": "cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis", "MONDO:0014358": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome", "MONDO:0014361": "autism spectrum disorder due to AUTS2 deficiency", "MONDO:0014369": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome", "MONDO:0014371": "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "MONDO:0014375": "congenital diarrhea 7 with exudative enteropathy", "MONDO:0014379": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "MONDO:0014380": "colobomatous microphthalmia-rhizomelic dysplasia syndrome", "MONDO:0014381": "cholestasis, progressive familial intrahepatic, 4", "MONDO:0014382": "tall stature-intellectual disability-facial dysmorphism syndrome", "MONDO:0014386": "platelet-type bleeding disorder 18", "MONDO:0014388": "familial median cleft of the upper and lower lips", "MONDO:0014389": "polyglucosan body myopathy 1 with or without immunodeficiency", "MONDO:0014391": "severe combined immunodeficiency due to CTPS1 deficiency", "MONDO:0014397": "combined oxidative phosphorylation defect type 20", "MONDO:0014398": "combined oxidative phosphorylation defect type 21", "MONDO:0014399": "PCNA-related progressive neurodegenerative photosensitivy syndrome", "MONDO:0014401": "tall stature-scoliosis-macrodactyly of the great toes syndrome", "MONDO:0014402": "severe neurodegenerative syndrome with lipodystrophy", "MONDO:0014403": "short stature due to GHSR deficiency", "MONDO:0014404": "Webb-Dattani syndrome", "MONDO:0014405": "STING-associated vasculopathy with onset in infancy", "MONDO:0014410": "spinocerebellar ataxia type 37", "MONDO:0014412": "hyperlipoproteinemia, type 1D", "MONDO:0014413": "orofaciodigital syndrome type 14", "MONDO:0014414": "STAT3-related early-onset multisystem autoimmune disease", "MONDO:0014417": "spinocerebellar ataxia type 38", "MONDO:0014419": "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome", "MONDO:0014420": "short stature due to primary acid-labile subunit deficiency", "MONDO:0014421": "glucocorticoid resistance", "MONDO:0014423": "severe combined immunodeficiency due to DNA-PKcs deficiency", "MONDO:0014424": "congenital deficiency in alpha-fetoprotein", "MONDO:0014425": "hereditary persistence of alpha-fetoprotein", "MONDO:0014429": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "MONDO:0014431": "LIPE-related familial partial lipodystrophy", "MONDO:0014448": "hyperthyroxinemia, familial dysalbuminemic", "MONDO:0014449": "congenital analbuminemia", "MONDO:0014452": "familial dysfibrinogenemia", "MONDO:0014455": "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome", "MONDO:0014456": "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency", "MONDO:0014460": "nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome", "MONDO:0014464": "progressive encephalopathy with leukodystrophy due to DECR deficiency", "MONDO:0014466": "Neu-Laxova syndrome 2", "MONDO:0014467": "Charcot-Marie-Tooth disease recessive intermediate d", "MONDO:0014471": "mitochondrial proton-transporting ATP synthase complex deficiency", "MONDO:0014472": "periodic fever-infantile enterocolitis-autoinflammatory syndrome", "MONDO:0014474": "autosomal recessive limb-girdle muscular dystrophy type 2U", "MONDO:0014475": "spinocerebellar ataxia type 40", "MONDO:0014476": "episodic ataxia type 8", "MONDO:0014483": "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies", "MONDO:0014487": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome", "MONDO:0014489": "limb-girdle muscular dystrophy due to POMK deficiency", "MONDO:0014490": "ketoacidosis due to monocarboxylate transporter-1 deficiency", "MONDO:0014492": "woolly hair-palmoplantar keratoderma syndrome", "MONDO:0014493": "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency", "MONDO:0014495": "retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome", "MONDO:0014497": "polyendocrine-polyneuropathy syndrome", "MONDO:0014498": "familial cold autoinflammatory syndrome 4", "MONDO:0014500": "atrial conduction disease", "MONDO:0014502": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency", "MONDO:0014503": "autosomal recessive spinocerebellar ataxia 17", "MONDO:0014506": "hypomyelinating leukodystrophy 9", "MONDO:0014507": "Catel-Manzke syndrome", "MONDO:0014510": "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency", "MONDO:0014511": "Charcot-Marie-Tooth disease axonal type 2S", "MONDO:0014512": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation", "MONDO:0014518": "platelet-type bleeding disorder 19", "MONDO:0014520": "46,XX ovarian dysgenesis-short stature syndrome", "MONDO:0014521": "progressive myoclonic epilepsy type 7", "MONDO:0014523": "juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome", "MONDO:0014525": "combined oxidative phosphorylation defect type 23", "MONDO:0014526": "polyglucosan body myopathy type 2", "MONDO:0014527": "progeroid features-hepatocellular carcinoma predisposition syndrome", "MONDO:0014528": "chronic atrial and intestinal dysrhythmia", "MONDO:0014529": "cerebellar-facial-dental syndrome", "MONDO:0014530": "autosomal recessive spinocerebellar ataxia 18", "MONDO:0014532": "autosomal dominant mitochondrial myopathy with exercise intolerance", "MONDO:0014541": "motor developmental delay due to 14q32.2 paternally expressed gene defect", "MONDO:0014545": "progressive myoclonic epilepsy type 8", "MONDO:0014546": "myopathy due to calsequestrin and SERCA1 protein overload", "MONDO:0014547": "combined oxidative phosphorylation defect type 24", "MONDO:0014552": "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome", "MONDO:0014555": "peeling skin syndrome type A", "MONDO:0014556": "congenital contractures of the limbs and face, hypotonia, and developmental delay", "MONDO:0014557": "ataxia - oculomotor apraxia type 4", "MONDO:0014558": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "MONDO:0014559": "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome", "MONDO:0014561": "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia", "MONDO:0014562": "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome", "MONDO:0014563": "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency", "MONDO:0014566": "Charcot-Marie-Tooth disease axonal type 2U", "MONDO:0014567": "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome", "MONDO:0014568": "hereditary spastic paraplegia 73", "MONDO:0014572": "Lichtenstein-Knorr syndrome", "MONDO:0014574": "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome", "MONDO:0014576": "lipoyl transferase 1 deficiency", "MONDO:0014597": "immunodeficiency 39", "MONDO:0014601": "autosomal recessive spinocerebellar ataxia 20", "MONDO:0014602": "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome", "MONDO:0014605": "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome", "MONDO:0014606": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "MONDO:0014608": "mandibulofacial dysostosis with alopecia", "MONDO:0014609": "cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome", "MONDO:0014611": "multiple mitochondrial dysfunctions syndrome 4", "MONDO:0014622": "isolated focal non-epidermolytic palmoplantar keratoderma", "MONDO:0014626": "spinocerebellar ataxia type 41", "MONDO:0014627": "dystonia 27", "MONDO:0014629": "autoimmune interstitial lung disease-arthritis syndrome", "MONDO:0014630": "NTHL1-related attenuated familial adenomatous polyposis", "MONDO:0014633": "myoclonic-atonic epilepsy", "MONDO:0014636": "combined oxidative phosphorylation defect type 25", "MONDO:0014637": "DOCK2 deficiency", "MONDO:0014643": "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome", "MONDO:0014644": "hereditary spastic paraplegia 74", "MONDO:0014645": "BENTA disease", "MONDO:0014647": "CAD-CDG", "MONDO:0014658": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "MONDO:0014662": "congenital insensitivity to pain-hypohidrosis syndrome", "MONDO:0014665": "Charcot-Marie-Tooth disease axonal type 2V", "MONDO:0014684": "combined oxidative phosphorylation defect type 26", "MONDO:0014685": "progressive myoclonic epilepsy type 9", "MONDO:0014689": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome", "MONDO:0014698": "microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "MONDO:0014700": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation", "MONDO:0014701": "spondyloepiphyseal dysplasia, Stanescu type", "MONDO:0014702": "autosomal recessive complex spastic paraplegia type 9B", "MONDO:0014704": "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome", "MONDO:0014705": "craniosynostosis 6", "MONDO:0014707": "14q32 duplication syndrome", "MONDO:0014708": "ring chromosome 14", "MONDO:0014710": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency", "MONDO:0014711": "autosomal dominant Charcot-Marie-Tooth disease type 2W", "MONDO:0014714": "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "MONDO:0014715": "primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection", "MONDO:0014716": "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "MONDO:0014717": "early-onset Lafora body disease", "MONDO:0014719": "ITPA-related encephalopathy", "MONDO:0014720": "autosomal dominant optic atrophy plus syndrome", "MONDO:0014722": "Roifman syndrome", "MONDO:0014723": "PMP22-RAI1 contiguous gene duplication syndrome", "MONDO:0014725": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", "MONDO:0014726": "Charcot-Marie-Tooth disease axonal type 2X", "MONDO:0014728": "combined oxidative phosphorylation defect type 27", "MONDO:0014729": "hereditary spastic paraplegia 75", "MONDO:0014731": "seizures-scoliosis-macrocephaly syndrome", "MONDO:0014732": "hypomyelinating leukodystrophy 12", "MONDO:0014733": "Charcot-Marie-Tooth disease type 4K", "MONDO:0014735": "Charcot-Marie-Tooth disease type 2Y", "MONDO:0014736": "Charcot-Marie-Tooth disease axonal type 2Z", "MONDO:0014741": "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation", "MONDO:0014743": "rhizomelic chondrodysplasia punctata type 5", "MONDO:0014744": "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome", "MONDO:0014746": "SLC39A8-CDG", "MONDO:0014747": "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome", "MONDO:0014748": "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome", "MONDO:0014751": "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome", "MONDO:0014753": "autosomal recessive optic atrophy", "MONDO:0014757": "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome", "MONDO:0014760": "TFRC-related combined immunodeficiency", "MONDO:0014764": "spastic paraplegia-severe developmental delay-epilepsy syndrome", "MONDO:0014773": "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "MONDO:0014775": "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect", "MONDO:0014776": "spinocerebellar ataxia type 42", "MONDO:0014778": "Lamb-Shaffer syndrome", "MONDO:0014781": "combined oxidative phosphorylation deficiency 29", "MONDO:0014782": "autosomal recessive limb-girdle muscular dystrophy type 2X", "MONDO:0014784": "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome", "MONDO:0014787": "severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome", "MONDO:0014788": "autosomal recessive limb-girdle muscular dystrophy type 2W", "MONDO:0014789": "CCDC115-CDG", "MONDO:0014790": "TMEM199-CDG", "MONDO:0014791": "Luscan-Lumish syndrome", "MONDO:0014793": "microcephaly-congenital cataract-psoriasiform dermatitis syndrome", "MONDO:0014797": "lymphedema, hereditary, type III", "MONDO:0014800": "progressive scapulohumeroperoneal distal myopathy", "MONDO:0014801": "even-plus syndrome", "MONDO:0014803": "spasticity-ataxia-gait anomalies syndrome", "MONDO:0014804": "sideroblastic anemia 3", "MONDO:0014805": "16p13.2 microdeletion syndrome", "MONDO:0014809": "DDX41-related hematologic malignancy predisposition syndrome", "MONDO:0014810": "pancytopenia due to IKZF1 mutations", "MONDO:0014816": "split-foot malformation-mesoaxial polydactyly syndrome", "MONDO:0014821": "complex lethal osteochondrodysplasia", "MONDO:0014822": "15q14 microdeletion syndrome", "MONDO:0014823": "TBCK-related intellectual disability syndrome", "MONDO:0014827": "autosomal recessive spastic paraplegia type 76", "MONDO:0014830": "platelet-type bleeding disorder 20", "MONDO:0014831": "progeroid and marfanoid aspect-lipodystrophy syndrome", "MONDO:0014832": "intellectual disability, autosomal recessive 53", "MONDO:0014837": "hereditary thrombocytopenia with early-onset myelofibrosis", "MONDO:0014846": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency", "MONDO:0014848": "TELO2-related intellectual disability-neurodevelopmental disorder", "MONDO:0014855": "intellectual disability, autosomal dominant 42", "MONDO:0014856": "combined oxidative phosphorylation defect type 30", "MONDO:0014857": "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart", "MONDO:0014864": "hypermanganesemia with dystonia 2", "MONDO:0014865": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency", "MONDO:0014866": "Charcot-Marie-Tooth disease axonal type 2T", "MONDO:0014867": "spinocerebellar ataxia 43", "MONDO:0014869": "hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome", "MONDO:0014870": "NEK9-related lethal skeletal dysplasia", "MONDO:0014873": "nevus comedonicus syndrome", "MONDO:0014875": "hyperaldosteronism, familial, type IV", "MONDO:0014877": "myopathy, distal, 5", "MONDO:0014881": "transketolase deficiency", "MONDO:0014882": "hereditary spastic paraplegia 77", "MONDO:0014884": "cholestasis, progressive familial intrahepatic, 5", "MONDO:0014885": "Hermansky-Pudlak syndrome 10", "MONDO:0014886": "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome", "MONDO:0014888": "MIRAGE syndrome", "MONDO:0014889": "striatonigral degeneration, childhood-onset", "MONDO:0014890": "cold-induced sweating syndrome 3", "MONDO:0014892": "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome", "MONDO:0014896": "congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome", "MONDO:0014899": "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "MONDO:0014900": "autosomal recessive limb-girdle muscular dystrophy type 2Y", "MONDO:0014905": "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome", "MONDO:0014911": "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy", "MONDO:0014912": "infantile-onset periodic fever-panniculitis-dermatosis syndrome", "MONDO:0014918": "tall stature-intellectual disability-renal anomalies syndrome", "MONDO:0014920": "patterned macular dystrophy 3", "MONDO:0014936": "ZTTK syndrome", "MONDO:0014944": "short stature-brachydactyly-obesity-global developmental delay syndrome", "MONDO:0014946": "Sifrim-Hitz-Weiss syndrome", "MONDO:0014948": "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay", "MONDO:0014952": "intellectual disability-epilepsy-extrapyramidal syndrome", "MONDO:0014953": "intellectual developmental disorder with cardiac arrhythmia", "MONDO:0014958": "Harel-Yoon syndrome", "MONDO:0014969": "isolated sedoheptulokinase deficiency", "MONDO:0014975": "autosomal recessive spastic paraplegia type 78", "MONDO:0014976": "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome", "MONDO:0014977": "autosomal recessive limb-girdle muscular dystrophy type 2Z", "MONDO:0015003": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities", "MONDO:0015004": "dystonia 28, childhood-onset", "MONDO:0015006": "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss", "MONDO:0015007": "spastic paraplegia, intellectual disability, nystagmus, and obesity;", "MONDO:0015010": "atypical glycine encephalopathy", "MONDO:0015012": "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders", "MONDO:0015014": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness", "MONDO:0015017": "anterior segment dysgenesis 8", "MONDO:0015021": "hypotonia, ataxia, and delayed development syndrome", "MONDO:0015027": "familial isolated hyperparathyroidism", "MONDO:0015028": "48,XXYY syndrome", "MONDO:0015029": "reticular perineurioma", "MONDO:0015030": "sclerosing perineurioma", "MONDO:0015031": "extraneural perineurioma", "MONDO:0015032": "intraneural perineurioma", "MONDO:0015033": "ABeta amyloidosis, dutch type", "MONDO:0015034": "lissencephaly with cerebellar hypoplasia type A", "MONDO:0015035": "lissencephaly with cerebellar hypoplasia type B", "MONDO:0015036": "lissencephaly with cerebellar hypoplasia type C", "MONDO:0015037": "lissencephaly with cerebellar hypoplasia type D", "MONDO:0015038": "lissencephaly with cerebellar hypoplasia type E", "MONDO:0015039": "lissencephaly with cerebellar hypoplasia type F", "MONDO:0015040": "myelodysplastic syndrome with excess blasts-1", "MONDO:0015041": "myelodysplastic syndrome with excess blasts-2", "MONDO:0015042": "primary plasmacytoma of the bone", "MONDO:0015043": "extramedullary soft tissue plasmacytoma", "MONDO:0015044": "mu-heavy chain disease", "MONDO:0015045": "alpha-heavy chain disease", "MONDO:0015046": "gamma-heavy chain disease", "MONDO:0015047": "amelogenesis imperfecta type 1", "MONDO:0015048": "amelogenesis imperfecta type 2", "MONDO:0015049": "solitary necrotic nodule of the liver", "MONDO:0015050": "esophageal duplication cyst", "MONDO:0015051": "tubular duplication of the esophagus", "MONDO:0015052": "primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies", "MONDO:0015053": "hereditary angioedema type 1", "MONDO:0015054": "hereditary angioedema type 2", "MONDO:0015055": "acquired angioedema type 2", "MONDO:0015056": "acquired angioedema type 1", "MONDO:0015057": "renin-angiotensin-aldosterone system-blocker-induced angioedema", "MONDO:0015059": "progressive non-fluent aphasia", "MONDO:0015060": "mosaic trisomy 3", "MONDO:0015061": "neurogenic thoracic outlet syndrome", "MONDO:0015063": "duodenal neuroendocrine tumor, well differentiated, low or intermediate grade", "MONDO:0015064": "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade", "MONDO:0015065": "ileal neuroendocrine tumor, well differentiated, low or intermediate grade", "MONDO:0015066": "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade", "MONDO:0015069": "neuroendocrine tumor of the anal canal", "MONDO:0015070": "laryngeal neuroendocrine neoplasm", "MONDO:0015071": "middle ear neuroendocrine tumor", "MONDO:0015072": "liver neuroendocrine carcinoma", "MONDO:0015073": "gallbladder neuroendocrine tumor, grade 1/2", "MONDO:0015074": "thyroid tumor", "MONDO:0015075": "thyroid gland carcinoma", "MONDO:0015076": "obsolete rare parathyroid tumor", "MONDO:0015079": "multiple polyglandular tumor", "MONDO:0015081": "neuroendocrine tumor with other location", "MONDO:0015082": "alopecia antibody deficiency", "MONDO:0015083": "nuclear oculomotor paralysis", "MONDO:0015084": "FRAXF syndrome", "MONDO:0015085": "bathing suit ichthyosis", "MONDO:0015086": "cloverleaf skull-asphyxiating thoracic dysplasia syndrome", "MONDO:0015087": "autosomal dominant complex spastic paraplegia", "MONDO:0015088": "autosomal dominant pure spastic paraplegia", "MONDO:0015089": "autosomal recessive complex spastic paraplegia", "MONDO:0015090": "autosomal recessive pure spastic paraplegia", "MONDO:0015091": "autosomal dominant spastic paraplegia type 9", "MONDO:0015092": "cleft hard palate", "MONDO:0015093": "sub-cortical nodular heterotopia", "MONDO:0015094": "subependymal nodular heterotopia", "MONDO:0015095": "Peters anomaly-cataract syndrome", "MONDO:0015096": "familial hypofibrinogenemia", "MONDO:0015097": "aortic valve dysplasia", "MONDO:0015099": "unilateral hemispheric polymicrogyria", "MONDO:0015100": "aregenerative anemia", "MONDO:0015101": "Marin-Amat syndrome", "MONDO:0015102": "non-secreting chemodectoma", "MONDO:0015103": "pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome", "MONDO:0015104": "porphyria cutanea tarda", "MONDO:0015106": "obsolete rare urogenital disease", "MONDO:0015107": "obsolete rare genetic eye disease", "MONDO:0015108": "obsolete rare non-syndromic intellectual disability", "MONDO:0015109": "congenital anomaly of the mitral subvalvular apparatus", "MONDO:0015110": "genetic cardiac rhythm disease", "MONDO:0015111": "gastroesophageal disease", "MONDO:0015112": "obsolete rare pancreatic disease", "MONDO:0015113": "obsolete rare vascular liver disease", "MONDO:0015114": "obsolete rare parenchymal liver disease", "MONDO:0015115": "obsolete rare genetic metabolic liver disease", "MONDO:0015116": "obsolete rare biliary tract disease", "MONDO:0015117": "obsolete rare hepatic and biliary tract tumor", "MONDO:0015118": "rare pulmonary disease", "MONDO:0015119": "rare bronchopulmonary tumor", "MONDO:0015120": "obsolete rare acquired eye disease", "MONDO:0015121": "obsolete rare eye tumor", "MONDO:0015122": "obsolete rare diabetes mellitus", "MONDO:0015123": "obsolete rare inherited dyslipidemia", "MONDO:0015124": "obsolete rare adrenal disease", "MONDO:0015125": "obsolete rare thyroid disease", "MONDO:0015126": "polyendocrinopathy", "MONDO:0015127": "pituitary deficiency", "MONDO:0015128": "primary adrenal insufficiency", "MONDO:0015129": "chronic primary adrenal insufficiency", "MONDO:0015130": "acquired chronic primary adrenal insufficiency", "MONDO:0015131": "congenital combined immunodeficiency", "MONDO:0015132": "immunodeficiency predominantly affecting antibody production", "MONDO:0015133": "quantitative and/or qualitative congenital phagocyte defect", "MONDO:0015134": "constitutional neutropenia", "MONDO:0015135": "primary immunodeficiency due to a genetic defect in innate immunity", "MONDO:0015136": "immunodeficiency due to a genetic complement cascade protein anomaly", "MONDO:0015137": "periodic fever syndrome", "MONDO:0015139": "obsolete rare epilepsy", "MONDO:0015140": "early-onset autosomal dominant Alzheimer disease", "MONDO:0015141": "disorder of medulla oblongata", "MONDO:0015143": "obsolete rare movement disorder", "MONDO:0015144": "brain inflammatory disease", "MONDO:0015145": "neurovascular malformation", "MONDO:0015146": "classic lissencephaly", "MONDO:0015147": "other syndrome with lissencephaly as a major feature", "MONDO:0015148": "lissencephaly type 3", "MONDO:0015149": "pure hereditary spastic paraplegia", "MONDO:0015150": "complex hereditary spastic paraplegia", "MONDO:0015151": "autosomal dominant limb-girdle muscular dystrophy", "MONDO:0015152": "autosomal recessive limb-girdle muscular dystrophy", "MONDO:0015153": "autosomal monosomy", "MONDO:0015157": "human herpesvirus 8-related tumor", "MONDO:0015158": "unexplained periodic fever syndrome", "MONDO:0015159": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "MONDO:0015160": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome", "MONDO:0015161": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability", "MONDO:0015162": "obsolete rare syndromic intellectual disability", "MONDO:0015163": "primary glomerular disease", "MONDO:0015164": "acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent", "MONDO:0015165": "acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor", "MONDO:0015166": "acute myeloid leukemia with t(8;21)(q22;q22) translocation", "MONDO:0015167": "amniotic band syndrome", "MONDO:0015168": "arthrogryposis multiplex congenita", "MONDO:0015169": "chronic diarrhea due to glucoamylase deficiency", "MONDO:0015170": "congenital sodium diarrhea", "MONDO:0015171": "congenital enterocyte heparan sulfate deficiency", "MONDO:0015172": "epithelio-exfoliative colitis-deafness syndrome", "MONDO:0015173": "autoimmune enteropathy type 2", "MONDO:0015174": "autoimmune enteropathy type 3", "MONDO:0015175": "autoimmune pancreatitis", "MONDO:0015176": "undetermined colitis", "MONDO:0015177": "metaphyseal anadysplasia", "MONDO:0015178": "congenital intestinal transport defect", "MONDO:0015179": "intestinal disease due to vitamin absorption anomaly", "MONDO:0015180": "intestinal disease due to fat malabsorption", "MONDO:0015181": "congenital intestinal disease due to an enzymatic defect", "MONDO:0015182": "congenital enteropathy involving intestinal mucosa development", "MONDO:0015183": "short bowel syndrome", "MONDO:0015184": "obsolete rare disease involving intestinal motility", "MONDO:0015185": "intestinal polyposis syndrome", "MONDO:0015186": "obsolete rare tumor of intestine", "MONDO:0015187": "obsolete rare inflammatory bowel disease", "MONDO:0015188": "metabolic disease with intestinal involvement", "MONDO:0015191": "myopathic intestinal pseudoobstruction", "MONDO:0015192": "unclassified intestinal pseudoobstruction", "MONDO:0015193": "hydrops fetalis (disease)", "MONDO:0015194": "sideroblastic anemia", "MONDO:0015195": "atresia of urethra (disease)", "MONDO:0015196": "vein of Galen aneurysm", "MONDO:0015197": "aneurysm of sinus of Valsalva", "MONDO:0015198": "aniridia-ptosis-intellectual disability-familial obesity syndrome", "MONDO:0015199": "aniridia - intellectual disability syndrome", "MONDO:0015200": "anisakiasis", "MONDO:0015201": "ankyloblepharon filiforme-imperforate anus syndrome", "MONDO:0015203": "coronary artery congenital malformation", "MONDO:0015204": "microlissencephaly", "MONDO:0015205": "isolated lissencephaly type 1 without known genetic defects", "MONDO:0015206": "short stature-heart defect-craniofacial anomalies syndrome", "MONDO:0015207": "non-syndromic esophageal malformation", "MONDO:0015208": "syndromic esophageal malformation", "MONDO:0015209": "non-syndromic gastroduodenal malformation", "MONDO:0015210": "syndromic gastroduodenal malformation", "MONDO:0015211": "non-syndromic intestinal malformation", "MONDO:0015212": "syndromic intestinal malformation", "MONDO:0015213": "non-syndromic visceral malformation", "MONDO:0015214": "syndromic visceral malformation", "MONDO:0015215": "non-syndromic diaphragmatic or abdominal wall malformation", "MONDO:0015216": "syndromic diaphragmatic or abdominal wall malformation", "MONDO:0015217": "non-syndromic developmental defect of the eye", "MONDO:0015218": "syndromic developmental defect of the eye", "MONDO:0015219": "non-syndromic central nervous system malformation", "MONDO:0015220": "syndrome with a central nervous system malformation as major feature", "MONDO:0015221": "non-syndromic respiratory or mediastinal malformation", "MONDO:0015222": "syndromic respiratory or mediastinal malformation", "MONDO:0015223": "obsolete rare anemia", "MONDO:0015224": "obsolete rare intoxication", "MONDO:0015225": "arthrogryposis syndrome", "MONDO:0015226": "syndrome with limb malformations as a major feature", "MONDO:0015227": "non-syndromic limb malformation", "MONDO:0015228": "pentasomy X", "MONDO:0015229": "Bardet-Biedl syndrome", "MONDO:0015230": "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome", "MONDO:0015231": "Bartter syndrome", "MONDO:0015232": "radial deficiency-tibial hypoplasia syndrome", "MONDO:0015233": "caudal appendage-deafness syndrome", "MONDO:0015234": "arachnodactyly-abnormal ossification-intellectual disability syndrome", "MONDO:0015235": "arachnodactyly-intellectual disability-dysmorphism syndrome", "MONDO:0015236": "aortic arch defects", "MONDO:0015237": "arrhinia", "MONDO:0015239": "abnormal origin of the pulmonary artery", "MONDO:0015240": "digitotalar dysmorphism", "MONDO:0015241": "arthrogryposis-like syndrome", "MONDO:0015243": "allergic bronchopulmonary aspergillosis", "MONDO:0015244": "autosomal recessive cerebellar ataxia", "MONDO:0015245": "obsolete rare intestinal disease", "MONDO:0015246": "syndromic anorectal malformation", "MONDO:0015247": "opsoclonus-myoclonus syndrome", "MONDO:0015248": "ataxia-photosensitivity-short stature syndrome", "MONDO:0015249": "mitral atresia disorder", "MONDO:0015250": "spinal atrophy-ophthalmoplegia-pyramidal syndrome", "MONDO:0015252": "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "MONDO:0015253": "Diamond-Blackfan anemia", "MONDO:0015254": "schistosomiasis", "MONDO:0015255": "blepharophimosis-radioulnar synostosis syndrome", "MONDO:0015256": "blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome", "MONDO:0015257": "sino-auricular heart block", "MONDO:0015259": "brachydactyly-mesomelia-intellectual disability-heart defects syndrome", "MONDO:0015260": "diphyllobothriasis", "MONDO:0015261": "pseudopelade of Brocq", "MONDO:0015262": "brachyolmia", "MONDO:0015263": "Brugada syndrome", "MONDO:0015264": "cryptogenic organizing pneumonia", "MONDO:0015265": "bronchiolitis obliterans with obstructive pulmonary disease", "MONDO:0015267": "Feingold syndrome", "MONDO:0015268": "medullary sponge kidney", "MONDO:0015269": "symmetrical thalamic calcifications", "MONDO:0015270": "butyrylcholinesterase deficiency", "MONDO:0015271": "idiopathic camptocormia", "MONDO:0015272": "camptodactyly-taurinuria syndrome", "MONDO:0015273": "complete atrioventricular canal", "MONDO:0015274": "chronic beryllium disease", "MONDO:0015275": "partial atrioventricular canal", "MONDO:0015277": "medullary thyroid gland carcinoma", "MONDO:0015278": "familial pancreatic carcinoma", "MONDO:0015279": "chronic mucocutaneous candidiasis (disease)", "MONDO:0015280": "cardiofaciocutaneous syndrome", "MONDO:0015281": "atrial standstill", "MONDO:0015282": "cardiomyopathy-cataract-hip spine disease syndrome", "MONDO:0015283": "maternally-inherited cardiomyopathy and hearing loss", "MONDO:0015284": "heart-hand syndrome type 2", "MONDO:0015285": "Carney complex", "MONDO:0015286": "congenital disorder of glycosylation", "MONDO:0015288": "herpes simplex virus keratitis", "MONDO:0015289": "infectious epithelial keratitis", "MONDO:0015290": "neurotrophic keratopathy", "MONDO:0015291": "stromal keratitis", "MONDO:0015292": "endotheliitis", "MONDO:0015293": "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome", "MONDO:0015294": "nephrogenic systemic fibrosis", "MONDO:0015295": "intractable diarrhea-choanal atresia-eye anomalies syndrome", "MONDO:0015296": "cardiac anomalies-heterotaxy syndrome", "MONDO:0015297": "microcephaly-digital anomalies-intellectual disability syndrome", "MONDO:0015298": "pellucid marginal degeneration", "MONDO:0015299": "Asherman syndrome", "MONDO:0015300": "cataract - microcornea syndrome", "MONDO:0015301": "primary cutaneous amyloidosis", "MONDO:0015302": "nodular cutaneous amyloidosis", "MONDO:0015303": "macular amyloidosis", "MONDO:0015304": "arachnoiditis", "MONDO:0015305": "obsolete rare endometriosis", "MONDO:0015306": "Lemierre syndrome", "MONDO:0015307": "Madras motor neuron disease", "MONDO:0015308": "laminopathy type Decaudain-Vigouroux", "MONDO:0015310": "syndromic optic nerve hypoplasia", "MONDO:0015311": "autism-facial port-wine stain syndrome", "MONDO:0015312": "choanal atresia, unilateral", "MONDO:0015313": "choanal atresia, bilateral", "MONDO:0015314": "primary laryngeal lymphangioma", "MONDO:0015315": "neonatal brainstem dysfunction", "MONDO:0015316": "congenital laryngeal palsy", "MONDO:0015317": "laryngotracheal angioma", "MONDO:0015319": "rare disease with Pierre Robin syndrome", "MONDO:0015323": "teratogenic Pierre Robin syndrome", "MONDO:0015324": "cataract-intellectual disability-anal atresia-urinary defects syndrome", "MONDO:0015325": "cataract-deafness-hypogonadism syndrome", "MONDO:0015326": "night blindness-skeletal anomalies-dysmorphism syndrome", "MONDO:0015327": "developmental anomaly of metabolic origin", "MONDO:0015328": "obsolete rare bone development disorder", "MONDO:0015329": "malformation syndrome with short stature", "MONDO:0015330": "overgrowth/obesity syndrome", "MONDO:0015331": "malformation syndrome with skin/mucosae involvement", "MONDO:0015332": "rare developmental defect with connective tissue involvement", "MONDO:0015333": "progeroid syndrome", "MONDO:0015334": "branchial arch or oral-acral syndrome", "MONDO:0015335": "orofacial clefting syndrome", "MONDO:0015336": "malformation syndrome with odontal and/or periodontal component", "MONDO:0015337": "isolated craniosynostosis", "MONDO:0015338": "syndromic craniosynostosis", "MONDO:0015339": "adrenomyeloneuropathy", "MONDO:0015340": "drug rash with eosinophilia and systemic symptoms", "MONDO:0015341": "congenital panfollicular nevus (disease)", "MONDO:0015342": "acute transverse myelitis", "MONDO:0015343": "secondary acute transverse myelitis", "MONDO:0015344": "idiopathic acute transverse myelitis", "MONDO:0015345": "perioral myoclonia with absences", "MONDO:0015346": "Jeavons syndrome", "MONDO:0015347": "multicentric reticulohistiocytosis", "MONDO:0015348": "leukoencephalopathy with bilateral anterior temporal lobe cysts", "MONDO:0015349": "progressive cavitating leukoencephalopathy", "MONDO:0015350": "17q11.2 microduplication syndrome", "MONDO:0015351": "neuropathy with hearing impairment", "MONDO:0015352": "distal hereditary motor neuropathy type 2", "MONDO:0015354": "hereditary sensory and autonomic neuropathy with deafness and global delay", "MONDO:0015355": "distal hereditary motor neuropathy type 7", "MONDO:0015356": "hereditary neoplastic syndrome", "MONDO:0015357": "secondary hypoparathyroidism due to impaired parathormon secretion", "MONDO:0015358": "hereditary motor and sensory neuropathy", "MONDO:0015359": "autosomal dominant hereditary demyelinating motor and sensory neuropathy", "MONDO:0015360": "autosomal dominant hereditary axonal motor and sensory neuropathy", "MONDO:0015361": "autosomal recessive hereditary demyelinating motor and sensory neuropathy", "MONDO:0015362": "autosomal dominant distal hereditary motor neuropathy", "MONDO:0015363": "autosomal recessive distal hereditary motor neuropathy", "MONDO:0015364": "hereditary sensory and autonomic neuropathy", "MONDO:0015365": "autosomal dominant hereditary sensory and autonomic neuropathy", "MONDO:0015366": "autosomal recessive hereditary sensory and autonomic neuropathy", "MONDO:0015367": "Charlie M syndrome", "MONDO:0015368": "neuro-ophthalmological disease", "MONDO:0015369": "Joubert syndrome and related disorders", "MONDO:0015371": "linear atrophoderma of Moulin", "MONDO:0015372": "autosomal dominant macrothrombocytopenia", "MONDO:0015374": "primary central nervous system vasculitis", "MONDO:0015375": "orofaciodigital syndrome", "MONDO:0015376": "first branchial cleft anomaly", "MONDO:0015377": "third branchial cleft anomaly", "MONDO:0015378": "fourth branchial cleft anomaly", "MONDO:0015379": "cervical dermoid cyst", "MONDO:0015380": "facial dermoid cyst", "MONDO:0015381": "commissural lip fistula", "MONDO:0015382": "lower lip fistula", "MONDO:0015383": "cervicofacial fibrochondroma", "MONDO:0015384": "digestive duplication cyst of the tongue", "MONDO:0015385": "external auditory canal aplasia/hypoplasia", "MONDO:0015386": "epignathus (disease)", "MONDO:0015387": "nasolacrimal duct cyst", "MONDO:0015388": "polyrrhinia", "MONDO:0015389": "supernumerary nostril", "MONDO:0015390": "proboscis lateralis", "MONDO:0015391": "nasopharyngeal teratoma", "MONDO:0015392": "nasal glial heterotopia", "MONDO:0015393": "nasal ganglioglioma", "MONDO:0015394": "nasal encephalocele", "MONDO:0015395": "congenital subglottic stenosis", "MONDO:0015396": "congenital laryngeal cyst", "MONDO:0015397": "oculo-auriculo-vertebral spectrum", "MONDO:0015399": "glossopalatine ankylosis", "MONDO:0015400": "frontonasal arteriovenous malformation", "MONDO:0015401": "maxillary arteriovenous malformation", "MONDO:0015402": "mandibular arteriovenous malformation", "MONDO:0015403": "non-involuting congenital hemangioma", "MONDO:0015404": "rapidly involuting congenital hemangioma", "MONDO:0015405": "cerebrofacial arteriovenous metameric syndrome", "MONDO:0015406": "cerebrofacial arteriovenous metameric syndrome type 1", "MONDO:0015407": "cerebrofacial arteriovenous metameric syndrome type 3", "MONDO:0015408": "diffuse lymphatic malformation", "MONDO:0015409": "isolated congenital syngnathia", "MONDO:0015410": "nasal dorsum fistula/cyst", "MONDO:0015411": "facial cleft", "MONDO:0015412": "median facial cleft", "MONDO:0015413": "median cleft of the upper lip and maxilla", "MONDO:0015414": "paramedian nasal cleft", "MONDO:0015415": "oblique facial cleft", "MONDO:0015416": "Tessier number 5 facial cleft", "MONDO:0015417": "Tessier number 6 facial cleft", "MONDO:0015418": "lateral facial cleft", "MONDO:0015419": "midline cervical cleft", "MONDO:0015420": "cleft lip and alveolus", "MONDO:0015421": "orofaciodigital syndrome type 12", "MONDO:0015422": "orofaciodigital syndrome type 13", "MONDO:0015424": "lethal chondrodysplasia, Moerman type", "MONDO:0015425": "lethal recessive chondrodysplasia", "MONDO:0015426": "Desbuquois dysplasia", "MONDO:0015427": "paroxysmal dyskinesia", "MONDO:0015428": "choroidal atrophy-alopecia syndrome", "MONDO:0015430": "ring chromosome 1", "MONDO:0015431": "ring chromosome 10", "MONDO:0015432": "ring chromosome 12", "MONDO:0015433": "ring chromosome 17", "MONDO:0015434": "ring chromosome 18", "MONDO:0015435": "ring chromosome 19", "MONDO:0015436": "ring chromosome 20", "MONDO:0015437": "ring chromosome 21", "MONDO:0015438": "ring chromosome 22", "MONDO:0015439": "ring chromosome 4", "MONDO:0015440": "ring chromosome 6", "MONDO:0015441": "ring chromosome 7", "MONDO:0015443": "chromosome 8-derived supernumerary ring/marker", "MONDO:0015445": "autosomal dominant coarctation of aorta", "MONDO:0015446": "atypical coarctation of aorta", "MONDO:0015447": "differentiated thyroid carcinoma", "MONDO:0015448": "mitochondrial complex III deficiency", "MONDO:0015449": "criss-cross heart", "MONDO:0015450": "triatrial heart", "MONDO:0015451": "univentricular heart", "MONDO:0015452": "Coffin-Siris syndrome", "MONDO:0015453": "Cogan syndrome", "MONDO:0015454": "multiple carboxylase deficiency", "MONDO:0015455": "gonococcal conjunctivitis", "MONDO:0015457": "corpus callosum agenesis-double urinary collecting system syndrome", "MONDO:0015458": "intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome", "MONDO:0015459": "nasopharyngeal carcinoma", "MONDO:0015461": "short rib-polydactyly syndrome", "MONDO:0015462": "thin ribs-tubular bones-dysmorphism syndrome", "MONDO:0015463": "craniodigital syndrome-intellectual disability syndrome", "MONDO:0015464": "craniofrontonasal dysplasia-Poland anomaly syndrome", "MONDO:0015465": "craniometaphyseal dysplasia", "MONDO:0015466": "cranio-osteoarthropathy", "MONDO:0015467": "craniosynostosis, Philadelphia type", "MONDO:0015468": "craniosynostosis-cataract syndrome", "MONDO:0015469": "craniosynostosis", "MONDO:0015471": "benign focal seizures of adolescence", "MONDO:0015473": "cryptorchidism-arachnodactyly-intellectual disability syndrome", "MONDO:0015474": "cryptosporidiosis", "MONDO:0015475": "rare head and neck malformation", "MONDO:0015476": "cysts and fistulae of the face and oral cavity", "MONDO:0015477": "pinnae fistula or cyst", "MONDO:0015478": "paramedian facial cleft", "MONDO:0015479": "submucosal cleft palate", "MONDO:0015480": "coloboma of superior eyelid", "MONDO:0015481": "coloboma of inferior eyelid", "MONDO:0015482": "otomandibular dysplasia", "MONDO:0015483": "mandibulofacial dysostosis", "MONDO:0015484": "cysticercosis", "MONDO:0015485": "primary hereditary glaucoma", "MONDO:0015486": "keratoconus (disease)", "MONDO:0015487": "fatal infantile encephalocardiomyopathy", "MONDO:0015488": "predominantly large-vessel vasculitis", "MONDO:0015489": "predominantly medium-vessel vasculitis", "MONDO:0015490": "predominantly small-vessel vasculitis", "MONDO:0015491": "immune complex mediated vasculitis", "MONDO:0015492": "Anti-neutrophil cytoplasmic antibody-associated vasculitis", "MONDO:0015493": "lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy", "MONDO:0015494": "isolated dystonia", "MONDO:0015495": "otomandibular dysplasia associated with monogenic syndromes", "MONDO:0015496": "macroglossia", "MONDO:0015497": "hypoglossia/aglossia", "MONDO:0015498": "oromandibular-limb anomalies syndrome", "MONDO:0015499": "paralytic facial malformation", "MONDO:0015500": "facial arteriovenous malformation", "MONDO:0015501": "syndrome or malformation associated with head and neck malformations", "MONDO:0015502": "pinnae and external auditory canal anomaly", "MONDO:0015503": "nose and cavum anomaly", "MONDO:0015504": "larynx anomaly", "MONDO:0015505": "tracheal anomaly", "MONDO:0015506": "rare syndrome with cardiac malformations", "MONDO:0015507": "obsolete rare genetic hepatic disease", "MONDO:0015508": "genetic parenchymatous liver disease", "MONDO:0015509": "genetic biliary tract disease", "MONDO:0015510": "obsolete rare genetic respiratory disease", "MONDO:0015511": "obsolete rare genetic urogenital disease", "MONDO:0015512": "genetic hypertension", "MONDO:0015513": "obsolete rare genetic endocrine disease", "MONDO:0015514": "genetic endocrine growth disease", "MONDO:0015515": "carnitine palmitoyltransferase II deficiency", "MONDO:0015516": "symbrachydactyly of hands and feet", "MONDO:0015517": "common variable immunodeficiency", "MONDO:0015518": "infantile bilateral striatal necrosis", "MONDO:0015519": "congenital or early infantile CACH syndrome", "MONDO:0015520": "late infantile CACH syndrome", "MONDO:0015521": "juvenile or adult CACH syndrome", "MONDO:0015523": "epithelioid hemangioendothelioma", "MONDO:0015524": "hyperplastic polyposis syndrome", "MONDO:0015525": "congenital pseudoarthrosis of the limbs", "MONDO:0015526": "cold-induced sweating syndrome", "MONDO:0015528": "congenital epulis", "MONDO:0015529": "paroxysmal Hemicrania", "MONDO:0015530": "trigeminal autonomic cephalalgia", "MONDO:0015531": "non-Langerhans cell histiocytosis", "MONDO:0015532": "generalized eruptive histiocytosis", "MONDO:0015533": "benign cephalic histiocytosis", "MONDO:0015534": "juvenile xanthogranuloma", "MONDO:0015535": "xanthoma disseminatum", "MONDO:0015536": "papular xanthoma", "MONDO:0015537": "necrobiotic xanthogranuloma", "MONDO:0015538": "indeterminate dendritic cell tumor", "MONDO:0015539": "progressive nodular histiocytosis", "MONDO:0015540": "hemophagocytic syndrome", "MONDO:0015541": "genetic hemophagocytic lymphohistiocytosis", "MONDO:0015542": "secondary hemophagocytic lymphohistiocytosis", "MONDO:0015544": "acquired hemophagocytic lymphohistiocytosis associated with malignant disease", "MONDO:0015545": "macrophage activation syndrome", "MONDO:0015546": "non-distal monosomy 10q", "MONDO:0015547": "genetic dementia", "MONDO:0015548": "Huntington disease-like syndrome", "MONDO:0015549": "obsolete rare genetic hematologic disease", "MONDO:0015550": "suprabasal epidermolysis bullosa simplex", "MONDO:0015551": "basal epidermolysis bullosa simplex", "MONDO:0015552": "acral dystrophic epidermolysis bullosa", "MONDO:0015553": "dystrophic epidermolysis bullosa, nails only", "MONDO:0015554": "typical urticaria pigmentosa", "MONDO:0015555": "plaque-form urticaria pigmentosa", "MONDO:0015556": "nodular urticaria pigmentosa", "MONDO:0015557": "Smouldering systemic mastocytosis", "MONDO:0015558": "isolated bone marrow mastocytosis", "MONDO:0015559": "lymphoadenopathic mastocytosis with eosinophilia", "MONDO:0015560": "classic mast cell leukemia", "MONDO:0015562": "distal monosomy 17q", "MONDO:0015564": "Castleman disease", "MONDO:0015565": "cap polyposis", "MONDO:0015566": "2q24 microdeletion syndrome", "MONDO:0015567": "cataract-glaucoma syndrome", "MONDO:0015568": "isolated congenital nasal pyriform aperture stenosis", "MONDO:0015569": "congenital nasal pyriform aperture stenosis with holoprosencephaly", "MONDO:0015570": "isolated congenital auditory ossicle malformation", "MONDO:0015571": "deletion 5q35", "MONDO:0015572": "cerebral malformation due to abnormal neuronal migration", "MONDO:0015573": "subacute cutaneous lupus erythematosus", "MONDO:0015574": "chronic cutaneous lupus erythematosus", "MONDO:0015575": "obsolete rare bacterial infectious disease", "MONDO:0015576": "obsolete rare viral disease", "MONDO:0015577": "obsolete rare parasitic disease", "MONDO:0015578": "obsolete rare mycosis", "MONDO:0015579": "Hb Bart's hydrops fetalis", "MONDO:0015580": "distal monosomy 7q36", "MONDO:0015581": "bile acid synthesis defect with cholestasis and malabsorption", "MONDO:0015582": "obsolete rare disorder related with pregnancy, childbirth and puerperium", "MONDO:0015583": "2p21 microdeletion syndrome", "MONDO:0015584": "febrile infection-related epilepsy syndrome", "MONDO:0015585": "cryptogenic late-onset epileptic spasms", "MONDO:0015586": "benign familial mesial temporal lobe epilepsy", "MONDO:0015587": "rolandic epilepsy-speech dyspraxia syndrome", "MONDO:0015588": "limbic encephalitis", "MONDO:0015589": "paraneoplastic limbic encephalitis", "MONDO:0015590": "classic paraneoplastic limbic encephalitis", "MONDO:0015591": "limbic encephalitis associated with antibodies to cell membrane antigens", "MONDO:0015592": "limbic encephalitis with LGI1 antibodies", "MONDO:0015593": "limbic encephalitis with nCMAgs antibodies", "MONDO:0015594": "non-paraneoplastic limbic encephalitis", "MONDO:0015595": "posttransplant acute limbic encephalitis", "MONDO:0015596": "non-herpetic acute limbic encephalitis", "MONDO:0015597": "pustulosis palmaris et plantaris", "MONDO:0015599": "atopic keratoconjunctivitis", "MONDO:0015600": "X-linked intellectual disability, Cilliers type", "MONDO:0015601": "X-linked intellectual disability, van Esch type", "MONDO:0015602": "developmental delay-deafness syndrome, Hildebrand type", "MONDO:0015603": "rare odontal or periodontal disorder", "MONDO:0015604": "middle ear anomaly", "MONDO:0015605": "distal monosomy 9p", "MONDO:0015606": "Xp22.3 microdeletion syndrome", "MONDO:0015607": "partial chromosome Y deletion", "MONDO:0015608": "acute myeloid leukemia and myelodysplastic syndromes related to radiation", "MONDO:0015609": "advanced sleep phase syndrome", "MONDO:0015610": "acquired aplastic anemia", "MONDO:0015611": "neutral lipid storage disease", "MONDO:0015612": "Dent disease", "MONDO:0015613": "dentin dysplasia", "MONDO:0015614": "dermatitis herpetiformis", "MONDO:0015615": "obsolete rare genetic gastroenterological disease", "MONDO:0015616": "obsolete rare genetic intestinal disease", "MONDO:0015617": "genetic gastro-esophageal disease", "MONDO:0015618": "obsolete genetic pancreatic disease", "MONDO:0015619": "non-syndromic urogenital tract malformation", "MONDO:0015620": "syndromic urogenital tract malformation", "MONDO:0015621": "obsolete rare abdominal surgical disease", "MONDO:0015622": "wound myiasis", "MONDO:0015623": "cavitary myiasis", "MONDO:0015624": "diazoxide-sensitive diffuse hyperinsulinism", "MONDO:0015625": "diazoxide-resistant diffuse hyperinsulinism", "MONDO:0015626": "Charcot-Marie-Tooth disease", "MONDO:0015627": "multiple epiphyseal dysplasia due to collagen 9 anomaly", "MONDO:0015628": "von Willebrand disease type 2A", "MONDO:0015629": "von Willebrand disease type 2B", "MONDO:0015630": "von Willebrand disease type 2M", "MONDO:0015631": "von Willebrand disease type 2N", "MONDO:0015632": "FASTKD2-related infantile mitochondrial encephalomyopathy", "MONDO:0015634": "isolated osteopoikilosis", "MONDO:0015635": "porokeratotic eccrine ostial and dermal duct nevus", "MONDO:0015636": "dirofilariasis", "MONDO:0015637": "benign non-familial infantile seizures", "MONDO:0015638": "benign partial epilepsy of infancy with complex partial seizures", "MONDO:0015639": "benign partial epilepsy with secondarily generalized seizures in infancy", "MONDO:0015640": "benign infantile seizures associated with mild gastroenteritis", "MONDO:0015641": "benign infantile focal epilepsy with midline spikes and wave during sleep", "MONDO:0015642": "benign partial infantile seizures", "MONDO:0015643": "photosensitive epilepsy", "MONDO:0015644": "audiogenic seizures", "MONDO:0015645": "eating seizures", "MONDO:0015646": "orgasm-induced seizures", "MONDO:0015647": "thinking seizures", "MONDO:0015648": "startle epilepsy", "MONDO:0015649": "micturation-induced seizures", "MONDO:0015650": "epilepsy syndrome", "MONDO:0015651": "neurocutaneous syndrome with epilepsy", "MONDO:0015652": "chromosomal anomaly with epilepsy as a major feature", "MONDO:0015653": "monogenic disease with epilepsy", "MONDO:0015654": "idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes", "MONDO:0015655": "cerebral malformation with epilepsy", "MONDO:0015656": "metabolic disease with epilepsy", "MONDO:0015657": "inflammatory and autoimmune disease with epilepsy", "MONDO:0015658": "cerebral diseases of vascular origin with epilepsy", "MONDO:0015659": "infectious disease with epilepsy", "MONDO:0015660": "sporadic fetal brain disruption sequence", "MONDO:0015661": "dextrocardia (disease)", "MONDO:0015662": "hemorrhagic disorder due to an acquired coagulation factor defect", "MONDO:0015663": "diencephalic syndrome", "MONDO:0015664": "idiopathic pulmonary artery dilatation", "MONDO:0015665": "scleromyxedema", "MONDO:0015666": "familial idiopathic dilatation of the right atrium", "MONDO:0015667": "unclassified acute myeloid leukemia", "MONDO:0015668": "hereditary dentin defect", "MONDO:0015669": "rare disease with dentinogenesis imperfecta", "MONDO:0015672": "diprosopus", "MONDO:0015673": "obsolete rare cardiac tumor", "MONDO:0015674": "late infantile neuronal ceroid lipofuscinosis", "MONDO:0015675": "distomatosis", "MONDO:0015677": "cardiac diverticulum (disease)", "MONDO:0015678": "dysplasia of head of femur, Meyer type", "MONDO:0015679": "autosomal thrombocytopenia with normal platelets", "MONDO:0015680": "obsolete rare pervasive developmental disorder", "MONDO:0015681": "childhood disintegrative disorder", "MONDO:0015682": "primary peritoneal tumor", "MONDO:0015683": "primary malignant peritoneal tumor", "MONDO:0015686": "primary peritoneal carcinoma (disease)", "MONDO:0015687": "chronic eosinophilic leukemia", "MONDO:0015688": "myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1", "MONDO:0015689": "myeloid neoplasm associated with PDGFRA rearrangement", "MONDO:0015690": "myeloid neoplasm associated with PDGFRB rearrangement", "MONDO:0015691": "hypereosinophilic syndrome", "MONDO:0015692": "refractory anemia with excess blasts in transformation", "MONDO:0015694": "malignant melanoma of the mucosa", "MONDO:0015695": "combined immunodeficiency due to CRAC channel dysfunction", "MONDO:0015696": "Good syndrome", "MONDO:0015697": "immunoglobulin heavy chain deficiency", "MONDO:0015698": "transient hypogammaglobulinemia of infancy", "MONDO:0015699": "immunodeficiency due to a classical component pathway complement deficiency", "MONDO:0015700": "immunodeficiency due to a late component of complement deficiency", "MONDO:0015701": "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency", "MONDO:0015702": "T-B+ severe combined immunodeficiency due to CD45 deficiency", "MONDO:0015703": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta", "MONDO:0015704": "familial scaphocephaly syndrome", "MONDO:0015705": "autosomal recessive centronuclear myopathy", "MONDO:0015706": "mosaic trisomy 1", "MONDO:0015707": "DNA repair defect other than combined T-cell and B-cell immunodeficiencies", "MONDO:0015708": "immuno-osseous dysplasia", "MONDO:0015709": "immunodeficiency syndrome with autoimmunity", "MONDO:0015710": "immune dysregulation disease with immunodeficiency", "MONDO:0015711": "specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells", "MONDO:0015712": "non-distal trisomy 10q", "MONDO:0015713": "idiopathic central precocious puberty", "MONDO:0015714": "secondary central precocious puberty", "MONDO:0015715": "severe hemophilia B", "MONDO:0015716": "moderately severe hemophilia B", "MONDO:0015717": "mild hemophilia B", "MONDO:0015718": "mosaic trisomy 12", "MONDO:0015719": "severe hemophilia A", "MONDO:0015720": "moderately severe hemophilia A", "MONDO:0015721": "mild hemophilia A", "MONDO:0015722": "congenital vitamin K-dependent coagulation factors deficiency", "MONDO:0015723": "trisomy 12p", "MONDO:0015724": "non-distal trisomy 13q", "MONDO:0015725": "mosaic trisomy 14", "MONDO:0015726": "distal trisomy 14q", "MONDO:0015727": "mosaic trisomy 15", "MONDO:0015728": "distal trisomy 15q", "MONDO:0015729": "mosaic trisomy 16", "MONDO:0015730": "mosaic trisomy 17", "MONDO:0015731": "high anorectal malformation", "MONDO:0015732": "intermediate anorectal malformation", "MONDO:0015733": "low anorectal malformation", "MONDO:0015734": "rectal duplication", "MONDO:0015735": "severe congenital nemaline myopathy", "MONDO:0015736": "intermediate nemaline myopathy", "MONDO:0015737": "typical nemaline myopathy", "MONDO:0015738": "childhood-onset nemaline myopathy", "MONDO:0015739": "adult-onset nemaline myopathy", "MONDO:0015740": "trisomy 18p", "MONDO:0015741": "distal trisomy 18q", "MONDO:0015742": "periventricular leukomalacia", "MONDO:0015743": "idiopathic bilateral vestibulopathy", "MONDO:0015744": "distal trisomy 19q", "MONDO:0015745": "microcephaly-polymicrogyria-corpus callosum agenesis syndrome", "MONDO:0015746": "male infertility due to globozoospermia", "MONDO:0015748": "hereditary mucosal leukokeratosis", "MONDO:0015749": "6q16 deletion syndrome", "MONDO:0015751": "craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome", "MONDO:0015752": "intellectual disability-cataracts-kyphosis syndrome", "MONDO:0015753": "cap myopathy", "MONDO:0015755": "myopathy with hexagonally cross-linked tubular arrays", "MONDO:0015756": "myeloid hemopathy", "MONDO:0015757": "lymphoid hemopathy", "MONDO:0015758": "primary cutaneous T-cell lymphoma", "MONDO:0015759": "B-cell non-Hodgkin lymphoma", "MONDO:0015760": "T-cell non-Hodgkin lymphoma", "MONDO:0015761": "trisomy 10p", "MONDO:0015762": "progressive familial intrahepatic cholestasis", "MONDO:0015763": "mosaic trisomy 2", "MONDO:0015764": "mosaic trisomy 20", "MONDO:0015765": "congenital myopathy with cores", "MONDO:0015766": "cholera", "MONDO:0015767": "trisomy 4p", "MONDO:0015768": "trisomy 5p", "MONDO:0015769": "distal trisomy 6p", "MONDO:0015770": "congenital hypogonadotropic hypogonadism", "MONDO:0015771": "mosaic trisomy 7", "MONDO:0015772": "trisomy 8q", "MONDO:0015773": "fibular dimelia-diplopodia syndrome", "MONDO:0015774": "thoraco-abdominal enteric duplication", "MONDO:0015775": "non-rhizomelic chondrodysplasia punctata", "MONDO:0015776": "rhizomelic chondrodysplasia punctata", "MONDO:0015777": "rare adult hypothyroidism", "MONDO:0015778": "syndromic hypothyroidism", "MONDO:0015779": "45,X/46,XY mixed gonadal dysgenesis", "MONDO:0015780": "dyskeratosis congenita", "MONDO:0015781": "facial dysmorphism-shawl scrotum-joint laxity syndrome", "MONDO:0015782": "dysmorphism-cleft palate-loose skin syndrome", "MONDO:0015783": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1", "MONDO:0015784": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2", "MONDO:0015785": "Prader-Willi syndrome due to translocation", "MONDO:0015786": "Prader-Willi syndrome due to imprinting mutation", "MONDO:0015787": "symptomatic form of hemophilia A in female carriers", "MONDO:0015788": "symptomatic form of hemophilia B in female carriers", "MONDO:0015789": "non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations", "MONDO:0015790": "central diabetes insipidus", "MONDO:0015791": "peripheral precocious puberty", "MONDO:0015792": "transient congenital hypothyroidism", "MONDO:0015793": "moderate multiminicore disease with hand involvement", "MONDO:0015794": "antenatal multiminicore disease with arthrogryposis multiplex congenita", "MONDO:0015795": "undifferentiated embryonal sarcoma of the liver", "MONDO:0015796": "acute lung injury", "MONDO:0015797": "UV-sensitive syndrome", "MONDO:0015798": "inflammatory myofibroblastic tumor", "MONDO:0015799": "Smith-McCort dysplasia", "MONDO:0015800": "osteosclerosis-developmental delay-craniosynostosis syndrome", "MONDO:0015801": "hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation", "MONDO:0015802": "autosomal dominant non-syndromic intellectual disability", "MONDO:0015803": "wound botulism", "MONDO:0015804": "infant botulism", "MONDO:0015805": "intestinal botulism", "MONDO:0015806": "adult intestinal botulism", "MONDO:0015807": "myopic macular degeneration", "MONDO:0015808": "folliculotropic mycosis fungoides", "MONDO:0015809": "localized pagetoid reticulosis", "MONDO:0015810": "primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma", "MONDO:0015811": "primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma", "MONDO:0015812": "primary cutaneous gamma/delta-positive T-cell lymphoma", "MONDO:0015813": "primary cutaneous marginal zone B-cell lymphoma", "MONDO:0015814": "primary cutaneous follicle center lymphoma", "MONDO:0015816": "indolent primary cutaneous T-cell lymphoma", "MONDO:0015817": "aggressive primary cutaneous T-cell lymphoma", "MONDO:0015818": "aggressive primary cutaneous B-cell lymphoma", "MONDO:0015819": "indolent primary cutaneous B-cell lymphoma", "MONDO:0015820": "primary cutaneous B-cell lymphoma", "MONDO:0015821": "mycosis fungoides and variants", "MONDO:0015822": "acquired neutropenia", "MONDO:0015823": "primary immunodeficiency due to a defect in adaptive immunity", "MONDO:0015824": "oculomaxillofacial dysostosis", "MONDO:0015825": "obesity due to congenital leptin resistance", "MONDO:0015826": "autosomal dominant spondylocostal dysostosis", "MONDO:0015827": "distal renal tubular acidosis (disease)", "MONDO:0015828": "uterovaginal malformation", "MONDO:0015829": "non-syndromic uterovaginal malformation", "MONDO:0015830": "partial bilateral aplasia of the mullerian ducts", "MONDO:0015831": "unilateral aplasia of the mullerian ducts", "MONDO:0015832": "true unicornuate uterus", "MONDO:0015833": "pseudounicornuate uterus", "MONDO:0015834": "didelphys uterus", "MONDO:0015835": "Bicervical bicornuate uterus and blind hemivagina", "MONDO:0015836": "Bicervical bicornuate uterus with patent cervix and vagina", "MONDO:0015837": "Unicervical bicornuate uterus", "MONDO:0015838": "cordiform uterus", "MONDO:0015839": "septate uterus", "MONDO:0015840": "complete septate uterus", "MONDO:0015841": "partial septate uterus", "MONDO:0015842": "bicornuate uterus", "MONDO:0015843": "uterine hypoplasia", "MONDO:0015844": "agenesis and aplasia of uterine body", "MONDO:0015845": "uterine cervical aplasia and agenesis", "MONDO:0015846": "syndromic uterovaginal malformation", "MONDO:0015847": "rare vaginal malformation", "MONDO:0015848": "septate vagina", "MONDO:0015849": "longitudinal vaginal septum", "MONDO:0015850": "transverse vaginal septum", "MONDO:0015851": "rare breast malformation", "MONDO:0015852": "excess breast volume or number", "MONDO:0015853": "deficient breast volume or number", "MONDO:0015854": "supernumerary breasts", "MONDO:0015855": "isolated congenital breast hypoplasia/aplasia", "MONDO:0015856": "syndromic breast hypoplasia/aplasia", "MONDO:0015857": "rare non-malformative gynecologic or obstetric disease", "MONDO:0015858": "rare non-malformative breast disease", "MONDO:0015859": "rare non-malformative uterovaginal or vulvovaginal disease", "MONDO:0015860": "anomaly of puberty or/and menstrual cycle", "MONDO:0015861": "rare uterine adnexal tumor", "MONDO:0015863": "polyembryoma", "MONDO:0015864": "mixed germ cell tumor", "MONDO:0015867": "vaginal carcinoma", "MONDO:0015868": "obsolete rare breast tumor", "MONDO:0015869": "obsolete rare benign breast tumor", "MONDO:0015870": "obsolete rare malignant breast tumor", "MONDO:0015871": "benign breast phyllodes tumor", "MONDO:0015873": "Paget disease of the nipple", "MONDO:0015874": "benign ductal tumor of breast", "MONDO:0015875": "rare non-malformative uterine adnexal disease", "MONDO:0015876": "rare vulvovaginal tumor", "MONDO:0015877": "malformative syndrome with dentinogenesis imperfecta", "MONDO:0015878": "rare disease with autism", "MONDO:0015879": "non-syndromic diaphragmatic or thoracic malformation", "MONDO:0015880": "syndromic diaphragmatic or thoracic malformation", "MONDO:0015881": "rare gastroesophageal tumor", "MONDO:0015882": "obsolete rare tumor of pancreas", "MONDO:0015883": "hidrotic ectodermal dysplasia, Halal type", "MONDO:0015884": "autosomal dominant hypohidrotic ectodermal dysplasia", "MONDO:0015885": "rare insulin-resistance syndrome", "MONDO:0015886": "obsolete rare diabetes mellitus type 1", "MONDO:0015887": "rare diabetes mellitus type 2", "MONDO:0015888": "other rare diabetes mellitus", "MONDO:0015889": "rare hypothalamic or pituitary disease", "MONDO:0015890": "rare disorder with congenital hypogonadotropic hypogonadism", "MONDO:0015891": "hypogonadotropic hypogonadism associated with other endocrinopathies", "MONDO:0015892": "growth hormone insensitivity syndrome", "MONDO:0015893": "obsolete rare hypothyroidism", "MONDO:0015894": "obsolete rare hyperthyroidism", "MONDO:0015895": "syndrome with hypoparathyroidism", "MONDO:0015896": "obsolete rare hypoparathyroidism", "MONDO:0015897": "obsolete rare hyperparathyroidism", "MONDO:0015898": "adrenogenital syndrome", "MONDO:0015899": "obsolete rare primary hyperaldosteronism", "MONDO:0015900": "hypoaldosteronism disease", "MONDO:0015901": "obsolete rare inherited hyperlipidemia", "MONDO:0015902": "major hypertriglyceridemia", "MONDO:0015903": "hyperalphalipoproteinemia", "MONDO:0015904": "obsolete rare hypolipidemia", "MONDO:0015905": "syndromic dyslipidemia", "MONDO:0015906": "obsolete rare disorder with hypergonadotropic hypogonadism", "MONDO:0015907": "epimetaphyseal skeletal dysplasia", "MONDO:0015908": "chromomycosis", "MONDO:0015909": "aplastic anemia", "MONDO:0015910": "obsolete rare constitutional hemolytic anemia", "MONDO:0015911": "obsolete rare acquired hemolytic anemia", "MONDO:0015912": "MYH-9 related disease", "MONDO:0015913": "rare thrombotic disease of hematologic origin", "MONDO:0015914": "primary orthostatic hypotension", "MONDO:0015915": "cerebellar malformation", "MONDO:0015916": "rare neuroinflammatory or neuroimmunological disease", "MONDO:0015918": "obsolete rare neurodegenerative disease", "MONDO:0015919": "syndromic neurometabolic disease with non-X-linked intellectual disability", "MONDO:0015920": "syndromic neurometabolic disease with X-linked intellectual disability", "MONDO:0015921": "ARX-related epileptic encephalopathy", "MONDO:0015922": "channelopathy with epilepsy", "MONDO:0015923": "acquired peripheral neuropathy", "MONDO:0015924": "pulmonary arterial hypertension", "MONDO:0015925": "interstitial lung disease", "MONDO:0015926": "pneumoconiosis", "MONDO:0015927": "idiopathic eosinophilic pneumonia", "MONDO:0015928": "secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease", "MONDO:0015929": "thoracic malformation", "MONDO:0015930": "respiratory malformation", "MONDO:0015931": "obsolete rare urogenital tumor", "MONDO:0015932": "non-syndromic urogenital tract malformation of female", "MONDO:0015933": "non-syndromic urogenital tract malformation of male", "MONDO:0015934": "non-syndromic urogenital tract malformation of male and female", "MONDO:0015935": "extragonadal germinoma", "MONDO:0015936": "obsolete rare tumor of endocrine glands", "MONDO:0015937": "rare inflammatory eye disease", "MONDO:0015939": "systemic autoimmune disease", "MONDO:0015940": "obsolete rare rheumatologic disease", "MONDO:0015941": "epiphyseal dysplasia-hearing loss-dysmorphism syndrome", "MONDO:0015942": "frontometaphyseal dysplasia", "MONDO:0015943": "eosinophilic granulomatosis with polyangiitis", "MONDO:0015944": "axial mesodermal dysplasia spectrum", "MONDO:0015945": "polymalformative genetic syndrome with increased risk of developing cancer", "MONDO:0015946": "obsolete rare genetic epidermal disorder", "MONDO:0015947": "inherited ichthyosis", "MONDO:0015948": "obsolete rare genetic skin vascular disorder", "MONDO:0015949": "obsolete rare genetic subcutaneous tissue disorder", "MONDO:0015950": "inherited skin tumor", "MONDO:0015951": "genetic photodermatosis", "MONDO:0015953": "genetic central nervous system and retinal vascular disease", "MONDO:0015954": "obsolete rare genetic headache disorder", "MONDO:0015955": "obsolete rare genetic epilepsy", "MONDO:0015957": "obsolete rare genetic movement disorder", "MONDO:0015958": "obsolete rare genetic bone disease", "MONDO:0015959": "obsolete inherited syndrome with bone tumors as a major feature", "MONDO:0015960": "obsolete rare genetic developmental defect during embryogenesis", "MONDO:0015961": "genetic head and neck malformation", "MONDO:0015962": "inherited renal tubular disease", "MONDO:0015963": "inherited renal tumor", "MONDO:0015964": "rare genetic palpebral, lacrimal system and conjunctival disease", "MONDO:0015965": "rare genetic refraction anomaly", "MONDO:0015966": "hereditary eye tumor", "MONDO:0015967": "monogenic diabetes", "MONDO:0015968": "rare genetic hypothalamic or pituitary disease", "MONDO:0015969": "obsolete rare genetic thyroid disease", "MONDO:0015970": "rare genetic parathyroid disease and phosphocalcic metabolism disorder", "MONDO:0015971": "obsolete rare genetic adrenal disease", "MONDO:0015972": "obsolete rare constitutional anemia", "MONDO:0015974": "severe combined immunodeficiency (disease)", "MONDO:0015975": "hyper-IgM syndrome with susceptibility to opportunistic infections", "MONDO:0015976": "hyper-IgM syndrome without susceptibility to opportunistic infections", "MONDO:0015977": "agammaglobulinemia", "MONDO:0015978": "functional neutrophil defect", "MONDO:0015979": "obsolete hereditary predisposition to infections", "MONDO:0015980": "obsolete rare genetic gynecological and obstetrical diseases", "MONDO:0015981": "inherited gynecological tumor", "MONDO:0015982": "obsolete rare genetic intellectual disability", "MONDO:0015983": "obsolete rare genetic syndromic intellectual disability", "MONDO:0015984": "obsolete rare genetic immune disease", "MONDO:0015985": "bone dysplasia, Azouz type", "MONDO:0015986": "bilateral renal agenesis", "MONDO:0015987": "scimitar syndrome", "MONDO:0015988": "multicystic dysplastic kidney", "MONDO:0015990": "focal, segmental or multifocal dystonia", "MONDO:0015991": "citrullinemia", "MONDO:0015993": "cone-rod dystrophy", "MONDO:0015994": "muscular dystrophy-white matter spongiosis syndrome", "MONDO:0015995": "melorheostosis with osteopoikilosis", "MONDO:0015997": "ectopia lentis-chorioretinal dystrophy-myopia syndrome", "MONDO:0015998": "isolated ectopia lentis", "MONDO:0015999": "primary pigmented nodular adrenocortical disease", "MONDO:0016000": "familial isolated hypoparathyroidism due to impaired PTH secretion", "MONDO:0016001": "2-hydroxyglutaric aciduria", "MONDO:0016002": "Ehlers-Danlos syndrome, kyphoscoliotic type", "MONDO:0016003": "ehrlichiosis", "MONDO:0016004": "aminopterin/methotrexate embryofetopathy", "MONDO:0016005": "indomethacin embryofetopathy", "MONDO:0016006": "Cockayne syndrome", "MONDO:0016007": "cocaine embryofetopathy", "MONDO:0016008": "fetal hydantoin syndrome", "MONDO:0016009": "fetal trimethadione syndrome", "MONDO:0016010": "vitamin K-antagonist embryofetopathy", "MONDO:0016011": "fetal alcohol syndrome", "MONDO:0016012": "diethylstilbestrol syndrome", "MONDO:0016013": "fetal methylmercury syndrome", "MONDO:0016014": "fetal minoxidil syndrome", "MONDO:0016015": "phenobarbital embryopathy", "MONDO:0016016": "toluene embryopathy", "MONDO:0016017": "methimazole embryofetopathy", "MONDO:0016018": "diabetic embryopathy", "MONDO:0016019": "Rasmussen subacute encephalitis", "MONDO:0016020": "frontal encephalocele", "MONDO:0016024": "shoulder and thorax deformity-congenital heart disease syndrome", "MONDO:0016026": "infant epilepsy with migrant focal crisis", "MONDO:0016027": "benign neonatal seizures", "MONDO:0016028": "erythromelalgia", "MONDO:0016029": "esthesioneuroblastoma", "MONDO:0016030": "Evans syndrome", "MONDO:0016031": "facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome", "MONDO:0016032": "femoral agenesis/hypoplasia", "MONDO:0016033": "Cornelia de Lange syndrome", "MONDO:0016034": "cleft lip with or without cleft palate", "MONDO:0016035": "Nelson syndrome", "MONDO:0016037": "superficial Fibromatosis", "MONDO:0016038": "calcified aponeurotic fibroma", "MONDO:0016039": "infantile digital fibromatosis", "MONDO:0016040": "harlequin syndrome", "MONDO:0016041": "congenital microgastria", "MONDO:0016042": "late-onset isolated ACTH deficiency", "MONDO:0016043": "isolated cleft lip", "MONDO:0016044": "cleft lip/palate", "MONDO:0016045": "tetragametic chimerism", "MONDO:0016046": "familial clubfoot with or without associated lower limb anomalies", "MONDO:0016047": "endophthalmitis", "MONDO:0016048": "isolated autosomal dominant hypomagnesemia, Glaudemans type", "MONDO:0016049": "congenital myopathy, Paradas type", "MONDO:0016051": "cleft lip-retinopathy syndrome", "MONDO:0016052": "atypical autism", "MONDO:0016053": "isolated cerebellar vermis hypoplasia", "MONDO:0016054": "cerebral malformation", "MONDO:0016055": "syndrome with corpus callosum agenesis /dysgenesis as a major feature", "MONDO:0016056": "isolated congenital microcephaly", "MONDO:0016057": "isolated encephalocele", "MONDO:0016058": "paroxysmal dystonia", "MONDO:0016059": "cleft lip/palate-deafness-sacral lipoma syndrome", "MONDO:0016060": "laryngotracheoesophageal cleft", "MONDO:0016061": "immunodeficiency with factor H anomaly", "MONDO:0016062": "median cleft lip/mandibule", "MONDO:0016063": "Cowden disease", "MONDO:0016064": "cleft palate", "MONDO:0016065": "cleft palate-short stature-vertebral anomalies syndrome", "MONDO:0016066": "sternal cleft", "MONDO:0016067": "Crandall syndrome", "MONDO:0016068": "fibrochondrogenesis", "MONDO:0016070": "hereditary gingival fibromatosis", "MONDO:0016071": "juvenile hyaline fibromatosis", "MONDO:0016072": "anomaly of puberty or/and menstrual cycle of genetic origin", "MONDO:0016073": "syndromic microphthalmia", "MONDO:0016075": "filariasis", "MONDO:0016077": "congenital aortopulmonary window", "MONDO:0016078": "congenital systemic arteriovenous fistula", "MONDO:0016079": "sporadic Creutzfeldt-Jakob disease", "MONDO:0016080": "congenital bronchobiliary fistula", "MONDO:0016081": "coronary arterial fistulas", "MONDO:0016082": "tracheo-esophageal fistula-hypospadias syndrome", "MONDO:0016083": "FLOTCH syndrome", "MONDO:0016085": "Cole-Carpenter syndrome", "MONDO:0016086": "osteochondritis of tarsal/metatarsal bone", "MONDO:0016087": "progressive non-infectious anterior vertebral fusion", "MONDO:0016088": "hypoxanthine-guanine phosphoribosyltransferase deficiency", "MONDO:0016089": "infantile Krabbe disease", "MONDO:0016090": "late-infantile/juvenile Krabbe disease", "MONDO:0016091": "adult Krabbe disease", "MONDO:0016092": "serous or mucinous cystadenoma of childhood", "MONDO:0016093": "borderline epithelial tumor of ovary", "MONDO:0016094": "vaginal germ cell malignant tumor", "MONDO:0016095": "vaginal rhabdomyosarcoma", "MONDO:0016096": "malignant non-dysgerminomatous germ cell tumor of ovary", "MONDO:0016097": "symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers", "MONDO:0016098": "immune-mediated necrotizing myopathy", "MONDO:0016099": "overlap myositis", "MONDO:0016100": "rippling muscle disease with myasthenia gravis", "MONDO:0016101": "neurolymphomatosis", "MONDO:0016102": "subacute inflammatory demyelinating polyneuropathy", "MONDO:0016103": "isolated asymptomatic elevation of creatine phosphokinase", "MONDO:0016104": "infectious disease with peripheral neuropathy", "MONDO:0016105": "acquired skeletal muscle disease", "MONDO:0016106": "progressive muscular dystrophy", "MONDO:0016107": "myotonic dystrophy", "MONDO:0016108": "autosomal dominant distal myopathy", "MONDO:0016109": "autosomal recessive distal myopathy", "MONDO:0016110": "non-dystrophic myopathy", "MONDO:0016111": "non-dystrophic myopathy with collagen 6 anomaly", "MONDO:0016112": "inclusion myopathy", "MONDO:0016113": "bulbospinal muscular atrophy", "MONDO:0016114": "bulbospinal muscular atrophy of childhood", "MONDO:0016115": "bulbospinal muscular atrophy of adulthood", "MONDO:0016116": "generalized bulbospinal muscular atrophy", "MONDO:0016117": "muscular lipidosis", "MONDO:0016118": "muscular glycogenosis", "MONDO:0016120": "myotonic syndrome", "MONDO:0016121": "congenital myotonia", "MONDO:0016122": "periodic paralysis (disease)", "MONDO:0016123": "muscular tumor", "MONDO:0016124": "drug and/or toxic myopathy", "MONDO:0016125": "infectious, fungal or parasitic myopathy", "MONDO:0016126": "viral myositis", "MONDO:0016127": "bacterial myositis", "MONDO:0016128": "parasitic myositis", "MONDO:0016129": "eosinophilic gastroenteritis", "MONDO:0016130": "fungal myositis", "MONDO:0016131": "spinal muscular atrophy associated with central nervous system anomaly", "MONDO:0016132": "rare hereditary disease with peripheral neuropathy", "MONDO:0016133": "rare hereditary metabolic disease with peripheral neuropathy", "MONDO:0016134": "rare hereditary systemic disease with peripheral neuropathy", "MONDO:0016135": "rare hereditary neurologic disease with peripheral neuropathy", "MONDO:0016136": "cerebellar ataxia with peripheral neuropathy", "MONDO:0016137": "acute and subacute inflammatory demyelinating polyneuropathy", "MONDO:0016138": "malignant lymphoma with peripheral neuropathy", "MONDO:0016139": "qualitative or quantitative protein defects in neuromuscular diseases", "MONDO:0016140": "sarcoglycanopathy", "MONDO:0016141": "qualitative or quantitative defects of alpha-sarcoglycan", "MONDO:0016142": "qualitative or quantitative defects of beta-sarcoglycan", "MONDO:0016143": "qualitative or quantitative defects of gamma-sarcoglycan", "MONDO:0016144": "qualitative or quantitative defects of delta-sarcoglycan", "MONDO:0016145": "qualitative or quantitative defects of dysferlin", "MONDO:0016146": "caveolinopathy", "MONDO:0016147": "qualitative or quantitative defects of dystrophin", "MONDO:0016149": "qualitative or quantitative defects of merosin", "MONDO:0016150": "qualitative or quantitative defects of integrin alpha-7", "MONDO:0016151": "qualitative or quantitative defects of perlecan", "MONDO:0016152": "qualitative or quantitative defects of calpain", "MONDO:0016153": "qualitative or quantitative defects of TRIM32", "MONDO:0016154": "qualitative or quantitative defects of myotubularin", "MONDO:0016155": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", "MONDO:0016156": "qualitative or quantitative defects of FKRP", "MONDO:0016157": "qualitative or quantitative defects of fukutin", "MONDO:0016158": "narcolepsy-cataplexy syndrome", "MONDO:0016159": "Gemignani syndrome", "MONDO:0016160": "X-linked intellectual disability-epilepsy syndrome", "MONDO:0016161": "cerebral gigantism-jaw cysts syndrome", "MONDO:0016162": "bilateral frontal polymicrogyria", "MONDO:0016163": "autosomal dominant cerebellar ataxia type II", "MONDO:0016164": "herpetiform pemphigus", "MONDO:0016165": "genetic hypoparathyroidism", "MONDO:0016166": "genetic hyperparathyroidism", "MONDO:0016167": "optic pathway glioma", "MONDO:0016168": "cryopyrin-associated periodic syndrome", "MONDO:0016169": "chronic acquired demyelinating polyneuropathy", "MONDO:0016170": "chronic polyradiculoneuropathy", "MONDO:0016171": "polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies", "MONDO:0016172": "acquired sensory ganglionopathy", "MONDO:0016173": "non-paraneoplastic sensory ganglionopathy", "MONDO:0016174": "paraneoplastic sensory ganglionopathy", "MONDO:0016175": "cutis laxa", "MONDO:0016176": "axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy", "MONDO:0016177": "systemic inflammatory disease associated with an acquired peripheral neuropathy", "MONDO:0016178": "peripheral neuropathy associated with monoclonal gammopathy", "MONDO:0016179": "acquired amyloid peripheral neuropathy", "MONDO:0016180": "hematological disease associated with an acquired peripheral neuropathy", "MONDO:0016181": "solid tumor associated with an acquired peripheral neuropathy", "MONDO:0016182": "qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase", "MONDO:0016183": "qualitative or quantitative defects of protein glycosyltransferase-like", "MONDO:0016184": "qualitative or quantitative defects of protein O-mannosyltransferase 1", "MONDO:0016185": "qualitative or quantitative defects of protein O-mannosyltransferase 2", "MONDO:0016186": "qualitative or quantitative defects of myofibrillar proteins", "MONDO:0016187": "qualitative or quantitative defects of desmin", "MONDO:0016188": "qualitative or quantitative defects of alphaB-cristallin", "MONDO:0016189": "qualitative or quantitative defects of filamin C", "MONDO:0016190": "qualitative or quantitative defects of protein ZASP", "MONDO:0016191": "qualitative or quantitative defects of titin", "MONDO:0016192": "qualitative or quantitative defects of telethonin", "MONDO:0016193": "qualitative or quantitative defects of alpha-actin", "MONDO:0016194": "qualitative or quantitative defects of nebulin", "MONDO:0016195": "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", "MONDO:0016196": "qualitative or quantitative defects of emerin", "MONDO:0016197": "qualitative or quantitative defects of selenoprotein N1", "MONDO:0016198": "qualitative or quantitative defects of plectin", "MONDO:0016199": "qualitative or quantitative defects of protein SERCA1", "MONDO:0016200": "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -", "MONDO:0016201": "qualitative or quantitative defects of myotilin", "MONDO:0016202": "autosomal dominant rhegmatogenous retinal detachment", "MONDO:0016203": "hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency", "MONDO:0016204": "idiopathic copper-associated cirrhosis", "MONDO:0016205": "IRVAN syndrome", "MONDO:0016206": "idiopathic uveal effusion syndrome", "MONDO:0016207": "phacoanaphylactic uveitis", "MONDO:0016208": "solitary rectal ulcer syndrome", "MONDO:0016209": "benign familial nocturnal alternating hemiplegia of childhood", "MONDO:0016210": "alternating hemiplegia", "MONDO:0016211": "non-papillary transitional cell carcinoma of the bladder", "MONDO:0016213": "leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome", "MONDO:0016214": "pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome", "MONDO:0016215": "spastic quadriplegia", "MONDO:0016216": "adult hepatocellular carcinoma", "MONDO:0016217": "mal de Debarquement", "MONDO:0016218": "Guillain-Barre syndrome", "MONDO:0016219": "dysmorphism-pectus carinatum-joint laxity syndrome", "MONDO:0016220": "congenital temporomandibular joint ankylosis", "MONDO:0016221": "temporomandibular joint anomaly", "MONDO:0016222": "spindle cell hemangioma", "MONDO:0016223": "infantile hemangioma of rare localization", "MONDO:0016224": "autosomal dominant proximal spinal muscular atrophy", "MONDO:0016225": "specific learning disability", "MONDO:0016226": "specific language disorder", "MONDO:0016227": "hereditary episodic ataxia", "MONDO:0016228": "obsolete rare vascular tumor", "MONDO:0016229": "genetic vascular anomaly", "MONDO:0016230": "simple vascular malformation", "MONDO:0016231": "capillary malformation", "MONDO:0016232": "rare venous malformation", "MONDO:0016233": "rare lymphatic system malformation", "MONDO:0016234": "obsolete rare arteriovenous malformation", "MONDO:0016235": "complex vascular malformation with associated anomalies", "MONDO:0016236": "kaposiform hemangioendothelioma", "MONDO:0016237": "diffuse neonatal hemangiomatosis", "MONDO:0016238": "solitary fibrous tumor", "MONDO:0016239": "cystinosis", "MONDO:0016240": "hemimelia", "MONDO:0016241": "alternating hemiplegia of childhood", "MONDO:0016242": "hemoglobin C disease", "MONDO:0016243": "hemoglobin E disease", "MONDO:0016244": "atypical hemolytic-uremic syndrome", "MONDO:0016248": "familial ovarian cancer", "MONDO:0016249": "hereditary site-specific ovarian cancer syndrome", "MONDO:0016250": "obsolete rare adenocarcinoma of the breast", "MONDO:0016252": "obsolete rare uterine cancer", "MONDO:0016253": "obsolete rare cancer of corpus uteri", "MONDO:0016254": "rare variants of adenocarcinoma of the corpus uteri", "MONDO:0016255": "uterine corpus mixed epithelial and mesenchymal neoplasm", "MONDO:0016256": "Hennekam syndrome", "MONDO:0016258": "uterine corpus carcinofibroma", "MONDO:0016259": "carcinosarcoma of the corpus uteri", "MONDO:0016260": "uterine corpus rhabdomyosarcoma", "MONDO:0016262": "leiomyosarcoma of the corpus uteri", "MONDO:0016263": "primitive neuroectodermal tumor of the corpus uteri", "MONDO:0016264": "autoimmune hepatitis", "MONDO:0016266": "squamous cell carcinoma of the corpus uteri", "MONDO:0016267": "undifferentiated carcinoma of the corpus uteri", "MONDO:0016268": "papillary carcinoma of the corpus uteri", "MONDO:0016269": "high-grade neuroendocrine carcinoma of the corpus uteri", "MONDO:0016270": "low-grade neuroendocrine tumor of the corpus uteri", "MONDO:0016271": "adenoid cystic carcinoma of the corpus uteri", "MONDO:0016272": "transitional cell carcinoma of the corpus uteri", "MONDO:0016273": "malignant germ cell tumor of corpus uteri", "MONDO:0016274": "obsolete rare cancer of cervix uteri", "MONDO:0016276": "high-grade neuroendocrine carcinoma of the cervix uteri", "MONDO:0016277": "malignant mixed epithelial and mesenchymal tumor of cervix uteri", "MONDO:0016280": "sarcoma of cervix uteri", "MONDO:0016281": "46,XX ovotesticular disorder of sex development", "MONDO:0016282": "rhabdomyosarcoma of the cervix uteri", "MONDO:0016283": "leiomyosarcoma of the cervix uteri", "MONDO:0016284": "primitive neuroectodermal tumor of the cervix uteri", "MONDO:0016285": "papillary carcinoma of the cervix uteri", "MONDO:0016289": "malignant germ cell tumor of cervix uteri", "MONDO:0016290": "Hern", "MONDO:0016291": "craniosynostosis, Herrmann-Opitz type", "MONDO:0016292": "nodular neuronal heterotopia", "MONDO:0016293": "congenital stationary night blindness", "MONDO:0016294": "Hirschsprung disease-type D brachydactyly syndrome", "MONDO:0016295": "neuronal ceroid lipofuscinosis", "MONDO:0016296": "holoprosencephaly", "MONDO:0016297": "prelingual non-syndromic genetic deafness", "MONDO:0016298": "postlingual non-syndromic genetic deafness", "MONDO:0016299": "holoprosencephaly-caudal dysgenesis syndrome", "MONDO:0016301": "congenitally corrected transposition of the great arteries", "MONDO:0016302": "isolated congenitally uncorrected transposition of the great arteries", "MONDO:0016303": "congenitally uncorrected transposition of the great arteries with cardiac malformation", "MONDO:0016304": "classic pantothenate kinase-associated neurodegeneration", "MONDO:0016305": "atypical pantothenate kinase-associated neurodegeneration", "MONDO:0016306": "Niemann-Pick disease type C, severe perinatal form", "MONDO:0016307": "Niemann-Pick disease type C, severe early infantile neurologic onset", "MONDO:0016308": "Niemann-Pick disease type C, late infantile neurologic onset", "MONDO:0016309": "Niemann-Pick disease type C, juvenile neurologic onset", "MONDO:0016310": "Niemann-Pick disease type C, adult neurologic onset", "MONDO:0016311": "Bockenheimer syndrome", "MONDO:0016312": "5-fluorouracil poisoning", "MONDO:0016314": "obsolete rare carcinoma of pancreas", "MONDO:0016315": "mucopolysaccharidosis type 2, severe form", "MONDO:0016316": "mucopolysaccharidosis type 2, attenuated form", "MONDO:0016318": "progressive multifocal leukoencephalopathy", "MONDO:0016319": "congenital insensitivity to pain with hyperhidrosis", "MONDO:0016320": "rare hereditary thrombophilia", "MONDO:0016321": "pulmonary interstitial glycogenosis", "MONDO:0016322": "neuroendocrine cell hyperplasia of infancy", "MONDO:0016323": "chronic respiratory distress with surfactant metabolism deficiency", "MONDO:0016325": "glycogen storage disease with hypertrophic cardiomyopathy", "MONDO:0016326": "lysosomal disease with hypertrophic cardiomyopathy", "MONDO:0016327": "mitochondrial disease with hypertrophic cardiomyopathy", "MONDO:0016328": "fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy", "MONDO:0016330": "non-familial hypertrophic cardiomyopathy", "MONDO:0016331": "infantile systemic hyalinosis", "MONDO:0016332": "hypertrophic cardiomyopathy due to intensive athletic training", "MONDO:0016333": "familial dilated cardiomyopathy", "MONDO:0016334": "neuromuscular disease with dilated cardiomyopathy", "MONDO:0016335": "mitochondrial disease with dilated cardiomyopathy", "MONDO:0016336": "fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy", "MONDO:0016337": "syndrome associated with dilated cardiomyopathy", "MONDO:0016338": "non-familial dilated cardiomyopathy", "MONDO:0016340": "familial restrictive cardiomyopathy", "MONDO:0016341": "lysosomal disease with restrictive cardiomyopathy", "MONDO:0016342": "familial isolated arrhythmogenic right ventricular dysplasia", "MONDO:0016343": "unclassified cardiomyopathy", "MONDO:0016344": "hydranencephaly (disease)", "MONDO:0016345": "non-familial restrictive cardiomyopathy", "MONDO:0016346": "hydrocephalus-obesity-hypogonadism syndrome", "MONDO:0016347": "obsolete rare cardiac rhythm disease", "MONDO:0016348": "non-genetic cardiac rhythm disease", "MONDO:0016349": "congenital hydrocephalus", "MONDO:0016350": "hydrocephalus-blue sclerae-nephropathy syndrome", "MONDO:0016351": "anti-HLA hyperimmunization", "MONDO:0016352": "idiopathic inherited hypercalciuria", "MONDO:0016353": "palmoplantar keratoderma-spastic paralysis syndrome", "MONDO:0016354": "xeroderma pigmentosum-Cockayne syndrome complex", "MONDO:0016355": "semilobar holoprosencephaly", "MONDO:0016356": "diffuse cutaneous systemic sclerosis", "MONDO:0016357": "dysplastic cortical hyperostosis", "MONDO:0016358": "limited cutaneous systemic sclerosis", "MONDO:0016359": "limited systemic sclerosis", "MONDO:0016360": "marcothrombocytopenia with mitral valve insufficiency", "MONDO:0016361": "isolated hereditary giant platelet disorder", "MONDO:0016362": "attenuated familial adenomatous polyposis", "MONDO:0016363": "obsolete rare hereditary hemochromatosis", "MONDO:0016364": "Joubert syndrome with ocular defect", "MONDO:0016365": "familial primary hyperparathyroidism", "MONDO:0016366": "maternal phenylketonuria", "MONDO:0016367": "dermatomyositis", "MONDO:0016368": "Rothmund-Thomson syndrome type 1", "MONDO:0016369": "Rothmund-Thomson syndrome type 2", "MONDO:0016370": "Marchiafava-Bignami disease", "MONDO:0016371": "combined hyperactive dysfunction syndrome of the cranial nerves", "MONDO:0016372": "glossopharyngeal neuralgia", "MONDO:0016373": "isolated facial myokymia", "MONDO:0016374": "cranial neuralgia", "MONDO:0016375": "acquired peripheral movement disorder", "MONDO:0016376": "confetti-like macular atrophy", "MONDO:0016377": "Pitt-Hopkins-like syndrome", "MONDO:0016378": "maternal hyperthermia induced birth defects", "MONDO:0016379": "erosive pustular dermatosis of the scalp", "MONDO:0016380": "acquired hypertrichosis lanuginosa", "MONDO:0016381": "hypertrichosis lanuginosa congenita", "MONDO:0016382": "hereditary poikiloderma", "MONDO:0016383": "nephrogenic diabetes insipidus", "MONDO:0016384": "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome", "MONDO:0016385": "hypogonadism-mitral valve prolapse-intellectual disability syndrome", "MONDO:0016386": "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome", "MONDO:0016387": "mitochondrial oxidative phosphorylation disorder", "MONDO:0016390": "familial isolated hypoparathyroidism", "MONDO:0016391": "neonatal diabetes mellitus", "MONDO:0016392": "cerebellar hypoplasia-tapetoretinal degeneration syndrome", "MONDO:0016394": "sporadic infantile bilateral striatal necrosis", "MONDO:0016395": "foveal hypoplasia-presenile cataract syndrome", "MONDO:0016396": "pontocerebellar hypoplasia type 1", "MONDO:0016397": "lysosomal disease with epilepsy", "MONDO:0016398": "peroxisomal disease with epilepsy", "MONDO:0016399": "amino acid or protein metabolism disease with epilepsy", "MONDO:0016400": "metal transport or utilization disorder with epilepsy", "MONDO:0016401": "energy metabolism disorder with epilepsy", "MONDO:0016402": "mitochondrial disease with epilepsy", "MONDO:0016403": "mitochondrial disease with peripheral neuropathy", "MONDO:0016404": "metabolic neurotransmission anomaly with epilepsy", "MONDO:0016405": "sterol metabolism disorder with epilepsy", "MONDO:0016406": "other metabolic disease with epilepsy", "MONDO:0016407": "oligomeganephronia", "MONDO:0016408": "permanent congenital hypothyroidism", "MONDO:0016409": "primary congenital hypothyroidism", "MONDO:0016410": "central congenital hypothyroidism", "MONDO:0016411": "hypothyroidism due to deficient transcription factors involved in pituitary development or function", "MONDO:0016412": "peripheral hypothyroidism", "MONDO:0016413": "congenital hypothyroidism due to maternal intake of antithyroid drugs", "MONDO:0016414": "hypotrichosis-intellectual disability, Lopes type", "MONDO:0016416": "diphallia", "MONDO:0016417": "congenital ichthyosis-microcephalus-tetraplegia syndrome", "MONDO:0016418": "multiple system atrophy, cerebellar type", "MONDO:0016419": "hereditary breast carcinoma", "MONDO:0016420": "familial flecked retinopathy", "MONDO:0016421": "toxic oil syndrome", "MONDO:0016422": "autoimmune polyendocrinopathy type 3", "MONDO:0016423": "autoimmune polyendocrinopathy type 4", "MONDO:0016424": "progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome", "MONDO:0016425": "Hughes-Stovin syndrome", "MONDO:0016426": "fusariosis", "MONDO:0016428": "multiple sclerosis variant", "MONDO:0016429": "Marburg acute multiple sclerosis", "MONDO:0016430": "Balo concentric sclerosis", "MONDO:0016431": "autosomal dominant Charcot-Marie-Tooth disease type 2M", "MONDO:0016432": "heart-hand syndrome", "MONDO:0016433": "dysmorphism-short stature-deafness-disorder of sex development syndrome", "MONDO:0016434": "acquired dermis elastic tissue disorder", "MONDO:0016435": "acquired dermis elastic tissue disorder with decreased elastic tissue", "MONDO:0016436": "acquired dermis elastic tissue disorder with increased elastic tissue", "MONDO:0016437": "late-onset focal dermal elastosis", "MONDO:0016438": "linear focal dermal elastosis", "MONDO:0016439": "elastoderma", "MONDO:0016440": "elastofibroma dorsi", "MONDO:0016441": "acquired pseudoxanthoma elasticum", "MONDO:0016442": "elastoma", "MONDO:0016443": "papular elastorrhexis", "MONDO:0016444": "primary anetoderma", "MONDO:0016445": "familial anetoderma", "MONDO:0016446": "acquired cutis laxa", "MONDO:0016447": "white fibrous papulosis of the neck", "MONDO:0016448": "pseudoxanthoma elasticum-like papillary dermal elastolysis", "MONDO:0016449": "mid-dermal elastolysis", "MONDO:0016450": "autoimmune hemolytic anemia, cold type", "MONDO:0016451": "idiopathic hypersomnia with long sleep time", "MONDO:0016452": "idiopathic hypersomnia without long sleep time", "MONDO:0016453": "foodborne botulism", "MONDO:0016454": "severe early-onset axonal neuropathy due to NEFL deficiency", "MONDO:0016455": "virus-associated trichodysplasia spinulosa", "MONDO:0016456": "5q14.3 microdeletion syndrome", "MONDO:0016457": "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome", "MONDO:0016458": "8q12 microduplication syndrome", "MONDO:0016459": "2q23.1 microdeletion syndrome", "MONDO:0016460": "polyvalvular heart disease syndrome", "MONDO:0016461": "5q35 microduplication syndrome", "MONDO:0016462": "isolated agammaglobulinemia", "MONDO:0016463": "syndromic agammaglobulinemia", "MONDO:0016464": "insulin-resistance syndrome type B", "MONDO:0016466": "asbestosis", "MONDO:0016467": "isotretinoin syndrome", "MONDO:0016468": "toxin-mediated infectious botulism", "MONDO:0016469": "Ehlers-Danlos syndrome, vascular-like type", "MONDO:0016470": "Ehlers-Danlos/osteogenesis imperfecta syndrome", "MONDO:0016471": "pachyonychia congenita", "MONDO:0016472": "dracunculiasis", "MONDO:0016473": "familial rhabdoid tumor", "MONDO:0016474": "drug-induced lupus erythematosus", "MONDO:0016475": "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15", "MONDO:0016476": "Beckwith-Wiedemann syndrome due to CDKN1C mutation", "MONDO:0016477": "Beckwith-Wiedemann syndrome due to 11p15 microdeletion", "MONDO:0016478": "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion", "MONDO:0016479": "silver-Russell syndrome due to 7p11.2p13 microduplication", "MONDO:0016480": "silver-Russell syndrome due to an imprinting defect of 11p15", "MONDO:0016481": "silver-Russell syndrome due to 11p15 microduplication", "MONDO:0016482": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11", "MONDO:0016483": "intracranial berry aneurysm", "MONDO:0016484": "Usher syndrome type 2", "MONDO:0016485": "Usher syndrome type 3", "MONDO:0016486": "beta-thalassemia major", "MONDO:0016487": "beta-thalassemia intermedia", "MONDO:0016488": "beta-thalassemia associated with another hemoglobin anomaly", "MONDO:0016489": "delta-beta-thalassemia", "MONDO:0016490": "hemoglobin C-beta-thalassemia syndrome", "MONDO:0016491": "hemoglobin E-beta-thalassemia syndrome", "MONDO:0016492": "beta-thalassemia with other manifestations", "MONDO:0016493": "variant of Guillain-Barre syndrome", "MONDO:0016494": "regional variant of Guillain-Barre syndrome", "MONDO:0016495": "functional variant of Guillain-Barre syndrome", "MONDO:0016496": "pharyngeal-cervical-brachial variant of Guillain-Barre syndrome", "MONDO:0016497": "paraparetic variant of Guillain-Barre syndrome", "MONDO:0016498": "acute pure sensory neuropathy", "MONDO:0016499": "acute pandysautonomia", "MONDO:0016500": "acute sensory ataxic neuropathy", "MONDO:0016501": "Hermansky-Pudlak syndrome with pulmonary fibrosis", "MONDO:0016502": "Hermansky-Pudlak syndrome without pulmonary fibrosis", "MONDO:0016503": "congenital erosive and vesicular dermatosis", "MONDO:0016504": "primary unilateral adrenal hyperplasia", "MONDO:0016505": "aldosterone-producing adrenal cortex adenoma", "MONDO:0016506": "ectopic aldosterone-producing tumor", "MONDO:0016507": "rare surgically correctable form of primary aldosteronism", "MONDO:0016508": "rare non surgically correctable form of primary aldosteronism", "MONDO:0016509": "microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome", "MONDO:0016510": "epibulbar lipodermoid-preauricular appendage-polythelia syndrome", "MONDO:0016511": "infectious embryofetopathy", "MONDO:0016512": "Kabuki syndrome", "MONDO:0016513": "alpha-thalassemia-related diseases", "MONDO:0016514": "epidermolysis bullosa simplex with anodontia/hypodontia", "MONDO:0016515": "Kallmann syndrome-heart disease syndrome", "MONDO:0016516": "Kenny-Caffey syndrome", "MONDO:0016517": "obsolete rare genetic vascular disease", "MONDO:0016518": "isolated punctate palmoplantar keratoderma", "MONDO:0016521": "muscular pseudohypertrophy-hypothyroidism syndrome", "MONDO:0016522": "Kousseff syndrome", "MONDO:0016523": "bronchogenic cyst (disease)", "MONDO:0016524": "congenital vascular bone syndrome", "MONDO:0016525": "familial hyperaldosteronism", "MONDO:0016526": "trisomy 9p", "MONDO:0016527": "glycogen storage disease due to lactate dehydrogenase deficiency", "MONDO:0016528": "limb body wall complex", "MONDO:0016529": "duplication of urethra", "MONDO:0016530": "laryngocele", "MONDO:0016531": "digestive duplication", "MONDO:0016532": "Lennox-Gastaut syndrome", "MONDO:0016533": "apolipoprotein A-II amyloidosis", "MONDO:0016534": "infundibulo-neurohypophysitis", "MONDO:0016535": "hypohidrotic ectodermal dysplasia", "MONDO:0016536": "autosomal recessive lymphoproliferative disease", "MONDO:0016537": "lymphoproliferative syndrome", "MONDO:0016539": "atypical hypotonia-cystinuria syndrome", "MONDO:0016540": "congenital secondary polycythemia", "MONDO:0016541": "acquired secondary polycythemia", "MONDO:0016542": "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome", "MONDO:0016543": "hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "MONDO:0016544": "IgG4-related mesenteritis", "MONDO:0016545": "leukoencephalopathy-palmoplantar keratoderma syndrome", "MONDO:0016546": "primary orthostatic tremor", "MONDO:0016547": "Beckwith-Wiedemann syndrome due to NSD1 mutation", "MONDO:0016548": "megacystis-megaureter syndrome", "MONDO:0016549": "primary megaureter, adult-onset form", "MONDO:0016550": "congenital primary megaureter, obstructed form", "MONDO:0016551": "congenital primary megaureter, refluxing form", "MONDO:0016552": "congenital primary megaureter, nonrefluxing and unobstructed form", "MONDO:0016553": "isolated congenital hypogonadotropic hypogonadism", "MONDO:0016554": "neonatal iodine exposure", "MONDO:0016555": "transient congenital hypothyroidism due to maternal factor", "MONDO:0016556": "transient congenital hypothyroidism due to neonatal factor", "MONDO:0016557": "leukonychia totalis", "MONDO:0016558": "familial congenital mirror movements", "MONDO:0016559": "glaucoma secondary to spherophakia/ectopia lentis and megalocornea", "MONDO:0016560": "ptosis-syndactyly-learning difficulties syndrome", "MONDO:0016561": "1q44 microdeletion syndrome", "MONDO:0016562": "progressive supranuclear palsy-pure akinesia with gait freezing syndrome", "MONDO:0016563": "progressive supranuclear palsy-corticobasal syndrome", "MONDO:0016564": "progressive supranuclear palsy-progressive non-fluent aphasia syndrome", "MONDO:0016565": "syndromic genetic obesity", "MONDO:0016566": "loiasis", "MONDO:0016567": "locked-in syndrome", "MONDO:0016568": "Lowe-Kohn-Cohen syndrome", "MONDO:0016570": "primary pulmonary lymphoma", "MONDO:0016571": "macrocephaly-short stature-paraplegia syndrome", "MONDO:0016572": "central bilateral macrogyria", "MONDO:0016573": "acute fatty liver of pregnancy", "MONDO:0016574": "hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome", "MONDO:0016575": "primary ciliary dyskinesia", "MONDO:0016576": "split hand-foot malformation", "MONDO:0016577": "biliary atresia with splenic malformation syndrome", "MONDO:0016578": "mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies", "MONDO:0016579": "dominant hypophosphatemia with nephrolithiasis or osteoporosis", "MONDO:0016580": "congenital pulmonary airway malformation", "MONDO:0016581": "conotruncal heart malformations", "MONDO:0016582": "congenital mitral malformation", "MONDO:0016583": "familial intestinal malrotation-facial anomalies syndrome", "MONDO:0016584": "mandibuloacral dysplasia", "MONDO:0016586": "systemic mastocytosis", "MONDO:0016587": "arrhythmogenic right ventricular cardiomyopathy", "MONDO:0016588": "infantile mercury poisoning", "MONDO:0016589": "progressive cerebello-cerebral atrophy", "MONDO:0016591": "sporadic adult-onset ataxia of unknown etiology", "MONDO:0016592": "non-hereditary degenerative ataxia", "MONDO:0016593": "acquired ataxia", "MONDO:0016594": "superficial siderosis", "MONDO:0016595": "inhalational anthrax", "MONDO:0016596": "hyperphosphatasia-intellectual disability syndrome", "MONDO:0016598": "autosomal recessive secondary polycythemia not associated with VHL gene", "MONDO:0016599": "autosomal dominant secondary polycythemia", "MONDO:0016600": "acute neonatal citrullinemia type I", "MONDO:0016601": "adult-onset citrullinemia type I", "MONDO:0016602": "citrin deficiency", "MONDO:0016603": "citrullinemia type II", "MONDO:0016604": "dysraphism-cleft lip/palate-limb reduction defects syndrome", "MONDO:0016605": "perinatal lethal hypophosphatasia", "MONDO:0016606": "prenatal benign hypophosphatasia", "MONDO:0016607": "odontohypophosphatasia", "MONDO:0016608": "megalencephaly (disease)", "MONDO:0016609": "inflammatory myopathy with abundant macrophages", "MONDO:0016610": "idiopathic eosinophilic myositis", "MONDO:0016611": "lipoblastoma", "MONDO:0016612": "X-linked cerebellar ataxia", "MONDO:0016613": "APC-related attenuated familial adenomatous polyposis", "MONDO:0016614": "autosomal recessive ataxia due to PEX10 deficiency", "MONDO:0016615": "oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies", "MONDO:0016616": "oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies", "MONDO:0016617": "rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies", "MONDO:0016618": "rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies", "MONDO:0016619": "autosomal recessive hypohidrotic ectodermal dysplasia", "MONDO:0016620": "primary hypertrophic osteoarthropathy", "MONDO:0016621": "juvenile Huntington disease", "MONDO:0016622": "Melhem-Fahl syndrome", "MONDO:0016623": "obsolete rare deficiency anemia", "MONDO:0016624": "inherited deficiency anemia", "MONDO:0016625": "acquired deficiency anemia", "MONDO:0016626": "hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency", "MONDO:0016627": "obsolete rare hemorrhagic disorder", "MONDO:0016628": "hemorrhagic disorder due to a coagulation factors defect", "MONDO:0016629": "hemorrhagic disorder due to a platelet anomaly", "MONDO:0016630": "isolated delta-storage pool disease", "MONDO:0016631": "hemorrhagic disorder due to an acquired platelet anomaly", "MONDO:0016632": "thrombotic disorder due to a coagulation factors defect", "MONDO:0016633": "thrombotic disorder due to a constitutional coagulation factors defect", "MONDO:0016634": "thrombotic disorder due to an acquired coagulation factors defect", "MONDO:0016635": "thrombotic disorder due to a platelet anomaly", "MONDO:0016636": "thrombotic disorder due to a constitutional platelet anomaly", "MONDO:0016637": "thrombotic disorder due to an acquired platelet anomaly", "MONDO:0016638": "familial hypodysfibrinogenemia", "MONDO:0016639": "lower limb deficiency-hypospadias syndrome", "MONDO:0016641": "limb transversal defect-cardiac anomaly syndrome", "MONDO:0016642": "meningioma (disease)", "MONDO:0016643": "frontonasal dysplasia", "MONDO:0016644": "Logopenic progressive aphasia", "MONDO:0016645": "obsolete rare neoplastic disease", "MONDO:0016646": "autosomal dominant optic atrophy and peripheral neuropathy", "MONDO:0016647": "autosomal recessive Stickler syndrome", "MONDO:0016648": "multiple epiphyseal dysplasia (disease)", "MONDO:0016649": "Warburg micro syndrome", "MONDO:0016650": "paternal uniparental disomy of chromosome 1", "MONDO:0016651": "maternal uniparental disomy of chromosome 1", "MONDO:0016652": "2q31.1 microdeletion syndrome", "MONDO:0016653": "2q33.1 microdeletion syndrome", "MONDO:0016654": "ring chromosome 5", "MONDO:0016655": "6p22 microdeletion syndrome", "MONDO:0016656": "7q31 microdeletion syndrome", "MONDO:0016657": "8p11.2 deletion syndrome", "MONDO:0016658": "8p23.1 microdeletion syndrome", "MONDO:0016659": "8p23.1 duplication syndrome", "MONDO:0016660": "autosomal recessive primary microcephaly", "MONDO:0016661": "infantile onset panniculitis with uveitis and systemic granulomatosis", "MONDO:0016662": "idiopathic recurrent pericarditis", "MONDO:0016663": "overlapping connective tissue disease", "MONDO:0016664": "drug-induced vasculitis", "MONDO:0016665": "unclassified vasculitis", "MONDO:0016666": "unexplained long-lasting fever/inflammatory syndrome", "MONDO:0016667": "sickle cell disease associated with an other hemoglobin anomaly", "MONDO:0016668": "sickle cell-beta-thalassemia disease syndrome", "MONDO:0016669": "sickle cell-hemoglobin c disease syndrome", "MONDO:0016670": "sickle cell-hemoglobin d disease syndrome", "MONDO:0016671": "sickle cell-hemoglobin E disease syndrome", "MONDO:0016672": "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "MONDO:0016673": "localized junctional epidermolysis bullosa, non-Herlitz type", "MONDO:0016674": "46,XY partial gonadal dysgenesis", "MONDO:0016675": "distal arthrogryposis type 10", "MONDO:0016677": "toxic or drug-related embryofetopathy", "MONDO:0016678": "maternal disease-related embryofetopathy", "MONDO:0016679": "obsolete rare tumor of neuroepithelial tissue", "MONDO:0016680": "high grade astrocytic tumor", "MONDO:0016681": "gliosarcoma", "MONDO:0016682": "giant cell glioblastoma", "MONDO:0016683": "gliomatosis cerebri", "MONDO:0016684": "anaplastic astrocytoma", "MONDO:0016685": "low-grade astrocytoma", "MONDO:0016686": "diffuse astrocytoma", "MONDO:0016687": "protoplasmic astrocytoma", "MONDO:0016688": "fibrillary astrocytoma", "MONDO:0016689": "gemistocytic astrocytoma", "MONDO:0016690": "pleomorphic xanthoastrocytoma", "MONDO:0016691": "pilocytic astrocytoma", "MONDO:0016692": "pilomyxoid astrocytoma", "MONDO:0016693": "subependymal giant cell astrocytoma", "MONDO:0016695": "oligodendroglioma", "MONDO:0016696": "anaplastic oligodendroglioma", "MONDO:0016697": "low grade ependymoma", "MONDO:0016698": "ependymoma", "MONDO:0016699": "myxopapillary ependymoma", "MONDO:0016700": "anaplastic ependymoma", "MONDO:0016701": "oligoastrocytic tumor", "MONDO:0016702": "oligoastrocytoma", "MONDO:0016703": "anaplastic oligoastrocytoma", "MONDO:0016704": "glial tumor of neuroepithelial tissue with unknown origin", "MONDO:0016705": "angiocentric glioma", "MONDO:0016706": "chordoid glioma of the third ventricle", "MONDO:0016707": "astroblastoma", "MONDO:0016708": "embryonal tumor of neuroepithelial tissue", "MONDO:0016709": "anaplastic/large cell medulloblastoma", "MONDO:0016710": "medulloblastoma with extensive nodularity", "MONDO:0016711": "desmoplastic/nodular medulloblastoma", "MONDO:0016712": "classic medulloblastoma", "MONDO:0016713": "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor", "MONDO:0016715": "ependymoblastoma", "MONDO:0016717": "choroid plexus neoplasm", "MONDO:0016718": "choroid plexus carcinoma", "MONDO:0016719": "microcephaly-seizures-intellectual disability-heart disease syndrome", "MONDO:0016721": "pineal tumor of neuroepithelial tissue", "MONDO:0016722": "pineoblastoma", "MONDO:0016723": "pineocytoma (disease)", "MONDO:0016724": "papillary tumor of the pineal region", "MONDO:0016726": "neuronal tumor", "MONDO:0016727": "extraventricular neurocytoma", "MONDO:0016729": "mixed neuronal-glial tumor", "MONDO:0016730": "gangliocytoma", "MONDO:0016731": "desmoplastic infantile astrocytoma/ganglioglioma", "MONDO:0016733": "ganglioglioma", "MONDO:0016734": "anaplastic ganglioglioma", "MONDO:0016735": "papillary glioneuronal tumor", "MONDO:0016736": "rosette-forming glioneuronal tumor of fourth ventricule", "MONDO:0016738": "primary germ cell tumor of central nervous system", "MONDO:0016739": "yolk sac tumor of central nervous system", "MONDO:0016740": "choriocarcinoma of the central nervous system", "MONDO:0016742": "mixed germ cell tumor of central nervous system", "MONDO:0016743": "tumor of meninges", "MONDO:0016744": "primary melanocytic tumor of central nervous system", "MONDO:0016745": "diffuse leptomeningeal melanocytosis", "MONDO:0016746": "meningeal melanocytoma", "MONDO:0016747": "primary melanoma of the central nervous system", "MONDO:0016748": "hemangioblastoma", "MONDO:0016749": "tumor of cranial and spinal nerves", "MONDO:0016750": "microcephaly-cleft palate syndrome", "MONDO:0016751": "malignant perineurioma", "MONDO:0016752": "benign peripheral nerve sheath tumor", "MONDO:0016755": "neurofibroma", "MONDO:0016756": "inherited nervous system cancer-predisposing syndrome", "MONDO:0016757": "malignant triton tumor", "MONDO:0016758": "microcephaly-brain defect-spasticity-hypernatremia syndrome", "MONDO:0016759": "pontocerebellar hypoplasia type 2", "MONDO:0016760": "microcephaly-microcornea syndrome, Seemanova type", "MONDO:0016761": "spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia", "MONDO:0016762": "microcornea-corectopia-macular hypoplasia syndrome", "MONDO:0016763": "spondylometaphyseal dysplasia", "MONDO:0016764": "isolated anophthalmia-microphthalmia syndrome", "MONDO:0016765": "19p13.12 microdeletion syndrome", "MONDO:0016766": "obsolete rare lichen planus", "MONDO:0016767": "rare cutaneous lichen planus", "MONDO:0016768": "rare mucosal lichen planus", "MONDO:0016769": "linear lichen planus", "MONDO:0016770": "actinic lichen planus", "MONDO:0016771": "annular atrophic lichen planus", "MONDO:0016772": "annular lichen planus", "MONDO:0016773": "atrophic lichen planus", "MONDO:0016774": "lichen planus pigmentosus", "MONDO:0016775": "lichen planus pemphigoides", "MONDO:0016776": "frontal fibrosing alopecia", "MONDO:0016777": "inhalational botulism", "MONDO:0016778": "iatrogenic botulism", "MONDO:0016779": "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect", "MONDO:0016780": "paternal 14q32.2 microdeletion syndrome", "MONDO:0016781": "maternal 14q32.2 microdeletion syndrome", "MONDO:0016782": "paternal 14q32.2 hypomethylation syndrome", "MONDO:0016783": "maternal 14q32.2 hypermethylation syndrome", "MONDO:0016784": "gestational trophoblastic disease", "MONDO:0016785": "complete hydatidiform mole", "MONDO:0016786": "partial hydatidiform mole", "MONDO:0016787": "epithelioid trophoblastic tumor", "MONDO:0016788": "genetic hyperferritinemia without iron overload", "MONDO:0016789": "pyruvate metabolism disorder", "MONDO:0016790": "tricarboxylic acid cycle disorder", "MONDO:0016791": "mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies", "MONDO:0016792": "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA", "MONDO:0016793": "mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA", "MONDO:0016794": "maternally-inherited mitochondrial myopathy", "MONDO:0016795": "mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA", "MONDO:0016796": "mitochondrial DNA depletion syndrome, encephalomyopathic form", "MONDO:0016797": "multiple mitochondrial DNA deletion syndrome", "MONDO:0016798": "ataxia neuropathy spectrum", "MONDO:0016799": "mitochondrial oxidative phosphorylation disorder with no known mechanism", "MONDO:0016800": "mitochondrial membrane transport disorder", "MONDO:0016801": "mitochondrial substrate carrier disorder", "MONDO:0016802": "mitochondrial protein import disorder", "MONDO:0016803": "unspecified inborn mitochondrial disorder", "MONDO:0016804": "exercise intolerance with lactic acidosis", "MONDO:0016805": "isolated oxidative phosphorylation complex disorder", "MONDO:0016806": "maternally-inherited mitochondrial dystonia", "MONDO:0016807": "pure mitochondrial myopathy", "MONDO:0016809": "spinocerebellar ataxia with epilepsy", "MONDO:0016810": "autosomal recessive progressive external ophthalmoplegia", "MONDO:0016811": "renal tubulopathy-encephalopathy-liver failure syndrome", "MONDO:0016812": "dopa-responsive dystonia", "MONDO:0016814": "maternally-inherited Leigh syndrome", "MONDO:0016815": "Leigh syndrome with leukodystrophy", "MONDO:0016816": "Leigh syndrome with nephrotic syndrome", "MONDO:0016817": "Meier-Gorlin syndrome", "MONDO:0016818": "Mikati-Najjar-Sahli syndrome", "MONDO:0016819": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome", "MONDO:0016820": "Moyamoya disease", "MONDO:0016821": "shoulder and girdle defects-familial intellectual disability syndrome", "MONDO:0016822": "myalgia-eosinophilia syndrome associated with tryptophan", "MONDO:0016823": "mycetoma", "MONDO:0016824": "myofibromatosis", "MONDO:0016825": "mitochondrial myopathy-lactic acidosis-deafness syndrome", "MONDO:0016826": "methylmalonic acidemia with homocystinuria", "MONDO:0016827": "myopathy-growth delay-intellectual disability-hypospadias syndrome", "MONDO:0016828": "autosomal recessive sideroblastic anemia", "MONDO:0016829": "familial visceral myopathy", "MONDO:0016830": "Emery-Dreifuss muscular dystrophy", "MONDO:0016831": "linear verrucous nevus syndrome", "MONDO:0016832": "distal 7q11.23 microduplication syndrome", "MONDO:0016833": "14q12 microdeletion syndrome", "MONDO:0016834": "16p11.2p12.2 microduplication syndrome", "MONDO:0016835": "14q11.2 microduplication syndrome", "MONDO:0016836": "16p13.11 microdeletion syndrome", "MONDO:0016837": "16p13.11 microduplication syndrome", "MONDO:0016838": "16q24.3 microdeletion syndrome", "MONDO:0016839": "distal 17p13.3 microdeletion syndrome", "MONDO:0016840": "trisomy 17p", "MONDO:0016841": "20p12.3 microdeletion syndrome", "MONDO:0016842": "paternal 20q13.2q13.3 microdeletion syndrome", "MONDO:0016843": "20q13.33 microdeletion syndrome", "MONDO:0016844": "trisomy 20p", "MONDO:0016845": "21q22.11q22.12 microdeletion syndrome", "MONDO:0016846": "distal 22q11.2 microduplication syndrome", "MONDO:0016847": "trisomy 1q", "MONDO:0016848": "juvenile temporal arteritis", "MONDO:0016850": "atypical Norrie disease due to monosomy Xp11.3", "MONDO:0016851": "maternal uniparental disomy of chromosome X", "MONDO:0016852": "paternal uniparental disomy of chromosome X", "MONDO:0016853": "ring chromosome Y", "MONDO:0016854": "49,XXXYY syndrome", "MONDO:0016855": "Mowat-Wilson syndrome due to monosomy 2q22", "MONDO:0016856": "Mowat-Wilson syndrome due to a ZEB2 point mutation", "MONDO:0016857": "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome", "MONDO:0016858": "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome", "MONDO:0016859": "blepharophimosis-epicanthus inversus-ptosis due to copy number variations", "MONDO:0016860": "familial adenomatous polyposis due to 5q22.2 microdeletion", "MONDO:0016861": "Alagille syndrome due to 20p12 microdeletion", "MONDO:0016862": "Alagille syndrome due to a JAG1 point mutation", "MONDO:0016863": "Okihiro syndrome due to 20q13 microdeletion", "MONDO:0016864": "Okihiro syndrome due to a point mutation", "MONDO:0016865": "Kleefstra syndrome due to a point mutation", "MONDO:0016866": "partial deletion of chromosome 1", "MONDO:0016867": "partial deletion of chromosome 2", "MONDO:0016868": "partial deletion of chromosome 3", "MONDO:0016869": "partial deletion of chromosome 4", "MONDO:0016870": "partial deletion of chromosome 5", "MONDO:0016871": "partial deletion of chromosome 6", "MONDO:0016872": "partial deletion of chromosome 7", "MONDO:0016873": "partial deletion of chromosome 8", "MONDO:0016874": "partial deletion of chromosome 9", "MONDO:0016875": "partial deletion of chromosome 10", "MONDO:0016876": "partial deletion of chromosome 11", "MONDO:0016877": "partial deletion of the long arm of chromosome 12", "MONDO:0016878": "partial deletion of chromosome 16", "MONDO:0016879": "partial deletion of chromosome 17", "MONDO:0016880": "partial deletion of chromosome 18", "MONDO:0016881": "partial deletion of chromosome 19", "MONDO:0016882": "partial deletion of chromosome 20", "MONDO:0016883": "partial deletion of the short arm of chromosome 1", "MONDO:0016884": "partial deletion of the short arm of chromosome 2", "MONDO:0016885": "partial deletion of the short arm of chromosome 3", "MONDO:0016887": "partial deletion of the short arm of chromosome 5", "MONDO:0016888": "partial deletion of the short arm of chromosome 6", "MONDO:0016889": "partial deletion of the short arm of chromosome 7", "MONDO:0016890": "partial deletion of the short arm of chromosome 8", "MONDO:0016891": "partial deletion of the short arm of chromosome 9", "MONDO:0016892": "partial deletion of the short arm of chromosome 10", "MONDO:0016893": "partial deletion of the short arm of chromosome 11", "MONDO:0016894": "partial deletion of the short arm of chromosome 16", "MONDO:0016897": "partial deletion of the short arm of chromosome 19", "MONDO:0016898": "partial monosomy of the short arm of chromosome 20", "MONDO:0016899": "Duchenne and Becker muscular dystrophy", "MONDO:0016901": "partial deletion of the long arm of chromosome 2", "MONDO:0016902": "partial deletion of the long arm of chromosome 3", "MONDO:0016903": "partial deletion of the long arm of chromosome 4", "MONDO:0016904": "partial deletion of the long arm of chromosome 5", "MONDO:0016905": "partial deletion of the long arm of chromosome 6", "MONDO:0016906": "partial deletion of the long arm of chromosome 7", "MONDO:0016907": "partial deletion of the long arm of chromosome 8", "MONDO:0016908": "partial monosomy of the long arm of chromosome 9", "MONDO:0016909": "partial monosomy of the long arm of chromosome 10", "MONDO:0016910": "partial deletion of the long arm of chromosome 11", "MONDO:0016911": "partial deletion of the long arm of chromosome 13", "MONDO:0016912": "partial deletion of the long arm of chromosome 14", "MONDO:0016913": "partial deletion of the long arm of chromosome 15", "MONDO:0016914": "partial deletion of the long arm of chromosome 16", "MONDO:0016915": "partial deletion of the long arm of chromosome 17", "MONDO:0016917": "partial deletion of the long arm of chromosome 19", "MONDO:0016918": "partial deletion of the long arm of chromosome 20", "MONDO:0016919": "partial deletion of the long arm of chromosome 21", "MONDO:0016921": "partial duplication of chromosome 1", "MONDO:0016922": "partial duplication of chromosome 2", "MONDO:0016923": "partial duplication of chromosome 3", "MONDO:0016924": "partial duplication of chromosome 4", "MONDO:0016925": "partial trisomy/tetrasomy of chromosome 5", "MONDO:0016927": "partial duplication of chromosome 6", "MONDO:0016928": "partial duplication of chromosome 7", "MONDO:0016929": "partial duplication of chromosome 8", "MONDO:0016930": "partial trisomy/tetrasomy of chromosome 9", "MONDO:0016931": "partial duplication of chromosome 10", "MONDO:0016932": "partial duplication of chromosome 11", "MONDO:0016933": "partial trisomy/tetrasomy of the short arm of chromosome 12", "MONDO:0016934": "partial duplication of chromosome 16", "MONDO:0016935": "partial duplication of chromosome 17", "MONDO:0016936": "partial trisomy/tetrasomy of chromosome 18", "MONDO:0016937": "partial duplication of chromosome 19", "MONDO:0016938": "partial trisomy of chromosome 20", "MONDO:0016939": "partial duplication of the short arm of chromosome 2", "MONDO:0016940": "partial duplication of the short arm of chromosome 3", "MONDO:0016941": "partial duplication of the short arm of chromosome 4", "MONDO:0016942": "partial trisomy/tetrasomy of the short arm of chromosome 5", "MONDO:0016943": "partial duplication of the short arm of chromosome 6", "MONDO:0016944": "partial duplication of the short arm of chromosome 7", "MONDO:0016945": "partial duplication of the short arm of chromosome 8", "MONDO:0016947": "partial duplication of the short arm of chromosome 10", "MONDO:0016948": "partial duplication of the short arm of chromosome 11", "MONDO:0016949": "partial duplication of the short arm of chromosome 16", "MONDO:0016950": "partial duplication of the short arm of chromosome 17", "MONDO:0016951": "partial trisomy/tetrasomy of the short arm of chromosome 18", "MONDO:0016952": "partial duplication of the long arm of chromosome 1", "MONDO:0016953": "partial duplication of the long arm of chromosome 2", "MONDO:0016954": "partial duplication of the long arm of chromosome 3", "MONDO:0016955": "partial duplication of the long arm of chromosome 4", "MONDO:0016956": "partial trisomy of the long arm of chromosome 5", "MONDO:0016957": "partial duplication of the long arm of chromosome 6", "MONDO:0016958": "partial duplication of the long arm of chromosome 7", "MONDO:0016959": "partial duplication of the long arm of chromosome 8", "MONDO:0016960": "partial trisomy of the long arm of chromosome 9", "MONDO:0016961": "partial duplication of the long arm of chromosome 10", "MONDO:0016964": "partial duplication of the long arm of chromosome 14", "MONDO:0016965": "partial duplication of the long arm of chromosome 15", "MONDO:0016966": "partial trisomy of the long arm of chromosome 16", "MONDO:0016967": "partial duplication of the long arm of chromosome 17", "MONDO:0016968": "partial trisomy of the long arm of chromosome 18", "MONDO:0016969": "partial duplication of the long arm of chromosome 19", "MONDO:0016970": "partial trisomy of the long arm of chromosome 20", "MONDO:0016971": "limb-girdle muscular dystrophy", "MONDO:0016972": "partial duplication of the long arm of chromosome 22", "MONDO:0016974": "thymoma type B", "MONDO:0016975": "thymoma type AB", "MONDO:0016976": "well-differentiated thymic neuroendocrine carcinoma", "MONDO:0016977": "moderately-differentiated thymic neuroendocrine carcinoma", "MONDO:0016978": "poorly differentiated thymic neuroendocrine carcinoma", "MONDO:0016979": "MRCS syndrome", "MONDO:0016980": "ATR-X-related syndrome", "MONDO:0016981": "infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome", "MONDO:0016982": "angiosarcoma (disease)", "MONDO:0016983": "Bartter syndrome with hypocalcemia", "MONDO:0016984": "nevus of Ota", "MONDO:0016985": "nevus of Ito", "MONDO:0016986": "congenital smooth muscle hamartoma", "MONDO:0016987": "neuroacanthocytosis", "MONDO:0016988": "hyperinsulinism due to HNF4A deficiency", "MONDO:0016989": "Fuchs heterochromic iridocyclitis", "MONDO:0016990": "acquired prothrombin deficiency", "MONDO:0016991": "acute necrotizing encephalopathy of childhood", "MONDO:0016993": "generalized peeling skin syndrome type C", "MONDO:0016994": "microcephalic osteodysplastic primordial dwarfism types I and III", "MONDO:0016995": "familial multiple meningioma", "MONDO:0016996": "NK-cell enteropathy", "MONDO:0016997": "hereditary epidermolysis bullosa associated with ocular features", "MONDO:0016998": "complex chromosomal rearrangement", "MONDO:0016999": "X chromosome number anomaly", "MONDO:0017000": "X chromosome number anomaly with female phenotype", "MONDO:0017001": "X chromosome number anomaly with male phenotype", "MONDO:0017002": "polysomy of X chromosome", "MONDO:0017003": "partial deletion of chromosome X", "MONDO:0017004": "partial monosomy of the short arm of chromosome X", "MONDO:0017005": "Y chromosome number anomaly", "MONDO:0017006": "X and Y chromosomal anomaly", "MONDO:0017007": "partial deletion of the long arm of chromosome X", "MONDO:0017008": "partial duplication of chromosome X", "MONDO:0017009": "partial duplication of the short arm of chromosome X", "MONDO:0017010": "partial duplication of the long arm of chromosome X", "MONDO:0017011": "uniparental disomy of chromosome X", "MONDO:0017012": "partial duplication of the short arm of chromosome 1", "MONDO:0017013": "trisomy 8p", "MONDO:0017014": "interstitial lung disease specific to childhood", "MONDO:0017015": "primary interstitial lung disease specific to childhood", "MONDO:0017016": "primary interstitial lung disease specific to childhood due to alveolar structure disorder", "MONDO:0017017": "primary interstitial lung disease specific to childhood due to alveolar vascular disorder", "MONDO:0017018": "isolated pulmonary capillaritis", "MONDO:0017019": "interstitial lung disease specific to infancy", "MONDO:0017020": "secondary interstitial lung disease specific to childhood associated with a systemic disease", "MONDO:0017021": "secondary interstitial lung disease specific to childhood associated with a connective tissue disease", "MONDO:0017022": "secondary interstitial lung disease specific to childhood associated with a systemic vasculitis", "MONDO:0017023": "secondary interstitial lung disease specific to childhood associated with a granulomatous disease", "MONDO:0017024": "secondary interstitial lung disease specific to childhood associated with a metabolic disease", "MONDO:0017025": "Langerhans cell histiocytosis specific to childhood", "MONDO:0017026": "interstitial lung disease specific to adulthood", "MONDO:0017027": "primary interstitial lung disease specific to adulthood", "MONDO:0017028": "secondary interstitial lung disease specific to adulthood associated with a systemic disease", "MONDO:0017029": "Langerhans cell histiocytosis specific to adulthood", "MONDO:0017030": "interstitial lung disease in childhood and adulthood", "MONDO:0017031": "primary interstitial lung disease in childhood and adulthood", "MONDO:0017032": "primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder", "MONDO:0017033": "primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder", "MONDO:0017034": "secondary interstitial lung disease in childhood and adulthood", "MONDO:0017035": "secondary interstitial lung disease in childhood and adulthood associated with a systemic disease", "MONDO:0017036": "Langerhans cell histiocytosis in childhood and adulthood", "MONDO:0017037": "secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease", "MONDO:0017038": "secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis", "MONDO:0017039": "drug or radiation exposure-related interstitial lung disease", "MONDO:0017040": "exposure-related interstitial lung disease", "MONDO:0017041": "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome", "MONDO:0017042": "thanatophoric dysplasia", "MONDO:0017043": "congenital mesoblastic nephroma", "MONDO:0017044": "adult familial nephronophthisis-spastic quadriparesia syndrome", "MONDO:0017045": "neuroectodermal-endocrine syndrome", "MONDO:0017046": "neuroepithelioma", "MONDO:0017047": "infantile axonal neuropathy", "MONDO:0017048": "pseudomyxoma peritonei", "MONDO:0017049": "hypomyelination neuropathy-arthrogryposis syndrome", "MONDO:0017050": "intraocular medulloepithelioma", "MONDO:0017051": "classic maple syrup urine disease", "MONDO:0017052": "intermediate maple syrup urine disease", "MONDO:0017053": "intermittent maple syrup urine disease", "MONDO:0017054": "thiamine-responsive maple syrup urine disease", "MONDO:0017055": "mycophenolate mofetil embryopathy", "MONDO:0017056": "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion", "MONDO:0017057": "hereditary thrombocytopenia with normal platelets", "MONDO:0017058": "autosomal recessive intermediate Charcot-Marie-Tooth disease", "MONDO:0017059": "neural tube closure defect", "MONDO:0017060": "open iniencephaly", "MONDO:0017061": "closed iniencephaly", "MONDO:0017062": "spina bifida aperta", "MONDO:0017063": "total spina bifida aperta", "MONDO:0017064": "thoracolumbosacral spina bifida aperta", "MONDO:0017065": "lumbosacral spina bifida aperta", "MONDO:0017066": "cervical spina bifida aperta", "MONDO:0017067": "cervicothoracic spina bifida aperta", "MONDO:0017068": "upper thoracic spina bifida aperta", "MONDO:0017069": "spina bifida cystica", "MONDO:0017070": "total spina bifida cystica", "MONDO:0017071": "thoracolumbosacral spina bifida cystica", "MONDO:0017072": "lumbosacral spina bifida cystica", "MONDO:0017073": "cervical spina bifida cystica", "MONDO:0017074": "cervicothoracic spina bifida cystica", "MONDO:0017075": "upper thoracic spina bifida cystica", "MONDO:0017076": "posterior meningocele", "MONDO:0017077": "myelocystocele", "MONDO:0017078": "cephalocele (disease)", "MONDO:0017079": "meningoencephalocele", "MONDO:0017080": "occipital encephalocele", "MONDO:0017081": "parietal encephalocele", "MONDO:0017082": "basal encephalocele", "MONDO:0017083": "lipoma associated with neurospinal dysraphism", "MONDO:0017084": "leptomyelolipoma", "MONDO:0017085": "malformation of the neurenteric canal, spinal cord and column", "MONDO:0017086": "primary tethered cord syndrome", "MONDO:0017087": "neurenteric cyst", "MONDO:0017088": "isolated amyelia", "MONDO:0017089": "isolated megalencephaly", "MONDO:0017090": "midline cerebral malformation", "MONDO:0017091": "bilateral polymicrogyria", "MONDO:0017092": "unilateral polymicrogyria", "MONDO:0017093": "unilateral focal polymicrogyria", "MONDO:0017094": "cerebral cortical dysplasia", "MONDO:0017095": "isolated focal cortical dysplasia type I", "MONDO:0017096": "isolated focal cortical dysplasia type Ia", "MONDO:0017097": "isolated focal cortical dysplasia type Ib", "MONDO:0017098": "isolated focal cortical dysplasia type Ic", "MONDO:0017100": "neutropenia-monocytopenia-deafness syndrome", "MONDO:0017101": "isolated focal cortical dysplasia type IIa", "MONDO:0017102": "isolated focal cortical dysplasia type IIb", "MONDO:0017103": "encephaloclastic disorder", "MONDO:0017104": "central nervous system cystic malformation", "MONDO:0017105": "glioependymal/ependymal cyst", "MONDO:0017106": "retrocerebellar cyst (disease)", "MONDO:0017107": "isolated cerebellar vermis agenesis", "MONDO:0017108": "isolated total cerebellar vermis agenesis", "MONDO:0017109": "isolated partial cerebellar vermis agenesis", "MONDO:0017110": "isolated Dandy-Walker malformation with hydrocephalus", "MONDO:0017111": "isolated Dandy-Walker malformation without hydrocephalus", "MONDO:0017112": "isolated unilateral hemispheric cerebellar hypoplasia", "MONDO:0017113": "isolated bilateral hemispheric cerebellar hypoplasia", "MONDO:0017114": "global cerebellar malformation", "MONDO:0017116": "congenital communicating hydrocephalus", "MONDO:0017117": "congenital non-communicating hydrocephalus", "MONDO:0017118": "syndrome with a cerebellar malformation as major feature", "MONDO:0017119": "syndrome with microcephaly as major feature", "MONDO:0017120": "other syndrome with a central nervous system malformation as major feature", "MONDO:0017121": "syndrome with a Dandy-Walker malformation as major feature", "MONDO:0017122": "genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature", "MONDO:0017123": "arthrogryposis-renal dysfunction-cholestasis syndrome", "MONDO:0017124": "noma", "MONDO:0017126": "oculo-skeletal-renal syndrome", "MONDO:0017127": "inherited soft tissue tumor", "MONDO:0017128": "inherited digestive tract tumor", "MONDO:0017129": "inherited cardiac tumor", "MONDO:0017130": "obsolete genetic urogenital tumor", "MONDO:0017131": "genetic cardiac anomaly", "MONDO:0017134": "odonto-onycho dysplasia-alopecia syndrome", "MONDO:0017135": "olivopontocerebellar atrophy-deafness syndrome", "MONDO:0017136": "omodysplasia", "MONDO:0017137": "onchocerciasis", "MONDO:0017138": "Opitz G/BBB syndrome", "MONDO:0017139": "oromandibular-limb hypogenesis syndrome", "MONDO:0017140": "L1 syndrome", "MONDO:0017141": "rare hemorrhagic disorder due to a constitutional thrombocytopenia", "MONDO:0017142": "rare hemorrhagic disorder due to a qualitative platelet defect", "MONDO:0017143": "genetic infertility", "MONDO:0017144": "alpha-thalassemia and related diseases", "MONDO:0017145": "beta-thalassemia and related diseases", "MONDO:0017146": "sickle cell disease and related diseases", "MONDO:0017147": "idiopathic pulmonary arterial hypertension", "MONDO:0017148": "heritable pulmonary arterial hypertension", "MONDO:0017149": "drug- or toxin-induced pulmonary arterial hypertension", "MONDO:0017150": "pulmonary arterial hypertension associated with another disease", "MONDO:0017151": "pulmonary arterial hypertension associated with connective tissue disease", "MONDO:0017152": "pulmonary arterial hypertension associated with congenital heart disease", "MONDO:0017153": "pulmonary arterial hypertension associated with HIV infection", "MONDO:0017154": "pulmonary arterial hypertension associated with portal hypertension", "MONDO:0017155": "pulmonary arterial hypertension associated with schistosomiasis", "MONDO:0017156": "pulmonary arterial hypertension associated with chronic hemolytic anemia", "MONDO:0017157": "pulmonary hypertension owing to lung disease and/or hypoxia", "MONDO:0017158": "pulmonary hypertension with unclear multifactorial mechanism", "MONDO:0017159": "syndrome with pulmonary hypertension as a major feature", "MONDO:0017160": "behavioral variant of frontotemporal dementia", "MONDO:0017161": "frontotemporal dementia with motor neuron disease", "MONDO:0017162": "imperforate oropharynx-costo vetebral anomalies syndrome", "MONDO:0017163": "hemolytic disease due to fetomaternal alloimmunization", "MONDO:0017164": "hemolytic disease of the newborn with Kell alloimmunization", "MONDO:0017165": "bile acid CoA ligase deficiency and defective amidation", "MONDO:0017166": "rare tumor of salivary glands", "MONDO:0017167": "malignant epithelial tumor of salivary glands", "MONDO:0017168": "benign epithelial tumor of salivary glands", "MONDO:0017169": "multiple endocrine neoplasia", "MONDO:0017170": "idiopathic recurrent stupor", "MONDO:0017171": "mucopolysaccharidosis type 6, rapidly progressing", "MONDO:0017172": "mucopolysaccharidosis type 6, slowly progressing", "MONDO:0017173": "non-syndromic male infertility due to sperm motility disorder", "MONDO:0017174": "Machado-Joseph disease type 1", "MONDO:0017175": "Machado-Joseph disease type 2", "MONDO:0017176": "Machado-Joseph disease type 3", "MONDO:0017177": "hemihyperplasia-multiple lipomatosis syndrome", "MONDO:0017178": "osteochondritis dissecans (disease)", "MONDO:0017179": "limbic encephalitis with caspr2 antibodies", "MONDO:0017180": "10q22.3q23.3 microduplication syndrome", "MONDO:0017181": "hypnic headache (disease)", "MONDO:0017182": "familial hyperinsulinism", "MONDO:0017183": "hyperinsulinism due to UCP2 deficiency", "MONDO:0017184": "autosomal dominant hyperinsulinism due to SUR1 deficiency", "MONDO:0017185": "autosomal dominant hyperinsulinism due to Kir6.2 deficiency", "MONDO:0017186": "diazoxide-resistant hyperinsulinism", "MONDO:0017187": "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency", "MONDO:0017188": "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency", "MONDO:0017189": "adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia", "MONDO:0017190": "sporadic pheochromocytoma/secreting paraganglioma", "MONDO:0017191": "sporadic pheochromocytoma", "MONDO:0017192": "sporadic secreting paraganglioma", "MONDO:0017193": "symptomatic form of Coffin-Lowry syndrome in female carriers", "MONDO:0017194": "Blount disease", "MONDO:0017195": "Bruck syndrome", "MONDO:0017196": "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome", "MONDO:0017197": "osteopathia striata-pigmentary dermopathy-white forelock syndrome", "MONDO:0017198": "osteopetrosis (disease)", "MONDO:0017199": "osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome", "MONDO:0017200": "polycystic ovaries-urethral sphincter dysfunction syndrome", "MONDO:0017201": "Spasmus nutans (disease)", "MONDO:0017202": "acute endophthalmitis", "MONDO:0017203": "chronic endophthalmitis", "MONDO:0017204": "toxic maculopathy due to antimalarial drugs", "MONDO:0017205": "primary oculocerebral lymphoma", "MONDO:0017207": "primary organ-specific lymphoma", "MONDO:0017209": "infectious posterior uveitis", "MONDO:0017210": "infectious anterior uveitis", "MONDO:0017211": "infectious panuveitis", "MONDO:0017212": "paraneoplastic uveitis", "MONDO:0017213": "postorgasmic illness syndrome", "MONDO:0017214": "vitamin B12-responsive methylmalonic acidemia", "MONDO:0017215": "calciphylaxis", "MONDO:0017216": "calciphylaxis cutis", "MONDO:0017217": "visceral calciphylaxis", "MONDO:0017218": "septopreoptic holoprosencephaly", "MONDO:0017219": "microform holoprosencephaly", "MONDO:0017220": "laryngotracheoesophageal cleft type 0", "MONDO:0017221": "Pelizaeus-Merzbacher disease, connatal form", "MONDO:0017222": "Pelizaeus-Merzbacher disease, classic form", "MONDO:0017223": "Pelizaeus-Merzbacher disease, transitional form", "MONDO:0017224": "Pelizaeus-Merzbacher disease in female carriers", "MONDO:0017225": "null syndrome", "MONDO:0017226": "Pelizaeus-Merzbacher-like disease", "MONDO:0017227": "autoimmune pancreatitis type 1", "MONDO:0017228": "autoimmune pancreatitis type 2", "MONDO:0017229": "distal monosomy 12p", "MONDO:0017230": "autosomal semi-dominant severe lipodystrophic laminopathy", "MONDO:0017231": "erythropoietic uroporphyria associated with myeloid malignancy", "MONDO:0017232": "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome", "MONDO:0017233": "familial Alzheimer-like prion disease", "MONDO:0017234": "inherited prion disease", "MONDO:0017235": "familial omphalocele syndrome with facial dysmorphism", "MONDO:0017236": "rapidly progressive glomerulonephritis", "MONDO:0017237": "hereditary sensorimotor neuropathy with hyperelastic skin", "MONDO:0017238": "hemoglobinopathy Toms River", "MONDO:0017239": "familial progressive hyper- and hypopigmentation", "MONDO:0017240": "acrodysostosis with multiple hormone resistance", "MONDO:0017241": "severe intellectual disability and progressive spastic paraplegia", "MONDO:0017242": "cutaneous collagenous vasculopathy", "MONDO:0017243": "bullous diffuse cutaneous mastocytosis", "MONDO:0017244": "pseudoxanthomatous diffuse cutaneous mastocytosis", "MONDO:0017245": "intralobar congenital pulmonary sequestration", "MONDO:0017246": "extralobar congenital pulmonary sequestration", "MONDO:0017247": "communicating congenital bronchopulmonary-foregut malformation", "MONDO:0017248": "congenital pulmonary airway malformation type 0", "MONDO:0017249": "congenital pulmonary airway malformation type 1", "MONDO:0017250": "congenital pulmonary airway malformation type 2", "MONDO:0017251": "congenital pulmonary airway malformation type 3", "MONDO:0017252": "congenital pulmonary airway malformation type 4", "MONDO:0017255": "panuveitis (disease)", "MONDO:0017256": "idiopathic anterior uveitis", "MONDO:0017257": "idiopathic posterior uveitis", "MONDO:0017258": "idiopathic panuveitis", "MONDO:0017259": "systemic diseases with anterior uveitis", "MONDO:0017260": "systemic diseases with posterior uveitis", "MONDO:0017261": "systemic diseases with panuveitis", "MONDO:0017262": "inherited non-syndromic ichthyosis", "MONDO:0017263": "inherited ichthyosis syndromic form", "MONDO:0017264": "syndromic recessive X-linked ichthyosis", "MONDO:0017265": "autosomal recessive congenital ichthyosis", "MONDO:0017266": "keratinopathic ichthyosis", "MONDO:0017267": "self-healing collodion baby", "MONDO:0017268": "acral self-healing collodion baby", "MONDO:0017269": "X-linked ichthyosis syndrome", "MONDO:0017270": "autosomal ichthyosis syndrome", "MONDO:0017271": "autosomal ichthyosis syndrome with prominent hair abnormalities", "MONDO:0017272": "autosomal ichthyosis syndrome with prominent neurologics signs", "MONDO:0017273": "autosomal ichthyosis syndrome with fatal disease course", "MONDO:0017275": "spastic paraplegia-facial-cutaneous lesions syndrome", "MONDO:0017276": "frontotemporal dementia", "MONDO:0017277": "partial deletion of chromosome 12", "MONDO:0017278": "autoimmune polyendocrinopathy", "MONDO:0017279": "young-onset Parkinson disease", "MONDO:0017280": "demodicidosis", "MONDO:0017281": "renal caliceal diverticuli-deafness syndrome", "MONDO:0017282": "alveolar echinococcosis", "MONDO:0017283": "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion", "MONDO:0017284": "Xp22.13p22.2 duplication syndrome", "MONDO:0017285": "penoscrotal transposition (disease)", "MONDO:0017286": "tempi syndrome", "MONDO:0017287": "IgG4-related disease", "MONDO:0017289": "fetal lung interstitial tumor", "MONDO:0017290": "familial intrahepatic cholestasis", "MONDO:0017291": "reversible cerebral vasoconstriction syndrome", "MONDO:0017292": "well-differentiated fetal adenocarcinoma of the lung", "MONDO:0017294": "glycerol kinase deficiency, infantile form", "MONDO:0017295": "glycerol kinase deficiency, juvenile form", "MONDO:0017296": "glycerol kinase deficiency, adult form", "MONDO:0017297": "CLIPPERS", "MONDO:0017298": "acute zonal occult outer retinopathy", "MONDO:0017299": "acute annular outer retinopathy", "MONDO:0017300": "congenital pericardium anomaly", "MONDO:0017301": "pericardial and diaphragmatic defect", "MONDO:0017302": "qualitative or quantitative defects of troponin", "MONDO:0017303": "qualitative or quantitative defects of tropomyosin", "MONDO:0017304": "ocular albinism (disease)", "MONDO:0017305": "syndromic oculocutaneous albinism", "MONDO:0017306": "disorder of phenylalanine metabolism", "MONDO:0017307": "disorder of tyrosine metabolism", "MONDO:0017308": "obsolete Marfan syndrome type 2", "MONDO:0017309": "neonatal Marfan syndrome", "MONDO:0017310": "Marfan and Marfan-related disorder", "MONDO:0017311": "rare disease with thoracic aortic aneurysm and aortic dissection", "MONDO:0017312": "Perrault syndrome", "MONDO:0017313": "disorder of folate metabolism and transport", "MONDO:0017314": "Ehlers-Danlos syndrome, vascular type", "MONDO:0017315": "short stature-webbed neck-heart disease syndrome", "MONDO:0017316": "short stature-deafness-neutrophil dysfunction-dysmorphism syndrome", "MONDO:0017317": "phakomatosis pigmentokeratotica", "MONDO:0017318": "phakomatosis pigmentovascularis", "MONDO:0017319": "hereditary elliptocytosis", "MONDO:0017320": "phosphoenolpyruvate carboxykinase deficiency", "MONDO:0017321": "pili torti-onychodysplasia syndrome", "MONDO:0017322": "disorders of vitamin D metabolism", "MONDO:0017323": "hypocalcemic rickets", "MONDO:0017324": "autosomal recessive hypophosphatemic rickets", "MONDO:0017325": "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation", "MONDO:0017326": "infective dermatitis associated with HTLV-1", "MONDO:0017327": "primary non-gestational choriocarcinoma of ovary", "MONDO:0017328": "non-central nervous system-localized embryonal carcinoma", "MONDO:0017329": "familial vesicoureteral reflux", "MONDO:0017330": "malignancy diagnosed during pregnancy", "MONDO:0017331": "Pilotto syndrome", "MONDO:0017332": "pyoderma gangrenosum-acne-suppurative hidradenitis syndrome", "MONDO:0017334": "12q15q21.1 microdeletion syndrome", "MONDO:0017335": "microtriplication 11q24.1", "MONDO:0017336": "fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency", "MONDO:0017337": "inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency", "MONDO:0017338": "fatal multiple mitochondrial dysfunctions syndrome", "MONDO:0017339": "exfoliative ichthyosis", "MONDO:0017340": "juvenile nasopharyngeal angiofibroma (disease)", "MONDO:0017341": "virus associated tumor", "MONDO:0017342": "Epstein-Barr virus-related tumor", "MONDO:0017343": "Epstein-Barr virus-associated malignant lymphoproliferative disorder", "MONDO:0017344": "Epstein-Barr virus-associated carcinoma", "MONDO:0017345": "Epstein-Barr virus-associated mesenchymal tumor", "MONDO:0017346": "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly", "MONDO:0017347": "plasmablastic lymphoma", "MONDO:0017348": "lymphoepithelial-like carcinoma", "MONDO:0017349": "myopericytoma", "MONDO:0017350": "inborn disorder of tryptophan metabolism", "MONDO:0017351": "inborn disorder of lysine and hydroxylysine metabolism", "MONDO:0017352": "disorder of glutamine metabolism", "MONDO:0017353": "neonatal glycine encephalopathy", "MONDO:0017354": "infantile glycine encephalopathy", "MONDO:0017355": "inborn disorder of proline metabolism", "MONDO:0017356": "inborn disorder of ornithine metabolism", "MONDO:0017357": "transient hyperammonemia of the newborn", "MONDO:0017359": "3-methylglutaconic aciduria", "MONDO:0017360": "vitamin B12-unresponsive methylmalonic acidemia type mut0", "MONDO:0017361": "congenital rubella syndrome", "MONDO:0017362": "neuralgic amyotrophy", "MONDO:0017363": "idiopathic chronic eosinophilic pneumonia", "MONDO:0017364": "POEMS syndrome", "MONDO:0017365": "hereditary acrokeratotic poikiloderma, Weary type", "MONDO:0017366": "hereditary pheochromocytoma-paraganglioma", "MONDO:0017368": "systemic disease with skin involvement", "MONDO:0017369": "autoinflammatory syndrome with immune deficiency", "MONDO:0017370": "autoinflammatory syndrome with skin involvement", "MONDO:0017371": "obsolete rare head and neck tumor", "MONDO:0017372": "congenital varicella syndrome", "MONDO:0017373": "poliomyelitis", "MONDO:0017375": "congenital enterovirus infection", "MONDO:0017376": "reactive arthritis", "MONDO:0017377": "preaxial polydactyly-colobomata-intellectual disability syndrome", "MONDO:0017378": "polymicrogyria-turricephaly-hypogenitalism syndrome", "MONDO:0017379": "polyneuropathy-intellectual disability-acromicria-premature menopause syndrome", "MONDO:0017380": "juvenile polyposis syndrome", "MONDO:0017381": "congenital herpes simplex virus infection", "MONDO:0017382": "familial clubfoot due to 5q31 microdeletion", "MONDO:0017383": "familial clubfoot due to PITX1 point mutation", "MONDO:0017384": "acute generalized exanthematous pustulosis", "MONDO:0017385": "malignant migrating partial seizures of infancy", "MONDO:0017386": "pleomorphic rhabdomyosarcoma", "MONDO:0017387": "epithelioid sarcoma", "MONDO:0017388": "celiac trunk compression syndrome", "MONDO:0017389": "tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria", "MONDO:0017390": "methylmalonic acidemia without homocystinuria", "MONDO:0017391": "Grayson-Wilbrandt corneal dystrophy", "MONDO:0017392": "pre-descemet corneal dystrophy", "MONDO:0017393": "blepharophimosis - intellectual disability syndrome", "MONDO:0017394": "ketamine-induced biliary dilatation", "MONDO:0017395": "fixed pigmented erythema", "MONDO:0017396": "toxic dermatosis", "MONDO:0017397": "constitutional dyserythropoietic anemia", "MONDO:0017398": "3MC syndrome", "MONDO:0017399": "frontotemporal dementia, right temporal atrophy variant", "MONDO:0017400": "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome", "MONDO:0017401": "familial isolated arrhythmogenic ventricular dysplasia, left dominant form", "MONDO:0017402": "familial isolated arrhythmogenic ventricular dysplasia, biventricular form", "MONDO:0017403": "familial isolated arrhythmogenic ventricular dysplasia, right dominant form", "MONDO:0017404": "distal Xq28 microduplication syndrome", "MONDO:0017405": "1p21.3 microdeletion syndrome", "MONDO:0017406": "hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome", "MONDO:0017407": "deficiency in anterior pituitary function - variable immunodeficiency syndrome", "MONDO:0017408": "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome", "MONDO:0017409": "fetal cytomegalovirus syndrome", "MONDO:0017410": "porencephaly", "MONDO:0017411": "neonatal inflammatory skin and bowel disease", "MONDO:0017413": "Reunion island Larsen syndrome", "MONDO:0017414": "obsolete rare nevus", "MONDO:0017415": "multiple pterygium syndrome", "MONDO:0017416": "postpoliomyelitis syndrome", "MONDO:0017417": "renal-hepatic-pancreatic dysplasia", "MONDO:0017418": "chronic intestinal failure", "MONDO:0017419": "non-syndromic amelia", "MONDO:0017420": "intercalary limb defects", "MONDO:0017421": "non-syndromic terminal limb defects", "MONDO:0017422": "adactyly of hand", "MONDO:0017423": "split hand or/and split foot malformation", "MONDO:0017424": "non-syndromic brachydactyly", "MONDO:0017425": "Preaxial polydactyly of fingers", "MONDO:0017426": "postaxial polydactyly of fingers", "MONDO:0017427": "congenital deformities of limbs", "MONDO:0017428": "congenital deformities of fingers", "MONDO:0017429": "joint formation defects", "MONDO:0017430": "non-syndromic congenital joint dislocations", "MONDO:0017431": "non-syndromic limb overgrowth", "MONDO:0017432": "syndrome with limb reduction defects", "MONDO:0017433": "dysostosis with combined reduction defects of upper and lower limbs", "MONDO:0017434": "syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy", "MONDO:0017435": "popliteal pterygium syndrome", "MONDO:0017436": "lethal congenital contracture syndrome", "MONDO:0017437": "amelia of upper limb", "MONDO:0017438": "amelia of lower limb", "MONDO:0017439": "tetra-amelia", "MONDO:0017440": "humeral agenesis/hypoplasia", "MONDO:0017441": "congenital absence of upper arm and forearm with hand present", "MONDO:0017442": "congenital absence of thigh and lower leg with foot present", "MONDO:0017443": "congenital absence of both forearm and hand", "MONDO:0017444": "congenital absence of both lower leg and foot", "MONDO:0017445": "acheiria", "MONDO:0017446": "apodia", "MONDO:0017447": "congenital absence/hypoplasia of thumb", "MONDO:0017448": "congenital absence/hypoplasia of fingers excluding thumb", "MONDO:0017449": "split hand (disease)", "MONDO:0017450": "split foot (disease)", "MONDO:0017451": "non-syndromic brachydactyly of fingers", "MONDO:0017452": "non-syndromic brachydactyly of toes", "MONDO:0017453": "fetal parvovirus syndrome", "MONDO:0017454": "triphalangeal thumb-polysyndactyly syndrome", "MONDO:0017455": "hyperphalangy", "MONDO:0017456": "central polydactyly of fingers", "MONDO:0017457": "Preaxial polydactyly of toes", "MONDO:0017458": "postaxial polydactyly of toes", "MONDO:0017459": "central polydactyly of toes", "MONDO:0017460": "syndactyly type 6", "MONDO:0017461": "familial isolated clinodactyly of fingers", "MONDO:0017462": "congenital pseudoarthrosis of the tibia", "MONDO:0017463": "congenital pseudoarthrosis of the femur", "MONDO:0017464": "congenital pseudoarthrosis of the fibula", "MONDO:0017465": "congenital pseudoarthrosis of the radius", "MONDO:0017466": "congenital pseudoarthrosis of the ulna", "MONDO:0017467": "tibio-fibular synostosis", "MONDO:0017468": "congenital shoulder dislocation", "MONDO:0017469": "congenital elbow dislocation", "MONDO:0017470": "congenital knee dislocation (disease)", "MONDO:0017471": "congenital patella dislocation", "MONDO:0017472": "patella aplasia/hypoplasia, unilateral", "MONDO:0017473": "patella aplasia/hypoplasia, bilateral", "MONDO:0017474": "macrodactyly of fingers", "MONDO:0017475": "macrodactyly of toes", "MONDO:0017476": "upper limb hypertrophy", "MONDO:0017477": "lower limb hypertrophy", "MONDO:0017478": "amelia of upper limb, unilateral", "MONDO:0017479": "amelia of upper limb, bilateral", "MONDO:0017480": "amelia of lower limb, unilateral", "MONDO:0017481": "amelia of lower limb, bilateral", "MONDO:0017482": "humeral agenesis/hypoplasia, unilateral", "MONDO:0017483": "humeral agenesis/hypoplasia, bilateral", "MONDO:0017484": "femoral agenesis/hypoplasia, unilateral", "MONDO:0017485": "femoral agenesis/hypoplasia, bilateral", "MONDO:0017486": "radial hemimelia, unilateral", "MONDO:0017487": "radial hemimelia, bilateral", "MONDO:0017488": "ulnar hemimelia, bilateral", "MONDO:0017489": "ulnar hemimelia, unilateral", "MONDO:0017490": "tibial hemimelia, unilateral", "MONDO:0017491": "tibial hemimelia, bilateral", "MONDO:0017492": "fibular hemimelia, unilateral", "MONDO:0017493": "fibular hemimelia, bilateral", "MONDO:0017494": "congenital absence of upper arm and forearm with hand present, unilateral", "MONDO:0017495": "congenital absence of upper arm and forearm with hand present, bilateral", "MONDO:0017496": "congenital absence of thigh and lower leg with foot present, unilateral", "MONDO:0017497": "congenital absence of thigh and lower leg with foot present, bilateral", "MONDO:0017498": "congenital absence of both forearm and hand, unilateral", "MONDO:0017499": "congenital absence of both forearm and hand, bilateral", "MONDO:0017500": "congenital absence of both lower leg and foot, unilateral", "MONDO:0017501": "congenital absence of both lower leg and foot, bilateral", "MONDO:0017502": "acheiria, unilateral", "MONDO:0017503": "acheiria, bilateral", "MONDO:0017504": "apodia, unilateral", "MONDO:0017505": "apodia, bilateral", "MONDO:0017506": "congenital absence/hypoplasia of thumb, unilateral", "MONDO:0017507": "congenital absence/hypoplasia of thumb, bilateral", "MONDO:0017508": "congenital absence/hypoplasia of fingers excluding thumb, bilateral", "MONDO:0017509": "adactyly of foot, unilateral", "MONDO:0017510": "adactyly of foot, bilateral", "MONDO:0017511": "split hand, unilateral", "MONDO:0017512": "split hand, bilateral", "MONDO:0017513": "split foot, unilateral", "MONDO:0017514": "split foot, bilateral", "MONDO:0017515": "brachydactyly of fingers, unilateral", "MONDO:0017516": "brachydactyly of fingers, bilateral", "MONDO:0017517": "brachydactyly of toes, unilateral", "MONDO:0017518": "brachydactyly of toes, bilateral", "MONDO:0017519": "symbrachydactyly of hand and foot, unilateral", "MONDO:0017520": "symbrachydactyly of hand and foot, bilateral", "MONDO:0017521": "hyperphalangy, unilateral", "MONDO:0017522": "hyperphalangy, bilateral", "MONDO:0017523": "polydactyly of a biphalangeal thumb, unilateral", "MONDO:0017524": "polydactyly of a biphalangeal thumb, bilateral", "MONDO:0017525": "polydactyly of a triphalangeal thumb, unilateral", "MONDO:0017526": "polydactyly of a triphalangeal thumb, bilateral", "MONDO:0017527": "polydactyly of an index finger, unilateral", "MONDO:0017528": "polydactyly of an index finger, bilateral", "MONDO:0017529": "polysyndactyly, unilateral", "MONDO:0017530": "polysyndactyly, bilateral", "MONDO:0017531": "postaxial polydactyly type A, unilateral", "MONDO:0017532": "postaxial polydactyly type A, bilateral", "MONDO:0017533": "postaxial polydactyly type B, unilateral", "MONDO:0017534": "postaxial polydactyly type B, bilateral", "MONDO:0017535": "central polydactyly of fingers, unilateral", "MONDO:0017536": "central polydactyly of fingers, bilateral", "MONDO:0017537": "Preaxial polydactyly of toes, unilateral", "MONDO:0017538": "Preaxial polydactyly of toes, bilateral", "MONDO:0017539": "postaxial polydactyly of toes, unilateral", "MONDO:0017540": "postaxial polydactyly of toes, bilateral", "MONDO:0017541": "central polydactyly of toes, unilateral", "MONDO:0017542": "central polydactyly of toes, bilateral", "MONDO:0017543": "zygodactyly type 2", "MONDO:0017544": "zygodactyly type 3", "MONDO:0017545": "zygodactyly type 4", "MONDO:0017546": "congenital vertical talus, unilateral", "MONDO:0017547": "congenital vertical talus, bilateral", "MONDO:0017548": "humero-radio-ulnar synostosis, unilateral", "MONDO:0017549": "humero-radio-ulnar synostosis, bilateral", "MONDO:0017550": "humero-radial synostosis, unilateral", "MONDO:0017551": "humero-radial synostosis, bilateral", "MONDO:0017552": "humero-ulnar synostosis, unilateral", "MONDO:0017553": "humero-ulnar synostosis, bilateral", "MONDO:0017554": "radio-ulnar synostosis, unilateral", "MONDO:0017555": "radio-ulnar synostosis, bilateral", "MONDO:0017556": "Madelung deformity, unilateral", "MONDO:0017557": "Madelung deformity, bilateral", "MONDO:0017558": "congenital elbow dislocation, unilateral", "MONDO:0017559": "congenital elbow dislocation, bilateral", "MONDO:0017560": "congenital genu recurvatum", "MONDO:0017561": "congenital genu flexum", "MONDO:0017562": "congenital patella dislocation, unilateral", "MONDO:0017563": "congenital patella dislocation, bilateral", "MONDO:0017564": "macrodactyly of fingers, unilateral", "MONDO:0017565": "macrodactyly of fingers, bilateral", "MONDO:0017566": "macrodactyly of toes, unilateral", "MONDO:0017567": "macrodactyly of toes, bilateral", "MONDO:0017568": "Prata-Liberal-Goncalves syndrome", "MONDO:0017569": "de Barsy syndrome", "MONDO:0017570": "leukocyte adhesion deficiency", "MONDO:0017571": "Proteus-like syndrome", "MONDO:0017572": "tick-borne encephalitis", "MONDO:0017573": "46,XX disorder of sex development-anorectal anomalies syndrome", "MONDO:0017574": "chronic intestinal pseudoobstruction", "MONDO:0017575": "mitochondrial neurogastrointestinal encephalomyopathy", "MONDO:0017576": "46,XX disorder of sex development", "MONDO:0017577": "spontaneous periodic hypothermia", "MONDO:0017578": "disorder of thiamine metabolism and transport", "MONDO:0017579": "Baraitser-Winter cerebrofrontofacial syndrome", "MONDO:0017580": "11p15.4 microduplication syndrome", "MONDO:0017581": "familial infantile gigantism", "MONDO:0017582": "pituitary adenocarcinoma (disease)", "MONDO:0017583": "mirror polydactyly-vertebral segmentation-limbs defects syndrome", "MONDO:0017584": "Sagliker syndrome", "MONDO:0017585": "painful orbital and systemic neurofibromas-marfanoid habitus syndrome", "MONDO:0017586": "onychocytic matricoma", "MONDO:0017587": "onychomatricoma", "MONDO:0017588": "nail tumor", "MONDO:0017589": "follicular cholangitis and pancreatitis", "MONDO:0017590": "carcinoma of the ampulla of vater", "MONDO:0017591": "combined pulmonary fibrosis-emphysema syndrome", "MONDO:0017592": "staphylococcal toxemia", "MONDO:0017593": "juvenile amyotrophic lateral sclerosis", "MONDO:0017594": "indolent B-cell non-Hodgkin lymphoma", "MONDO:0017595": "aggressive B-cell non-Hodgkin lymphoma", "MONDO:0017596": "diffuse large B-cell lymphoma of the central nervous system", "MONDO:0017597": "T-cell/histiocyte rich large B cell lymphoma", "MONDO:0017598": "primary cutaneous anaplastic large cell lymphoma", "MONDO:0017599": "splenic diffuse red pulp small B-cell lymphoma", "MONDO:0017600": "hairy cell leukemia variant", "MONDO:0017601": "diffuse large B-cell lymphoma with chronic inflammation", "MONDO:0017602": "ALK-positive anaplastic large cell lymphoma", "MONDO:0017603": "ALK-negative anaplastic large cell lymphoma", "MONDO:0017604": "marginal zone lymphoma", "MONDO:0017607": "caudal regression sequence", "MONDO:0017609": "renal tubular dysgenesis", "MONDO:0017610": "epidermolysis bullosa simplex", "MONDO:0017611": "pituitary tumor", "MONDO:0017612": "junctional epidermolysis bullosa", "MONDO:0017613": "intellectual disability-hypotonia-skin hyperpigmentation syndrome", "MONDO:0017614": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome", "MONDO:0017615": "benign familial infantile epilepsy", "MONDO:0017616": "X-linked intellectual disability, Schutz type", "MONDO:0017617": "acquired adult-onset immunodeficiency", "MONDO:0017618": "congenital sucrase-isomaltase deficiency with starch intolerance", "MONDO:0017619": "congenital sucrase-isomaltase deficiency with minimal starch tolerance", "MONDO:0017620": "congenital sucrase-isomaltase deficiency without starch intolerance", "MONDO:0017621": "congenital sucrase-isomaltase deficiency with starch and lactose intolerance", "MONDO:0017622": "congenital sucrase-isomaltase deficiency without sucrose intolerance", "MONDO:0017623": "PTEN hamartoma tumor syndrome", "MONDO:0017624": "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis", "MONDO:0017625": "familial primary hypomagnesemia with hypocalcuria", "MONDO:0017626": "familial primary hypomagnesemia with normocalcuria", "MONDO:0017627": "congenital hereditary facial paralysis-variable hearing loss syndrome", "MONDO:0017628": "myospherulosis", "MONDO:0017629": "sodium channelopathy-related small fiber neuropathy", "MONDO:0017630": "X-linked complicated spastic paraplegia type 1", "MONDO:0017631": "rare tumor of gallbladder and extrahepatic biliary tract", "MONDO:0017632": "obsolete rare tumor of liver and intrahepatic biliary tract", "MONDO:0017633": "rare intoxication due to medical products", "MONDO:0017634": "non-infectious anterior uveitis", "MONDO:0017635": "parkinsonian syndrome due to neurodegenerative disease", "MONDO:0017636": "hemiparkinsonism-hemiatrophy syndrome", "MONDO:0017637": "rare parkinsonian syndrome due to intoxication", "MONDO:0017638": "manganese poisoning", "MONDO:0017639": "carbon monoxide-induced parkinsonism", "MONDO:0017640": "cyanide-induced parkinsonism", "MONDO:0017641": "miscellaneous movement disorder due to neurodegenerative disease", "MONDO:0017642": "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome", "MONDO:0017643": "frontotemporal neurodegeneration with movement disorder", "MONDO:0017644": "obsolete rare tremor disorder", "MONDO:0017645": "obsolete rare choreic movement disorder", "MONDO:0017646": "neurodegenerative disease with chorea", "MONDO:0017647": "postinfectious autoimmune disease with chorea", "MONDO:0017648": "Sydenham chorea", "MONDO:0017649": "hemidystonia-hemiatrophy syndrome", "MONDO:0017650": "obsolete rare myoclonus", "MONDO:0017651": "primary myoclonus", "MONDO:0017652": "rare disease with myoclonus as a major feature", "MONDO:0017653": "epilepsy and/or ataxia with myoclonus as major feature", "MONDO:0017654": "non progressive epilepsy and/or ataxia with myoclonus as a major feature", "MONDO:0017655": "progressive epilepsy and/or ataxia with myoclonus as a major feature", "MONDO:0017656": "motor stereotypies", "MONDO:0017657": "rare paroxysmal movement disorder", "MONDO:0017658": "hyperekplexia", "MONDO:0017659": "sporadic hyperekplexia", "MONDO:0017660": "obsolete rare genetic parkinsonian disorder", "MONDO:0017661": "rare parkinsonian syndrome due to genetic neurodegenerative disease", "MONDO:0017662": "miscellaneous movement disorder due to genetic neurodegenerative disease", "MONDO:0017663": "inherited tremor disorder", "MONDO:0017665": "rare genetic disease with myoclonus as a major feature", "MONDO:0017666": "diffuse palmoplantar keratoderma", "MONDO:0017667": "isolated diffuse palmoplantar keratoderma", "MONDO:0017668": "intellectual disability-short stature-hypertelorism syndrome", "MONDO:0017669": "disease with diffuse palmoplantar keratoderma as a major feature", "MONDO:0017670": "autosomal dominant diffuse mutilating palmoplantar keratoderma", "MONDO:0017671": "autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature", "MONDO:0017672": "focal palmoplantar keratoderma", "MONDO:0017673": "isolated focal palmoplantar keratoderma", "MONDO:0017674": "disease with focal palmoplantar keratoderma as a major feature", "MONDO:0017675": "punctate palmoplantar keratoderma", "MONDO:0017676": "marginal papular palmoplantar keratoderma", "MONDO:0017677": "focal acral hyperkeratosis", "MONDO:0017678": "disease with punctate palmoplantar keratoderma as a major feature", "MONDO:0017679": "autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature", "MONDO:0017680": "autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature", "MONDO:0017682": "intellectual disability-polydactyly-uncombable hair syndrome", "MONDO:0017683": "methylcobalamin deficiency type cblDv1", "MONDO:0017684": "disorder of beta and omega amino acid metabolism", "MONDO:0017685": "vitamin B12-responsive methylmalonic acidemia, type cblDv2", "MONDO:0017686": "inborn aminoacylase deficiency", "MONDO:0017687": "disorder of neutral amino acid transport", "MONDO:0017688": "disorder of glycolysis", "MONDO:0017689": "disorder of fructose metabolism", "MONDO:0017690": "disorder of galactose metabolism", "MONDO:0017691": "erythrocyte galactose epimerase deficiency", "MONDO:0017692": "generalized galactose epimerase deficiency", "MONDO:0017693": "glycogen storage disease due to glycogen synthase deficiency", "MONDO:0017694": "glycogen storage disease due to acid maltase deficiency, infantile onset", "MONDO:0017695": "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form", "MONDO:0017696": "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form", "MONDO:0017697": "glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form", "MONDO:0017698": "glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form", "MONDO:0017699": "glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form", "MONDO:0017700": "glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form", "MONDO:0017701": "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form", "MONDO:0017703": "disorder of glyoxylate metabolism", "MONDO:0017704": "familial partial epilepsy", "MONDO:0017705": "congenital pulmonary venous return anomaly", "MONDO:0017706": "disorder of carbohydrate absorption and transport", "MONDO:0017708": "mevalonate kinase deficiency", "MONDO:0017709": "disorder of lipid absorption and transport", "MONDO:0017710": "congenital systemic veins anomaly", "MONDO:0017711": "pancreatic colipase deficiency", "MONDO:0017712": "combined pancreatic lipase-colipase deficiency", "MONDO:0017713": "disorder of fatty acid oxidation and ketogenesis", "MONDO:0017714": "acyl-CoA dehydrogenase deficiency", "MONDO:0017715": "3-hydroxyacyl-CoA dehydrogenase deficiency", "MONDO:0017716": "disorder of carnitine cycle and carnitine transport", "MONDO:0017717": "metabolic disease due to other fatty acid oxidation disorder", "MONDO:0017718": "mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes", "MONDO:0017719": "gangliosidosis", "MONDO:0017720": "GM2 gangliosidosis", "MONDO:0017721": "Sandhoff disease, infantile form", "MONDO:0017722": "Sandhoff disease, juvenile form", "MONDO:0017723": "Sandhoff disease, adult form", "MONDO:0017724": "Tay-Sachs disease, b variant, infantile form", "MONDO:0017725": "Tay-Sachs disease, b variant, juvenile form", "MONDO:0017726": "Tay-Sachs disease, b variant, adult form", "MONDO:0017727": "fixed subaortic stenosis", "MONDO:0017728": "Tay-Sachs disease, B1 variant", "MONDO:0017729": "metachromatic leukodystrophy, late infantile form", "MONDO:0017730": "metachromatic leukodystrophy, adult form", "MONDO:0017731": "glycoproteinosis", "MONDO:0017732": "alpha-mannosidosis, infantile form", "MONDO:0017733": "alpha-mannosidosis, adult form", "MONDO:0017734": "sialidosis", "MONDO:0017735": "congenital aortic valve stenosis", "MONDO:0017736": "disorder of sialic acid metabolism", "MONDO:0017737": "intermediate severe Salla disease", "MONDO:0017738": "lysosomal glycogen storage disease", "MONDO:0017739": "disorder of lysosomal-related organelles", "MONDO:0017740": "disorder of protein N-glycosylation", "MONDO:0017741": "disorder of protein O-glycosylation", "MONDO:0017742": "disorder of O-xylosylglycan synthesis", "MONDO:0017743": "disorder of O-N-acetylgalactosaminylglycan synthesis", "MONDO:0017744": "disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis", "MONDO:0017745": "disorder of O-mannosylglycan synthesis", "MONDO:0017746": "atypical Rett syndrome", "MONDO:0017747": "disorder of fucoglycosan synthesis", "MONDO:0017748": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation", "MONDO:0017749": "disorder of multiple glycosylation", "MONDO:0017750": "defect in conserved oligomeric Golgi complex", "MONDO:0017752": "defect in V-ATPase", "MONDO:0017753": "disorder of peroxisomal alpha-, beta- and omega-oxidation", "MONDO:0017754": "inborn disorder of porphyrin metabolism", "MONDO:0017755": "inborn disorder of bilirubin metabolism", "MONDO:0017756": "disorder of pterin metabolism", "MONDO:0017757": "disorder of metabolite absorption and transport", "MONDO:0017758": "disorder of vitamin and non-protein cofactor absorption and transport", "MONDO:0017759": "disorder of catecholamine synthesis", "MONDO:0017760": "disorder of other vitamins and cofactors metabolism and transport", "MONDO:0017761": "disorder of mineral absorption and transport", "MONDO:0017762": "disorder of copper metabolism", "MONDO:0017763": "disorder of iron metabolism and transport", "MONDO:0017764": "disorder of zinc metabolism", "MONDO:0017765": "disorder of magnesium transport", "MONDO:0017766": "disorder of manganese transport", "MONDO:0017767": "rheumatic fever", "MONDO:0017768": "reflex epilepsy", "MONDO:0017769": "acquired immunodeficiency", "MONDO:0017770": "Robinow-like syndrome", "MONDO:0017771": "Mayer-Rokitansky-Kuster-Hauser syndrome", "MONDO:0017772": "oral erosive lichen", "MONDO:0017773": "hypoalphalipoproteinemia", "MONDO:0017774": "hypobetalipoproteinemia", "MONDO:0017775": "melioidosis", "MONDO:0017776": "nocardiosis", "MONDO:0017778": "lamellar ichthyosis", "MONDO:0017779": "alpha-N-acetylgalactosaminidase deficiency", "MONDO:0017780": "20p13 microdeletion syndrome", "MONDO:0017781": "12p12.1 microdeletion syndrome", "MONDO:0017782": "developmental and speech delay due to SOX5 deficiency", "MONDO:0017783": "congenital pancreatic cyst", "MONDO:0017784": "Epstein-Barr virus-associated gastric carcinoma", "MONDO:0017785": "PENS syndrome", "MONDO:0017786": "2q23.1 microduplication syndrome", "MONDO:0017787": "erythroderma desquamativum", "MONDO:0017788": "contractures - webbed neck - micrognathia - hypoplastic nipples syndrome", "MONDO:0017789": "idiopathic linear interstitial keratitis", "MONDO:0017790": "gastric adenocarcinoma and proximal polyposis of the stomach", "MONDO:0017791": "high bone mass osteogenesis imperfecta", "MONDO:0017792": "7p22.1 microduplication syndrome", "MONDO:0017793": "marfanoid habitus-inguinal hernia-advanced bone age syndrome", "MONDO:0017794": "Xq12-q13.3 duplication syndrome", "MONDO:0017795": "ameloblastoma", "MONDO:0017797": "obsolete rare odontologic tumor", "MONDO:0017798": "Spigelian hernia-cryptorchidism syndrome", "MONDO:0017799": "Meigs syndrome", "MONDO:0017800": "pseudo-Meigs syndrome", "MONDO:0017801": "atypical Meigs syndrome", "MONDO:0017802": "ovarian fibrothecoma", "MONDO:0017803": "primary progressive apraxia of speech", "MONDO:0017804": "autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome", "MONDO:0017805": "intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome", "MONDO:0017806": "15q overgrowth syndrome", "MONDO:0017807": "growing teratoma syndrome", "MONDO:0017808": "duplication of the pituitary gland", "MONDO:0017809": "parkinsonism due to ATP13A2 deficiency", "MONDO:0017810": "variant ABeta2M amyloidosis", "MONDO:0017811": "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion", "MONDO:0017812": "segmental progressive overgrowth syndrome with fibroadipose hyperplasia", "MONDO:0017813": "van Maldergem syndrome", "MONDO:0017814": "primary bone lymphoma", "MONDO:0017815": "acquired porencephaly", "MONDO:0017816": "primary systemic amyloidosis", "MONDO:0017817": "primary localized amyloidosis", "MONDO:0017818": "lethal arteriopathy syndrome due to fibulin-4 deficiency", "MONDO:0017819": "atypical dentin dysplasia due to SMOC2 deficiency", "MONDO:0017820": "disease with Cushing syndrome as a major feature", "MONDO:0017822": "mixed functioning pituitary adenoma", "MONDO:0017823": "somatomammotropinoma", "MONDO:0017824": "familial isolated pituitary adenoma", "MONDO:0017825": "silent pituitary adenoma", "MONDO:0017826": "null pituitary adenoma", "MONDO:0017827": "malignant peripheral nerve sheath tumor", "MONDO:0017828": "primary renal tubular acidosis", "MONDO:0017829": "autosomal dominant proximal renal tubular acidosis", "MONDO:0017830": "severe Canavan disease", "MONDO:0017831": "mild Canavan disease", "MONDO:0017832": "mycobacterium xenopi infection", "MONDO:0017833": "primary hypereosinophilic syndrome", "MONDO:0017834": "secondary hypereosinophilic syndrome", "MONDO:0017835": "lymphocytic hypereosinophilic syndrome", "MONDO:0017836": "erythrokeratoderma en cocardes", "MONDO:0017837": "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome", "MONDO:0017838": "sclerosteosis", "MONDO:0017839": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form", "MONDO:0017840": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form", "MONDO:0017841": "autoimmune disease with skin involvement", "MONDO:0017842": "Senior-Loken syndrome", "MONDO:0017843": "congenital pulmonary sequestration", "MONDO:0017844": "Sezary syndrome", "MONDO:0017845": "spastic ataxia", "MONDO:0017846": "autosomal dominant spastic ataxia", "MONDO:0017847": "autosomal recessive spastic ataxia", "MONDO:0017849": "Siegler-Brewer-Carey syndrome", "MONDO:0017850": "sirenomelia", "MONDO:0017851": "erythrokeratodermia variabilis", "MONDO:0017852": "infantile spasms-broad thumbs syndrome", "MONDO:0017853": "hypersensitivity pneumonitis", "MONDO:0017855": "T-B- severe combined immunodeficiency", "MONDO:0017856": "X-linked spasticity-intellectual disability-epilepsy syndrome", "MONDO:0017857": "spina bifida-hypospadias syndrome", "MONDO:0017858": "acute erythroid leukemia", "MONDO:0017859": "colchicine poisoning", "MONDO:0017860": "methanol poisoning", "MONDO:0017861": "ethylene glycol poisoning", "MONDO:0017862": "paraquat poisoning", "MONDO:0017863": "digitalis poisoning", "MONDO:0017864": "congenital pulmonary veins atresia or stenosis", "MONDO:0017865": "congenital pulmonary valve stenosis", "MONDO:0017866": "subpulmonary stenosis", "MONDO:0017867": "distal 17p13.1 microdeletion syndrome", "MONDO:0017868": "diencephalic-mesencephalic junction dysplasia", "MONDO:0017869": "chondroectodermal dysplasia with night blindness", "MONDO:0017870": "supravalvular pulmonary stenosis", "MONDO:0017871": "bilateral massive adrenal hemorrhage", "MONDO:0017872": "Lujo hemorrhagic fever", "MONDO:0017874": "Argentine hemorrhagic fever", "MONDO:0017875": "Bolivian hemorrhagic fever", "MONDO:0017876": "Venezuelan hemorrhagic fever", "MONDO:0017877": "Brazilian hemorrhagic fever", "MONDO:0017878": "Chapare hemorrhagic fever", "MONDO:0017879": "hantavirus pulmonary syndrome", "MONDO:0017880": "Rift valley fever", "MONDO:0017881": "Kyasanur forest disease", "MONDO:0017882": "Omsk hemorrhagic fever", "MONDO:0017884": "papillary renal cell carcinoma", "MONDO:0017885": "chromophobe renal cell carcinoma", "MONDO:0017886": "MIT family translocation renal cell carcinoma", "MONDO:0017887": "renal cell carcinoma associated with neuroblastoma", "MONDO:0017890": "tubulocystic renal cell carcinoma", "MONDO:0017891": "inherited renal cancer-predisposing syndrome", "MONDO:0017892": "autosomal recessive myogenic arthrogryposis multiplex congenita", "MONDO:0017893": "inherited acute myeloid leukemia", "MONDO:0017894": "acute myeloid leukemia with CEBPA somatic mutations", "MONDO:0017895": "familial papillary or follicular thyroid carcinoma", "MONDO:0017896": "familial nonmedullary thyroid carcinoma", "MONDO:0017897": "obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "MONDO:0017898": "obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "MONDO:0017899": "obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "MONDO:0017900": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency", "MONDO:0017901": "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency", "MONDO:0017902": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "MONDO:0017903": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency", "MONDO:0017904": "steroid dehydrogenase deficiency-dental anomalies syndrome", "MONDO:0017905": "X-linked Mendelian susceptibility to mycobacterial diseases", "MONDO:0017906": "amyloidosis cutis dyschromia", "MONDO:0017907": "primary lymphoma of the conjunctiva", "MONDO:0017909": "inherited glutathione synthetase deficiency", "MONDO:0017910": "dehydrated hereditary stomatocytosis", "MONDO:0017912": "X-linked pure spastic paraplegia", "MONDO:0017913": "pure or complex hereditary spastic paraplegia", "MONDO:0017914": "pure or complex autosomal dominant spastic paraplegia", "MONDO:0017915": "pure or complex autosomal recessive spastic paraplegia", "MONDO:0017916": "pure or complex X-linked spastic paraplegia", "MONDO:0017917": "maternally-inherited spastic paraplegia", "MONDO:0017918": "white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome", "MONDO:0017919": "bladder exstrophy-epispadias-cloacal exstrophy complex", "MONDO:0017920": "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome", "MONDO:0017921": "hearing loss-familial salivary gland insensitivity to aldosterone syndrome", "MONDO:0017922": "deafness-onychodystrophy syndrome", "MONDO:0017923": "multiple synostoses syndrome", "MONDO:0017924": "central nervous system calcification-deafness-tubular acidosis-anemia syndrome", "MONDO:0017925": "T-cell immunodeficiency with epidermodysplasia verruciformis", "MONDO:0017926": "multiple paragangliomas associated with polycythemia", "MONDO:0017927": "severe lateral tibial bowing with short stature", "MONDO:0017928": "9p13 microdeletion syndrome", "MONDO:0017929": "congenital achiasma", "MONDO:0017930": "mixed sclerosing bone dystrophy with extra-skeletal manifestations", "MONDO:0017931": "hereditary inclusion body myopathy type 4", "MONDO:0017932": "muscular hypertrophy-hepatomegaly-polyhydramnios syndrome", "MONDO:0017933": "hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation", "MONDO:0017934": "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome", "MONDO:0017935": "hyperinsulinism due to HNF1A deficiency", "MONDO:0017936": "benign Samaritan congenital myopathy", "MONDO:0017937": "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain", "MONDO:0017939": "classic multiminicore myopathy", "MONDO:0017940": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation", "MONDO:0017941": "chikungunya", "MONDO:0017942": "Hendra virus infection", "MONDO:0017943": "autoerythrocyte sensitization syndrome", "MONDO:0017944": "invasive non-typhoidal salmonellosis", "MONDO:0017945": "ABetaL34V amyloidosis", "MONDO:0017946": "ABeta amyloidosis, Iowa type", "MONDO:0017947": "ABeta amyloidosis, Italian type", "MONDO:0017948": "ABetaA21G amyloidosis", "MONDO:0017949": "ABeta amyloidosis, Arctic type", "MONDO:0017950": "microcephalic primordial dwarfism", "MONDO:0017951": "trichorhinophalangeal syndrome", "MONDO:0017952": "non-familial rare disease with dilated cardiomyopathy", "MONDO:0017953": "hereditary periodic fever syndrome", "MONDO:0017954": "pyogenic autoinflammatory syndrome", "MONDO:0017955": "granulomatous autoinflammatory syndrome", "MONDO:0017956": "mixed autoinflammatory and autoimmune syndrome", "MONDO:0017957": "unclassified autoinflammatory syndrome", "MONDO:0017958": "magic syndrome", "MONDO:0017961": "46,XX disorder of gonadal development", "MONDO:0017962": "46,XX disorder of sex development induced by fetoplacental androgens excess", "MONDO:0017963": "46,XX disorder of sex development induced by endogenous maternal-derived androgen", "MONDO:0017964": "46,XX disorder of sex development induced by exogenous maternal-derived androgen", "MONDO:0017965": "syndrome with 46,XX disorder of sex development", "MONDO:0017966": "46,XY disorder of gonadal development", "MONDO:0017967": "testicular agenesis", "MONDO:0017968": "46,XY ovotesticular disorder of sex development", "MONDO:0017969": "46,XY disorder of sex development of endocrine origin", "MONDO:0017970": "46,XY disorder of sex development due to impaired androgen production", "MONDO:0017971": "46,XY disorder of sex development due to a cholesterol synthesis defect", "MONDO:0017972": "classic congenital lipoid adrenal hyperplasia due to STAR deficency", "MONDO:0017973": "non-classic congenital lipoid adrenal hyperplasia due to STAR deficency", "MONDO:0017974": "46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors", "MONDO:0017975": "sex chromosome disorder of sex development", "MONDO:0017976": "disorder of sex development of gynecological interest", "MONDO:0017977": "46,XY disorder of sex development of gynecological interest", "MONDO:0017978": "syndrome with disorder of sex development of gynecological interest", "MONDO:0017979": "autoimmune lymphoproliferative syndrome", "MONDO:0017980": "syngnathia multiple anomalies", "MONDO:0017981": "syngnathia-cleft palate syndrome", "MONDO:0017983": "humero-radio-ulnar synostosis", "MONDO:0017984": "familial lambdoid synostosis", "MONDO:0017985": "congenital radioulnar synostosis", "MONDO:0017986": "disorder of plasmalogens biosynthesis", "MONDO:0017987": "syringomyelia", "MONDO:0017988": "multifocal atrial tachycardia (disease)", "MONDO:0017989": "His bundle tachycardia", "MONDO:0017990": "catecholaminergic polymorphic ventricular tachycardia", "MONDO:0017991": "Takayasu arteritis", "MONDO:0017992": "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis", "MONDO:0017993": "cerebral sinovenous thrombosis", "MONDO:0017994": "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency", "MONDO:0017995": "spondylocostal dysostosis-hypospadias-intellectual disability syndrome", "MONDO:0017996": "blepharophimosis - intellectual disability syndrome due to UBE3B deficiency", "MONDO:0017997": "telecanthus-hypertelorism-strabismus-pes cavus syndrome", "MONDO:0017998": "PLA2G6-associated neurodegeneration", "MONDO:0017999": "fatty acid hydroxylase-associated neurodegeneration", "MONDO:0018000": "hereditary thrombocytosis with transverse limb defect", "MONDO:0018001": "inverse Klippel-Trenaunay syndrome", "MONDO:0018002": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy", "MONDO:0018003": "limbic encephalitis with DPP6 antibodies", "MONDO:0018004": "acute megakaryoblastic leukemia without down syndrome", "MONDO:0018005": "spastic paraplegia-Paget disease of bone syndrome", "MONDO:0018006": "adult-onset distal myopathy due to VCP mutation", "MONDO:0018007": "mosaic genome-wide paternal uniparental disomy", "MONDO:0018008": "idiopathic giant cell myocarditis", "MONDO:0018009": "non-hypoproteinemic hypertrophic gastropathy", "MONDO:0018010": "juvenile idiopathic inflammatory myopathy", "MONDO:0018011": "juvenile overlap myositis", "MONDO:0018013": "non-immunoglobulin-mediated membranoproliferative glomerulonephritis", "MONDO:0018014": "transient neonatal multiple acyl-CoA dehydrogenase deficiency", "MONDO:0018015": "intermittent hydrarthrosis", "MONDO:0018016": "classic neuroendocrine tumor of appendix", "MONDO:0018017": "goblet cell carcinoma", "MONDO:0018018": "wild type ATTR amyloidosis", "MONDO:0018019": "Lead poisoning", "MONDO:0018020": "mercury poisoning", "MONDO:0018021": "hypotrichosis-deafness syndrome", "MONDO:0018022": "hemoglobin Lepore-beta-thalassemia syndrome", "MONDO:0018023": "hemoglobin M disease", "MONDO:0018024": "hydroa vacciniforme", "MONDO:0018025": "chronic actinic dermatitis", "MONDO:0018026": "tetraploidy syndrome", "MONDO:0018027": "duplication/inversion 15q11", "MONDO:0018028": "tetrasomy 5p", "MONDO:0018029": "congenital factor XIII deficiency", "MONDO:0018030": "tetrasomy 9p", "MONDO:0018031": "granulomatous slack skin disease", "MONDO:0018032": "constitutional neutropenia with extra-hematopoietic manifestations", "MONDO:0018033": "other immunodeficiency syndromes due to defects in innate immunity", "MONDO:0018034": "thalidomide embryopathy", "MONDO:0018035": "syndrome with combined immunodeficiency", "MONDO:0018036": "immunodeficiency due to absence of thymus", "MONDO:0018037": "hyper-IgE syndrome", "MONDO:0018038": "immunodeficiency with isotype or light chain deficiencies with normal number of B-cells", "MONDO:0018039": "selective IgM deficiency", "MONDO:0018040": "immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells", "MONDO:0018041": "other immunodeficiency syndrome with predominantly antibody defects", "MONDO:0018042": "immunodeficiency syndrome with abnormal pigmentation", "MONDO:0018043": "Thomas syndrome", "MONDO:0018044": "idiopathic hypersomnia", "MONDO:0018045": "Hoyeraal-Hreidarsson syndrome", "MONDO:0018046": "thrombocytopenia-robin sequence syndrome", "MONDO:0018047": "familial thrombomodulin anomalies", "MONDO:0018048": "heparin-induced thrombocytopenia (disease)", "MONDO:0018050": "tibial aplasia-ectrodactyly syndrome", "MONDO:0018051": "Jessner lymphocytic infiltration of the skin", "MONDO:0018053": "trichothiodystrophy", "MONDO:0018054": "familial atrial fibrillation", "MONDO:0018055": "pediatric hepatocellular carcinoma", "MONDO:0018056": "bullous lichen planus", "MONDO:0018058": "tracheal agenesis", "MONDO:0018059": "meningococcal meningitis", "MONDO:0018060": "congenital fibrinogen deficiency", "MONDO:0018061": "trichodermodysplasia-dental alterations syndrome", "MONDO:0018062": "autosomal dominant trichoodontoonychodysplasia-syndactyly", "MONDO:0018063": "nodular non-suppurative panniculitis", "MONDO:0018064": "trigonocephaly-broad thumbs syndrome", "MONDO:0018065": "isolated trigonocephaly", "MONDO:0018066": "trisomy X", "MONDO:0018067": "triploidy", "MONDO:0018068": "trisomy 13", "MONDO:0018069": "distal trisomy 17q", "MONDO:0018070": "familial multiple fibrofolliculoma", "MONDO:0018071": "trisomy 18", "MONDO:0018072": "persistent truncus arteriosus", "MONDO:0018075": "neural tube defect", "MONDO:0018076": "tuberculosis", "MONDO:0018077": "tularemia", "MONDO:0018078": "soft tissue sarcoma", "MONDO:0018079": "thymic epithelial neoplasm", "MONDO:0018080": "obsolete rare germ cell tumor", "MONDO:0018081": "hemorrhagic fever-renal syndrome", "MONDO:0018082": "aorto-ventricular tunnel (disease)", "MONDO:0018083": "transient tyrosinemia of the newborn", "MONDO:0018084": "Uhl anomaly", "MONDO:0018085": "umbilical cord ulceration-intestinal atresia syndrome", "MONDO:0018086": "ulerythema ophryogenesis", "MONDO:0018087": "viral hemorrhagic fever", "MONDO:0018088": "familial Mediterranean fever", "MONDO:0018089": "double outlet right ventricle", "MONDO:0018090": "double outlet left ventricle (disease)", "MONDO:0018091": "microcephaly-brachydactyly-kyphoscoliosis syndrome", "MONDO:0018092": "Vogt-Koyanagi-Harada disease", "MONDO:0018093": "arbovirus fever", "MONDO:0018094": "Waardenburg syndrome", "MONDO:0018095": "Weaver-Williams syndrome", "MONDO:0018096": "Weill-Marchesani syndrome", "MONDO:0018097": "West syndrome", "MONDO:0018098": "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)", "MONDO:0018100": "familial primary hypomagnesemia", "MONDO:0018101": "familial primary hypomagnesemia with normocalciuria and normocalcemia", "MONDO:0018102": "corneal dystrophy (disease)", "MONDO:0018103": "Quinquaud's folliculitis decalvans", "MONDO:0018104": "Torg-Winchester syndrome", "MONDO:0018105": "Wolfram syndrome", "MONDO:0018106": "hereditary xanthinuria", "MONDO:0018107": "idiopathic recurrent and disabling cutaneous herpes", "MONDO:0018108": "idiopathic disseminated cytomegalovirus infection", "MONDO:0018109": "fulminant viral hepatitis", "MONDO:0018110": "lethal idiopathic viral infection", "MONDO:0018111": "idiopathic severe pneumococcemia", "MONDO:0018112": "isolated scaphocephaly", "MONDO:0018113": "isolated plagiocephaly", "MONDO:0018114": "isolated brachycephaly", "MONDO:0018115": "epidermal nevus syndrome", "MONDO:0018116": "galactosemia", "MONDO:0018117": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis", "MONDO:0018118": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement", "MONDO:0018119": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement", "MONDO:0018120": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement", "MONDO:0018121": "mitochondrial DNA maintenance syndrome", "MONDO:0018122": "digital anomalies-intellectual disability-short stature syndrome", "MONDO:0018123": "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome", "MONDO:0018124": "Oncogenic osteomalacia", "MONDO:0018125": "focal epilepsy-intellectual disability-cerebro-cerebellar malformation", "MONDO:0018126": "progressive myoclonic epilepsy with dystonia", "MONDO:0018127": "16q24.1 microdeletion syndrome", "MONDO:0018128": "phalangeal microgeodic syndrome", "MONDO:0018129": "autosomal recessive cerebellar ataxia with late-onset spasticity", "MONDO:0018130": "brain dopamine-serotonin vesicular transport disease", "MONDO:0018131": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion", "MONDO:0018132": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "MONDO:0018133": "attenuated Chédiak-Higashi syndrome", "MONDO:0018134": "disorder of melanin metabolism", "MONDO:0018135": "oculocutaneous albinism type 1", "MONDO:0018136": "minimal pigment oculocutaneous albinism type 1", "MONDO:0018137": "temperature-sensitive oculocutaneous albinism type 1", "MONDO:0018138": "ocular albinism with congenital sensorineural deafness", "MONDO:0018141": "pyruvate carboxylase deficiency, infantile form", "MONDO:0018142": "pyruvate carboxylase deficiency, severe neonatal type", "MONDO:0018143": "pyruvate carboxylase deficiency, benign type", "MONDO:0018144": "congenital myasthenic syndromes with glycosylation defect", "MONDO:0018145": "congenital retinal arteriovenous communication", "MONDO:0018146": "idiopathic macular telangiectasia type 1", "MONDO:0018147": "idiopathic macular telangiectasia type 3", "MONDO:0018148": "vasoproliferative tumor of retina", "MONDO:0018149": "GM1 gangliosidosis", "MONDO:0018150": "Gaucher disease", "MONDO:0018151": "coenzyme Q10 deficiency", "MONDO:0018152": "serpiginous choroiditis", "MONDO:0018153": "Erdheim-Chester disease", "MONDO:0018154": "Madelung deformity", "MONDO:0018155": "lateral sclerosis", "MONDO:0018156": "3q26q27 microdeletion syndrome", "MONDO:0018157": "mitochondrial disorder due to a defect in mitochondrial protein synthesis", "MONDO:0018158": "mitochondrial DNA depletion syndrome", "MONDO:0018159": "atypical hemolytic-uremic syndrome with DGKE deficiency", "MONDO:0018160": "hereditary retinoblastoma", "MONDO:0018161": "non-hereditary retinoblastoma", "MONDO:0018162": "neurometabolic disorder due to serine deficiency", "MONDO:0018163": "autosomal recessive cutis laxa type 2A", "MONDO:0018164": "arterial thoracic outlet syndrome", "MONDO:0018165": "venous thoracic outlet syndrome", "MONDO:0018166": "oral submucous fibrosis", "MONDO:0018167": "primary essential cutis verticis gyrata", "MONDO:0018168": "primary non-essential cutis verticis gyrata", "MONDO:0018169": "morning glory syndrome", "MONDO:0018170": "idiopathic nephrotic syndrome", "MONDO:0018171": "malignant germ cell tumor of ovary", "MONDO:0018172": "malignant sex cord stromal tumor of ovary", "MONDO:0018173": "acute opioid poisoning", "MONDO:0018174": "hereditary glaucoma", "MONDO:0018175": "combined deficiency of factor V and factor VIII", "MONDO:0018177": "glioblastoma (disease)", "MONDO:0018178": "intestinal lymphangiectasia (disease)", "MONDO:0018180": "staphylococcal scarlet fever", "MONDO:0018181": "staphylococcal scalded skin syndrome", "MONDO:0018182": "bullous impetigo", "MONDO:0018183": "staphylococcal necrotizing pneumonia", "MONDO:0018184": "gastric linitis plastica", "MONDO:0018185": "congenital anomaly of the great veins", "MONDO:0018186": "ring chromosome", "MONDO:0018187": "genetic syndromic Pierre Robin syndrome", "MONDO:0018188": "genetic intestinal polyposis", "MONDO:0018189": "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome", "MONDO:0018190": "autosomal dominant childhood-onset proximal spinal muscular atrophy", "MONDO:0018191": "tumor of testis and paratestis", "MONDO:0018192": "paratesticular adenocarcinoma", "MONDO:0018193": "testicular teratoma", "MONDO:0018197": "mitochondrial DNA depletion syndrome, hepatocerebrorenal form", "MONDO:0018198": "acute encephalopathy with biphasic seizures and late reduced diffusion", "MONDO:0018199": "new-onset refractory status epilepticus", "MONDO:0018200": "acute encephalopathy with inflammation-mediated status epilepticus", "MONDO:0018201": "extragonadal germ cell tumor", "MONDO:0018202": "gonadal germ cell tumor", "MONDO:0018203": "LMNA-related cardiocutaneous progeria syndrome", "MONDO:0018204": "20q11.2 microduplication syndrome", "MONDO:0018205": "distal monosomy 1q", "MONDO:0018206": "childhood-onset autosomal recessive myopathy with external ophthalmoplegia", "MONDO:0018207": "2p13.2 microdeletion syndrome", "MONDO:0018208": "neurofibromatosis type 1 due to NF1 mutation or intragenic deletion", "MONDO:0018209": "Alexander disease type I", "MONDO:0018210": "Alexander disease type II", "MONDO:0018211": "Balint syndrome", "MONDO:0018212": "familial cervical artery dissection", "MONDO:0018213": "hereditary sensory and autonomic neuropathy type 1", "MONDO:0018214": "generalized epilepsy with febrile seizures plus", "MONDO:0018215": "paraneoplastic neurologic syndrome", "MONDO:0018216": "17q21.31 microdeletion syndrome", "MONDO:0018217": "Koolen-de Vries syndrome due to a point mutation", "MONDO:0018218": "autosomal recessive cerebral atrophy", "MONDO:0018221": "immune hydrops fetalis", "MONDO:0018222": "X-linked intellectual disability due to GRIA3 anomalies", "MONDO:0018223": "systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood", "MONDO:0018224": "hydroa vacciniforme-like lymphoma", "MONDO:0018225": "ALK-positive large B-cell lymphoma", "MONDO:0018226": "infantile epileptic-dyskinetic encephalopathy", "MONDO:0018227": "hypocomplementemic urticarial vasculitis", "MONDO:0018228": "bipartite talus", "MONDO:0018229": "Stevens-Johnson syndrome", "MONDO:0018230": "primary bone dysplasia", "MONDO:0018231": "primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments", "MONDO:0018232": "primary bone dysplasia with micromelia", "MONDO:0018233": "otopalatodigital syndrome spectrum disorder", "MONDO:0018234": "dysostosis", "MONDO:0018235": "dysostosis with limb anomaly as a major feature", "MONDO:0018236": "dysostosis with limb and face anomalies as a major feature", "MONDO:0018237": "acrofacial dysostosis", "MONDO:0018239": "aggrecan-related bone disorder", "MONDO:0018240": "TRPV4-related bone disorder", "MONDO:0018241": "primary short bowel syndrome", "MONDO:0018242": "autoimmune hypoparathyroidism (disease)", "MONDO:0018243": "intellectual disability-hyperkinetic movement-truncal ataxia syndrome", "MONDO:0018244": "obesity due to SIM1 deficiency", "MONDO:0018245": "2p21 microdeletion syndrome without cystinuria", "MONDO:0018246": "homozygous 2p21 microdeletion syndrome", "MONDO:0018247": "CADDS", "MONDO:0018248": "intellectual disability-seizures-macrocephaly-obesity syndrome", "MONDO:0018249": "finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome", "MONDO:0018250": "diffuse palmoplantar keratoderma with painful fissures", "MONDO:0018252": "focal palmoplantar keratoderma with joint keratoses", "MONDO:0018253": "intellectual disability-facial dysmorphism-hand anomalies syndrome", "MONDO:0018254": "spondyloepimetaphyseal dysplasia, Isidor type", "MONDO:0018255": "spondylometaphyseal dysplasia, Czarny-Ratajczak type", "MONDO:0018256": "acute myeloid leukemia with t(8;16)(p11;p13) translocation", "MONDO:0018257": "familial syringomyelia", "MONDO:0018258": "Angora hair nevus", "MONDO:0018259": "didymosis aplasticosebacea", "MONDO:0018260": "scalp syndrome", "MONDO:0018261": "Nevada syndrome", "MONDO:0018262": "fetal anticonvulsant syndrome", "MONDO:0018263": "fetal carbamazepine syndrome", "MONDO:0018264": "oculocutaneous albinism type 6", "MONDO:0018265": "rare disorder with dystonia and other neurologic or systemic manifestation", "MONDO:0018266": "ataxia - telangiectasia variant", "MONDO:0018267": "combined cervical dystonia", "MONDO:0018268": "Medich giant platelet syndrome", "MONDO:0018269": "white platelet syndrome", "MONDO:0018270": "extraskeletal Ewing sarcoma", "MONDO:0018271": "peripheral primitive neuroectodermal tumor", "MONDO:0018273": "XYLT1-CDG", "MONDO:0018274": "GM3 synthase deficiency", "MONDO:0018276": "muscular dystrophy-dystroglycanopathy", "MONDO:0018277": "congenital muscular dystrophy with cerebellar involvement", "MONDO:0018278": "congenital muscular dystrophy with intellectual disability", "MONDO:0018280": "muscle-eye-brain disease with bilateral multicystic leucodystrophy", "MONDO:0018281": "congenital muscular dystrophy with hyperlaxity", "MONDO:0018282": "qualitative or quantitative defects of alpha-dystroglycan", "MONDO:0018283": "primary qualitative or quantitative defects of alpha-dystroglycan", "MONDO:0018284": "congenital disorder of glycosylation with neurological involvement", "MONDO:0018285": "X-linked congenital disorder of glycosylation with intellectual disability as a major feature", "MONDO:0018286": "non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature", "MONDO:0018287": "congenital disorder of glycosylation with epilepsy as a major feature", "MONDO:0018288": "congenital disorder of glycosylation with hepatic involvement", "MONDO:0018289": "congenital disorder of glycosylation with dilated cardiomyopathy", "MONDO:0018290": "congenital disorder of glycosylation with cardiac malformation as a major feature", "MONDO:0018291": "congenital disorder of glycosylation with intestinal involvement", "MONDO:0018292": "congenital disorder of glycosylation-related bone disorder", "MONDO:0018293": "congenital disorder of glycosylation with skin involvement", "MONDO:0018294": "congenital disorder of glycosylation with nephropathy as a major feature", "MONDO:0018295": "congenital disorder of glycosylation with deafness as a major feature", "MONDO:0018296": "congenital disorder of glycosylation with developmental anomaly", "MONDO:0018298": "multicentric osteolysis-nodulosis-arthropathy spectrum", "MONDO:0018299": "sphingolipidosis with epilepsy", "MONDO:0018301": "interstitial cystitis", "MONDO:0018302": "acquired kinky hair syndrome", "MONDO:0018304": "Schnitzler syndrome", "MONDO:0018305": "chronic granulomatous disease", "MONDO:0018306": "Griscelli syndrome", "MONDO:0018307": "neurodegeneration with brain iron accumulation", "MONDO:0018308": "liver mesenchymal hamartoma", "MONDO:0018309": "Hirschsprung disease", "MONDO:0018310": "Langerhans cell histiocytosis", "MONDO:0018311": "acromelanosis", "MONDO:0018312": "histoplasmosis", "MONDO:0018314": "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression", "MONDO:0018315": "X-linked osteoporosis with fractures", "MONDO:0018316": "fatal post-viral neurodegenerative disorder", "MONDO:0018317": "growth retardation-mild developmental delay-chronic hepatitis syndrome", "MONDO:0018318": "disorder of asparagine metabolism", "MONDO:0018319": "familial episodic pain syndrome", "MONDO:0018320": "primary microcephaly-mild intellectual disability-young-onset diabetes syndrome", "MONDO:0018321": "atypical juvenile parkinsonism", "MONDO:0018322": "HSD10 disease, infantile type", "MONDO:0018323": "HSD10 disease, neonatal type", "MONDO:0018324": "adult-onset myasthenia gravis", "MONDO:0018325": "juvenile myasthenia gravis", "MONDO:0018326": "transient neonatal myasthenia gravis", "MONDO:0018327": "glomus tumor", "MONDO:0018328": "homozygous familial hypercholesterolemia", "MONDO:0018329": "persistent combined dystonia", "MONDO:0018330": "mucinous adenocarcinoma of the appendix", "MONDO:0018332": "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type", "MONDO:0018333": "multiple acyl-CoA dehydrogenase deficiency, mild type", "MONDO:0018334": "chronic hiccup", "MONDO:0018336": "Silver-Russell syndrome due to a point mutation", "MONDO:0018338": "activated PI3K-delta syndrome", "MONDO:0018339": "PrP systemic amyloidosis", "MONDO:0018340": "hereditary isolated aplastic anemia", "MONDO:0018341": "3q27.3 microdeletion syndrome", "MONDO:0018342": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy", "MONDO:0018343": "periodic paralysis with later-onset distal motor neuropathy", "MONDO:0018344": "periodic paralysis with transient compartment-like syndrome", "MONDO:0018346": "ferro-cerebro-cutaneous syndrome", "MONDO:0018349": "MAN1B1-CDG", "MONDO:0018352": "squamous cell carcinoma of penis", "MONDO:0018353": "refractory celiac disease", "MONDO:0018354": "Prader-Willi-like syndrome", "MONDO:0018355": "Prader-Willi-like syndrome due to point mutation", "MONDO:0018356": "secondary neonatal autoimmune disease", "MONDO:0018357": "neonatal antiphospholipid syndrome", "MONDO:0018358": "neonatal autoimmune hemolytic anemia", "MONDO:0018359": "neonatal dermatomyositis", "MONDO:0018360": "neonatal lupus erythematosus", "MONDO:0018361": "neonatal scleroderma", "MONDO:0018362": "persistent idiopathic facial pain", "MONDO:0018363": "focal facial dermal dysplasia", "MONDO:0018364": "malignant epithelial tumor of ovary", "MONDO:0018365": "malignant non-epithelial tumor of ovary", "MONDO:0018368": "primary peritoneal serous/papillary carcinoma", "MONDO:0018369": "immature ovarian teratoma", "MONDO:0018370": "KLHL9-related early-onset distal myopathy", "MONDO:0018371": "nebulin-related early-onset distal myopathy", "MONDO:0018373": "avascular necrosis", "MONDO:0018374": "secondary avascular necrosis", "MONDO:0018375": "traumatic avascular necrosis", "MONDO:0018376": "secondary non-traumatic avascular necrosis", "MONDO:0018377": "rare hereditary disease with avascular necrosis", "MONDO:0018378": "osteonecrosis of the jaw", "MONDO:0018379": "primary avascular necrosis", "MONDO:0018380": "idiopathic avascular necrosis", "MONDO:0018381": "osteochondrosis", "MONDO:0018382": "epiphysiolysis of the hip", "MONDO:0018383": "osteonecrosis of genetic origin", "MONDO:0018384": "avascular necrosis of genetic origin", "MONDO:0018385": "osteochondrosis of genetic origin", "MONDO:0018386": "rare male infertility due to hypothalamic-pituitary-gonadal axis disorder", "MONDO:0018387": "rare male infertility due to adrenal disorder", "MONDO:0018388": "rare male infertility due to testicular endocrine disorder", "MONDO:0018389": "male infertility due to gonadal dysgenesis or sperm disorder", "MONDO:0018390": "male infertility due to sperm disorder", "MONDO:0018391": "male infertility with spermatogenesis disorder", "MONDO:0018392": "male infertility with spermatogenesis disorder due to single gene mutation", "MONDO:0018393": "male infertility with azoospermia or oligozoospermia due to single gene mutation", "MONDO:0018394": "male infertility with teratozoospermia due to single gene mutation", "MONDO:0018395": "male infertility due to sperm motility disorder", "MONDO:0018396": "rare male fertility disorder with obstructive azoospermia", "MONDO:0018397": "female infertility due to hypothalamic-pituitary-gonadal axis disorder", "MONDO:0018398": "female infertility due to a congenital hypogonadotropic hypogonadism", "MONDO:0018400": "rare female infertility due to an adrenal disorder", "MONDO:0018401": "female infertility due to an anomaly of ovarian function", "MONDO:0018402": "female infertility due to gonadal dysgenesis", "MONDO:0018403": "female infertility due to an implantation defect", "MONDO:0018404": "obsolete rare genetic male infertility", "MONDO:0018405": "rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin", "MONDO:0018406": "rare male infertility due to adrenal disorder of genetic origin", "MONDO:0018407": "male infertility due to obstructive azoospermia of genetic origin", "MONDO:0018408": "cystic echinococcosis", "MONDO:0018409": "rare genetic disorder with obstructive azoospermia", "MONDO:0018410": "obsolete rare genetic female infertility", "MONDO:0018411": "rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin", "MONDO:0018412": "rare female infertility due to adrenal disorder of genetic origin", "MONDO:0018413": "female infertility due to an anomaly of ovarian function of genetic origin", "MONDO:0018414": "female infertility due to an implantation defect of genetic origin", "MONDO:0018416": "autosomal recessive spastic paraplegia type 59", "MONDO:0018417": "autosomal recessive spastic paraplegia type 60", "MONDO:0018418": "autosomal recessive spastic paraplegia type 66", "MONDO:0018419": "autosomal recessive spastic paraplegia type 67", "MONDO:0018420": "autosomal recessive spastic paraplegia type 68", "MONDO:0018421": "autosomal recessive spastic paraplegia type 69", "MONDO:0018422": "autosomal recessive spastic paraplegia type 70", "MONDO:0018423": "autosomal recessive spastic paraplegia type 71", "MONDO:0018424": "inherited lipoic acid biosynthesis defect", "MONDO:0018425": "Huntington disease-like syndrome due to C9ORF72 expansions", "MONDO:0018426": "AXIN2-related attenuated familial adenomatous polyposis", "MONDO:0018428": "9q31.1q31.3 microdeletion syndrome", "MONDO:0018429": "14q24.1q24.3 microdeletion syndrome", "MONDO:0018430": "partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome", "MONDO:0018431": "cold-induced sweating syndrome - hyperthermia spectrum", "MONDO:0018432": "lichen myxedematosus", "MONDO:0018433": "acute myeloid leukemia with t(6;9)(p23;q34)", "MONDO:0018434": "acute myeloid leukemia with t(9;11)(p22;q23)", "MONDO:0018435": "acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)", "MONDO:0018436": "megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)", "MONDO:0018437": "acute myeloid leukemia with NPM1 somatic mutations", "MONDO:0018438": "eosinophilic gastrointestinal disease", "MONDO:0018439": "eosinophilic colitis", "MONDO:0018440": "autosomal recessive distal renal tubular acidosis", "MONDO:0018442": "acitretin/etretinate embryopathy", "MONDO:0018443": "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome", "MONDO:0018444": "female infertility due to fertilization defect", "MONDO:0018445": "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome", "MONDO:0018446": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome", "MONDO:0018447": "chondromyxoid fibroma", "MONDO:0018448": "clear cell papillary renal cell carcinoma", "MONDO:0018449": "acquired cystic disease-associated renal cell carcinoma", "MONDO:0018450": "spinal muscular atrophy with respiratory distress type 2", "MONDO:0018451": "X-linked distal hereditary motor neuropathy", "MONDO:0018453": "familial atypical multiple mole melanoma syndrome", "MONDO:0018454": "dysostosis of genetic origin", "MONDO:0018455": "dysostosis of genetic origin with limb anomaly as a major feature", "MONDO:0018456": "polyarticular juvenile idiopathic arthritis", "MONDO:0018457": "rare genetic bone development disorder", "MONDO:0018458": "familial hypocalciuric hypercalcemia", "MONDO:0018459": "isolated glycerol kinase deficiency", "MONDO:0018460": "Eales disease", "MONDO:0018461": "Angelman syndrome due to a point mutation", "MONDO:0018462": "Angelman syndrome due to imprinting defect in 15q11-q13", "MONDO:0018463": "mild phosphoribosylpyrophosphate synthetase superactivity", "MONDO:0018464": "severe phosphoribosylpyrophosphate synthetase superactivity", "MONDO:0018465": "insulin autoimmune syndrome", "MONDO:0018467": "nephropathic infantile cystinosis", "MONDO:0018468": "proton-pump inhibitor-responsive esophageal eosinophilia", "MONDO:0018469": "pulmonary non-tuberculous mycobacterial infection", "MONDO:0018470": "renal agenesis (disease)", "MONDO:0018471": "generalized eruptive keratoacanthoma", "MONDO:0018472": "familial isolated trichomegaly", "MONDO:0018473": "hyperlipoproteinemia type 3", "MONDO:0018474": "13q12.3 microdeletion syndrome", "MONDO:0018475": "PRKAR1B-related neurodegenerative dementia with intermediate filaments", "MONDO:0018476": "dystonia-aphonia syndrome", "MONDO:0018477": "bilirubin encephalopathy", "MONDO:0018479": "congenital adrenal hyperplasia", "MONDO:0018480": "carcinoma of esophagus, salivary gland type", "MONDO:0018481": "undifferentiated carcinoma of esophagus", "MONDO:0018483": "secondary pulmonary alveolar proteinosis", "MONDO:0018484": "semicircular canal dehiscence syndrome", "MONDO:0018485": "glycogen storage disease due to acid maltase deficiency, late-onset", "MONDO:0018486": "visual snow syndrome", "MONDO:0018487": "autosomal recessive severe congenital neutropenia due to CXCR2 deficiency", "MONDO:0018488": "rare genetic odontal or periodontal disorder", "MONDO:0018489": "autoimmune encephalopathy with parasomnia and obstructive sleep apnea", "MONDO:0018490": "cono-spondylar dysplasia", "MONDO:0018491": "3-phosphoglycerate dehydrogenase deficiency", "MONDO:0018492": "hereditary clear cell renal cell carcinoma", "MONDO:0018493": "malignant hyperthermia of anesthesia", "MONDO:0018494": "microcephaly-short stature-intellectual disability-facial dysmorphism syndrome", "MONDO:0018495": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome", "MONDO:0018496": "ARX-related encephalopathy-brain malformation spectrum", "MONDO:0018497": "obsolete rare autonomic nervous system disorder", "MONDO:0018498": "double outlet right ventricle with subaortic or doubly committed ventricular septal defect", "MONDO:0018499": "double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy", "MONDO:0018500": "cutaneous larva migrans", "MONDO:0018501": "obsolete rare carcinoma of stomach", "MONDO:0018502": "hereditary gastric cancer", "MONDO:0018503": "carcinoma of stomach, salivary gland type", "MONDO:0018504": "undifferentiated carcinoma of stomach", "MONDO:0018505": "obsolete rare tumor of small intestine", "MONDO:0018506": "mesenchymal tumor of small intestine", "MONDO:0018507": "microcephaly-complex motor and sensory axonal neuropathy syndrome", "MONDO:0018508": "obsolete rare carcinoma of small intestine", "MONDO:0018509": "squamous cell carcinoma of the small intestine", "MONDO:0018510": "small intestine neuroendocrine neoplasm", "MONDO:0018511": "epithelial tumor of the appendix", "MONDO:0018512": "obsolete rare epithelial tumor of colon", "MONDO:0018513": "squamous cell carcinoma of colon", "MONDO:0018514": "obsolete rare epithelial tumor of rectum", "MONDO:0018515": "squamous cell carcinoma of rectum", "MONDO:0018516": "epithelial tumor of anal canal", "MONDO:0018520": "rare epithelial tumor of pancreas", "MONDO:0018521": "squamous cell carcinoma of pancreas", "MONDO:0018523": "pancreatic mucinous cystadenoma", "MONDO:0018525": "solid pseudopapillary carcinoma of pancreas", "MONDO:0018528": "congenital myopathy with myasthenic-like onset", "MONDO:0018529": "qualitative or quantitative defects of Torsin-1A-interacting protein 1", "MONDO:0018530": "rare epithelial tumor of liver and intrahepatic biliary tract", "MONDO:0018531": "carcinoma of liver and intrahepatic biliary tract", "MONDO:0018532": "adenocarcinoma of liver and intrahepatic biliary tract", "MONDO:0018533": "undifferentiated carcinoma of liver and intrahepatic biliary tract", "MONDO:0018534": "squamous cell carcinoma of liver and intrahepatic biliary tract", "MONDO:0018535": "biliary cystadenocarcinoma", "MONDO:0018536": "adenocarcinoma of gallbladder and extrahepatic biliary tract", "MONDO:0018537": "squamous cell carcinoma of gallbladder and extrahepatic biliary tract", "MONDO:0018538": "inherited digestive cancer-predisposing syndrome", "MONDO:0018539": "rare epithelial tumor of small intestine", "MONDO:0018540": "PFAPA syndrome", "MONDO:0018541": "familial hypoaldosteronism", "MONDO:0018542": "severe congenital neutropenia", "MONDO:0018543": "autosomal dominant hypocalcemia", "MONDO:0018544": "X-linked adrenoleukodystrophy", "MONDO:0018545": "primary immunodeficiency with predisposition to severe viral infection", "MONDO:0018546": "serotonin syndrome", "MONDO:0018547": "acute tricyclic antidepressant poisoning", "MONDO:0018548": "acute poisoning by drugs with membrane-stabilizing effect", "MONDO:0018549": "late-onset scapuloperoneal muscular dystrophy with hyaline bodies", "MONDO:0018550": "spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder", "MONDO:0018551": "patent urachus (disease)", "MONDO:0018552": "urachal sinus", "MONDO:0018553": "urachal diverticulum", "MONDO:0018554": "pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis", "MONDO:0018555": "hypogonadotropic hypogonadism", "MONDO:0018556": "Lambert-Eaton myasthenic syndrome", "MONDO:0018557": "obsolete rare genetic autonomic nervous system disorder", "MONDO:0018558": "syndrome with woolly hair", "MONDO:0018559": "fetal lower urinary tract obstruction", "MONDO:0018560": "anterior urethral valve", "MONDO:0018561": "precocious puberty in female", "MONDO:0018562": "genetic otorhinolaryngological malformation", "MONDO:0018563": "adactyly of foot", "MONDO:0018564": "3p25.3 microdeletion syndrome", "MONDO:0018565": "congenital urachal anomaly", "MONDO:0018566": "short stature-advanced bone age-early-onset osteoarthritis syndrome", "MONDO:0018567": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation", "MONDO:0018569": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome", "MONDO:0018570": "hypophosphatasia", "MONDO:0018571": "contractures-developmental delay-Pierre Robin syndrome", "MONDO:0018572": "severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome", "MONDO:0018573": "intrauterine growth restriction-short stature-early adult-onset diabetes syndrome", "MONDO:0018574": "intellectual disability-expressive aphasia-facial dysmorphism syndrome", "MONDO:0018575": "microcephalic primordial dwarfism-insulin resistance syndrome", "MONDO:0018576": "non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy", "MONDO:0018577": "pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa", "MONDO:0018579": "disorder of ketone body transport", "MONDO:0018581": "progressive encephalomyelitis with rigidity and myoclonus", "MONDO:0018582": "GCGR-related hyperglucagonemia", "MONDO:0018583": "human infection by orthopoxvirus", "MONDO:0018585": "pediatric arterial ischemic stroke", "MONDO:0018586": "zinc-responsive necrolytic acral erythema", "MONDO:0018587": "non-recovering obstetric brachial plexus lesion", "MONDO:0018588": "ALECT2 amyloidosis", "MONDO:0018589": "AApoAIV amyloidosis", "MONDO:0018590": "ABeta2M amyloidosis", "MONDO:0018591": "ITM2B amyloidosis", "MONDO:0018592": "cutaneous polyarteritis nodosa", "MONDO:0018593": "primary polyarteritis nodosa", "MONDO:0018594": "secondary polyarteritis nodosa", "MONDO:0018595": "single-organ polyarteritis nodosa", "MONDO:0018596": "systemic polyarteritis nodosa", "MONDO:0018597": "Plastic bronchitis", "MONDO:0018598": "neonatal adrenoleukodystrophy", "MONDO:0018599": "congenital oculomotor nerve palsy", "MONDO:0018600": "congenital abducens nerve palsy", "MONDO:0018601": "autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome", "MONDO:0018602": "necrotizing soft tissue infection", "MONDO:0018603": "interstitial lung disease due to SP-c deficiency", "MONDO:0018604": "familial colorectal cancer type X", "MONDO:0018605": "disorders of pentose/polyol metabolism", "MONDO:0018606": "extensive peripapillary myelinated nerve fibers", "MONDO:0018607": "combined hamartoma of the retina and retinal pigment epithelium", "MONDO:0018608": "pure autonomic failure", "MONDO:0018609": "syndromic hereditary optic neuropathy", "MONDO:0018610": "early-onset posterior subcapsular cataract", "MONDO:0018611": "early-onset lamellar cataract", "MONDO:0018612": "congenital hypothyroidism", "MONDO:0018613": "AH amyloidosis", "MONDO:0018614": "undetermined early-onset epileptic encephalopathy", "MONDO:0018615": "hemicrania continua", "MONDO:0018616": "central serous chorioretinopathy", "MONDO:0018617": "baroreflex failure", "MONDO:0018618": "46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect", "MONDO:0018620": "hypothalamic adipsic hypernatraemia syndrome", "MONDO:0018621": "lymphoplasmacytic lymphoma without IgM production", "MONDO:0018623": "postpartum psychosis", "MONDO:0018624": "spontaneous intracranial hypotension", "MONDO:0018625": "classic stiff person syndrome", "MONDO:0018626": "paratyphoid fever", "MONDO:0018627": "ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor", "MONDO:0018628": "HIV-associated cancer", "MONDO:0018629": "focal stiff limb syndrome", "MONDO:0018630": "hereditary nonpolyposis colon cancer", "MONDO:0018631": "Marie Unna hereditary hypotrichosis", "MONDO:0018632": "11q22.2q22.3 microdeletion syndrome", "MONDO:0018633": "20q11.2 microdeletion syndrome", "MONDO:0018634": "hereditary amyloidosis", "MONDO:0018635": "idiopathic phalangeal acro-osteolysis", "MONDO:0018636": "autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome", "MONDO:0018637": "familial chylomicronemia syndrome", "MONDO:0018638": "pseudohypoaldosteronism", "MONDO:0018639": "caudal regression-sirenomelia spectrum", "MONDO:0018640": "secondary vasculitis", "MONDO:0018642": "NIK deficiency", "MONDO:0018643": "susceptibility to localized juvenile periodontitis", "MONDO:0018644": "autosomal dominant complex spastic paraplegia type 9B", "MONDO:0018645": "IgG4-related sclerosing cholangitis", "MONDO:0018646": "sclerosing cholangitis (disease)", "MONDO:0018647": "secondary sclerosing cholangitis", "MONDO:0018648": "Keratocystic odontogenic tumor", "MONDO:0018649": "cerebral visual impairment", "MONDO:0018651": "lipoyl transferase 2 deficiency", "MONDO:0018652": "biological anomaly without phenotypic characterization", "MONDO:0018653": "Polymerase proofreading-related adenomatous polyposis", "MONDO:0018654": "idiopathic dropped head syndrome", "MONDO:0018655": "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome", "MONDO:0018656": "tremor-ataxia-central hypomyelination syndrome", "MONDO:0018657": "pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome", "MONDO:0018658": "19p13.3 microduplication syndrome", "MONDO:0018659": "partial duplication of the short arm of chromosome 19", "MONDO:0018660": "hemophilia", "MONDO:0018661": "Zika virus infectious disease", "MONDO:0018662": "autosomal recessive brachyolmia", "MONDO:0018663": "regressive spondylometaphyseal dysplasia", "MONDO:0018664": "ectopia cordis (disease)", "MONDO:0018665": "X-linked acrogigantism due to a point mutation", "MONDO:0018666": "hepatoblastoma", "MONDO:0018667": "pleural empyema (disease)", "MONDO:0018668": "scedosporiosis", "MONDO:0018669": "snakebite envenomation", "MONDO:0018670": "symptomatic form of fragile X syndrome in female carrier", "MONDO:0018671": "IgG4-related kidney disease", "MONDO:0018672": "IgG4-related aortitis", "MONDO:0018673": "IgG4-related pachymeningitis", "MONDO:0018674": "IgG4-related submandibular gland disease", "MONDO:0018675": "IgG4-related ophthalmic disease", "MONDO:0018676": "eosinophilic angiocentric fibrosis", "MONDO:0018677": "visceral heterotaxy", "MONDO:0018678": "polyclonal hyperviscosity syndrome", "MONDO:0018679": "primary cutaneous plasmacytosis", "MONDO:0018680": "cutaneous pseudolymphoma", "MONDO:0018681": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome", "MONDO:0018682": "congenital insensitivity to pain with severe intellectual disability", "MONDO:0018683": "acquired ichthyosis", "MONDO:0018684": "idiopathic neonatal atrial flutter", "MONDO:0018685": "incessant infant ventricular tachycardia", "MONDO:0018686": "acquired Creutzfeldt-Jakob disease", "MONDO:0018687": "progressive muscular atrophy", "MONDO:0018688": "anti-p200 pemphigoid", "MONDO:0018689": "plasma cell leukemia", "MONDO:0018690": "Holmes-Adie syndrome", "MONDO:0018692": "variably protease-sensitive prionopathy", "MONDO:0018694": "isolated tracheo-esophageal fistula", "MONDO:0018695": "avian influenza", "MONDO:0018696": "corticobasal syndrome", "MONDO:0018697": "1p35.2 microdeletion syndrome", "MONDO:0018698": "hereditary neuroendocrine tumor of small intestine", "MONDO:0018699": "pseudohypoparathyroidism with Albright hereditary osteodystrophy", "MONDO:0018700": "pseudohypoparathyroidism without Albright hereditary osteodystrophy", "MONDO:0018701": "congenital nemaline myopathy", "MONDO:0018702": "TAFRO syndrome", "MONDO:0018703": "isolated splenogonadal fusion", "MONDO:0018705": "infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome", "MONDO:0018708": "squamous cell carcinoma of the oral tongue", "MONDO:0018709": "X-linked intellectual disability-hypotonia-movement disorder syndrome", "MONDO:0018710": "megalencephaly-severe kyphoscoliosis-overgrowth syndrome", "MONDO:0018711": "intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome", "MONDO:0018712": "composite hemangioendothelioma", "MONDO:0018713": "retiform hemangioendothelioma", "MONDO:0018714": "primary intralymphatic angioendothelioma", "MONDO:0018715": "congenital hemangioma", "MONDO:0018716": "partially involuting congenital hemangioma", "MONDO:0018717": "mixed cystic lymphatic malformation", "MONDO:0018718": "vascular tumor with associated anomalies", "MONDO:0018719": "rare capillary malformation with associated anomalies", "MONDO:0018720": "common cystic lymphatic malformation", "MONDO:0018721": "rare combined vascular malformation", "MONDO:0018722": "primary lymphedema with associated anomalies", "MONDO:0018723": "rare vascular malformation of major vessels", "MONDO:0018724": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome", "MONDO:0018725": "corpus callosum agenesis-macrocephaly-hypertelorism syndrome", "MONDO:0018727": "immunodeficiency due to a complement regulatory deficiency", "MONDO:0018728": "obsolete rare genetic capillary malformation", "MONDO:0018729": "rare genetic vascular tumor", "MONDO:0018730": "rare genetic venous malformation", "MONDO:0018731": "lethal multiple congenital anomalies/dysmorphic syndrome", "MONDO:0018733": "intellectual disability syndrome due to a DYRK1A point mutation", "MONDO:0018734": "verrucous hemangioma", "MONDO:0018735": "multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome", "MONDO:0018736": "kaposiform lymphangiomatosis", "MONDO:0018737": "catastrophic antiphospholipid syndrome", "MONDO:0018738": "benign metanephric tumour", "MONDO:0018739": "neonatal alloimmune neutropenia", "MONDO:0018740": "drug-induced methemoglobinemia", "MONDO:0018741": "paracetamol poisoning", "MONDO:0018742": "familial gastric type 1 neuroendocrine tumor", "MONDO:0018743": "immune-mediated acquired neuromuscular junction disease", "MONDO:0018744": "oligodendroglial tumor", "MONDO:0018745": "superficial pemphigus", "MONDO:0018746": "mucous membrane pemphigoid", "MONDO:0018747": "acquired epidermolysis bullosa", "MONDO:0018748": "linear IgA Dermatosis", "MONDO:0018749": "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome", "MONDO:0018751": "genetic otorhinolaryngologic disease", "MONDO:0018752": "exercise-induced malignant hyperthermia", "MONDO:0018753": "rare disease with malignant hyperthermia", "MONDO:0018754": "cyanide poisoning", "MONDO:0018755": "scorpion envenomation", "MONDO:0018756": "euthyroid Graves orbitopathy", "MONDO:0018757": "supratip dysplasia", "MONDO:0018758": "familial patent arterial duct", "MONDO:0018759": "childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome", "MONDO:0018760": "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome", "MONDO:0018761": "SMARCA4-deficient sarcoma of thorax", "MONDO:0018762": "non-acquired combined pituitary hormone deficiency", "MONDO:0018763": "Tubulinopathy-associated dysgyria", "MONDO:0018764": "microcephalic primordial dwarfism due to RTTN deficiency", "MONDO:0018765": "cryptogenic multifocal ulcerous stenosing enteritis", "MONDO:0018766": "chronic enteropathy associated with SLCO2A1 gene", "MONDO:0018767": "severe primary trimethylaminuria", "MONDO:0018768": "familial cold autoinflammatory syndrome", "MONDO:0018769": "isosporiasis", "MONDO:0018770": "Jeune syndrome", "MONDO:0018771": "congenital anomaly of ventricular septum", "MONDO:0018772": "Joubert syndrome", "MONDO:0018773": "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome", "MONDO:0018775": "axonal hereditary motor and sensory neuropathy", "MONDO:0018776": "demyelinating hereditary motor and sensory neuropathy", "MONDO:0018777": "autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome", "MONDO:0018778": "intermediate Charcot-Marie-Tooth disease", "MONDO:0018779": "hypercontractile muscle stiffness syndrome", "MONDO:0018780": "congenital generalized hypercontractile muscle stiffness syndrome", "MONDO:0018781": "KID syndrome", "MONDO:0018783": "fibroblastic rheumatism", "MONDO:0018784": "pediatric multiple sclerosis", "MONDO:0018787": "genetic cerebral small vessel disease", "MONDO:0018788": "COL4A1 or COL4A2-related cerebral small vessel disease", "MONDO:0018789": "COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy", "MONDO:0018790": "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy", "MONDO:0018791": "Moyomoya angiopathy", "MONDO:0018792": "Moyamoya syndrome", "MONDO:0018793": "primary condylar hyperplasia", "MONDO:0018794": "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "MONDO:0018795": "syndromic constitutional thrombocytopenia", "MONDO:0018796": "isolated constitutional thrombocytopenia", "MONDO:0018797": "genetic cardiac malformation", "MONDO:0018798": "other genetic dermis disorder", "MONDO:0018799": "obsolete rare hypercholesterolemia", "MONDO:0018800": "Kallmann syndrome", "MONDO:0018801": "congenital bilateral absence of vas deferens", "MONDO:0018804": "MYO5B-related progressive familial intrahepatic cholestasis", "MONDO:0018805": "choledochal cyst", "MONDO:0018806": "primary intrahepatic lithiasis", "MONDO:0018807": "idiopathic ductopenia", "MONDO:0018808": "Caroli syndrome", "MONDO:0018809": "idiopathic peliosis hepatis", "MONDO:0018810": "lethal hydranencephaly-diaphragmatic hernia syndrome", "MONDO:0018811": "congenital portosystemic shunt", "MONDO:0018813": "high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement", "MONDO:0018814": "non-severe combined immunodeficiency", "MONDO:0018815": "aneurysmal bone cyst (disease)", "MONDO:0018816": "isolated neonatal sclerosing cholangitis", "MONDO:0018818": "facial diplegia with paresthesias", "MONDO:0018820": "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome", "MONDO:0018821": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability", "MONDO:0018822": "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome", "MONDO:0018823": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome", "MONDO:0018824": "pyoderma gangrenosum", "MONDO:0018825": "PYCR2-related microcephaly-progressive leukoencephalopathy", "MONDO:0018826": "Lewis-Sumner syndrome", "MONDO:0018827": "familial chilblain lupus", "MONDO:0018828": "UPS18 deficiency", "MONDO:0018829": "familial schizencephaly", "MONDO:0018830": "Kimura disease", "MONDO:0018831": "HTRA1-related cerebral small vessel disease", "MONDO:0018832": "HTRA1-related autosomal dominant cerebral small vessel disease", "MONDO:0018833": "rare idiopathic macular telangiectasia", "MONDO:0018835": "nodular regenerative hyperplasia of the liver", "MONDO:0018837": "postinfectious vasculitis", "MONDO:0018838": "lissencephaly (disease)", "MONDO:0018839": "acquired schizencephaly", "MONDO:0018840": "isolated congenital hepatic fibrosis", "MONDO:0018841": "congenital bile acid synthesis defect", "MONDO:0018842": "primary effusion lymphoma", "MONDO:0018843": "embryonal carcinoma of the central nervous system", "MONDO:0018844": "urachal cyst (disease)", "MONDO:0018845": "focal myositis", "MONDO:0018846": "penile agenesis", "MONDO:0018847": "omphalomesenteric cyst", "MONDO:0018848": "IgG4-related retroperitoneal fibrosis", "MONDO:0018849": "dentinogenesis imperfecta (disease)", "MONDO:0018850": "proliferating trichilemmal cyst", "MONDO:0018851": "familial keratoacanthoma", "MONDO:0018852": "achromatopsia", "MONDO:0018853": "transgrediens et progrediens palmoplantar keratoderma", "MONDO:0018854": "acquired purpura fulminans", "MONDO:0018855": "keratosis pilaris atrophicans", "MONDO:0018856": "lichen amyloidosis", "MONDO:0018857": "creeping myiasis", "MONDO:0018858": "Graham little-Piccardi-Lassueur syndrome", "MONDO:0018860": "microlissencephaly-micromelia syndrome", "MONDO:0018861": "Zellweger-like syndrome without peroxisomal anomalies", "MONDO:0018864": "Kikuchi-Fujimoto disease", "MONDO:0018865": "striate palmoplantar keratoderma", "MONDO:0018866": "Aicardi-Goutieres syndrome", "MONDO:0018868": "metachromatic leukodystrophy", "MONDO:0018869": "cobblestone lissencephaly", "MONDO:0018870": "arterial calcification of infancy", "MONDO:0018871": "acute myelomonocytic leukemia M4", "MONDO:0018872": "acute megakaryoblastic leukemia", "MONDO:0018873": "anterior cutaneous nerve entrapment syndrome", "MONDO:0018874": "acute myeloid leukemia", "MONDO:0018875": "Li-Fraumeni syndrome", "MONDO:0018876": "mantle cell lymphoma", "MONDO:0018877": "retinitis punctata albescens", "MONDO:0018878": "branchiootic syndrome", "MONDO:0018879": "lichen planopilaris", "MONDO:0018880": "rare teratologic disease", "MONDO:0018881": "myelodysplastic syndrome", "MONDO:0018882": "vasculitis", "MONDO:0018883": "Berardinelli-Seip congenital lipodystrophy", "MONDO:0018884": "Roch-Leri mesosomatous lipomatosis", "MONDO:0018885": "orbital leiomyoma", "MONDO:0018887": "obsolete rare cutaneous lupus erythematosus", "MONDO:0018889": "hyaline body myopathy", "MONDO:0018890": "Lyell syndrome", "MONDO:0018891": "familial tumoral calcinosis", "MONDO:0018892": "Wyburn-Mason syndrome", "MONDO:0018893": "Cobb syndrome", "MONDO:0018894": "distal hereditary motor neuropathy", "MONDO:0018895": "Plummer-Vinson syndrome", "MONDO:0018896": "thrombotic thrombocytopenic purpura", "MONDO:0018897": "primary cutaneous CD30+ T-cell lymphoproliferative disease", "MONDO:0018898": "primary cutaneous lymphoma", "MONDO:0018899": "posterior cortical atrophy", "MONDO:0018900": "corticosteroid-sensitive aseptic abscess syndrome", "MONDO:0018901": "left ventricular noncompaction", "MONDO:0018902": "hepatocellular adenoma", "MONDO:0018903": "sarcocystosis", "MONDO:0018904": "primary membranoproliferative glomerulonephritis", "MONDO:0018905": "diffuse large B-cell lymphoma", "MONDO:0018906": "follicular lymphoma", "MONDO:0018907": "craniopharyngioma", "MONDO:0018908": "non-Hodgkin lymphoma", "MONDO:0018910": "oculocutaneous albinism", "MONDO:0018911": "maturity-onset diabetes of the young (disease)", "MONDO:0018912": "Cushing syndrome", "MONDO:0018913": "malakoplakia", "MONDO:0018914": "hypotrichosis simplex", "MONDO:0018916": "isolated anorectal malformation", "MONDO:0018918": "carcinoma of gallbladder and extrahepatic biliary tract", "MONDO:0018919": "McCune-Albright syndrome", "MONDO:0018920": "peripartum cardiomyopathy", "MONDO:0018921": "Meckel syndrome", "MONDO:0018922": "cold agglutinin disease", "MONDO:0018923": "22q11.2 deletion syndrome", "MONDO:0018924": "microphthalmia, Lenz type", "MONDO:0018925": "familial or sporadic hemiplegic migraine", "MONDO:0018926": "human prion disease", "MONDO:0018927": "SUNCT syndrome", "MONDO:0018928": "obsolete rare hepatic disease", "MONDO:0018929": "medial condensing osteitis of the clavicle", "MONDO:0018930": "monosomy 21", "MONDO:0018931": "mucolipidosis type III", "MONDO:0018932": "cirrhotic cardiomyopathy", "MONDO:0018933": "Mazabraud syndrome", "MONDO:0018935": "hairy cell leukemia", "MONDO:0018936": "osteoblastoma (disease)", "MONDO:0018937": "mucopolysaccharidosis type 3", "MONDO:0018938": "mucopolysaccharidosis type 4", "MONDO:0018939": "muscle-eye-brain disease", "MONDO:0018940": "congenital myasthenic syndrome", "MONDO:0018941": "furuncular myiasis", "MONDO:0018942": "macrophagic myofasciitis", "MONDO:0018943": "myofibrillar myopathy (disease)", "MONDO:0018944": "gestational trophoblastic neoplasm", "MONDO:0018945": "McLeod neuroacanthocytosis syndrome", "MONDO:0018946": "rhombencephalosynapsis", "MONDO:0018947": "centronuclear myopathy", "MONDO:0018948": "multiminicore myopathy", "MONDO:0018949": "distal myopathy", "MONDO:0018950": "3-methylcrotonyl-CoA carboxylase deficiency", "MONDO:0018951": "distal myopathy with vocal cord weakness", "MONDO:0018952": "argyria", "MONDO:0018953": "parietal foramina", "MONDO:0018954": "Loeys-Dietz syndrome", "MONDO:0018955": "recurrent respiratory papillomatosis", "MONDO:0018956": "idiopathic bronchiectasis", "MONDO:0018957": "pudendal neuralgia", "MONDO:0018958": "nemaline myopathy", "MONDO:0018959": "potassium-aggravated myotonia", "MONDO:0018960": "congenital primary megaureter", "MONDO:0018961": "familial melanoma", "MONDO:0018962": "common mesentery", "MONDO:0018963": "hereditary methemoglobinemia", "MONDO:0018964": "homocystinuria without methylmalonic aciduria", "MONDO:0018965": "Alport syndrome", "MONDO:0018967": "short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia", "MONDO:0018968": "iniencephaly", "MONDO:0018969": "craniorachischisis (disease)", "MONDO:0018971": "isolated oxycephaly", "MONDO:0018972": "rare epithelial tumor of stomach", "MONDO:0018973": "patterned dystrophy of the retinal pigment epithelium", "MONDO:0018974": "paraneoplastic pemphigus", "MONDO:0018975": "neurofibromatosis type 1", "MONDO:0018976": "schisis association", "MONDO:0018977": "polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG", "MONDO:0018978": "IgG4-related mediastinitis", "MONDO:0018979": "multifocal motor neuropathy", "MONDO:0018980": "acrofacial dysostosis, Kennedy-Teebi type", "MONDO:0018981": "benign idiopathic neonatal seizures", "MONDO:0018982": "Niemann-Pick disease type C", "MONDO:0018983": "tolosa-Hunt syndrome", "MONDO:0018984": "Oroya fever", "MONDO:0018987": "granulomatous mastitis", "MONDO:0018988": "iridocorneal endothelial syndrome", "MONDO:0018989": "recurrent acute pancreatitis", "MONDO:0018991": "hepatoportal sclerosis", "MONDO:0018992": "IgG4-related thyroid disease", "MONDO:0018993": "Charcot-Marie-Tooth disease type 2", "MONDO:0018994": "Charcot-Marie-Tooth disease type X", "MONDO:0018995": "Charcot-Marie-Tooth disease type 4", "MONDO:0018996": "spinocerebellar ataxia with axonal neuropathy type 2", "MONDO:0018997": "Noonan syndrome", "MONDO:0018998": "Leber congenital amaurosis", "MONDO:0018999": "LCAT deficiency", "MONDO:0019000": "perineural cyst", "MONDO:0019002": "Lhermitte-Duclos disease", "MONDO:0019003": "multiple endocrine neoplasia type 2", "MONDO:0019004": "kidney Wilms tumor", "MONDO:0019005": "nephronophthisis (disease)", "MONDO:0019006": "familial idiopathic steroid-resistant nephrotic syndrome", "MONDO:0019007": "vaginal atresia", "MONDO:0019008": "benign recurrent intrahepatic cholestasis", "MONDO:0019009": "isolated focal cortical dysplasia", "MONDO:0019010": "congenital isolated hyperinsulinism", "MONDO:0019011": "Charcot-Marie-Tooth disease type 1", "MONDO:0019012": "Carpenter syndrome", "MONDO:0019013": "non-histaminic angioedema", "MONDO:0019015": "omphalocele (disease)", "MONDO:0019016": "maternally-inherited progressive external ophthalmoplegia", "MONDO:0019017": "short fifth metacarpals-insulin resistance syndrome", "MONDO:0019018": "Tako-tsubo cardiomyopathy", "MONDO:0019019": "osteogenesis imperfecta", "MONDO:0019020": "PANDAS", "MONDO:0019022": "sensorineural hearing loss-early graying-essential tremor syndrome", "MONDO:0019023": "cutaneous mastocytosis", "MONDO:0019024": "mast cell sarcoma", "MONDO:0019025": "extracutaneous mastocytoma", "MONDO:0019026": "autosomal recessive osteopetrosis", "MONDO:0019027": "otopalatodigital syndrome", "MONDO:0019028": "amoebiasis due to Entamoeba histolytica", "MONDO:0019029": "segmental odontomaxillary dysplasia", "MONDO:0019031": "thrombocytopenia with congenital dyserythropoietic anemia", "MONDO:0019032": "X-linked intellectual disability with isolated growth hormone deficiency", "MONDO:0019033": "primary cutis verticis gyrata", "MONDO:0019034": "accessory pancreas", "MONDO:0019035": "pancreatoblastoma", "MONDO:0019036": "amoebiasis due to free-living amoebae", "MONDO:0019037": "progressive supranuclear palsy", "MONDO:0019038": "rare maxillo-facial surgical disease", "MONDO:0019039": "rare hemorrhagic disorder due to a constitutional coagulation factors defect", "MONDO:0019040": "chromosomal anomaly", "MONDO:0019041": "obsolete rare genetic inherited tumor", "MONDO:0019042": "multiple congenital anomalies/dysmorphic syndrome", "MONDO:0019043": "obsolete rare genetic skin disease", "MONDO:0019044": "tumor of hematopoietic and lymphoid tissues", "MONDO:0019045": "obsolete rare sleep disorder", "MONDO:0019046": "leukodystrophy", "MONDO:0019047": "obsolete rare deafness", "MONDO:0019048": "obsolete rare vascular disease", "MONDO:0019049": "obsolete rare dystonia", "MONDO:0019050": "inherited hemoglobinopathy", "MONDO:0019052": "inborn errors of metabolism", "MONDO:0019053": "peroxisomal disease", "MONDO:0019054": "congenital limb malformation", "MONDO:0019056": "neuromuscular disease", "MONDO:0019058": "neurometabolic disease", "MONDO:0019059": "obsolete rare parkinsonian disorder", "MONDO:0019060": "bone neoplasm", "MONDO:0019061": "rare parathyroid disease and phosphocalcic metabolism anomaly", "MONDO:0019062": "obsolete rare infectious disease", "MONDO:0019063": "vascular anomaly", "MONDO:0019064": "hereditary spastic paraplegia", "MONDO:0019065": "amyloidosis (disease)", "MONDO:0019066": "syndrome with brachydactyly", "MONDO:0019067": "idiopathic steroid-sensitive nephrotic syndrome", "MONDO:0019068": "congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization", "MONDO:0019071": "pure hair and nail ectodermal dysplasia", "MONDO:0019074": "bilateral acute depigmentation of the iris", "MONDO:0019075": "Bosley-Salih-Alorainy syndrome", "MONDO:0019076": "circumscribed palmoplantar hypokeratosis", "MONDO:0019077": "warty dyskeratoma", "MONDO:0019078": "Ritscher-Schinzel syndrome", "MONDO:0019079": "proximal spinal muscular atrophy", "MONDO:0019080": "alopecia totalis", "MONDO:0019082": "bullous pemphigoid", "MONDO:0019083": "Leigh syndrome with cardiomyopathy", "MONDO:0019084": "radiation proctitis", "MONDO:0019085": "vernal keratoconjunctivitis", "MONDO:0019086": "carcinoma of esophagus", "MONDO:0019087": "cholangiocarcinoma", "MONDO:0019088": "post-transplant lymphoproliferative disease", "MONDO:0019091": "bronchopulmonary dysplasia", "MONDO:0019092": "infantile apnea", "MONDO:0019093": "immunodeficiency due to selective anti-polysaccharide antibody deficiency", "MONDO:0019094": "congenital Epstein-Barr virus infection", "MONDO:0019095": "plague", "MONDO:0019096": "obsolete rare pulmonary hypertension", "MONDO:0019097": "rare hemorrhagic disorder due to a constitutional platelet anomaly", "MONDO:0019098": "autoimmune thrombocytopenia", "MONDO:0019099": "obsolete rare soft tissue tumor", "MONDO:0019100": "neuromyelitis optica", "MONDO:0019101": "retinal capillary malformation", "MONDO:0019102": "dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome", "MONDO:0019103": "benign exophthalmos syndrome", "MONDO:0019104": "Sandifer syndrome", "MONDO:0019105": "renal nutcracker syndrome", "MONDO:0019107": "Rh deficiency syndrome", "MONDO:0019108": "silent sinus syndrome", "MONDO:0019109": "CANOMAD syndrome", "MONDO:0019110": "obsolete rare central nervous system or retinal vascular disease", "MONDO:0019111": "familial thrombocytosis", "MONDO:0019112": "cancer-associated retinopathy", "MONDO:0019113": "benign paroxysmal torticollis of infancy", "MONDO:0019114": "psychogenic movement disorders", "MONDO:0019115": "obesity due to melanocortin 4 receptor deficiency", "MONDO:0019116": "catecholamine-producing tumor", "MONDO:0019117": "genetic nervous system disorder", "MONDO:0019118": "inherited retinal dystrophy", "MONDO:0019119": "muscular channelopathy", "MONDO:0019120": "pili bifurcati", "MONDO:0019121": "pneumocystosis", "MONDO:0019122": "idiopathic acute eosinophilic pneumonia", "MONDO:0019123": "continuous spikes and waves during sleep", "MONDO:0019124": "microscopic polyangiitis", "MONDO:0019125": "relapsing polychondritis", "MONDO:0019126": "intractable diarrhea of infancy", "MONDO:0019127": "polymyositis", "MONDO:0019128": "mullerian aplasia", "MONDO:0019129": "global developmental delay-osteopenia-ectodermal defect syndrome", "MONDO:0019130": "tubular renal disease-cardiomyopathy syndrome", "MONDO:0019131": "ossification anomalies-psychomotor developmental delay syndrome", "MONDO:0019132": "spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome", "MONDO:0019133": "visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome", "MONDO:0019134": "central neurocytoma", "MONDO:0019136": "Zygomycosis", "MONDO:0019137": "non-24-hour sleep-wake syndrome", "MONDO:0019138": "bleeding diathesis due to a collagen receptor defect", "MONDO:0019139": "acquired hemophilia", "MONDO:0019140": "acute ackee fruit intoxication", "MONDO:0019141": "porokeratosis of Mibelli", "MONDO:0019142": "inherited porphyria", "MONDO:0019143": "angiostrongyliasis", "MONDO:0019144": "hereditary thrombophilia due to congenital protein S deficiency", "MONDO:0019145": "hereditary thrombophilia due to congenital protein C deficiency", "MONDO:0019146": "inherited susceptibility to mycobacterial diseases", "MONDO:0019147": "myiasis", "MONDO:0019148": "Wolman disease", "MONDO:0019149": "cholesteryl ester storage disease", "MONDO:0019150": "familial isolated restrictive cardiomyopathy", "MONDO:0019151": "oligocone trichromacy", "MONDO:0019152": "Oguchi disease", "MONDO:0019153": "brain malformation-congenital heart disease-postaxial polydactyly syndrome", "MONDO:0019154": "androgen insensitivity syndrome", "MONDO:0019155": "Leydig cell hypoplasia", "MONDO:0019156": "angioosteohypotrophic syndrome", "MONDO:0019157": "acquired idiopathic sideroblastic anemia", "MONDO:0019158": "tropical endomyocardial fibrosis", "MONDO:0019159": "Loeffler endocarditis", "MONDO:0019160": "primary progressive freezing gait", "MONDO:0019161": "pseudohypoaldosteronism type 1", "MONDO:0019162": "pseudohypoaldosteronism type 2", "MONDO:0019164": "6q terminal deletion syndrome", "MONDO:0019165": "central precocious puberty", "MONDO:0019167": "immunoglobulin a vasculitis", "MONDO:0019168": "pyomyositis", "MONDO:0019169": "pyruvate dehydrogenase deficiency", "MONDO:0019170": "polyarteritis nodosa", "MONDO:0019171": "familial long QT syndrome", "MONDO:0019172": "aniridia", "MONDO:0019173": "rabies", "MONDO:0019174": "infantile Refsum disease", "MONDO:0019175": "primary lymphedema", "MONDO:0019176": "trichorhinophalangeal syndrome type 1 and 3", "MONDO:0019177": "odontoleukodystrophy", "MONDO:0019178": "auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome", "MONDO:0019179": "monosomy 9q22.3", "MONDO:0019180": "hereditary hemorrhagic telangiectasia", "MONDO:0019181": "non-syndromic X-linked intellectual disability", "MONDO:0019182": "monogenic obesity", "MONDO:0019183": "inherited odontologic disease", "MONDO:0019186": "Q fever", "MONDO:0019187": "Axenfeld-Rieger syndrome", "MONDO:0019188": "Rubinstein-Taybi syndrome", "MONDO:0019189": "inborn disorder of amino acid and other organic acid metabolism", "MONDO:0019190": "juvenile polyposis of infancy", "MONDO:0019191": "IgG4-related dacryoadenitis and sialadenitis", "MONDO:0019192": "AKT2-related familial partial lipodystrophy", "MONDO:0019193": "acquired generalized lipodystrophy", "MONDO:0019194": "localized lipodystrophy", "MONDO:0019195": "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome", "MONDO:0019196": "Foix-Alajouanine syndrome", "MONDO:0019197": "folinic acid-responsive seizures", "MONDO:0019198": "sympathetic ophthalmia", "MONDO:0019199": "interstitial granulomatous dermatitis with arthritis", "MONDO:0019200": "retinitis pigmentosa", "MONDO:0019201": "thyrotoxic periodic paralysis", "MONDO:0019202": "myxofibrosarcoma", "MONDO:0019203": "acute interstitial pneumonia", "MONDO:0019204": "respiratory bronchiolitis-interstitial lung disease syndrome", "MONDO:0019205": "trichodysplasia-amelogenesis imperfecta syndrome", "MONDO:0019207": "DEND syndrome", "MONDO:0019208": "Bickerstaff brainstem encephalitis", "MONDO:0019209": "Japanese encephalitis", "MONDO:0019210": "cutaneous neuroendocrine carcinoma", "MONDO:0019211": "isolated congenital anonychia", "MONDO:0019212": "disseminated superficial actinic porokeratosis", "MONDO:0019213": "cerebral organic aciduria", "MONDO:0019214": "inborn carbohydrate metabolic disorder", "MONDO:0019215": "classic organic aciduria", "MONDO:0019216": "inborn disorder of amino acid absorption and transport", "MONDO:0019218": "inborn disorder of bile acid synthesis", "MONDO:0019219": "inborn disorder of neurotransmitter metabolism and transport", "MONDO:0019220": "inborn disorder of cobalamin metabolism and transport", "MONDO:0019222": "inborn disorder of methionine cycle and sulfur amino acid metabolism", "MONDO:0019223": "inborn disorder of fatty acid oxidation and ketone body metabolism", "MONDO:0019225": "gluconeogenesis disorder", "MONDO:0019226": "glucose transport disorder", "MONDO:0019227": "inborn disorder of glycerol metabolism", "MONDO:0019228": "inborn disorder of histidine metabolism", "MONDO:0019229": "inborn disorder of ketolysis", "MONDO:0019230": "inborn disorder of ornithine or proline metabolism", "MONDO:0019231": "inborn disorder of pentose phosphate metabolism", "MONDO:0019232": "inborn disorder of peptide metabolism", "MONDO:0019233": "peroxisomal beta-oxidation disorder", "MONDO:0019234": "peroxisome biogenesis disorder", "MONDO:0019235": "inborn disorder of phenylalanin or tyrosine metabolism", "MONDO:0019236": "inborn disorder of purine metabolism", "MONDO:0019237": "inborn disorder of pyridoxine metabolism", "MONDO:0019238": "inborn disorder of pyrimidine metabolism", "MONDO:0019239": "inborn disorder of serine family metabolism", "MONDO:0019240": "sterol biosynthesis disorder", "MONDO:0019241": "inborn disorder of the gamma-glutamyl cycle", "MONDO:0019242": "inborn disorder of branched-chain amino acid metabolism", "MONDO:0019243": "inborn disorder of energy metabolism", "MONDO:0019245": "lysosomal lipid storage disorder", "MONDO:0019246": "inborn disorder of lysosomal amino acid transport", "MONDO:0019248": "mucolipidosis", "MONDO:0019249": "mucopolysaccharidosis", "MONDO:0019250": "inborn disorder of biogenic amine metabolism and transport", "MONDO:0019251": "oligosaccharidosis", "MONDO:0019252": "other metabolic disease with skin involvement", "MONDO:0019253": "metabolic disease involving other neurotransmitter deficiency", "MONDO:0019254": "inborn disorder of purine or pyrimidine metabolism", "MONDO:0019255": "sphingolipidosis", "MONDO:0019256": "sterol metabolism disorder", "MONDO:0019257": "hemochromatosis type 2", "MONDO:0019258": "mild phenylketonuria", "MONDO:0019259": "classic phenylketonuria", "MONDO:0019260": "adult neuronal ceroid lipofuscinosis", "MONDO:0019261": "infantile neuronal ceroid lipofuscinosis", "MONDO:0019262": "juvenile neuronal ceroid lipofuscinosis", "MONDO:0019263": "autosomal erythropoietic protoporphyria", "MONDO:0019264": "alpha-N-acetylgalactosaminidase deficiency type 3", "MONDO:0019265": "diazoxide-resistant focal hyperinsulinism", "MONDO:0019266": "SAPHO syndrome", "MONDO:0019267": "vitamin B12-unresponsive methylmalonic acidemia type mut-", "MONDO:0019268": "rare epidermal disease", "MONDO:0019269": "ichthyosis (disease)", "MONDO:0019270": "erythrokeratoderma", "MONDO:0019271": "acrokeratoderma", "MONDO:0019272": "hereditary palmoplantar keratoderma", "MONDO:0019274": "other epidermal disorder", "MONDO:0019275": "other genetic epidermal disease", "MONDO:0019276": "inherited epidermolysis bullosa", "MONDO:0019277": "epidermal appendage anomaly", "MONDO:0019278": "hair anomaly", "MONDO:0019280": "hypertrichosis (disease)", "MONDO:0019281": "isolated genetic hair shaft abnormality", "MONDO:0019282": "syndromic hair shaft abnormality", "MONDO:0019283": "nail anomaly", "MONDO:0019284": "inherited isolated nail anomaly", "MONDO:0019285": "syndromic nail anomaly", "MONDO:0019286": "sebaceous gland anomaly", "MONDO:0019287": "ectodermal dysplasia syndrome", "MONDO:0019288": "skin pigmentation disease", "MONDO:0019289": "hyperpigmentation of the skin", "MONDO:0019290": "hypopigmentation of the skin (disease)", "MONDO:0019291": "obsolete rare genetic dermis disorder", "MONDO:0019292": "dermis elastic tissue disorder", "MONDO:0019293": "skin vascular disease", "MONDO:0019294": "mixed dermis disorder", "MONDO:0019296": "subcutaneous tissue disease", "MONDO:0019297": "lymphedema", "MONDO:0019298": "obsolete rare urticaria", "MONDO:0019299": "unclassified genetic skin disorder", "MONDO:0019300": "obsolete rare skin tumor or hamartoma", "MONDO:0019301": "metabolic disease with skin involvement", "MONDO:0019303": "premature aging", "MONDO:0019304": "rare photodermatosis", "MONDO:0019305": "immune deficiency with skin involvement", "MONDO:0019306": "congenital non-bullous ichthyosiform erythroderma", "MONDO:0019307": "generalized junctional epidermolysis bullosa non-Herlitz type", "MONDO:0019308": "junctional epidermolysis bullosa inversa", "MONDO:0019309": "late-onset junctional epidermolysis bullosa", "MONDO:0019310": "recessive dystrophic epidermolysis bullosa inversa", "MONDO:0019311": "woolly hair nevus", "MONDO:0019312": "Hermansky-Pudlak syndrome", "MONDO:0019314": "cutaneous mastocytoma", "MONDO:0019315": "diffuse cutaneous mastocytosis", "MONDO:0019316": "maculopapular cutaneous mastocytosis", "MONDO:0019317": "follicular atrophoderma-basal cell carcinoma", "MONDO:0019318": "inflammatory linear verrucous epidermal nevus", "MONDO:0019319": "verrucous nevus", "MONDO:0019320": "acanthokeratolytic verrucous nevus", "MONDO:0019321": "atypical Werner syndrome", "MONDO:0019322": "pemphigus vegetans", "MONDO:0019323": "pemphigus erythematosus", "MONDO:0019324": "pemphigus foliaceus", "MONDO:0019325": "phakomatosis cesioflammea", "MONDO:0019326": "phakomatosis cesiomarmorata", "MONDO:0019327": "phakomatosis spilorosea", "MONDO:0019328": "macrocystic lymphatic malformation", "MONDO:0019329": "microcystic lymphatic malformation", "MONDO:0019330": "pili gemini", "MONDO:0019332": "punctate palmoplantar keratoderma type 1", "MONDO:0019333": "autosomal recessive hyperinsulinism due to SUR1 deficiency", "MONDO:0019334": "autosomal recessive hyperinsulinism due to Kir6.2 deficiency", "MONDO:0019335": "mild hyperphenylalaninemia", "MONDO:0019336": "Gardner syndrome", "MONDO:0019337": "autoimmune bullous skin disease", "MONDO:0019338": "sarcoidosis", "MONDO:0019339": "47,XYY syndrome", "MONDO:0019340": "scleroderma (disease)", "MONDO:0019342": "Seckel syndrome", "MONDO:0019344": "antisynthetase syndrome", "MONDO:0019345": "shigellosis", "MONDO:0019346": "sialidosis type 1", "MONDO:0019347": "peeling skin syndrome", "MONDO:0019348": "Ehlers-Danlos syndrome with periventricular heterotopia", "MONDO:0019349": "Sotos syndrome", "MONDO:0019350": "hereditary spherocytosis", "MONDO:0019351": "isolated spina bifida", "MONDO:0019353": "Stargardt disease", "MONDO:0019354": "Stickler syndrome", "MONDO:0019355": "adult-onset Still disease", "MONDO:0019356": "urogenital tract malformation", "MONDO:0019357": "congenital narrowing of cervical spinal canal", "MONDO:0019358": "encephalopathy due to sulfite oxidase deficiency", "MONDO:0019359": "Rocky mountain spotted fever", "MONDO:0019360": "rickettsialpox", "MONDO:0019362": "epidemic louse-borne typhus", "MONDO:0019364": "pseudotyphus of California", "MONDO:0019365": "scrub typhus", "MONDO:0019366": "free sialic acid storage disease", "MONDO:0019367": "regional odontodysplasia", "MONDO:0019368": "florid cemento-osseous dysplasia", "MONDO:0019369": "complex regional pain syndrome", "MONDO:0019370": "vulvovaginal gingival syndrome", "MONDO:0019371": "narcolepsy without cataplexy", "MONDO:0019372": "solitary bone cyst", "MONDO:0019373": "desmoplastic small round cell tumor", "MONDO:0019374": "CAMOS syndrome", "MONDO:0019375": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "MONDO:0019376": "West-Nile encephalitis", "MONDO:0019377": "Mycoplasma encephalitis", "MONDO:0019378": "la Crosse encephalitis", "MONDO:0019380": "western equine encephalitis", "MONDO:0019383": "acute disseminated encephalomyelitis", "MONDO:0019384": "encephalitis lethargica", "MONDO:0019385": "steroid-responsive encephalopathy associated with autoimmune thyroiditis", "MONDO:0019386": "progressive rubella panencephalitis", "MONDO:0019387": "macrostomia-preauricular tags-external ophthalmoplegia syndrome", "MONDO:0019388": "pelvis syndrome", "MONDO:0019389": "X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome", "MONDO:0019390": "Susac syndrome", "MONDO:0019391": "Fanconi anemia", "MONDO:0019392": "syringocystadenoma papilliferum", "MONDO:0019393": "idiopathic malabsorption due to bile acid synthesis defects", "MONDO:0019394": "Senior-Boichis syndrome", "MONDO:0019395": "Hinman syndrome", "MONDO:0019396": "collagen type III glomerulopathy", "MONDO:0019397": "unknown leukodystrophy", "MONDO:0019398": "desmin-related myopathy with Mallory body-like inclusions", "MONDO:0019399": "Isaac syndrome", "MONDO:0019401": "sporadic idiopathic steroid-resistant nephrotic syndrome", "MONDO:0019402": "beta thalassemia", "MONDO:0019403": "congenital dyserythropoietic anemia", "MONDO:0019404": "perineurioma", "MONDO:0019405": "facial onset sensory and motor neuronopathy", "MONDO:0019406": "craniofacial conodysplasia", "MONDO:0019407": "microcephalic osteodysplastic dysplasia, Saul-Wilson type", "MONDO:0019408": "Astley-Kendall dysplasia", "MONDO:0019409": "idiopathic juvenile osteoporosis", "MONDO:0019410": "nodulosis-arthropathy-osteolysis syndrome", "MONDO:0019411": "genochondromatosis type 1", "MONDO:0019412": "dysspondyloenchondromatosis", "MONDO:0019413": "ischio-vertebral syndrome", "MONDO:0019414": "BRESEK syndrome", "MONDO:0019415": "fetal and neonatal alloimmune thrombocytopenia", "MONDO:0019416": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "MONDO:0019417": "X-linked intellectual disability-precocious puberty-obesity syndrome", "MONDO:0019418": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "MONDO:0019419": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome", "MONDO:0019420": "X-linked intellectual disability, Pai type", "MONDO:0019421": "X-linked intellectual disability, Seemanova type", "MONDO:0019422": "X-linked intellectual disability, Stevenson type", "MONDO:0019423": "X-linked intellectual disability, Stoll type", "MONDO:0019424": "X-linked intellectual disability-acromegaly-hyperactivity syndrome", "MONDO:0019426": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome", "MONDO:0019427": "X-linked neurodegenerative syndrome, Bertini type", "MONDO:0019428": "fried syndrome", "MONDO:0019429": "X-linked neurodegenerative syndrome, Hamel type", "MONDO:0019430": "X-linked intellectual disability-ataxia-apraxia syndrome", "MONDO:0019431": "primitive portal vein thrombosis", "MONDO:0019432": "rheumatoid factor-negative juvenile idiopathic arthritis", "MONDO:0019433": "oligoarticular juvenile idiopathic arthritis", "MONDO:0019434": "systemic-onset juvenile idiopathic arthritis", "MONDO:0019435": "rheumatoid factor-positive polyarticular juvenile idiopathic arthritis", "MONDO:0019436": "psoriasis-related juvenile idiopathic arthritis", "MONDO:0019437": "enthesitis-related juvenile idiopathic arthritis", "MONDO:0019438": "AL amyloidosis", "MONDO:0019439": "AA amyloidosis", "MONDO:0019440": "wild type ABeta2M amyloidosis", "MONDO:0019441": "ATTRV122I amyloidosis", "MONDO:0019443": "dextro-looped transposition of the great arteries", "MONDO:0019444": "Trichinellosis", "MONDO:0019445": "trichofolliculoma", "MONDO:0019446": "localized lichen myxedematosus", "MONDO:0019447": "atypical lichen myxedematosus", "MONDO:0019448": "benign adult familial myoclonic epilepsy", "MONDO:0019449": "lissencephaly type 3-familial fetal akinesia sequence syndrome", "MONDO:0019450": "lissencephaly with cerebellar hypoplasia", "MONDO:0019451": "chronic neutrophilic leukemia", "MONDO:0019452": "myeloproliferative neoplasm, unclassifiable", "MONDO:0019453": "refractory cytopenia with multilineage dysplasia", "MONDO:0019454": "myelodysplastic syndrome with excess blasts", "MONDO:0019455": "acute panmyelosis with myelofibrosis", "MONDO:0019456": "acute myeloid leukemia with multilineage dysplasia", "MONDO:0019457": "therapy related acute myeloid leukemia and myelodysplastic syndrome", "MONDO:0019458": "acute basophilic leukemia", "MONDO:0019460": "acute leukemia of ambiguous lineage", "MONDO:0019461": "B-cell prolymphocytic leukemia", "MONDO:0019462": "splenic marginal zone lymphoma", "MONDO:0019463": "non-amyloid monoclonal immunoglobulin deposition disease", "MONDO:0019464": "heavy chain disease", "MONDO:0019465": "nodal marginal zone B-cell lymphoma", "MONDO:0019466": "lymphomatoid granulomatosis", "MONDO:0019467": "CD4+/CD56+ hematodermic neoplasm", "MONDO:0019468": "T-cell prolymphocytic leukemia", "MONDO:0019469": "T-cell large granular lymphocyte leukemia", "MONDO:0019470": "aggressive NK-cell leukemia", "MONDO:0019471": "adult T-cell leukemia/lymphoma", "MONDO:0019472": "extranodal nasal NK/T cell lymphoma", "MONDO:0019473": "enteropathy-associated T-cell lymphoma", "MONDO:0019474": "hepatosplenic T-cell lymphoma", "MONDO:0019475": "subcutaneous panniculitis-like T-cell lymphoma", "MONDO:0019476": "primary cutaneous peripheral T-cell lymphoma not otherwise specified", "MONDO:0019479": "histiocytic sarcoma", "MONDO:0019480": "Langerhans cell sarcoma", "MONDO:0019483": "methotrexate-associated lymphoproliferative disorders", "MONDO:0019484": "hypothalamic hamartomas with gelastic seizures", "MONDO:0019485": "idiopathic hemiconvulsion-hemiplegia syndrome", "MONDO:0019487": "epilepsy with myoclonic absences", "MONDO:0019488": "myoclonic epilepsy in non-progressive encephalopathies", "MONDO:0019489": "diffuse palmoplantar keratoderma - acrocyanosis syndrome", "MONDO:0019490": "progressive familial heart block", "MONDO:0019491": "obsolete rare intellectual disability", "MONDO:0019493": "primary adult heart tumor", "MONDO:0019494": "primary pediatric heart tumor", "MONDO:0019496": "neuroendocrine neoplasm", "MONDO:0019497": "nonsyndromic genetic deafness", "MONDO:0019498": "tungiasis", "MONDO:0019499": "Turner syndrome", "MONDO:0019500": "extragonadal teratoma", "MONDO:0019501": "Usher syndrome", "MONDO:0019502": "autosomal recessive non-syndromic intellectual disability", "MONDO:0019503": "anterior segment dysgenesis", "MONDO:0019504": "superior limbic keratoconjunctivitis", "MONDO:0019505": "hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome", "MONDO:0019506": "obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome", "MONDO:0019507": "amelogenesis imperfecta", "MONDO:0019508": "van der Woude syndrome", "MONDO:0019509": "cutaneous leukocytoclastic angiitis", "MONDO:0019512": "congenital heart malformation", "MONDO:0019513": "esophageal malformation", "MONDO:0019514": "hepatic veno-occlusive disease", "MONDO:0019515": "obsolete rare dementia", "MONDO:0019516": "exudative vitreoretinopathy", "MONDO:0019517": "Waardenburg syndrome type 2", "MONDO:0019518": "Waardenburg-Shah syndrome", "MONDO:0019519": "obsolete rare skin disease", "MONDO:0019520": "syndromic lymphedema", "MONDO:0019521": "centripetalis recessive dystrophic epidermolysis bullosa", "MONDO:0019522": "recessive dystrophic epidermolysis bullosa-generalized other", "MONDO:0019524": "infantile Bartter syndrome with sensorineural deafness", "MONDO:0019525": "tetrasomy X", "MONDO:0019526": "erythema elevatum diutinum", "MONDO:0019527": "undifferentiated connective tissue syndrome", "MONDO:0019528": "IgG4-related hepatopathy", "MONDO:0019529": "radiation myelitis", "MONDO:0019530": "non-syndromic syndactyly", "MONDO:0019531": "hemolytic anemia due to glutathione reductase deficiency", "MONDO:0019532": "autoimmune hemolytic anemia, warm type", "MONDO:0019533": "paroxysmal cold hemoglobinuria", "MONDO:0019534": "mixed-type autoimmune hemolytic anemia", "MONDO:0019535": "drug-induced autoimmune hemolytic anemia", "MONDO:0019536": "typical hemolytic-uremic syndrome", "MONDO:0019537": "hemoglobin D disease", "MONDO:0019538": "Gaisbock syndrome", "MONDO:0019540": "diffuse alveolar hemorrhage (disease)", "MONDO:0019541": "non-infectious posterior uveitis", "MONDO:0019542": "acute liver failure", "MONDO:0019543": "acquired aneurysmal subarachnoid hemorrhage", "MONDO:0019544": "cocaine intoxication", "MONDO:0019545": "systemic monochloroacetate poisoning", "MONDO:0019546": "other acquired skin disease", "MONDO:0019547": "Wells syndrome", "MONDO:0019548": "autosomal dominant intermediate Charcot-Marie-Tooth disease", "MONDO:0019549": "severe early-onset axonal neuropathy due to MFN2 deficiency", "MONDO:0019550": "hereditary motor and sensory neuropathy with acrodystrophy", "MONDO:0019551": "hereditary motor and sensory neuropathy type 6", "MONDO:0019552": "centrifugal lipodystrophy", "MONDO:0019553": "drug-induced localized lipodystrophy", "MONDO:0019554": "idiopathic localized lipodystrophy", "MONDO:0019555": "panniculitis and localized lipodystrophy", "MONDO:0019556": "pressure-induced localized lipoatrophy", "MONDO:0019557": "chilblain lupus", "MONDO:0019558": "discoid lupus erythematosus", "MONDO:0019559": "hypertrophic or verrucous lupus erythematosus", "MONDO:0019560": "lupus erythematosus tumidus", "MONDO:0019561": "lupus erythematosus panniculitis", "MONDO:0019562": "localized scleroderma", "MONDO:0019563": "CREST syndrome", "MONDO:0019565": "hereditary von Willebrand disease", "MONDO:0019567": "Ehlers-Danlos syndrome type 1", "MONDO:0019568": "Ehlers-Danlos syndrome type 2", "MONDO:0019569": "Cockayne syndrome type 1", "MONDO:0019570": "Cockayne syndrome type 2", "MONDO:0019571": "autosomal dominant cutis laxa", "MONDO:0019572": "autosomal recessive cutis laxa type 1", "MONDO:0019573": "autosomal recessive cutis laxa type 2", "MONDO:0019574": "secondary intestinal lymphangiectasia", "MONDO:0019575": "hypotrichosis simplex of the scalp", "MONDO:0019576": "telangiectasia macularis eruptiva perstans", "MONDO:0019577": "anonychia-onychodystrophy syndrome", "MONDO:0019578": "nodular lichen myxedematosus", "MONDO:0019579": "discrete papular lichen myxedematosus", "MONDO:0019580": "papular mucinosis of infancy", "MONDO:0019581": "acral persistent papular mucinosis", "MONDO:0019582": "self-healing papular mucinosis", "MONDO:0019583": "localized lichen myxedematosus with mixed features of different subtypes", "MONDO:0019584": "localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms", "MONDO:0019585": "scleromyxedema without monoclonal gammopathy", "MONDO:0019586": "X-linked nonsyndromic deafness", "MONDO:0019587": "autosomal dominant nonsyndromic deafness", "MONDO:0019588": "autosomal recessive nonsyndromic deafness", "MONDO:0019589": "syndromic genetic deafness", "MONDO:0019590": "rare endocrine growth disease", "MONDO:0019591": "panhypopituitarism", "MONDO:0019593": "46,XX disorder of sex development induced by fetal androgens excess", "MONDO:0019594": "46,XY disorder of sex development due to a testosterone synthesis defect", "MONDO:0019595": "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect", "MONDO:0019596": "46,XY disorder of sex development due to testicular steroidogenesis defect", "MONDO:0019597": "46,XY disorder of sex development due to isolated 17,20-lyase deficiency", "MONDO:0019599": "primary lipodystrophy", "MONDO:0019600": "xeroderma pigmentosum", "MONDO:0019601": "autosomal recessive axonal hereditary motor and sensory neuropathy", "MONDO:0019602": "other inborn metabolic disease", "MONDO:0019603": "osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome", "MONDO:0019604": "acquired monoclonal Ig light chain-associated Fanconi syndrome", "MONDO:0019605": "immunotactoid or fibrillary glomerulopathy", "MONDO:0019606": "simple cryoglobulinemia", "MONDO:0019607": "unspecified juvenile idiopathic arthritis", "MONDO:0019608": "46,XX disorder of sex development induced by maternal-derived androgen", "MONDO:0019609": "Zellweger syndrome", "MONDO:0019610": "Zollinger-Ellison syndrome", "MONDO:0019611": "TSH-secreting pituitary adenoma", "MONDO:0019612": "functioning gonadotropic adenoma", "MONDO:0019613": "non-functioning pituitary adenoma", "MONDO:0019614": "pituitary deficiency due to Rathke's pouch cysts", "MONDO:0019615": "pituitary dermoid and epidermoid cysts", "MONDO:0019617": "pituitary deficiency due to empty sella turcica syndrome", "MONDO:0019618": "Sheehan syndrome", "MONDO:0019619": "duplication of the esophagus", "MONDO:0019620": "congenital esophageal diverticulum", "MONDO:0019621": "chronic pneumonitis of infancy", "MONDO:0019622": "non-specific interstitial pneumonia", "MONDO:0019623": "hereditary angioedema", "MONDO:0019624": "acquired angioedema", "MONDO:0019625": "familial thoracic aortic aneurysm and aortic dissection", "MONDO:0019626": "isolated ankyloblepharon filiforme adnatum", "MONDO:0019627": "isolated congenital alacrima", "MONDO:0019628": "Rieger anomaly", "MONDO:0019629": "sclerocornea (disease)", "MONDO:0019630": "congenital ectropion uveae", "MONDO:0019631": "persistent hyperplastic primary vitreous", "MONDO:0019632": "Lyme disease", "MONDO:0019633": "relapsing fever", "MONDO:0019634": "familial nasal acilia", "MONDO:0019635": "idiopathic achalasia", "MONDO:0019636": "renal agenesis, unilateral", "MONDO:0019637": "renal hypoplasia (disease)", "MONDO:0019638": "renal dysplasia (disease)", "MONDO:0019639": "congenital megacalycosis", "MONDO:0019640": "posterior urethral valve", "MONDO:0019641": "pauci-immune glomerulonephritis", "MONDO:0019642": "vitamin D-dependent rickets, type 2", "MONDO:0019643": "transient pseudohypoaldosteronism", "MONDO:0019644": "renal dysplasia, unilateral", "MONDO:0019645": "renal dysplasia, bilateral", "MONDO:0019646": "unilateral congenital megacalycosis", "MONDO:0019647": "congenital bilateral megacalycosis", "MONDO:0019648": "achondrogenesis", "MONDO:0019649": "idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis", "MONDO:0019650": "idiopathic steroid-sensitive nephrotic syndrome with minimal change", "MONDO:0019651": "idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation", "MONDO:0019652": "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation", "MONDO:0019653": "familial idiopathic steroid-resistant nephrotic syndrome with minimal changes", "MONDO:0019654": "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "MONDO:0019655": "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "MONDO:0019656": "sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "MONDO:0019657": "sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes", "MONDO:0019658": "sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation", "MONDO:0019659": "Pfeiffer syndrome type 1", "MONDO:0019660": "Pfeiffer syndrome type 2", "MONDO:0019661": "Pfeiffer syndrome type 3", "MONDO:0019662": "short rib-polydactyly syndrome, Majewski type", "MONDO:0019665": "monostotic fibrous dysplasia (disease)", "MONDO:0019666": "spondyloepimetaphyseal dysplasia, PAPSS2 type", "MONDO:0019667": "spondyloepiphyseal dysplasia tarda", "MONDO:0019668": "adenoma of pancreas", "MONDO:0019669": "hypochondrogenesis", "MONDO:0019670": "ulnar hemimelia", "MONDO:0019671": "radial hemimelia", "MONDO:0019672": "fibular hemimelia", "MONDO:0019673": "postaxial polydactyly type A (disease)", "MONDO:0019674": "postaxial polydactyly type B", "MONDO:0019675": "spondyloepimetaphyseal dysplasia with joint laxity", "MONDO:0019676": "brachydactyly type B", "MONDO:0019677": "brachydactyly type E", "MONDO:0019678": "brachydactyly type A5", "MONDO:0019679": "brachydactyly type A7", "MONDO:0019680": "genochondromatosis type 2", "MONDO:0019681": "juvenile sialidosis type 2", "MONDO:0019682": "congenital sialidosis type 2", "MONDO:0019684": "obsolete rare bone disease", "MONDO:0019685": "FGFR3-related chondrodysplasia", "MONDO:0019688": "sulfation-related bone disorder", "MONDO:0019689": "perlecan-related bone disorder", "MONDO:0019690": "filamin-related bone disorder", "MONDO:0019691": "short rib dysplasia", "MONDO:0019692": "multiple epiphyseal dysplasia and pseudoachondroplasia", "MONDO:0019693": "multiple metaphyseal dysplasia", "MONDO:0019694": "spondylodysplastic dysplasia", "MONDO:0019695": "acromelic dysplasia", "MONDO:0019696": "acromesomelic dysplasia", "MONDO:0019697": "mesomelic and rhizo-mesomelic dysplasia", "MONDO:0019698": "bent bone dysplasia", "MONDO:0019699": "slender bone dysplasia", "MONDO:0019701": "chondrodysplasia punctata", "MONDO:0019702": "neonatal osteosclerotic dysplasia", "MONDO:0019704": "primary bone dysplasia with decreased bone density", "MONDO:0019705": "primary bone dysplasia with defective bone mineralization", "MONDO:0019707": "primary osteolysis", "MONDO:0019709": "cleidocranial dysplasia and isolated cranial ossification defect", "MONDO:0019711": "dysostosis with predominant vertebral and costal involvement", "MONDO:0019712": "patellar dysostosis", "MONDO:0019713": "non-syndromic limb reduction defect", "MONDO:0019714": "non-syndromic polydactyly, syndactyly and/or hyperphalangy", "MONDO:0019716": "overgrowth syndrome", "MONDO:0019717": "chromosomal disease with overgrowth", "MONDO:0019718": "lethal chondrodysplasia", "MONDO:0019719": "congenital anomaly of kidney and urinary tract", "MONDO:0019720": "non-syndromic renal or urinary tract malformation", "MONDO:0019721": "syndromic renal or urinary tract malformation", "MONDO:0019722": "glomerular disease", "MONDO:0019723": "disease of glomerular basement membrane", "MONDO:0019724": "secondary glomerular disease", "MONDO:0019725": "pediatric systemic lupus erythematosus", "MONDO:0019726": "type II mixed cryoglobulinemia", "MONDO:0019727": "mixed cryoglobulinemia type III", "MONDO:0019728": "heavy chain deposition disease", "MONDO:0019729": "light and heavy chain deposition disease", "MONDO:0019730": "light chain deposition disease", "MONDO:0019731": "AApoAI amyloidosis", "MONDO:0019732": "ALys amyloidosis", "MONDO:0019733": "AFib amyloidosis", "MONDO:0019734": "juvenile polymyositis", "MONDO:0019735": "polymyalgia rheumatica", "MONDO:0019736": "dense deposit disease", "MONDO:0019737": "thrombotic microangiopathy", "MONDO:0019738": "atypical hemolytic-uremic syndrome with H factor anomaly", "MONDO:0019739": "atypical hemolytic-uremic syndrome with anti-factor H antibodies", "MONDO:0019740": "acquired thrombotic thrombocytopenic purpura", "MONDO:0019741": "familial cystic renal disease", "MONDO:0019742": "late-onset nephronophthisis", "MONDO:0019743": "nephropathy secondary to a storage or other metabolic disease", "MONDO:0019744": "rare renal tubular disease", "MONDO:0019745": "cystinuria type A", "MONDO:0019746": "cystinuria type B", "MONDO:0019747": "hematological disorder with renal involvement", "MONDO:0019748": "rare cause of hypertension", "MONDO:0019749": "obsolete rare renal tumor", "MONDO:0019750": "obsolete rare renal disease", "MONDO:0019751": "autoinflammatory syndrome", "MONDO:0019752": "pediatric Castleman disease", "MONDO:0019753": "localized Castleman disease", "MONDO:0019754": "multicentric Castleman disease", "MONDO:0019755": "developmental defect during embryogenesis", "MONDO:0019756": "lobar holoprosencephaly", "MONDO:0019757": "alobar holoprosencephaly", "MONDO:0019758": "midline interhemispheric variant of holoprosencephaly", "MONDO:0019759": "epispadias (disease)", "MONDO:0019760": "terminal transverse defects of arm", "MONDO:0019761": "laryngotracheoesophageal cleft type 1", "MONDO:0019762": "laryngotracheoesophageal cleft type 2", "MONDO:0019763": "laryngotracheoesophageal cleft type 3", "MONDO:0019764": "laryngotracheoesophageal cleft type 4", "MONDO:0019765": "Celosomia", "MONDO:0019766": "X-linked intellectual disability, Porteous type", "MONDO:0019767": "hamel cerebro-palato-cardiac syndrome", "MONDO:0019768": "X-linked intellectual disability, Golabi-Ito-hall type", "MONDO:0019769": "X-linked intellectual disability, Sutherland-Haan type", "MONDO:0019770": "X-linked dominant intellectual disability-epilepsy syndrome", "MONDO:0019771": "oromandibular dystonia", "MONDO:0019772": "blepharospasm-oromandibular dystonia syndrome", "MONDO:0019773": "myelomeningocele", "MONDO:0019779": "Renier-Gabreels-Jasper syndrome", "MONDO:0019780": "anotia", "MONDO:0019782": "humero-ulnar synostosis", "MONDO:0019783": "neovascular glaucoma", "MONDO:0019784": "12q14 microdeletion syndrome", "MONDO:0019786": "severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia", "MONDO:0019787": "autoimmune enteropathy", "MONDO:0019788": "non-secreting paraganglioma", "MONDO:0019789": "cytophagic histiocytic panniculitis", "MONDO:0019790": "neuroleptic malignant syndrome", "MONDO:0019791": "recessive mitochondrial ataxia syndrome", "MONDO:0019792": "autosomal dominant cerebellar ataxia type I", "MONDO:0019793": "autosomal dominant cerebellar ataxia type III", "MONDO:0019794": "autosomal dominant cerebellar ataxia type IV", "MONDO:0019795": "acalvaria", "MONDO:0019796": "acrocephalosyndactyly", "MONDO:0019797": "acrodysostosis", "MONDO:0019799": "hepatoerythropoietic porphyria", "MONDO:0019800": "chronic hepatic porphyria", "MONDO:0019801": "acute adrenal insufficiency", "MONDO:0019802": "secondary short bowel syndrome", "MONDO:0019803": "angioma serpiginosum", "MONDO:0019804": "tracheomalacia", "MONDO:0019805": "twin to twin transfusion syndrome", "MONDO:0019806": "primary progressive aphasia", "MONDO:0019807": "mesocardia (disease)", "MONDO:0019808": "aortic valve atresia (disease)", "MONDO:0019809": "congenital aortic valve insufficiency", "MONDO:0019810": "toxic epidermal necrolysis", "MONDO:0019811": "tricuspid valve agenesis", "MONDO:0019813": "congenital tricuspid stenosis", "MONDO:0019814": "straddling or overriding tricuspid valve", "MONDO:0019815": "accessory tricuspid valve tissue", "MONDO:0019816": "anomaly of the tricuspid subvalvular apparatus", "MONDO:0019817": "congenital mitral valve insufficiency and/or stenosis", "MONDO:0019818": "cleft mitral valve", "MONDO:0019819": "double-orifice mitral valve", "MONDO:0019820": "univentricular cardiopathy", "MONDO:0019821": "aneurysm or dilatation of ascending aorta", "MONDO:0019822": "arterial duct anomaly", "MONDO:0019823": "premature closure of the arterial duct", "MONDO:0019824": "non-acquired pituitary hormone deficiency", "MONDO:0019825": "congenital coronary artery aneurysm", "MONDO:0019826": "abnormal origin or aberrant course of coronary artery", "MONDO:0019827": "disease associated with non-acquired combined pituitary hormone deficiency", "MONDO:0019828": "pituitary stalk interruption syndrome", "MONDO:0019829": "congenital anomaly of superior vena cava", "MONDO:0019830": "congenital anomaly of the inferior vena cava", "MONDO:0019831": "congenital anomaly of the coronary sinus", "MONDO:0019832": "acquired pituitary hormone deficiency", "MONDO:0019833": "pituitary hormone deficiency from tumoral origin", "MONDO:0019834": "pituitary hormone deficiency from meningeal origin", "MONDO:0019835": "primary hypophysitis", "MONDO:0019836": "congenital anomaly of hepatic vein", "MONDO:0019837": "atrial appendage anomaly", "MONDO:0019838": "adenohypophysitis", "MONDO:0019839": "panhypophysitis", "MONDO:0019840": "acropectororenal dysplasia", "MONDO:0019841": "pituitary hormone defiency from vascular origin", "MONDO:0019843": "pituitary hormone deficiency secondary to a granulomatous disease", "MONDO:0019844": "pituitary hormone deficiency secondary to storage disease", "MONDO:0019845": "iatrogenic or traumatic pituitary deficiency", "MONDO:0019846": "acquired central diabetes insipidus", "MONDO:0019847": "congenital adrenal hypoplasia of maternal cause", "MONDO:0019848": "posterior hypospadias", "MONDO:0019849": "isolated micropenis", "MONDO:0019851": "acquired primary ovarian failure", "MONDO:0019852": "inherited primary ovarian failure", "MONDO:0019853": "congenital hypothyroidism due to developmental anomaly", "MONDO:0019854": "thyroid ectopia", "MONDO:0019855": "athyreosis", "MONDO:0019856": "primary congenital hypothyroidism without thyroid developmental anomaly", "MONDO:0019857": "congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies", "MONDO:0019858": "idiopathic congenital hypothyroidism", "MONDO:0019859": "congenital thyroid malformation without hypothyroidism", "MONDO:0019860": "thyroid hemiagenesis", "MONDO:0019861": "thyroid hypoplasia", "MONDO:0019862": "levocardia", "MONDO:0019864": "tetrasomy 21", "MONDO:0019865": "mosaic trisomy 4", "MONDO:0019866": "mosaic trisomy 5", "MONDO:0019867": "mosaic trisomy 8", "MONDO:0019868": "mosaic trisomy 10", "MONDO:0019869": "mosaic trisomy 22", "MONDO:0019870": "distal trisomy 1p36", "MONDO:0019871": "distal trisomy 2p", "MONDO:0019872": "distal trisomy 3p", "MONDO:0019873": "4p16.3 microduplication syndrome", "MONDO:0019874": "distal trisomy 7p", "MONDO:0019875": "Beckwith-Wiedemann syndrome due to 11p15 microduplication", "MONDO:0019876": "8p inverted duplication/deletion syndrome", "MONDO:0019877": "distal trisomy 2q", "MONDO:0019878": "3q26 microduplication syndrome", "MONDO:0019879": "distal trisomy 4q", "MONDO:0019880": "distal trisomy 5q", "MONDO:0019881": "distal trisomy 6q", "MONDO:0019882": "distal trisomy 8q", "MONDO:0019883": "distal trisomy 9q", "MONDO:0019884": "distal trisomy 10q", "MONDO:0019885": "distal trisomy 11q", "MONDO:0019886": "distal trisomy 13q", "MONDO:0019887": "distal trisomy 16q", "MONDO:0019888": "distal trisomy 20q", "MONDO:0019889": "distal trisomy 22q", "MONDO:0019890": "non-distal trisomy 9q", "MONDO:0019891": "monosomy 22", "MONDO:0019892": "distal monosomy 7p", "MONDO:0019893": "distal monosomy 19p13.3", "MONDO:0019894": "non-distal monosomy 7p", "MONDO:0019895": "distal monosomy 4q", "MONDO:0019896": "Kleefstra syndrome due to 9q34 microdeletion", "MONDO:0019897": "distal monosomy 12q", "MONDO:0019898": "distal monosomy 14q", "MONDO:0019899": "distal monosomy 20q", "MONDO:0019900": "non-distal monosomy 12q", "MONDO:0019901": "non-distal monosomy 20q", "MONDO:0019902": "monosomy 13q34", "MONDO:0019903": "ring chromosome 2", "MONDO:0019904": "ring chromosome 3", "MONDO:0019905": "ring chromosome 9", "MONDO:0019906": "ring chromosome 11", "MONDO:0019907": "ring chromosome 13", "MONDO:0019908": "ring chromosome 15", "MONDO:0019909": "ring chromosome 16", "MONDO:0019910": "maternal uniparental disomy of chromosome 2", "MONDO:0019911": "maternal uniparental disomy of chromosome 4", "MONDO:0019912": "maternal uniparental disomy of chromosome 6", "MONDO:0019913": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7", "MONDO:0019914": "maternal uniparental disomy of chromosome 9", "MONDO:0019915": "maternal uniparental disomy of chromosome 14", "MONDO:0019916": "maternal uniparental disomy of chromosome 16", "MONDO:0019917": "maternal uniparental disomy of chromosome 20", "MONDO:0019918": "maternal uniparental disomy of chromosome 21", "MONDO:0019919": "maternal uniparental disomy of chromosome 22", "MONDO:0019920": "paternal uniparental disomy of chromosome 5", "MONDO:0019921": "paternal uniparental disomy of chromosome 6", "MONDO:0019922": "paternal uniparental disomy of chromosome 7", "MONDO:0019923": "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11", "MONDO:0019924": "paternal uniparental disomy of chromosome 20", "MONDO:0019925": "paternal uniparental disomy of chromosome 21", "MONDO:0019926": "X small rings", "MONDO:0019928": "48,XXXY syndrome", "MONDO:0019929": "49,XXXXY syndrome", "MONDO:0019930": "Leydig cell hypoplasia due to complete LH resistance", "MONDO:0019931": "Leydig cell hypoplasia due to partial LH resistance", "MONDO:0019932": "isolated partial vaginal agenesis", "MONDO:0019933": "acromegaly", "MONDO:0019934": "polyploidy", "MONDO:0019935": "isochromosome Y", "MONDO:0019936": "rare otorhinolaryngological malformation", "MONDO:0019937": "rare gynecologic or obstetric disease", "MONDO:0019938": "anorectal malformation", "MONDO:0019939": "early-onset schizophrenia", "MONDO:0019940": "hypertrichosis-acromegaloid facial appearance syndrome", "MONDO:0019941": "hereditary sensory and autonomic neuropathy type 2", "MONDO:0019942": "distal arthrogryposis", "MONDO:0019943": "hereditary continuous muscle fiber activity", "MONDO:0019944": "Eisenmenger syndrome", "MONDO:0019945": "solar urticaria", "MONDO:0019947": "rippling muscle disease 2", "MONDO:0019948": "reducing body myopathy", "MONDO:0019949": "zebra body myopathy", "MONDO:0019950": "congenital muscular dystrophy", "MONDO:0019951": "rigid spine syndrome", "MONDO:0019952": "congenital myopathy", "MONDO:0019953": "mega-cisterna magna", "MONDO:0019954": "pancreatic neuroendocrine tumor", "MONDO:0019955": "GRFoma", "MONDO:0019956": "encephalitis", "MONDO:0019957": "PPoma", "MONDO:0019959": "glucagonoma", "MONDO:0019960": "VIPoma", "MONDO:0019962": "thyroid lymphoma", "MONDO:0019963": "bronchial endocrine tumor", "MONDO:0019964": "thymic neuroendocrine tumor", "MONDO:0019965": "obsolete rare benign ovarian tumor", "MONDO:0019967": "Kienbock disease", "MONDO:0019969": "panner disease", "MONDO:0019970": "Sinding-Larsen-Johansson disease", "MONDO:0019971": "melanoma of soft tissue", "MONDO:0019972": "dural sinus malformation", "MONDO:0019973": "persistent placoid maculopathy", "MONDO:0019975": "pellagra", "MONDO:0019976": "dementia pugilistica", "MONDO:0019977": "parkinsonism with dementia of Guadeloupe", "MONDO:0019978": "Robinow syndrome", "MONDO:0019979": "renal hypoplasia, unilateral", "MONDO:0019980": "renal hypoplasia, bilateral", "MONDO:0019981": "unilateral multicystic dysplastic kidney", "MONDO:0019982": "bilateral multicystic dysplastic kidney", "MONDO:0019983": "multiloculated renal cyst", "MONDO:0019984": "renal tubular dysgenesis due to twin-twin transfusion", "MONDO:0019985": "drug-related renal tubular dysgenesis", "MONDO:0019986": "sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy", "MONDO:0019987": "congenital and infantile nephrotic syndrome", "MONDO:0019988": "pauci-immune glomerulonephritis with ANCA", "MONDO:0019989": "pauci-immune glomerulonephritis without ANCA", "MONDO:0019990": "non-amyloid fibrillary glomerulopathy", "MONDO:0019991": "immunotactoid glomerulopathy", "MONDO:0019992": "pseudohypoparathyroidism", "MONDO:0019993": "congenital renal artery stenosis", "MONDO:0019994": "maternal uniparental disomy of chromosome 13", "MONDO:0019995": "peripheral resistance to thyroid hormones", "MONDO:0019996": "obsolete rare cardiac disease", "MONDO:0019997": "obsolete rare gastroenterologic disease", "MONDO:0019998": "gastroduodenal malformation", "MONDO:0019999": "intestinal malformation", "MONDO:0020000": "obsolete rare respiratory disease", "MONDO:0020001": "respiratory or thoracic malformation", "MONDO:0020002": "obsolete rare surgical thoracic disease", "MONDO:0020003": "obsolete rare surgical cardiac disease", "MONDO:0020004": "obsolete rare eye disease", "MONDO:0020005": "obsolete rare endocrine disease", "MONDO:0020007": "absence of the pulmonary artery", "MONDO:0020008": "obsolete rare immune disease", "MONDO:0020009": "obsolete rare neurologic disease", "MONDO:0020010": "infectious disease of the nervous system", "MONDO:0020011": "obsolete rare headache disorder", "MONDO:0020013": "rare odontologic disease", "MONDO:0020014": "rare disease with odontological manifestation", "MONDO:0020015": "obsolete rare circulatory system disease", "MONDO:0020016": "rare neurologic disease with psychiatric involvement", "MONDO:0020017": "obsolete rare otorhinolaryngologic disease", "MONDO:0020018": "cranial malformation", "MONDO:0020019": "digestive tract malformation", "MONDO:0020020": "visceral malformation of the liver, biliary tract, pancreas or spleen", "MONDO:0020021": "diaphragmatic or abdominal wall malformation", "MONDO:0020022": "central nervous system malformation", "MONDO:0020023": "respiratory or mediastinal malformation", "MONDO:0020024": "obsolete rare infertility", "MONDO:0020025": "obsolete rare male infertility", "MONDO:0020026": "obsolete rare female infertility", "MONDO:0020027": "obsolete rare allergic disease", "MONDO:0020028": "obsolete rare allergic respiratory disease", "MONDO:0020029": "obsolete rare genetic cardiac disease", "MONDO:0020030": "obsolete rare genetic renal disease", "MONDO:0020031": "obsolete rare tumor", "MONDO:0020032": "obsolete rare urinary tract tumor", "MONDO:0020033": "obsolete rare digestive tumor", "MONDO:0020034": "obsolete rare respiratory tract neoplasm", "MONDO:0020035": "rare otorhinolaryngologic tumor", "MONDO:0020036": "obsolete rare nervous system tumor", "MONDO:0020037": "obsolete rare gynecological tumor", "MONDO:0020038": "gonadal dysgenesis of gynecological interest", "MONDO:0020039": "46,XX disorder of sex development induced by androgens excess", "MONDO:0020040": "46,XY disorder of sex development", "MONDO:0020041": "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue", "MONDO:0020042": "syndrome with 46,XY disorder of sex development", "MONDO:0020043": "autosomal recessive congenital cerebellar ataxia", "MONDO:0020044": "autosomal recessive metabolic cerebellar ataxia", "MONDO:0020045": "autosomal recessive cerebellar ataxia due to a DNA repair defect", "MONDO:0020046": "autosomal recessive degenerative and progressive cerebellar ataxia", "MONDO:0020047": "autosomal recessive syndromic cerebellar ataxia", "MONDO:0020048": "internal carotid agenesis", "MONDO:0020049": "autosomal anomaly", "MONDO:0020050": "autosomal trisomy", "MONDO:0020051": "total autosomal trisomy", "MONDO:0020052": "partial autosomal trisomy/tetrasomy", "MONDO:0020053": "total autosomal monosomy", "MONDO:0020054": "partial autosomal monosomy", "MONDO:0020055": "autosomal uniparental disomy", "MONDO:0020056": "uniparental disomy of maternal origin", "MONDO:0020057": "uniparental disomy of paternal origin", "MONDO:0020058": "gonosome anomaly", "MONDO:0020059": "gonosome number anomaly", "MONDO:0020060": "gonosome structural anomaly", "MONDO:0020061": "chromosome Y structural anomaly", "MONDO:0020062": "chromosome X structural anomaly", "MONDO:0020063": "malformation syndrome with hamartosis", "MONDO:0020064": "pulmonary valve agenesis", "MONDO:0020065": "combined dystonia", "MONDO:0020066": "Ehlers-Danlos syndrome", "MONDO:0020068": "postinfectious encephalitis", "MONDO:0020069": "chronic encephalitis", "MONDO:0020070": "neonatal epilepsy syndrome", "MONDO:0020071": "infantile epilepsy syndrome", "MONDO:0020072": "childhood-onset epilepsy syndrome", "MONDO:0020073": "adolescent-onset epilepsy syndrome", "MONDO:0020074": "progressive myoclonic epilepsy", "MONDO:0020075": "genetic non-syndromic obesity", "MONDO:0020076": "myeloproliferative neoplasm", "MONDO:0020077": "myelodysplastic/myeloproliferative disease", "MONDO:0020078": "acute myeloid leukemia with recurrent genetic anomaly", "MONDO:0020081": "macrophage or histiocytic tumor", "MONDO:0020082": "dendritic cell tumor", "MONDO:0020083": "immunodeficiency-associated lymphoproliferative disease", "MONDO:0020084": "lymphoproliferative disease associated with primary immune disease", "MONDO:0020087": "genetic lipodystrophy", "MONDO:0020088": "familial partial lipodystrophy", "MONDO:0020089": "acquired lipodystrophy", "MONDO:0020090": "male infertility due to gonadal dysgenesis", "MONDO:0020091": "male infertility due to obstructive azoospermia", "MONDO:0020092": "rare idiopathic male infertility", "MONDO:0020093": "autosomal dominant isolated diffuse palmoplantar keratoderma", "MONDO:0020094": "autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature", "MONDO:0020095": "autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature", "MONDO:0020096": "autosomal recessive isolated diffuse palmoplantar keratoderma", "MONDO:0020097": "autosomal recessive disease with focal palmoplantar keratoderma as a major feature", "MONDO:0020098": "constitutional anemia due to iron metabolism disorder", "MONDO:0020099": "constitutional sideroblastic anemia", "MONDO:0020100": "obsolete rare hemolytic anemia", "MONDO:0020101": "constitutional hemolytic anemia due to membrane defect", "MONDO:0020102": "hereditary stomatocytosis", "MONDO:0020103": "constitutional hemolytic anemia due to acanthocytosis", "MONDO:0020104": "rare constitutional hemolytic anemia due to an enzyme disorder", "MONDO:0020105": "hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies", "MONDO:0020106": "hemolytic anemia due to a disorder of glycolytic enzymes", "MONDO:0020107": "hemolytic anemia due to an erythrocyte nucleotide metabolism disorder", "MONDO:0020108": "autoimmune hemolytic anemia", "MONDO:0020109": "constitutional megaloblastic anemia due to vitamin B12 metabolism disorder", "MONDO:0020110": "pulmonary agenesis", "MONDO:0020111": "constitutional megaloblastic anemia due to folate metabolism disorder", "MONDO:0020112": "vitamin B12- and folate-independent constitutional megaloblastic anemia", "MONDO:0020113": "red cell aplasia", "MONDO:0020115": "secondary polycythemia", "MONDO:0020116": "obsolete rare blood coagulation disease", "MONDO:0020117": "alpha granule disease", "MONDO:0020118": "dense granule disease", "MONDO:0020119": "X-linked syndromic intellectual disability", "MONDO:0020120": "skeletal muscle disease", "MONDO:0020121": "muscular dystrophy", "MONDO:0020122": "idiopathic inflammatory myopathy", "MONDO:0020123": "metabolic myopathy", "MONDO:0020124": "neuromuscular junction disease", "MONDO:0020125": "acquired neuromuscular junction disease", "MONDO:0020126": "obsolete rare peripheral neuropathy", "MONDO:0020127": "genetic peripheral neuropathy", "MONDO:0020128": "motor neuron disease", "MONDO:0020129": "acquired motor neuron disease", "MONDO:0020130": "malformation of the cerebellar vermis", "MONDO:0020131": "malformation of the cerebellar hemispheres", "MONDO:0020132": "cranial nerve and nuclear aplasia", "MONDO:0020133": "posterior fossa malformation", "MONDO:0020134": "cystic malformation of the posterior fossa", "MONDO:0020135": "non-syndromic pontocerebellar hypoplasia", "MONDO:0020136": "neurodegenerative disease with dementia", "MONDO:0020137": "frontotemporal degeneration with dementia", "MONDO:0020138": "ataxia with dementia", "MONDO:0020139": "early-onset ataxia with dementia", "MONDO:0020140": "late-onset ataxia with dementia", "MONDO:0020141": "infectious disease with dementia", "MONDO:0020142": "metabolic disease with dementia", "MONDO:0020143": "cerebral lipidosis with dementia", "MONDO:0020144": "cerebrovascular dementia", "MONDO:0020145": "developmental defect of the eye", "MONDO:0020146": "major induction processes eye anomaly", "MONDO:0020147": "anophthalmia-microphthalmia syndrome", "MONDO:0020148": "syndromic aniridia", "MONDO:0020149": "rare eye disease due to a differentiation anomaly", "MONDO:0020150": "rare palpebral, lacrimal system and conjunctival disease", "MONDO:0020151": "obsolete rare palpebral disease", "MONDO:0020152": "rare eyelid malformation", "MONDO:0020153": "cryptophthalmia", "MONDO:0020154": "microblepharon-ablephara syndrome", "MONDO:0020155": "eyelid border anomaly", "MONDO:0020156": "syndromic ankyloblepharon", "MONDO:0020157": "syndromic palpebral coloboma", "MONDO:0020158": "eyelids malposition disorder", "MONDO:0020159": "congenital entropion", "MONDO:0020160": "secondary entropion", "MONDO:0020161": "congenital ectropion", "MONDO:0020162": "secondary ectropion", "MONDO:0020163": "canthal anomaly", "MONDO:0020164": "epicanthal fold", "MONDO:0020165": "syndromic epicanthus", "MONDO:0020167": "malposition of external canthus", "MONDO:0020168": "kinetic eyelid anomaly", "MONDO:0020169": "rare disorder with ptosis", "MONDO:0020170": "congenital upper palpebral retraction", "MONDO:0020172": "palpebral epidermal tumor", "MONDO:0020173": "benign tumor of palpebral epidermis", "MONDO:0020174": "precancerous lesion of palpebral epidermis", "MONDO:0020176": "palpebral sebaceous gland tumor", "MONDO:0020177": "pigmented palpebral tumor", "MONDO:0020178": "palpebral lentiginosis", "MONDO:0020179": "palpebral nevus", "MONDO:0020180": "palpebral piliary tumor", "MONDO:0020181": "mesenchymatous palpebral tumor", "MONDO:0020182": "palpebral tumor with a vascular malformation", "MONDO:0020183": "neurogenic palpebral tumor", "MONDO:0020184": "rare eyebrow/eyelashes anomaly", "MONDO:0020185": "eyebrow/eyelashes hypertrichosis", "MONDO:0020186": "eyebrow hypertrophy", "MONDO:0020187": "eyelashes hypertrophy", "MONDO:0020188": "congenital absence of the eyebrow/eyelashes", "MONDO:0020189": "eyebrow/eyelashes structural anomaly", "MONDO:0020190": "eyebrow/eyelashes distichiasis", "MONDO:0020191": "eyebrow/eyelashes pigmentation anomaly", "MONDO:0020192": "obsolete rare lacrimal system disease", "MONDO:0020193": "secretory apparatus of the lacrimal system anomaly", "MONDO:0020194": "congenital alacrima", "MONDO:0020195": "excretory apparatus of the lacrimal system anomaly", "MONDO:0020196": "anomaly of the secretory and excretory apparatus of the lacrimal system", "MONDO:0020197": "EEC syndrome and related syndrome", "MONDO:0020198": "obsolete rare conjunctival disease", "MONDO:0020199": "conjunctival vascular anomaly", "MONDO:0020200": "conjunctival hemangioma or hemolymphangioma", "MONDO:0020201": "conjunctival telangiectasia (disease)", "MONDO:0020202": "conjunctival lymphangiectasia", "MONDO:0020203": "pigmented conjunctival lesion", "MONDO:0020204": "conjunctival tumor", "MONDO:0020205": "bulbar conjunctival dermoid or conjunctival dermolipoma", "MONDO:0020206": "rare refraction anomaly", "MONDO:0020207": "obsolete rare isolated myopia", "MONDO:0020208": "syndromic myopia", "MONDO:0020209": "rare hyperopia and astigmatism", "MONDO:0020210": "syndromic hyperopia", "MONDO:0020211": "syndromic keratoconus", "MONDO:0020212": "superficial corneal dystrophy", "MONDO:0020213": "stromal corneal dystrophy", "MONDO:0020214": "posterior corneal dystrophy", "MONDO:0020215": "syndromic corneal dystrophy", "MONDO:0020216": "secondary dysgenetic glaucoma", "MONDO:0020217": "secondary dysgenetic glaucoma associated with neural crest cell migration anomaly", "MONDO:0020218": "goniodysgenesis", "MONDO:0020219": "corneogoniodysgenesis", "MONDO:0020220": "corneoiridogoniodysgenesis", "MONDO:0020221": "secondary glaucoma due to a proliferation and differentiation anomaly", "MONDO:0020222": "rare disease with glaucoma as a major feature", "MONDO:0020223": "lens and zonula anomaly", "MONDO:0020224": "obsolete rare cataract", "MONDO:0020225": "syndromic cataract", "MONDO:0020226": "chromosomal anomaly with cataract", "MONDO:0020227": "systemic disease with cataract", "MONDO:0020228": "cataract associated with a metabolic disease", "MONDO:0020229": "cerebral disease with cataract", "MONDO:0020230": "renal disease with cataract", "MONDO:0020231": "cardiac disease with cataract", "MONDO:0020232": "musculoskeletal disease with cataract", "MONDO:0020233": "dentocutaneous disease with cataract", "MONDO:0020234": "craniofacial anomaly with cataract", "MONDO:0020235": "lens size anomaly", "MONDO:0020236": "lens position anomaly", "MONDO:0020237": "lens shape anomaly", "MONDO:0020238": "inherited vitreous-retinal disease", "MONDO:0020240": "syndromic retinitis pigmentosa", "MONDO:0020241": "unclassified familial retinal dystrophy", "MONDO:0020242": "genetic macular dystrophy", "MONDO:0020243": "colobomatous and areolar dystrophy", "MONDO:0020244": "unclassified primitive or secondary maculopathy", "MONDO:0020245": "disease predisposing to age-related macular degeneration", "MONDO:0020246": "inherited vitreoretinopathy", "MONDO:0020247": "congenital vitreoretinal dysplasia", "MONDO:0020248": "vitreoretinal degeneration", "MONDO:0020249": "hereditary optic neuropathy", "MONDO:0020250": "autosomal dominant optic atrophy", "MONDO:0020251": "rare strabismus and restriction syndrome", "MONDO:0020252": "essential strabismus", "MONDO:0020253": "syndrome with a symptomatic strabismus", "MONDO:0020254": "craniostenosis associated with a strabismus", "MONDO:0020256": "congenital trochlear nerve palsy", "MONDO:0020257": "supranuclear oculomotor palsy", "MONDO:0020258": "oculomotor apraxia or related oculomotor disease", "MONDO:0020259": "myopathy with eye involvement", "MONDO:0020260": "obsolete myasthenic syndrome with eye involvement", "MONDO:0020261": "neurological disease with abnormal eye movements", "MONDO:0020262": "nervous system anomaly with eye involvement", "MONDO:0020263": "spinocerebellar ataxia with oculomotor anomaly", "MONDO:0020264": "spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly", "MONDO:0020265": "mitochondrial disease with eye involvement", "MONDO:0020266": "genodermatosis with ocular features", "MONDO:0020267": "genetic keratinization disorder associated with ocular features", "MONDO:0020268": "ichthyosis associated with ocular features", "MONDO:0020269": "syndromic ichthyosis associated with ocular features", "MONDO:0020270": "pigmentation disorder with eye involvement", "MONDO:0020271": "phakomatosis with eye involvement", "MONDO:0020273": "disease with potential neoplastic degeneration associated with ocular features", "MONDO:0020274": "onycho-patellar syndrome with eye involvement", "MONDO:0020275": "oculocutaneous or ocular albinism", "MONDO:0020276": "pigmentation disorder with eye involvement, excluding albinism", "MONDO:0020278": "metabolic disease associated with ocular features", "MONDO:0020279": "metabolic disease with corneal opacity", "MONDO:0020280": "metabolic disease with cataract", "MONDO:0020281": "metabolic disease with pigmentary retinitis", "MONDO:0020282": "metabolic disease with macular cherry-red spot", "MONDO:0020283": "uveitis (disease)", "MONDO:0020284": "heart position anomaly", "MONDO:0020285": "transposition of the great arteries and conotruncal cardiac anomaly", "MONDO:0020286": "aortic malformation", "MONDO:0020287": "pulmonary artery or pulmonary branch anomaly", "MONDO:0020288": "atrioventricular valve anomaly", "MONDO:0020289": "congenital tricuspid malformation", "MONDO:0020290": "atrioventricular septal defect", "MONDO:0020291": "hypoplastic right heart syndrome", "MONDO:0020292": "congenital anomaly of the great arteries", "MONDO:0020293": "ascending aorta anomaly", "MONDO:0020294": "atrial defect and interatrial communication", "MONDO:0020295": "congenital pulmonary veins anomaly", "MONDO:0020296": "congenital arteriovenous fistula", "MONDO:0020297": "Noonan syndrome and Noonan-related syndrome", "MONDO:0020298": "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15", "MONDO:0020300": "autosomal dominant nocturnal frontal lobe epilepsy", "MONDO:0020301": "Prader-Willi syndrome due to paternal 15q11q13 deletion", "MONDO:0020302": "Angelman syndrome due to maternal 15q11q13 deletion", "MONDO:0020303": "Angelman syndrome due to paternal uniparental disomy of chromosome 15", "MONDO:0020304": "isochromosomy Yp", "MONDO:0020305": "isochromosomy Yq", "MONDO:0020307": "benign childhood occipital epilepsy, Panayiotopoulos type", "MONDO:0020308": "benign childhood occipital epilepsy, Gastaut type", "MONDO:0020310": "familial focal epilepsy with variable foci", "MONDO:0020311": "chronic myelomonocytic leukemia", "MONDO:0020313": "unclassified myelodysplastic/myeloproliferative disease", "MONDO:0020315": "unclassified myelodysplastic syndrome", "MONDO:0020316": "acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)", "MONDO:0020317": "acute myeloid leukemia with 11q23 abnormalities", "MONDO:0020320": "acute myeloblastic leukemia with maturation", "MONDO:0020321": "acute undifferentiated leukemia", "MONDO:0020322": "acute biphenotypic leukemia", "MONDO:0020323": "primary mediastinal large B-cell lymphoma", "MONDO:0020324": "intravascular large B-cell lymphoma", "MONDO:0020325": "anaplastic large cell lymphoma", "MONDO:0020326": "lymphomatoid papulosis", "MONDO:0020331": "indolent systemic mastocytosis", "MONDO:0020332": "systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease", "MONDO:0020333": "aggressive systemic mastocytosis", "MONDO:0020334": "mast cell leukemia", "MONDO:0020336": "autosomal dominant Emery-Dreifuss muscular dystrophy", "MONDO:0020337": "congenital dyserythropoietic anemia type 1", "MONDO:0020338": "adult pure red cell aplasia", "MONDO:0020339": "X-linked complex spastic paraplegia", "MONDO:0020340": "bilateral perisylvian polymicrogyria", "MONDO:0020341": "periventricular nodular heterotopia", "MONDO:0020343": "alpha-crystallinopathy", "MONDO:0020344": "postsynaptic congenital myasthenic syndrome", "MONDO:0020345": "presynaptic congenital myasthenic syndrome", "MONDO:0020346": "synaptic congenital myasthenic syndrome", "MONDO:0020347": "acute inflammatory demyelinating polyradiculoneuropathy", "MONDO:0020348": "acute motor and sensory axonal neuropathy", "MONDO:0020349": "acute motor axonal neuropathy", "MONDO:0020351": "Blake pouch cyst", "MONDO:0020352": "multiple system atrophy, parkinsonian type", "MONDO:0020353": "von Hippel anomaly", "MONDO:0020354": "coloboma of choroid and retina", "MONDO:0020355": "coloboma of eye lens", "MONDO:0020356": "coloboma of iris (disease)", "MONDO:0020357": "coloboma of eyelid", "MONDO:0020359": "congenital symblepharon", "MONDO:0020360": "complete cryptophthalmia", "MONDO:0020361": "partial cryptophthalmia", "MONDO:0020362": "inverse Marcus-Gunn phenomenon", "MONDO:0020363": "honey-droplet corneal dystrophy", "MONDO:0020364": "posterior polymorphous corneal dystrophy", "MONDO:0020365": "congenital hereditary endothelial dystrophy type I", "MONDO:0020367": "juvenile open angle glaucoma", "MONDO:0020368": "Axenfeld anomaly", "MONDO:0020369": "Chandler syndrome", "MONDO:0020370": "Cogan-Reese syndrome", "MONDO:0020371": "essential iris atrophy", "MONDO:0020372": "early-onset sutural cataract", "MONDO:0020373": "early-onset anterior polar cataract", "MONDO:0020374": "cerulean cataract", "MONDO:0020375": "coralliform cataract", "MONDO:0020376": "early-onset nuclear cataract", "MONDO:0020377": "early-onset partial cataract", "MONDO:0020378": "early-onset posterior polar cataract", "MONDO:0020379": "early-onset zonular cataract", "MONDO:0020380": "autosomal dominant cerebellar ataxia", "MONDO:0020382": "multifocal pattern dystrophy simulating fundus flavimaculatus", "MONDO:0020383": "fundus pulverulentus", "MONDO:0020384": "Niemann-Pick disease type E", "MONDO:0020385": "congenitally uncorrected transposition of the great arteries with coarctation", "MONDO:0020386": "double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis", "MONDO:0020387": "double outlet right ventricle with subpulmonary ventricular septal defect", "MONDO:0020388": "double outlet right ventricle with non-committed subpulmonary ventricular septal defect", "MONDO:0020389": "pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome", "MONDO:0020390": "pulmonary artery coming from patent ductus arteriosus", "MONDO:0020391": "pulmonary artery coming from the aorta", "MONDO:0020392": "discrete fixed membranous subaortic stenosis", "MONDO:0020393": "discrete fibromuscular subaortic stenosis", "MONDO:0020394": "tunnel subaortic stenosis", "MONDO:0020395": "valvular pulmonary stenosis", "MONDO:0020396": "anomaly of the tricuspid valve chordae", "MONDO:0020397": "parachute tricuspid valve", "MONDO:0020398": "congenital mitral stenosis (disease)", "MONDO:0020399": "congenital hypoplasia of the mitral valve annulus", "MONDO:0020400": "congenital supravalvular mitral ring", "MONDO:0020401": "congenital unguarded mitral orifice", "MONDO:0020402": "congenital accessory mitral valve tissue", "MONDO:0020403": "congenital mitral valve agenesis", "MONDO:0020404": "shone complex", "MONDO:0020405": "straddling and/or overriding mitral valve", "MONDO:0020406": "complete atrioventricular canal-left heart obstruction syndrome", "MONDO:0020407": "complete atrioventricular canal-ventricle hypoplasia syndrome", "MONDO:0020408": "complete atrioventricular canal-tetralogy of fallot syndrome", "MONDO:0020409": "univentricular heart with single atrio-ventricular valve", "MONDO:0020410": "aorto-right ventricular tunnel", "MONDO:0020411": "aorto-left ventricular tunnel", "MONDO:0020412": "congenital patent ductus arteriosus aneurysm", "MONDO:0020413": "encircling double aortic arch", "MONDO:0020414": "persistent fifth aortic arch", "MONDO:0020415": "Kommerell diverticulum", "MONDO:0020416": "Neuhauser anomaly", "MONDO:0020417": "right aortic arch (disease)", "MONDO:0020418": "dysphagia lusoria", "MONDO:0020419": "pulmonary artery hypoplasia (disease)", "MONDO:0020420": "pulmonary branch stenosis", "MONDO:0020421": "coronary artery intramyocardial course", "MONDO:0020422": "aortopulmonary coronary arterial course", "MONDO:0020423": "stenosis or atrophy of the coronary ostium", "MONDO:0020424": "intramural coronary arterial course", "MONDO:0020425": "abnormal number of coronary ostia", "MONDO:0020426": "malposition of the coronary ostium", "MONDO:0020427": "Laubry-Pezzi syndrome", "MONDO:0020428": "congenital Gerbode defect", "MONDO:0020429": "cor triatriatum dexter (disease)", "MONDO:0020430": "cor triatriatum sinister", "MONDO:0020431": "juxtaposition of the atrial appendages", "MONDO:0020432": "ectasia of the right atrial appendage", "MONDO:0020433": "ectasia of the left appendage", "MONDO:0020434": "atrial septal defect, ostium secundum type", "MONDO:0020435": "atrial septal defect, coronary sinus type", "MONDO:0020436": "atrial septal defect, sinus venosus type", "MONDO:0020437": "atrial septal defect, ostium primum type", "MONDO:0020438": "atrial septal aneurysm", "MONDO:0020439": "patent foramen ovale (disease)", "MONDO:0020440": "persistent left superior vena cava connecting to the left-sided atrium", "MONDO:0020441": "right superior vena cava connecting to left-sided atrium", "MONDO:0020442": "left superior vena cava persisting to left-sided atrium", "MONDO:0020443": "absence of innominate vein", "MONDO:0020444": "subaortic course of innominate vein", "MONDO:0020445": "agenesis of the superior vena cava", "MONDO:0020446": "coronary sinus stenosis", "MONDO:0020447": "coronary sinus atresia", "MONDO:0020448": "right inferior vena cava connecting to left-sided atrium", "MONDO:0020449": "persistent eustachian valve", "MONDO:0020450": "azygos continuation of the inferior vena cava", "MONDO:0020451": "congenital stenosis of the inferior vena cava", "MONDO:0020452": "inferior vena cava interruption", "MONDO:0020453": "congenital partial pulmonary venous return anomaly", "MONDO:0020454": "congenital complete agenesis of pericardium", "MONDO:0020455": "congenital partial agenesis of pericardium", "MONDO:0020456": "pleuro-pericardial cyst", "MONDO:0020457": "6-phosphogluconate dehydrogenase deficiency", "MONDO:0020458": "hemolytic anemia due to erythrocyte adenosine deaminase overproduction", "MONDO:0020459": "unstable hemoglobin disease", "MONDO:0020460": "acquired von willebrand syndrome", "MONDO:0020461": "epiblepharon", "MONDO:0020462": "tarsal kink syndrome", "MONDO:0020463": "isolated congenital ectropion", "MONDO:0020464": "euryblepharon", "MONDO:0020465": "congenital eyelid retraction", "MONDO:0020466": "monosomy X", "MONDO:0020467": "mosaic monosomy X", "MONDO:0020468": "paternal uniparental disomy of chromosome 13", "MONDO:0020469": "48,XYYY syndrome", "MONDO:0020470": "49,XYYYY syndrome", "MONDO:0020472": "Turner syndrome due to structural X chromosome anomalies", "MONDO:0020473": "dappled diaphyseal dysplasia", "MONDO:0020474": "cheirospondyloenchondromatosis", "MONDO:0020475": "dermotrichic syndrome", "MONDO:0020476": "mesial temporal lobe epilepsy with hippocampal sclerosis", "MONDO:0020477": "progeria-associated arthropathy", "MONDO:0020478": "Leber plus disease", "MONDO:0020479": "pituitary gigantism", "MONDO:0020480": "sulfite oxidase deficiency due to molybdenum cofactor deficiency", "MONDO:0020481": "myotonia fluctuans", "MONDO:0020482": "myotonia permanens", "MONDO:0020483": "acetazolamide-responsive myotonia", "MONDO:0020484": "rare familial disorder with hypertrophic cardiomyopathy", "MONDO:0020485": "King-Denborough syndrome", "MONDO:0020487": "Pontiac fever", "MONDO:0020488": "atypical progressive supranuclear palsy syndrome", "MONDO:0020489": "familial hyperreninemic hypoaldosteronism type 1", "MONDO:0020490": "mosaic trisomy 9", "MONDO:0020491": "subcortical band heterotopia", "MONDO:0020492": "hemimegalencephaly", "MONDO:0020493": "Haddad syndrome", "MONDO:0020494": "oculootodental syndrome", "MONDO:0020495": "peho-like syndrome", "MONDO:0020496": "familial porencephaly", "MONDO:0020497": "Turcot syndrome with polyposis", "MONDO:0020499": "Nipah virus disease", "MONDO:0020500": "Marburg hemorrhagic fever", "MONDO:0020501": "Crimean-Congo hemorrhagic fever", "MONDO:0020502": "yellow fever", "MONDO:0020504": "genetic recurrent myoglobinuria", "MONDO:0020505": "ravine syndrome", "MONDO:0020506": "ovarioleukodystrophy", "MONDO:0020507": "Cree leukoencephalopathy", "MONDO:0020508": "primary syringomyelia", "MONDO:0020509": "secondary syringomyelia", "MONDO:0020510": "idiopathic syringomyelia", "MONDO:0020511": "precursor B-cell acute lymphoblastic leukemia", "MONDO:0020512": "precursor T-cell acute lymphoblastic leukemia", "MONDO:0020513": "spermatocytic seminoma", "MONDO:0020516": "thymic neuroendocrine carcinoma", "MONDO:0020517": "eosinophilic granuloma", "MONDO:0020518": "Hashimoto-Pritzker syndrome", "MONDO:0020519": "hand-Schuller-Christian disease", "MONDO:0020520": "adult pulmonary Langerhans cell histiocytosis", "MONDO:0020521": "Ehlers-Danlos syndrome type 7A", "MONDO:0020522": "Ehlers-Danlos syndrome type 7B", "MONDO:0020523": "familial parathyroid adenoma", "MONDO:0020524": "primary parathyroid hyperplasia", "MONDO:0020526": "acute megakaryoblastic leukemia in down syndrome", "MONDO:0020527": "ectopic Cushing syndrome", "MONDO:0020528": "ACTH-dependent Cushing syndrome", "MONDO:0020529": "ACTH-independent Cushing syndrome", "MONDO:0020530": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency", "MONDO:0020531": "long chain acyl-CoA dehydrogenase deficiency", "MONDO:0020532": "spirillary rat-bite fever", "MONDO:0020533": "streptobacillary rat-bite fever", "MONDO:0020535": "house allergic alveolitis", "MONDO:0020537": "occupational allergic alveolitis", "MONDO:0020538": "malignant dysgerminomatous germ cell tumor of ovary", "MONDO:0020539": "extragonadal non-dysgerminomatous germ cell tumor", "MONDO:0020540": "ovarian gynandroblastoma", "MONDO:0020541": "maligant granulosa cell tumor of ovary", "MONDO:0020542": "malignant Sertoli-Leydig cell tumor of ovary", "MONDO:0020543": "theca steroid-producing cell malignant tumor of ovary, not further specified", "MONDO:0020544": "streptococcal toxic-shock syndrome", "MONDO:0020545": "staphylococcal toxic-shock syndrome", "MONDO:0020546": "acute graft versus host disease", "MONDO:0020547": "chronic graft versus host disease", "MONDO:0020549": "invasive hydatidiform mole", "MONDO:0020550": "gestational choriocarcinoma", "MONDO:0020552": "placental site trophoblastic tumor", "MONDO:0020553": "secondary pulmonary hemosiderosis", "MONDO:0020554": "Heiner syndrome", "MONDO:0020555": "pleuropulmonary blastoma type 1", "MONDO:0020556": "pleuropulmonary blastoma type 2", "MONDO:0020557": "pleuropulmonary blastoma type 3", "MONDO:0020558": "autosomal dominant Charcot-Marie-Tooth disease type 2K", "MONDO:0020559": "O'Sullivan-McLeod syndrome", "MONDO:0020560": "atypical teratoid rhabdoid tumor", "MONDO:0020561": "myxoid/round cell liposarcoma", "MONDO:0020562": "pleomorphic liposarcoma", "MONDO:0020563": "Dedifferentiated liposarcoma", "MONDO:0020567": "apnea of prematurity", "MONDO:0020568": "cutaneous myiasis", "MONDO:0020569": "intermediate DEND syndrome", "MONDO:0020571": "relapsing epidemic typhus", "MONDO:0020572": "complex regional pain syndrome type 2", "MONDO:0020603": "X-linked chondrodysplasia punctata 2", "MONDO:0020640": "autoimmune encephalitis", "MONDO:0020654": "renal pelvis/ureter urothelial carcinoma", "MONDO:0020667": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "MONDO:0020693": "glycogen storage disease due to liver phosphorylase kinase deficiency", "MONDO:0020702": "autosomal dominant epidermolytic ichthyosis", "MONDO:0020721": "X-linked sideroblastic anemia 1", "MONDO:0020726": "medullary cystic kidney disease 1", "MONDO:0020742": "obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome", "MONDO:0020743": "mixed phenotype acute leukemia", "MONDO:0020774": "Menke-Hennekam syndrome", "MONDO:0020781": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1", "MONDO:0020783": "capillary malformation-arteriovenous malformation 1", "MONDO:0020831": "congenital vertebral-cardiac-renal anomalies syndrome", "MONDO:0020871": "obsolete name syndrome", "MONDO:0020999": "obsolete genetic chronic primary adrenal insufficiency", "MONDO:0021001": "hemochromatosis type 1", "MONDO:0021005": "faciodigitogenital syndrome", "MONDO:0021013": "trichothiodystrophy 4, nonphotosensitive", "MONDO:0021018": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", "MONDO:0021019": "X-linked recessive ocular albinism", "MONDO:0021020": "Crigler-Najjar syndrome type 1", "MONDO:0021022": "hereditary hyperekplexia", "MONDO:0021023": "complete androgen insensitivity syndrome", "MONDO:0021026": "genetic epidermal appendage anomaly", "MONDO:0021027": "genetic hair anomaly", "MONDO:0021028": "genetic nail anomaly", "MONDO:0021029": "genetic sebaceous gland anomaly", "MONDO:0021034": "genetic alopecia", "MONDO:0021037": "genetic neurodegenerative disease with dementia", "MONDO:0021042": "glioma", "MONDO:0021054": "bone sarcoma", "MONDO:0021055": "classic familial adenomatous polyposis", "MONDO:0021060": "RASopathy", "MONDO:0021062": "hereditary acrokeratotic poikiloderma of Kindler-Weary", "MONDO:0021081": "anti-NMDA receptor encephalitis", "MONDO:0021102": "prostate phyllodes tumor", "MONDO:0021106": "laminopathy", "MONDO:0021107": "narcolepsy", "MONDO:0021133": "acquired factor XIII deficiency", "MONDO:0021134": "acquired factor X deficiency", "MONDO:0021141": "acquired", "MONDO:0021154": "dermis disease", "MONDO:0021169": "epithelioid hemangioma", "MONDO:0021172": "Timothy syndrome type 2 (disorder)", "MONDO:0021176": "autoimmune hepatitis type 2", "MONDO:0021181": "inherited blood coagulation disorder", "MONDO:0021198": "obsolete rare genetic disease", "MONDO:0021227": "adrenal gland neoplasm", "MONDO:0021228": "brainstem neoplasm", "MONDO:0021272": "inherited orthostatic hypotension", "MONDO:0021313": "eyelid cancer", "MONDO:0021427": "squamous cell carcinoma of lip", "MONDO:0021548": "total early-onset cataract", "MONDO:0021569": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "MONDO:0021588": "eyelid sebaceous gland carcinoma", "MONDO:0021636": "astrocytic tumor", "MONDO:0021651": "synpolydactyly", "MONDO:0021660": "deep seated dermatophytosis", "MONDO:0021690": "obsolete congenital left ventricular aneurysm", "MONDO:0022173": "chromosome 11q trisomy", "MONDO:0022174": "chromosome 12p deletion", "MONDO:0022177": "chromosome 13q trisomy", "MONDO:0022316": "hair defect with photosensitivity and intellectual disability syndrome", "MONDO:0022397": "retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene", "MONDO:0022399": "retinal ciliopathy due to mutation in the rpgr gene", "MONDO:0022400": "retinal ciliopathy due to mutation in the rpgrip gene", "MONDO:0022404": "retinal ciliopathy due to mutation in usher gene", "MONDO:0022405": "retinal ciliopathy due to mutation in nephronophthisis gene", "MONDO:0022407": "retinal ciliopathy due to mutation in bardet-biedl gene", "MONDO:0022409": "nephropathy-associated ciliopathy", "MONDO:0022410": "retinal ciliopathy", "MONDO:0022414": "allain-babin-demarquez syndrome", "MONDO:0022513": "atrophoderma of Pierini and Pasini", "MONDO:0022737": "choroideremia hypopituitarism", "MONDO:0022754": "chromosome 17p deletion", "MONDO:0022756": "chromosome 1q deletion", "MONDO:0022760": "chromosome 22q deletion", "MONDO:0022762": "chromosome 4 short arm deletion", "MONDO:0022800": "collagenopathy type 2 alpha 1", "MONDO:0022825": "congenital cystic eye", "MONDO:0022851": "Dennis-Fairhurst-Moore syndrome", "MONDO:0022921": "obsolete short stature-microcephaly-heart defect syndrome", "MONDO:0022932": "davenport-Donlan syndrome", "MONDO:0022986": "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia", "MONDO:0023072": "obsolete envenomization by Bothrops lanceolatus", "MONDO:0023171": "foix chavany Marie syndrome", "MONDO:0023188": "Freiberg disease", "MONDO:0023201": "Fryns Smeets Thiry syndrome", "MONDO:0023204": "Fukuda-Miyanomae-Nakata syndrome", "MONDO:0023206": "functional pancreatic neuroendocrine tumor", "MONDO:0023243": "glass-chapman-hockley syndrome", "MONDO:0023275": "Graham-Boyle-Troxell syndrome", "MONDO:0023540": "Kashani-Strom-Utley syndrome", "MONDO:0023865": "corneal infection", "MONDO:0024145": "obsolete Pierre Robin syndrome associated with collagen disease", "MONDO:0024147": "obsolete Pierre Robin syndrome associated with a chromosomal anomaly", "MONDO:0024148": "obsolete Pierre Robin syndrome associated with branchial archs anomalies", "MONDO:0024149": "obsolete Pierre Robin syndrome associated with bone disease", "MONDO:0024237": "inherited neurodegenerative disorder", "MONDO:0024257": "hereditary motor neuron disease", "MONDO:0024326": "pleural adenomatoid tumor", "MONDO:0024336": "vulvar adenocarcinoma", "MONDO:0024418": "muscular fibrosis multifocal obstructed vessels", "MONDO:0024457": "neurodegeneration with brain iron accumulation 2A", "MONDO:0024471": "non-inflammatory vasculopathy", "MONDO:0024472": "boutonneuse fever", "MONDO:0024503": "digestive system neuroendocrine neoplasm", "MONDO:0024504": "enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor", "MONDO:0024537": "Brown-Vialetto-van Laere syndrome 1", "MONDO:0024548": "peeling skin syndrome 1", "MONDO:0024551": "lymphoproliferative syndrome, X-linked, 1", "MONDO:0024557": "ataxia-telangiectasia-like disorder 1", "MONDO:0024559": "AAT1", "MONDO:0024568": "infantile liver failure syndrome 1", "MONDO:0024573": "familial hypertrophic cardiomyopathy", "MONDO:0024607": "congenital muscular dystrophy with cataracts and intellectual disability", "MONDO:0024609": "vulvar squamous cell carcinoma", "MONDO:0024686": "tenosynovial giant cell tumor, diffuse type", "MONDO:0024770": "autoinflammatory syndrome, familial, X-linked, Behcet-like 2", "MONDO:0024777": "immunodeficiency 98 with autoinflammation, X-linked", "MONDO:0024781": "immunodeficiency 102", "MONDO:0024987": "obsolete genetic urogenital tract malformation", "MONDO:0025193": "oculopharyngodistal myopathy", "MONDO:0025511": "inherited neuroendocrine tumor", "MONDO:0025514": "livedoid vasculopathy", "MONDO:0025667": "limbal stem cell deficiency", "MONDO:0026141": "obsolete genetic urticaria", "MONDO:0026150": "obsolete genetic erythrokeratoderma", "MONDO:0026151": "obsolete genetic acrokeratoderma", "MONDO:0026152": "obsolete genetic porokeratosis", "MONDO:0026157": "obsolete genetic pigmentation anomaly of the skin", "MONDO:0026160": "obsolete genetic dermis disorder", "MONDO:0026166": "obsolete genetic immune deficiency with skin involvement", "MONDO:0026167": "obsolete genetic neuromuscular disease", "MONDO:0026170": "obsolete genetic central nervous system malformation", "MONDO:0026173": "obsolete rare genetic medullar disease", "MONDO:0026180": "obsolete genetic congenital limb malformation", "MONDO:0026181": "obsolete genetic renal or urinary tract malformation", "MONDO:0026182": "obsolete genetic cranial malformation", "MONDO:0026183": "obsolete genetic digestive tract malformation", "MONDO:0026184": "obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen", "MONDO:0026185": "obsolete genetic respiratory or mediastinal malformation", "MONDO:0026186": "obsolete genetic developmental defect of the eye", "MONDO:0026187": "obsolete genetic malformation syndrome with short stature", "MONDO:0026188": "obsolete genetic overgrowth/obesity syndrome", "MONDO:0026189": "obsolete genetic branchial arch or oral-acral syndrome", "MONDO:0026190": "obsolete genetic malformation syndrome with odontal and/or periodontal component", "MONDO:0026192": "obsolete genetic glomerular disease", "MONDO:0026193": "obsolete genetic thrombotic microangiopathy", "MONDO:0026203": "obsolete genetic respiratory malformation", "MONDO:0026209": "obsolete genetic polyendocrinopathy", "MONDO:0026777": "VEXAS syndrome", "MONDO:0026989": "obsolete syndrome associated with hypertrophic cardiomyopathy", "MONDO:0027652": "5-fluorouracil toxicity", "MONDO:0027653": "abacavir toxicity", "MONDO:0027655": "allopurinol toxicity", "MONDO:0027664": "cisplatin toxicity", "MONDO:0027666": "codeine toxicity", "MONDO:0027667": "efavirenz toxicity", "MONDO:0027668": "flucloxacilline toxicity", "MONDO:0027675": "irinotecan toxicity", "MONDO:0027677": "isoniazid toxicity", "MONDO:0027687": "raltegravir toxicity", "MONDO:0027696": "voriconazole toxicity", "MONDO:0027749": "serpinopathy", "MONDO:0027750": "obsolete serpinopathy with toxic serpin polymerization", "MONDO:0027751": "obsolete serpinopathy with loss of serpin function", "MONDO:0027929": "obsolete genetic polycythemia", "MONDO:0028226": "autosomal recessive severe congenital neutropenia", "MONDO:0028569": "obsolete genetic interstitial lung disease", "MONDO:0028618": "gastroenteric neuroendocrine neoplasm", "MONDO:0028737": "biliary atresia disorder", "MONDO:0028795": "obsolete rare genetic systemic or rheumatologic disease", "MONDO:0028868": "obsolete genetic frontotemporal degeneration with dementia", "MONDO:0029014": "obsolete rare systemic or rheumatological disease of childhood", "MONDO:0029051": "obsolete autosomal recessive nail dysplasia", "MONDO:0029102": "obsolete autosomal ichthyosis syndrome with other associated signs", "MONDO:0029133": "muscular dystrophy, limb-girdle, autosomal dominant 4", "MONDO:0029134": "immunodeficiency 58", "MONDO:0029136": "muscular dystrophy, limb-girdle, autosomal recessive 23", "MONDO:0029810": "obsolete laminopathy with striated muscle involvement", "MONDO:0029811": "obsolete laminopathy with peripheral neuropathy", "MONDO:0029812": "obsolete laminopathy with lipodystrophy", "MONDO:0029813": "obsolete laminopathy with premature aging", "MONDO:0030006": "combined oxidative phosphorylation deficiency 40", "MONDO:0030045": "Liberfarb syndrome", "MONDO:0030048": "harderoporphyria", "MONDO:0030073": "Mitchell syndrome", "MONDO:0030074": "spondylometaphyseal dysplasia with corneal dystrophy", "MONDO:0030105": "galactosemia 4", "MONDO:0030258": "pontocerebellar hypoplasia, type 14", "MONDO:0030482": "spastic paraplegia 84, autosomal recessive", "MONDO:0030512": "spastic paraplegia 85, autosomal recessive", "MONDO:0030524": "mucopolysaccharidosis, type 10", "MONDO:0030673": "spastic paraplegia 86, autosomal recessive", "MONDO:0030767": "obsolete genetic tumor of hematopoietic and lymphoid tissues", "MONDO:0030805": "spinocerebellar ataxia 49", "MONDO:0030880": "mandibuloacral dysplasia progeroid syndrome", "MONDO:0030894": "AMED syndrome, digenic", "MONDO:0030898": "immunodeficiency 76", "MONDO:0030899": "oculocutaneous albinism type 8", "MONDO:0030912": "intellectual disability, autosomal dominant 47", "MONDO:0030913": "intellectual disability, autosomal dominant 48", "MONDO:0030914": "intellectual disability, autosomal dominant 49", "MONDO:0030947": "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities", "MONDO:0031004": "obsolete genetic disorder of sex development of gynecological interest", "MONDO:0031007": "spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis", "MONDO:0031008": "nephrotic syndrome, type 24", "MONDO:0031016": "obsolete genetic disorder of sex development", "MONDO:0031019": "spastic paraplegia 87, autosomal recessive", "MONDO:0031037": "famililal cerebral cavernous malformations", "MONDO:0031213": "restrictive dermopathy", "MONDO:0031219": "mismatch repair cancer syndrome", "MONDO:0031257": "high altitude pulmonary edema", "MONDO:0031322": "triopia", "MONDO:0031415": "Carey-Fineman-Ziter syndrome", "MONDO:0031421": "Olmsted syndrome", "MONDO:0031446": "hypercholanemia, familial 1", "MONDO:0031481": "microcephaly, epilepsy, and diabetes syndrome 1", "MONDO:0031689": "obsolete genetic progeroid syndrome", "MONDO:0031697": "obsolete genetic intractable diarrhea of infancy", "MONDO:0031698": "obsolete genetic intestinal disease due to fat malabsorption", "MONDO:0031799": "obsolete rare bone disease related to a common gene or pathway defect", "MONDO:0031949": "obsolete genetic neurovascular malformation", "MONDO:0031952": "obsolete genetic syndromic esophageal malformation", "MONDO:0032011": "obsolete biological anomaly", "MONDO:0032013": "obsolete clinical syndrome", "MONDO:0032014": "obsolete particular clinical situation in a disease or syndrome", "MONDO:0032221": "obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism", "MONDO:0032526": "spinocerebellar ataxia 48", "MONDO:0032600": "Snijders Blok-Campeau syndrome", "MONDO:0032601": "inflammatory bowel disease, immunodeficiency, and encephalopathy", "MONDO:0032642": "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development", "MONDO:0032643": "pontocerebellar hypoplasia, type 12", "MONDO:0032653": "cardiac-urogenital syndrome", "MONDO:0032654": "hyper-IgE recurrent infection syndrome 3, autosomal recessive", "MONDO:0032672": "intellectual developmental disorder with cardiac defects and dysmorphic facies", "MONDO:0032677": "lissencephaly 9 with complex brainstem malformation", "MONDO:0032678": "developmental and epileptic encephalopathy, 71", "MONDO:0032688": "polymicrogyria with or without vascular-type Ehlers-Danlos syndrome", "MONDO:0032705": "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination", "MONDO:0032714": "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome", "MONDO:0032716": "leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate", "MONDO:0032724": "spondyloepimetaphyseal dysplasia with joint laxity, type 3", "MONDO:0032726": "combined oxidative phosphorylation deficiency 39", "MONDO:0032737": "spastic paraplegia 80, autosomal dominant", "MONDO:0032780": "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities", "MONDO:0032814": "microangiopathy and leukoencephalopathy, pontine, autosomal dominant", "MONDO:0032819": "hypothyroidism, congenital, nongoitrous, 7", "MONDO:0032820": "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies", "MONDO:0032830": "snijders blok-fisher syndrome", "MONDO:0032831": "pontocerebellar hypoplasia, type 13", "MONDO:0032836": "Weiss-Kruszka syndrome", "MONDO:0032838": "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies", "MONDO:0032882": "Heyn-Sproul-Jackson syndrome", "MONDO:0032886": "Liang-Wang syndrome", "MONDO:0032899": "neutropenia, severe congenital, 8, autosomal dominant", "MONDO:0032906": "spastic paraplegia 82, autosomal recessive", "MONDO:0032916": "Imagawa-Matsumoto syndrome", "MONDO:0032928": "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant", "MONDO:0032931": "pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal", "MONDO:0032933": "chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant", "MONDO:0032942": "neurodevelopmental disorder with microcephaly and dysmorphic facies", "MONDO:0032943": "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies", "MONDO:0033043": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy", "MONDO:0033056": "obsolete genetic facial cleft", "MONDO:0033135": "Charcot-Marie-Tooth disease, demyelinating, type 1G", "MONDO:0033169": "curariform drugs toxicity", "MONDO:0033170": "statin toxicity", "MONDO:0033181": "phenytoin or carbamazepine toxicity", "MONDO:0033203": "nephrotic syndrome 14", "MONDO:0033282": "multiple mitochondrial dysfunctions syndrome 5", "MONDO:0033329": "obsolete genetic precocious puberty", "MONDO:0033331": "obsolete genetic precocious puberty in female", "MONDO:0033334": "obsolete genetic nose and cavum anomaly", "MONDO:0033335": "obsolete genetic larynx anomaly", "MONDO:0033336": "obsolete genetic tracheal anomaly", "MONDO:0033479": "spinocerebellar ataxia 44", "MONDO:0033480": "spinocerebellar ataxia 45", "MONDO:0033481": "spinocerebellar ataxia 46", "MONDO:0033482": "spinocerebellar ataxia 47", "MONDO:0033613": "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities", "MONDO:0033614": "spastic paraplegia 83, autosomal recessive", "MONDO:0033642": "neurodevelopmental disorder with alopecia and brain abnormalities", "MONDO:0033672": "Duane anomaly-myopathy-scoliosis syndrome", "MONDO:0033682": "skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome", "MONDO:0033683": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome", "MONDO:0033717": "congenital cerebellar ataxia due to RNU12 mutation", "MONDO:0033809": "isolated blepharochalasis", "MONDO:0033810": "isolated iridoschisis", "MONDO:0033816": "thygeson superficial punctate keratopathy", "MONDO:0033818": "Terrien marginal degeneration", "MONDO:0033821": "fungal keratitis", "MONDO:0033838": "radiation-induced plexopathy", "MONDO:0033839": "osteoradionecrosis of the mandible", "MONDO:0033850": "autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect", "MONDO:0033853": "congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome", "MONDO:0033856": "LAMA5-related multisystemic syndrome", "MONDO:0033862": "primary autoimmune enteropathy", "MONDO:0033864": "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome", "MONDO:0033885": "mitochondrial complex IV deficiency, nuclear-type", "MONDO:0033925": "pediatric-onset Graves disease", "MONDO:0033926": "prepubertal anorexia nervosa", "MONDO:0033927": "obsolete genetic complex vascular malformation with associated anomalies", "MONDO:0033938": "acute radiation syndrome", "MONDO:0033946": "hereditary angioedema with C1Inh deficiency", "MONDO:0033948": "acquired angioedema with C1Inh deficiency", "MONDO:0033954": "monoclonal mast cell activation syndrome", "MONDO:0033967": "obsolete immune dysregulation with inflammatory bowel disease", "MONDO:0033968": "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome", "MONDO:0033969": "inflammatory bowel disease-recurrent sinopulmonary infections syndrome", "MONDO:0033980": "RELA fusion-positive ependymoma", "MONDO:0034021": "spondylodysplastic Ehlers-Danlos syndrome", "MONDO:0034022": "Bethlem myopathy 2", "MONDO:0034024": "obsolete kyphoscoliotic Ehlers-Danlos syndrome", "MONDO:0034028": "obsolete symptomatic form of hemochromatosis type 1", "MONDO:0034039": "obsolete genetic hemoglobinopathy", "MONDO:0034041": "congenital axonal neuropathy with encephalopathy", "MONDO:0034054": "severe combined immunodeficiency due to CD70 deficiency", "MONDO:0034092": "optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome", "MONDO:0034103": "infection-related hemolytic uremic syndrome", "MONDO:0034106": "developmental and epileptic encephalopathy, 73", "MONDO:0034109": "congenital myopathy with reduced type 2 muscle fibers", "MONDO:0034110": "atypical Fanconi syndrome-neonatal hyperinsulinism syndrome", "MONDO:0034121": "NAD(P)HX dehydratase deficiency", "MONDO:0034127": "IgA pemphigus", "MONDO:0034142": "pancreatic agenesis-holoprosencephaly syndrome", "MONDO:0034143": "early-onset calcifying leukoencephalopathy-skeletal dysplasia", "MONDO:0034145": "oculocerebrodental syndrome", "MONDO:0034146": "spastic ataxia-dysarthria due to glutaminase deficiency", "MONDO:0034150": "idiopathic gastroparesis", "MONDO:0034186": "autosomal recessive extra-oral halitosis", "MONDO:0034189": "primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome", "MONDO:0034204": "syndromic congenital sodium diarrhea", "MONDO:0034212": "methotrexate toxicity", "MONDO:0034216": "resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha", "MONDO:0034217": "obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta", "MONDO:0034443": "obsolete genetic non-acquired premature ovarian failure", "MONDO:0034556": "vibratory angioedema", "MONDO:0034641": "obsolete rare genetic hyperkinetic movement disorder", "MONDO:0034661": "obsolete syndromic biliary atresia", "MONDO:0034667": "obsolete longitudinal limb defect", "MONDO:0034668": "obsolete terminal transverse limb defect", "MONDO:0034669": "obsolete non-syndromic preaxial polydactyly", "MONDO:0034670": "obsolete non-syndromic postaxial polydactyly", "MONDO:0034671": "obsolete non-syndromic complex polydactyly", "MONDO:0034676": "overgrowth syndrome with 2q37 translocation", "MONDO:0034678": "obsolete mirror-image polydactyly", "MONDO:0034733": "obsolete cochlear nerve deficiency", "MONDO:0034819": "obsolete familial intestinal malrotation", "MONDO:0034820": "cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome", "MONDO:0034846": "primary desmosis coli", "MONDO:0034872": "obsolete large granular lymphocyte leukemia", "MONDO:0034895": "congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome", "MONDO:0034901": "obsolete ATP13A2-related parkinsonism", "MONDO:0034923": "obsolete inflammatory/autoimmune disorder involving the lacrimal system", "MONDO:0034926": "obsolete rare disorder with entropion", "MONDO:0034931": "obsolete rare conjunctivitis", "MONDO:0034937": "obsolete syndromic ectopia lentis", "MONDO:0034943": "obsolete isolated vitreoretinopathy", "MONDO:0034953": "obsolete syndromic inherited retinal disorder", "MONDO:0034954": "obsolete syndromic vitreoretinopathy", "MONDO:0034961": "obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature", "MONDO:0034962": "obsolete rare ophthalmic disorder with cortical involvement", "MONDO:0034965": "obsolete rare ophthalmic disorder with cranial nerve involvement", "MONDO:0034968": "obsolete rare ocular motility/alignment disorder", "MONDO:0034971": "isolated congenital entropion", "MONDO:0034976": "iatrogenic Creutzfeldt-Jakob disease", "MONDO:0034977": "obsolete isolated microspherophakia", "MONDO:0034978": "isolated foveal hypoplasia", "MONDO:0034979": "obsolete peripapillary staphyloma", "MONDO:0034980": "obsolete isolated megalopapilla", "MONDO:0034981": "obsolete optic disk pit", "MONDO:0034987": "intraductal tubulopapillary neoplasm of pancreas", "MONDO:0034989": "intellectual disability-cardiac anomalies-short stature-joint laxity syndrome", "MONDO:0034991": "intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome", "MONDO:0035001": "obsolete rare disorder of the visual organs", "MONDO:0035002": "obsolete isolated inherited retinal disorder", "MONDO:0035004": "serine biosynthesis pathway deficiency, infantile/juvenile form", "MONDO:0035008": "isolated splenic vein thrombosis", "MONDO:0035009": "isolated mesenteric vein thrombosis", "MONDO:0035013": "obsolete genetic primary orthostatic disorder", "MONDO:0035014": "obsolete primary orthostatic disorder", "MONDO:0035018": "frontonasal dysplasia-bifid nose-upper limb anomalies syndrome", "MONDO:0035027": "microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome", "MONDO:0035037": "obsolete rare genetic disorder of the visual organs", "MONDO:0035075": "obsolete secondary early-onset glaucoma of genetic origin", "MONDO:0035105": "diaphragmatic hernia-short bowel-asplenia syndrome", "MONDO:0035112": "acute myeloid leukemia with BCR-ABL1", "MONDO:0035121": "myeloid/lymphoid neoplasm associated with JAK2 rearrangement", "MONDO:0035122": "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder", "MONDO:0035124": "linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies", "MONDO:0035133": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome", "MONDO:0035136": "isolated melanotic schwannoma", "MONDO:0035149": "secondary erythromelalgia", "MONDO:0035151": "17q24.2 microdeletion syndrome", "MONDO:0035153": "male infertility due to acephalic spermatozoa", "MONDO:0035159": "dermoid or epidermoid cyst of the central nervous system", "MONDO:0035161": "progressive dementia with neuroserpin inclusion bodies", "MONDO:0035162": "obsolete PIK3CA-related overgrowth syndrome", "MONDO:0035173": "9q21.13 microdeletion syndrome", "MONDO:0035220": "PLG-related hereditary angioedema with normal C1inh", "MONDO:0035235": "classic pyoderma gangrenosum", "MONDO:0035236": "pustular pyoderma gangrenosum", "MONDO:0035237": "bullous pyoderma gangrenosum", "MONDO:0035238": "vegetative pyoderma gangrenosum", "MONDO:0035249": "obsolete anomalous aortic origin of the left coronary artery", "MONDO:0035250": "obsolete anomalous aortic origin of the right coronary artery", "MONDO:0035251": "obsolete anomalous aortic origin of coronary artery", "MONDO:0035252": "obsolete anomalous origin of coronary artery from the pulmonary artery", "MONDO:0035267": "obsolete quadricuspid aortic valve", "MONDO:0035274": "obsolete anomaly of the coronary ostia", "MONDO:0035290": "atypical hemolytic uremic syndrome with complement gene abnormality", "MONDO:0035293": "streptococcus pneumoniae-associated hemolytic uremic syndrome", "MONDO:0035295": "congenital primary megaureter, refluxing and obstructed form", "MONDO:0035312": "fibrohistiocytic inflammatory pseudotumor of the liver", "MONDO:0035313": "lymphoplasmacytic inflammatory pseudotumor of the liver", "MONDO:0035314": "obsolete congenital tricuspid valve dysplasia", "MONDO:0035320": "early-onset familial hypoaldosteronism", "MONDO:0035321": "late-onset familial hypoaldosteronism", "MONDO:0035328": "obsolete rare disorder due to poisoning", "MONDO:0035337": "Duane retraction syndrome with congenital deafness", "MONDO:0035340": "obsolete rare disorder with hirschsprung disease as a major feature", "MONDO:0035344": "acute bilirubin encephalopathy", "MONDO:0035345": "chronic bilirubin encephalopathy", "MONDO:0035349": "localized dystrophic epidermolysis bullosa", "MONDO:0035350": "letrozole toxicity", "MONDO:0035357": "portosinusoidal vascular disease", "MONDO:0035362": "TRIM22-related inflammatory bowel disease", "MONDO:0035370": "ALPI-related inflammatory bowel disease", "MONDO:0035375": "multisystem inflammatory syndrome in children and adults", "MONDO:0035398": "obsolete hypomyelination of early myelinating structures", "MONDO:0035400": "seronegative autoimmune hepatitis", "MONDO:0035401": "isolated anencephaly", "MONDO:0035402": "isolated exencephaly", "MONDO:0035403": "serous cystadenoma of childhood", "MONDO:0035404": "mucinous cystadenoma of childhood", "MONDO:0035405": "seromucinous cystadenoma of childhood", "MONDO:0035406": "furuncular myiasis due to Dermatobia hominis", "MONDO:0035407": "furuncular myiasis due to Cordylobia anthropophaga", "MONDO:0035408": "furuncular myiasis due to Cordylobia rodhaini", "MONDO:0035410": "isolated congenital aglossia", "MONDO:0035411": "isolated congenital hypoglossia", "MONDO:0035423": "triglyceride deposit cardiomyovasculopathy", "MONDO:0035426": "obsolete rare disorder potentially indicated for transplant or complication after transplantation", "MONDO:0035432": "POMGNT2-related limb-girdle muscular dystrophy R24", "MONDO:0035437": "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome", "MONDO:0035441": "congenital autosomal recessive small-platelet thrombocytopenia", "MONDO:0035444": "acute mast cell leukemia", "MONDO:0035445": "chronic mast cell leukemia", "MONDO:0035447": "liver adenomatosis", "MONDO:0035448": "obsolete aprosencephaly/atelencephaly spectrum", "MONDO:0035449": "atelencephaly", "MONDO:0035450": "aprosencephaly", "MONDO:0035451": "obsolete left sided atrial isomerism", "MONDO:0035452": "mueller-weiss syndrome", "MONDO:0035459": "idiopathic multidrug-resistant nephrotic syndrome", "MONDO:0035460": "idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy", "MONDO:0035461": "obsolete systemic disease with glomerulopathy as a major feature", "MONDO:0035466": "obsolete nephrotic syndrome without extrarenal manifestations", "MONDO:0035469": "obsolete primary lymphedema without systemic or visceral involvement", "MONDO:0035470": "obsolete primary lymphedema with systemic or visceral involvement", "MONDO:0035471": "obsolete disorder with multisystemic involvement and primary lymphedema", "MONDO:0035472": "GJC2-related late-onset primary lymphedema", "MONDO:0035473": "warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome", "MONDO:0035475": "EPHB4-related lymphatic-related hydrops fetalis", "MONDO:0035499": "CELSR1-related late-onset primary lymphedema", "MONDO:0035500": "congenital primary lymphedema of Gordon", "MONDO:0035511": "ricin poisoning", "MONDO:0035521": "blepharophimosis-ptosis-epicanthus inversus syndrome plus", "MONDO:0035524": "blepharophimosis-ptosis-epicanthus inversus syndrome type 1", "MONDO:0035525": "blepharophimosis-ptosis-epicanthus inversus syndrome type 2", "MONDO:0035529": "infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia", "MONDO:0035534": "DONSON-related microcephaly-short stature-limb abnormalities spectrum", "MONDO:0035540": "pheochromocytoma-paraganglioma", "MONDO:0035541": "obsolete split cord malformation type II", "MONDO:0035542": "obsolete split cord malformation", "MONDO:0035548": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency", "MONDO:0035551": "cathepsin a-related arteriopathy-strokes-leukoencephalopathy", "MONDO:0035554": "obsolete complete atrioventricular septal defect without ventricular hypoplasia", "MONDO:0035555": "obsolete partial atrioventricular septal defect with ventricular hypoplasia", "MONDO:0035556": "obsolete partial atrioventricular septal defect without ventricular hypoplasia", "MONDO:0035557": "obsolete intermediate atrioventricular septal defect", "MONDO:0035561": "obsolete sporadic human prion disease", "MONDO:0035562": "acquired human prion disease", "MONDO:0035581": "obsolete lethal brain and heart developmental defects", "MONDO:0035584": "punctate inner choroidopathy", "MONDO:0035586": "Cramp-fasciculation syndrome", "MONDO:0035592": "congenital infiltrating lipomatosis of the face", "MONDO:0035605": "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality", "MONDO:0035614": "sporadic fatal insomnia", "MONDO:0035639": "mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)", "MONDO:0035642": "mixed phenotype acute leukemia with t(v;11q23.3)", "MONDO:0035645": "obsolete inherited gynecological cancer-predisposing syndrome", "MONDO:0035646": "congenital-onset Steinert myotonic dystrophy", "MONDO:0035647": "childhood-onset Steinert myotonic dystrophy", "MONDO:0035648": "juvenile-onset Steinert myotonic dystrophy", "MONDO:0035649": "adult-onset Steinert myotonic dystrophy", "MONDO:0035650": "late-onset Steinert myotonic dystrophy", "MONDO:0035651": "choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "MONDO:0035660": "GNAO1-related developmental delay-seizures-movement disorder spectrum", "MONDO:0035661": "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome", "MONDO:0035663": "neuromyelitis optica spectrum disorder with anti-AQP4 antibodies", "MONDO:0035664": "neuromyelitis optica spectrum disorder with anti-MOG antibodies", "MONDO:0035665": "neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies", "MONDO:0035666": "acute transverse myelitis with anti-MOG antibodies", "MONDO:0035667": "isolated optic neuritis without anti-MOG antibodies", "MONDO:0035668": "isolated optic neuritis with anti-MOG antibodies", "MONDO:0035669": "acute disseminated encephalomyelitis with anti-MOG antibodies", "MONDO:0035670": "acute disseminated encephalomyelitis without anti-MOG antibodies", "MONDO:0035678": "Timothy syndrome type 1", "MONDO:0035679": "Timothy syndrome type 2", "MONDO:0035682": "obsolete fibrous dysplasia/McCune-Albright syndrome", "MONDO:0035683": "obsolete adrenal hypoplasia congenita", "MONDO:0035684": "obsolete epidermolysis bullosa simplex without extracutaneous involvement", "MONDO:0035685": "obsolete epidermolysis bullosa simplex with extracutaneous involvement", "MONDO:0035689": "obsolete syndrome of reduced sensitivity to thyroid hormone", "MONDO:0035694": "combined immunodeficiency due to RELA haploinsufficiency", "MONDO:0035696": "incomplete septal cirrhosis", "MONDO:0035706": "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome", "MONDO:0035707": "blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome", "MONDO:0035734": "hereditary angioedema with normal C1inh not related to F12 or PLG variant", "MONDO:0035735": "acquired hemophilia A", "MONDO:0035736": "acquired hemophilia B", "MONDO:0035737": "acquired factor V deficiency", "MONDO:0035738": "acquired factor VII deficiency", "MONDO:0035740": "acquired factor XI deficiency", "MONDO:0035742": "factor V short isoforms-related bleeding disorder", "MONDO:0035743": "factor V amsterdam bleeding disorder", "MONDO:0035759": "factor V atlanta bleeding disorder", "MONDO:0035763": "idiopathic non-lupus full-house nephropathy", "MONDO:0035764": "idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance", "MONDO:0035774": "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance", "MONDO:0035775": "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome", "MONDO:0035776": "combined deficiency of factor VII and factor X", "MONDO:0035777": "parenteral nutrition-associated cholestasis", "MONDO:0035780": "obsolete non-syndromic anorectal malformation with perineal fistula", "MONDO:0035781": "obsolete non-syndromic anorectal malformation with rectourethral fistula", "MONDO:0035782": "non-syndromic anorectal malformation with rectourethral fistula, bulbar type", "MONDO:0035783": "non-syndromic anorectal malformation with rectourethral fistula, prostatic type", "MONDO:0035784": "obsolete non-syndromic anorectal malformation with rectovesical fistula", "MONDO:0035785": "obsolete non-syndromic anorectal malformation with vestibular fistula", "MONDO:0035786": "obsolete non-syndromic cloacal malformation", "MONDO:0035787": "obsolete non-syndromic anorectal malformation without fistula", "MONDO:0035788": "obsolete non-syndromic anorectal malformation with anal stenosis", "MONDO:0035789": "obsolete non-syndromic anorectal malformation with pouch colon", "MONDO:0035790": "obsolete non-syndromic anorectal malformation with rectal atresia", "MONDO:0035791": "obsolete non-syndromic anorectal malformation with rectal stenosis", "MONDO:0035792": "obsolete non-syndromic anorectal malformation with rectovaginal fistula", "MONDO:0035793": "obsolete non-syndromic anorectal malformation with h-type fistula", "MONDO:0035819": "cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome", "MONDO:0035821": "isolated female hypospadias", "MONDO:0035823": "KLHL7-related Bohring-Opitz-like syndrome", "MONDO:0035824": "KLHL7-related cold-induced sweating-like syndrome", "MONDO:0035826": "symptomatic form of X-linked centronuclear myopathy in female carriers", "MONDO:0035838": "idiopathic multicentric Castleman disease", "MONDO:0035862": "obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome", "MONDO:0035863": "obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "MONDO:0035875": "ivermectin toxicity", "MONDO:0035876": "belinostat toxicity or dose selection", "MONDO:0035879": "granuloma faciale", "MONDO:0035882": "chronic intervillositis of unknown etiology", "MONDO:0035892": "Mills syndrome", "MONDO:0035930": "neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency", "MONDO:0035940": "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)", "MONDO:0035941": "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)", "MONDO:0035942": "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)", "MONDO:0035943": "B-lymphoblastic leukemia/lymphoma with hyperdiploidy", "MONDO:0035944": "B-lymphoblastic leukemia/lymphoma with hypodiploidy", "MONDO:0035945": "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)", "MONDO:0036025": "toxicity to dolutegravir", "MONDO:0036042": "KAT6B-related multiple congenital anomalies syndrome", "MONDO:0036045": "euthyroid dysprealbuminemic hyperthyroxinemia", "MONDO:0036189": "oculogastrointestinal-neurodevelopmental syndrome", "MONDO:0036193": "parkinsonism with polyneuropathy", "MONDO:0036212": "spastic paraparesis-cataracts-speech delay syndrome", "MONDO:0036217": "lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation", "MONDO:0036218": "lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster", "MONDO:0036918": "punctate acrokeratoderma freckle-like pigmentation", "MONDO:0037149": "HSD10 disease, atypical type", "MONDO:0037398": "pneumonia caused by pseudomonas aeruginosa infection", "MONDO:0037716": "obsolete rare genetic deafness", "MONDO:0037860": "obsolete rare systemic or rheumatologic disease", "MONDO:0038261": "obsolete genetic neurological channelopathy of the central nervous system", "MONDO:0038268": "obsolete autoimmune neurological channelopathy", "MONDO:0040671": "class V glucose-6-phosphate dehydrogenase deficiency", "MONDO:0041052": "postherpetic neuralgia", "MONDO:0041186": "Rowell syndrome", "MONDO:0042727": "sacrococcygeal teratoma", "MONDO:0043005": "genetic multiple congenital anomalies/dysmorphic syndrome", "MONDO:0043007": "genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome", "MONDO:0043008": "genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability", "MONDO:0043009": "genetic lethal multiple congenital anomalies/dysmorphic syndrome", "MONDO:0043096": "holoacardius amorphus", "MONDO:0043108": "infantile striato thalamic degeneration", "MONDO:0043143": "microphthalmia microtia fetal akinesia", "MONDO:0043164": "palmer pagon syndrome", "MONDO:0043257": "pemphigus and fogo selvagem", "MONDO:0043317": "amyopathic dermatomyositis", "MONDO:0043330": "Mirizzi syndrome", "MONDO:0043349": "intravascular papillary endothelial hyperplasia", "MONDO:0043361": "May-Thurner syndrome", "MONDO:0043373": "sudden sensorineural hearing loss", "MONDO:0043459": "radiation-induced disorder", "MONDO:0043537": "cluster headache syndrome", "MONDO:0043797": "spinal cord injury", "MONDO:0044067": "candidiasis, Invasive", "MONDO:0044113": "bullous systemic lupus erythematosus", "MONDO:0044200": "T-B+ severe combined immunodeficiency", "MONDO:0044201": "T+ B+ severe combined immunodeficiency", "MONDO:0044202": "episodic kinesigenic dyskinesia", "MONDO:0044300": "familial adenomatous polyposis 4", "MONDO:0044302": "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder", "MONDO:0044304": "hyperphenylalaninemia due to DNAJC12 deficiency", "MONDO:0044306": "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "MONDO:0044318": "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "MONDO:0044319": "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "MONDO:0044323": "Rahman syndrome", "MONDO:0044331": "genetic transient congenital hypothyroidism", "MONDO:0044332": "childhood-onset benign chorea with striatal involvement", "MONDO:0044355": "isolated sternocostoclavicular hyperostosis", "MONDO:0044406": "arthrogryposis-ectodermal dysplasia-other anomalies syndrome", "MONDO:0044617": "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome", "MONDO:0044619": "propylthiouracil embryofetopathy", "MONDO:0044621": "16p12.1p12.3 triplication syndrome", "MONDO:0044622": "EMILIN-1-related connective tissue disease", "MONDO:0044624": "pediatric collagenous gastritis", "MONDO:0044625": "autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation", "MONDO:0044626": "female infertility due to oocyte meiotic arrest", "MONDO:0044627": "acute macular neuroretinopathy", "MONDO:0044628": "six2-related frontonasal dysplasia", "MONDO:0044629": "congenital amyoplasia", "MONDO:0044631": "early-onset familial noncirrhotic portal hypertension", "MONDO:0044632": "extracranial carotid artery aneurysm", "MONDO:0044633": "idiopathic pleuroparenchymal fibroelastosis", "MONDO:0044634": "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome", "MONDO:0044635": "diaph1-related sensorineural hearing loss-thrombocytopenia syndrome", "MONDO:0044636": "rare hyperkinetic movement disorder", "MONDO:0044637": "infantile-onset generalized dyskinesia with orofacial involvement", "MONDO:0044638": "hypopharynx squamous cell carcinoma", "MONDO:0044640": "charcot-marie-tooth disease type 2T", "MONDO:0044641": "9q33.3q34.11 microdeletion syndrome", "MONDO:0044642": "c11orf73-related autosomal recessive hypomyelinating leukodystrophy", "MONDO:0044643": "congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome", "MONDO:0044644": "congenital agenesis of the scrotum", "MONDO:0044645": "familial monosomy 7 syndrome", "MONDO:0044646": "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome", "MONDO:0044647": "kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome", "MONDO:0044648": "kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome", "MONDO:0044649": "omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome", "MONDO:0044651": "early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome", "MONDO:0044655": "c12orf65-related combined oxidative phosphorylation defect", "MONDO:0044656": "epidermolytic nevus", "MONDO:0044657": "MME-related autosomal dominant Charcot Marie Tooth disease type 2", "MONDO:0044660": "menstrual cycle-dependent periodic fever", "MONDO:0044663": "aquagenic palmoplantar keratoderma", "MONDO:0044675": "LRP5-related primary osteoporosis", "MONDO:0044682": "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome", "MONDO:0044683": "limbic encephalitis with neurexin-3 antibodies", "MONDO:0044685": "autoimmune/inflammatory optic neuropathy", "MONDO:0044687": "chronic relapsing inflammatory optic neuropathy", "MONDO:0044688": "isolated optic neuritis", "MONDO:0044689": "recurrent idiopathic neuroretinitis", "MONDO:0044690": "optic perineuritis", "MONDO:0044696": "early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome", "MONDO:0044699": "SIN3A-related intellectual disability syndrome", "MONDO:0044700": "SIN3A-related intellectual disability syndrome due to a point mutation", "MONDO:0044701": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder", "MONDO:0044702": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome", "MONDO:0044704": "oropharynx squamous cell carcinoma", "MONDO:0044705": "paranasal sinus squamous cell carcinoma", "MONDO:0044709": "cochleovestibular dysplasia", "MONDO:0044710": "lip and oral cavity squamous cell carcinoma", "MONDO:0044714": "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome", "MONDO:0044717": "4q25 proximal deletion syndrome", "MONDO:0044718": "alkaline ceramidase 3 deficiency", "MONDO:0044719": "erythema multiforme major", "MONDO:0044720": "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome", "MONDO:0044721": "severe combined immunodeficiency due to LAT deficiency", "MONDO:0044723": "3-methylglutaconic aciduria type 8", "MONDO:0044724": "3-methylglutaconic aciduria type 9", "MONDO:0044725": "combined immunodeficiency due to GINS1 deficiency", "MONDO:0044726": "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome", "MONDO:0044727": "pancreatic carcinoma with mixed differentiation", "MONDO:0044737": "autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction", "MONDO:0044738": "Gabriele de Vries syndrome", "MONDO:0044739": "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome", "MONDO:0044740": "salivary gland squamous cell carcinoma", "MONDO:0044742": "autosomal recessive epidermolytic ichthyosis", "MONDO:0044778": "nodular lymphocyte predominant Hodgkin lymphoma", "MONDO:0044791": "combined hepatocellular carcinoma and cholangiocarcinoma", "MONDO:0044792": "large congenital melanocytic nevus", "MONDO:0044807": "inherited dystonia", "MONDO:0044877": "paraneoplastic cerebellar degeneration", "MONDO:0054559": "congenital disorder of glycosylation, type IIq", "MONDO:0054636": "Skraban-Deardorff syndrome", "MONDO:0054669": "pontocerebellar hypoplasia, type 11", "MONDO:0054680": "epiphyseal dysplasia, multiple, 7", "MONDO:0054741": "combined oxidative phosphorylation deficiency 34", "MONDO:0054770": "orofaciodigital syndrome 18", "MONDO:0054785": "multiple mitochondrial dysfunctions syndrome 6", "MONDO:0054813": "ehlers-danlos syndrome, classic-like, 2", "MONDO:0054833": "charcot-marie-tooth disease, axonal, type 2DD", "MONDO:0054865": "encephalopathy due to defective mitochondrial and peroxisomal fission", "MONDO:0060490": "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "MONDO:0060502": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "MONDO:0060507": "retinal dystrophy with or without macular staphyloma", "MONDO:0060510": "Cohen-Gibson syndrome", "MONDO:0060532": "congenital heart defects and skeletal malformations syndrome", "MONDO:0060533": "microcephaly, short stature, and limb abnormalities", "MONDO:0060549": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay", "MONDO:0060556": "joint laxity, short stature, and myopia", "MONDO:0060564": "helix syndrome", "MONDO:0060568": "Pilarowski-Bjornsson syndrome", "MONDO:0060578": "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures", "MONDO:0060582": "auditory neuropathy and optic atrophy", "MONDO:0060611": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "MONDO:0060622": "neurodevelopmental disorder with severe motor impairment and absent language", "MONDO:0060627": "glycosylphosphatidylinositol biosynthesis defect 15", "MONDO:0060631": "Alkuraya-Kucinskas syndrome", "MONDO:0060707": "Ververi-Brady syndrome", "MONDO:0060759": "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", "MONDO:0060763": "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities", "MONDO:0100038": "complex neurodevelopmental disorder", "MONDO:0100040": "FOXG1 disorder", "MONDO:0100076": "juvenile idiopathic scoliosis", "MONDO:0100101": "fetal akinesia deformation sequence 1", "MONDO:0100115": "acute flaccid myelitis", "MONDO:0100116": "Middle East respiratory syndrome", "MONDO:0100130": "adult acute respiratory distress syndrome", "MONDO:0100133": "mitochondrial complex I deficiency", "MONDO:0100147": "SATB2 associated disorder", "MONDO:0100161": "hyperkalemic renal tubular acidosis", "MONDO:0100164": "permanent neonatal diabetes mellitus", "MONDO:0100186": "GTP cyclohydrolase I deficiency with hyperphenylalaninemia", "MONDO:0100189": "obsolete apolipoprotein A-I deficiency", "MONDO:0100211": "growth hormone insensitivity with immune dysregulation 1, autosomal recessive", "MONDO:0100212": "IFAP syndrome", "MONDO:0100215": "Rajab interstitial lung disease with brain calcifications 1", "MONDO:0100216": "DICER1-related tumor predisposition", "MONDO:0100229": "obsolete Heimler syndrome", "MONDO:0100234": "paroxysmal familial ventricular fibrillation", "MONDO:0100244": "paroxysmal nocturnal hemoglobinuria", "MONDO:0100249": "46,XX testicular disorder of sex development", "MONDO:0100251": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome", "MONDO:0100253": "Roberts-SC phocomelia syndrome", "MONDO:0100255": "adenosine kinase deficiency", "MONDO:0100280": "Waldenstrom macroglobulinemia", "MONDO:0100289": "Goldmann-Favre syndrome", "MONDO:0100294": "mitochondrial complex II deficiency, nuclear type 1", "MONDO:0100309": "hereditary ataxia", "MONDO:0100325": "odontochondrodysplasia 1", "MONDO:0100326": "Glanzmann thrombasthenia", "MONDO:0100339": "Friedreich ataxia", "MONDO:0100343": "obsolete antenatal Bartter syndrome", "MONDO:0100344": "Bartter disease type 1", "MONDO:0100347": "carcinoid syndrome", "MONDO:0100349": "COACH syndrome", "MONDO:0100350": "neuronopathy, distal hereditary motor, type 5", "MONDO:0100354": "megacystis-microcolon-intestinal hypoperistalsis syndrome 1", "MONDO:0100367": "port-wine nevi-mega cisterna magna-hydrocephalus syndrome", "MONDO:0100428": "progressive bulbar palsy of childhood", "MONDO:0100429": "intrahepatic cholestasis of pregnancy", "MONDO:0100450": "CAPN5-related vitreoretinopathy", "MONDO:0100462": "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans", "MONDO:0100466": "butterfly-shaped pigment dystrophy", "MONDO:0100480": "autoimmune primary adrenal insufficiency", "MONDO:0100491": "generalized pustular psoriasis", "MONDO:0100508": "salivary gland type cancer of the breast", "MONDO:0100512": "mitochondrial DNA depletion syndrome, hepatocerebral form", "MONDO:0100527": "dysplastic cortical hyperostosis, Kozlowski-Tsuruta type", "MONDO:0100528": "Hao-Fountain syndrome due to 16p13.2 microdeletion", "MONDO:0100552": "ATTRV30M amyloidosis", "MONDO:0100566": "myoclonic epilepsy in infancy", "MONDO:0100567": "hereditary angioedema with normal C1Inh", "MONDO:0100600": "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome", "MONDO:0100605": "POLR-related leukodystrophy", "MONDO:0600030": "B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)", "MONDO:0700088": "paroxysmal nonkinesigenic dyskinesia", "MONDO:0700220": "disease related to transplantation", "MONDO:0700264": "type 1 interferonopathy", "MONDO:0700275": "prostate cancer, hereditary", "MONDO:0700291": "glycogen storage disease IX", "MONDO:0700335": "familial isolated dilated cardiomyopathy", "MONDO:0800025": "Teebi hypertelorism syndrome 1", "MONDO:0800026": "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease", "MONDO:0800027": "leukoencephalopathy, diffuse hereditary, with spheroids 1", "MONDO:0800028": "dyskinesia with orofacial involvement, autosomal dominant", "MONDO:0800029": "interstitial lung disease 2", "MONDO:0800030": "gastrointestinal defects and immunodeficiency syndrome 1", "MONDO:0800043": "Stüve-Wiedemann syndrome 1", "MONDO:0800044": "congenital disorder of deglycosylation 1", "MONDO:0800045": "autoinflammatory syndrome, familial, Behcet-like 1", "MONDO:0800046": "thyroid hormone metabolism, abnormal 1", "MONDO:0800084": "obsolete primary bone dysplasia with increased bone density", "MONDO:0800085": "obsolete dysostosis with predominant craniofacial involvement", "MONDO:0800086": "obsolete primary bone dysplasia with multiple joint dislocations", "MONDO:0800087": "obsolete type 11 collagen-related bone disorder", "MONDO:0800088": "lysosomal storage disease with skeletal involvement", "MONDO:0800089": "obsolete primary bone dysplasia with disorganized development of skeletal components", "MONDO:0800090": "obsolete ectrodactyly with and without other manifestations", "MONDO:0800091": "obsolete overgrowth or tall stature syndrome with skeletal involvement", "MONDO:0800092": "obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy", "MONDO:0800093": "obsolete dysostosis with brachydactyly without extraskeletal manifestations", "MONDO:0800094": "obsolete dysostosis with brachydactyly with extraskeletal manifestations", "MONDO:0800095": "obsolete syndrome with synostosis or other joint formation defect", "MONDO:0800167": "Knobloch syndrome 1", "MONDO:0800175": "cardiogenic shock", "MONDO:0800436": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1", "MONDO:0800438": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1", "MONDO:0800445": "Birt-Hogg-Dube syndrome 1", "MONDO:0800446": "bleeding diathesis due to thromboxane synthesis deficiency", "MONDO:0800448": "leukoencephalopathy with vanishing white matter", "MONDO:0800449": "lysosomal acid lipase deficiency", "MONDO:0800452": "congenital amegakaryocytic thrombocytopenia 1", "MONDO:0800453": "juvenile absence epilepsy", "MONDO:0800478": "trigeminal trophic syndrome", "MONDO:0800491": "early-infantile DEE", "MONDO:0850001": "congenital neuronal ceroid lipofuscinosis", "MONDO:0850007": "syndromic lacrimal system disorder", "MONDO:0850008": "anterior segment developmental abnormality with extraocular manifestations", "MONDO:0850009": "syndromic microspherophakia", "MONDO:0850010": "congenital optic disk excavation", "MONDO:0850013": "twin anemia-polycythemia sequence", "MONDO:0850014": "twin-reversed arterial perfusion sequence", "MONDO:0850015": "selective intrauterine growth restriction", "MONDO:0850030": "complete hemimelia", "MONDO:0850046": "amniotic fluid embolism", "MONDO:0850048": "classic eosinophilic pustular folliculitis", "MONDO:0850049": "painful legs and moving toes syndrome", "MONDO:0850050": "congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome", "MONDO:0850053": "F12-associated cold autoinflammatory syndrome", "MONDO:0850054": "hemophilia B leyden", "MONDO:0850058": "chronic neurovisceral acid sphingomyelinase deficiency", "MONDO:0850059": "hereditary persistence of fetal hemoglobin-intellectual disability syndrome", "MONDO:0850064": "inherited hematologic cancer-predisposing syndrome", "MONDO:0850065": "neonatal-onset severe multisystemic autoinflammatory disease with increased IL18", "MONDO:0850066": "SAMD9L-associated autoinflammatory syndrome", "MONDO:0850067": "immune deficiency due to impaired neutrophil phagocytosis and migration", "MONDO:0850068": "early-onset autoimmunity-autoinflammation-immunodeficiency syndrome", "MONDO:0850069": "familial hyperinflammatory lymphoproliferative immunodeficiency", "MONDO:0850070": "CADINS disease", "MONDO:0850071": "developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome", "MONDO:0850072": "non-syndromic unisutural craniosynostosis", "MONDO:0850073": "non-syndromic unicoronal craniosynostosis", "MONDO:0850074": "non-syndromic unilambdoid craniosynostosis", "MONDO:0850075": "non-syndromic unifrontosphenoidal craniosynostosis", "MONDO:0850076": "non-syndromic unisquamosal craniosynostosis", "MONDO:0850077": "non-syndromic multisutural craniosynostosis", "MONDO:0850078": "non-syndromic non-specific multisutural craniosynostosis", "MONDO:0850079": "non-syndromic bilambdoid craniosynostosis", "MONDO:0850080": "non-syndromic unicoronal and sagittal craniosynostosis", "MONDO:0850081": "non-syndromic metopic and sagittal craniosynostosis", "MONDO:0850082": "non-syndromic bicoronal and metopic craniosynostosis", "MONDO:0850083": "non-syndromic bicoronal and sagittal craniosynostosis", "MONDO:0850084": "non-syndromic pansynostosis", "MONDO:0850087": "primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome", "MONDO:0850088": "EGF-related primary hypomagnesemia with intellectual disability", "MONDO:0850089": "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation", "MONDO:0850090": "fibrosis-neurodegeneration-cerebral angiomatosis syndrome", "MONDO:0850095": "X-linked severe syndromic thoracic aortic aneurysm and dissection", "MONDO:0850096": "SBDS-related severe neonatal spondylometaphyseal dysplasia", "MONDO:0850097": "autoimmune limbic encephalitis", "MONDO:0850099": "MIR140-related spondyloepiphyseal dysplasia", "MONDO:0850100": "body integrity dysphoria", "MONDO:0850102": "non-specific autoimmune supratentorial encephalitis with characteristic antibodies", "MONDO:0850103": "non-specific autoimmune supratentorial encephalitis without characteristic antibodies", "MONDO:0850104": "paraneoplastic isolated brainstem encephalitis", "MONDO:0850105": "non-specific autoimmune brainstem encephalitis with characteristic antibodies", "MONDO:0850106": "non-specific autoimmune brainstem encephalitis without characteristic antibodies", "MONDO:0850107": "postinfectious cerebellitis", "MONDO:0850108": "non-specific autoimmune cerebellar ataxia with characteristic antibodies", "MONDO:0850109": "non-specific autoimmune cerebellar ataxia without characteristic antibodies", "MONDO:0850112": "breast implant-associated anaplastic large cell lymphoma", "MONDO:0850115": "early-onset obesity-hyperphagia-severe developmental delay syndrome", "MONDO:0858997": "cancer of unknown primary site", "MONDO:0858998": "mesomelic dysplasia-digital anomalies-intellectual disability syndrome", "MONDO:0858999": "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome", "MONDO:0859000": "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome", "MONDO:0859002": "intellectual disability-early-onset cataract-microcephaly syndrome", "MONDO:0859003": "PAICS deficiency", "MONDO:0859004": "invasive scopulariopsis infection", "MONDO:0859005": "preaxial digit brachydactyly-webbed fingers", "MONDO:0859006": "proximal femoral focal deficiency", "MONDO:0859007": "mosaic Legius syndrome", "MONDO:0859008": "neurofibromatosis/schwannomatosis", "MONDO:0859139": "blepharophimosis-impaired intellectual development syndrome", "MONDO:0859143": "Radio-Tartaglia syndrome", "MONDO:0859147": "Marbach-Rustad progeroid syndrome", "MONDO:0859150": "BDV syndrome", "MONDO:0859200": "cerebellar ataxia, brain abnormalities, and cardiac conduction defects", "MONDO:0859206": "neurodevelopmental disorder with hearing loss and spasticity", "MONDO:0859219": "Rauch-Steindl syndrome", "MONDO:0859257": "intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism", "MONDO:0859267": "tumor predisposition syndrome 2", "MONDO:0859297": "neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities", "MONDO:0859301": "neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects", "MONDO:0859324": "developmental delay, language impairment, and ocular abnormalities", "MONDO:0859340": "spinocerebellar ataxia 27B, late-onset", "MONDO:0859692": "immune-mediated cerebellar ataxia", "MONDO:0859761": "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome", "MONDO:0859762": "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome", "MONDO:0859763": "mosaic neurofibromatosis type 1", "MONDO:0859764": "mosaic NF2-related schwannomatosis", "MONDO:0859765": "mosaic schwannomatosis", "MONDO:0957001": "obsolete hereditary mixed dermis disorder", "MONDO:0957003": "hereditary neuro-ophthalmological disease", "MONDO:0957008": "hereditary cerebral malformation", "MONDO:0957009": "obsolete hereditary posterior fossa malformation", "MONDO:0957018": "autoinflammatory syndrome of childhood", "MONDO:0957024": "obsolete hereditary 46,XX disorder of sex development", "MONDO:0957025": "obsolete hereditary 46,XY disorder of sex development", "MONDO:0957048": "isolated macular dystrophy", "MONDO:0957097": "hereditary hemolytic uremic syndrome", "MONDO:0957111": "neurological muscular channelopathy due to a genetic sodium channel defect", "MONDO:0957112": "neurological muscular channelopathy due to a genetic chloride channel defect", "MONDO:0957113": "neurological muscular channelopathy due to a genetic calcium channel defect", "MONDO:0957114": "neurological muscular channelopathy due to a genetic potassium channel defect", "MONDO:0957115": "neurological muscular channelopathy due to a genetic ryanodine receptor defect", "MONDO:0957270": "muscular dystrophy, limb-girdle, autosomal recessive 28", "MONDO:0957317": "hematuria, benign familial", "MONDO:0957337": "isolated chorioretinal dystrophy", "MONDO:0957341": "secondary early-onset glaucoma", "MONDO:0957397": "intellectual developmental disorder, autosomal dominant 72", "MONDO:0957403": "periodic fever syndrome of childhood", "MONDO:0957404": "obsolete pyogenic autoinflammatory syndrome of childhood", "MONDO:0957405": "granulomatous autoinflammatory syndrome of childhood", "MONDO:0957408": "type 1 interferonopathy of childhood", "MONDO:0957421": "borna virus encephalitis", "MONDO:0957423": "immunotherapy induced hypophysitis", "MONDO:0957427": "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)", "MONDO:0957428": "B-lymphoblastic leukemia/lymphoma with t(17;19)", "MONDO:0957430": "childhood-onset schizophrenia", "MONDO:0957431": "endogenous Cushing syndrome", "MONDO:0957432": "neonatal compartment syndrome", "MONDO:0957433": "primary pulmonary vein stenosis", "MONDO:0957442": "autosomal recessive ataxia due to PEX16 deficiency", "MONDO:0957443": "autosomal recessive ataxia due to PEX2 deficiency", "MONDO:0957451": "non-terminal myelocystocele", "MONDO:0957452": "segmental arterial mediolysis", "MONDO:0957453": "true myelomeningocele", "MONDO:0957454": "hemi-myelomeningocele", "MONDO:0957456": "classical dermatomyositis", "MONDO:0957458": "adermatopathic dermatomyositis", "MONDO:0957459": "congenital esophageal stenosis", "MONDO:0957460": "spontaneous intestinal perforation", "MONDO:0957461": "primary tuberculous lymphadenitis", "MONDO:0957462": "primary pulmonary tuberculosis", "MONDO:0957463": "primary bone and joint tuberculosis", "MONDO:0957464": "primary cutaneous tuberculosis", "MONDO:0957465": "multifocal tuberculosis", "MONDO:0957466": "primary tuberculosis of the digestive system", "MONDO:0957467": "primary genito-urinary tuberculosis", "MONDO:0957473": "craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome", "MONDO:0957476": "isolated persistent urogenital sinus", "MONDO:0957477": "MYT1L-related developmental delay-intellectual disability-obesity syndrome", "MONDO:0957481": "idiopathic pregnancy-associated osteoporosis", "MONDO:0957487": "idiopathic catatonia", "MONDO:0957556": "congenital pulmonary vein atresia", "MONDO:0958071": "Hao-Fountain syndrome due to USP7 mutation", "MONDO:0958075": "intramedullary non-dysraphic spinal cord lipoma", "MONDO:0958076": "myeloschisis", "MONDO:0958077": "collagen 6-related congenital muscular dystrophy", "MONDO:0958083": "conjoined twins", "MONDO:0958085": "digenic hemochromatosis", "MONDO:0958091": "cleft palate-congenital heart defect-intellectual disability syndrome", "MONDO:0958093": "non-syndromic supernumerary kidneys", "MONDO:0958094": "adult-onset progressive leukoencephalopathy-early-onset deafness", "MONDO:0958095": "Nodal T-follicular helper cell lymphoma, follicular type", "MONDO:0958096": "monomorphic epitheliotropic intestinal T-cell lymphoma", "MONDO:0958097": "primary superior vena cava aneurysm", "MONDO:0958098": "primary inferior vena cava aneurysm", "MONDO:0958099": "idiopathic subglottic stenosis", "MONDO:0958101": "lymphocytic mastitis", "MONDO:0958104": "digenic Alport syndrome", "MONDO:0958106": "congenital insensitivity to pain syndrome, Marsili type", "MONDO:0958110": "atrophic papulosis", "MONDO:0958115": "autosomal recessive combined immunodeficiency due to complete IL6ST deficiency", "MONDO:0958116": "autosomal recessive combined immunodeficiency due to partial IL6ST deficiency", "MONDO:0958117": "autosomal dominant combined immunodeficiency due to partial IL6ST deficiency", "MONDO:0958118": "autosomal recessive combined immunodeficiency due to IL6R deficiency", "MONDO:0958119": "embryonal tumor with multilayered rosettes", "MONDO:0958120": "autosomal dominant combined immunodeficiency due to ERBIN deficiency", "MONDO:0958122": "idiopathic small fibers neuropathy", "MONDO:0958123": "isolated pulmonary artery sling", "MONDO:0958127": "transplant-related bronchiolitis obliterans", "MONDO:0958128": "non-transplant-related bronchiolitis obliterans", "MONDO:0958129": "COQ7-related distal hereditary motor neuropathy", "MONDO:0958130": "Greig cephalopolysyndactyly-contiguous gene syndrome", "MONDO:0958137": "early-onset autoimmune disorder due to DOCK11 partial deficiency", "MONDO:0958138": "early-onset immune dysregulation due to DOCK11 complete deficiency", "MONDO:0958231": "neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism", "MONDO:0958256": "pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome", "MONDO:0958257": "psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome", "MONDO:0958258": "Cushing syndrome due to cortisol-producing adrenocortical adenoma", "MONDO:0958259": "dysraphism with stalk", "MONDO:0958260": "dysraphic spinal cord lipoma", "MONDO:0958262": "isolated primary pigmented nodular adrenocortical disease", "MONDO:0958263": "isolated micronodular adrenocortical disease", "MONDO:0958264": "infectious scleritis", "MONDO:0958265": "idiopathic scleritis", "MONDO:0958266": "immune-mediated scleritis", "MONDO:0958267": "non-syndromic bridging bronchus", "MONDO:0958268": "non-syndromic congenital bronchial atresia", "MONDO:0958269": "isolated left bronchial isomerism", "MONDO:0958270": "central precocious puberty in male", "MONDO:0958273": "cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation", "MONDO:0958274": "benign atrophic papulosis", "MONDO:0958275": "segmental spinal dysgenesis", "MONDO:0958278": "neurodevelopmental disorder with hypotonia and characteristic brain abnormalities", "MONDO:0958342": "isolated optic nerve aplasia", "MONDO:0958343": "PAPASH syndrome", "MONDO:0958344": "spinal dermal sinus", "MONDO:0958345": "limited dorsal myeloschisis", "MONDO:0958346": "isolated transitional filum lipoma", "MONDO:0958347": "isolated filum lipoma", "MONDO:0958348": "retained medullary cord", "MONDO:0958349": "dorsal spinal cord lipoma", "MONDO:0958350": "conus spinal cord lipoma", "MONDO:0958351": "hemi-myeloschisis", "MONDO:0958352": "true myeloschisis", "MONDO:0958353": "intermediate collagen VI-related muscular dystrophy", "MONDO:0958354": "genetic central precocious puberty in female", "MONDO:0958355": "secondary central precocious puberty in female", "MONDO:0958356": "primary central precocious puberty in male", "MONDO:0958357": "secondary central precocious puberty in male", "MONDO:0968955": "hypocalcified amelogenesis imperfecta", "MONDO:0968959": "isolated arhinencephaly", "MONDO:0968986": "chaotic conus spinal cord lipoma", "MONDO:0968987": "extramedullary conus spinal cord lipoma", "MONDO:0968988": "saccular spinal dysraphism with a stalk to the dome", "MONDO:0968989": "non-saccular limited dorsal myeloschisis", "MONDO:0968990": "genetic central precocious puberty in male", "MONDO:0968991": "non-genetic central precocious puberty in male", "MONDO:0970957": "terminal extramedullary conus spinal cord lipoma", "MONDO:0970958": "transitional extramedullary conus spinal cord lipoma", "MONDO:0970959": "posterior extramedullary conus spinal cord lipoma", "MONDO:0970960": "lipomatous non-saccular limited dorsal myeloschisis", "MONDO:0970961": "fibroneural non-saccular limited dorsal myeloschisis", "MONDO:0970962": "terminal myelocystocele", "MONDO:0970963": "saccular limited dorsal myeloschisis", "MONDO:0970964": "myelic limited dorsal malformation", "MONDO:0971007": "neuroocular syndrome 1", "MONDO:0971047": "PRC-2 complex-related overgrowth spectrum", "MONDO:0971049": "single isolated optic neuritis", "MONDO:0971050": "relapsing isolated optic neuritis", "MONDO:0971056": "ocular surface squamous neoplasia", "MONDO:0971058": "verruga peruana", "MONDO:0971062": "developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation", "MONDO:0971063": "autosomal dominant dopa-responsive dystonia", "MONDO:0971064": "orofacial clefting-cardiac anomalies-facial dysmorphism syndrome", "MONDO:0971066": "megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency", "MONDO:0971068": "Phelan-McDermid syndrome due to 22q13.3 deletion", "MONDO:0971069": "Phelan-McDermid syndrome due to SHANK3 mutation", "MONDO:0971077": "episodic memory defect leukoencephalopathy", "MONDO:0971080": "Grisel syndrome", "MONDO:0971091": "acute megakaryoblastic leukemia in adult", "MONDO:0971092": "soft and hard cleft palate", "MONDO:0971093": "MGP-related spondyloepiphyseal dysplasia", "MONDO:0971094": "cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation", "MONDO:0971095": "6q25.1 microdeletion syndrome", "MONDO:0971103": "Nicolau syndrome", "MONDO:0971105": "neonatal renal venous thrombosis", "MONDO:0971107": "common arterial trunk with aortic dominance", "MONDO:0971108": "common arterial trunk with pulmonary dominance and interrupted aortic arch", "MONDO:0971111": "intraoral basal cell carcinoma", "MONDO:0971115": "benign vascular tumor", "MONDO:0971116": "borderline vascular tumor", "MONDO:0971118": "pilocytic astrocytoma with histological features of anaplasia", "MONDO:0971119": "proteoglycan-related bone disorder", "MONDO:0971123": "isolated retinal racemose hemangioma", "MONDO:0971124": "perifoveal exudative vascular anomalous complex", "MONDO:0971125": "torpedo maculopathy", "MONDO:0971126": "isolated angioid streaks", "MONDO:0971127": "diffuse unilateral subacute neuroretinitis", "MONDO:0971128": "multiple evanescent white dot syndrome", "MONDO:0971129": "stellate multiform amelanotic choroidopathy", "MONDO:0971130": "choroidal osteoma", "MONDO:0971131": "bilateral diffuse uveal melanocytic proliferation disease", "MONDO:0971133": "isolated segmental infantile hemangioma", "MONDO:0971137": "severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome", "MONDO:0971138": "progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN", "MONDO:0971140": "well-differentiated papillary mesothelial tumour of the pleura", "MONDO:0971141": "localized pleural mesothelioma", "MONDO:0971142": "diffused pleural mesothelioma", "MONDO:0971143": "pleural mesothelioma in situ", "MONDO:0971145": "peritoneal mesothelioma in situ", "MONDO:0971154": "hepatic cutaneous porphyria", "MONDO:0971172": "neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language", "MONDO:0975751": "brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation", "MONDO:0975752": "littoral cell hemangioma of the spleen", "MONDO:0975753": "papillary hemangioma", "MONDO:0975754": "pseudomyogenic hemangioendothelioma", "MONDO:0975755": "eccrine angiomatous hamartoma", "MONDO:0975756": "reactive angioendotheliomatosis", "MONDO:0975757": "anastomosing haemangioma", "MONDO:0975758": "microvenular haemangioma", "MONDO:0975759": "acquired elastotic haemangioma", "MONDO:1040032": "EN1-related dorsoventral syndrome", "MONDO:1040033": "congenital muscular dystrophy without intellectual disability", "MONDO:1060108": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "MONDO:8000006": "WHIM syndrome 1", "MONDO:8000008": "Martsolf syndrome 1", "MONDO:8000010": "antiphospholipid syndrome", "MONDO:8000011": "visceral neuropathy, familial, 1, autosomal recessive", "MONDO:8000012": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1", "MONDO:8000015": "46,XY sex reversal 11", "MONDO:8000030": "obsolete morphological anomaly", "MONDO:8000031": "obsolete subtype of a disorder", "MONDO:8000032": "obsolete malformation syndrome", "MONDO:8000033": "obsolete group of disorders", "MONDO:8000034": "obsolete disorder", "MONDO:0000070": "Mycobacterium tuberculosis, susceptibility", "MONDO:0000208": "microcephaly, short stature, and impaired glucose metabolism 1", "MONDO:0000908": "arrhythmogenic right ventricular dysplasia 13", "MONDO:0000909": "Bartter disease type 4B", "MONDO:0000910": "retinitis pigmentosa 6", "MONDO:0000911": "dilated cardiomyopathy 1T", "MONDO:0000912": "autosomal recessive nonsyndromic deafness 5", "MONDO:0000913": "hereditary spherocytosis type 2", "MONDO:0001046": "imperforate anus", "MONDO:0001056": "gastric cancer", "MONDO:0002009": "major depressive disorder", "MONDO:0002974": "cervical cancer", "MONDO:0004573": "ariboflavinosis", "MONDO:0004743": "hyperhomocysteinemia", "MONDO:0004914": "median arcuate ligament syndrome", "MONDO:0004951": "susceptibility to HIV infection", "MONDO:0004980": "atopic eczema", "MONDO:0005002": "chronic obstructive pulmonary disease", "MONDO:0005148": "type 2 diabetes mellitus", "MONDO:0005260": "autism (disease)", "MONDO:0005298": "osteoporosis", "MONDO:0005579": "generalised epilepsy", "MONDO:0007030": "autosomal dominant Aarskog syndrome", "MONDO:0007033": "abducens nerve palsy", "MONDO:0007036": "Achard syndrome", "MONDO:0007038": "Achoo syndrome", "MONDO:0007044": "acrodysostosis 1 with or without hormone resistance", "MONDO:0007046": "hereditary papulotranslucent acrokeratoderma", "MONDO:0007049": "acroleukopathy, symmetric", "MONDO:0007052": "growth hormone secreting pituitary adenoma 1", "MONDO:0007053": "restless legs syndrome 1", "MONDO:0007054": "acromial dimples", "MONDO:0007056": "acroosteolysis", "MONDO:0007060": "spermatogenic failure 6", "MONDO:0007061": "acylase, cobalt-activated", "MONDO:0007067": "pyruvate kinase hyperactivity", "MONDO:0007071": "adrenocortical hypofunction, chronic primary congenital", "MONDO:0007074": "ainhum (disease)", "MONDO:0007075": "alacrima, congenital, autosomal dominant", "MONDO:0007079": "alcohol dependence", "MONDO:0007082": "alopecia areata 1", "MONDO:0007084": "familial focal alopecia", "MONDO:0007087": "alternating hemiplegia of childhood 1", "MONDO:0007088": "Alzheimer disease type 1", "MONDO:0007089": "Alzheimer disease 2", "MONDO:0007090": "amastia, bilateral, with ureteral triplication and dysmorphism", "MONDO:0007091": "amelia and terminal transverse hemimelia", "MONDO:0007092": "amelogenesis imperfecta type 1B", "MONDO:0007094": "amelogenesis imperfecta type 1A", "MONDO:0007096": "amenorrhea-galactorrhea syndrome", "MONDO:0007102": "amyotrophic dystonic paraplegia", "MONDO:0007103": "amyotrophic lateral sclerosis type 1", "MONDO:0007105": "frontotemporal dementia with motor neuron disease 1", "MONDO:0007106": "anal sphincter dysplasia", "MONDO:0007107": "anal sphincter myopathy, internal", "MONDO:0007110": "Diamond-Blackfan anemia 1", "MONDO:0007111": "aneurysm, intracranial berry type 1", "MONDO:0007115": "angioma serpiginosum, autosomal dominant", "MONDO:0007121": "aniridia, microcornea, and spontaneously Reabsorbed cataract", "MONDO:0007122": "anisocoria (disease)", "MONDO:0007125": "ankyloglossia", "MONDO:0007126": "spondyloarthropathy, susceptibility to, 1", "MONDO:0007128": "annular erythema", "MONDO:0007129": "tooth agenesis, selective, 1", "MONDO:0007132": "anonychia-ectrodactyly", "MONDO:0007135": "nonsyndromic congenital nail disorder 6", "MONDO:0007136": "genetic anorectal anomalies", "MONDO:0007138": "anterior segment dysgenesis 1", "MONDO:0007139": "Antipyrine metabolism", "MONDO:0007141": "antiviral state repressor, regulator of", "MONDO:0007144": "aortic arch interruption, facial palsy, and retinal coloboma", "MONDO:0007147": "obstructive sleep apnea syndrome", "MONDO:0007148": "appendicitis, proneness to", "MONDO:0007149": "arbitrary restriction polymorphism 1", "MONDO:0007150": "arcus senilis", "MONDO:0007151": "arms, malformation of", "MONDO:0007152": "arrhythmogenic right ventricular dysplasia 1", "MONDO:0007153": "arteries, anomalies of", "MONDO:0007155": "arteritis, familial granulomatous, with juvenile polyarthritis", "MONDO:0007156": "arthritis, sacroiliac", "MONDO:0007157": "arthrogryposis, distal, type 1A", "MONDO:0007161": "SPGF2", "MONDO:0007162": "asymmetric short stature syndrome", "MONDO:0007166": "ataxia with fasciculations", "MONDO:0007169": "atherosclerosis susceptibility", "MONDO:0007170": "atresia of external auditory canal and conductive deafness", "MONDO:0007171": "atrial standstill 1", "MONDO:0007172": "atrial heart septal defect 1", "MONDO:0007175": "Pr interval, variation 1N", "MONDO:0007179": "autoimmune disease", "MONDO:0007181": "axial osteomalacia", "MONDO:0007183": "azotemia, familial", "MONDO:0007184": "AGA1", "MONDO:0007186": "gastroesophageal reflux disease", "MONDO:0007189": "B-cell growth factor", "MONDO:0007190": "leukemia, chronic lymphocytic, susceptibility to, 2", "MONDO:0007192": "AABT", "MONDO:0007193": "primary biliary cholangitis 1", "MONDO:0007195": "bifid nose, autosomal dominant", "MONDO:0007197": "bladder diverticulum (disease)", "MONDO:0007199": "blepharochalasis, superior", "MONDO:0007204": "Cole-Carpenter syndrome 1", "MONDO:0007206": "bone pain, periodic", "MONDO:0007210": "Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay", "MONDO:0007223": "brachydactyly type E1", "MONDO:0007224": "brachydactyly, type E, with atrial septal defect, type 2", "MONDO:0007228": "brachymesomelia-renal syndrome", "MONDO:0007229": "Brachymetatarsus 4", "MONDO:0007234": "branchial myoclonus with spastic paraparesis and cerebellar ataxia", "MONDO:0007236": "branchiootorenal syndrome 1", "MONDO:0007240": "progressive familial heart block, type 1A", "MONDO:0007241": "bundle branch block, familial isolated complete right", "MONDO:0007242": "butyrylesterase 1", "MONDO:0007246": "calcific aortic disease with immunologic abnormalities, familial", "MONDO:0007247": "basal ganglia calcification, idiopathic, childhood-onset", "MONDO:0007253": "cancer, familial, with in vitro Radioresistance", "MONDO:0007257": "CANDF1", "MONDO:0007258": "canine teeth, absence of upper permanent", "MONDO:0007260": "Car factor deficiency", "MONDO:0007261": "Carabelli anomaly of maxillary molar teeth", "MONDO:0007265": "cardiofaciocutaneous syndrome 1", "MONDO:0007266": "hypertrophic cardiomyopathy 2", "MONDO:0007267": "hypertrophic cardiomyopathy 3", "MONDO:0007268": "hypertrophic cardiomyopathy 4", "MONDO:0007270": "cardiomyopathy, familial restrictive, 1", "MONDO:0007273": "paragangliomas 4", "MONDO:0007274": "carpal displacement", "MONDO:0007278": "cataract 32 multiple types", "MONDO:0007279": "cataract 7", "MONDO:0007281": "cataract 4 multiple types", "MONDO:0007282": "cataract 29", "MONDO:0007283": "cataract 42", "MONDO:0007284": "cataract 20 multiple types", "MONDO:0007285": "cataract 1 multiple types", "MONDO:0007286": "cataract 30", "MONDO:0007287": "cataract 41", "MONDO:0007288": "cataract 6 multiple types", "MONDO:0007289": "cataract 13 with adult I phenotype", "MONDO:0007290": "cataract 5 multiple types", "MONDO:0007300": "cerebral sarcoma", "MONDO:0007302": "cervical hypertrichosis with underlying kyphoscoliosis", "MONDO:0007303": "cervical rib", "MONDO:0007304": "cervical vertebral Bridge", "MONDO:0007305": "cervical vertebral dysplasia (disease)", "MONDO:0007306": "Klippel-Feil syndrome 1, autosomal dominant", "MONDO:0007310": "Charcot-Marie-Tooth disease, Guadalajara neuronal type", "MONDO:0007312": "Charcot-Marie-Tooth disease with ptosis and parkinsonism", "MONDO:0007314": "chemodectoma, intraabdominal, with cutaneous angiolipomas", "MONDO:0007317": "chlorpropamide-alcohol flushing", "MONDO:0007320": "chondrocalcinosis due to apatite crystal deposition", "MONDO:0007323": "Chondronectin", "MONDO:0007325": "choreoathetosis, familial inverted", "MONDO:0007327": "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase", "MONDO:0007328": "choroidal osteoma, bilateral", "MONDO:0007329": "cirrhosis, familial", "MONDO:0007331": "cleft chin", "MONDO:0007332": "SHFLD1", "MONDO:0007333": "van der Woude syndrome 1", "MONDO:0007335": "OFC1", "MONDO:0007336": "isolated cleft palate", "MONDO:0007342": "clubfoot", "MONDO:0007344": "cluster headache, familial", "MONDO:0007347": "obsolete Coxsackievirus B3 susceptibility", "MONDO:0007348": "colchicine resistance", "MONDO:0007349": "familial cold autoinflammatory syndrome 1", "MONDO:0007350": "coloboma, ocular, autosomal dominant", "MONDO:0007356": "Lynch syndrome 1", "MONDO:0007357": "colonic varices without portal hypertension", "MONDO:0007358": "comedones, familial Dyskeratotic", "MONDO:0007359": "commissural lip pits", "MONDO:0007360": "branchiootic syndrome 2", "MONDO:0007362": "cone-rod dystrophy 2", "MONDO:0007364": "arthrogryposis, distal, type 2E", "MONDO:0007365": "seizures, benign familial neonatal, 1", "MONDO:0007366": "seizures, benign familial neonatal, 2", "MONDO:0007367": "FEB1", "MONDO:0007370": "coracoclavicular joint, anomalous", "MONDO:0007371": "cornea guttata with anterior polar cataracts", "MONDO:0007372": "cornea plana 1, autosomal dominant", "MONDO:0007373": "corneal degeneration, ribbonlike, with deafness", "MONDO:0007378": "posterior polymorphous corneal dystrophy 1", "MONDO:0007386": "HCVS", "MONDO:0007387": "Cornelia de Lange syndrome 1", "MONDO:0007389": "spondylocostal dysostosis 5", "MONDO:0007390": "coumarin resistance", "MONDO:0007391": "coxa vara (disease)", "MONDO:0007397": "craniometaphyseal dysplasia, autosomal dominant", "MONDO:0007399": "craniosynostosis 1", "MONDO:0007402": "creatine phosphokinase, elevated serum", "MONDO:0007406": "cryofibrinogenemia, familial primary", "MONDO:0007408": "cryptotia, familial", "MONDO:0007411": "cutis laxa, autosomal dominant 1", "MONDO:0007415": "mitochondrial complex III deficiency nuclear type 1", "MONDO:0007416": "Balkan nephropathy", "MONDO:0007418": "Darwinian tubercle of pinna", "MONDO:0007423": "deafness, mid-tone neural", "MONDO:0007424": "autosomal dominant nonsyndromic deafness 1", "MONDO:0007425": "deafness, sensorineural, with peripheral neuropathy and arterial disease", "MONDO:0007426": "deafness, unilateral", "MONDO:0007427": "deafness with anhidrotic ectodermal dysplasia", "MONDO:0007429": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy", "MONDO:0007430": "dens evaginatus", "MONDO:0007431": "dens in dente and palatal invaginations", "MONDO:0007433": "dementia/parkinsonism with non-Alzheimer amyloid plaques", "MONDO:0007439": "deoxyribose-5-phosphate aldolase deficiency", "MONDO:0007440": "major affective disorder 1", "MONDO:0007444": "dermal Ridges, patternless", "MONDO:0007446": "dermatosis papulosa nigra", "MONDO:0007448": "familial dermatographia", "MONDO:0007451": "diabetes insipidus, nephrogenic, autosomal", "MONDO:0007452": "maturity-onset diabetes of the young type 1", "MONDO:0007453": "maturity-onset diabetes of the young type 2", "MONDO:0007454": "type 1 diabetes mellitus 2", "MONDO:0007456": "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency", "MONDO:0007457": "diastema, dental medial", "MONDO:0007458": "digitotalar dysmorphism; ulnar drift, hereditary", "MONDO:0007459": "dilution, pigmentary", "MONDO:0007460": "discrimination, Two-point, reduction 1N", "MONDO:0007463": "distal osteosclerosis", "MONDO:0007466": "DNA, satellite, 3", "MONDO:0007467": "DNA, low-repetitive sequences of", "MONDO:0007468": "DNA, satellite, alpha type", "MONDO:0007469": "double nail for fifth toe", "MONDO:0007472": "basal laminar drusen", "MONDO:0007474": "duodenal ulcer due to antral G-cell hyperfunction", "MONDO:0007475": "duodenal ulcer, hyperpepsinogenemic 1", "MONDO:0007479": "dwarfism, Levi type", "MONDO:0007485": "dyskeratosis congenita, autosomal dominant 1", "MONDO:0007487": "dyslexia, susceptibility to, 1", "MONDO:0007491": "dystelephalangy", "MONDO:0007495": "dystonia 5", "MONDO:0007497": "ear antitragus, tag at base of", "MONDO:0007498": "ear exostoses", "MONDO:0007499": "ear folding", "MONDO:0007500": "ear malformation", "MONDO:0007501": "preauricular fistulae, congenital", "MONDO:0007502": "ear pits, posterior helical", "MONDO:0007503": "ear without helix", "MONDO:0007505": "earring holes, natural", "MONDO:0007506": "obsoleted echo virus 11 sensitivity", "MONDO:0007509": "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant", "MONDO:0007512": "ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet", "MONDO:0007514": "ectopia lentis 1, isolated, autosomal dominant", "MONDO:0007515": "ectopia pupillae (disease)", "MONDO:0007518": "edema, familial idiopathic, prepubertal", "MONDO:0007520": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1", "MONDO:0007521": "egasyn", "MONDO:0007524": "autosomal dominant Ehlers-Danlos syndrome, vascular type", "MONDO:0007528": "Ehlers-Danlos syndrome, autosomal dominant, type unspecified", "MONDO:0007530": "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon", "MONDO:0007531": "electroencephalographic peculiarity: fronto-precentral beta wave groups", "MONDO:0007532": "Electroencephalographic peculiarity: occipital slow beta waves", "MONDO:0007533": "elliptocytosis 2", "MONDO:0007535": "emphysema, hereditary pulmonary", "MONDO:0007538": "amelogenesis imperfecta, type 3A", "MONDO:0007541": "endometriosis, susceptibility to, 1", "MONDO:0007544": "eosinophilia, familial", "MONDO:0007545": "Eosinophilopenia", "MONDO:0007546": "myeloproliferative disorder, chronic, with eosinophilia", "MONDO:0007547": "epidermoid cysts", "MONDO:0007553": "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase", "MONDO:0007557": "epidermolysis bullosa with congenital localized absence of skin and deformity of nails", "MONDO:0007559": "PPR1", "MONDO:0007567": "Epstein-Barr virus insertion site 1", "MONDO:0007568": "aortic aneurysm, familial thoracic 4", "MONDO:0007569": "erythema nodosum, familial", "MONDO:0007573": "acute erythroleukemia, familial", "MONDO:0007576": "esophageal cancer", "MONDO:0007577": "esophageal ring, lower", "MONDO:0007578": "esterase B", "MONDO:0007579": "esterase C", "MONDO:0007580": "esterase ES-2, regulator for", "MONDO:0007581": "exchondrosis of pinna, posterior", "MONDO:0007583": "exostoses of heel", "MONDO:0007585": "exostoses, multiple, type 1", "MONDO:0007586": "exostoses, multiple, type 2", "MONDO:0007589": "exudative vitreoretinopathy 1", "MONDO:0007591": "facial hypertrichosis (disease)", "MONDO:0007593": "facial spasm", "MONDO:0007594": "factor 5 excess with spontaneous thrombosis", "MONDO:0007595": "factor VII and Factor VIII, combined deficiency of", "MONDO:0007597": "factor VIII and Factor IX, combined deficiency of", "MONDO:0007598": "factors VIII, IX and XI, combined deficiency of", "MONDO:0007599": "factor 9 and Factor XI, combined deficiency of", "MONDO:0007601": "familial Mediterranean fever, autosomal dominant", "MONDO:0007602": "obsolete favism, susceptibility to", "MONDO:0007605": "fibrinolytic defect", "MONDO:0007609": "fibromatosis, gingival, 1", "MONDO:0007616": "fibula, recurrent dislocation of head of", "MONDO:0007617": "Coffin-Siris syndrome 1", "MONDO:0007622": "flood factor deficiency", "MONDO:0007623": "flushing of ears and somnolence", "MONDO:0007625": "focal epithelial hyperplasia of the oral mucosa", "MONDO:0007628": "foveal hypoplasia 1", "MONDO:0007629": "fragile site 10Q23", "MONDO:0007631": "chromosome 16p12.1 deletion syndrome, 520kb", "MONDO:0007632": "fragile site, Distamycin a type, rare, fra(16)(q22.1)", "MONDO:0007633": "Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness", "MONDO:0007634": "intellectual disability, FRA12A type", "MONDO:0007637": "corneal dystrophy, Fuchs endothelial, 1", "MONDO:0007638": "fucosidase regulator", "MONDO:0007641": "Futcher line", "MONDO:0007643": "gamma-A-globulin, defect in assembly of", "MONDO:0007644": "IgAD1", "MONDO:0007645": "gastric sneezing", "MONDO:0007647": "gastric volvulus, intrathoracic", "MONDO:0007649": "gastric juice peptides", "MONDO:0007653": "genochondromatosis", "MONDO:0007654": "genu valgum, st. Helena familial", "MONDO:0007655": "fissured tongue", "MONDO:0007657": "giant neutrophil leukocytes", "MONDO:0007659": "obsolete giant platelet syndrome with thrombocytopenia", "MONDO:0007662": "anterior segment dysgenesis 4", "MONDO:0007663": "glaucoma with elevated episcleral venous pressure", "MONDO:0007664": "glaucoma 1, open angle, A", "MONDO:0007668": "globulin anomaly involving beta (2A)-globulin", "MONDO:0007673": "Glucoglycinuria", "MONDO:0007674": "glucose-6-phosphate dehydrogenase-like", "MONDO:0007675": "glutamic acid decarboxylase, brain, membrane form", "MONDO:0007676": "glutathione transferase activity toward trans-stilbene oxide", "MONDO:0007677": "hyperglycinuria (disease)", "MONDO:0007678": "glycoprotein, renal", "MONDO:0007682": "granddad syndrome", "MONDO:0007685": "granulosis rubra nasi", "MONDO:0007687": "graying of hair, precocious", "MONDO:0007689": "guanylate kinase 3", "MONDO:0007691": "chronic inflammatory demyelinating polyneuropathy", "MONDO:0007692": "hairy ears", "MONDO:0007694": "hairy nose tip", "MONDO:0007695": "hairy palms and soles", "MONDO:0007697": "hand clasping pattern", "MONDO:0007701": "progressive familial heart block type II", "MONDO:0007704": "osteoarthritis susceptibility 2", "MONDO:0007707": "hemangiomas of small intestine", "MONDO:0007709": "hematuria, benign familial", "MONDO:0007715": "hemolytic Poikilocytic anemia due to reduced ankyrin binding sites", "MONDO:0007717": "hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain", "MONDO:0007718": "hepatic adenomas, familial", "MONDO:0007719": "diaphragmatic hernia, congenital 1", "MONDO:0007720": "hernia, double inguinal", "MONDO:0007721": "hiatus hernia (disease)", "MONDO:0007722": "heterochromia iridis (disease)", "MONDO:0007723": "Hirschsprung disease, susceptibility to, 1", "MONDO:0007728": "acne inversa, familial, 1", "MONDO:0007729": "DDH1", "MONDO:0007730": "histiocytic dermatoarthritis", "MONDO:0007731": "obsolete HLA modifier", "MONDO:0007733": "holoprosencephaly 3", "MONDO:0007734": "holoprosencephaly 4", "MONDO:0007742": "5-hydroxytryptamine oxygenase regulator", "MONDO:0007746": "orthostatic hypotensive disorder, Streeten type", "MONDO:0007748": "hypercalciuria, absorptive, 2", "MONDO:0007750": "hypercholesterolemia, familial", "MONDO:0007751": "hypercholesterolemia, autosomal dominant, type b", "MONDO:0007752": "hyperheparinemia", "MONDO:0007754": "HYPRPP", "MONDO:0007755": "hyperimmunoglobulin G1(A1) syndrome", "MONDO:0007759": "hyperlipidemia, familial combined, LPL related", "MONDO:0007760": "hyperlipoproteinemia, type II, and deafness", "MONDO:0007763": "nonpapillary renal cell carcinoma", "MONDO:0007767": "hyperparathyroidism 1", "MONDO:0007769": "hyperpigmentation of eyelid", "MONDO:0007770": "hyperpigmentation of Fuldauer and Kuijpers", "MONDO:0007771": "hyperpigmentation with or without hypopigmentation, familial progressive", "MONDO:0007773": "hyperproglucagonemia", "MONDO:0007774": "hyperreflexia (disease)", "MONDO:0007775": "hypersecretion of adrenal androgens, familial", "MONDO:0007776": "hypersensitivity pneumonitis, familial", "MONDO:0007777": "hypertaurinuric cardiomyopathy", "MONDO:0007778": "hypertelorism (disease)", "MONDO:0007781": "essential hypertension, genetic", "MONDO:0007782": "hyperthermia, cutaneous, with headaches and nausea", "MONDO:0007783": "malignant hyperthermia, susceptibility to, 1", "MONDO:0007785": "hyperthyroxinemia, dystransthyretinemic", "MONDO:0007788": "hypertriglyceridemia, familial", "MONDO:0007789": "hypertrophia musculorum vera", "MONDO:0007794": "hypogonadotropic hypogonadism 7 with or without anosmia", "MONDO:0007796": "hypoparathyroidism, familial isolated", "MONDO:0007799": "hypophosphatemic bone disease", "MONDO:0007801": "obsolete hypoplasia of teeth roots", "MONDO:0007802": "hypospadias 3, autosomal", "MONDO:0007805": "hypotrichosis 2", "MONDO:0007807": "hypoxanthine guanine phosphoribosyltransferase suppressor", "MONDO:0007812": "ichthyosis, lamellar, autosomal dominant", "MONDO:0007814": "immune deficiency, familial variable", "MONDO:0007816": "immune suppression", "MONDO:0007817": "IgE responsiveness, atopic", "MONDO:0007821": "immunoglobulin switch sequences", "MONDO:0007822": "incisors, long upper central", "MONDO:0007823": "insulin receptors, familial increase 1N", "MONDO:0007824": "incisors, lower central, absence of", "MONDO:0007825": "incisors, rotation of upper central", "MONDO:0007826": "incisors, shovel-shaped", "MONDO:0007828": "indifference to pain, congenital, autosomal dominant", "MONDO:0007829": "cholestasis, intrahepatic, of pregnancy, 1", "MONDO:0007830": "insensitivity to pain with hyperplastic Myelinopathy", "MONDO:0007831": "insect Stings, hypersensitivity to", "MONDO:0007832": "interferon antiviral depressor", "MONDO:0007833": "iris pigment layer, cleavage of", "MONDO:0007834": "islet cell adenomatosis", "MONDO:0007835": "intussusception", "MONDO:0007840": "internal carotid artery, spontaneous dissection of", "MONDO:0007843": "Kabuki syndrome 1", "MONDO:0007844": "hypogonadotropic hypogonadism 2 with or without anosmia", "MONDO:0007845": "Kaposi sarcoma, susceptibility to", "MONDO:0007847": "keloid formation", "MONDO:0007850": "autosomal dominant keratitis-ichthyosis-deafness syndrome", "MONDO:0007851": "keratoconus 1", "MONDO:0007855": "keratosis, familial actinic", "MONDO:0007858": "palmoplantar keratoderma, punctate type 1A", "MONDO:0007859": "palmoplantar keratoderma i, striate, focal, or diffuse", "MONDO:0007865": "knuckle pads", "MONDO:0007867": "nonsyndromic congenital nail disorder 2", "MONDO:0007868": "hyperekplexia 1", "MONDO:0007869": "Kyrle disease", "MONDO:0007870": "labia minora, incomplete adhesion of", "MONDO:0007873": "lactic acidosis, chronic adult form", "MONDO:0007877": "LAP", "MONDO:0007881": "tooth agenesis, selective, 4", "MONDO:0007882": "lattice degeneration of retina leading to retinal detachment", "MONDO:0007884": "leg ulcers, familial, of juvenile onset", "MONDO:0007886": "uterine corpus leiomyoma", "MONDO:0007887": "leiomyoma of vulva and esophagus", "MONDO:0007890": "lentiginosis, centrofacial neurodysraphic", "MONDO:0007898": "leukocyte nuclear appendages, hereditary prevalence of", "MONDO:0007900": "nonsyndromic congenital nail disorder 3", "MONDO:0007901": "levator-medial rectus synkinesis", "MONDO:0007902": "lichen planus, familial", "MONDO:0007905": "lip, hamartomatous", "MONDO:0007907": "lipoma of the conjunctiva", "MONDO:0007910": "lipoprotein types--Lt system", "MONDO:0007911": "lipoprotein, variant of beta", "MONDO:0007912": "lithium transport", "MONDO:0007913": "low density lipoprotein, variation in molecular weight of", "MONDO:0007914": "lumbar stenosis, familial", "MONDO:0007923": "macrocephaly, benign familial", "MONDO:0007930": "Bernard-Soulier syndrome, type A2, autosomal dominant", "MONDO:0007932": "age related macular degeneration 2", "MONDO:0007933": "vitelliform macular dystrophy 1", "MONDO:0007936": "macular dystrophy, fenestrated sheen type", "MONDO:0007938": "46,XY sex reversal 4", "MONDO:0007939": "malignant hyperthermia, susceptibility to, 2", "MONDO:0007940": "malignant hyperthermia, susceptibility to, 3", "MONDO:0007941": "malocclusion due to protuberant upper front teeth", "MONDO:0007942": "Mammastatin", "MONDO:0007944": "Treacher-Collins syndrome 1", "MONDO:0007945": "mannose 6-phosphate receptor recognition defect, Lebanese type", "MONDO:0007948": "marfanoid hypermobility syndrome", "MONDO:0007951": "masticatory muscles, hypertrophy of", "MONDO:0007952": "maxillofacial dysostosis", "MONDO:0007955": "Meckel's diverticulum", "MONDO:0007957": "mediosternal depigmentation line", "MONDO:0007961": "megalencephaly, autosomal dominant", "MONDO:0007962": "Megalodactyly", "MONDO:0007963": "melanoma, cutaneous malignant, susceptibility to, 1", "MONDO:0007964": "dysplastic nevus syndrome", "MONDO:0007965": "melanoma, malignant familial intraocular", "MONDO:0007968": "melanoma tumor antigen Gp90", "MONDO:0007973": "mental and growth retardation with amblyopia", "MONDO:0007974": "intellectual disability, autosomal dominant 1", "MONDO:0007975": "meralgia paraesthetica, familial", "MONDO:0007976": "mesomelic dwarfism of hypoplastic tibia and radius type", "MONDO:0007980": "metachromasia of fibroblasts", "MONDO:0007981": "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a", "MONDO:0007985": "metatarsus varus, type 1", "MONDO:0007994": "micromelic bone dysplasia with cloverleaf skull", "MONDO:0007995": "MCOPCT1", "MONDO:0007996": "microphthalmia, isolated, with corectopia", "MONDO:0007997": "microspherophakia with hernia", "MONDO:0007999": "holoprosencephaly 2", "MONDO:0008000": "migraine with or without aura, susceptibility to, 1", "MONDO:0008001": "milia, multiple eruptive", "MONDO:0008002": "mirror movements 1", "MONDO:0008010": "antigen defined by monoclonal antibody Aj9", "MONDO:0008011": "antigen defined by monoclonal antibody T87", "MONDO:0008012": "Monophalangy of great toe", "MONDO:0008014": "nondisjunction", "MONDO:0008015": "motion sickness", "MONDO:0008020": "multiple exostoses with spastic tetraparesis", "MONDO:0008021": "Cowden syndrome 1", "MONDO:0008022": "muscle cramps, familial", "MONDO:0008024": "neuronopathy, distal hereditary motor, type 7A", "MONDO:0008025": "neuronopathy, distal hereditary motor, type 2A", "MONDO:0008027": "muscular atrophy, malignant neurogenic", "MONDO:0008028": "muscular dystrophy, Barnes type", "MONDO:0008030": "facioscapulohumeral muscular dystrophy 1", "MONDO:0008031": "facioscapulohumeral muscular dystrophy 2", "MONDO:0008034": "muscular dystrophy, pseudohypertrophic, with Internalized capillaries", "MONDO:0008035": "muscular hypoplasia, congenital universal, of Krabbe", "MONDO:0008036": "myasthenia, limb-girdle, autoimmune", "MONDO:0008037": "myelinated optic nerve fibers", "MONDO:0008041": "myoclonic epilepsy, Hartung type", "MONDO:0008044": "myoclonic dystonia 11", "MONDO:0008049": "myopathy, distal, infantile-onset", "MONDO:0008052": "myopathy with storage of glycoproteins and Glycosaminoglycans", "MONDO:0008053": "MYP2", "MONDO:0008055": "myotonia congenita, autosomal dominant", "MONDO:0008057": "Carney complex, type 1", "MONDO:0008062": "narcolepsy 1", "MONDO:0008063": "nasal alar collapse, bilateral", "MONDO:0008064": "nasal bones, absence of", "MONDO:0008065": "nasal groove, familial transverse", "MONDO:0008066": "nasal hyperpigmentation, familial transverse", "MONDO:0008067": "nasopharyngeal carcinoma, susceptibility to, 2", "MONDO:0008068": "navicular bone, accessory", "MONDO:0008069": "necrotizing encephalomyelopathy, subacute, of Leigh, adult", "MONDO:0008072": "IGAN1", "MONDO:0008074": "nerve growth factor, alpha subunit", "MONDO:0008076": "amyotrophic neuralgia", "MONDO:0008078": "neurofibromatosis, familial spinal", "MONDO:0008079": "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome", "MONDO:0008080": "neurofibromatosis, type III, mixed central and peripheral", "MONDO:0008081": "neurofibromatosis, type IV, of Riccardi", "MONDO:0008084": "neuropathy, congenital, with arthrogryposis multiplex", "MONDO:0008085": "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance", "MONDO:0008086": "neuropathy, hereditary sensory and autonomic, type 1A", "MONDO:0008088": "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine", "MONDO:0008089": "neutropenia, chronic familial", "MONDO:0008091": "abnormal neutrophil chemotactic response", "MONDO:0008093": "nevus, epidermal", "MONDO:0008095": "nevus anemicus (disease)", "MONDO:0008096": "nevus flammeus of nape of neck", "MONDO:0008099": "congenital stationary night blindness autosomal dominant 2", "MONDO:0008100": "nipples inverted", "MONDO:0008102": "sick sinus syndrome 2, autosomal dominant", "MONDO:0008103": "noduli Cutanei, multiple, with urinary tract abnormalities", "MONDO:0008104": "Noonan syndrome 1", "MONDO:0008105": "nose, anomalous shape of", "MONDO:0008106": "NYS2", "MONDO:0008107": "nystagmus, hereditary vertical", "MONDO:0008110": "ocular dominance", "MONDO:0008114": "obsessive-compulsive disorder", "MONDO:0008121": "onychogryposis, pedal, with keratosis plantaris and coarse hair", "MONDO:0008124": "omphalocele, autosomal", "MONDO:0008125": "nonsyndromic congenital nail disorder 5", "MONDO:0008126": "oncogene Yuasa", "MONDO:0008128": "ophthalmoplegia, familial static", "MONDO:0008129": "ophthalmoplegia, familial total, with iris transillumination", "MONDO:0008131": "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant", "MONDO:0008132": "optic atrophy with demyelinating disease of CNS", "MONDO:0008135": "optic atrophy with negative Electroretinograms", "MONDO:0008140": "ossified ear cartilages", "MONDO:0008141": "ossicular malformations, familial", "MONDO:0008143": "osteoarthritis susceptibility 1", "MONDO:0008149": "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures", "MONDO:0008154": "osteomas of mandible", "MONDO:0008160": "osteosclerosis with ichthyosis and fractures", "MONDO:0008162": "otitis media, susceptibility to", "MONDO:0008164": "OTSC1", "MONDO:0008166": "ovalocytosis, hereditary hemolytic, with defective erythropoiesis", "MONDO:0008167": "dermoid cyst of ovary", "MONDO:0008169": "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension", "MONDO:0008172": "PHOAD", "MONDO:0008173": "pachyonychia congenita 1", "MONDO:0008174": "pachyonychia congenita 2", "MONDO:0008176": "Paget disease of bone 3", "MONDO:0008178": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1", "MONDO:0008181": "palmaris longus muscle, absence of", "MONDO:0008184": "pancreas, dorsal, agenesis of", "MONDO:0008186": "pancytopenia and occlusive vascular disease", "MONDO:0008187": "panic disorder 1", "MONDO:0008188": "papillomatosis, confluent and reticulated", "MONDO:0008189": "papillomatosis, florid, of nipple", "MONDO:0008190": "obsolete human papillomavirus type 18 integration site 1", "MONDO:0008191": "obsolete human papillomavirus type 18 integration site 2", "MONDO:0008192": "paragangliomas 1", "MONDO:0008193": "paralysis agitans, juvenile, of Hunt", "MONDO:0008194": "Paramolar tubercle of bolk", "MONDO:0008197": "parietal foramina 1", "MONDO:0008200": "autosomal dominant Parkinson disease 1", "MONDO:0008202": "Parotidomegaly, hereditary bilateral", "MONDO:0008203": "Passovoy factor defect", "MONDO:0008204": "obsolete patella aplasia, coxa vara, and tarsal synostosis", "MONDO:0008208": "patella, familial recurrent dislocation of", "MONDO:0008210": "patterned macular dystrophy 1", "MONDO:0008212": "Pechet factor deficiency", "MONDO:0008213": "pectus excavatum (disease)", "MONDO:0008214": "Pelger-Huet anomaly", "MONDO:0008216": "pelvic lipomatosis with crossed renal ectopia", "MONDO:0008220": "pepsinogen 3, group 1", "MONDO:0008226": "aggressive periodontitis", "MONDO:0008229": "peroneal nerve, accessory deep", "MONDO:0008230": "peroxidase, salivary", "MONDO:0008232": "phagocytosis, plasma-related defect 1N", "MONDO:0008233": "phaeochromocytoma", "MONDO:0008235": "pheochromocytoma-islet cell tumor syndrome", "MONDO:0008236": "phlebectasia of lips", "MONDO:0008238": "phosphatase, acid, of tissues", "MONDO:0008239": "phosphoglucomutase 4", "MONDO:0008240": "6-phosphogluconolactonase deficiency", "MONDO:0008241": "phosphoglycoprotein 1", "MONDO:0008242": "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction", "MONDO:0008243": "Pick disease", "MONDO:0008248": "pigmented purpuric eruption", "MONDO:0008249": "pilonidal sinus (disease)", "MONDO:0008252": "platelet adenylate cyclase activity", "MONDO:0008253": "platelet aggregation, spontaneous", "MONDO:0008254": "platelet disorder, undefined", "MONDO:0008255": "platelet factor 3 deficiency", "MONDO:0008256": "platelet membrane fluidity", "MONDO:0008257": "platelet responsiveness to adrenaline, depressed", "MONDO:0008258": "platelet signal processing defect", "MONDO:0008263": "polycystic kidney disease 1", "MONDO:0008265": "isolated polycystic liver disease", "MONDO:0008266": "polydactyly, postaxial, type A1", "MONDO:0008278": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome", "MONDO:0008281": "polyposis, intestinal, scattered and discrete", "MONDO:0008282": "polyposis, intestinal, with multiple exostoses", "MONDO:0008285": "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal", "MONDO:0008288": "popliteal cyst", "MONDO:0008290": "POROK1", "MONDO:0008293": "porokeratosis 3, disseminated superficial actinic type", "MONDO:0008299": "posterior column ataxia", "MONDO:0008302": "centra precocious puberty 1", "MONDO:0008304": "premature chromatid separation trait", "MONDO:0008307": "presenile dementia, Kraepelin type", "MONDO:0008308": "priapism, familial idiopathic", "MONDO:0008309": "primary release disorder of platelets", "MONDO:0008313": "pelvic organ prolapse, susceptibility to", "MONDO:0008314": "pronation-supination of the forearm, impairment of", "MONDO:0008316": "thrombophilia due to protein C deficiency, autosomal dominant", "MONDO:0008317": "proteolytic capacity of plasma", "MONDO:0008319": "protoporphyria, erythropoietic", "MONDO:0008320": "Protrusio acetabuli (disease)", "MONDO:0008321": "pruritus, hereditary localized", "MONDO:0008324": "pseudoarthrogryposis", "MONDO:0008325": "Pseudoatrophoderma colli", "MONDO:0008326": "pseudocholinesterase, increase in plasma level of", "MONDO:0008328": "glaucoma 1, open angle, P", "MONDO:0008330": "pseudomonilethrix", "MONDO:0008333": "pseudoxanthoma elasticum, forme fruste", "MONDO:0008334": "psoriasis 1, susceptibility to", "MONDO:0008336": "pterygium colli, isolated", "MONDO:0008342": "pubic bone dysplasia", "MONDO:0008344": "pulmonary edema of mountaineers, susceptibility to", "MONDO:0008349": "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities", "MONDO:0008350": "pulmonic stenosis and deafness", "MONDO:0008351": "pupil, egg-shaped", "MONDO:0008352": "pupillary membrane, persistence of", "MONDO:0008354": "purpura simplex", "MONDO:0008355": "IHPS1", "MONDO:0008356": "radial heads, posterior dislocation of", "MONDO:0008361": "radius, aplasia of, with cleft lip/palate", "MONDO:0008362": "ragweed sensitivity", "MONDO:0008363": "raindrop hypopigmentation", "MONDO:0008364": "Raynaud disease", "MONDO:0008366": "red cell permeability defect", "MONDO:0008367": "red cell phospholipid defect with hemolysis", "MONDO:0008372": "retinal aplasia", "MONDO:0008374": "retinal cone dystrophy type 1", "MONDO:0008375": "retinal detachment", "MONDO:0008376": "retinal venous beading", "MONDO:0008377": "retinitis pigmentosa 1", "MONDO:0008378": "retinitis pigmentosa 9", "MONDO:0008379": "retinitis pigmentosa 10", "MONDO:0008381": "dominant pericentral pigmentary retinopathy", "MONDO:0008382": "retinoschisis, autosomal dominant", "MONDO:0008384": "rheumatoid nodulosis", "MONDO:0008385": "rhiny", "MONDO:0008386": "Axenfeld-Rieger syndrome type 1", "MONDO:0008398": "salivary substance, Clostridium botulinum type", "MONDO:0008399": "sarcoidosis, susceptibility to, 1", "MONDO:0008400": "salivary duct calculi", "MONDO:0008405": "scapula, contour of vertebral border of", "MONDO:0008414": "SCZD1", "MONDO:0008415": "obsolete Scholte syndrome", "MONDO:0008417": "sclerocornea, autosomal dominant", "MONDO:0008418": "scleroderma, familial progressive", "MONDO:0008419": "scoliosis, isolated, susceptibility to, 1", "MONDO:0008420": "seborrheic keratosis", "MONDO:0008422": "autosomal dominant sideroblastic anemia", "MONDO:0008423": "sinus node disease and myopia", "MONDO:0008424": "sella turcica, bridged", "MONDO:0008427": "sister chromatid exchange, frequency of", "MONDO:0008430": "skeletal dysplasia with delayed epiphyseal and carpal bone ossification", "MONDO:0008432": "ketone compounds, ability to smell", "MONDO:0008435": "Somatomedin, embryonic", "MONDO:0008441": "spastic paraplegia with associated extrapyramidal signs", "MONDO:0008444": "spastic paraplegia, optic atrophy, and dementia", "MONDO:0008446": "sperm protamine P4", "MONDO:0008447": "hereditary spherocytosis type 1", "MONDO:0008450": "spinal arachnoiditis", "MONDO:0008452": "spinal muscular atrophy, facioscapulohumeral type", "MONDO:0008454": "spinal intradural arachnoid cysts", "MONDO:0008455": "spinal muscular atrophy, segmental", "MONDO:0008456": "spinocerebellar ataxia with rigidity and peripheral neuropathy", "MONDO:0008459": "spinocerebellar atrophy with pupillary paralysis", "MONDO:0008461": "splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells", "MONDO:0008462": "split lower lip", "MONDO:0008463": "split-hand and split-foot with hypodontia", "MONDO:0008464": "split hand-foot malformation 1", "MONDO:0008468": "spondyloarthropathy, susceptibility to, 2", "MONDO:0008474": "spondyloepiphyseal dysplasia tarda, autosomal dominant", "MONDO:0008475": "spondylolisthesis (disease)", "MONDO:0008481": "spondylosis, cervical", "MONDO:0008483": "stuttering, familial persistent, 1", "MONDO:0008489": "sternum, premature obliteration of sutures of", "MONDO:0008496": "storm syndrome", "MONDO:0008498": "strabismus, susceptibility to", "MONDO:0008500": "striae distensae, familial", "MONDO:0008502": "sulfhemoglobinemia, congenital", "MONDO:0008505": "surface antigen, glycoprotein 75", "MONDO:0008506": "symphalangism of toes", "MONDO:0008507": "surface polypeptides, anonymous", "MONDO:0008508": "symphalangism, C. S. Lewis type", "MONDO:0008518": "calcaneonavicular coalition", "MONDO:0008519": "multiple synostoses syndrome 1", "MONDO:0008522": "synovial chondromatosis, familial, with dwarfism", "MONDO:0008524": "syringomas, multiple", "MONDO:0008525": "syringomyelia, isolated", "MONDO:0008526": "talonavicular coalition", "MONDO:0008527": "tarsal coalition", "MONDO:0008528": "tear protein, anodal", "MONDO:0008529": "T-cell Subgroups, non-HLA-linked", "MONDO:0008530": "teeth, odd shapes of", "MONDO:0008531": "obsolete T-complex locus TCP10B", "MONDO:0008532": "teeth present at birth (disease)", "MONDO:0008533": "teeth, supernumerary", "MONDO:0008535": "telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber", "MONDO:0008536": "temperature-sensitive lethal mutation", "MONDO:0008541": "spermatic cord torsion", "MONDO:0008543": "tetralogy of fallot and glaucoma", "MONDO:0008545": "thalassemia, beta+, silent allele", "MONDO:0008548": "theophylline Biotransformation", "MONDO:0008549": "thoracic dysostosis, isolated", "MONDO:0008552": "platelet-type bleeding disorder 16", "MONDO:0008553": "platelet-type bleeding disorder 17", "MONDO:0008554": "thrombocythemia 1", "MONDO:0008555": "thrombocytopenia 2", "MONDO:0008556": "thrombocytopenia, cyclic", "MONDO:0008559": "thrombophilia due to thrombin defect", "MONDO:0008560": "thrombophilia due to activated protein C resistance", "MONDO:0008561": "thumb deformity (disease)", "MONDO:0008564": "DiGeorge syndrome", "MONDO:0008566": "thyroid cancer, nonmedullary, 2", "MONDO:0008567": "thyroid cancer, nonmedullary, 1", "MONDO:0008568": "thyroid hormone plasma membrane transport defect", "MONDO:0008569": "thyroid hormone resistance, generalized, autosomal dominant", "MONDO:0008570": "thyrotoxic periodic paralysis, susceptibility to, 1", "MONDO:0008571": "Blount disease, infantile", "MONDO:0008573": "tibial torsion, bilateral medial", "MONDO:0008574": "obsolete Tl antigen", "MONDO:0008576": "toe, fifth, number of phalanges 1N", "MONDO:0008577": "toe, misshapen", "MONDO:0008578": "toe, rotated fifth", "MONDO:0008579": "toes, relative length of first and second", "MONDO:0008580": "toes, space between first and second", "MONDO:0008581": "malposition of teeth with or without hypodontia/oligodontia", "MONDO:0008583": "inherited torticollis (disease)", "MONDO:0008584": "torus palatinus and torus mandibularis", "MONDO:0008589": "tremor of intention, ataxia, and lipofuscinosis", "MONDO:0008590": "tremor, hereditary essential, 1", "MONDO:0008593": "trichomegaly", "MONDO:0008595": "trichoepitheliomas, multiple desmoplastic", "MONDO:0008596": "trichorhinophalangeal syndrome type I", "MONDO:0008597": "trichorhinophalangeal syndrome, type III", "MONDO:0008600": "trigger thumb", "MONDO:0008601": "triglyceride storage disease, type 1", "MONDO:0008602": "triglyceride storage disease, type 2", "MONDO:0008603": "trigonocephaly 1", "MONDO:0008604": "triphalangeal thumb with double phalanges", "MONDO:0008605": "triphalangeal thumb, Nonopposable", "MONDO:0008609": "Tristichiasis", "MONDO:0008612": "tuberous sclerosis 1", "MONDO:0008613": "Tuftsin deficiency", "MONDO:0008614": "ST3", "MONDO:0008615": "tune deafness", "MONDO:0008616": "twinning due to superfetation", "MONDO:0008617": "inflammatory bowel disease 11", "MONDO:0008623": "Undritz anomaly", "MONDO:0008625": "urate-binding globulin, decrease 1N", "MONDO:0008626": "ureter, bifid or double", "MONDO:0008627": "ureter cancer", "MONDO:0008628": "ureterocele (disease)", "MONDO:0008629": "urolithiasis, uric acid, autosomal dominant", "MONDO:0008630": "urinary bladder, atony of", "MONDO:0008632": "urticaria, aquagenic", "MONDO:0008634": "urticaria, familial localized heat", "MONDO:0008635": "uterine anomalies", "MONDO:0008638": "varicose disease", "MONDO:0008639": "vascular helix of umbilical cord", "MONDO:0008640": "vasculitis, lymphocytic, nodular", "MONDO:0008643": "veins, pattern of, on anterior thorax", "MONDO:0008644": "velocardiofacial syndrome", "MONDO:0008647": "hypertrophic cardiomyopathy 1", "MONDO:0008648": "ventricular tachycardia, familial", "MONDO:0008649": "venular insufficiency, systemic", "MONDO:0008651": "vertebral hypoplasia with lumbar kyphosis", "MONDO:0008653": "VUR1", "MONDO:0008654": "NYS4", "MONDO:0008655": "vestibulocochlear dysfunction, progressive", "MONDO:0008658": "virus Rd114 RNA Complementarity", "MONDO:0008666": "volvulus of midgut", "MONDO:0008669": "vulvovaginitis, allergic seminal", "MONDO:0008671": "Waardenburg syndrome type 2A", "MONDO:0008676": "white sponge nevus 1", "MONDO:0008677": "widow's peak (disease)", "MONDO:0008679": "Wilms tumor type 1", "MONDO:0008680": "Wilms tumor 2", "MONDO:0008683": "Wilms tumor 3", "MONDO:0008687": "Woronets trait", "MONDO:0008689": "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema", "MONDO:0008690": "xeroderma pigmentosum, autosomal dominant, mild", "MONDO:0008691": "zinc, elevated plasma", "MONDO:0008697": "acetophenetidin sensitivity", "MONDO:0008710": "Carpenter syndrome 1", "MONDO:0008719": "acrorenal syndrome, autosomal recessive", "MONDO:0008732": "adrenal hypoplasia, cytomegalic type", "MONDO:0008734": "adrenocortical carcinoma, hereditary", "MONDO:0008735": "adrenocortical unresponsiveness to ACTH with postreceptor defect", "MONDO:0008736": "peroxisome biogenesis disorder 2B", "MONDO:0008738": "aganglionosis, total intestinal", "MONDO:0008739": "agenesis of cerebral white matter", "MONDO:0008748": "Hermansky-Pudlak syndrome 1", "MONDO:0008751": "corticosterone methyloxidase type 1 deficiency", "MONDO:0008761": "alpha-2-deficient collagen disease", "MONDO:0008764": "Leber congenital amaurosis 1", "MONDO:0008765": "Leber congenital amaurosis 2", "MONDO:0008770": "amelogenesis imperfecta type 1C", "MONDO:0008772": "amelogenesis imperfecta type 2A1", "MONDO:0008773": "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis", "MONDO:0008775": "Amobarbital, deficient N-hydroxylation of", "MONDO:0008776": "amyloidosis of gingiva and conjunctiva, with mental retardation", "MONDO:0008778": "amyloidosis, cutaneous bullous", "MONDO:0008780": "amyotrophic lateral sclerosis type 2", "MONDO:0008781": "juvenile amyotrophic lateral sclerosis with dementia", "MONDO:0008782": "amyotrophic lateral sclerosis with polyglucosan bodies", "MONDO:0008785": "sideroblastic anemia 2", "MONDO:0008786": "pyridoxine-responsive sideroblastic anemia", "MONDO:0008789": "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane", "MONDO:0008790": "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism", "MONDO:0008793": "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert", "MONDO:0008794": "anhidrosis, familial generalized, with abnormal or absent sweat glands", "MONDO:0008801": "anosmia for isobutyric acid", "MONDO:0008802": "antithrombin, familial hemorrhagic diathesis due to", "MONDO:0008807": "apnea, central sleep", "MONDO:0008817": "arterial calcification, generalized, of infancy, 1", "MONDO:0008819": "arteriosclerosis, severe juvenile", "MONDO:0008821": "arthrogryposis, distal, with mental retardation and characteristic facies", "MONDO:0008822": "arthrogryposis, renal dysfunction, and cholestasis 1", "MONDO:0008831": "asphyxiating thoracic dystrophy 1", "MONDO:0008833": "renal-hepatic-pancreatic dysplasia 1", "MONDO:0008834": "asthma, nasal polyps, and aspirin intolerance", "MONDO:0008835": "asthma, short stature, and elevated IgA", "MONDO:0008836": "ataxia with myoclonic epilepsy and presenile dementia", "MONDO:0008837": "ataxia, deafness, and cardiomyopathy", "MONDO:0008839": "ataxia-microcephaly-cataract syndrome", "MONDO:0008841": "ataxia-telangiectasia with generalized skin pigmentation and early death", "MONDO:0008844": "Athrombia, essential", "MONDO:0008845": "atonic-astatic syndrome of Foerster", "MONDO:0008848": "atrioventricular dissociation (disease)", "MONDO:0008854": "Bardet-Biedl syndrome 1", "MONDO:0008856": "immunodeficiency 27A", "MONDO:0008859": "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification", "MONDO:0008860": "beta-aminoisobutyric acid, urinary excretion of", "MONDO:0008861": "3-methylcrotonyl-CoA carboxylase 1 deficiency", "MONDO:0008862": "3-methylcrotonyl-CoA carboxylase 2 deficiency", "MONDO:0008866": "bifid nose, autosomal recessive", "MONDO:0008869": "Seckel syndrome 1", "MONDO:0008871": "microcephalic osteodysplastic primordial dwarfism type I", "MONDO:0008883": "brachydactyly, type A2, with microcephaly", "MONDO:0008887": "bronchiectasis with or without elevated sweat chloride 1", "MONDO:0008902": "camptodactyly-ichthyosis syndrome", "MONDO:0008903": "lung cancer", "MONDO:0008904": "camptomelic syndrome, long-limb type", "MONDO:0008906": "obsolete carbimazole sensitivity", "MONDO:0008909": "congenital disorder of glycosylation, type i/IIx", "MONDO:0008910": "carboxypeptidase N deficiency", "MONDO:0008911": "cardiac lipidosis, familial", "MONDO:0008912": "cardiac septal defects with coarctation of the aorta", "MONDO:0008913": "cardiac valvular defect, developmental", "MONDO:0008914": "cardioauditory syndrome of Sanchez Cascos", "MONDO:0008916": "cardiomyopathy associated with myopathy and sudden death", "MONDO:0008920": "carnitine deficiency, myopathic", "MONDO:0008930": "celiac disease, susceptibility to, 1", "MONDO:0008932": "PCD", "MONDO:0008933": "cephalin lipidosis", "MONDO:0008936": "cerebellar ataxia and neurosensory deafness", "MONDO:0008937": "cerebellar ataxia, benign, with thermoanalgesia", "MONDO:0008944": "Joubert syndrome 1", "MONDO:0008945": "myoclonic cerebellar dyssynergia", "MONDO:0008946": "cerebral angiopathy, dysphoric", "MONDO:0008949": "cerebral malformation, seizures, hypertrichosis, and overlapping fingers", "MONDO:0008950": "cerebral sclerosis similar to Pelizaeus-Merzbacher disease", "MONDO:0008951": "cerebrocortical degeneration of infancy", "MONDO:0008953": "peroxisome biogenesis disorder 1A (Zellweger)", "MONDO:0008954": "peroxisome biogenesis disorder 2A (Zellweger)", "MONDO:0008955": "cerebrooculofacioskeletal syndrome 1", "MONDO:0008957": "cervical vertebrae, agenesis of", "MONDO:0008958": "Klippel-Feil syndrome 2, autosomal recessive", "MONDO:0008968": "cholestasis with gallstone, ataxia, and visual disturbance", "MONDO:0008969": "cholesterol pneumonia", "MONDO:0008971": "chondrodysplasia calcificans Metaphysealis", "MONDO:0008976": "chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome", "MONDO:0008979": "chorea, benign familial", "MONDO:0008983": "chromosomal instability with tissue-specific radiosensitivity", "MONDO:0008984": "ciliary discoordination due to random ciliary orientation", "MONDO:0008985": "ciliary dyskinesia with transposition of ciliary microtubules", "MONDO:0008986": "circumvallate placenta syndrome", "MONDO:0008989": "citrulline transport defect", "MONDO:0008994": "cleidocranial dysplasia, recessive form", "MONDO:0009002": "coloboma, ocular, autosomal recessive", "MONDO:0009003": "achromatopsia 2", "MONDO:0009005": "complement component C1r/C1s deficiency", "MONDO:0009006": "complement component 2 deficiency", "MONDO:0009013": "convulsive disorder, familial, with prenatal or early onset", "MONDO:0009014": "cornea plana 2", "MONDO:0009016": "band keratopathy", "MONDO:0009017": "corneal degeneration, band-shaped spheroid", "MONDO:0009027": "cramps, familial adolescent", "MONDO:0009029": "cranial nerves, congenital paresis of", "MONDO:0009030": "cranial nerves, recurrent paresis of", "MONDO:0009035": "craniometaphyseal dysplasia, autosomal recessive", "MONDO:0009037": "craniosynostosis with anomalies of the cranial base and digits", "MONDO:0009040": "craniosynostosis-mental retardation syndrome of 51N and Gettig", "MONDO:0009041": "craniosynostosis-mental retardation-clefting syndrome", "MONDO:0009047": "cryptorchidism (disease)", "MONDO:0009048": "curved nail of fourth toe", "MONDO:0009052": "cutis laxa, autosomal recessive, type 1A", "MONDO:0009057": "cyanosis and hepatic disease", "MONDO:0009059": "cysteine Peptiduria", "MONDO:0009060": "cystic disease of lung", "MONDO:0009073": "Ritscher-Schinzel syndrome 1", "MONDO:0009076": "autosomal recessive nonsyndromic deafness 1A", "MONDO:0009077": "deafness, congenital, and familial myoclonic epilepsy", "MONDO:0009081": "deafness, congenital, with total albinism", "MONDO:0009087": "deafness, neural, congenital moderate", "MONDO:0009088": "deafness, neural, with atypical atopic dermatitis", "MONDO:0009090": "deafness, sensorineural, autosomal-mitochondrial type", "MONDO:0009098": "dextrocardia with unusual facies and microphthalmia", "MONDO:0009101": "Wolfram syndrome 1", "MONDO:0009102": "diaminopentanuria", "MONDO:0009103": "diaphragmatic hernia 2", "MONDO:0009117": "obsolete disorganization, mouse, homolog of", "MONDO:0009118": "disseminated sclerosis with narcolepsy", "MONDO:0009119": "diverticulosis, small-intestinal", "MONDO:0009122": "Dohle bodies and leukemia", "MONDO:0009125": "dopamine beta-hydroxylase, plasma, thermolability of", "MONDO:0009127": "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone", "MONDO:0009129": "dwarfism, proportionate, with hip dislocation", "MONDO:0009132": "dysautonomia-like disorder", "MONDO:0009135": "anemia, congenital dyserythropoietic, type 1a", "MONDO:0009136": "dyskeratosis congenita, autosomal recessive 1", "MONDO:0009137": "dysmyelination with jaundice", "MONDO:0009142": "dystonia with Ringbinden", "MONDO:0009143": "Meier-Gorlin syndrome 1", "MONDO:0009147": "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive", "MONDO:0009152": "ectopia lentis 2, isolated, autosomal recessive", "MONDO:0009153": "ectopia lentis et pupillae", "MONDO:0009154": "hypothyroidism, congenital, nongoitrous, 5", "MONDO:0009157": "split hand-foot malformation 6", "MONDO:0009163": "encephalomalacia, multilocular", "MONDO:0009164": "encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts", "MONDO:0009165": "Aicardi-Goutieres syndrome 1", "MONDO:0009170": "endocardial fibroelastosis and coarctation of abdominal aorta", "MONDO:0009171": "endothelial dystrophy, congenital hereditary, with nail hypoplasia", "MONDO:0009172": "enterocolitis (disease)", "MONDO:0009178": "epidermolysis bullosa dystrophica Neurotrophica", "MONDO:0009184": "epidermolysis bullosa with diaphragmatic hernia", "MONDO:0009186": "epilepsy, photogenic, with spastic diplegia and mental retardation", "MONDO:0009190": "epiphyseal dysplasia of femoral head, myopia, and deafness", "MONDO:0009193": "epithelial squamous dysplasia, keratinizing desquamative, of urinary tract", "MONDO:0009195": "erythema of acral regions", "MONDO:0009199": "ethanolaminosis", "MONDO:0009201": "facial abnormalities, kyphoscoliosis, and mental retardation", "MONDO:0009206": "factor V and factor VIII, combined deficiency of, type 1", "MONDO:0009207": "factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor", "MONDO:0009208": "faciothoracogenital syndrome", "MONDO:0009213": "Fanconi anemia complementation group C", "MONDO:0009214": "Fanconi anemia complementation group D2", "MONDO:0009215": "Fanconi anemia complementation group A", "MONDO:0009217": "Fanconi-like syndrome", "MONDO:0009219": "fascial dystrophy, congenital", "MONDO:0009220": "visceral steatosis, congenital", "MONDO:0009225": "fever, familial lifelong persistent", "MONDO:0009226": "fibrochondrogenesis 1", "MONDO:0009227": "myofibromatosis, infantile, 1", "MONDO:0009230": "fibrosclerosis, multifocal", "MONDO:0009237": "focal epithelial hyperplasia", "MONDO:0009244": "Freesia Flowers, inability to smell", "MONDO:0009246": "Friedreich ataxia and congenital glaucoma", "MONDO:0009248": "fructose and galactose intolerance", "MONDO:0009250": "fructose utilization", "MONDO:0009269": "geleophysic dysplasia 1", "MONDO:0009273": "hydatidiform mole, recurrent, 1", "MONDO:0009280": "monosodium glutamate sensitivity", "MONDO:0009286": "gluteal muscles, absence of", "MONDO:0009296": "glycoprotein storage disease", "MONDO:0009298": "GOMBO syndrome", "MONDO:0009301": "46,XY sex reversal 7", "MONDO:0009305": "granulocytopenia with immunoglobulin abnormality", "MONDO:0009308": "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative", "MONDO:0009309": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1", "MONDO:0009310": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2", "MONDO:0009311": "grouped pigmentation of the retina", "MONDO:0009322": "halo nevi", "MONDO:0009323": "Halothane hepatitis", "MONDO:0009327": "heart, malformation of", "MONDO:0009328": "hemangiomatosis, cutaneous, with associated features", "MONDO:0009330": "hemangiopericytoma, malignant", "MONDO:0009334": "hemolytic anemia with thermal sensitivity of red cells", "MONDO:0009335": "hemolytic uremic syndrome, atypical, susceptibility to, 1", "MONDO:0009336": "hemosiderosis, pulmonary, with deficiency of gamma-a globulin", "MONDO:0009337": "Hennekam lymphangiectasia-lymphedema syndrome 1", "MONDO:0009343": "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect", "MONDO:0009347": "familial lipochrome histiocytosis", "MONDO:0009349": "holoprosencephaly 1", "MONDO:0009355": "Hooft disease", "MONDO:0009356": "autosomal recessive humeroradial synostosis", "MONDO:0009357": "humeroradial synostosis with craniofacial anomalies", "MONDO:0009358": "Hutterite cerebroosteonephrodysplasia syndrome", "MONDO:0009360": "hydrocephalus, nonsyndromic, autosomal recessive 1", "MONDO:0009361": "autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius", "MONDO:0009364": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "MONDO:0009365": "hydrolethalus syndrome 1", "MONDO:0009368": "urofacial syndrome type 1", "MONDO:0009374": "hydroxyprolinemia (disease)", "MONDO:0009375": "hymen, imperforate", "MONDO:0009381": "hyperbilirubinemia, conjugated, type 3", "MONDO:0009382": "PSHB", "MONDO:0009384": "Leydig cell hypoplasia, type 1", "MONDO:0009385": "hyperleucine-Isoleucinemia", "MONDO:0009386": "hyperlexia", "MONDO:0009389": "hyperlysinemia due to defect in lysine transport into mitochondria", "MONDO:0009390": "hyperlysinuria with hyperammonemia", "MONDO:0009391": "hypermetabolism due to defect in mitochondria", "MONDO:0009392": "hyperopia, high", "MONDO:0009396": "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria", "MONDO:0009398": "hyperphosphatasia with intellectual disability syndrome 1", "MONDO:0009399": "hyperphosphatemia, polyuria, and seizures", "MONDO:0009403": "hypertelorism and tetralogy of fallot", "MONDO:0009407": "hypertrophic neuropathy and cataract", "MONDO:0009408": "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase", "MONDO:0009409": "hypervitaminosis a, susceptibility to", "MONDO:0009412": "scurvy", "MONDO:0009413": "immunodeficiency, common variable, 2", "MONDO:0009415": "hypoglycemia, leucine-induced", "MONDO:0009418": "hypogonadism with low-grade mental deficiency and microcephaly", "MONDO:0009421": "hypogonadism, male", "MONDO:0009422": "hypohidrosis with abnormal palmar dermal Ridges", "MONDO:0009423": "hypokalemic alkalosis, familial, with specific renal tubulopathy", "MONDO:0009429": "hypophosphatemia, renal, with intracerebral calcifications", "MONDO:0009430": "hypophosphatemic rickets, autosomal recessive, 1", "MONDO:0009432": "hypopituitarism, congenital, with central diabetes insipidus", "MONDO:0009433": "hypoplastic left heart syndrome 1", "MONDO:0009434": "hypoproteinemia, hypercatabolic", "MONDO:0009438": "hypouricemia, hypercalcinuria, and decreased bone density", "MONDO:0009439": "autosomal recessive congenital ichthyosis 2", "MONDO:0009440": "ichthyosiform erythroderma, corneal involvement, and deafness", "MONDO:0009441": "autosomal recessive congenital ichthyosis 1", "MONDO:0009442": "ichthyosis congenita with biliary atresia", "MONDO:0009447": "ichthyosis, split hairs, and amino aciduria", "MONDO:0009449": "ciliary dyskinesia with defective radial spokes", "MONDO:0009450": "ciliary dyskinesia with excessively long cilia", "MONDO:0009453": "immune deficiency disease", "MONDO:0009454": "immunodeficiency-centromeric instability-facial anomalies syndrome 1", "MONDO:0009455": "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes", "MONDO:0009456": "Immunoerythromyeloid hypoplasia", "MONDO:0009457": "immunoglobulin d level in plasma, low", "MONDO:0009460": "Indolylacroyl Glycinuria with mental retardation", "MONDO:0009462": "inosine phosphorylase deficiency, immune defect due to", "MONDO:0009463": "internal carotid arteries, hypoplasia of", "MONDO:0009464": "immunodeficiency with defective T-cell response to interleukin 1", "MONDO:0009470": "Baraitser-Winter syndrome 1", "MONDO:0009471": "intrinsic factor and r binder, combined congenital deficiency of", "MONDO:0009472": "acetylation, slow", "MONDO:0009474": "isovaleric acid, inability to smell", "MONDO:0009481": "Jumping Frenchmen of Maine", "MONDO:0009482": "hypogonadotropic hypogonadism 3 with or without anosmia", "MONDO:0009487": "keratoconus and congenital hip dysplasia", "MONDO:0009488": "keratoconus posticus circumscriptus", "MONDO:0009496": "Kniest-like dysplasia with pursed lips and ectopia lentis", "MONDO:0009497": "Kifafa seizure disorder", "MONDO:0009500": "kuru, susceptibility to", "MONDO:0009505": "lactic aciduria due to D-lactic acid", "MONDO:0009508": "Lambotte syndrome", "MONDO:0009518": "leprosy, susceptibility to, 3", "MONDO:0009521": "leukemia, acute myelocytic, with polyposis coli and colon cancer", "MONDO:0009531": "lip prints", "MONDO:0009534": "chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation", "MONDO:0009535": "lymphedema, congenital recessive", "MONDO:0009536": "chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation", "MONDO:0009538": "lymphoid system deterioration, progressive", "MONDO:0009539": "lymphoblastic leukemia, acute, with lymphomatous features", "MONDO:0009540": "chronic mucocutaneous candidiasis due to lymphokine deficiency", "MONDO:0009541": "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis", "MONDO:0009542": "lysine malabsorption syndrome", "MONDO:0009544": "macrocephaly/megalencephaly syndrome, autosomal recessive", "MONDO:0009545": "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance", "MONDO:0009546": "macrosomia adiposa congenita", "MONDO:0009551": "magnesium, elevated red cell", "MONDO:0009553": "Plasmodium falciparum blood infection level", "MONDO:0009555": "malocclusion and short stature", "MONDO:0009558": "Treacher Collins syndrome 3", "MONDO:0009559": "mandibulofacial dysostosis with mental deficiency", "MONDO:0009571": "Meckel syndrome, type 1", "MONDO:0009572": "autosomal recessive familial Mediterranean fever", "MONDO:0009573": "megaepiphyseal dwarfism", "MONDO:0009574": "megalencephaly with dysmyelination", "MONDO:0009576": "megalocornea (disease)", "MONDO:0009580": "intellectual disability, autosomal recessive 1", "MONDO:0009587": "mesoaxial hexadactyly and cardiac malformation", "MONDO:0009590": "metachromatic leukodystrophy due to saposin b deficiency", "MONDO:0009596": "metaphyseal chondrodysplasia, Pena type", "MONDO:0009600": "metaphyseal dysplasia, anetoderma, and optic atrophy", "MONDO:0009602": "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia", "MONDO:0009604": "methemoglobin reductase deficiency", "MONDO:0009605": "methemoglobinemia type 4", "MONDO:0009606": "methemoglobinemia due to deficiency of methemoglobin reductase", "MONDO:0009608": "methionine malabsorption syndrome", "MONDO:0009625": "microcephaly with spastic quadriplegia", "MONDO:0009628": "microcolon (disease)", "MONDO:0009629": "Desbuquois dysplasia 1", "MONDO:0009630": "microphthalmia, isolated, with coloboma 4", "MONDO:0009631": "isolated microphthalmia 1", "MONDO:0009632": "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies", "MONDO:0009633": "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma", "MONDO:0009634": "microtia with meatal atresia and conductive deafness", "MONDO:0009638": "mitochondrial myopathy with a defect in mitochondrial-protein transport", "MONDO:0009645": "chronic mucocutaneous candidiasis due to monocyte chemotactic disorder", "MONDO:0009646": "monosomy 7 of bone marrow", "MONDO:0009647": "Morquio syndrome C", "MONDO:0009649": "MYMY1", "MONDO:0009654": "mucopolysaccharidoses, unclassified types", "MONDO:0009663": "mucus inspissation of respiratory tract", "MONDO:0009667": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "MONDO:0009674": "muscular dystrophy, adult-onset, with leukoencephalopathy", "MONDO:0009681": "Ullrich congenital muscular dystrophy 1", "MONDO:0009682": "muscular dystrophy, congenital, with rapid progression", "MONDO:0009684": "muscular hypertonia, lethal", "MONDO:0009686": "musk, inability to smell", "MONDO:0009687": "myasthenia, congenital, refractory to acetylcholinesterase inhibitors", "MONDO:0009689": "congenital myasthenic syndrome 6", "MONDO:0009690": "congenital myasthenic syndrome 10", "MONDO:0009695": "myeloproliferative disease, autosomal recessive", "MONDO:0009701": "myopathy, granulovacuolar lobular, with electrical myotonia", "MONDO:0009702": "myopathy due to malate-aspartate shuttle defect", "MONDO:0009703": "myopathy with abnormal lipid metabolism", "MONDO:0009707": "myopathy with giant abnormal mitochondria", "MONDO:0009709": "myopathy, centronuclear, 2", "MONDO:0009713": "MYP18", "MONDO:0009715": "myotonia congenita, autosomal recessive", "MONDO:0009718": "myxedema", "MONDO:0009725": "nemaline myopathy 2", "MONDO:0009733": "nephrotic syndrome, type 4", "MONDO:0009734": "hyperinsulinemic hypoglycemia, familial, 1", "MONDO:0009741": "neuroblastoma, susceptibility to, 1", "MONDO:0009743": "neurologic disease, infantile multisystem, with osseous fragility", "MONDO:0009750": "neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive", "MONDO:0009751": "neuropathy, hereditary sensory, atypical", "MONDO:0009752": "neuropathy, painful", "MONDO:0009753": "obsolete neurovisceral storage disease with Curvilinear bodies", "MONDO:0009754": "neutropenia, lethal congenital, with eosinophilia", "MONDO:0009757": "Niemann-Pick disease, type C1", "MONDO:0009758": "congenital stationary night blindness 1B", "MONDO:0009759": "mosaic variegated aneuploidy syndrome 1", "MONDO:0009762": "nystagmus, congenital, autosomal recessive", "MONDO:0009763": "obesity-hypoventilation syndrome", "MONDO:0009765": "ocular myopathy with curare sensitivity", "MONDO:0009768": "oculodentodigital dysplasia, autosomal recessive", "MONDO:0009775": "Oguchi disease-1", "MONDO:0009776": "spermatogenic failure 1", "MONDO:0009778": "olivopontocerebellar atrophy II, autosomal recessive", "MONDO:0009782": "ophthalmoplegia totalis with ptosis and miosis", "MONDO:0009783": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1", "MONDO:0009784": "ophthalmoplegic neuromuscular disorder with abnormal mitochondria", "MONDO:0009788": "optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive", "MONDO:0009789": "nonarteritic anterior ischemic optic neuropathy, susceptibility to", "MONDO:0009790": "Opticocochleodentate degeneration", "MONDO:0009791": "oral sensibility, disturbance of", "MONDO:0009800": "Blount disease, adolescent", "MONDO:0009802": "osteodysplasty, precocious, of Danks, Mayne, and Kozlowski", "MONDO:0009805": "osteogenesis imperfecta type 9", "MONDO:0009806": "Bruck syndrome 1", "MONDO:0009808": "osteoid osteoma (disease)", "MONDO:0009809": "multicentric osteolysis, nodulosis, and arthropathy", "MONDO:0009811": "osteoma of middle ear", "MONDO:0009815": "autosomal recessive osteopetrosis 1", "MONDO:0009816": "autosomal recessive osteopetrosis 2", "MONDO:0009817": "autosomal recessive osteopetrosis 5", "MONDO:0009826": "PA polymorphism of alpha-2-globulin", "MONDO:0009827": "pachyonychia congenita, autosomal recessive", "MONDO:0009828": "palant cleft palate syndrome", "MONDO:0009829": "pallidal degeneration, progressive, with retinitis pigmentosa", "MONDO:0009836": "pancreatitis, sclerosing cholangitis, and sicca complex", "MONDO:0009842": "Pelger-Huet-like anomaly and episodic fever with abdominal pain", "MONDO:0009847": "pericardial effusion, chronic", "MONDO:0009850": "periodontitis, chronic, adult", "MONDO:0009851": "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain", "MONDO:0009854": "peroneus tertius muscle, absence of", "MONDO:0009860": "phenformin 4-hydroxylation", "MONDO:0009875": "achromatopsia 3", "MONDO:0009878": "pituitary hormone deficiency, combined, 2", "MONDO:0009881": "pituitary dwarfism with large sella turcica", "MONDO:0009882": "plasma clot retraction factor, deficiency of", "MONDO:0009884": "platelet prostacyclin receptor defect", "MONDO:0009886": "pleoconial myopathy with salt craving", "MONDO:0009888": "polycystic kidney, cataract, and congenital blindness", "MONDO:0009890": "Gillessen-Kaesbach-Nishimura syndrome", "MONDO:0009893": "polydactyly, postaxial, type A5", "MONDO:0009894": "short-rib thoracic dysplasia 6 with or without polydactyly", "MONDO:0009896": "polymyoclonus, infantile", "MONDO:0009898": "polysaccharide, storage of unusual", "MONDO:0009899": "polyhydramnios, chronic idiopathic", "MONDO:0009906": "prenatal bowing", "MONDO:0009907": "Prepapillary vascular loops", "MONDO:0009909": "progesterone resistance", "MONDO:0009911": "prolactin deficiency, isolated", "MONDO:0009912": "prolactin deficiency with obesity and enlarged testes", "MONDO:0009913": "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness", "MONDO:0009918": "fundus dystrophy, pseudoinflammatory, recessive form", "MONDO:0009922": "Pseudouridinuria and mental defect", "MONDO:0009932": "pulmonary bullae causing pneumothorax", "MONDO:0009935": "pulmonary hypertension, primary, autosomal recessive", "MONDO:0009938": "pulmonic stenosis (disease)", "MONDO:0009939": "pulmonic stenosis and congenital nephrosis", "MONDO:0009941": "Pygmy", "MONDO:0009944": "pyloric atresia", "MONDO:0009951": "radiculoneuropathy, fatal neonatal", "MONDO:0009956": "red skin pigment anomaly of new guinea", "MONDO:0009957": "Reese retinal dysplasia", "MONDO:0009959": "peroxisome biogenesis disorder type 3B", "MONDO:0009960": "inflammatory bowel disease 1", "MONDO:0009961": "renal and mullerian duct hypoplasia", "MONDO:0009962": "Senior-Loken syndrome 1", "MONDO:0009967": "renal tubular acidosis 3", "MONDO:0009972": "respiratory underresponsiveness to hypoxia and hypercapnia", "MONDO:0009974": "familial hemophagocytic lymphohistiocytosis type 1", "MONDO:0009976": "retinal degeneration and epilepsy", "MONDO:0009980": "retinal telangiectasia and hypogammaglobulinemia", "MONDO:0009982": "retinitis pigmentosa inversa with deafness", "MONDO:0009984": "late-adult onset retinitis pigmentosa", "MONDO:0009987": "autosomal recessive pericentral pigmentary retinopathy", "MONDO:0009988": "retinoschisis of fovea", "MONDO:0009992": "myoglobinuria, acute recurrent, autosomal recessive", "MONDO:0009995": "rheumatic fever-related antigen", "MONDO:0010000": "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction", "MONDO:0010003": "Rowley-Rosenberg syndrome", "MONDO:0010016": "sclerosteosis 1", "MONDO:0010018": "second metatarsal-metacarpal syndrome", "MONDO:0010019": "secretory component deficiency", "MONDO:0010020": "congenital generalized lipodystrophy type 2", "MONDO:0010021": "seizures, benign familial neonatal, autosomal recessive", "MONDO:0010022": "senile plaque formation", "MONDO:0010025": "short stature-obesity syndrome", "MONDO:0010032": "Sjogren-Larsson-like ichthyosis without CNS or eye involvement", "MONDO:0010034": "anosmia for butyl mercaptan", "MONDO:0010036": "congenital secretory sodium diarrhea 3", "MONDO:0010037": "sodium-potassium-ATPase activity of red cell", "MONDO:0010040": "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation", "MONDO:0010042": "spastic diplegia and mental retardation", "MONDO:0010048": "spastic paraplegia with myoclonic epilepsy", "MONDO:0010050": "spastic pseudosclerosis", "MONDO:0010052": "spermatogenic failure 4", "MONDO:0010053": "hereditary spherocytosis type 3", "MONDO:0010054": "spinal muscular atrophy with mental retardation", "MONDO:0010055": "spinal muscular atrophy with microcephaly and mental subnormality", "MONDO:0010057": "spinal muscular atrophy, Ryukyuan type", "MONDO:0010058": "spinal muscular atrophy, scapuloperoneal", "MONDO:0010065": "spinocerebellar degeneration with slow eye movements", "MONDO:0010067": "splenoportal vascular anomalies", "MONDO:0010072": "spondyloepiphyseal dysplasia tarda, autosomal recessive", "MONDO:0010081": "subaortic stenosis, membranous", "MONDO:0010084": "sucrosuria, hiatus hernia and mental retardation", "MONDO:0010086": "sudden infant death syndrome", "MONDO:0010096": "tardive dyskinesia (disease)", "MONDO:0010097": "Tatsumi factor deficiency", "MONDO:0010103": "teeth, fused", "MONDO:0010105": "teratoma, pineal", "MONDO:0010106": "testes, rudimentary", "MONDO:0010109": "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities", "MONDO:0010113": "thalidomide susceptibility", "MONDO:0010117": "three M syndrome 1", "MONDO:0010118": "Threoninemia", "MONDO:0010120": "THC3", "MONDO:0010124": "thumb, distal hyperextensibility of", "MONDO:0010126": "thymic aplasia with fetal death", "MONDO:0010127": "thymoma, familial", "MONDO:0010131": "thyroid hormone resistance, generalized, autosomal recessive", "MONDO:0010133": "thyroid dyshormonogenesis 2A", "MONDO:0010135": "thyroid dyshormonogenesis 3", "MONDO:0010136": "thyroid dyshormonogenesis 4", "MONDO:0010137": "thyroid dyshormonogenesis 5", "MONDO:0010141": "tiglic acidemia", "MONDO:0010145": "tibia, absence of, with congenital deafness", "MONDO:0010147": "tongue, pigmented fungiform papillae of", "MONDO:0010151": "tricarboxylic acid cycle, defect of", "MONDO:0010157": "Tryptophanuria with dwarfism", "MONDO:0010158": "T-substance anomaly", "MONDO:0010159": "constitutional mismatch repair deficiency syndrome", "MONDO:0010163": "Tyrosinosis", "MONDO:0010166": "ulnar agenesis and endocardial fibroelastosis", "MONDO:0010169": "Usher syndrome type 2A", "MONDO:0010170": "Usher syndrome type 3A", "MONDO:0010171": "Usher syndrome type 1C", "MONDO:0010174": "Valinemia", "MONDO:0010175": "van Bogaert-Hozay syndrome", "MONDO:0010178": "congenital bilateral aplasia of vas deferens from CFTR mutation", "MONDO:0010182": "hypercarotenemia and vitamin A deficiency, autosomal recessive", "MONDO:0010186": "vitamin D-dependent rickets, type 2A", "MONDO:0010187": "vitamin K-dependent clotting factors, combined deficiency of, type 1", "MONDO:0010189": "vitiligo, progressive, with mental retardation and urethral duplication", "MONDO:0010190": "pontocerebellar hypoplasia type 2A", "MONDO:0010192": "Waardenburg syndrome type 4A", "MONDO:0010194": "Weill-Marchesani syndrome 1", "MONDO:0010197": "whistling face syndrome, recessive form", "MONDO:0010198": "Wernicke-Korsakoff syndrome", "MONDO:0010201": "Winchester syndrome", "MONDO:0010206": "hypotrichosis 8", "MONDO:0010218": "46,XX sex reversal 2", "MONDO:0010219": "xylosidase deficiency", "MONDO:0010223": "ichthyosis, X-linked, without steroid sulfatase deficiency", "MONDO:0010226": "46,XY sex reversal 2", "MONDO:0010227": "retinitis pigmentosa 3", "MONDO:0010228": "DFNX3", "MONDO:0010229": "alopecia, congenital", "MONDO:0010230": "MRX23", "MONDO:0010231": "MRX20", "MONDO:0010232": "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked", "MONDO:0010233": "heterotopia, periventricular, X-linked dominant", "MONDO:0010236": "MRX14", "MONDO:0010238": "deafness, X-linked 4", "MONDO:0010241": "congenital stationary night blindness 2A", "MONDO:0010242": "fetal akinesia syndrome, X-linked", "MONDO:0010244": "CGF1", "MONDO:0010245": "X-linked cone-rod dystrophy 2", "MONDO:0010251": "MRX50", "MONDO:0010252": "intellectual disability, X-linked, with panhypopituitarism", "MONDO:0010253": "migraine, familial typical, susceptibility to, 2", "MONDO:0010254": "hematopoietic stem cell kinetics, control of", "MONDO:0010255": "diabetes mellitus, insulin-dependent, X-linked, susceptibility to", "MONDO:0010256": "intellectual disability, X-linked 21", "MONDO:0010257": "HPCX1", "MONDO:0010259": "retinitis pigmentosa 24", "MONDO:0010260": "ACLLX", "MONDO:0010262": "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses", "MONDO:0010266": "intellectual disability, X-linked 58", "MONDO:0010267": "EMWX", "MONDO:0010273": "lymphoma, Hodgkin, X-linked pseudoautosomal", "MONDO:0010274": "TGCT1", "MONDO:0010276": "radioulnar synostosis, radial ray abnormalities, and severe malformations in the male", "MONDO:0010280": "ptosis, hereditary congenital 2", "MONDO:0010282": "Mycobacterium tuberculosis, susceptibility to, X-linked", "MONDO:0010289": "intellectual disability, X-linked 72", "MONDO:0010290": "MNG2", "MONDO:0010291": "obsolete androgen insensitivity syndrome due to coactivator deficiency", "MONDO:0010292": "Uruguay Faciocardiomusculoskeletal syndrome", "MONDO:0010296": "AGMX2", "MONDO:0010297": "FG syndrome 2", "MONDO:0010300": "MRX53", "MONDO:0010304": "Graves disease, susceptibility to, X-linked 1", "MONDO:0010307": "MRX73", "MONDO:0010308": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia", "MONDO:0010309": "MRX42", "MONDO:0010312": "radial ray deficiency, X-linked", "MONDO:0010313": "intellectual disability, X-linked 63", "MONDO:0010314": "BPPX", "MONDO:0010316": "FG syndrome 3", "MONDO:0010317": "intellectual disability, X-linked, with or without seizures, arx-related", "MONDO:0010318": "FG syndrome 4", "MONDO:0010320": "retinitis pigmentosa 23", "MONDO:0010321": "autism, susceptibility to, X-linked 1", "MONDO:0010322": "MRX2", "MONDO:0010324": "MRX81", "MONDO:0010326": "intellectual disability, X-linked 46", "MONDO:0010329": "MRX77", "MONDO:0010331": "coronary heart disease, susceptibility to, 3", "MONDO:0010335": "X-linked cone-rod dystrophy 3", "MONDO:0010341": "autism, susceptibility to, X-linked 2", "MONDO:0010342": "autism, susceptibility to, X-linked 3", "MONDO:0010344": "intellectual disability, X-linked 45", "MONDO:0010346": "MRX52", "MONDO:0010347": "MRX84", "MONDO:0010348": "dyslexia, susceptibility to, 9", "MONDO:0010349": "ovarian dysgenesis 2", "MONDO:0010350": "premature ovarian failure 2A", "MONDO:0010351": "Fanconi anemia complementation group b", "MONDO:0010352": "MRX82", "MONDO:0010357": "MRX78", "MONDO:0010358": "hypophosphatemic rickets, X-linked recessive", "MONDO:0010360": "PARK12", "MONDO:0010361": "intellectual disability, X-linked 30", "MONDO:0010363": "intellectual disability, X-linked 91", "MONDO:0010365": "CFTDX", "MONDO:0010366": "FG syndrome 5", "MONDO:0010369": "NYS5", "MONDO:0010370": "Cornelia de Lange syndrome 2", "MONDO:0010373": "premature ovarian failure 2B", "MONDO:0010374": "retinitis pigmentosa 34", "MONDO:0010377": "MYP13", "MONDO:0010380": "cataract, ataxia, short stature, and mental retardation", "MONDO:0010381": "Tn polyagglutination syndrome", "MONDO:0010384": "hypospadias 1, X-linked", "MONDO:0010387": "obsolete invasive pneumococcal disease, recurrent isolated, 2", "MONDO:0010388": "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked", "MONDO:0010391": "angioma serpiginosum, X-linked", "MONDO:0010393": "intellectual disability, X-linked 93", "MONDO:0010394": "leukoencephalopathy-metaphyseal chondrodysplasia syndrome", "MONDO:0010398": "syndromic X-linked intellectual disability 14", "MONDO:0010402": "syndromic X-linked intellectual disability 94", "MONDO:0010405": "HPCX2", "MONDO:0010406": "chromosome Xp11.22 duplication syndrome", "MONDO:0010410": "AGA2", "MONDO:0010411": "IHPS4", "MONDO:0010413": "MRX95", "MONDO:0010414": "myopathy, reducing body, X-linked, early-onset, severe", "MONDO:0010415": "myopathy, reducing body, X-linked, childhood-onset", "MONDO:0010416": "deafness, cataract, retinitis pigmentosa, and sperm abnormalities", "MONDO:0010422": "Alzheimer disease 16", "MONDO:0010423": "hypospadias 2, X-linked", "MONDO:0010424": "surfactant metabolism dysfunction, pulmonary, 4", "MONDO:0010427": "syndromic X-linked intellectual disability Raymond type", "MONDO:0010429": "intellectual disability, X-linked 96", "MONDO:0010430": "intellectual disability, X-linked 97", "MONDO:0010431": "Joubert syndrome 10", "MONDO:0010432": "thrombophilia, X-linked, due to factor 9 defect", "MONDO:0010433": "SLEB15", "MONDO:0010435": "nystagmus 6, congenital, X-linked", "MONDO:0010436": "chromosome Xq28 duplication syndrome", "MONDO:0010438": "paroxysmal nocturnal hemoglobinuria 1", "MONDO:0010439": "cardiomyopathy, fatal fetal, due to myocardial calcification", "MONDO:0010440": "autism, susceptibility to, X-linked 4", "MONDO:0010442": "46,XX sex reversal 3", "MONDO:0010443": "macular degeneration, X-linked atrophic", "MONDO:0010447": "intellectual disability, X-linked 19", "MONDO:0010449": "autism, susceptibility to, X-linked 5", "MONDO:0010450": "MRX89", "MONDO:0010451": "intellectual disability, X-linked 41", "MONDO:0010452": "intellectual disability, X-linked 90", "MONDO:0010453": "MRX92", "MONDO:0010454": "MRX88", "MONDO:0010456": "renal cell carcinoma, Xp11-associated", "MONDO:0010458": "hypospadias 4, X-linked", "MONDO:0010459": "amyotrophic lateral sclerosis type 15", "MONDO:0010462": "syndromic X-linked intellectual disability Chudley-Schwartz type", "MONDO:0010465": "Kabuki syndrome 2", "MONDO:0010468": "ANIB5", "MONDO:0010469": "epsilon-trimethyllysine hydroxylase deficiency", "MONDO:0010470": "Baratela-Scott syndrome", "MONDO:0010471": "Cornelia de Lange syndrome 5", "MONDO:0010474": "linear skin defects with multiple congenital anomalies 2", "MONDO:0010484": "deafness, X-linked 6", "MONDO:0010486": "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked", "MONDO:0010487": "intellectual disability, X-linked 99", "MONDO:0010488": "intellectual disability, X-linked 100", "MONDO:0010489": "intellectual disability, X-linked 101", "MONDO:0010492": "pituitary adenoma, growth hormone-secreting, 2", "MONDO:0010493": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis", "MONDO:0010494": "linear skin defects with multiple congenital anomalies 3", "MONDO:0010495": "trichothiodystrophy 5, nonphotosensitive", "MONDO:0010497": "intellectual disability, X-linked 102", "MONDO:0010499": "Ritscher-Schinzel syndrome 2", "MONDO:0010500": "intellectual disability, X-linked, syndromic 33", "MONDO:0010502": "intellectual disability, X-linked 99, syndromic, female-restricted", "MONDO:0010504": "immunodeficiency 47", "MONDO:0010506": "intellectual disability, X-linked 61", "MONDO:0010508": "intellectual disability, X-linked 103", "MONDO:0010509": "intellectual disability, X-linked 104", "MONDO:0010510": "intellectual disability, X-linked 105", "MONDO:0010511": "vas deferens, congenital bilateral aplasia of, X-linked", "MONDO:0010515": "Meester-Loeys syndrome", "MONDO:0010516": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis", "MONDO:0010517": "ciliary dyskinesia, primary, 36, X-linked", "MONDO:0010521": "amelogenesis imperfecta type 1E", "MONDO:0010522": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2", "MONDO:0010525": "neural tube defects, X-linked", "MONDO:0010527": "microphthalmia-ankyloblepharon-intellectual disability syndrome", "MONDO:0010536": "tubulin, beta", "MONDO:0010542": "dilated cardiomyopathy 3B", "MONDO:0010544": "cataract 40", "MONDO:0010546": "central incisors, absence of", "MONDO:0010548": "spinocerebellar ataxia, X-linked 2", "MONDO:0010552": "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita", "MONDO:0010553": "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined", "MONDO:0010566": "X-linked cone-rod dystrophy 1", "MONDO:0010567": "cone dystrophy, X-linked, with tapetal-like sheen", "MONDO:0010577": "deafness, X-linked 1", "MONDO:0010581": "diabetes insipidus, nephrogenic, X-linked", "MONDO:0010582": "diabetes insipidus, neurohypophyseal type", "MONDO:0010583": "Dyggve-Melchior-Clausen syndrome, X-linked", "MONDO:0010584": "dyskeratosis congenita, X-linked", "MONDO:0010587": "epidermodysplasia verruciformis, X-linked", "MONDO:0010588": "exudative vitreoretinopathy 2, X-linked", "MONDO:0010589": "Aarskog-Scott syndrome, X-linked", "MONDO:0010594": "inherited genitourinary tract anomalies (disease)", "MONDO:0010596": "membranoproliferative glomerulonephritis, X-linked", "MONDO:0010597": "glutamyl ribose-5-phosphate storage disease", "MONDO:0010598": "glycogen storage disease IXa", "MONDO:0010599": "granulomas, congenital cerebral", "MONDO:0010600": "granulomatous disease, chronic, X-linked", "MONDO:0010601": "gynecomastia, familial", "MONDO:0010603": "hemophilia A with vascular abnormality", "MONDO:0010605": "hemopoietic proliferation", "MONDO:0010606": "hernia, anterior diaphragmatic", "MONDO:0010607": "heterotaxy, visceral, 1, X-linked", "MONDO:0010608": "Hhhh syndrome", "MONDO:0010620": "hypouricemia, familial renal, due to tubular hypersecretion", "MONDO:0010625": "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein", "MONDO:0010628": "immunoglobulin M, level of", "MONDO:0010629": "impacted teeth, multiple", "MONDO:0010630": "imprinting gene related to retinoblastoma", "MONDO:0010632": "epileptic encephalopathy, early infantile, 1", "MONDO:0010633": "iris hypoplasia with glaucoma", "MONDO:0010634": "jaundice, familial obstructive, of infancy", "MONDO:0010635": "hypogonadotropic hypogonadism 1 with or without anosmia", "MONDO:0010636": "Kallmann syndrome with spastic paraplegia", "MONDO:0010637": "keratosis follicularis spinulosa decalvans, X-linked", "MONDO:0010640": "Leber optic atrophy, susceptibility to", "MONDO:0010642": "Lesch-Nyhan phenotype with normal HGPRT", "MONDO:0010644": "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", "MONDO:0010646": "macular dystrophy, X-linked", "MONDO:0010647": "spermatogenic failure, X-linked, 2", "MONDO:0010648": "major affective disorder 2", "MONDO:0010660": "intellectual disability, X-linked 9", "MONDO:0010666": "Miles-Carpenter syndrome", "MONDO:0010673": "modifier, X-linked, for Neurofunctional defects", "MONDO:0010675": "muscular dystrophy, cardiac type", "MONDO:0010676": "muscular dystrophy, Hemizygous lethal type", "MONDO:0010677": "muscular dystrophy, Mabry type", "MONDO:0010678": "muscular dystrophy, progressive Pectorodorsal", "MONDO:0010681": "myelolymphatic insufficiency", "MONDO:0010682": "myoclonic epilepsy, progressive", "MONDO:0010685": "MYP1", "MONDO:0010687": "nephrolithiasis, X-linked recessive, with renal failure", "MONDO:0010688": "hereditary sensory neuropathy X-linked", "MONDO:0010690": "congenital stationary night blindness 1A", "MONDO:0010692": "nuclear ribonucleic acid", "MONDO:0010693": "nystagmus 1, congenital, X-linked", "MONDO:0010694": "nystagmus, myoclonic", "MONDO:0010695": "occipital hair, white lock of", "MONDO:0010696": "omphalocele, X-linked", "MONDO:0010697": "OPEM", "MONDO:0010700": "optic atrophy--spastic paraplegia syndrome", "MONDO:0010705": "ouabain resistance", "MONDO:0010707": "Paine syndrome", "MONDO:0010712": "panhypopituitarism, X-linked", "MONDO:0010719": "radiation sensitivity of natural killer activity", "MONDO:0010721": "reticuloendotheliosis, X-linked", "MONDO:0010723": "retinitis pigmentosa 2", "MONDO:0010727": "Russell-silver syndrome, X-linked", "MONDO:0010730": "combined immunodeficiency, X-linked", "MONDO:0010734": "spatial visualization, aptitude for", "MONDO:0010736": "split hand-foot malformation 2", "MONDO:0010737": "spondyloepiphyseal dysplasia tarda, X-linked", "MONDO:0010739": "Taqi polymorphism", "MONDO:0010740": "taurodontism, microdontia, and dens invaginatus", "MONDO:0010741": "tooth agenesis, selective, X-linked, 1", "MONDO:0010744": "thrombocytopenia with elevated serum IgA and renal disease", "MONDO:0010746": "thumbs, congenital Clasped", "MONDO:0010751": "unique green phenomenon", "MONDO:0010752": "VACTERL association, X-linked, with or without hydrocephalus", "MONDO:0010755": "vesicoureteral reflux, X-linked", "MONDO:0010756": "Von Willebrand disease, X-linked form", "MONDO:0010757": "widow'S peak syndrome", "MONDO:0010761": "retinitis pigmentosa Y-linked", "MONDO:0010762": "lymphoma, Hodgkin, Y-linked pseudoautosomal", "MONDO:0010763": "spermatogenic failure, Y-linked, 1", "MONDO:0010764": "DFNY1", "MONDO:0010767": "spermatogenic failure, Y-linked, 2", "MONDO:0010769": "hairy ears, Y-linked", "MONDO:0010770": "ubiquitin-activating enzyme, Y-linked", "MONDO:0010772": "Leber optic atrophy and dystonia", "MONDO:0010774": "striatonigral degeneration, infantile, mitochondrial", "MONDO:0010775": "retinitis pigmentosa-deafness syndrome", "MONDO:0010776": "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial", "MONDO:0010777": "cardiomyopathy, infantile hypertrophic", "MONDO:0010778": "cyclic vomiting syndrome", "MONDO:0010781": "ataxia and polyneuropathy, adult-onset", "MONDO:0010782": "myopathy, lactic acidosis, and sideroblastic anemia 3", "MONDO:0010784": "chloramphenicol toxicity", "MONDO:0010791": "myoglobinuria, recurrent", "MONDO:0010793": "nephropathy, chronic tubulointerstitial", "MONDO:0010795": "oncocytic neoplasm", "MONDO:0010796": "Parkinson disease, mitochondrial", "MONDO:0010800": "Wolfram syndrome, mitochondrial form", "MONDO:0010804": "BRCATA", "MONDO:0010806": "retinitis pigmentosa 13", "MONDO:0010807": "autosomal recessive nonsyndromic deafness 2", "MONDO:0010809": "familial chronic myelocytic leukemia-like syndrome", "MONDO:0010810": "vitamin D hydroxylation-deficient rickets, type 1B", "MONDO:0010811": "benign prostatic hyperplasia (disease)", "MONDO:0010812": "macrocytosis, familial", "MONDO:0010815": "spondyloepiphyseal dysplasia tarda with characteristic facies", "MONDO:0010817": "autosomal dominant nonsyndromic deafness 2A", "MONDO:0010818": "retinitis pigmentosa 12", "MONDO:0010819": "Stargardt disease 3", "MONDO:0010820": "autosomal recessive juvenile Parkinson disease 2", "MONDO:0010822": "Warburg micro syndrome 1", "MONDO:0010827": "retinitis pigmentosa 14", "MONDO:0010828": "retinitis pigmentosa 11", "MONDO:0010832": "Bardet-Biedl syndrome 3", "MONDO:0010833": "Hirschsprung disease, susceptibility to, 2", "MONDO:0010834": "Hirschsprung disease, susceptibility to, 5", "MONDO:0010836": "NNO1", "MONDO:0010838": "gonadal agenesis", "MONDO:0010841": "Waardenburg syndrome type 2B", "MONDO:0010843": "dyslexia, susceptibility to, 2", "MONDO:0010844": "epiphyseal dysplasia, multiple, 2", "MONDO:0010846": "EXT3", "MONDO:0010852": "chromosome 8Q12.1-q21.2 deletion syndrome", "MONDO:0010853": "Helicobacter pylori infection, susceptibility to", "MONDO:0010859": "atrioventricular septal defect 3", "MONDO:0010860": "autosomal recessive nonsyndromic deafness 3", "MONDO:0010861": "type 1 diabetes mellitus 3", "MONDO:0010862": "type 1 diabetes mellitus 4", "MONDO:0010863": "type 1 diabetes mellitus 5", "MONDO:0010864": "type 1 diabetes mellitus 7", "MONDO:0010868": "rippling muscle disease 1", "MONDO:0010869": "motor neuron disease with dementia and ophthalmoplegia", "MONDO:0010872": "PDDP", "MONDO:0010873": "band heterotopia of brain", "MONDO:0010874": "enteropathy, familial, with villous edema and immunoglobulin G2 deficiency", "MONDO:0010875": "pachydermodactyly, familial", "MONDO:0010880": "telangiectasia, hereditary hemorrhagic, type 2", "MONDO:0010884": "muscular dystrophy, scapulohumeral", "MONDO:0010885": "angiokeratoma corporis diffusum with arteriovenous fistulas", "MONDO:0010888": "endometriosis of uterus", "MONDO:0010893": "malignant hyperthermia, susceptibility to, 4", "MONDO:0010894": "maturity-onset diabetes of the young type 3", "MONDO:0010897": "SCZD3", "MONDO:0010899": "autosomal dominant nocturnal frontal lobe epilepsy 1", "MONDO:0010900": "intrauterine growth retardation with increased mitomycin c sensitivity", "MONDO:0010903": "craniosynostosis, Adelaide type", "MONDO:0010904": "setting-Sun phenomenon, familial benign", "MONDO:0010905": "cone-rod dystrophy 1", "MONDO:0010906": "orofacial cleft 11", "MONDO:0010909": "UV-sensitive syndrome 1", "MONDO:0010910": "ENUR1", "MONDO:0010912": "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement", "MONDO:0010915": "autosomal dominant nonsyndromic deafness 4A", "MONDO:0010916": "polycystic kidney disease 3", "MONDO:0010917": "CCAL1", "MONDO:0010919": "varicella, severe recurrent", "MONDO:0010927": "OFC3", "MONDO:0010928": "dwarfism, familial, with muscle spasms", "MONDO:0010929": "craniosynostosis 4", "MONDO:0010931": "vitamin D-dependent rickets, type 2B", "MONDO:0010933": "autosomal recessive nonsyndromic deafness 4", "MONDO:0010936": "frontotemporal dementia, chromosome 3-linked", "MONDO:0010937": "isoproterenol-mediated vasodilatation", "MONDO:0010940": "inherited susceptibility to asthma", "MONDO:0010941": "nocturnal enuresis, 2", "MONDO:0010942": "obsolete eukaryotic translation elongation factor 1 alpha-1-like 14", "MONDO:0010943": "schizophrenia 4", "MONDO:0010944": "mitochondrial import-stimulating factor", "MONDO:0010945": "retinitis pigmentosa 17", "MONDO:0010946": "hypertrophic cardiomyopathy 6", "MONDO:0010948": "cataract 10 multiple types", "MONDO:0010950": "type 1 diabetes mellitus 8", "MONDO:0010951": "dilated cardiomyopathy 1B", "MONDO:0010953": "Fanconi anemia complementation group E", "MONDO:0010954": "Wiskott-Aldrich syndrome, autosomal dominant form", "MONDO:0010955": "ectodermal dysplasia with intellectual disability and syndactyly", "MONDO:0010956": "enamel hypoplasia, cataracts, and aqueductal stenosis", "MONDO:0010958": "cardiac arrhythmia, ankyrin-b-related", "MONDO:0010960": "protocadherin 3", "MONDO:0010963": "autosomal dominant nonsyndromic deafness 6", "MONDO:0010964": "epiphyseal dysplasia, multiple, 3", "MONDO:0010965": "autosomal recessive nonsyndromic deafness 6", "MONDO:0010967": "autosomal recessive nonsyndromic deafness 7", "MONDO:0010968": "GLC3B", "MONDO:0010969": "cone-rod dystrophy 5", "MONDO:0010970": "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies", "MONDO:0010973": "autosomal dominant nonsyndromic deafness 5", "MONDO:0010974": "nephrotic syndrome, type 2", "MONDO:0010978": "portal vein, cavernous transformation of", "MONDO:0010982": "ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin", "MONDO:0010984": "Usher syndrome type 1D", "MONDO:0010985": "FAME1", "MONDO:0010986": "autosomal recessive nonsyndromic deafness 9", "MONDO:0010987": "autosomal recessive nonsyndromic deafness 8", "MONDO:0010990": "Cd4/CD8 T-cell ratio", "MONDO:0010991": "laterality defects, autosomal dominant", "MONDO:0011000": "guanylate cyclase 2E", "MONDO:0011001": "Brugada syndrome 1", "MONDO:0011002": "neuropathy, hereditary motor and sensory, type 6A", "MONDO:0011003": "dilated cardiomyopathy 1E", "MONDO:0011005": "trisomy 18-like syndrome", "MONDO:0011009": "muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers", "MONDO:0011013": "autosomal dominant hypocalcemia 1", "MONDO:0011015": "cataract 24", "MONDO:0011016": "type 1 diabetes mellitus 11", "MONDO:0011021": "neuronal intestinal dysplasia, type b", "MONDO:0011024": "dermatitis herpetiformis, familial", "MONDO:0011026": "autosomal recessive congenital ichthyosis 4A", "MONDO:0011027": "diabetes mellitus, noninsulin-dependent, 1", "MONDO:0011029": "myeloid tumor suppressor", "MONDO:0011030": "epithelial basolateral chloride conductance regulator, rabbit, homolog of", "MONDO:0011031": "autosomal dominant nonsyndromic deafness 10", "MONDO:0011032": "autosomal dominant nonsyndromic deafness 11", "MONDO:0011033": "type 1 diabetes mellitus 13", "MONDO:0011037": "renal dysplasia, cystic, susceptibility to", "MONDO:0011039": "atrophia maculosa varioliformis cutis, familial", "MONDO:0011040": "spinal dysplasia, Anhalt type", "MONDO:0011043": "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay", "MONDO:0011044": "ectrodactyly of lower limbs, congenital heart defect, and micrognathia", "MONDO:0011052": "amelia cleft lip palate hydrocephalus iris coloboma", "MONDO:0011056": "Wilms tumor 4", "MONDO:0011058": "autosomal dominant nonsyndromic deafness 9", "MONDO:0011061": "chorea, remitting, with nystagmus and cataract", "MONDO:0011067": "autosomal recessive nonsyndromic deafness 12", "MONDO:0011068": "type 1 diabetes mellitus 12", "MONDO:0011069": "cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction", "MONDO:0011070": "van Maldergem syndrome 1", "MONDO:0011072": "NIDDM2", "MONDO:0011074": "autosomal dominant nonsyndromic deafness 7", "MONDO:0011075": "retinitis pigmentosa 18", "MONDO:0011077": "microcephaly, corpus callosum dysgenesis, and cleft lip/palate", "MONDO:0011084": "PSORS3", "MONDO:0011087": "inflammatory bowel disease 2", "MONDO:0011088": "congenital myasthenic syndrome 1A", "MONDO:0011089": "patent ductus venosus", "MONDO:0011092": "ribbing disease", "MONDO:0011094": "dilated cardiomyopathy 1C", "MONDO:0011095": "dilated cardiomyopathy 1D", "MONDO:0011097": "Axenfeld-Rieger syndrome type 2", "MONDO:0011098": "prostate cancer, hereditary, 1", "MONDO:0011100": "microcephaly, retinitis pigmentosa, and sutural cataract", "MONDO:0011101": "peroxisome biogenesis disorder 1B", "MONDO:0011102": "autosomal dominant nonsyndromic deafness 12", "MONDO:0011103": "autosomal dominant nonsyndromic deafness 3A", "MONDO:0011104": "cataract 3 multiple types", "MONDO:0011105": "alacrima, congenital, autosomal recessive", "MONDO:0011111": "horns in sheep", "MONDO:0011112": "Wilms tumor 5", "MONDO:0011115": "spastic paraplegia and Evans syndrome", "MONDO:0011117": "iris pigment epithelium anomalies", "MONDO:0011120": "neural tube defects, folate-sensitive", "MONDO:0011121": "paragangliomas 2", "MONDO:0011123": "type 1 diabetes mellitus 15", "MONDO:0011126": "acute insulin response", "MONDO:0011129": "glaucoma type 1C", "MONDO:0011130": "sebaceous gland hyperplasia, familial presenile", "MONDO:0011135": "superior transverse scapular ligament, calcification of, familial", "MONDO:0011137": "retinitis pigmentosa 19", "MONDO:0011138": "systemic lupus erythematosus, susceptibility to, 1", "MONDO:0011139": "preaxial hallucal polydactyly", "MONDO:0011141": "folate level in erythrocytes", "MONDO:0011143": "cone-rod dystrophy 6", "MONDO:0011148": "Spondylospinal thoracic dysostosis", "MONDO:0011149": "premature aging syndrome, Okamoto type", "MONDO:0011151": "exudative vitreoretinopathy 4", "MONDO:0011153": "hyperinsulinemic hypoglycemia, familial, 2", "MONDO:0011155": "vacuolar Neuromyopathy", "MONDO:0011158": "autoimmune lymphoproliferative syndrome type 1", "MONDO:0011159": "autosomal dominant nonsyndromic deafness 13", "MONDO:0011160": "autosomal recessive nonsyndromic deafness 15", "MONDO:0011161": "sperm-specific antigen 1", "MONDO:0011162": "cataract 14 multiple types", "MONDO:0011163": "malignant hyperthermia, susceptibility to, 5", "MONDO:0011164": "malignant hyperthermia, susceptibility to, 6", "MONDO:0011165": "glomerulopathy with fibronectin deposits 2", "MONDO:0011167": "type 1 diabetes mellitus 6", "MONDO:0011168": "type 1 diabetes mellitus 10", "MONDO:0011172": "otofacioosseous-gonadal syndrome", "MONDO:0011173": "thrombocythemia 2", "MONDO:0011175": "FRDA2", "MONDO:0011177": "ectodermal dysplasia 4, hair/nail type", "MONDO:0011179": "leishmaniasis, tegumentary, susceptibility to", "MONDO:0011180": "broad terminal phalanges, familial", "MONDO:0011181": "fibrosis of extraocular muscles, congenital, 2", "MONDO:0011183": "Paget disease of bone 2, early-onset", "MONDO:0011186": "Usher syndrome type 1F", "MONDO:0011187": "polydactyly, postaxial, type A2", "MONDO:0011188": "arrhythmogenic right ventricular dysplasia 3", "MONDO:0011189": "arrhythmogenic right ventricular dysplasia 4", "MONDO:0011192": "autosomal recessive nonsyndromic deafness 18A", "MONDO:0011193": "cone dystrophy 3", "MONDO:0011194": "Alzheimer disease 5", "MONDO:0011195": "Usher syndrome type 1E", "MONDO:0011196": "amyotrophic lateral sclerosis type 5", "MONDO:0011199": "nephropathy, progressive tubulointerstitial, with cholestatic liver disease", "MONDO:0011201": "ETM2", "MONDO:0011203": "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies", "MONDO:0011204": "cerebellar degeneration-related autoantigen 3", "MONDO:0011205": "medium chain 3-ketoacyl-Coa thiolase deficiency", "MONDO:0011206": "ventriculomegaly with defects of the radius and kidney", "MONDO:0011207": "xanthomatosis, susceptibility to", "MONDO:0011209": "progeroid facial appearance with hand anomalies", "MONDO:0011210": "mitochondrial intermembrane space protein Tim12, yeast, homolog of", "MONDO:0011212": "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth", "MONDO:0011216": "hemochromatosis type 2A", "MONDO:0011220": "PARK3", "MONDO:0011221": "Weyers ulnar ray/oligodactyly syndrome", "MONDO:0011222": "GLC1D", "MONDO:0011226": "autosomal dominant nonsyndromic deafness 15", "MONDO:0011228": "creases, infra-auricular cutaneous, with tall stature and advanced bone age", "MONDO:0011230": "ossification of the posterior longitudinal ligament of the spine", "MONDO:0011232": "migraine, familial hemiplegic, 2", "MONDO:0011233": "Axenfeld-Rieger syndrome type 3", "MONDO:0011234": "auriculocondylar syndrome 1", "MONDO:0011237": "hyperlipidemia, combined, 1", "MONDO:0011238": "chondrodysplasia punctata, brachytelephalangic, autosomal", "MONDO:0011241": "pseudoacromegaly with severe insulin resistance", "MONDO:0011242": "Bartter disease type 4a", "MONDO:0011245": "ichthyosis, hystrix-like, with deafness", "MONDO:0011247": "jejunal atresia with renal adysplasia", "MONDO:0011249": "torsion dystonia with onset in infancy", "MONDO:0011250": "microcephaly, macrotia, and mental retardation", "MONDO:0011251": "facial dysmorphism, cleft palate, hearing loss, and camptodactyly", "MONDO:0011254": "brachydactyly, intraventricular septal defect, and deafness", "MONDO:0011256": "emphysema, congenital, with deafness, penoscrotal web, and mental retardation", "MONDO:0011258": "branchiootic syndrome 1", "MONDO:0011259": "retinitis pigmentosa 22", "MONDO:0011260": "pancreatic lymphoma, familial", "MONDO:0011263": "skeletal dysplasia and progressive central nervous system degeneration, lethal", "MONDO:0011265": "STHAG2", "MONDO:0011267": "intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration", "MONDO:0011268": "renal tubular acidosis, distal, autosomal recessive", "MONDO:0011269": "psoriasis 2", "MONDO:0011270": "prostate cancer, hereditary, 8", "MONDO:0011271": "rigid spine muscular dystrophy 1", "MONDO:0011272": "retinitis pigmentosa 25", "MONDO:0011276": "OFC2", "MONDO:0011277": "obsolete leukoregulin", "MONDO:0011279": "autosomal recessive nonsyndromic deafness 17", "MONDO:0011280": "SCZD6", "MONDO:0011281": "congenital myasthenic syndrome 5", "MONDO:0011282": "tumor suppressor gene on chromosome 11", "MONDO:0011283": "mitochondrial DNA depletion syndrome 1", "MONDO:0011284": "astigmatism (disease)", "MONDO:0011285": "age related macular degeneration 1", "MONDO:0011286": "autosomal recessive nonsyndromic deafness 13", "MONDO:0011288": "spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal", "MONDO:0011289": "apraxia of eyelid opening", "MONDO:0011290": "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation", "MONDO:0011294": "SCZD5", "MONDO:0011295": "SCZD7", "MONDO:0011296": "Meckel syndrome, type 2", "MONDO:0011297": "autosomal dominant nocturnal frontal lobe epilepsy 2", "MONDO:0011298": "SCZD8", "MONDO:0011300": "MYP3", "MONDO:0011302": "type 1 diabetes mellitus 17", "MONDO:0011304": "cerebral cavernous malformation 2", "MONDO:0011305": "cerebral cavernous malformation 3", "MONDO:0011306": "muscular dystrophy, congenital, with cerebellar atrophy", "MONDO:0011307": "SCZD2", "MONDO:0011310": "long chain fatty acids, defect in transport of", "MONDO:0011311": "glaucoma 1, open angle, f", "MONDO:0011312": "thyroid carcinoma, nonmedullary, with or without cell oxyphilia", "MONDO:0011313": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "MONDO:0011314": "Graves disease, susceptibility to, 2", "MONDO:0011315": "Osebold skeletal dysplasia/osteolysis syndrome", "MONDO:0011316": "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions", "MONDO:0011317": "microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects", "MONDO:0011318": "Tonoki syndrome", "MONDO:0011319": "activator of liver function 1", "MONDO:0011321": "expansile bone lesions", "MONDO:0011322": "Oroacral syndrome, Verloes-Koulischer type", "MONDO:0011325": "Fanconi anemia complementation group f", "MONDO:0011326": "citrullinemia, type II, adult-onset", "MONDO:0011332": "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin", "MONDO:0011336": "familial hemophagocytic lymphohistiocytosis 4", "MONDO:0011337": "familial hemophagocytic lymphohistiocytosis 2", "MONDO:0011341": "microcephaly, facial abnormalities, micromelia, and mental retardation", "MONDO:0011343": "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts", "MONDO:0011344": "parotitis, juvenile recurrent", "MONDO:0011345": "facial dysmorphism, selective tooth agenesis, and choroid calcification", "MONDO:0011347": "craniosynostosis with ectopia lentis", "MONDO:0011349": "osteoma of cranial vault, familial", "MONDO:0011350": "autosomal dominant nonsyndromic deafness 17", "MONDO:0011351": "autosomal recessive nonsyndromic deafness 21", "MONDO:0011352": "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia", "MONDO:0011353": "atrial septal defect, secundum, with various cardiac and Noncardiac defects", "MONDO:0011354": "situs inversus totalis with cystic dysplasia of kidneys and pancreas", "MONDO:0011355": "cone-rod dystrophy 7", "MONDO:0011356": "exostosis, Dupuytren subungual", "MONDO:0011357": "eccrine syringofibroadenomatosis with eyelid abnormalities", "MONDO:0011358": "blue nevi, familial multiple", "MONDO:0011360": "autosomal recessive nonsyndromic deafness 14", "MONDO:0011361": "prostate cancer/brain cancer susceptibility", "MONDO:0011363": "diabetes mellitus, noninsulin-dependent, 3", "MONDO:0011364": "autosomal recessive nonsyndromic deafness 16", "MONDO:0011366": "ovarian germ cell tumor", "MONDO:0011367": "Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia", "MONDO:0011368": "papillary thyroid Microcarcinoma", "MONDO:0011369": "hypercholesterolemia, autosomal dominant, 3", "MONDO:0011370": "Stargardt disease 4", "MONDO:0011371": "hydroa vacciniforme, familial", "MONDO:0011372": "microcephaly with simplified gyral pattern", "MONDO:0011373": "urinary tract infections, recurrent, susceptibility to", "MONDO:0011374": "autosomal recessive hypercholesterolemia", "MONDO:0011375": "brittle bone disorder", "MONDO:0011376": "idiopathic ventricular fibrillation, non Brugada type", "MONDO:0011377": "long QT syndrome 3", "MONDO:0011378": "CFM1", "MONDO:0011383": "autoimmune lymphoproliferative syndrome type 2A", "MONDO:0011384": "hypertension, essential, susceptibility to, 1", "MONDO:0011385": "intervertebral disc degenerative disorder", "MONDO:0011386": "microvascular complications of diabetes, susceptibility to, 1", "MONDO:0011387": "PSORS4", "MONDO:0011389": "autosomal dominant nonsyndromic deafness 16", "MONDO:0011390": "focal segmental glomerulosclerosis 2", "MONDO:0011392": "autosomal recessive nonsyndromic deafness 20", "MONDO:0011393": "apolipoprotein A-I deficiency", "MONDO:0011395": "cone-rod dystrophy 3", "MONDO:0011400": "dilated cardiomyopathy 1G", "MONDO:0011401": "Alzheimer disease without neurofibrillary tangles", "MONDO:0011403": "left ventricular noncompaction 1", "MONDO:0011404": "Caronte", "MONDO:0011406": "cholesteatoma, congenital", "MONDO:0011407": "facial paresis, hereditary congenital, 2", "MONDO:0011409": "hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection", "MONDO:0011410": "Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly", "MONDO:0011413": "cataract 9 multiple types", "MONDO:0011415": "Leber congenital amaurosis 3", "MONDO:0011416": "generalized epilepsy with febrile seizures plus, type 1", "MONDO:0011418": "dyslexia, susceptibility to, 3", "MONDO:0011419": "camera-Marugo-Cohen syndrome", "MONDO:0011421": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1", "MONDO:0011425": "dilated cardiomyopathy 1H", "MONDO:0011427": "Ascaris lumbricoides infection, susceptibility to", "MONDO:0011428": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3", "MONDO:0011433": "anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome", "MONDO:0011434": "PSORS5", "MONDO:0011435": "microcephaly 2, primary, autosomal recessive, with or without cortical malformations", "MONDO:0011437": "microcephaly 4, primary, autosomal recessive", "MONDO:0011440": "hypertension, essential, susceptibility to, 2", "MONDO:0011442": "advanced sleep phase syndrome 1", "MONDO:0011443": "febrile seizures, familial, 4", "MONDO:0011444": "Duane retraction syndrome 2", "MONDO:0011446": "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders", "MONDO:0011450": "breast-ovarian cancer, familial, susceptibility to, 1", "MONDO:0011451": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1", "MONDO:0011452": "hypotrichosis 7", "MONDO:0011453": "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia", "MONDO:0011455": "lissencephaly, familial, with cleft palate and cerebellar hypoplasia", "MONDO:0011456": "nephronophthisis 3", "MONDO:0011458": "Leber congenital amaurosis 4", "MONDO:0011459": "arrhythmogenic right ventricular dysplasia 5", "MONDO:0011460": "arrhythmogenic right ventricular dysplasia 6", "MONDO:0011461": "generalized epilepsy with febrile seizures plus, type 2", "MONDO:0011465": "infundibulocystic basal cell carcinoma", "MONDO:0011467": "obsolete human herpesvirus type 6, integrated", "MONDO:0011470": "hyperlipidemia, combined, 2", "MONDO:0011471": "inflammatory bowel disease 3", "MONDO:0011473": "Leber congenital amaurosis 5", "MONDO:0011474": "progressive familial heart block type IB", "MONDO:0011477": "tooth agenesis, selective, 3", "MONDO:0011478": "growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia", "MONDO:0011480": "autosomal dominant nonsyndromic deafness 20", "MONDO:0011482": "dilated cardiomyopathy 1I", "MONDO:0011483": "polycystic bone disease", "MONDO:0011484": "catecholaminergic polymorphic ventricular tachycardia 1", "MONDO:0011485": "autosomal recessive congenital ichthyosis 5", "MONDO:0011488": "microcephaly 3, primary, autosomal recessive", "MONDO:0011491": "EIG7", "MONDO:0011492": "mandibulofacial dysostosis syndrome, Bauru type", "MONDO:0011494": "hyaluronan metabolism, defect 1N", "MONDO:0011498": "schizophrenia 9", "MONDO:0011502": "Wolfram syndrome 2", "MONDO:0011503": "cortisone reductase deficiency 1", "MONDO:0011505": "familial hypobetalipoproteinemia 2", "MONDO:0011507": "diabetes mellitus, congenital autoimmune", "MONDO:0011508": "lymphoma, non-Hodgkin, familial", "MONDO:0011509": "low density lipoprotein cholesterol, mild elevation of", "MONDO:0011511": "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia", "MONDO:0011513": "Alzheimer disease, familial early-onset, with Coexisting amyloid and prion pathology", "MONDO:0011516": "early response to neural induction gene", "MONDO:0011519": "autosomal dominant nonsyndromic deafness 23", "MONDO:0011520": "systemic lupus erythematosus, susceptibility to, 2", "MONDO:0011521": "inflammatory bowel disease 7", "MONDO:0011523": "Bardet-Biedl syndrome 6", "MONDO:0011525": "Carney complex type 2", "MONDO:0011531": "Noonan syndrome 2", "MONDO:0011535": "split hand-foot malformation 4", "MONDO:0011536": "optic atrophy 4", "MONDO:0011538": "frontoocular syndrome", "MONDO:0011542": "PSORS6", "MONDO:0011543": "BRCA3", "MONDO:0011544": "paragangliomas 3", "MONDO:0011545": "autosomal dominant nocturnal frontal lobe epilepsy 3", "MONDO:0011546": "heterotaxy, visceral, 2, autosomal", "MONDO:0011547": "cataract 31 multiple types", "MONDO:0011548": "cerebral palsy, ataxic, autosomal recessive", "MONDO:0011549": "hypotrichosis 1", "MONDO:0011550": "fibromatosis, gingival, with hypertrichosis and mental retardation", "MONDO:0011552": "SCZD10", "MONDO:0011553": "autosomal recessive nonsyndromic deafness 26", "MONDO:0011554": "DFNM1", "MONDO:0011556": "BCC1", "MONDO:0011557": "radiation sensitivity/chromosome instability syndrome, autosomal dominant", "MONDO:0011558": "Usher syndrome type 2C", "MONDO:0011560": "SLEB3", "MONDO:0011561": "Alzheimer disease 6", "MONDO:0011562": "autosomal dominant Parkinson disease 4", "MONDO:0011563": "GINGF2", "MONDO:0011564": "cone-rod dystrophy 8", "MONDO:0011565": "metabolic syndrome X", "MONDO:0011566": "abdominal obesity-metabolic syndrome quantitative trait locus 2", "MONDO:0011567": "dilated cardiomyopathy 1K", "MONDO:0011568": "autosomal dominant nonsyndromic deafness 25", "MONDO:0011571": "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1", "MONDO:0011572": "type 1 diabetes mellitus 18", "MONDO:0011573": "PSORS7", "MONDO:0011574": "tetralogy of fallot syndrome, autosomal recessive", "MONDO:0011577": "myopathy, proximal, and ophthalmoplegia", "MONDO:0011580": "cerebellar ataxia and hypergonadotropic hypogonadism", "MONDO:0011583": "cerebral amyloid angiopathy, APP-related", "MONDO:0011586": "OTSC2", "MONDO:0011587": "cataract 25", "MONDO:0011588": "platelet-type bleeding disorder 12", "MONDO:0011589": "MCOPCB2", "MONDO:0011590": "anisomastia", "MONDO:0011591": "cataract 26 multiple types", "MONDO:0011592": "EVR3", "MONDO:0011593": "seizures, benign familial infantile, 2", "MONDO:0011594": "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis", "MONDO:0011596": "atopic dermatitis 2", "MONDO:0011597": "atopic dermatitis 3", "MONDO:0011598": "atopic dermatitis 4", "MONDO:0011600": "congenital myasthenic syndrome 4A", "MONDO:0011602": "autosomal recessive nonsyndromic deafness 27", "MONDO:0011606": "baby rattle pelvis dysplasia", "MONDO:0011607": "narcolepsy 2, susceptibility to", "MONDO:0011608": "atopic dermatitis 5", "MONDO:0011609": "atopic dermatitis 6", "MONDO:0011611": "short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting", "MONDO:0011613": "autosomal recessive early-onset Parkinson disease 6", "MONDO:0011616": "holoprosencephaly 6", "MONDO:0011617": "arthropathy, erosive", "MONDO:0011618": "liver fibrocystic disease and polydactyly", "MONDO:0011619": "crumpled helices and small mouth", "MONDO:0011622": "nephrolithiasis, uric acid, susceptibility to", "MONDO:0011625": "autosomal dominant nonsyndromic deafness 18", "MONDO:0011626": "acromegaloid features, overgrowth, cleft palate, and hernia", "MONDO:0011627": "AUTS5", "MONDO:0011630": "retinitis pigmentosa 28", "MONDO:0011632": "amyotrophic lateral sclerosis type 21", "MONDO:0011635": "MNG3", "MONDO:0011636": "Diamond-Blackfan anemia 2", "MONDO:0011637": "Sener syndrome", "MONDO:0011639": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis", "MONDO:0011641": "baculum, congenital absence of", "MONDO:0011642": "carnitine acetyltransferase deficiency", "MONDO:0011644": "pars planitis", "MONDO:0011646": "laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy", "MONDO:0011647": "Alzheimer disease 7", "MONDO:0011648": "radiation-induced meningioma", "MONDO:0011650": "atrioventricular septal defect, susceptibility to, 2", "MONDO:0011651": "intellectual disability, short stature, facial anomalies, and joint dislocations", "MONDO:0011653": "thyroid cancer, nonmedullary, 3", "MONDO:0011654": "intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism", "MONDO:0011656": "PDB4", "MONDO:0011657": "autosomal dominant nonsyndromic deafness 24", "MONDO:0011658": "autosomal recessive early-onset Parkinson disease 7", "MONDO:0011659": "HTX3", "MONDO:0011660": "autosomal dominant nonsyndromic deafness 22", "MONDO:0011661": "inflammatory bowel disease 5", "MONDO:0011662": "pathological gambling", "MONDO:0011667": "maturity-onset diabetes of the young type 4", "MONDO:0011668": "maturity-onset diabetes of the young type 6", "MONDO:0011673": "autosomal dominant nonsyndromic deafness 30", "MONDO:0011677": "Megarbane syndrome", "MONDO:0011678": "homozygous 11P15-p14 deletion syndrome", "MONDO:0011679": "craniosynostosis syndrome, autosomal recessive", "MONDO:0011680": "autosomal recessive congenital ichthyosis 3", "MONDO:0011684": "vitiligo-associated multiple autoimmune disease susceptibility 1", "MONDO:0011685": "polysubstance abuse, susceptibility to", "MONDO:0011689": "dyslexia, susceptibility to, 6", "MONDO:0011690": "Camurati-Engelmann disease, type 2", "MONDO:0011691": "amyotrophic lateral sclerosis type 3", "MONDO:0011693": "glaucoma, normal tension, susceptibility to", "MONDO:0011695": "melanoma, uveal, susceptibility to, 1", "MONDO:0011696": "melanoma, uveal, susceptibility to, 2", "MONDO:0011697": "Waardenburg syndrome type 2C", "MONDO:0011699": "inflammatory bowel disease 8", "MONDO:0011700": "inflammatory bowel disease 6", "MONDO:0011701": "inflammatory bowel disease 4", "MONDO:0011702": "dilated cardiomyopathy 1L", "MONDO:0011703": "spongiform encephalopathy with neuropsychiatric features", "MONDO:0011704": "GLC1B", "MONDO:0011705": "lymphangioleiomyomatosis", "MONDO:0011708": "autosomal dominant nonsyndromic deafness 36", "MONDO:0011709": "split hand-foot malformation 5", "MONDO:0011710": "specific language impairment 1", "MONDO:0011711": "specific language impairment 2", "MONDO:0011712": "van der Woude syndrome 2", "MONDO:0011713": "melanoma-pancreatic cancer syndrome", "MONDO:0011714": "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome", "MONDO:0011715": "Seckel syndrome 2", "MONDO:0011716": "acute hemorrhagic leukoencephalitis", "MONDO:0011718": "primary ciliary dyskinesia 2", "MONDO:0011720": "spermatogenic failure 3", "MONDO:0011726": "peripheral arterial occlusive disease 1", "MONDO:0011727": "ANON1", "MONDO:0011729": "stroke, susceptibility to, 1", "MONDO:0011733": "PSMNSB", "MONDO:0011734": "Cardioneuromyopathy with hyaline masses and nemaline rods", "MONDO:0011736": "Cree mental retardation syndrome", "MONDO:0011737": "PARK10", "MONDO:0011739": "pancreatic cancer, susceptibility to, 1", "MONDO:0011741": "Hirschsprung disease, susceptibility to, 6", "MONDO:0011742": "Hirschsprung disease, susceptibility to, 7", "MONDO:0011743": "Alzheimer disease 4", "MONDO:0011745": "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery", "MONDO:0011746": "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch", "MONDO:0011747": "dyslexia, susceptibility to, 5", "MONDO:0011748": "Usher syndrome type 1G", "MONDO:0011750": "obsolete insulinoma tumor suppressor gene locus", "MONDO:0011752": "nephronophthisis 4", "MONDO:0011753": "EIG2", "MONDO:0011755": "SLSN3", "MONDO:0011756": "Senior-Loken syndrome 4", "MONDO:0011757": "brachydactyly type A1B", "MONDO:0011761": "autosomal dominant nonsyndromic deafness 21", "MONDO:0011762": "autosomal recessive nonsyndromic deafness 22", "MONDO:0011763": "T-box 24", "MONDO:0011764": "autosomal dominant Parkinson disease 8", "MONDO:0011767": "autosomal recessive nonsyndromic deafness 31", "MONDO:0011768": "myasthenia gravis with thymus hyperplasia", "MONDO:0011770": "aortic aneurysm, familial thoracic 2", "MONDO:0011774": "autosomal recessive nonsyndromic deafness 30", "MONDO:0011775": "nasopharyngeal carcinoma, susceptibility to, 1", "MONDO:0011777": "Alzheimer disease 8", "MONDO:0011779": "laryngeal atresia, encephalocele, and limb deformities", "MONDO:0011780": "specific language impairment 3", "MONDO:0011782": "angioid streaks", "MONDO:0011784": "Moyamoya disease 2", "MONDO:0011789": "familial meningioma", "MONDO:0011792": "thyroid dyshormonogenesis 6", "MONDO:0011793": "CELIAC5", "MONDO:0011796": "PEPS", "MONDO:0011799": "autosomal recessive nonsyndromic deafness 33", "MONDO:0011800": "glioma susceptibility 4", "MONDO:0011802": "hypercalciuria, absorptive, 1", "MONDO:0011805": "asthma-related traits, susceptibility to, 1", "MONDO:0011807": "SLEH1", "MONDO:0011808": "cataract 27", "MONDO:0011809": "Mammographic density", "MONDO:0011813": "polydactyly, postaxial, type A3", "MONDO:0011814": "Smith-McCort dysplasia 1", "MONDO:0011815": "hypertension, essential, susceptibility to, 3", "MONDO:0011817": "coronary heart disease, susceptibility to, 1", "MONDO:0011820": "scoliosis, isolated, susceptibility to, 2", "MONDO:0011821": "Meckel syndrome, type 3", "MONDO:0011824": "AUTS8", "MONDO:0011825": "streptococcus, group A, severity of infection by", "MONDO:0011826": "glucocorticoid deficiency 2", "MONDO:0011828": "intellectual disability, autosomal recessive 2", "MONDO:0011829": "coenzyme Q10 deficiency, primary, 1", "MONDO:0011831": "arrhythmogenic right ventricular dysplasia 8", "MONDO:0011832": "autosomal dominant nonsyndromic deafness 44", "MONDO:0011836": "thyroid Hurthle cell carcinoma", "MONDO:0011837": "vitamin K-dependent clotting factors, combined deficiency of, type 2", "MONDO:0011839": "Newfoundland cone-rod dystrophy", "MONDO:0011840": "dilated cardiomyopathy 1M", "MONDO:0011842": "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions", "MONDO:0011843": "hypertrophic cardiomyopathy 25", "MONDO:0011845": "migraine with or without aura, susceptibility to, 3", "MONDO:0011846": "bulimia nervosa, susceptibility to, 1", "MONDO:0011847": "migraine without aura", "MONDO:0011848": "headache associated with sexual activity", "MONDO:0011850": "migraine with or without aura, susceptibility to, 5", "MONDO:0011851": "migraine with or without aura, susceptibility to, 6", "MONDO:0011852": "nonsyndromic congenital nail disorder 8", "MONDO:0011853": "Camptosynpolydactyly, complex", "MONDO:0011854": "secretory diarrhea, myopathy, and deafness", "MONDO:0011857": "atrial fibrillation, familial, 3", "MONDO:0011858": "spastic paraplegia, ataxia, and mental retardation", "MONDO:0011860": "LPRS2", "MONDO:0011861": "breath-holding Spells", "MONDO:0011863": "prostate cancer aggressiveness quantitative trait locus on chromosome 19", "MONDO:0011864": "immunodeficiency, common variable, 1", "MONDO:0011866": "pontocerebellar hypoplasia type 1A", "MONDO:0011867": "microphthalmia with cyst, bilateral facial clefts, and limb anomalies", "MONDO:0011873": "Niemann-Pick disease, type C2", "MONDO:0011875": "epilepsy, idiopathic generalized, susceptibility to, 11", "MONDO:0011879": "neuronopathy, distal hereditary motor, type 7B", "MONDO:0011880": "CANDF3", "MONDO:0011881": "keratosis palmoplantaris striata 3", "MONDO:0011887": "cataract, congenital, with mental impairment and dentate gyrus atrophy", "MONDO:0011891": "febrile seizures, familial, 8", "MONDO:0011892": "epilepsy, idiopathic generalized, susceptibility to, 9", "MONDO:0011893": "autosomal dominant nonsyndromic deafness 52", "MONDO:0011896": "Parkinson disease 11, autosomal dominant, susceptibility to", "MONDO:0011897": "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome", "MONDO:0011898": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive", "MONDO:0011900": "POROK4", "MONDO:0011912": "autosomal recessive nonsyndromic deafness 37", "MONDO:0011913": "Alzheimer disease 3", "MONDO:0011914": "hypotrichosis-lymphedema-telangiectasia syndrome", "MONDO:0011915": "MMVP2", "MONDO:0011917": "focal segmental glomerulosclerosis 3, susceptibility to", "MONDO:0011918": "anxiety", "MONDO:0011919": "autoimmune disease, susceptibility to, 1", "MONDO:0011920": "autosomal dominant nonsyndromic deafness 48", "MONDO:0011921": "aural atresia, congenital", "MONDO:0011923": "osteoarthritis susceptibility 3", "MONDO:0011924": "panic disorder 2", "MONDO:0011926": "PSORS9", "MONDO:0011930": "epilepsy, familial adult myoclonic, 2", "MONDO:0011931": "OVCAS1", "MONDO:0011932": "hypotrichosis 6", "MONDO:0011935": "retinitis pigmentosa 30", "MONDO:0011937": "peeling skin syndrome 4", "MONDO:0011938": "atrial heart septal defect 2", "MONDO:0011941": "Mycobacterium tuberculosis, susceptibility to, 1", "MONDO:0011942": "SLEN1", "MONDO:0011943": "SLEN2", "MONDO:0011944": "SLEN3", "MONDO:0011949": "Thai symphalangism syndrome", "MONDO:0011951": "amyotrophic lateral sclerosis type 6", "MONDO:0011952": "amyotrophic lateral sclerosis type 7", "MONDO:0011954": "CMM4", "MONDO:0011955": "diabetes mellitus, noninsulin-dependent, 4", "MONDO:0011956": "AUTS3", "MONDO:0011958": "bile and pancreatic ducts, complete absence of", "MONDO:0011960": "schizophrenia 11", "MONDO:0011962": "endometrial cancer", "MONDO:0011963": "Joubert syndrome 2", "MONDO:0011965": "familial temporal lobe epilepsy 2", "MONDO:0011966": "periventricular heterotopia with microcephaly, autosomal recessive", "MONDO:0011967": "heterotopia, periventricular, associated with chromosome 5P anomalies", "MONDO:0011973": "zinc deficiency, transient neonatal", "MONDO:0011974": "retinitis pigmentosa 7", "MONDO:0011978": "CoQ-responsive OXPHOS deficiency", "MONDO:0011980": "autoimmune thyroid disease, susceptibility to, 1", "MONDO:0011981": "autoimmune thyroid disease, susceptibility to, 2", "MONDO:0011982": "autoimmune thyroid disease, susceptibility to, 3", "MONDO:0011983": "autoimmune thyroid disease, susceptibility to, 4", "MONDO:0011987": "cone-rod dystrophy 13", "MONDO:0011990": "BFNS3", "MONDO:0011991": "autosomal recessive nonsyndromic deafness 38", "MONDO:0011993": "aspirin resistance", "MONDO:0011994": "autosomal dominant nonsyndromic deafness 41", "MONDO:0011999": "OTSC3", "MONDO:0012000": "specific phobia", "MONDO:0012001": "mandibulofacial dysostosis with ptosis, autosomal dominant", "MONDO:0012002": "autosomal recessive nonsyndromic deafness 40", "MONDO:0012003": "autosomal recessive nonsyndromic deafness 39", "MONDO:0012005": "growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy", "MONDO:0012006": "craniosynostosis with ocular abnormalities and hallucal defects", "MONDO:0012007": "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities", "MONDO:0012009": "coronary heart disease, susceptibility to, 2", "MONDO:0012010": "coronary heart disease, susceptibility to, 4", "MONDO:0012011": "coronary artery disease, autosomal dominant, 1", "MONDO:0012015": "NYS3", "MONDO:0012021": "MYP17", "MONDO:0012022": "OFC4", "MONDO:0012023": "autosomal dominant nonsyndromic deafness 49", "MONDO:0012024": "retinitis pigmentosa 26", "MONDO:0012025": "branchiootic syndrome 3", "MONDO:0012027": "AIS2", "MONDO:0012028": "AIS3", "MONDO:0012029": "microcephaly 6, primary, autosomal recessive", "MONDO:0012030": "autosomal dominant nonsyndromic deafness 43", "MONDO:0012031": "platelet-type bleeding disorder 10", "MONDO:0012036": "SLEB4", "MONDO:0012037": "intellectual disability, autosomal recessive 3", "MONDO:0012038": "speech-sound disorder", "MONDO:0012039": "myocardial infarction, susceptibility to", "MONDO:0012040": "inflammatory bowel disease 9", "MONDO:0012042": "Hirschsprung disease, susceptibility to, 8", "MONDO:0012044": "corneal dystrophy, lattice type 3A", "MONDO:0012045": "MYP5", "MONDO:0012046": "congenital corneal opacities, cornea guttata, and corectopia", "MONDO:0012047": "alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia", "MONDO:0012050": "major depressive disorder 1", "MONDO:0012051": "periodontitis, aggressive, 2", "MONDO:0012053": "ANIB2", "MONDO:0012054": "schizophrenia 12", "MONDO:0012056": "Leber congenital amaurosis 9", "MONDO:0012057": "legionnaire disease, susceptibility to", "MONDO:0012058": "myocardial infarction, susceptibility to, 2", "MONDO:0012059": "polydactyly, postaxial, type A4", "MONDO:0012060": "autosomal recessive nonsyndromic deafness 35", "MONDO:0012062": "dilated cardiomyopathy 1O", "MONDO:0012066": "ATFB1", "MONDO:0012067": "asthma-related traits, susceptibility to, 2", "MONDO:0012068": "brachial palsy, familial congenital", "MONDO:0012069": "KTCN3", "MONDO:0012071": "congenital generalized lipodystrophy type 1", "MONDO:0012076": "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia", "MONDO:0012077": "amyotrophic lateral sclerosis type 8", "MONDO:0012078": "Joubert syndrome 3", "MONDO:0012079": "ASPG2", "MONDO:0012080": "neuronopathy, distal hereditary motor, type 2B", "MONDO:0012082": "ASPG1", "MONDO:0012083": "autosomal dominant nonsyndromic deafness 28", "MONDO:0012085": "primary ciliary dyskinesia 3", "MONDO:0012086": "autosomal dominant nonsyndromic deafness 31", "MONDO:0012087": "primary ciliary dyskinesia 4", "MONDO:0012088": "primary ciliary dyskinesia 5", "MONDO:0012090": "autosomal dominant nonsyndromic deafness 47", "MONDO:0012091": "autosomal recessive nonsyndromic deafness 32", "MONDO:0012093": "prostate cancer, hereditary, 3", "MONDO:0012094": "prostate cancer, hereditary, 4", "MONDO:0012097": "spondylocostal dysostosis 2, autosomal recessive", "MONDO:0012100": "major depressive disorder 2", "MONDO:0012101": "GLC1J", "MONDO:0012102": "GLC1K", "MONDO:0012106": "microcephaly 5, primary, autosomal recessive", "MONDO:0012107": "neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia", "MONDO:0012109": "hypertension, essential, susceptibility to, 4", "MONDO:0012111": "hypertrophic cardiomyopathy 8", "MONDO:0012112": "hypertrophic cardiomyopathy 10", "MONDO:0012113": "EIG3", "MONDO:0012114": "Ehlers-Danlos syndrome, Beasley-Cohen type", "MONDO:0012115": "scoliosis, isolated, susceptibility to, 3", "MONDO:0012119": "ASPG3", "MONDO:0012121": "OTSC5", "MONDO:0012122": "MYMY3", "MONDO:0012128": "dextro-looped transposition of the great arteries 1", "MONDO:0012129": "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema", "MONDO:0012132": "colorectal cancer, susceptibility to, 1", "MONDO:0012133": "lateral semicircular canal malformation, familial, with external and middle ear abnormalities", "MONDO:0012134": "EJM3", "MONDO:0012135": "restless legs syndrome, susceptibility to, 2", "MONDO:0012139": "macular dystrophy, retinal, 3", "MONDO:0012140": "obsolete pulmonary function", "MONDO:0012141": "orofacial cleft 6, susceptibility to", "MONDO:0012142": "orofacial cleft 5", "MONDO:0012145": "macular degeneration, age-related, 3", "MONDO:0012146": "familial hemophagocytic lymphohistiocytosis 3", "MONDO:0012147": "coronary heart disease, susceptibility to, 5", "MONDO:0012148": "drug metabolism, poor, CYP2D6-related", "MONDO:0012149": "attention deficit-hyperactivity disorder, susceptibility to, 1", "MONDO:0012150": "attention deficit-hyperactivity disorder, susceptibility to, 2", "MONDO:0012151": "attention deficit-hyperactivity disorder, susceptibility to, 3", "MONDO:0012152": "attention deficit-hyperactivity disorder, susceptibility to, 4", "MONDO:0012153": "Alzheimer disease 9", "MONDO:0012154": "myopia 6", "MONDO:0012156": "myasthenic syndrome, congenital, 1B, fast-channel", "MONDO:0012157": "congenital myasthenic syndrome 4C", "MONDO:0012158": "KTCN2", "MONDO:0012159": "LNCR1", "MONDO:0012162": "patterned macular dystrophy 2", "MONDO:0012163": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive", "MONDO:0012166": "autosomal dominant sensory ataxia 1", "MONDO:0012167": "ATFB2", "MONDO:0012168": "dyslexia, susceptibility to, 8", "MONDO:0012169": "premature ovarian failure 3", "MONDO:0012170": "autosomal recessive nonsyndromic deafness 36", "MONDO:0012171": "marfanoid habitus with situs inversus", "MONDO:0012174": "peripheral cone dystrophy", "MONDO:0012175": "cataract 28", "MONDO:0012178": "intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature", "MONDO:0012179": "narcolepsy 3", "MONDO:0012180": "arrhythmogenic right ventricular dysplasia 9", "MONDO:0012182": "skeletal dysplasia, rhizomelic, with retinitis pigmentosa", "MONDO:0012183": "melanoma, cutaneous malignant, susceptibility to, 3", "MONDO:0012186": "Fanconi anemia complementation group i", "MONDO:0012187": "Fanconi anemia complementation group j", "MONDO:0012194": "ANIB3", "MONDO:0012196": "autosomal dominant auditory neuropathy 1", "MONDO:0012199": "posterior polymorphous corneal dystrophy 2", "MONDO:0012200": "posterior polymorphous corneal dystrophy 3", "MONDO:0012202": "malaria, mild, susceptibility to", "MONDO:0012205": "autosomal dominant striatal neurodegeneration type 1", "MONDO:0012207": "umbilicus, familial flat", "MONDO:0012210": "migraine with aura, susceptibility to, 7", "MONDO:0012214": "GCCD3", "MONDO:0012217": "Bruck syndrome 2", "MONDO:0012218": "ADDWOC", "MONDO:0012219": "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type", "MONDO:0012223": "hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate", "MONDO:0012224": "FEB6", "MONDO:0012225": "Senior-Loken syndrome 5", "MONDO:0012226": "FEB5", "MONDO:0012227": "MYP7", "MONDO:0012228": "MYP8", "MONDO:0012229": "MYP9", "MONDO:0012230": "MYP10", "MONDO:0012232": "stuttering, familial persistent, 2", "MONDO:0012233": "Li-Fraumeni syndrome 2", "MONDO:0012236": "KTCN4", "MONDO:0012237": "nemaline myopathy 6", "MONDO:0012238": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "MONDO:0012239": "nemaline myopathy 1", "MONDO:0012240": "nemaline myopathy 4", "MONDO:0012241": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3", "MONDO:0012242": "VVS", "MONDO:0012244": "prostate cancer, hereditary, 5", "MONDO:0012245": "epileptic encephalopathy, early infantile, 3", "MONDO:0012249": "colorectal cancer, hereditary nonpolyposis, type 2", "MONDO:0012252": "rhabdoid tumor predisposition syndrome 1", "MONDO:0012255": "chromosome 18 pericentric inversion", "MONDO:0012259": "colloid cysts of third ventricle", "MONDO:0012260": "cataract 35", "MONDO:0012261": "AUTS6", "MONDO:0012262": "CFEOM3C", "MONDO:0012263": "AIS4", "MONDO:0012264": "PEE2", "MONDO:0012265": "PEE3", "MONDO:0012266": "preeclampsia/eclampsia 4", "MONDO:0012267": "holoprosencephaly 8", "MONDO:0012270": "Tukel syndrome", "MONDO:0012272": "intellectual disability, keratoconus, febrile seizures, and sinoatrial block", "MONDO:0012273": "autosomal recessive nonsyndromic deafness 48", "MONDO:0012274": "acromesomelic dysplasia, Demirhan type", "MONDO:0012278": "PSNP2", "MONDO:0012283": "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss", "MONDO:0012284": "nephropathy, progressive, with deafness", "MONDO:0012285": "LVNC2", "MONDO:0012286": "myopathy, autophagic vacuolar, infantile-onset", "MONDO:0012287": "Stickler syndrome, type I, nonsyndromic ocular", "MONDO:0012288": "iridogoniodysgenesis and skeletal anomalies", "MONDO:0012291": "immunoglobulin A deficiency 2", "MONDO:0012292": "hepatitis c virus, susceptibility to", "MONDO:0012293": "autosomal recessive nonsyndromic deafness 23", "MONDO:0012294": "drug metabolism, poor, Cyp2C19-related", "MONDO:0012295": "complement component 5 deficiency", "MONDO:0012298": "omphalocele, diaphragmatic hernia, and radial ray defects", "MONDO:0012299": "nanophthalmos 2", "MONDO:0012300": "prostate cancer, hereditary, 6", "MONDO:0012302": "PFM3", "MONDO:0012303": "migraine with or without aura, susceptibility to, 8", "MONDO:0012304": "PPR2", "MONDO:0012305": "PPR3", "MONDO:0012306": "cardiomyopathy, familial restrictive, 2", "MONDO:0012309": "parietal foramina 2", "MONDO:0012310": "fibrosis of extraocular muscles, congenital, with synergistic divergence", "MONDO:0012311": "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness", "MONDO:0012312": "short QT syndrome type 1", "MONDO:0012313": "short QT syndrome type 2", "MONDO:0012314": "short QT syndrome type 3", "MONDO:0012317": "visceral neuropathy, familial, autosomal dominant", "MONDO:0012318": "leukemia, chronic lymphocytic, susceptibility to, 1", "MONDO:0012319": "major affective disorder 3", "MONDO:0012320": "migraine, familial hemiplegic, 3", "MONDO:0012321": "Alzheimer disease 10", "MONDO:0012322": "holoprosencephaly 5", "MONDO:0012325": "Nguyen syndrome", "MONDO:0012326": "autosomal recessive nonsyndromic deafness 42", "MONDO:0012327": "autosomal recessive nonsyndromic deafness 46", "MONDO:0012328": "trichilemmal cyst", "MONDO:0012329": "short stature and Facioauriculothoracic malformations", "MONDO:0012331": "migraine with aura, susceptibility to, 9", "MONDO:0012333": "autosomal recessive nonsyndromic deafness 53", "MONDO:0012336": "cataract 22 multiple types", "MONDO:0012337": "GLC1I", "MONDO:0012338": "EIG4", "MONDO:0012339": "celiac disease, susceptibility to, 4", "MONDO:0012340": "CELIAC2", "MONDO:0012341": "celiac disease, susceptibility to, 3", "MONDO:0012343": "AAA2", "MONDO:0012344": "Alzheimer disease 11", "MONDO:0012346": "GEFSP4", "MONDO:0012347": "hamartoma, Precalcaneal congenital fibrolipomatous", "MONDO:0012348": "maturity-onset diabetes of the young type 8", "MONDO:0012349": "spondylocostal dysostosis 3, autosomal recessive", "MONDO:0012350": "complement factor H deficiency", "MONDO:0012352": "vasculitis, lymphocytic, cutaneous small vessel", "MONDO:0012353": "erythrocytosis, familial, 3", "MONDO:0012355": "autosomal recessive nonsyndromic deafness 28", "MONDO:0012357": "glaucoma 1, open angle, G", "MONDO:0012358": "LPRS1", "MONDO:0012360": "congenital nongoitrous hypothryoidism 3", "MONDO:0012361": "SLEB5", "MONDO:0012362": "dilated cardiomyopathy 1P", "MONDO:0012363": "retinitis pigmentosa 32", "MONDO:0012364": "dilated cardiomyopathy 1Q", "MONDO:0012365": "GBD2", "MONDO:0012366": "GBD3", "MONDO:0012367": "retinitis pigmentosa 31", "MONDO:0012369": "SLEB6", "MONDO:0012370": "autosomal recessive nonsyndromic deafness 51", "MONDO:0012371": "Noonan syndrome 3", "MONDO:0012373": "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features", "MONDO:0012374": "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia", "MONDO:0012375": "autosomal recessive nonsyndromic deafness 47", "MONDO:0012376": "autosomal recessive nonsyndromic deafness 55", "MONDO:0012377": "ASPG4", "MONDO:0012378": "GINGF3", "MONDO:0012379": "asthma-related traits, susceptibility to, 3", "MONDO:0012380": "autosomal dominant nonsyndromic deafness 53", "MONDO:0012384": "panic disorder 3", "MONDO:0012385": "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and Normal hands", "MONDO:0012386": "trichoscyphodysplasia", "MONDO:0012388": "MYP11", "MONDO:0012389": "MYP12", "MONDO:0012390": "arthrogryposis multiplex with deafness, inguinal hernias, and early death", "MONDO:0012394": "multiple synostoses syndrome 2", "MONDO:0012395": "cataract 18", "MONDO:0012397": "brachydactyly, coloboma, and anterior segment dysgenesis", "MONDO:0012398": "retinal cone dystrophy 3A", "MONDO:0012402": "opioid dependence, susceptibility to, 1", "MONDO:0012403": "SLEB7", "MONDO:0012404": "SLEB8", "MONDO:0012405": "polyposis syndrome, hereditary mixed, 2", "MONDO:0012406": "HRPT3", "MONDO:0012408": "microphthalmia, isolated, with coloboma 3", "MONDO:0012409": "isolated microphthalmia 2", "MONDO:0012412": "complement component 7 deficiency", "MONDO:0012415": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4", "MONDO:0012416": "Devriendt syndrome", "MONDO:0012418": "autosomal recessive nonsyndromic deafness 62", "MONDO:0012419": "age related macular degeneration 7", "MONDO:0012420": "autosomal recessive nonsyndromic deafness 49", "MONDO:0012421": "autosomal recessive nonsyndromic deafness 44", "MONDO:0012422": "type 1 diabetes mellitus 19", "MONDO:0012424": "heat-shock RNA 1", "MONDO:0012425": "FECD2", "MONDO:0012426": "immunodeficiency 25", "MONDO:0012427": "Loeys-Dietz syndrome 2", "MONDO:0012428": "KYPSC1", "MONDO:0012429": "Aicardi-Goutieres syndrome 2", "MONDO:0012430": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2", "MONDO:0012431": "diaphragmatic hernia 3", "MONDO:0012432": "Joubert syndrome 5", "MONDO:0012433": "Senior-Loken syndrome 6", "MONDO:0012434": "arrhythmogenic right ventricular dysplasia 10", "MONDO:0012437": "cataract 21 multiple types", "MONDO:0012440": "migraine with or without aura, susceptibility to, 10", "MONDO:0012441": "migraine with or without aura, susceptibility to, 11", "MONDO:0012442": "autosomal recessive nonsyndromic deafness 66", "MONDO:0012443": "ANIB4", "MONDO:0012444": "neurodegeneration with brain iron accumulation 2B", "MONDO:0012445": "autosomal recessive nonsyndromic deafness 59", "MONDO:0012448": "hereditary spastic paraplegia 33", "MONDO:0012451": "EOE1", "MONDO:0012452": "autosomal recessive nonsyndromic deafness 65", "MONDO:0012454": "alcohol sensitivity, acute", "MONDO:0012457": "IHPS2", "MONDO:0012458": "hypertension, essential, susceptibility to, 5", "MONDO:0012459": "hypertension, essential, susceptibility to, 6", "MONDO:0012460": "autosomal recessive nonsyndromic deafness 67", "MONDO:0012461": "obsolete bulimia nervosa, susceptibility to, 2", "MONDO:0012463": "retinitis pigmentosa 35", "MONDO:0012464": "cone-rod dystrophy 10", "MONDO:0012466": "Parkinson disease 13, autosomal dominant, susceptibility to", "MONDO:0012467": "cold-induced sweating syndrome 2", "MONDO:0012468": "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa", "MONDO:0012469": "MYP14", "MONDO:0012470": "HPC7", "MONDO:0012471": "Aicardi-Goutieres syndrome 3", "MONDO:0012472": "Aicardi-Goutieres syndrome 4", "MONDO:0012473": "right pulmonary artery, anomalous origin of, familial", "MONDO:0012474": "autosomal dominant nocturnal frontal lobe epilepsy 4", "MONDO:0012477": "retinitis pigmentosa 33", "MONDO:0012478": "OFC9", "MONDO:0012480": "diabetes mellitus, transient neonatal, 2", "MONDO:0012482": "West Nile virus, susceptibility to", "MONDO:0012483": "cone-rod dystrophy 11", "MONDO:0012484": "prosopagnosia, hereditary", "MONDO:0012485": "autosomal recessive nonsyndromic deafness 68", "MONDO:0012486": "preauricular tag, isolated, autosomal dominant, 1", "MONDO:0012487": "alopecia-intellectual disability syndrome 2", "MONDO:0012488": "hepatitis B virus, susceptibility to", "MONDO:0012489": "cataract 23", "MONDO:0012490": "cone-rod synaptic disorder, congenital nonprogressive", "MONDO:0012491": "WM2", "MONDO:0012492": "restless legs syndrome, susceptibility to, 3", "MONDO:0012493": "restless legs syndrome, susceptibility to, 4", "MONDO:0012494": "testicular microlithiasis (disease)", "MONDO:0012497": "congenital stationary night blindness autosomal dominant 3", "MONDO:0012498": "congenital stationary night blindness autosomal dominant 1", "MONDO:0012499": "Buruli ulcer, susceptibility to", "MONDO:0012500": "chilblain lupus 1", "MONDO:0012501": "mutagen sensitivity", "MONDO:0012505": "pigmented nodular adrenocortical disease, primary, 2", "MONDO:0012506": "arrhythmogenic right ventricular dysplasia 11", "MONDO:0012507": "retinal cone dystrophy 4", "MONDO:0012509": "pigmented nodular adrenocortical disease, primary, 1", "MONDO:0012511": "preterm premature rupture of the membranes", "MONDO:0012513": "maturity-onset diabetes of the young type 7", "MONDO:0012515": "GLC1M", "MONDO:0012518": "congenital myasthenic syndrome 12", "MONDO:0012522": "diabetes mellitus, transient neonatal, 3", "MONDO:0012523": "retinitis pigmentosa 36", "MONDO:0012524": "corticosterone methyloxidase type 2 deficiency", "MONDO:0012525": "Leber congenital amaurosis 12", "MONDO:0012527": "cataract 11 multiple types", "MONDO:0012528": "hypogonadotropic hypogonadism 4 with or without anosmia", "MONDO:0012529": "Diamond-Blackfan anemia 3", "MONDO:0012532": "hereditary hemorrhagic telangiectasia type 4", "MONDO:0012533": "AUTS7", "MONDO:0012535": "holoprosencephaly, recurrent infections, and monocytosis", "MONDO:0012536": "osteogenesis imperfecta type 7", "MONDO:0012537": "SHFLD2", "MONDO:0012538": "nemaline myopathy 7", "MONDO:0012539": "Joubert syndrome 6", "MONDO:0012540": "age related macular degeneration 4", "MONDO:0012542": "PSORS8", "MONDO:0012543": "optic atrophy 5", "MONDO:0012546": "nephrotic syndrome, type 3", "MONDO:0012547": "Noonan syndrome 4", "MONDO:0012550": "iris pattern", "MONDO:0012551": "AA2", "MONDO:0012553": "cerebrooculofacioskeletal syndrome 2", "MONDO:0012554": "cerebrooculofacioskeletal syndrome 4", "MONDO:0012555": "Cornelia de Lange syndrome 3", "MONDO:0012558": "epiphyseal dysplasia, Baumann type", "MONDO:0012560": "obsolete invasive pneumococcal disease, recurrent isolated, 1", "MONDO:0012561": "congenital anomalies of kidney and urinary tract 1, susceptibility to", "MONDO:0012562": "holoprosencephaly 7", "MONDO:0012563": "holoprosencephaly 9", "MONDO:0012564": "Polyosteolysis-hyperostosis syndrome", "MONDO:0012565": "Fanconi anemia complementation group N", "MONDO:0012566": "AUTS11", "MONDO:0012567": "AUTS12", "MONDO:0012568": "OS4", "MONDO:0012569": "MMVP3", "MONDO:0012571": "primary ciliary dyskinesia 6", "MONDO:0012572": "Sakoda complex", "MONDO:0012573": "vesicoureteral reflux 2", "MONDO:0012575": "branchiootorenal syndrome 2", "MONDO:0012576": "PSNP3", "MONDO:0012577": "asthma-related traits, susceptibility to, 4", "MONDO:0012578": "AUTS13", "MONDO:0012581": "osteogenesis imperfecta type 8", "MONDO:0012583": "STHAG5", "MONDO:0012584": "systemic lupus erythematosus, susceptibility to, 9", "MONDO:0012585": "coronary heart disease, susceptibility to, 7", "MONDO:0012586": "coronary artery disease, autosomal dominant 2", "MONDO:0012587": "hypertension, essential, susceptibility to, 7", "MONDO:0012590": "XFE progeroid syndrome", "MONDO:0012592": "osteogenesis imperfecta type 11", "MONDO:0012595": "leprosy, susceptibility to, 4", "MONDO:0012597": "prostate cancer, hereditary, 9", "MONDO:0012598": "GINGF4", "MONDO:0012599": "HYT8", "MONDO:0012600": "AUTS9", "MONDO:0012601": "AUTS10", "MONDO:0012602": "autosomal recessive nonsyndromic deafness 24", "MONDO:0012603": "episodic kinesigenic dyskinesia 2", "MONDO:0012604": "isolated microphthalmia 3", "MONDO:0012606": "Mycobacterium tuberculosis, susceptibility to, 2", "MONDO:0012607": "asthma-related traits, susceptibility to, 5", "MONDO:0012609": "Alzheimer disease 12", "MONDO:0012610": "inflammatory bowel disease 10", "MONDO:0012612": "intellectual disability, autosomal recessive 12", "MONDO:0012613": "intellectual disability, autosomal recessive 5", "MONDO:0012614": "intellectual disability, autosomal recessive 6", "MONDO:0012615": "intellectual disability, autosomal recessive 7", "MONDO:0012617": "MRT9", "MONDO:0012618": "MRT10", "MONDO:0012619": "MRT11", "MONDO:0012620": "HPC10", "MONDO:0012623": "MRT4", "MONDO:0012625": "retinitis pigmentosa 37", "MONDO:0012626": "Meckel syndrome, type 4", "MONDO:0012627": "epilepsy, idiopathic generalized, susceptibility to, 13", "MONDO:0012628": "CHDS8", "MONDO:0012629": "paroxysmal nonkinesigenic dyskinesia 2", "MONDO:0012630": "Alzheimer disease 13", "MONDO:0012631": "Alzheimer disease 14", "MONDO:0012636": "restless legs syndrome, susceptibility to, 6", "MONDO:0012641": "restless legs syndrome, susceptibility to, 5", "MONDO:0012642": "major affective disorder 4", "MONDO:0012644": "asphyxiating thoracic dystrophy 2", "MONDO:0012645": "GLC1N", "MONDO:0012646": "GLC1H", "MONDO:0012653": "PHPVAD", "MONDO:0012654": "atrial heart septal defect 4", "MONDO:0012655": "EJM4", "MONDO:0012657": "MGS", "MONDO:0012659": "age related macular degeneration 9", "MONDO:0012660": "susceptibility to visceral leishmaniasis, 2", "MONDO:0012661": "susceptibility to visceral leishmaniasis, 3", "MONDO:0012662": "Usher syndrome type 2D", "MONDO:0012663": "Plasmodium falciparum fever episodes quantitative trait locus 1", "MONDO:0012666": "asthma-related traits, susceptibility to, 6", "MONDO:0012667": "dilated cardiomyopathy 1W", "MONDO:0012668": "Tented eyebrows", "MONDO:0012670": "autosomal recessive nonsyndromic deafness 63", "MONDO:0012671": "ETM3", "MONDO:0012672": "cholelithiasis", "MONDO:0012673": "CRCS2", "MONDO:0012674": "age related macular degeneration 10", "MONDO:0012676": "autosomal recessive osteopetrosis 4", "MONDO:0012677": "atrial fibrillation, familial, 4", "MONDO:0012678": "ATFB5", "MONDO:0012680": "nephronophthisis 7", "MONDO:0012681": "FEB7", "MONDO:0012684": "arrhythmogenic right ventricular dysplasia 12", "MONDO:0012685": "major affective disorder 5", "MONDO:0012686": "major affective disorder 6", "MONDO:0012688": "cataract 17 multiple types", "MONDO:0012689": "premature ovarian failure 5", "MONDO:0012690": "Noonan syndrome 5", "MONDO:0012691": "LEOPARD syndrome 2", "MONDO:0012692": "renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies", "MONDO:0012694": "Joubert syndrome 7", "MONDO:0012695": "Meckel syndrome, type 5", "MONDO:0012696": "OTSC4", "MONDO:0012697": "OTSC7", "MONDO:0012698": "Waardenburg syndrome type 2E", "MONDO:0012701": "cataract 12 multiple types", "MONDO:0012702": "CELIAC6", "MONDO:0012704": "dilated cardiomyopathy 1X", "MONDO:0012705": "familial temporal lobe epilepsy 3", "MONDO:0012706": "familial temporal lobe epilepsy 4", "MONDO:0012707": "FEB9", "MONDO:0012708": "PLSA1", "MONDO:0012709": "microphthalmia, isolated, with coloboma 5", "MONDO:0012710": "Hirschsprung disease, susceptibility to, 9", "MONDO:0012711": "peripapillary atrophy, beta type", "MONDO:0012712": "DYTCA", "MONDO:0012713": "spondylometaphyseal dysplasia, East African type", "MONDO:0012715": "MGR12", "MONDO:0012717": "renal hypomagnesemia 4", "MONDO:0012720": "Krabbe disease, atypical, due to saposin A deficiency", "MONDO:0012722": "Dauwerse-Peters syndrome", "MONDO:0012723": "Leber congenital amaurosis 10", "MONDO:0012728": "Brugada syndrome 2", "MONDO:0012729": "erythrocytosis, familial, 4", "MONDO:0012730": "aortic aneurysm, familial thoracic 6", "MONDO:0012731": "elliptocytosis 1", "MONDO:0012732": "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus", "MONDO:0012736": "long QT syndrome 9", "MONDO:0012737": "long QT syndrome 10", "MONDO:0012738": "long QT syndrome 11", "MONDO:0012741": "prostate cancer, hereditary, 12", "MONDO:0012742": "Brugada syndrome 3", "MONDO:0012743": "Brugada syndrome 4", "MONDO:0012744": "dilated cardiomyopathy 1Y", "MONDO:0012745": "dilated cardiomyopathy 1Z", "MONDO:0012746": "dilated cardiomyopathy 2A", "MONDO:0012748": "primary ciliary dyskinesia 7", "MONDO:0012749": "mesomelic dysplasia, camera type", "MONDO:0012751": "AAA3", "MONDO:0012752": "ANIB6", "MONDO:0012753": "amyotrophic lateral sclerosis type 9", "MONDO:0012754": "NNO3", "MONDO:0012758": "prostate cancer, hereditary, 13", "MONDO:0012760": "EIG5", "MONDO:0012762": "catecholaminergic polymorphic ventricular tachycardia 2", "MONDO:0012763": "epilepsy, childhood absence, susceptibility to, 6", "MONDO:0012765": "LMPH1B", "MONDO:0012767": "age related macular degeneration 11", "MONDO:0012768": "HPC11", "MONDO:0012769": "HPC14", "MONDO:0012770": "HPC15", "MONDO:0012771": "asthma-related traits, susceptibility to, 7", "MONDO:0012772": "Stevenson-Carey syndrome", "MONDO:0012773": "Hunter-Macdonald syndrome", "MONDO:0012775": "thrombocytopenia 4", "MONDO:0012776": "CELIAC7", "MONDO:0012777": "CELIAC8", "MONDO:0012778": "CELIAC9", "MONDO:0012779": "CELIAC10", "MONDO:0012780": "CELIAC11", "MONDO:0012781": "CELIAC12", "MONDO:0012782": "CELIAC13", "MONDO:0012785": "infantile hypertrophic pyloric stenosis type 3", "MONDO:0012788": "CHDS9", "MONDO:0012790": "amyotrophic lateral sclerosis type 10", "MONDO:0012793": "hypouricemia, renal, 2", "MONDO:0012795": "hypophosphatemic rickets and hyperparathyroidism", "MONDO:0012796": "retinitis pigmentosa 41", "MONDO:0012797": "OTSC8", "MONDO:0012798": "deafness, unilateral, with delayed endolymphatic hydrops", "MONDO:0012799": "hypertrophic cardiomyopathy 11", "MONDO:0012800": "trichoepithelioma, multiple familial, 2", "MONDO:0012801": "autism, susceptibility to, 15", "MONDO:0012804": "hypertrophic cardiomyopathy 12", "MONDO:0012806": "ectodermal dysplasia and immunodeficiency 2", "MONDO:0012808": "dilated cardiomyopathy 1AA", "MONDO:0012810": "ANIB7", "MONDO:0012811": "ANIB8", "MONDO:0012813": "retinitis pigmentosa 29", "MONDO:0012814": "diastasis recti and weakness of the linea alba", "MONDO:0012816": "atrial fibrillation, familial, 6", "MONDO:0012818": "maturity-onset diabetes of the young type 9", "MONDO:0012820": "colorectal cancer, susceptibility to, 3", "MONDO:0012821": "CRCS5", "MONDO:0012822": "CRCS6", "MONDO:0012823": "CRCS7", "MONDO:0012826": "scoliosis, isolated, susceptibility to, 4", "MONDO:0012827": "scoliosis, isolated, susceptibility to, 5", "MONDO:0012828": "atrial fibrillation, familial, 7", "MONDO:0012829": "inflammatory bowel disease 12", "MONDO:0012831": "inflammatory bowel disease 13", "MONDO:0012832": "inflammatory bowel disease 14", "MONDO:0012834": "systemic lupus erythematosus, susceptibility to, 10", "MONDO:0012835": "systemic lupus erythematosus, susceptibility to, 11", "MONDO:0012836": "SLEB12", "MONDO:0012837": "inflammatory bowel disease 15", "MONDO:0012838": "inflammatory bowel disease 16", "MONDO:0012840": "inflammatory bowel disease 17", "MONDO:0012841": "inflammatory bowel disease 18", "MONDO:0012842": "CMM7", "MONDO:0012843": "epilepsy, childhood absence, susceptibility to, 5", "MONDO:0012844": "primary ciliary dyskinesia 8", "MONDO:0012845": "inflammatory bowel disease 19", "MONDO:0012846": "GEFSP6", "MONDO:0012847": "autosomal recessive congenital ichthyosis 6", "MONDO:0012848": "Meckel syndrome, type 6", "MONDO:0012849": "Joubert syndrome 9", "MONDO:0012850": "hypophosphatemic nephrolithiasis/osteoporosis 1", "MONDO:0012851": "hypophosphatemic nephrolithiasis/osteoporosis 2", "MONDO:0012852": "inflammatory bowel disease 20", "MONDO:0012855": "Joubert syndrome 8", "MONDO:0012857": "POROK5", "MONDO:0012860": "thrombophilia due to protein C deficiency, autosomal recessive", "MONDO:0012861": "premature ovarian failure 6", "MONDO:0012862": "attention deficit-hyperactivity disorder, susceptibility to, 5", "MONDO:0012863": "attention deficit-hyperactivity disorder, susceptibility to, 6", "MONDO:0012865": "Pseudofolliculitis barbae", "MONDO:0012869": "intellectual disability, autosomal dominant 22", "MONDO:0012870": "chromosome 2q31.2 deletion syndrome", "MONDO:0012871": "Jervell and Lange-Nielsen syndrome 2", "MONDO:0012872": "THPH9", "MONDO:0012874": "POROK6", "MONDO:0012875": "inflammatory bowel disease 21", "MONDO:0012876": "heparin cofactor 2 deficiency", "MONDO:0012877": "major affective disorder 8", "MONDO:0012879": "schizophrenia 14", "MONDO:0012880": "hypogonadotropic hypogonadism 5 with or without anosmia", "MONDO:0012881": "major affective disorder 7", "MONDO:0012882": "major affective disorder 9", "MONDO:0012884": "SLEB13", "MONDO:0012886": "inflammatory bowel disease 22", "MONDO:0012887": "inflammatory bowel disease 23", "MONDO:0012888": "sarcoidosis, susceptibility to, 2", "MONDO:0012889": "SS3", "MONDO:0012890": "pontocerebellar hypoplasia type 2B", "MONDO:0012891": "pontocerebellar hypoplasia type 2C", "MONDO:0012893": "osteoarthritis susceptibility 5", "MONDO:0012894": "OS6", "MONDO:0012896": "PSORS10", "MONDO:0012898": "narcolepsy 4, susceptibility to", "MONDO:0012899": "AGA3", "MONDO:0012900": "cardiomyopathy, familial restrictive, 3", "MONDO:0012902": "autosomal dominant nonsyndromic deafness 27", "MONDO:0012903": "autosomal recessive nonsyndromic deafness 45", "MONDO:0012904": "epilepsy, progressive myoclonic, 1B", "MONDO:0012906": "primary ciliary dyskinesia 9", "MONDO:0012908": "complement component 6 deficiency", "MONDO:0012909": "skeletal defects, genital hypoplasia, and mental retardation", "MONDO:0012910": "age-related hearing impairment 1", "MONDO:0012913": "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome", "MONDO:0012917": "specific language impairment 4", "MONDO:0012918": "primary ciliary dyskinesia 10", "MONDO:0012919": "type 1 diabetes mellitus 20", "MONDO:0012920": "type 1 diabetes mellitus 21", "MONDO:0012921": "type 1 diabetes mellitus 22", "MONDO:0012922": "infantile hypertrophic pyloric stenosis type 5", "MONDO:0012923": "congenital generalized lipodystrophy type 3", "MONDO:0012924": "Diamond-Blackfan anemia 4", "MONDO:0012925": "Diamond-Blackfan anemia 5", "MONDO:0012926": "amelogenesis imperfecta hypomaturation type 2A2", "MONDO:0012931": "focal segmental glomerulosclerosis 4, susceptibility to", "MONDO:0012932": "MYP16", "MONDO:0012933": "breast-ovarian cancer, familial, susceptibility to, 2", "MONDO:0012934": "leukemia, chronic lymphocytic, susceptibility to, 3", "MONDO:0012935": "leukemia, chronic lymphocytic, susceptibility to, 4", "MONDO:0012936": "leukemia, chronic lymphocytic, susceptibility to, 5", "MONDO:0012937": "Diamond-Blackfan anemia 6", "MONDO:0012938": "Diamond-Blackfan anemia 7", "MONDO:0012939": "Diamond-Blackfan anemia 8", "MONDO:0012940": "inflammatory bowel disease 24", "MONDO:0012941": "inflammatory bowel disease 25", "MONDO:0012942": "LNCR3", "MONDO:0012943": "retinitis pigmentosa 46", "MONDO:0012944": "chromosome 17P13.3, telomeric, duplication syndrome", "MONDO:0012945": "amyotrophic lateral sclerosis type 11", "MONDO:0012946": "intellectual disability, autosomal dominant 3", "MONDO:0012947": "intellectual disability, autosomal dominant 4", "MONDO:0012949": "ANIB9", "MONDO:0012950": "ANIB10", "MONDO:0012951": "CRCS8", "MONDO:0012952": "CRCS9", "MONDO:0012953": "colorectal cancer, susceptibility to, 10", "MONDO:0012954": "colorectal cancer, susceptibility to, 11", "MONDO:0012955": "lung cancer susceptibility 4", "MONDO:0012956": "multiple sclerosis, susceptibility to, 2", "MONDO:0012957": "multiple sclerosis, susceptibility to, 3", "MONDO:0012958": "multiple sclerosis, susceptibility to, 4", "MONDO:0012959": "PSORS11", "MONDO:0012961": "type 1 diabetes mellitus 23", "MONDO:0012962": "microvascular complications of diabetes, susceptibility to, 2", "MONDO:0012963": "microvascular complications of diabetes, susceptibility to, 3", "MONDO:0012965": "BFIS4", "MONDO:0012966": "microvascular complications of diabetes, susceptibility to, 4", "MONDO:0012968": "Usher syndrome type 1H", "MONDO:0012969": "microvascular complications of diabetes, susceptibility to, 5", "MONDO:0012970": "microvascular complications of diabetes, susceptibility to, 6", "MONDO:0012971": "microvascular complications of diabetes, susceptibility to, 7", "MONDO:0012972": "FEB10", "MONDO:0012973": "inflammatory bowel disease 26", "MONDO:0012974": "autosomal dominant nonsyndromic deafness 59", "MONDO:0012975": "autosomal dominant nonsyndromic deafness 3B", "MONDO:0012976": "autosomal dominant nonsyndromic deafness 2B", "MONDO:0012977": "autosomal recessive nonsyndromic deafness 1B", "MONDO:0012978": "primary ciliary dyskinesia 11", "MONDO:0012979": "primary ciliary dyskinesia 12", "MONDO:0012981": "hereditary spherocytosis type 4", "MONDO:0012983": "cone-rod dystrophy 12", "MONDO:0012985": "hereditary spherocytosis type 5", "MONDO:0012987": "agammaglobulinemia 6, autosomal recessive", "MONDO:0012988": "hypogonadotropic hypogonadism 6 with or without anosmia", "MONDO:0012989": "microcephaly 7, primary, autosomal recessive", "MONDO:0012990": "Leber congenital amaurosis 13", "MONDO:0012993": "dyschromatosis universalis hereditaria 2", "MONDO:0012995": "MYP15", "MONDO:0012998": "faciocardiomelic syndrome", "MONDO:0013001": "synesthesia", "MONDO:0013002": "cone-rod dystrophy 9", "MONDO:0013004": "hypotonia, seizures, and precocious puberty", "MONDO:0013009": "Megarbane-Jalkh syndrome", "MONDO:0013010": "autosomal recessive nonsyndromic deafness 71", "MONDO:0013011": "atrial heart septal defect 5", "MONDO:0013012": "inflammatory bowel disease 27", "MONDO:0013013": "question mark ears, isolated", "MONDO:0013015": "Brugada syndrome 5", "MONDO:0013017": "hypotrichosis 5", "MONDO:0013018": "keratosis follicularis spinulosa decalvans, autosomal dominant", "MONDO:0013020": "narcolepsy 5, susceptibility to", "MONDO:0013022": "restless legs syndrome, susceptibility to, 7", "MONDO:0013023": "orofacial cleft 12", "MONDO:0013029": "cerebellar ataxia type 9", "MONDO:0013030": "dilated cardiomyopathy 1BB", "MONDO:0013031": "chromosome 5Q14.3 deletion syndrome, distal", "MONDO:0013032": "epilepsy, idiopathic generalized, susceptibility to, 8", "MONDO:0013033": "cerebral palsy, spastic quadriplegic, 2", "MONDO:0013034": "keratosis palmoplantaris striata 2", "MONDO:0013037": "Giacheti syndrome", "MONDO:0013039": "three M syndrome 2", "MONDO:0013045": "Mycobacterium tuberculosis, susceptibility to, 3", "MONDO:0013048": "hereditary spastic paraplegia 50", "MONDO:0013052": "retinitis pigmentosa 42", "MONDO:0013054": "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance", "MONDO:0013055": "Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features", "MONDO:0013057": "PSORS12", "MONDO:0013059": "Aicardi-Goutieres syndrome 5", "MONDO:0013062": "long QT syndrome 12", "MONDO:0013063": "ventricular fibrillation, paroxysmal familial, 2", "MONDO:0013064": "multiple synostoses syndrome 3", "MONDO:0013065": "premature ovarian failure 7", "MONDO:0013066": "46,XY sex reversal 3", "MONDO:0013067": "cataract 34 multiple types", "MONDO:0013068": "age-related hearing impairment 2", "MONDO:0013070": "spermatogenic failure 7", "MONDO:0013071": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "MONDO:0013072": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "MONDO:0013073": "palmoplantar keratoderma, nonepidermolytic, focal 1", "MONDO:0013076": "attention deficit-hyperactivity disorder, susceptibility to, 7", "MONDO:0013077": "Santos syndrome", "MONDO:0013078": "type 1 diabetes mellitus 24", "MONDO:0013079": "primary biliary cholangitis 2", "MONDO:0013080": "primary biliary cholangitis 3", "MONDO:0013083": "neuroblastoma, susceptibility to, 3", "MONDO:0013084": "NBLST4", "MONDO:0013085": "NBLST5", "MONDO:0013086": "NBLST6", "MONDO:0013087": "bronchiectasis with or without elevated sweat chloride 2", "MONDO:0013088": "FL1", "MONDO:0013089": "SCZD13", "MONDO:0013091": "glycogen storage disease IXc", "MONDO:0013092": "glioma susceptibility 2", "MONDO:0013093": "glioma susceptibility 3", "MONDO:0013094": "glioma susceptibility 5", "MONDO:0013095": "glioma susceptibility 6", "MONDO:0013096": "glioma susceptibility 7", "MONDO:0013097": "glioma susceptibility 8", "MONDO:0013100": "ATFB8", "MONDO:0013101": "BCC2", "MONDO:0013102": "BCC3", "MONDO:0013103": "epilepsy, idiopathic generalized, susceptibility to, 10", "MONDO:0013104": "BCC4", "MONDO:0013105": "BCC5", "MONDO:0013106": "BCC6", "MONDO:0013107": "atopic dermatitis 7", "MONDO:0013108": "leukemia, acute lymphocytic, susceptibility to, 1", "MONDO:0013109": "leukemia, acute lymphocytic, susceptibility to, 2", "MONDO:0013112": "bronchiectasis with or without elevated sweat chloride 3", "MONDO:0013113": "metaphyseal anadysplasia 2", "MONDO:0013114": "autosomal dominant nonsyndromic deafness 50", "MONDO:0013117": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5", "MONDO:0013119": "autosomal recessive nonsyndromic deafness 77", "MONDO:0013120": "46,XY sex reversal 5", "MONDO:0013121": "GLC3C", "MONDO:0013122": "glaucoma 3, primary congenital, d", "MONDO:0013123": "atrial heart septal defect 6", "MONDO:0013124": "pelvic organ prolapse, susceptibility to, 2", "MONDO:0013129": "cone dystrophy 4", "MONDO:0013130": "isolated microphthalmia 4", "MONDO:0013131": "polycystic kidney disease 2", "MONDO:0013133": "melanoma, cutaneous malignant, susceptibility to, 5", "MONDO:0013134": "glaucoma 1, open angle, O", "MONDO:0013135": "familial hemophagocytic lymphohistiocytosis 5", "MONDO:0013137": "choroidal dystrophy, central areolar 2", "MONDO:0013138": "BRV2", "MONDO:0013139": "neutropenia, severe congenital, 2, autosomal dominant", "MONDO:0013140": "candidiasis, familial, 4", "MONDO:0013142": "neuropathy, hereditary sensory and autonomic, type 2B", "MONDO:0013145": "Brugada syndrome 6", "MONDO:0013146": "Brugada syndrome 7", "MONDO:0013147": "dilated cardiomyopathy 1CC", "MONDO:0013148": "Brugada syndrome 8", "MONDO:0013149": "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features", "MONDO:0013151": "CACD3", "MONDO:0013152": "SLEB14", "MONDO:0013153": "inflammatory bowel disease 28", "MONDO:0013154": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "MONDO:0013155": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3", "MONDO:0013156": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B4", "MONDO:0013157": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "MONDO:0013158": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6", "MONDO:0013159": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1", "MONDO:0013160": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2", "MONDO:0013163": "nephronophthisis-like nephropathy 1", "MONDO:0013167": "PARK16", "MONDO:0013168": "dilated cardiomyopathy 1DD", "MONDO:0013173": "intellectual disability, autosomal recessive 13", "MONDO:0013174": "primary ciliary dyskinesia 13", "MONDO:0013175": "retinitis pigmentosa 50", "MONDO:0013180": "asthma-related traits, susceptibility to, 8", "MONDO:0013181": "amelogenesis imperfecta hypomaturation type 2A3", "MONDO:0013183": "congenital stationary night blindness 1C", "MONDO:0013185": "leprosy, susceptibility to, 5", "MONDO:0013186": "Noonan syndrome 6", "MONDO:0013187": "factor XIII, A subunit, deficiency of", "MONDO:0013188": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3", "MONDO:0013189": "trichotillomania", "MONDO:0013190": "factor XIII, b subunit, deficiency of", "MONDO:0013191": "focal segmental glomerulosclerosis 5", "MONDO:0013192": "spondyloarthropathy, susceptibility to, 3", "MONDO:0013193": "thyrotoxic periodic paralysis, susceptibility to, 2", "MONDO:0013194": "Pseudopili annulati", "MONDO:0013195": "hypertrophic cardiomyopathy 13", "MONDO:0013196": "colorectal cancer, hereditary nonpolyposis, type 8", "MONDO:0013197": "hypertrophic cardiomyopathy 14", "MONDO:0013198": "dilated cardiomyopathy 1EE", "MONDO:0013199": "tuberous sclerosis 2", "MONDO:0013200": "hypertrophic cardiomyopathy 15", "MONDO:0013201": "Waardenburg syndrome type 4B", "MONDO:0013202": "Waardenburg syndrome type 4C", "MONDO:0013203": "corneal dystrophy, Fuchs endothelial, 3", "MONDO:0013204": "corneal dystrophy, Fuchs endothelial, 4", "MONDO:0013205": "FECD5", "MONDO:0013206": "corneal dystrophy, Fuchs endothelial, 6", "MONDO:0013207": "FECD7", "MONDO:0013210": "autosomal recessive nonsyndromic deafness 25", "MONDO:0013211": "dilated cardiomyopathy 1FF", "MONDO:0013213": "CIHL", "MONDO:0013215": "autosomal recessive nonsyndromic deafness 79", "MONDO:0013216": "Diamond-Blackfan anemia 9", "MONDO:0013217": "Diamond-Blackfan anemia 10", "MONDO:0013218": "exudative vitreoretinopathy 5", "MONDO:0013219": "hypophosphatemic rickets, autosomal recessive, 2", "MONDO:0013220": "hemochromatosis type 2B", "MONDO:0013221": "Miyoshi muscular dystrophy 2", "MONDO:0013224": "rhabdoid tumor predisposition syndrome 2", "MONDO:0013230": "epilepsy, hot water, 2", "MONDO:0013231": "Leber congenital amaurosis 14", "MONDO:0013234": "hypokalemic periodic paralysis, type 2", "MONDO:0013235": "pancreatic cancer, susceptibility to, 2", "MONDO:0013236": "pancreatic cancer, susceptibility to, 3", "MONDO:0013237": "susceptibility to mononeuropathy of the median nerve, mild", "MONDO:0013240": "maturity-onset diabetes of the young type 10", "MONDO:0013242": "maturity-onset diabetes of the young type 11", "MONDO:0013243": "neuronopathy, distal hereditary motor, type 2C", "MONDO:0013244": "brachydactyly type E2", "MONDO:0013246": "NAFLD2", "MONDO:0013247": "Fanconi renotubular syndrome 2", "MONDO:0013248": "Fanconi anemia complementation group O", "MONDO:0013249": "autosomal recessive nonsyndromic deafness 84A", "MONDO:0013250": "autosomal recessive nonsyndromic deafness 85", "MONDO:0013251": "Birbeck granule deficiency", "MONDO:0013253": "breast-ovarian cancer, familial, susceptibility to, 3", "MONDO:0013255": "arthrogryposis, renal dysfunction, and cholestasis 2", "MONDO:0013257": "LPRS6", "MONDO:0013258": "autism, susceptibility to, 16", "MONDO:0013259": "Oguchi disease-2", "MONDO:0013260": "EOE2", "MONDO:0013261": "dilated cardiomyopathy 1R", "MONDO:0013262": "dilated cardiomyopathy 1S", "MONDO:0013263": "retinitis pigmentosa 54", "MONDO:0013264": "amyotrophic lateral sclerosis type 12", "MONDO:0013265": "autism, susceptibility to, 17", "MONDO:0013269": "autosomal recessive nonsyndromic deafness 91", "MONDO:0013274": "retinitis pigmentosa 51", "MONDO:0013277": "epileptic encephalopathy, early infantile, 5", "MONDO:0013278": "lymphedema, hereditary, 1C", "MONDO:0013279": "long QT syndrome 13", "MONDO:0013280": "myxoid liposarcoma", "MONDO:0013283": "immunodeficiency, common variable, 3", "MONDO:0013284": "immunodeficiency, common variable, 4", "MONDO:0013285": "immunodeficiency, common variable, 5", "MONDO:0013286": "immunodeficiency, common variable, 6", "MONDO:0013287": "agammaglobulinemia 2, autosomal recessive", "MONDO:0013288": "agammaglobulinemia 3, autosomal recessive", "MONDO:0013289": "agammaglobulinemia 4, autosomal recessive", "MONDO:0013290": "agammaglobulinemia 5, autosomal dominant", "MONDO:0013293": "isolated microphthalmia 6", "MONDO:0013294": "atopic dermatitis 8", "MONDO:0013295": "atopic dermatitis 9", "MONDO:0013299": "chromosome 6q11-q14 deletion syndrome", "MONDO:0013302": "nephronophthisis 11", "MONDO:0013303": "autoimmune disease, susceptibility to, 6", "MONDO:0013305": "autosomal dominant nonsyndromic deafness 51", "MONDO:0013307": "myopathy, lactic acidosis, and sideroblastic anemia 2", "MONDO:0013309": "chromosome 2p12-p11.2 deletion syndrome", "MONDO:0013312": "retinitis pigmentosa 55", "MONDO:0013314": "retinitis pigmentosa 56", "MONDO:0013315": "retinitis pigmentosa 57", "MONDO:0013318": "early repolarization associated with ventricular fibrillation", "MONDO:0013319": "chromosome 4Q32.1-q32.2 triplication syndrome", "MONDO:0013321": "FWS", "MONDO:0013322": "FAME3", "MONDO:0013323": "cranioectodermal dysplasia 2", "MONDO:0013326": "Senior-Loken syndrome 7", "MONDO:0013328": "retinitis pigmentosa 58", "MONDO:0013330": "agenesis of the corpus callosum and congenital lymphedema", "MONDO:0013331": "factor 5 and Factor VIII, combined deficiency of, 2", "MONDO:0013332": "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation", "MONDO:0013333": "odontoid hypoplasia", "MONDO:0013335": "tuberculin skin test reactivity, absence of", "MONDO:0013337": "neuropathy, hereditary sensory and autonomic, type 1C", "MONDO:0013339": "dilated cardiomyopathy 1GG", "MONDO:0013340": "Parkinson disease 5, autosomal dominant, susceptibility to", "MONDO:0013344": "migraine, with or without aura, susceptibility to, 13", "MONDO:0013345": "d-2-hydroxyglutaric aciduria 2", "MONDO:0013348": "cone-rod dystrophy 15", "MONDO:0013350": "mitochondrial DNA depletion syndrome 4b", "MONDO:0013356": "vesicoureteral reflux 3", "MONDO:0013358": "Seckel syndrome 4", "MONDO:0013365": "autosomal recessive nonsyndromic deafness 83", "MONDO:0013366": "spondylocostal dysostosis 4, autosomal recessive", "MONDO:0013367": "long QT syndrome 2", "MONDO:0013369": "hypertrophic cardiomyopathy 7", "MONDO:0013370": "long QT syndrome 6", "MONDO:0013371": "dilated cardiomyopathy 1U", "MONDO:0013372": "long QT syndrome 5", "MONDO:0013373": "dilated cardiomyopathy 1V", "MONDO:0013374": "supernumerary der(22)t(8;22) syndrome", "MONDO:0013375": "Klippel-Feil syndrome 3, autosomal dominant", "MONDO:0013376": "microphthalmia, isolated, with coloboma 6", "MONDO:0013377": "isolated microphthalmia 7", "MONDO:0013378": "orofacial cleft 10", "MONDO:0013379": "Noonan syndrome 7", "MONDO:0013380": "LEOPARD syndrome 3", "MONDO:0013381": "neuropathy, hereditary sensory, type 1D", "MONDO:0013383": "Hirschsprung disease, susceptibility to, 3", "MONDO:0013384": "Hirschsprung disease, susceptibility to, 4", "MONDO:0013385": "Treacher Collins syndrome 2", "MONDO:0013386": "autosomal recessive nonsyndromic deafness 74", "MONDO:0013388": "epileptic encephalopathy, early infantile, 11", "MONDO:0013389": "epileptic encephalopathy, early infantile, 12", "MONDO:0013395": "retinitis pigmentosa 4", "MONDO:0013397": "acne inversa, familial, 2", "MONDO:0013398": "acne inversa, familial, 3", "MONDO:0013401": "hereditary spastic paraplegia 51", "MONDO:0013402": "retinitis pigmentosa 27", "MONDO:0013403": "heterotaxy, visceral, 4, autosomal", "MONDO:0013405": "retinitis pigmentosa 49", "MONDO:0013406": "age related macular degeneration 6", "MONDO:0013407": "retinitis pigmentosa 47", "MONDO:0013409": "age related macular degeneration 5", "MONDO:0013410": "46,XY sex reversal 6", "MONDO:0013411": "cataract 16 multiple types", "MONDO:0013412": "hypertrophic cardiomyopathy 9", "MONDO:0013413": "retinitis pigmentosa 45", "MONDO:0013414": "retinitis pigmentosa 44", "MONDO:0013415": "chromosome 17p13.1 deletion syndrome", "MONDO:0013416": "age related macular degeneration 8", "MONDO:0013418": "aortic aneurysm, familial thoracic 7", "MONDO:0013419": "complement component C1s deficiency", "MONDO:0013420": "age related macular degeneration 12", "MONDO:0013421": "type II complement component 8 deficiency", "MONDO:0013422": "type i complement component 8 deficiency", "MONDO:0013425": "retinitis pigmentosa 20", "MONDO:0013428": "Meier-Gorlin syndrome 2", "MONDO:0013429": "retinitis pigmentosa 40", "MONDO:0013430": "Meier-Gorlin syndrome 3", "MONDO:0013431": "Meier-Gorlin syndrome 4", "MONDO:0013432": "Meier-Gorlin syndrome 5", "MONDO:0013434": "primary ciliary dyskinesia 14", "MONDO:0013435": "primary ciliary dyskinesia 15", "MONDO:0013436": "retinitis pigmentosa 39", "MONDO:0013437": "retinitis pigmentosa 43", "MONDO:0013438": "pontocerebellar hypoplasia type 2D", "MONDO:0013441": "asphyxiating thoracic dystrophy 4", "MONDO:0013442": "nephronophthisis 12", "MONDO:0013443": "Seckel syndrome 5", "MONDO:0013444": "nephronophthisis 9", "MONDO:0013445": "complement component 9 deficiency", "MONDO:0013446": "Leber congenital amaurosis 6", "MONDO:0013447": "retinitis pigmentosa 48", "MONDO:0013448": "GEFSP8", "MONDO:0013449": "Leber congenital amaurosis 7", "MONDO:0013450": "congenital stationary night blindness 1D", "MONDO:0013453": "Leber congenital amaurosis 8", "MONDO:0013454": "Leber congenital amaurosis 11", "MONDO:0013455": "hypertrophic cardiomyopathy 16", "MONDO:0013457": "Leber congenital amaurosis 15", "MONDO:0013459": "osteogenesis imperfecta type 10", "MONDO:0013460": "osteogenesis imperfecta type 12", "MONDO:0013462": "fucosyltransferase 6 deficiency", "MONDO:0013463": "dextro-looped transposition of the great arteries 3", "MONDO:0013465": "achromatopsia 4", "MONDO:0013466": "orofacial cleft 13", "MONDO:0013468": "retinitis pigmentosa 59", "MONDO:0013469": "retinitis pigmentosa 38", "MONDO:0013470": "generalized epilepsy with febrile seizures plus, type 7", "MONDO:0013471": "autosomal recessive nonsyndromic deafness 61", "MONDO:0013473": "Hirschsprung disease, cardiac defects, and autonomic dysfunction", "MONDO:0013474": "hypertrophic cardiomyopathy 17", "MONDO:0013475": "hypertrophic cardiomyopathy 18", "MONDO:0013477": "hypertrophic cardiomyopathy 20", "MONDO:0013479": "dilated cardiomyopathy 1HH", "MONDO:0013480": "renal hypomagnesemia 6", "MONDO:0013482": "Meckel syndrome, type 8", "MONDO:0013483": "obesity, hyperphagia, and developmental delay", "MONDO:0013484": "cataract 36", "MONDO:0013488": "APLDC3", "MONDO:0013489": "autosomal recessive nonsyndromic deafness 89", "MONDO:0013490": "megalencephalic leukoencephalopathy with subcortical cysts 2A", "MONDO:0013491": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation", "MONDO:0013492": "APMR3", "MONDO:0013493": "ACACAD", "MONDO:0013495": "autosomal recessive congenital ichthyosis 8", "MONDO:0013496": "IGAN2", "MONDO:0013497": "Okt4 epitope deficiency", "MONDO:0013498": "schizophrenia 15", "MONDO:0013499": "Fanconi anemia complementation group P", "MONDO:0013500": "immunodeficiency 51", "MONDO:0013501": "amyotrophic lateral sclerosis type 14", "MONDO:0013502": "amyloidosis, primary localized cutaneous, 2", "MONDO:0013503": "candidiasis, familial, 6", "MONDO:0013504": "spermatogenic failure 8", "MONDO:0013505": "spermatogenic failure 9", "MONDO:0013506": "schizophrenia 16", "MONDO:0013507": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3", "MONDO:0013508": "MYP19", "MONDO:0013509": "intellectual disability, autosomal dominant 6", "MONDO:0013510": "melanoma, cutaneous malignant, susceptibility to, 6", "MONDO:0013511": "cyanosis, transient neonatal", "MONDO:0013513": "atrial fibrillation, familial, 9", "MONDO:0013514": "hypotrichosis 3", "MONDO:0013515": "osteogenesis imperfecta type 6", "MONDO:0013516": "retinitis pigmentosa 60", "MONDO:0013517": "beta-thalassemia HBB/LCRB", "MONDO:0013518": "pituitary hormone deficiency, combined, 6", "MONDO:0013519": "dyskeratosis congenita, autosomal recessive 2", "MONDO:0013520": "dyskeratosis congenita, autosomal recessive 3", "MONDO:0013521": "dyskeratosis congenita, autosomal dominant 2", "MONDO:0013522": "dyskeratosis congenita, autosomal dominant 3", "MONDO:0013525": "primary ciliary dyskinesia 16", "MONDO:0013527": "lissencephaly 4", "MONDO:0013528": "intellectual disability, autosomal recessive 14", "MONDO:0013529": "catecholaminergic polymorphic ventricular tachycardia 3", "MONDO:0013530": "atrial fibrillation, familial, 10", "MONDO:0013532": "protein Z deficiency", "MONDO:0013534": "apolipoprotein c-III deficiency", "MONDO:0013535": "hydroxyacyl glutathione hydrolase deficiency", "MONDO:0013537": "autosomal recessive nonsyndromic deafness 29", "MONDO:0013538": "alpha-2-macroglobulin deficiency", "MONDO:0013542": "Moyamoya disease 5", "MONDO:0013543": "trypsinogen deficiency", "MONDO:0013544": "atrial fibrillation, familial, 11", "MONDO:0013545": "atrial fibrillation, familial, 12", "MONDO:0013547": "mitochondrial complex V (ATP synthase) deficiency nuclear type 3", "MONDO:0013548": "acetyl-CoA acetyltransferase-2 deficiency", "MONDO:0013549": "N-acetylaspartate deficiency", "MONDO:0013551": "hereditary spastic paraplegia 47", "MONDO:0013552": "hereditary spastic paraplegia 52", "MONDO:0013553": "immunodeficiency-centromeric instability-facial anomalies syndrome 2", "MONDO:0013554": "psoriasis 13, susceptibility to", "MONDO:0013555": "Hermansky-Pudlak syndrome 3", "MONDO:0013556": "Hermansky-Pudlak syndrome 4", "MONDO:0013557": "Hermansky-Pudlak syndrome 5", "MONDO:0013558": "Hermansky-Pudlak syndrome 6", "MONDO:0013562": "aspergillosis, susceptibility to", "MONDO:0013564": "anhaptoglobinemia", "MONDO:0013565": "Fanconi anemia complementation group G", "MONDO:0013566": "Fanconi anemia complementation group L", "MONDO:0013567": "atrial heart septal defect 3", "MONDO:0013568": "sick sinus syndrome 3, susceptibility to", "MONDO:0013573": "cranioectodermal dysplasia 3", "MONDO:0013575": "plasma fibronectin deficiency", "MONDO:0013581": "intellectual disability, autosomal dominant 2", "MONDO:0013582": "mosaic variegated aneuploidy syndrome 2", "MONDO:0013585": "hydrolethalus syndrome 2", "MONDO:0013586": "Chitotriosidase deficiency", "MONDO:0013588": "Perrault syndrome 3", "MONDO:0013589": "focal segmental glomerulosclerosis 6", "MONDO:0013590": "Stickler syndrome, type 4", "MONDO:0013591": "epiphyseal dysplasia, multiple, 6", "MONDO:0013592": "nonsyndromic congenital nail disorder 9", "MONDO:0013593": "autosomal dominant nonsyndromic deafness 64", "MONDO:0013596": "nonsyndromic congenital nail disorder 10", "MONDO:0013597": "platelet-type bleeding disorder 14", "MONDO:0013601": "gluthathione peroxidase deficiency", "MONDO:0013602": "paragangliomas 5", "MONDO:0013603": "MYP20", "MONDO:0013604": "myopia 21, autosomal dominant", "MONDO:0013605": "brittle cornea syndrome 2", "MONDO:0013608": "Joubert syndrome 13", "MONDO:0013609": "Meckel syndrome, type 10", "MONDO:0013610": "retinitis pigmentosa 61", "MONDO:0013611": "retinitis pigmentosa 62", "MONDO:0013612": "Geleophysic dysplasia 2", "MONDO:0013613": "Leber congenital amaurosis 16", "MONDO:0013616": "pigmented nodular adrenocortical disease, primary, 3", "MONDO:0013617": "overgrowth-macrocephaly-facial dysmorphism syndrome", "MONDO:0013618": "craniofacial anomalies and anterior segment dysgenesis syndrome", "MONDO:0013619": "nephrotic syndrome, type 6", "MONDO:0013620": "congenital myasthenic syndrome 16", "MONDO:0013624": "intellectual disability, autosomal recessive 15", "MONDO:0013625": "Parkinson disease 17", "MONDO:0013627": "three M syndrome 3", "MONDO:0013628": "hyperphosphatasia with intellectual disability syndrome 3", "MONDO:0013629": "MRT16", "MONDO:0013630": "Meckel syndrome, type 9", "MONDO:0013631": "LNCR5", "MONDO:0013632": "autosomal dominant nonsyndromic deafness 33", "MONDO:0013633": "encephalopathy, acute, infection-induced, susceptibility to, 4", "MONDO:0013634": "neuropathy, hereditary sensory, type 2C", "MONDO:0013635": "Adams-Oliver syndrome 2", "MONDO:0013636": "primary biliary cholangitis 4", "MONDO:0013637": "primary biliary cholangitis 5", "MONDO:0013638": "Warburg micro syndrome 3", "MONDO:0013639": "narcolepsy 6, susceptibility to", "MONDO:0013641": "Warburg micro syndrome 2", "MONDO:0013642": "holoprosencephaly 11", "MONDO:0013643": "hyperuricemic nephropathy, familial juvenile type 3", "MONDO:0013649": "hypotrichosis 9", "MONDO:0013650": "hypotrichosis 10", "MONDO:0013651": "intellectual disability, autosomal recessive 18", "MONDO:0013652": "narcolepsy 7", "MONDO:0013653": "Parkinson disease 18, autosomal dominant, susceptibility to", "MONDO:0013654": "ANIB11", "MONDO:0013655": "intellectual disability, autosomal dominant 8", "MONDO:0013657": "intellectual disability, autosomal dominant 10", "MONDO:0013658": "intellectual disability, autosomal dominant 11", "MONDO:0013660": "arthrogryposis, Perthes disease, and upward gaze palsy", "MONDO:0013663": "platelet-activating factor acetylhydrolase deficiency (disease)", "MONDO:0013665": "EJM9", "MONDO:0013666": "Stickler syndrome, type 5", "MONDO:0013669": "breast-ovarian cancer, familial, susceptibility to, 4", "MONDO:0013670": "myopia, high, with cataract and vitreoretinal degeneration", "MONDO:0013671": "hydatidiform mole, recurrent, 2", "MONDO:0013672": "chromosome 15q25 deletion syndrome", "MONDO:0013677": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant", "MONDO:0013679": "sclerosteosis 2", "MONDO:0013680": "cognitive impairment with or without cerebellar ataxia", "MONDO:0013681": "alpha-methylacyl-CoA racemase deficiency", "MONDO:0013682": "VUR4", "MONDO:0013683": "VUR5", "MONDO:0013684": "VUR6", "MONDO:0013685": "pancreatic cancer, susceptibility to, 4", "MONDO:0013689": "ovarian dysgenesis 3", "MONDO:0013690": "Pitt-Hopkins-like syndrome 2", "MONDO:0013693": "inflammatory skin and bowel disease, neonatal, 1", "MONDO:0013694": "MRT31", "MONDO:0013695": "colorectal cancer, hereditary nonpolyposis, type 6", "MONDO:0013696": "chromosome 2P16.3 deletion syndrome", "MONDO:0013697": "MRT29", "MONDO:0013698": "arthrogryposis, distal, type 1B", "MONDO:0013699": "colorectal cancer, hereditary nonpolyposis, type 4", "MONDO:0013701": "MRT32", "MONDO:0013702": "intellectual disability, autosomal recessive 27", "MONDO:0013703": "MRT33", "MONDO:0013704": "MRT30", "MONDO:0013705": "MRT19", "MONDO:0013706": "MRT23", "MONDO:0013707": "MRT24", "MONDO:0013708": "MRT25", "MONDO:0013709": "MRT28", "MONDO:0013710": "colorectal cancer, hereditary nonpolyposis, type 5", "MONDO:0013712": "surfactant metabolism dysfunction, pulmonary, 5", "MONDO:0013713": "dengue virus, susceptibility to", "MONDO:0013714": "mannose-binding lectin deficiency", "MONDO:0013715": "amyotrophic lateral sclerosis type 16", "MONDO:0013716": "AAA4", "MONDO:0013717": "asphyxiating thoracic dystrophy 5", "MONDO:0013718": "nephronophthisis 13", "MONDO:0013719": "cranioectodermal dysplasia 4", "MONDO:0013720": "complement component 4b deficiency", "MONDO:0013721": "complement component 4a deficiency", "MONDO:0013723": "bacteremia, susceptibility to, 1", "MONDO:0013724": "bacteremia, susceptibility to, 2", "MONDO:0013725": "colorectal cancer, hereditary nonpolyposis, type 7", "MONDO:0013727": "pregnancy loss, recurrent, susceptibility to, 1", "MONDO:0013728": "pregnancy loss, recurrent, susceptibility to, 2", "MONDO:0013729": "pregnancy loss, recurrent, susceptibility to, 3", "MONDO:0013732": "glucocorticoid therapy, response to", "MONDO:0013733": "accelerated tumor formation, susceptibility to", "MONDO:0013734": "microphthalmia, syndromic 11", "MONDO:0013738": "autosomal recessive nonsyndromic deafness 96", "MONDO:0013739": "chilblain lupus 2", "MONDO:0013741": "familial temporal lobe epilepsy 5", "MONDO:0013744": "cataract 37", "MONDO:0013745": "Joubert syndrome 14", "MONDO:0013746": "ventricular septal defect 1", "MONDO:0013747": "atrioventricular septal defect 4", "MONDO:0013748": "ventricular septal defect 2", "MONDO:0013749": "ventricular septal defect 3", "MONDO:0013750": "atrial heart septal defect 8", "MONDO:0013751": "cutis laxa, autosomal dominant 2", "MONDO:0013752": "hypoplastic left heart syndrome 2", "MONDO:0013754": "cutis laxa, autosomal recessive, type 1B", "MONDO:0013756": "hypertrophic osteoarthropathy, primary, autosomal recessive, 2", "MONDO:0013757": "congenital nongoitrous hypothryoidism 6", "MONDO:0013763": "Joubert syndrome 15", "MONDO:0013764": "Joubert syndrome 16", "MONDO:0013765": "coronary heart disease, susceptibility to, 6", "MONDO:0013768": "arterial calcification, generalized, of infancy, 2", "MONDO:0013769": "atrioventricular septal defect 5", "MONDO:0013770": "atrial heart septal defect 9", "MONDO:0013773": "porencephaly 2", "MONDO:0013774": "trigonocephaly 2", "MONDO:0013779": "Wiskott-Aldrich syndrome 2", "MONDO:0013780": "retinitis pigmentosa 63", "MONDO:0013783": "microphthalmia, isolated, with coloboma 7", "MONDO:0013785": "intellectual disability, autosomal recessive 34", "MONDO:0013786": "cone-rod dystrophy 16", "MONDO:0013787": "psychomotor retardation, epilepsy, and craniofacial dysmorphism", "MONDO:0013788": "Usher syndrome type 3B", "MONDO:0013790": "mirror movements 2", "MONDO:0013791": "thrombophilia due to protein S deficiency, autosomal recessive", "MONDO:0013793": "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency", "MONDO:0013794": "thrombocythemia 3", "MONDO:0013795": "fibrochondrogenesis 2", "MONDO:0013799": "efavirenz, poor metabolism of", "MONDO:0013801": "epileptic encephalopathy, early infantile, 13", "MONDO:0013805": "intellectual disability, autosomal dominant 13", "MONDO:0013807": "congenital stationary night blindness 1E", "MONDO:0013812": "Baraitser-winter syndrome 2", "MONDO:0013814": "PDCOS", "MONDO:0013817": "preeclampsia/eclampsia 5", "MONDO:0013818": "trichohepatoenteric syndrome 2", "MONDO:0013819": "intellectual disability, autosomal dominant 14", "MONDO:0013820": "intellectual disability, autosomal dominant 15", "MONDO:0013821": "intellectual disability, autosomal dominant 16", "MONDO:0013822": "acrodysostosis 2 with or without hormone resistance", "MONDO:0013823": "autosomal dominant nonsyndromic deafness 4B", "MONDO:0013824": "Joubert syndrome 17", "MONDO:0013826": "autosomal recessive nonsyndromic deafness 86", "MONDO:0013827": "hyperekplexia 3", "MONDO:0013828": "hyperekplexia 2", "MONDO:0013829": "UV-sensitive syndrome 2", "MONDO:0013830": "KTCN5", "MONDO:0013831": "KTCN6", "MONDO:0013832": "KTCN8", "MONDO:0013833": "KTCN7", "MONDO:0013834": "UV-sensitive syndrome 3", "MONDO:0013835": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7", "MONDO:0013838": "coenzyme Q10 deficiency, primary, 3", "MONDO:0013841": "stuttering, familial persistent, 3", "MONDO:0013842": "cortisone reductase deficiency 2", "MONDO:0013844": "stuttering, familial persistent, 4", "MONDO:0013845": "auriculocondylar syndrome 2", "MONDO:0013846": "peripartum cardiomyopathy, susceptibility to", "MONDO:0013848": "dilated cardiomyopathy 2B", "MONDO:0013849": "microcephaly 8, primary, autosomal recessive", "MONDO:0013852": "hypertrophic cardiomyopathy 21", "MONDO:0013853": "pontocerebellar hypoplasia type 1B", "MONDO:0013854": "primary ciliary dyskinesia 17", "MONDO:0013855": "influenza, severe, susceptibility to", "MONDO:0013856": "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes", "MONDO:0013857": "alar cleft, isolated", "MONDO:0013859": "cataract 38", "MONDO:0013862": "immunodeficiency, common variable, 7", "MONDO:0013864": "Cornelia de Lange syndrome 4", "MONDO:0013868": "POROK7", "MONDO:0013871": "Seckel syndrome 6", "MONDO:0013872": "prostate cancer, hereditary, 2", "MONDO:0013874": "glucocorticoid deficiency 4", "MONDO:0013876": "basal cell carcinoma, susceptibility to, 7", "MONDO:0013878": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1", "MONDO:0013879": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2", "MONDO:0013880": "facial paresis, hereditary congenital, 3", "MONDO:0013882": "hyperphosphatasia with intellectual disability syndrome 2", "MONDO:0013883": "congenital myasthenic syndrome 13", "MONDO:0013884": "neuronopathy, distal hereditary motor, type 5B", "MONDO:0013887": "heterotaxy, visceral, 6, autosomal", "MONDO:0013888": "tremor, hereditary essential, 4", "MONDO:0013891": "amyotrophic lateral sclerosis type 18", "MONDO:0013893": "multiple sclerosis, susceptibility to, 5", "MONDO:0013895": "Adams-Oliver syndrome 3", "MONDO:0013896": "Joubert syndrome 18", "MONDO:0013897": "Loeys-Dietz syndrome 4", "MONDO:0013899": "Weill-Marchesani syndrome 3", "MONDO:0013900": "alternating hemiplegia of childhood 2", "MONDO:0013901": "spermatogenic failure 10", "MONDO:0013902": "aortic valve disease 2", "MONDO:0013903": "NYS7", "MONDO:0013904": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8", "MONDO:0013906": "amelogenesis imperfecta hypomaturation type 2A4", "MONDO:0013908": "TTPP3", "MONDO:0013909": "HHV8S", "MONDO:0013910": "hypogonadotropic hypogonadism 8 with or without anosmia", "MONDO:0013911": "hypogonadotropic hypogonadism 9 with or without anosmia", "MONDO:0013912": "hypogonadotropic hypogonadism 10 with or without anosmia", "MONDO:0013913": "hypogonadotropic hypogonadism 11 with or without anosmia", "MONDO:0013914": "hypogonadotropic hypogonadism 12 with or without anosmia", "MONDO:0013915": "hypogonadotropic hypogonadism 13 with or without anosmia", "MONDO:0013916": "nephronophthisis 14", "MONDO:0013917": "nephronophthisis 15", "MONDO:0013919": "epilepsy, idiopathic generalized, susceptibility to, 12", "MONDO:0013920": "herpes simplex encephalitis, susceptibility to, 3", "MONDO:0013921": "herpes simplex encephalitis, susceptibility to, 4", "MONDO:0013923": "microcephaly 9, primary, autosomal recessive", "MONDO:0013924": "osteogenesis imperfecta type 13", "MONDO:0013926": "hypogonadotropic hypogonadism 14 with or without anosmia", "MONDO:0013927": "peroxisome biogenesis disorder 3A (Zellweger)", "MONDO:0013929": "autosomal recessive nonsyndromic deafness 98", "MONDO:0013930": "peroxisome biogenesis disorder 4A (Zellweger)", "MONDO:0013931": "peroxisome biogenesis disorder 4B", "MONDO:0013932": "peroxisome biogenesis disorder 5A (Zellweger)", "MONDO:0013933": "peroxisome biogenesis disorder 5B", "MONDO:0013935": "Usher syndrome type 1J", "MONDO:0013936": "peroxisome biogenesis disorder 6A (Zellweger)", "MONDO:0013937": "peroxisome biogenesis disorder 6B", "MONDO:0013938": "peroxisome biogenesis disorder 7A (Zellweger)", "MONDO:0013939": "peroxisome biogenesis disorder 7B", "MONDO:0013940": "primary ciliary dyskinesia 18", "MONDO:0013942": "peroxisome biogenesis disorder 8A (Zellweger)", "MONDO:0013943": "peroxisome biogenesis disorder 8B", "MONDO:0013945": "peroxisome biogenesis disorder 9B", "MONDO:0013946": "hypogonadotropic hypogonadism 15 with or without anosmia", "MONDO:0013948": "peroxisome biogenesis disorder 10A (Zellweger)", "MONDO:0013949": "peroxisome biogenesis disorder 11A (Zellweger)", "MONDO:0013950": "peroxisome biogenesis disorder 11B", "MONDO:0013951": "peroxisome biogenesis disorder 12A (Zellweger)", "MONDO:0013952": "peroxisome biogenesis disorder 13A (Zellweger)", "MONDO:0013953": "immunodeficiency 28", "MONDO:0013961": "hypogonadotropic hypogonadism 16 with or without anosmia", "MONDO:0013963": "autosomal recessive nonsyndromic deafness 93", "MONDO:0013964": "Diamond-Blackfan anemia 11", "MONDO:0013965": "lethal congenital contracture syndrome 4", "MONDO:0013966": "catecholaminergic polymorphic ventricular tachycardia 4", "MONDO:0013967": "peroxisome biogenesis disorder 14B", "MONDO:0013973": "ECTD5", "MONDO:0013974": "ECTD6", "MONDO:0013975": "ectodermal dysplasia 7, hair/nail type", "MONDO:0013976": "ectodermal dysplasia 9, hair/nail type", "MONDO:0013978": "autosomal recessive nonsyndromic deafness 70", "MONDO:0013979": "primary ciliary dyskinesia 19", "MONDO:0013980": "PPKP1B", "MONDO:0013982": "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant", "MONDO:0013983": "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive", "MONDO:0013984": "autosomal recessive nonsyndromic deafness 84B", "MONDO:0013985": "autosomal recessive nonsyndromic deafness 18B", "MONDO:0013988": "CHTD3", "MONDO:0013989": "epileptic encephalopathy, early infantile, 14", "MONDO:0013994": "Joubert syndrome 20", "MONDO:0013995": "cholestasis, intrahepatic, of pregnancy 3", "MONDO:0013998": "Carpenter syndrome 2", "MONDO:0014000": "congenital heart defects, multiple types, 2", "MONDO:0014001": "Usher syndrome type 1K", "MONDO:0014002": "autosomal dominant nocturnal frontal lobe epilepsy 5", "MONDO:0014003": "epileptic encephalopathy, early infantile, 15", "MONDO:0014004": "basal ganglia calcification, idiopathic, 4", "MONDO:0014007": "Aicardi-Goutieres syndrome 6", "MONDO:0014008": "phosphohydroxylysinuria", "MONDO:0014009": "autosomal recessive congenital ichthyosis 7", "MONDO:0014010": "autosomal recessive congenital ichthyosis 9", "MONDO:0014011": "autosomal recessive congenital ichthyosis 10", "MONDO:0014022": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10", "MONDO:0014026": "congenital stationary night blindness 1F", "MONDO:0014027": "hypotrichosis 11", "MONDO:0014029": "osteogenesis imperfecta type 14", "MONDO:0014030": "primary ciliary dyskinesia 20", "MONDO:0014032": "brachydactyly type A1C", "MONDO:0014036": "Alzheimer disease 17", "MONDO:0014037": "spermatogenic failure 11", "MONDO:0014038": "colorectal cancer, susceptibility to, 12", "MONDO:0014040": "autosomal recessive osteopetrosis 8", "MONDO:0014041": "autism, susceptibility to, 19", "MONDO:0014042": "left ventricular noncompaction 7", "MONDO:0014046": "Cowden syndrome 4", "MONDO:0014047": "Cowden syndrome 5", "MONDO:0014048": "Cowden syndrome 6", "MONDO:0014049": "urofacial syndrome 2", "MONDO:0014050": "isolated microphthalmia 8", "MONDO:0014051": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2", "MONDO:0014052": "congenital myasthenic syndrome 8", "MONDO:0014053": "stomatin-like protein-2, hyperphosphorylation of", "MONDO:0014054": "lymphoproliferative syndrome 2", "MONDO:0014055": "FAME4", "MONDO:0014056": "melanoma, cutaneous malignant, susceptibility to, 9", "MONDO:0014057": "maple syrup urine disease, mild variant", "MONDO:0014059": "microphthalmia, isolated, with coloboma 9", "MONDO:0014063": "mitochondrial complex III deficiency nuclear type 2", "MONDO:0014064": "mitochondrial complex III deficiency nuclear type 3", "MONDO:0014065": "mitochondrial complex III deficiency nuclear type 4", "MONDO:0014066": "mitochondrial complex III deficiency nuclear type 5", "MONDO:0014068": "cone-rod dystrophy 17", "MONDO:0014071": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "MONDO:0014073": "dilated cardiomyopathy 1II", "MONDO:0014075": "cataract 39 multiple types", "MONDO:0014076": "dyskeratosis congenita, autosomal recessive 5", "MONDO:0014078": "platelet-type bleeding disorder 15", "MONDO:0014079": "restless legs syndrome, susceptibility to, 8", "MONDO:0014083": "agammaglobulinemia 7, autosomal recessive", "MONDO:0014084": "ataxia with oculomotor apraxia type 3", "MONDO:0014085": "hydrocephalus, nonsyndromic, autosomal recessive 2", "MONDO:0014086": "osteogenesis imperfecta type 15", "MONDO:0014087": "Smith-McCort dysplasia 2", "MONDO:0014088": "advanced sleep phase syndrome 2", "MONDO:0014090": "polydactyly, postaxial, type A6", "MONDO:0014091": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4", "MONDO:0014092": "schizophrenia 18", "MONDO:0014093": "retinitis pigmentosa 66", "MONDO:0014095": "dilated cardiomyopathy 1JJ", "MONDO:0014099": "nephrotic syndrome, type 8", "MONDO:0014100": "dilated cardiomyopathy 1KK", "MONDO:0014101": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "MONDO:0014102": "hypogonadotropic hypogonadism 17 with or without anosmia", "MONDO:0014103": "hypogonadotropic hypogonadism 18 with or without anosmia", "MONDO:0014104": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4", "MONDO:0014105": "hypogonadotropic hypogonadism 19 with or without anosmia", "MONDO:0014106": "hypogonadotropic hypogonadism 20 with or without anosmia", "MONDO:0014107": "hypogonadotropic hypogonadism 21 with or without anosmia", "MONDO:0014108": "Fanconi anemia complementation group Q", "MONDO:0014110": "cataract 15 multiple types", "MONDO:0014111": "cataract 19 multiple types", "MONDO:0014112": "cardiofaciocutaneous syndrome 2", "MONDO:0014113": "cardiofaciocutaneous syndrome 3", "MONDO:0014114": "cardiofaciocutaneous syndrome 4", "MONDO:0014116": "complex cortical dysplasia with other brain malformations 2", "MONDO:0014120": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "MONDO:0014122": "myofibromatosis, infantile, 2", "MONDO:0014123": "primary ciliary dyskinesia 21", "MONDO:0014124": "Adams-Oliver syndrome 4", "MONDO:0014125": "symphalangism, proximal, 1B", "MONDO:0014126": "Perrault syndrome 4", "MONDO:0014130": "Dowling-Degos disease 2", "MONDO:0014133": "epileptic encephalopathy, early infantile, 16", "MONDO:0014134": "pulmonary hypertension, primary, 2", "MONDO:0014135": "pulmonary hypertension, primary, 3", "MONDO:0014136": "pulmonary hypertension, primary, 4", "MONDO:0014137": "precocious puberty, central, 2", "MONDO:0014138": "nemaline myopathy 8", "MONDO:0014140": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", "MONDO:0014141": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B14", "MONDO:0014143": "Noonan syndrome 8", "MONDO:0014145": "Leber congenital amaurosis 17", "MONDO:0014146": "autosomal dominant hypocalcemia 2", "MONDO:0014150": "childhood onset epileptic encephalopathy", "MONDO:0014151": "pulmonary hypertension, neonatal, susceptibility to", "MONDO:0014152": "left ventricular noncompaction 8", "MONDO:0014153": "cone-rod dystrophy 18", "MONDO:0014155": "atrial fibrillation, familial, 13", "MONDO:0014156": "atrial fibrillation, familial, 14", "MONDO:0014158": "nephronophthisis 16", "MONDO:0014161": "VUR7", "MONDO:0014163": "left ventricular noncompaction 10", "MONDO:0014164": "Meckel syndrome, type 11", "MONDO:0014166": "paroxysmal nocturnal hemoglobinuria 2", "MONDO:0014167": "epilepsy, familial adult myoclonic, 5", "MONDO:0014169": "dyschromatosis universalis hereditaria 3", "MONDO:0014170": "complex cortical dysplasia with other brain malformations 3", "MONDO:0014171": "complex cortical dysplasia with other brain malformations 4", "MONDO:0014172": "spermatogenic failure 12", "MONDO:0014173": "microcephaly 11, primary, autosomal recessive", "MONDO:0014174": "renal-hepatic-pancreatic dysplasia 2", "MONDO:0014175": "mitochondrial DNA depletion syndrome 12", "MONDO:0014177": "myopia 22, autosomal dominant", "MONDO:0014178": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2", "MONDO:0014179": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3", "MONDO:0014181": "amyotrophic lateral sclerosis type 20", "MONDO:0014182": "autosomal recessive nonsyndromic deafness 88", "MONDO:0014183": "myopia 23, autosomal recessive", "MONDO:0014184": "specific language impairment 5", "MONDO:0014186": "retinitis pigmentosa with or without situs inversus", "MONDO:0014187": "aortic aneurysm, familial thoracic 8", "MONDO:0014189": "age related macular degeneration 13", "MONDO:0014191": "catecholaminergic polymorphic ventricular tachycardia 5", "MONDO:0014192": "primary ciliary dyskinesia 22", "MONDO:0014193": "primary ciliary dyskinesia 23", "MONDO:0014194": "mitochondrial complex III deficiency nuclear type 6", "MONDO:0014199": "epileptic encephalopathy, early infantile, 17", "MONDO:0014202": "primary ciliary dyskinesia 24", "MONDO:0014203": "primary ciliary dyskinesia 25", "MONDO:0014204": "basal ganglia calcification, idiopathic, 5", "MONDO:0014207": "age related macular degeneration 14", "MONDO:0014211": "primary ciliary dyskinesia 26", "MONDO:0014214": "short-rib thoracic dysplasia 8 with or without polydactyly", "MONDO:0014215": "primary ciliary dyskinesia 27", "MONDO:0014216": "primary ciliary dyskinesia 28", "MONDO:0014217": "telangiectasia, hereditary hemorrhagic, type 5", "MONDO:0014219": "alacrima, achalasia, and mental retardation syndrome", "MONDO:0014220": "myopathy due to myoadenylate deaminase deficiency", "MONDO:0014222": "immunodeficiency 14", "MONDO:0014223": "amyotrophic lateral sclerosis type 19", "MONDO:0014228": "corneal dystrophy, Fuchs endothelial, 8", "MONDO:0014229": "microphthalmia, syndromic 12", "MONDO:0014230": "candidiasis, familial, 8", "MONDO:0014231": "juvenile onset Parkinson disease 19A", "MONDO:0014232": "craniosynostosis 5, susceptibility to", "MONDO:0014233": "early-onset Parkinson disease 20", "MONDO:0014235": "chromosome 22q13 duplication syndrome", "MONDO:0014236": "Ehlers-Danlos syndrome, musculocontractural type 2", "MONDO:0014237": "autosomal recessive nonsyndromic deafness 76", "MONDO:0014239": "testicular anomalies with or without congenital heart disease", "MONDO:0014240": "periventricular nodular heterotopia 6", "MONDO:0014241": "leukemia, acute lymphoblastic, susceptibility to, 3", "MONDO:0014242": "van Maldergem syndrome 2", "MONDO:0014245": "Diamond-Blackfan anemia 12", "MONDO:0014246": "episodic pain syndrome, familial, 2", "MONDO:0014251": "melioidosis, susceptibility to", "MONDO:0014252": "familial hypobetalipoproteinemia 1", "MONDO:0014254": "otofaciocervical syndrome 2", "MONDO:0014255": "complement factor b deficiency", "MONDO:0014256": "retinitis pigmentosa 67", "MONDO:0014257": "nephrotic syndrome, type 9", "MONDO:0014259": "neuronopathy, distal hereditary motor, type 2D", "MONDO:0014260": "immunodeficiency, common variable, 10", "MONDO:0014262": "Rienhoff syndrome", "MONDO:0014264": "OTSC10", "MONDO:0014265": "Alzheimer disease 18", "MONDO:0014266": "age related macular degeneration 15", "MONDO:0014275": "Fanconi renotubular syndrome 3", "MONDO:0014277": "DDH2", "MONDO:0014278": "immunodeficiency 18", "MONDO:0014280": "immunodeficiency 19", "MONDO:0014281": "cholangiocarcinoma, susceptibility to", "MONDO:0014283": "autosomal dominant nonsyndromic deafness 56", "MONDO:0014284": "short-rib thoracic dysplasia 10 with or without polydactyly", "MONDO:0014285": "congenital dyserythropoietic anemia type type 1B", "MONDO:0014286": "neuropathy, hereditary sensory, type 1F", "MONDO:0014287": "short-rib thoracic dysplasia 11 with or without polydactyly", "MONDO:0014288": "Joubert syndrome 21", "MONDO:0014291": "autosomal dominant nonsyndromic deafness 54", "MONDO:0014293": "autosomal dominant nonsyndromic deafness 58", "MONDO:0014296": "Warburg micro syndrome 4", "MONDO:0014297": "Joubert syndrome 22", "MONDO:0014299": "schwannomatosis 2", "MONDO:0014301": "DDD3", "MONDO:0014307": "Dowling-Degos disease 4", "MONDO:0014308": "familial temporal lobe epilepsy 6", "MONDO:0014312": "auriculocondylar syndrome 3", "MONDO:0014316": "Alzheimer disease 19", "MONDO:0014318": "hyperphosphatasia with intellectual disability syndrome 4", "MONDO:0014319": "renal hypodysplasia/aplasia 2", "MONDO:0014321": "premature ovarian failure 8", "MONDO:0014322": "premature ovarian failure 9", "MONDO:0014323": "retinitis pigmentosa 68", "MONDO:0014324": "pachyonychia congenita 3", "MONDO:0014325": "pachyonychia congenita 4", "MONDO:0014326": "nemaline myopathy 9", "MONDO:0014328": "epileptic encephalopathy, early infantile, 19", "MONDO:0014329": "atrial standstill 2", "MONDO:0014330": "eculizumab, poor response to", "MONDO:0014333": "polymicrogyria, bilateral perisylvian, autosomal recessive", "MONDO:0014337": "complex cortical dysplasia with other brain malformations 5", "MONDO:0014340": "atrial fibrillation, familial, 15", "MONDO:0014341": "complex cortical dysplasia with other brain malformations 6", "MONDO:0014343": "Desbuquois dysplasia 2", "MONDO:0014344": "congenital heart defects, multiple types, 4", "MONDO:0014345": "retinitis pigmentosa 69", "MONDO:0014346": "white sponge nevus 2", "MONDO:0014347": "short stature with microcephaly and distinctive facies", "MONDO:0014348": "intellectual disability, autosomal recessive 42", "MONDO:0014350": "Seckel syndrome 8", "MONDO:0014352": "abdominal obesity-metabolic syndrome 3", "MONDO:0014354": "intellectual disability, autosomal recessive 43", "MONDO:0014356": "mitochondrial complex III deficiency nuclear type 7", "MONDO:0014357": "intellectual disability, autosomal dominant 24", "MONDO:0014359": "pigmented nodular adrenocortical disease, primary, 4", "MONDO:0014360": "epileptic encephalopathy, early infantile, 21", "MONDO:0014362": "chromosome 16 inversion, 0.45-Mb", "MONDO:0014363": "autosomal recessive nonsyndromic deafness 101", "MONDO:0014364": "mitochondrial complex III deficiency nuclear type 8", "MONDO:0014365": "spermatogenic failure 13", "MONDO:0014366": "spermatogenic failure 14", "MONDO:0014367": "Aicardi-Goutieres syndrome 7", "MONDO:0014368": "melanoma, cutaneous malignant, susceptibility to, 10", "MONDO:0014370": "pontocerebellar hypoplasia type 2E", "MONDO:0014372": "cone-rod dystrophy 19", "MONDO:0014373": "nephrotic syndrome, type 10", "MONDO:0014374": "nephronophthisis 18", "MONDO:0014376": "intellectual disability, autosomal dominant 27", "MONDO:0014377": "epileptic encephalopathy, early infantile, 24", "MONDO:0014378": "primary ciliary dyskinesia 29", "MONDO:0014383": "myopathy, tubular aggregate, 2", "MONDO:0014384": "hypotrichosis 12", "MONDO:0014385": "amelogenesis imperfecta hypomaturation type 2A5", "MONDO:0014387": "leukoencephalopathy, progressive, with ovarian failure", "MONDO:0014390": "hypotrichosis 13", "MONDO:0014392": "epileptic encephalopathy, early infantile, 25", "MONDO:0014393": "lymphedema, hereditary, 1D", "MONDO:0014394": "Diamond-Blackfan anemia 13", "MONDO:0014395": "FTDALS2", "MONDO:0014396": "dilated cardiomyopathy 1NN", "MONDO:0014400": "retinitis pigmentosa 70", "MONDO:0014406": "pancreatic agenesis 2", "MONDO:0014407": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "MONDO:0014408": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3", "MONDO:0014409": "intellectual disability, autosomal recessive 44", "MONDO:0014411": "myopia 24, autosomal dominant", "MONDO:0014415": "kallikrein, decreased urinary activity of", "MONDO:0014416": "ACTH-independent macronodular adrenal hyperplasia 2", "MONDO:0014418": "myopathy, centronuclear, 5", "MONDO:0014422": "vesicoureteral reflux 8", "MONDO:0014426": "nanophthalmos 4", "MONDO:0014427": "cone-rod dystrophy 20", "MONDO:0014428": "autosomal recessive nonsyndromic deafness 102", "MONDO:0014430": "intellectual disability, autosomal recessive 45", "MONDO:0014432": "Bardet-Biedl syndrome 2", "MONDO:0014433": "Bardet-Biedl syndrome 4", "MONDO:0014434": "Bardet-Biedl syndrome 5", "MONDO:0014435": "Bardet-Biedl syndrome 7", "MONDO:0014436": "Bardet-Biedl syndrome 8", "MONDO:0014437": "Bardet-Biedl syndrome 9", "MONDO:0014438": "Bardet-Biedl syndrome 10", "MONDO:0014439": "Bardet-Biedl syndrome 11", "MONDO:0014440": "Bardet-Biedl syndrome 12", "MONDO:0014441": "Bardet-Biedl syndrome 13", "MONDO:0014442": "Bardet-Biedl syndrome 14", "MONDO:0014443": "Bardet-Biedl syndrome 15", "MONDO:0014444": "Bardet-Biedl syndrome 16", "MONDO:0014445": "Bardet-Biedl syndrome 17", "MONDO:0014446": "Bardet-Biedl syndrome 18", "MONDO:0014447": "Bardet-Biedl syndrome 19", "MONDO:0014450": "breasts and/or nipples, aplasia or hypoplasia of, 2", "MONDO:0014451": "focal segmental glomerulosclerosis 7", "MONDO:0014453": "immunodeficiency 36", "MONDO:0014454": "Hennekam lymphangiectasia-lymphedema syndrome 2", "MONDO:0014457": "hyperphosphatasia with intellectual disability syndrome 5", "MONDO:0014458": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young", "MONDO:0014459": "Adams-Oliver syndrome 5", "MONDO:0014461": "hypogonadotropic hypogonadism 22 with or without anosmia", "MONDO:0014462": "focal segmental glomerulosclerosis 8", "MONDO:0014465": "primary ciliary dyskinesia 30", "MONDO:0014468": "congenital myasthenic syndrome 7", "MONDO:0014469": "autosomal recessive nonsyndromic deafness 103", "MONDO:0014470": "autosomal dominant nonsyndromic deafness 65", "MONDO:0014473": "microcephaly 13, primary, autosomal recessive", "MONDO:0014477": "epileptic encephalopathy, early infantile, 26", "MONDO:0014478": "mirror movements 3", "MONDO:0014479": "porokeratosis 8, disseminated superficial actinic type", "MONDO:0014480": "46,XY sex reversal 9", "MONDO:0014481": "inflammatory skin and bowel disease, neonatal, 2", "MONDO:0014482": "intellectual disability, autosomal dominant 29", "MONDO:0014484": "microcephaly 12, primary, autosomal recessive", "MONDO:0014485": "pontocerebellar hypoplasia, type 1C", "MONDO:0014486": "intellectual disability, autosomal dominant 30", "MONDO:0014488": "diabetes mellitus, noninsulin-dependent, 5", "MONDO:0014491": "immunodeficiency 37", "MONDO:0014494": "psoriasis 15, pustular, susceptibility to", "MONDO:0014496": "mitochondrial complex III deficiency nuclear type 9", "MONDO:0014499": "intellectual disability, autosomal recessive 46", "MONDO:0014501": "macular degeneration, early-onset", "MONDO:0014504": "Perrault syndrome 5", "MONDO:0014505": "epileptic encephalopathy, early infantile, 27", "MONDO:0014508": "vitelliform macular dystrophy 4", "MONDO:0014509": "vitelliform macular dystrophy 5", "MONDO:0014513": "nemaline myopathy 10", "MONDO:0014514": "aortic aneurysm, familial thoracic 9", "MONDO:0014515": "macular dystrophy with central cone involvement", "MONDO:0014516": "microcephaly and chorioretinopathy 2", "MONDO:0014517": "generalized epilepsy with febrile seizures plus, type 9", "MONDO:0014519": "chronic mountain sickness, susceptibility to", "MONDO:0014522": "retinal dystrophy and obesity", "MONDO:0014524": "intellectual disability, autosomal recessive 47", "MONDO:0014531": "amyotrohpic lateral sclerosis type 22", "MONDO:0014533": "epileptic encephalopathy, early infantile, 28", "MONDO:0014534": "lissencephaly 6 with microcephaly", "MONDO:0014535": "hyperproinsulinemia", "MONDO:0014536": "thrombocytopenia 5", "MONDO:0014537": "nephronophthisis 19", "MONDO:0014538": "fibrosis of extraocular muscles, congenital, 5", "MONDO:0014539": "focal segmental glomerulosclerosis 9", "MONDO:0014540": "amelogenesis imperfecta type 1H", "MONDO:0014542": "congenital myasthenic syndrome 15", "MONDO:0014543": "congenital myasthenic syndrome 14", "MONDO:0014544": "osteogenesis imperfecta type 16", "MONDO:0014548": "long QT syndrome 14", "MONDO:0014549": "lethal congenital contracture syndrome 6", "MONDO:0014550": "long QT syndrome 15", "MONDO:0014551": "short stature with nonspecific skeletal abnormalities", "MONDO:0014553": "Tenorio syndrome", "MONDO:0014560": "amelogenesis imperfecta type 1F", "MONDO:0014564": "congenital bile acid synthesis defect 5", "MONDO:0014565": "cataract 43", "MONDO:0014569": "lethal congenital contracture syndrome 7", "MONDO:0014570": "lethal congenital contracture syndrome 8", "MONDO:0014571": "optic atrophy 9", "MONDO:0014573": "Cole-Carpenter syndrome 2", "MONDO:0014575": "Singleton-Merten syndrome 2", "MONDO:0014577": "short-rib thoracic dysplasia 13 with or without polydactyly", "MONDO:0014578": "congenital myasthenic syndrome 17", "MONDO:0014579": "Senior-Loken syndrome 8", "MONDO:0014580": "intellectual disability, autosomal dominant 33", "MONDO:0014581": "congenital myasthenic syndrome 2A", "MONDO:0014582": "congenital myasthenic syndrome 2C", "MONDO:0014583": "congenital myasthenic syndrome 3A", "MONDO:0014584": "congenital myasthenic syndrome 3B", "MONDO:0014585": "congenital myasthenic syndrome 3C", "MONDO:0014586": "congenital myasthenic syndrome 4B", "MONDO:0014587": "congenital myasthenic syndrome 9", "MONDO:0014588": "congenital myasthenic syndrome 11", "MONDO:0014589": "maturity-onset diabetes of the young type 13", "MONDO:0014590": "congenital myasthenic syndrome 18", "MONDO:0014591": "autosomal dominant Robinow syndrome 2", "MONDO:0014592": "microcephaly and chorioretinopathy 3", "MONDO:0014593": "epileptic encephalopathy, early infantile, 29", "MONDO:0014594": "autosomal dominant nonsyndromic deafness 67", "MONDO:0014595": "epileptic encephalopathy, early infantile, 30", "MONDO:0014596": "lissencephaly 7 with cerebellar hypoplasia", "MONDO:0014598": "epileptic encephalopathy, early infantile, 31", "MONDO:0014599": "intellectual disability, autosomal dominant 34", "MONDO:0014600": "dyskeratosis congenita, autosomal recessive 6", "MONDO:0014603": "autosomal dominant nonsyndromic deafness 40", "MONDO:0014604": "Parkinson disease 21", "MONDO:0014607": "epileptic encephalopathy, early infantile, 32", "MONDO:0014612": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4", "MONDO:0014613": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "MONDO:0014614": "congenital stationary night blindness 1G", "MONDO:0014615": "trichothiodystrophy 2, photosensitive", "MONDO:0014616": "Skint1-like pseudogene", "MONDO:0014617": "intellectual disability, autosomal dominant 38", "MONDO:0014618": "retinitis pigmentosa 71", "MONDO:0014619": "trichothiodystrophy 3, photosensitive", "MONDO:0014620": "myoclonic dystonia 26", "MONDO:0014621": "Brugada syndrome 9", "MONDO:0014623": "microcephaly 14, primary, autosomal recessive", "MONDO:0014624": "Brown syndrome", "MONDO:0014625": "epileptic encephalopathy, early infantile, 33", "MONDO:0014628": "basal ganglia calcification, idiopathic, 6", "MONDO:0014632": "hypomyelinating leukodystrophy 10", "MONDO:0014634": "46,XY sex reversal 10", "MONDO:0014635": "microphthalmia, isolated, with coloboma 10", "MONDO:0014638": "Fanconi anemia complementation group T", "MONDO:0014639": "familial temporal lobe epilepsy 7", "MONDO:0014640": "FTDALS3", "MONDO:0014641": "FTDALS4", "MONDO:0014642": "candidiasis, familial, 9", "MONDO:0014646": "Zimmermann-Laband syndrome 2", "MONDO:0014648": "Al-Raqad syndrome", "MONDO:0014649": "intellectual disability, autosomal recessive 50", "MONDO:0014650": "familial temporal lobe epilepsy 8", "MONDO:0014651": "acrofacial dysostosis Cincinnati type", "MONDO:0014652": "exudative vitreoretinopathy 6", "MONDO:0014653": "retinitis pigmentosa 72", "MONDO:0014654": "Ullrich congenital muscular dystrophy 2", "MONDO:0014656": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2", "MONDO:0014657": "primary ciliary dyskinesia 32", "MONDO:0014659": "fever-associated acute infantile liver failure syndrome", "MONDO:0014660": "microcephaly 15, primary, autosomal recessive", "MONDO:0014661": "epidermolysis bullosa simplex with nail dystrophy", "MONDO:0014663": "growth restriction, severe, with distinctive facies", "MONDO:0014664": "Joubert syndrome 23", "MONDO:0014666": "hypomyelinating leukodystrophy 11", "MONDO:0014667": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3", "MONDO:0014668": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4", "MONDO:0014669": "cone-rod dystrophy 21", "MONDO:0014670": "lethal congenital contracture syndrome 9", "MONDO:0014671": "neuropathy, hereditary motor and sensory, type 6B", "MONDO:0014672": "osteogenesis imperfecta type 17", "MONDO:0014673": "cataract 44", "MONDO:0014674": "maturity-onset diabetes of the young type 14", "MONDO:0014675": "autosomal recessive nonsyndromic deafness 104", "MONDO:0014676": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "MONDO:0014677": "achromatopsia 7", "MONDO:0014678": "intellectual disability, autosomal dominant 39", "MONDO:0014679": "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis", "MONDO:0014680": "herpes simplex encephalitis, susceptibility to, 7", "MONDO:0014681": "thyroid cancer, nonmedullary, 4", "MONDO:0014682": "thyroid cancer, nonmedullary, 5", "MONDO:0014683": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "MONDO:0014686": "short stature, microcephaly, and endocrine dysfunction", "MONDO:0014687": "retinitis pigmentosa 73", "MONDO:0014688": "short-rib thoracic dysplasia 14 with polydactyly", "MONDO:0014690": "dyskeratosis congenita, autosomal dominant 6", "MONDO:0014691": "Noonan syndrome 9", "MONDO:0014692": "retinitis pigmentosa 74", "MONDO:0014693": "Noonan syndrome 10", "MONDO:0014694": "spondylocostal dysostosis 6, autosomal recessive", "MONDO:0014696": "cerebrooculofacioskeletal syndrome 3", "MONDO:0014697": "immunodeficiency, common variable, 12", "MONDO:0014699": "intellectual disability, autosomal dominant 40", "MONDO:0014703": "Adams-Oliver syndrome 6", "MONDO:0014706": "cutis laxa, autosomal dominant 3", "MONDO:0014709": "Heimler syndrome 2", "MONDO:0014712": "Senior-Loken syndrome 9", "MONDO:0014713": "porokeratosis 9, multiple types", "MONDO:0014718": "epileptic encephalopathy, early infantile, 34", "MONDO:0014724": "Joubert syndrome 24", "MONDO:0014727": "immunodeficiency 45", "MONDO:0014730": "microcephaly 16, primary, autosomal recessive", "MONDO:0014734": "epilepsy, idiopathic generalized, susceptibility to, 14", "MONDO:0014737": "dehydrated hereditary stomatocytosis 2", "MONDO:0014738": "autosomal dominant nonsyndromic deafness 69", "MONDO:0014739": "autosomal recessive nonsyndromic deafness 97", "MONDO:0014740": "autosomal dominant nonsyndromic deafness 68", "MONDO:0014742": "Parkinson disease 22, autosomal dominant", "MONDO:0014745": "congenital myasthenic syndrome 19", "MONDO:0014749": "tooth agenesis, selective, 7", "MONDO:0014750": "primary ciliary dyskinesia 33", "MONDO:0014752": "nephrotic syndrome, type 11", "MONDO:0014754": "primary coenzyme Q10 deficiency 8", "MONDO:0014755": "skin creases, congenital symmetric circumferential, 2", "MONDO:0014756": "tremor, hereditary essential, 5", "MONDO:0014758": "radioulnar synostosis with amegakaryocytic thrombocytopenia 2", "MONDO:0014759": "intellectual disability, autosomal recessive 51", "MONDO:0014762": "heterotaxy, visceral, 7, autosomal", "MONDO:0014763": "Bombay phenotype", "MONDO:0014765": "woolly hair, autosomal recessive 3", "MONDO:0014766": "leukodystrophy and acquired microcephaly with or without dystonia;", "MONDO:0014767": "Seckel syndrome 9", "MONDO:0014768": "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2", "MONDO:0014770": "Joubert syndrome 25", "MONDO:0014771": "Joubert syndrome 26", "MONDO:0014772": "orofacial cleft 15", "MONDO:0014774": "neuroblastoma, susceptibility to, 7", "MONDO:0014777": "hypotonia, infantile, with psychomotor retardation and characteristic facies 2", "MONDO:0014779": "Wilms tumor 6", "MONDO:0014780": "hyperphosphatasia with intellectual disability syndrome 6", "MONDO:0014783": "preimplantation embryonic lethality 1", "MONDO:0014785": "microcephaly, short stature, and impaired glucose metabolism 2", "MONDO:0014786": "IgA nephropathy, susceptibility to, 3", "MONDO:0014792": "Paget disease of bone 6", "MONDO:0014794": "Meier-Gorlin syndrome 6", "MONDO:0014795": "exercise intolerance, riboflavin-responsive", "MONDO:0014796": "autosomal recessive early-onset Parksinson disease 23", "MONDO:0014798": "brachydactyly type A1D", "MONDO:0014799": "cataract 45", "MONDO:0014802": "Cowden syndrome 7", "MONDO:0014806": "spinal muscular atrophy with congenital bone fractures 1", "MONDO:0014807": "spinal muscular atrophy with congenital bone fractures 2", "MONDO:0014808": "congenital secretory sodium diarrhea 8", "MONDO:0014811": "cerebellar atrophy, visual impairment, and psychomotor retardation;", "MONDO:0014813": "hypomyelinating leukodystrophy 13", "MONDO:0014814": "advanced sleep phase syndrome 3", "MONDO:0014815": "intellectual disability, autosomal recessive 52", "MONDO:0014817": "nephrotic syndrome, type 12", "MONDO:0014818": "nephrotic syndrome, type 13", "MONDO:0014819": "autosomal dominant Robinow syndrome 3", "MONDO:0014820": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)", "MONDO:0014825": "chromosome 11p13 deletion syndrome, distal", "MONDO:0014826": "nucleoside diphosphate-linked moiety X Motif 15 deficiency", "MONDO:0014828": "immunodeficiency-centromeric instability-facial anomalies syndrome 3", "MONDO:0014829": "immunodeficiency-centromeric instability-facial anomalies syndrome 4", "MONDO:0014833": "heart and brain malformation syndrome", "MONDO:0014835": "striatal degeneration, autosomal dominant 2", "MONDO:0014836": "Charcot-Marie-Tooth disease axonal type 2CC", "MONDO:0014838": "Coffin-Siris syndrome 5", "MONDO:0014839": "chorea, childhood-onset, with psychomotor retardation", "MONDO:0014840": "agammaglobulinemia 8, autosomal dominant", "MONDO:0014841": "trichothiodystrophy 6, nonphotosensitive", "MONDO:0014842": "intellectual disability, autosomal dominant 41", "MONDO:0014843": "premature ovarian failure 11", "MONDO:0014844": "premature ovarian failure 12", "MONDO:0014845": "spinocerebellar ataxia, autosomal recessive 22", "MONDO:0014847": "spermatogenic failure 15", "MONDO:0014849": "autosomal recessive nonsyndromic deafness 105", "MONDO:0014850": "retinitis pigmentosa and erythrocytic microcytosis", "MONDO:0014851": "hypercalcemia, infantile 2", "MONDO:0014853": "autosomal dominant nonsyndromic deafness 70", "MONDO:0014854": "autosomal dominant nonsyndromic deafness 66", "MONDO:0014858": "intellectual disability, autosomal dominant 43", "MONDO:0014859": "epileptic encephalopathy, early infantile, 37", "MONDO:0014860": "polycystic liver disease 2", "MONDO:0014861": "autoimmune disease, multisystem, infantile-onset, 2", "MONDO:0014862": "cerebral palsy, spastic quadriplegic, 3", "MONDO:0014863": "macrocephaly, dysmorphic facies, and psychomotor retardation", "MONDO:0014868": "epileptic encephalopathy, early infantile, 38", "MONDO:0014871": "retinitis pigmentosa 75", "MONDO:0014872": "congenital stationary night blindness 1H", "MONDO:0014874": "pontocerebellar hypoplasia, type 2F", "MONDO:0014876": "intellectual disability, autosomal recessive 54", "MONDO:0014878": "patent ductus arteriosus 2", "MONDO:0014880": "Duane retraction syndrome 3 with or without deafness", "MONDO:0014883": "hypertrophic cardiomyopathy 26", "MONDO:0014887": "bone marrow failure syndrome 3", "MONDO:0014891": "hyperuricemic nephropathy, familial juvenile type 4", "MONDO:0014893": "Okur-Chung neurodevelopmental syndrome", "MONDO:0014894": "Meier-Gorlin syndrome 7", "MONDO:0014895": "epileptic encephalopathy, early infantile, 40", "MONDO:0014898": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3", "MONDO:0014901": "tooth agenesis, selective, 8", "MONDO:0014902": "nasopharyngeal carcinoma, susceptibility to, 3", "MONDO:0014903": "seizures, benign familial infantile, 5", "MONDO:0014904": "congenital disorder of glycosylation, type IAA", "MONDO:0014906": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;", "MONDO:0014907": "short-rib thoracic dysplasia 15 with polydactyly", "MONDO:0014908": "microcephaly 17, primary, autosomal recessive", "MONDO:0014909": "primary ciliary dyskinesia 34", "MONDO:0014910": "primary ciliary dyskinesia 35", "MONDO:0014914": "Dias-Logan syndrome", "MONDO:0014915": "short-rib thoracic dysplasia 16 with or without polydactyly", "MONDO:0014916": "epileptic encephalopathy, early infantile, 41", "MONDO:0014917": "epileptic encephalopathy, early infantile, 42", "MONDO:0014919": "sessile serrated polyposis cancer syndrome", "MONDO:0014921": "epileptic encephalopathy, early infantile, 43", "MONDO:0014922": "myofibrillar myopathy 7", "MONDO:0014923": "peeling skin syndrome 5", "MONDO:0014924": "epilepsy, familial focal, with variable foci 2", "MONDO:0014925": "epilepsy, familial focal, with variable foci 3", "MONDO:0014926": "Bardet-Biedl syndrome 20", "MONDO:0014927": "Joubert syndrome 27", "MONDO:0014928": "Joubert syndrome 28", "MONDO:0014929": "retinitis pigmentosa 76", "MONDO:0014930": "intellectual disability, autosomal recessive 56", "MONDO:0014931": "Alazami-Yuan syndrome", "MONDO:0014932": "orofaciodigital syndrome XV", "MONDO:0014933": "epileptic encephalopathy, early infantile, 44", "MONDO:0014934": "spinocerebellar ataxia, autosomal recessive 24", "MONDO:0014935": "frontometaphyseal dysplasia 2", "MONDO:0014937": "aniridia 2", "MONDO:0014938": "aniridia 3", "MONDO:0014939": "congenital myasthenic syndrome 20", "MONDO:0014940": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset", "MONDO:0014941": "arthrogryposis, distal, with impaired proprioception and touch", "MONDO:0014942": "epileptic encephalopathy, early infantile, 45", "MONDO:0014943": "mitochondrial DNA depletion syndrome 15 (hepatocerebral type);", "MONDO:0014945": "myopathy, distal, with rimmed vacuoles", "MONDO:0014947": "epileptic encephalopathy, early infantile, 46", "MONDO:0014949": "epileptic encephalopathy, early infantile, 47", "MONDO:0014950": "aortic aneurysm, familial thoracic 10", "MONDO:0014951": "Sotos syndrome 3", "MONDO:0014954": "Ehlers-Danlos syndrome, periodontal type 2", "MONDO:0014955": "retinal dystrophy with or without extraocular anomalies", "MONDO:0014956": "Chitayat syndrome", "MONDO:0014957": "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia", "MONDO:0014959": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant", "MONDO:0014961": "spermatogenic failure 16", "MONDO:0014962": "intellectual disability, autosomal recessive 57", "MONDO:0014963": "Shashi-Pena syndrome", "MONDO:0014965": "lethal congenital contracture syndrome 11", "MONDO:0014966": "periventricular nodular heterotopia 7", "MONDO:0014967": "heterotaxy, visceral, 8, autosomal", "MONDO:0014968": "encephalopathy, progressive, with amyotrophy and optic atrophy", "MONDO:0014970": "spermatogenic failure 17", "MONDO:0014971": "amelogenesis imperfecta, hypomaturation type, IIa6", "MONDO:0014972": "chromosome 19q13.11 deletion syndrome, proximal", "MONDO:0014973": "sudden cardiac failure, infantile", "MONDO:0014974": "sudden cardiac failure, alcohol-induced", "MONDO:0014978": "preimplantation embryonic lethality 2", "MONDO:0014979": "myoclonus, intractable, neonatal", "MONDO:0014981": "immunodeficiency 49", "MONDO:0014982": "myopia 25, autosomal dominant", "MONDO:0014983": "congenital myasthenic syndrome 21", "MONDO:0014984": "lung disease, immunodeficiency, and chromosome breakage syndrome;", "MONDO:0014985": "Fanconi anemia complementation group v", "MONDO:0014986": "Fanconi anemia complementation group r", "MONDO:0014987": "Fanconi anemia complementation group U", "MONDO:0014989": "uncombable hair syndrome 2", "MONDO:0014990": "uncombable hair syndrome 3", "MONDO:0014991": "Seckel syndrome 10", "MONDO:0014992": "lissencephaly 8", "MONDO:0014993": "myofibrillar myopathy 8", "MONDO:0014994": "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies", "MONDO:0014995": "neurodevelopmental disorder with hypotonia, seizures, and absent language", "MONDO:0014996": "intellectual disability, autosomal recessive 58", "MONDO:0014997": "nephronophthisis 20", "MONDO:0014998": "glaucoma 3, primary congenital, E", "MONDO:0014999": "tooth agenesis, selective, 9", "MONDO:0015000": "epileptic encephalopathy, early infantile, 48", "MONDO:0015001": "atrial fibrillation, familial, 18", "MONDO:0015002": "epileptic encephalopathy, early infantile, 49", "MONDO:0015005": "epilepsy, early-onset, vitamin B6-dependent", "MONDO:0015008": "amelogenesis imperfecta, type 1J", "MONDO:0015009": "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to", "MONDO:0015011": "optic atrophy 11", "MONDO:0015013": "retinitis pigmentosa 77", "MONDO:0015015": "congenital bile acid synthesis defect 6", "MONDO:0015016": "anterior segment dysgenesis 6", "MONDO:0015018": "ichthyosis, congenital, autosomal recessive 12", "MONDO:0015019": "susceptibility to Yao syndrome", "MONDO:0015020": "intellectual disability, autosomal recessive 59", "MONDO:0015022": "intellectual developmental disorder with dysmorphic facies and ptosis", "MONDO:0015023": "nemaline myopathy 11", "MONDO:0015024": "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type", "MONDO:0015025": "epileptic encephalopathy, early infantile, 51", "MONDO:0015026": "cerebroretinal microangiopathy with calcifications and cysts 2;", "MONDO:0015353": "distal hereditary motor neuropathy type 5", "MONDO:0019073": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "MONDO:0020602": "Simpson-Golabi-Behmel syndrome type 1", "MONDO:0020607": "Liddle syndrome 1", "MONDO:0020608": "obsolete blood group--ahonen", "MONDO:0020609": "obsolete blood group, colton system", "MONDO:0020610": "obsolete blood group, diego system", "MONDO:0020611": "obsolete blood group--kell system", "MONDO:0020612": "obsolete blood group, kidd system", "MONDO:0020613": "obsolete blood group--lke", "MONDO:0020614": "obsolete blood group--lutheran system", "MONDO:0020615": "obsolete blood group system, landsteiner-wiener", "MONDO:0020616": "obsolete blood group, mn", "MONDO:0020617": "obsolete blood group--ok", "MONDO:0020618": "obsolete blood group--private systems", "MONDO:0020619": "obsolete blood group, langereis system", "MONDO:0020620": "obsolete blood group, ss", "MONDO:0020621": "obsolete blood group--scianna system", "MONDO:0020622": "obsolete blood group--stoltzfus system", "MONDO:0020623": "obsolete blood group--ul system", "MONDO:0020624": "obsolete blood group--waldner type", "MONDO:0020625": "obsolete blood group--wright antigen", "MONDO:0020626": "obsolete yt blood group antigen", "MONDO:0020628": "microcephaly, growth restriction, and increased sister chromatid exchange 2", "MONDO:0020630": "epileptic encephalopathy, infantile or early childhood, 1", "MONDO:0020631": "epileptic encephalopathy, infantile or early childhood, 2", "MONDO:0020632": "epileptic encephalopathy, infantile or early childhood, 3", "MONDO:0020647": "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome", "MONDO:0020668": "obsolete spastic paraplegia 5B", "MONDO:0020671": "susceptibility to ischemic stroke", "MONDO:0020681": "Ehlers-Danlos syndrome, musculocontractural type 1", "MONDO:0020682": "Ehlers-Danlos syndrome, progeroid type 1", "MONDO:0020684": "Ehlers-Danlos syndrome, periodontal type 1", "MONDO:0020692": "spondylocostal dysostosis 1, autosomal recessive", "MONDO:0020705": "neural tube defects, susceptibility to", "MONDO:0020712": "46,XY sex reversal 1", "MONDO:0020713": "pulmonary venoocclusive disease 1", "MONDO:0020714": "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy", "MONDO:0020715": "multiple system atrophy 1, susceptibility to", "MONDO:0020716": "familial thyroid dyshormonogenesis 1", "MONDO:0020717": "autosomal dominant woolly hair", "MONDO:0020718": "congenital short bowel syndrome 1", "MONDO:0020722": "nephrolithiasis susceptibility caused by SLC26A1", "MONDO:0020723": "vitamin D-dependent rickets, type 1A", "MONDO:0020724": "familial cerebral cavernous malformation 1", "MONDO:0020727": "combined oxidative phosphorylation deficiency 22", "MONDO:0020728": "hypouricemia, renal 1", "MONDO:0020729": "autosomal recessive agammaglobulinemia 1", "MONDO:0020730": "carpal tunnel syndrome 1", "MONDO:0020733": "proximal symphalangism 1A", "MONDO:0020734": "erythrocyte AMP deaminase deficiency", "MONDO:0020735": "ACTH-independent macronodular adrenal hyperplasia 1", "MONDO:0020736": "uncombable hair syndrome 1", "MONDO:0020737": "optic atrophy 10 with or without ataxia, mental retardation, and seizures", "MONDO:0020738": "multiple benign circumferential skin creases on limbs 1", "MONDO:0020739": "autosomal recessive infantile hypercalcemia 1", "MONDO:0020740": "ectodermal dysplasia and immunodeficiency 1", "MONDO:0020741": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant", "MONDO:0020745": "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome", "MONDO:0020746": "contractures, pterygia, and variable skeletal fusions syndrome 1B", "MONDO:0020747": "sitosterolemia 1", "MONDO:0020748": "sitosterolemia 2", "MONDO:0020749": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1", "MONDO:0020750": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2", "MONDO:0020751": "orthostatic hypotension 2", "MONDO:0020754": "visceral myopathy 1", "MONDO:0020756": "migraine, familial hemiplegic, 1", "MONDO:0020759": "epilepsy, childhood absence, susceptibility to, 1", "MONDO:0020762": "diencephalic-mesencephalic junction dysplasia syndrome 2", "MONDO:0020763": "Menke-Hennekam syndrome 1", "MONDO:0020765": "neuropathy, congenital hypomyelinating, 2", "MONDO:0020766": "neuropathy, congenital hypomyelinating, 3", "MONDO:0020769": "Menke-Hennekam syndrome 2", "MONDO:0020770": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3", "MONDO:0020772": "epilepsy, juvenile absence, susceptibility to, 1", "MONDO:0020775": "congenital disorder of glycosylation with defective fucosylation 1", "MONDO:0020777": "congenital disorder of glycosylation with defective fucosylation 2", "MONDO:0020778": "cone-rod dystrophy and hearing loss 1", "MONDO:0020780": "cone-rod dystrophy and hearing loss 2", "MONDO:0020784": "obsolete short sleep, familial natural, 1", "MONDO:0020785": "capillary malformation-arteriovenous malformation 2", "MONDO:0020786": "obsolete short sleep, familial natural, 2", "MONDO:0020787": "hypomagnesemia, seizures, and intellectual disability 1", "MONDO:0020788": "hypomagnesemia, seizures, and intellectual disability 2", "MONDO:0020789": "pseudo-TORCH syndrome 1", "MONDO:0020790": "gaze palsy, familial horizontal, with progressive scoliosis 1", "MONDO:0020791": "corneal dystrophy, Meesmann, 1", "MONDO:0020792": "dwarfism with tall vertebrae", "MONDO:0020793": "oculopharyngodistal myopathy 1", "MONDO:0020795": "Silver-Russell syndrome 5", "MONDO:0020796": "Silver-Russell syndrome 1", "MONDO:0020798": "hypoparathyroidism, familial isolated, 2", "MONDO:0020820": "distal arthrogryposis type 2B1", "MONDO:0020835": "methemoglobinemia, alpha type", "MONDO:0020837": "oocyte maturation defect 5", "MONDO:0020840": "pulmonary alveolar proteinosis with hypogammaglobulinemia", "MONDO:0020841": "neurodevelopmental disorder with cerebellar atrophy and with or without seizures", "MONDO:0020845": "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5", "MONDO:0020846": "mental retardation, autosomal recessive 64", "MONDO:0020847": "mental retardation, autosomal dominant 58", "MONDO:0020848": "osteopetrosis, autosomal dominant 3", "MONDO:0020849": "immunodeficiency 57", "MONDO:0020850": "intellectual disability, autosomal recessive 65", "MONDO:0020851": "spermatogenic failure 30", "MONDO:0020852": "spermatogenic failure 31", "MONDO:0020853": "encephalitis/encephalopathy, mild, with reversible myelin vacuolization", "MONDO:0020854": "Liddle syndrome 2", "MONDO:0020855": "spermatogenic failure 32", "MONDO:0020856": "bone marrow failure syndrome 4", "MONDO:0020857": "ovarian dysgenesis 7", "MONDO:0020858": "mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5", "MONDO:0021003": "polydactyly (disease)", "MONDO:0021011": "hereditary progressive chorea without dementia", "MONDO:0021012": "susceptibility to visceral leishmaniasis, 1", "MONDO:0021021": "craniodiaphyseal dysplasia, autosomal dominant", "MONDO:0021024": "malaria, susceptibility to", "MONDO:0021025": "cirrhosis, familial, with antigenemia", "MONDO:0021035": "alopecia-intellectual disability syndrome 1", "MONDO:0021056": "familial adenomatous polyposis 1", "MONDO:0021083": "congenital fibrosis of extraocular muscles type 1", "MONDO:0021093": "cranioectodermal dysplasia 1", "MONDO:0021105": "NAFLD1", "MONDO:0021533": "intestinal neuroendocrine tumor G1", "MONDO:0021547": "amelogenesis imperfecta type 3B", "MONDO:0021571": "multiple sclerosis, susceptibility to 1", "MONDO:0021573": "oocyte maturation defect 2", "MONDO:0021574": "oocyte maturation defect 3", "MONDO:0021575": "oocyte maturation defect 4", "MONDO:0021582": "lentigo", "MONDO:0022109": "catatrichy", "MONDO:0022113": "central centrifugal cicatricial alopecia", "MONDO:0023655": "immunodeficiency 14b, autosomal recessive", "MONDO:0023657": "intellectual developmental disorder, autosomal dominant 65", "MONDO:0023659": "developmental and epileptic encephalopathy 96", "MONDO:0023660": "angioedema, hereditary, 6", "MONDO:0023662": "lymphatic malformation 10", "MONDO:0023664": "spermatogenic failure 54", "MONDO:0023670": "Bardet-Biedl syndrome 20", "MONDO:0023671": "oculopharyngodistal myopathy 3", "MONDO:0023691": "maple syrup urine disease type 1A", "MONDO:0023692": "maple syrup urine disease type 1B", "MONDO:0023693": "maple syrup urine disease type 2", "MONDO:0023807": "obsolete midphalangeal hair", "MONDO:0023873": "noonan-like/multiple giant cell lesion syndrome", "MONDO:0024264": "hypothyroidism, congenital, nongoitrous, 2", "MONDO:0024265": "Duane syndrome type 1", "MONDO:0024266": "patent ductus arteriosus 3", "MONDO:0024293": "polyposis, gastric, Dos Santos and de Magalhaes 1980", "MONDO:0024309": "neuropathy, hereditary sensory and autonomic, type 2A", "MONDO:0024455": "autosomal dominant Robinow syndrome 1", "MONDO:0024456": "anterior segment dysgenesis 3", "MONDO:0024463": "ovarian dysgenesis 1", "MONDO:0024464": "pituitary hormone deficiency, combined, 1", "MONDO:0024465": "surfactant metabolism dysfunction, pulmonary, 2", "MONDO:0024466": "facial paresis, hereditary congenital, 1", "MONDO:0024498": "glioma susceptibility 1", "MONDO:0024506": "Adams-Oliver syndrome 1", "MONDO:0024507": "aniridia 1", "MONDO:0024508": "epilepsy, hot water, 1", "MONDO:0024517": "schwannomatosis 1", "MONDO:0024519": "renal hypodysplasia/aplasia 1", "MONDO:0024520": "renal hypodysplasia/aplasia 3", "MONDO:0024521": "aortic aneurysm, familial abdominal, 1", "MONDO:0024522": "amyloidosis, primary localized cutaneous, 1", "MONDO:0024523": "aortic valve disease 1", "MONDO:0024524": "dyschromatosis universalis hereditaria 1", "MONDO:0024525": "FRTS1", "MONDO:0024526": "Zimmermann-Laband syndrome 1", "MONDO:0024527": "glomerulopathy with fibronectin deposits 1", "MONDO:0024528": "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1", "MONDO:0024529": "MVP1", "MONDO:0024530": "Bethlem myopathy 1", "MONDO:0024531": "myopathy, tubular aggregate, 1", "MONDO:0024532": "otofaciocervical syndrome 1", "MONDO:0024533": "pulmonary hypertension, primary, 1", "MONDO:0024534": "Dowling-Degos disease 1", "MONDO:0024535": "Singleton-Merten syndrome 1", "MONDO:0024536": "glucocorticoid deficiency 1", "MONDO:0024538": "basal ganglia calcification, idiopathic, 1", "MONDO:0024539": "choroidal dystrophy, central areolar, 1", "MONDO:0024540": "Jervell and Lange-Nielsen syndrome 1", "MONDO:0024541": "trichohepatoenteric syndrome 1", "MONDO:0024542": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1", "MONDO:0024543": "brittle cornea syndrome 1", "MONDO:0024544": "Heimler syndrome 1", "MONDO:0024545": "Miyoshi muscular dystrophy 1", "MONDO:0024546": "hypertrophic osteoarthropathy, primary, autosomal recessive, 1", "MONDO:0024547": "pancreatic agenesis 1", "MONDO:0024549": "MCOPCB1", "MONDO:0024550": "frontometaphyseal dysplasia 1", "MONDO:0024552": "linear skin defects with multiple congenital anomalies 1", "MONDO:0024553": "myopathy, lactic acidosis, and sideroblastic anemia 1", "MONDO:0024554": "D-2-hydroxyglutaric aciduria 1", "MONDO:0024555": "megalencephalic leukoencephalopathy with subcortical cysts 1", "MONDO:0024556": "epilepsy, familial focal, with variable foci 1", "MONDO:0024558": "radioulnar synostosis with amegakaryocytic thrombocytopenia 1", "MONDO:0024560": "PDA1", "MONDO:0024561": "vitelliform macular dystrophy 3", "MONDO:0024562": "sick sinus syndrome 1", "MONDO:0024563": "herpes simplex encephalitis, susceptibility to, 1", "MONDO:0024564": "cerebroretinal microangiopathy with calcifications and cysts 1", "MONDO:0024565": "ectodermal dysplasia-syndactyly syndrome 1", "MONDO:0024566": "febrile seizures, familial, 11", "MONDO:0024567": "hypotonia, infantile, with psychomotor retardation and characteristic facies 1", "MONDO:0024569": "optic atrophy 8", "MONDO:0024570": "hyperparathyroidism 4", "MONDO:0024633": "hypertensive renal disease", "MONDO:0024771": "myopathy, distal, 7, adult-onset, X-linked", "MONDO:0024772": "intellectual developmental disorder, X-linked, syndromic, Pilorge type", "MONDO:0024773": "spermatogenic failure, X-linked, 4", "MONDO:0024996": "obsolete Usher syndrome, type 2b", "MONDO:0025351": "multiple congenital anomalies-neurodevelopmental syndrome, X-linked", "MONDO:0025353": "developmental and epileptic encephalopathy, 90", "MONDO:0025354": "spermatogenic failure, X-linked, 3", "MONDO:0025356": "azoospermia, obstructive, with nephrolithiasis", "MONDO:0025622": "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1", "MONDO:0025690": "microcephaly, epilepsy, and diabetes syndrome 2", "MONDO:0025691": "dystonia 30", "MONDO:0025699": "Coffin-Siris syndrome 12", "MONDO:0025701": "leukodystrophy, hypomyelinating, 22", "MONDO:0025708": "megacystis-microcolon-intestinal hypoperistalsis syndrome 2", "MONDO:0025712": "angioedema, hereditary, 4", "MONDO:0025713": "angioedema, hereditary, 7", "MONDO:0026404": "X inactivation, familial skewed, 1", "MONDO:0026426": "X inactivation, familial skewed, 2", "MONDO:0026720": "mitochondrial complex 1 deficiency, nuclear type 12", "MONDO:0026721": "mitochondrial complex 1 deficiency, nuclear type 30", "MONDO:0026722": "Mullegama-Klein-Martinez syndrome", "MONDO:0026723": "intellectual developmental disorder, X-linked 108", "MONDO:0026724": "Paganini-Miozzo syndrome", "MONDO:0026726": "nephrotic syndrome, type 20", "MONDO:0026727": "Shukla-Vernon syndrome", "MONDO:0026729": "congenital disorder of glycosylation, type ICC", "MONDO:0026730": "Basilicata-Akhtar syndrome", "MONDO:0026731": "hypothyroidism, congenital, nongoitrous, 8", "MONDO:0026732": "hypothyroidism, congenital, nongoitrous, 9", "MONDO:0026733": "intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type", "MONDO:0026762": "Wieacker-Wolff syndrome, female-restricted", "MONDO:0026763": "holoprosencephaly 13, X-linked", "MONDO:0026765": "congenital disorder of glycosylation, type IIr", "MONDO:0026767": "immunodeficiency 74, COVID-19-related, X-linked", "MONDO:0026768": "obsolete warfarin sensitivity, X-linked", "MONDO:0026771": "developmental and epileptic encephalopathy, 85, with or without midline brain defects", "MONDO:0026856": "obsolete homosexuality 1", "MONDO:0027048": "deafness, Y-linked 2", "MONDO:0027068": "mitochondrial complex 1 deficiency, mitochondrial type 1", "MONDO:0027069": "mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1", "MONDO:0027407": "Kleefstra syndrome 1", "MONDO:0027416": "obsolete retinal cone dystrophy 2", "MONDO:0027451": "autosomal recessive cutis laxa type 2d", "MONDO:0027462": "autosomal recessive cutis laxa type 2c", "MONDO:0027676": "congenital anomalies of kidney and urinary tract type 2", "MONDO:0027694": "amyotrophic lateral sclerosis type 23", "MONDO:0029130": "polydactyly, postaxial, type A8", "MONDO:0029131": "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development", "MONDO:0029132": "Liddle syndrome 3", "MONDO:0029135": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8", "MONDO:0029137": "deafness, autosomal dominant 74", "MONDO:0029138": "epileptic encephalopathy, early infantile, 67", "MONDO:0029140": "glycosylphosphatidylinositol biosynthesis defect 18", "MONDO:0029141": "usher syndrome, type 4", "MONDO:0029142": "deafness, autosomal recessive 111", "MONDO:0029143": "intellectual developmental disorder with hypertelorism and distinctive facies", "MONDO:0029144": "extraoral halitosis due to methanethiol oxidase deficiency", "MONDO:0029145": "orofacial cleft 8", "MONDO:0029147": "spermatogenic failure 33", "MONDO:0029148": "spermatogenic failure 34", "MONDO:0029465": "intellectual developmental disorder, autosomal dominant 69", "MONDO:0030004": "autism, susceptibility to, 20", "MONDO:0030005": "epilepsy, early-onset, with or without developmental delay", "MONDO:0030007": "combined oxidative phosphorylation deficiency 41", "MONDO:0030008": "combined oxidative phosphorylation deficiency 42", "MONDO:0030009": "alopecia-intellectual disability syndrome 4", "MONDO:0030010": "hypogonadotropic hypogonadism 25 with anosmia", "MONDO:0030012": "Diets-Jongmans syndrome", "MONDO:0030013": "immunodeficiency 66", "MONDO:0030014": "muscular dystrophy, limb-girdle, autosomal recessive 26", "MONDO:0030015": "bone marrow failure syndrome 6", "MONDO:0030017": "combined oxidative phosphorylation deficiency 43", "MONDO:0030018": "autoinflammation with episodic fever and lymphadenopathy", "MONDO:0030019": "anauxetic dysplasia 3", "MONDO:0030020": "combined oxidative phosphorylation deficiency 44", "MONDO:0030024": "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities", "MONDO:0030025": "neurodevelopmental disorder with hypotonia, microcephaly, and seizures", "MONDO:0030026": "retinal dystrophy with leukodystrophy", "MONDO:0030027": "tremor, hereditary essential, 6", "MONDO:0030028": "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline", "MONDO:0030029": "skeletal dysplasia, mild, with joint laxity and advanced bone age", "MONDO:0030030": "Nizon-Isidor syndrome", "MONDO:0030031": "lissencephaly 10", "MONDO:0030033": "seizures, early-onset, with neurodegeneration and brain calcifications", "MONDO:0030034": "epilepsy, progressive myoclonic, 11", "MONDO:0030035": "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome", "MONDO:0030036": "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome", "MONDO:0030037": "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures", "MONDO:0030038": "hereditary glaucoma, primary closed-angle", "MONDO:0030042": "proteinuria, chronic benign", "MONDO:0030043": "congenital disorder of glycosylation, type iit", "MONDO:0030044": "pseudo-TORCH syndrome 3", "MONDO:0030046": "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity", "MONDO:0030047": "microcephaly, developmental delay, and brittle hair syndrome", "MONDO:0030049": "46,xx sex reversal 5", "MONDO:0030051": "intellectual developmental disorder with autistic features and language delay, with or without seizures", "MONDO:0030054": "developmental and epileptic encephalopathy, 86", "MONDO:0030055": "neuronopathy, distal hereditary motor, autosomal recessive 8", "MONDO:0030056": "Fanconi renotubular syndrome 5", "MONDO:0030057": "neurodevelopmental, jaw, eye, and digital syndrome", "MONDO:0030058": "hearing loss, autosomal dominant 77", "MONDO:0030059": "developmental and epileptic encephalopathy, 87", "MONDO:0030060": "neurodevelopmental disorder with language impairment and behavioral abnormalities", "MONDO:0030061": "periventricular nodular heterotopia 9", "MONDO:0030062": "arrhythmogenic right ventricular dysplasia, familial, 14", "MONDO:0030063": "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities", "MONDO:0030064": "episodic ataxia, type 9", "MONDO:0030065": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome", "MONDO:0030066": "granulomatous disease, chronic, autosomal recessive, 5", "MONDO:0030067": "Treacher Collins syndrome 4", "MONDO:0030069": "hyper-IgE recurrent infection syndrome 5, autosomal recessive", "MONDO:0030070": "heterotaxy, visceral, 9, autosomal, with male infertility", "MONDO:0030071": "retinitis pigmentosa 89", "MONDO:0030072": "developmental and epileptic encephalopathy, 88", "MONDO:0030077": "vertebral, cardiac, renal, and limb defects syndrome 3", "MONDO:0030087": "diabetes mellitus, permanent neonatal 2", "MONDO:0030088": "diabetes mellitus, permanent neonatal 3", "MONDO:0030089": "diabetes mellitus, permanent neonatal 4", "MONDO:0030116": "silver-russell syndrome 2", "MONDO:0030118": "silver-russell syndrome 4", "MONDO:0030134": "oculopharyngodistal myopathy 2", "MONDO:0030259": "pontocerebellar hypoplasia, type 15", "MONDO:0030260": "pontocerebellar hypoplasia, type 1E", "MONDO:0030261": "pontocerebellar hypoplasia, type 1F", "MONDO:0030263": "leukodystrophy, hypomyelinating, 21", "MONDO:0030266": "immunodeficiency 80 with or without congenital cardiomyopathy", "MONDO:0030268": "developmental and epileptic encephalopathy 6B", "MONDO:0030270": "lymphatic malformation 9", "MONDO:0030281": "arthrogryposis multiplex congenita 6", "MONDO:0030293": "angioedema, hereditary, 5", "MONDO:0030294": "megacystis-microcolon-intestinal hypoperistalsis syndrome 3", "MONDO:0030296": "megacystis-microcolon-intestinal hypoperistalsis syndrome 4", "MONDO:0030298": "angioedema, hereditary, 8", "MONDO:0030300": "cardiomyopathy, dilated, 2D", "MONDO:0030302": "immunodeficiency 81", "MONDO:0030307": "spermatogenic failure 55", "MONDO:0030308": "immunodeficiency 82 with systemic inflammation", "MONDO:0030311": "combined oxidative phosphorylation deficiency 52", "MONDO:0030312": "spinocerebellar ataxia, autosomal recessive 29", "MONDO:0030313": "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10", "MONDO:0030314": "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive", "MONDO:0030316": "lymphatic malformation 11", "MONDO:0030317": "cardiomyopathy, familial hypertrophic, 28", "MONDO:0030318": "spinocerebellar ataxia, autosomal recessive 30", "MONDO:0030323": "spinocerebellar ataxia, autosomal recessive 31", "MONDO:0030326": "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)", "MONDO:0030329": "megacystis-microcolon-intestinal hypoperistalsis syndrome 5", "MONDO:0030330": "cardiomyopathy, familial restrictive, 6", "MONDO:0030331": "Ritscher-Schinzel syndrome 4", "MONDO:0030332": "ciliary dyskinesia, primary, 46", "MONDO:0030333": "immunodeficiency 84", "MONDO:0030334": "encephalitis, acute, infection (viral)-induced, susceptibility to, 11", "MONDO:0030335": "diarrhea 12, with microvillus atrophy", "MONDO:0030337": "cutis laxa, autosomal recessive, type 2E", "MONDO:0030338": "anencephaly 2", "MONDO:0030339": "microcephaly 28, primary, autosomal recessive", "MONDO:0030341": "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive", "MONDO:0030346": "ciliary dyskinesia, primary, 47, and lissencephaly", "MONDO:0030353": "Joubert syndrome 38", "MONDO:0030354": "facioscapulohumeral muscular dystrophy 3, digenic", "MONDO:0030355": "facioscapulohumeral muscular dystrophy 4, digenic", "MONDO:0030356": "short-rib thoracic dysplasia 21 without polydactyly", "MONDO:0030360": "cholestasis, progressive familial intrahepatic, 6", "MONDO:0030361": "Aicardi-Goutieres syndrome 8", "MONDO:0030362": "Aicardi-Goutieres syndrome 9", "MONDO:0030366": "cardiomyopathy, dilated, 2E", "MONDO:0030374": "WHIM syndrome 2", "MONDO:0030375": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2", "MONDO:0030376": "Martsolf syndrome 2", "MONDO:0030378": "combined oxidative phosphorylation deficiency 53", "MONDO:0030397": "portal hypertension, noncirrhotic, 2", "MONDO:0030399": "visceral neuropathy, familial, 2, autosomal recessive", "MONDO:0030423": "congenital disorder of glycosylation, type 2v", "MONDO:0030428": "immunodeficiency 85 and autoimmunity", "MONDO:0030430": "spermatogenic failure 56", "MONDO:0030433": "Charcot-Marie-Tooth disease, axonal, type 2FF", "MONDO:0030434": "epilepsy, idiopathic generalized, susceptibility to, 18", "MONDO:0030436": "anemia, sideroblastic, 5", "MONDO:0030437": "congenital disorder of glycosylation, type IIw", "MONDO:0030438": "pontocerebellar hypoplasia, type 16", "MONDO:0030439": "spermatogenic failure 57", "MONDO:0030440": "cone-rod dystrophy 22", "MONDO:0030448": "immunodeficiency 86", "MONDO:0030449": "hearing loss, autosomal recessive 118, with cochlear aplasia", "MONDO:0030453": "developmental and epileptic encephalopathy 97", "MONDO:0030454": "Joubert syndrome 39", "MONDO:0030455": "dystonia 31", "MONDO:0030456": "muscular dystrophy, limb-girdle, autosomal recessive 27", "MONDO:0030457": "immunodeficiency 87 and autoimmunity", "MONDO:0030458": "Charcot-Marie-Tooth disease, axonal, Type 2HH", "MONDO:0030462": "Joubert syndrome 40", "MONDO:0030463": "spermatogenic failure 58", "MONDO:0030465": "cataract 49", "MONDO:0030471": "Galloway-Mowat syndrome 9", "MONDO:0030472": "developmental and epileptic encephalopathy 98", "MONDO:0030473": "developmental and epileptic encephalopathy 99", "MONDO:0030474": "heterotaxy, visceral, 10, autosomal, with male infertility", "MONDO:0030475": "heterotaxy, visceral, 11, autosomal, with male infertility", "MONDO:0030476": "Galloway-Mowat syndrome 10", "MONDO:0030480": "hearing loss, autosomal recessive 119", "MONDO:0030483": "immunodeficiency 88", "MONDO:0030484": "immunodeficiency 89 and autoimmunity", "MONDO:0030486": "dystonia 32", "MONDO:0030487": "spondylometaphyseal dysplasia, pagnamenta type", "MONDO:0030489": "epidermolysis bullosa simplex 2A, generalized severe", "MONDO:0030490": "oocyte maturation defect 11", "MONDO:0030491": "immunodeficiency 91 and hyperinflammation", "MONDO:0030492": "spermatogenic failure 59", "MONDO:0030493": "spermatogenic failure 60", "MONDO:0030498": "immunodeficiency 92", "MONDO:0030500": "Loeys-Dietz syndrome 6", "MONDO:0030503": "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss", "MONDO:0030505": "cholestasis, progressive familial intrahepatic, 8", "MONDO:0030506": "ovarian dysgenesis 9", "MONDO:0030507": "spermatogenic failure 61", "MONDO:0030508": "spermatogenic failure 62", "MONDO:0030513": "dystonia 33", "MONDO:0030514": "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy", "MONDO:0030515": "spermatogenic failure 63", "MONDO:0030517": "trichothiodystrophy 8, nonphotosensitive", "MONDO:0030518": "trichothiodystrophy 9, nonphotosensitive", "MONDO:0030519": "agammaglobulinemia 9, autosomal recessive", "MONDO:0030522": "spermatogenic failure 64", "MONDO:0030523": "oocyte maturation defect 12", "MONDO:0030525": "epidermolysis bullosa simplex 2B, generalized intermediate", "MONDO:0030527": "epidermolysis bullosa simplex 2C, localized", "MONDO:0030528": "immunodeficiency 93 and hypertrophic cardiomyopathy", "MONDO:0030529": "agammaglobulinemia 10, autosomal dominant", "MONDO:0030531": "spermatogenic failure 65", "MONDO:0030533": "intellectual developmental disorder, autosomal recessive 73", "MONDO:0030534": "hypogonadotropic hypogonadism 26 with or without anosmia", "MONDO:0030535": "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive", "MONDO:0030537": "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction", "MONDO:0030538": "dystonia 34, myoclonic", "MONDO:0030539": "central hypoventilation syndrome, congenital, 3", "MONDO:0030543": "combined oxidative phosphorylation deficiency 54", "MONDO:0030549": "hearing loss, autosomal dominant 81", "MONDO:0030553": "acromesomelic dysplasia 4", "MONDO:0030606": "Bryant-Li-Bhoj neurodevelopmental syndrome 1", "MONDO:0030607": "Bryant-Li-Bhoj neurodevelopmental syndrome 2", "MONDO:0030608": "interstitial lung disease 1", "MONDO:0030619": "retinitis pigmentosa 92", "MONDO:0030625": "dyskinesia with orofacial involvement, autosomal recessive", "MONDO:0030634": "leukoencephalopathy, hereditary diffuse, with spheroids 2", "MONDO:0030669": "gastrointestinal defects and immunodeficiency syndrome 2", "MONDO:0030674": "Teebi hypertelorism syndrome 2", "MONDO:0030676": "parkinsonism-dystonia 3, childhood-onset", "MONDO:0030677": "Charcot-Marie-Tooth disease, demyelinating, IIA 1I", "MONDO:0030679": "Noonan syndrome 14", "MONDO:0030680": "cardiomyopathy, dilated, 2F", "MONDO:0030681": "immunodeficiency 94 with autoinflammation and dysmorphic facies", "MONDO:0030684": "hypogonadotropic hypogonadism 27 without anosmia", "MONDO:0030689": "Charcot-Marie-Tooth disease, demyelinating, IIA 1H", "MONDO:0030690": "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6", "MONDO:0030692": "immunodeficiency 95", "MONDO:0030693": "immunodeficiency 96", "MONDO:0030695": "developmental and epileptic encephalopathy 100", "MONDO:0030696": "mitochondrial DNA depletion syndrome 20 (mngie type)", "MONDO:0030697": "myopia 28, autosomal recessive", "MONDO:0030711": "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive", "MONDO:0030712": "oculopharyngodistal myopathy 4", "MONDO:0030714": "osteogenesis imperfecta, IIA 22", "MONDO:0030716": "spermatogenic failure 66", "MONDO:0030717": "immunodeficiency 97 with autoinflammation", "MONDO:0030718": "spermatogenic failure 67", "MONDO:0030719": "hearing loss, autosomal dominant 82", "MONDO:0030721": "spermatogenic failure 68", "MONDO:0030723": "hearing loss, autosomal dominant 83", "MONDO:0030724": "hearing loss, autosomal dominant 84", "MONDO:0030726": "neutropenia, severe congenital, 9, autosomal dominant", "MONDO:0030727": "developmental and epileptic encephalopathy 101", "MONDO:0030729": "Tessadori-van Haaften neurodevelopmental syndrome 1", "MONDO:0030730": "Tessadori-van Haaften neurodevelopmental syndrome 2", "MONDO:0030731": "aortic aneurysm, familial thoracic 12", "MONDO:0030732": "spermatogenic failure 69", "MONDO:0030733": "spermatogenic failure 70", "MONDO:0030736": "ovarian dysgenesis 10", "MONDO:0030746": "epidermolysis bullosa, junctional 2A, intermediate", "MONDO:0030747": "epidermolysis bullosa, junctional 2B, severe", "MONDO:0030748": "epidermolysis bullosa, junctional 3A, intermediate", "MONDO:0030749": "epidermolysis bullosa, junctional 3B, severe", "MONDO:0030750": "epidermolysis bullosa, junctional 4, intermediate", "MONDO:0030756": "Stuve-Wiedemann syndrome 2", "MONDO:0030768": "epidermolysis bullosa, junctional 5A, intermediate", "MONDO:0030770": "congenital disorder of deglycosylation 2", "MONDO:0030781": "restrictive dermopathy 2", "MONDO:0030785": "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly", "MONDO:0030787": "spermatogenic failure 71", "MONDO:0030797": "retinitis pigmentosa 93", "MONDO:0030798": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias", "MONDO:0030800": "cholestasis, progressive familial intrahepatic, 9", "MONDO:0030801": "monosomy 7 myelodysplasia and leukemia syndrome 2", "MONDO:0030809": "spermatogenic failure 72", "MONDO:0030810": "cholestasis, progressive familial intrahepatic, 10", "MONDO:0030813": "immunodeficiency 101 (varicella zoster virus-specific)", "MONDO:0030815": "cholestasis, progressive familial intrahepatic, 11", "MONDO:0030818": "spermatogenic failure 73", "MONDO:0030819": "meckel syndrome 14", "MONDO:0030822": "renal hypodysplasia/aplasia 4", "MONDO:0030827": "macrothrombocytopenia, isolated, 2, autosomal dominant", "MONDO:0030835": "developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy", "MONDO:0030837": "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities", "MONDO:0030839": "thyroid hormone metabolism, abnormal, 2", "MONDO:0030840": "mismatch repair cancer syndrome 2", "MONDO:0030841": "mismatch repair cancer syndrome 3", "MONDO:0030843": "mismatch repair cancer syndrome 4", "MONDO:0030844": "spermatogenic failure 47", "MONDO:0030846": "spermatogenic failure 48", "MONDO:0030847": "arthrogryposis, distal, type 1C", "MONDO:0030849": "intellectual developmental disorder with speech delay and axonal peripheral neuropathy", "MONDO:0030852": "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities", "MONDO:0030854": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1", "MONDO:0030855": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2", "MONDO:0030856": "developmental and epileptic encephalopathy 89", "MONDO:0030858": "immunodeficiency 75", "MONDO:0030859": "COACH syndrome 2", "MONDO:0030860": "neuronopathy, distal hereditary motor, type 5C", "MONDO:0030861": "osteogenesis imperfecta, type 21", "MONDO:0030862": "COACH syndrome 3", "MONDO:0030864": "Ritscher-Schinzel syndrome 3", "MONDO:0030866": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities", "MONDO:0030867": "thrombocytopenia 7", "MONDO:0030868": "spermatogenic failure 49", "MONDO:0030869": "spermatogenic failure 50", "MONDO:0030870": "premature ovarian failure 17", "MONDO:0030871": "vertebral hypersegmentation and orofacial anomalies", "MONDO:0030872": "frontotemporal dementia and/or amyotrophic lateral sclerosis 8", "MONDO:0030873": "cardiofacioneurodevelopmental syndrome", "MONDO:0030875": "frontotemporal dementia and/or amyotrophic lateral sclerosis 5", "MONDO:0030876": "cardioacrofacial dysplasia 1", "MONDO:0030877": "cardioacrofacial dysplasia 2", "MONDO:0030878": "Kaya-Barakat-Masson syndrome", "MONDO:0030881": "developmental and epileptic encephalopathy 102", "MONDO:0030883": "carpal tunnel syndrome 2", "MONDO:0030885": "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia", "MONDO:0030886": "holoprosencephaly 14", "MONDO:0030887": "cardiomyopathy, dilated, 2G", "MONDO:0030890": "pontocerebellar hypoplasia, IIA 17", "MONDO:0030891": "intellectual developmental disorder, autosomal dominant 66", "MONDO:0030893": "leukoencephalopathy, progressive, infantile-onset, with or without deafness", "MONDO:0030895": "nephrotic syndrome, type 22", "MONDO:0030896": "chromosome 13q33-q34 deletion syndrome", "MONDO:0030897": "Lessel-Kreienkamp syndrome", "MONDO:0030900": "intellectual developmental disorder with paroxysmal dyskinesia or seizures", "MONDO:0030902": "mitochondrial complex 1 deficiency, nuclear type 36", "MONDO:0030903": "Hermansky-Pudlak syndrome 11", "MONDO:0030905": "hearing loss, autosomal recessive 117", "MONDO:0030907": "intellectual disability, X-linked 106", "MONDO:0030908": "intellectual disability, X-linked, syndromic, 35", "MONDO:0030909": "intellectual disability, X-linked, syndromic, Houge type", "MONDO:0030910": "intellectual disability, autosomal dominant 45", "MONDO:0030911": "intellectual disability, autosomal dominant 46", "MONDO:0030915": "intellectual disability, autosomal recessive 61", "MONDO:0030916": "intellectual disability, autosomal dominant 50", "MONDO:0030917": "intellectual disability, autosomal dominant 51", "MONDO:0030918": "intellectual disability, autosomal dominant 52", "MONDO:0030919": "intellectual disability, autosomal dominant 53", "MONDO:0030920": "intellectual disability, autosomal dominant 54", "MONDO:0030921": "intellectual disability, autosomal dominant 55, with seizures", "MONDO:0030922": "intellectual disability, autosomal dominant 56", "MONDO:0030924": "proteasome-associated autoinflammatory syndrome 5", "MONDO:0030925": "oocyte maturation defect 10", "MONDO:0030926": "spermatogenic failure 51", "MONDO:0030927": "myofibrillar myopathy 11", "MONDO:0030928": "microcephaly 26, primary, autosomal dominant", "MONDO:0030929": "microcephaly 27, primary, autosomal dominant", "MONDO:0030930": "neurodevelopmental disorder with or without early-onset generalized epilepsy", "MONDO:0030931": "proteasome-associated autoinflammatory syndrome 4", "MONDO:0030933": "Joubert syndrome 37", "MONDO:0030934": "intellectual developmental disorder, autosomal dominant 64", "MONDO:0030935": "mitochondrial complex 2 deficiency, nuclear type 2", "MONDO:0030936": "epilepsy, progressive myoclonic, 12", "MONDO:0030937": "mitochondrial complex 2 deficiency, nuclear type 3", "MONDO:0030938": "spermatogenic failure 52", "MONDO:0030939": "premature ovarian failure 18", "MONDO:0030941": "erythrokeratodermia variabilis et progressiva 7", "MONDO:0030953": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2", "MONDO:0030957": "developmental and epileptic encephalopathy 103", "MONDO:0030958": "dystonia 35, childhood-onset", "MONDO:0030961": "Olmsted syndrome 2", "MONDO:0030962": "nephrotic syndrome, type 23", "MONDO:0030963": "Li-Campeau syndrome", "MONDO:0030964": "intellectual developmental disorder, autosomal dominant 67", "MONDO:0030966": "neurofacioskeletal syndrome with or without renal agenesis", "MONDO:0030967": "deafness, congenital, and adult-onset progressive leukoencephalopathy", "MONDO:0030968": "intellectual developmental disorder, autosomal recessive 76", "MONDO:0030969": "intellectual developmental disorder, autosomal dominant 68", "MONDO:0030970": "immunodeficiency 106, susceptibility to viral infections", "MONDO:0030971": "immunodeficiency 78 with autoimmunity and developmental delay", "MONDO:0030972": "spermatogenic failure 74", "MONDO:0030973": "immunodeficiency 77", "MONDO:0030974": "mitochondrial complex 2 deficiency, nuclear type 4", "MONDO:0030975": "premature ovarian failure 20", "MONDO:0030976": "oculomotor-abducens synkinesis", "MONDO:0030977": "neuronopathy, distal hereditary motor, autosomal recessive 7", "MONDO:0030978": "ENDOVE syndrome, limb-only type", "MONDO:0030979": "ENDOVE syndrome, limb-brain type", "MONDO:0030981": "immunodeficiency 79", "MONDO:0030982": "sulfide quinone oxidoreductase deficiency", "MONDO:0030983": "Waardenburg syndrome, IIa 2F", "MONDO:0030984": "spermatogenic failure 75", "MONDO:0030985": "premature ovarian failure 19", "MONDO:0030986": "blistering, acantholytic, of oral and laryngeal mucosa", "MONDO:0030987": "vertebral, cardiac, tracheoesophageal, renal, and limb defects", "MONDO:0030988": "developmental delay with dysmorphic facies and dental anomalies", "MONDO:0030989": "spermatogenic failure 53", "MONDO:0030990": "Kohlschutter-Tonz syndrome-like", "MONDO:0030991": "bile acid conjugation defect 1", "MONDO:0030992": "short stature, oligodontia, dysmorphic facies, and motor delay", "MONDO:0030993": "Tessadori-Van Haaften neurodevelopmental syndrome 3", "MONDO:0030994": "neurodevelopmental disorder with or without autism or seizures", "MONDO:0030995": "global developmental delay with speech and behavioral abnormalities", "MONDO:0030996": "bleeding disorder, platelet-type, 24", "MONDO:0030997": "mitochondrial complex 1 deficiency, nuclear type 37", "MONDO:0030998": "hearing loss, autosomal dominant 80", "MONDO:0030999": "neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism", "MONDO:0031000": "Tessadori-Van Haaften neurodevelopmental syndrome 4", "MONDO:0031001": "vitreoretinopathy with phalangeal epiphyseal dysplasia", "MONDO:0031002": "Baralle-Macken syndrome", "MONDO:0031003": "hypercholanemia, familial, 2", "MONDO:0031006": "neurodegeneration with ataxia and late-onset optic atrophy", "MONDO:0031009": "Glanzmann thrombasthenia 2", "MONDO:0031010": "odontochondrodysplasia 2 with hearing loss and diabetes", "MONDO:0031011": "neurodevelopmental disorder with dysmorphic facies and variable seizures", "MONDO:0031021": "developmental and epileptic encephalopathy 104", "MONDO:0031028": "developmental and epileptic encephalopathy 105 with hypopituitarism", "MONDO:0031030": "immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection", "MONDO:0031031": "intellectual developmental disorder, autosomal recessive 77", "MONDO:0031040": "cholestasis, progressive familial intrahepatic, 12", "MONDO:0031043": "lymphatic malformation 12", "MONDO:0031044": "advance sleep phase syndrome, familial, 4", "MONDO:0031045": "arthrogryposis, distal, IIa 11", "MONDO:0031047": "Stickler syndrome, type 6", "MONDO:0031052": "developmental and epileptic encephalopathy 106", "MONDO:0031054": "ciliary dyskinesia, primary, 48, without situs inversus", "MONDO:0031055": "developmental and epileptic encephalopathy 107", "MONDO:0031057": "dyskeratosis congenita, digenic", "MONDO:0031060": "microcephaly 29, primary, autosomal recessive", "MONDO:0031061": "nephrotic syndrome, IIa 26", "MONDO:0031062": "polycystic kidney disease 7", "MONDO:0031068": "Charcot-Marie-Tooth disease, axonal, IIa 2II", "MONDO:0031071": "Diamond-Blackfan anemia 21", "MONDO:0031077": "spermatogenic failure 76", "MONDO:0031083": "spermatogenic failure 77", "MONDO:0031084": "amelogenesis imperfecta, IIa 1K", "MONDO:0031332": "Glanzmann thrombasthenia 1", "MONDO:0032485": "intellectual developmental disorder 61", "MONDO:0032564": "hennekam lymphangiectasia-lymphedema syndrome 3", "MONDO:0032565": "ophthalmoplegia, external, with rib and vertebral anomalies", "MONDO:0032566": "squalene synthase deficiency", "MONDO:0032567": "isolated growth hormone deficiency, type 4", "MONDO:0032568": "intellectual developmental disorder with macrocephaly, seizures, and speech delay", "MONDO:0032569": "isolated growth hormone deficiency, type 5", "MONDO:0032570": "Joubert syndrome 35", "MONDO:0032571": "spondyloepimetaphyseal dysplasia, Krakow type", "MONDO:0032572": "cardiac, facial, and digital anomalies with developmental delay", "MONDO:0032573": "bone marrow failure syndrome 5", "MONDO:0032574": "osteochondrodysplasia, brachydactyly, and overlapping malformed digits", "MONDO:0032575": "diarrhea 9", "MONDO:0032577": "retinitis pigmentosa 83", "MONDO:0032578": "cortical dysplasia, complex, with other brain malformations 9", "MONDO:0032579": "warburg-cinotti syndrome", "MONDO:0032580": "nephrotic syndrome, type 17", "MONDO:0032581": "nephrotic syndrome, type 18", "MONDO:0032582": "nephrotic syndrome, type 19", "MONDO:0032583": "microcephaly 24, primary, autosomal recessive", "MONDO:0032584": "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis", "MONDO:0032586": "diarrhea 10, protein-losing enteropathy type", "MONDO:0032588": "periventricular nodular heterotopia 8", "MONDO:0032590": "ovarian dysgenesis 8", "MONDO:0032591": "hyperparathyroidism, transient neonatal", "MONDO:0032592": "cardiomyopathy, dilated, 2c", "MONDO:0032594": "intellectual developmental disorder and retinitis pigmentosa; IDDRP", "MONDO:0032596": "myasthenic syndrome, congenital, 23, presynaptic", "MONDO:0032597": "myasthenic syndrome, congenital, 24, presynaptic", "MONDO:0032598": "developmental and epileptic encephalopathy, 68", "MONDO:0032599": "immunodeficiency 15a", "MONDO:0032603": "polydactyly, postaxial, type A9", "MONDO:0032604": "retinitis pigmentosa 84", "MONDO:0032605": "intellectual disability, autosomal recessive 66", "MONDO:0032606": "mitochondrial complex 1 deficiency, nuclear type 2", "MONDO:0032607": "vertebral anomalies and variable endocrine and T-cell dysfunction", "MONDO:0032608": "mitochondrial complex 1 deficiency, nuclear type 3", "MONDO:0032609": "mitochondrial complex 1 deficiency, nuclear type 4", "MONDO:0032610": "mitochondrial complex 1 deficiency, nuclear type 5", "MONDO:0032611": "mitochondrial complex 1 deficiency, nuclear type 6", "MONDO:0032612": "mitochondrial complex 1 deficiency, nuclear type 7", "MONDO:0032613": "mitochondrial complex 1 deficiency, nuclear type 8", "MONDO:0032614": "epidermodysplasia verruciformis, susceptibility to, 2", "MONDO:0032615": "mitochondrial complex 1 deficiency, nuclear type 9", "MONDO:0032616": "mitochondrial complex 1 deficiency, nuclear type 10", "MONDO:0032617": "mitochondrial complex 1 deficiency, nuclear type 11", "MONDO:0032618": "mitochondrial complex 1 deficiency, nuclear type 13", "MONDO:0032619": "mitochondrial complex 1 deficiency, nuclear type 14", "MONDO:0032620": "mitochondrial complex 1 deficiency, nuclear type 15", "MONDO:0032621": "mitochondrial complex 1 deficiency, nuclear type 16", "MONDO:0032622": "mitochondrial complex 1 deficiency, nuclear type 17", "MONDO:0032623": "mitochondrial complex 1 deficiency, nuclear type 18", "MONDO:0032624": "mitochondrial complex 1 deficiency, nuclear type 19", "MONDO:0032625": "mitochondrial complex 1 deficiency, nuclear type 21", "MONDO:0032626": "mitochondrial complex 1 deficiency, nuclear type 22", "MONDO:0032627": "mitochondrial complex 1 deficiency, nuclear type 23", "MONDO:0032628": "mitochondrial complex 1 deficiency, nuclear type 24", "MONDO:0032629": "mitochondrial complex 1 deficiency, nuclear type 25", "MONDO:0032630": "mitochondrial complex 1 deficiency, nuclear type 26", "MONDO:0032631": "mitochondrial complex 1 deficiency, nuclear type 27", "MONDO:0032632": "mitochondrial complex 1 deficiency, nuclear type 28", "MONDO:0032633": "mitochondrial complex 1 deficiency, nuclear type 29", "MONDO:0032634": "mitochondrial complex 1 deficiency, nuclear type 31", "MONDO:0032635": "mitochondrial complex 1 deficiency, nuclear type 32", "MONDO:0032636": "mitochondrial complex 1 deficiency, nuclear type 33", "MONDO:0032637": "ciliary dyskinesia, primary, 39", "MONDO:0032639": "hearing loss, autosomal recessive 112", "MONDO:0032641": "mirror movements 4", "MONDO:0032644": "epidermodysplasia verruciformis, susceptibility to, 3", "MONDO:0032645": "trichohepatoneurodevelopmental syndrome", "MONDO:0032646": "congenital anomalies of kidney and urinary tract 3", "MONDO:0032648": "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations", "MONDO:0032649": "hypotrichosis 14", "MONDO:0032650": "neurodegeneration, childhood-onset, with cerebellar atrophy", "MONDO:0032651": "fibrosis, neurodegeneration, and cerebral angiomatosis", "MONDO:0032655": "visual impairment and progressive phthisis bulbi", "MONDO:0032656": "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum", "MONDO:0032657": "developmental and epileptic encephalopathy, 69", "MONDO:0032658": "macrocephaly, acquired, with impaired intellectual development", "MONDO:0032659": "mucocutaneous ulceration, chronic", "MONDO:0032660": "spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant", "MONDO:0032661": "neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia", "MONDO:0032662": "intellectual developmental disorder, autosomal recessive 67", "MONDO:0032663": "developmental and epileptic encephalopathy, 70", "MONDO:0032664": "ciliary dyskinesia, primary, 40", "MONDO:0032665": "intellectual developmental disorder, autosomal recessive 68", "MONDO:0032666": "epidermodysplasia verruciformis, susceptibility to, 4", "MONDO:0032667": "epidermodysplasia verruciformis, susceptibility to, 5", "MONDO:0032668": "Diamond-Blackfan anemia 18", "MONDO:0032669": "Diamond-Blackfan anemia 19", "MONDO:0032670": "Diamond-Blackfan anemia 20", "MONDO:0032673": "basal ganglia calcification, idiopathic, 7, autosomal recessive", "MONDO:0032675": "myasthenic syndrome, congenital, 25, presynaptic", "MONDO:0032679": "combined oxidative phosphorylation deficiency 37", "MONDO:0032680": "global developmental delay with or without impaired intellectual development", "MONDO:0032681": "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis", "MONDO:0032684": "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency", "MONDO:0032685": "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development", "MONDO:0032686": "spermatogenic failure 35", "MONDO:0032687": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", "MONDO:0032689": "retinitis pigmentosa 85", "MONDO:0032690": "microcephaly, growth deficiency, seizures, and brain malformations", "MONDO:0032691": "Galloway-Mowat syndrome 6", "MONDO:0032692": "Galloway-Mowat syndrome 7", "MONDO:0032693": "Galloway-Mowat syndrome 8", "MONDO:0032694": "microcephaly 25, primary, autosomal recessive", "MONDO:0032696": "oocyte maturation defect 6", "MONDO:0032697": "Houge-Janssens syndrome 3", "MONDO:0032698": "neurodevelopmental disorder with central and peripheral motor dysfunction", "MONDO:0032699": "epilepsy, idiopathic generalized, susceptibility to, 15", "MONDO:0032702": "Coffin-Siris syndrome 8", "MONDO:0032703": "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis", "MONDO:0032706": "spinocerebellar ataxia, autosomal recessive 27", "MONDO:0032707": "turnpenny-fry syndrome", "MONDO:0032710": "developmental and epileptic encephalopathy, 72", "MONDO:0032712": "combined oxidative phosphorylation deficiency 38", "MONDO:0032715": "intellectual developmental disorder, autosomal recessive 69", "MONDO:0032717": "amelogenesis imperfecta, type 3C", "MONDO:0032721": "spondyloepiphyseal dysplasia, kondo-fu type", "MONDO:0032723": "immunodeficiency 60", "MONDO:0032725": "developmental and epileptic encephalopathy, 74", "MONDO:0032728": "Charcot-Marie-Tooth disease, axonal, type 2EE", "MONDO:0032729": "intellectual developmental disorder, autosomal recessive 70", "MONDO:0032730": "leukodystrophy, hypomyelinating, 18", "MONDO:0032732": "hearing loss, autosomal recessive 113", "MONDO:0032733": "global developmental delay, progressive ataxia, and elevated glutamine", "MONDO:0032735": "cataract 48", "MONDO:0032736": "metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression", "MONDO:0032738": "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy", "MONDO:0032739": "spermatogenic failure 36", "MONDO:0032740": "hearing loss, autosomal recessive 100", "MONDO:0032741": "neurodevelopmental disorder with impaired speech and hyperkinetic movements", "MONDO:0032742": "encephalopathy, acute, infection-induced, susceptibility to, 9", "MONDO:0032744": "spermatogenic failure 37", "MONDO:0032745": "developmental delay with variable intellectual impairment and behavioral abnormalities", "MONDO:0032746": "hydatidiform mole, recurrent, 3", "MONDO:0032747": "hydatidiform mole, recurrent, 4", "MONDO:0032748": "spermatogenic failure 38", "MONDO:0032749": "hearing loss, autosomal recessive 94", "MONDO:0032750": "arthrogryposis, distal, type 2B2", "MONDO:0032751": "arthrogryposis, distal, type 2B3", "MONDO:0032752": "developmental and epileptic encephalopathy, 75", "MONDO:0032753": "spastic ataxia 9, autosomal recessive", "MONDO:0032755": "neurodevelopmental disorder with or without variable brain abnormalities; NEDBA", "MONDO:0032756": "long qt syndrome 8", "MONDO:0032757": "ciliary dyskinesia, primary, 41", "MONDO:0032758": "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia", "MONDO:0032759": "intellectual developmental disorder with short stature and variable skeletal anomalies", "MONDO:0032760": "developmental delay with or without dysmorphic facies and autism", "MONDO:0032761": "hearing loss, autosomal recessive 114", "MONDO:0032762": "hearing loss, autosomal recessive 115", "MONDO:0032763": "immunodeficiency 62", "MONDO:0032764": "Khan-Khan-Katsanis syndrome", "MONDO:0032765": "bleeding disorder, platelet-type, 22", "MONDO:0032766": "hypoalphalipoproteinemia, primary, 2", "MONDO:0032767": "paragangliomas 6", "MONDO:0032768": "developmental and epileptic encephalopathy, 76", "MONDO:0032770": "intellectual developmental disorder with severe speech and ambulation defects", "MONDO:0032771": "paragangliomas 7", "MONDO:0032772": "brain abnormalities, neurodegeneration, and dysosteosclerosis", "MONDO:0032773": "uridine-cytidineuria", "MONDO:0032774": "cerebellar, ocular, craniofacial, and genital syndrome", "MONDO:0032775": "neurodevelopmental disorder with seizures and speech and walking impairment", "MONDO:0032776": "hearing loss, autosomal recessive 99", "MONDO:0032777": "generalized epilepsy with febrile seizures plus, type 10", "MONDO:0032778": "arthrogryposis multiplex congenita 3, myogenic type", "MONDO:0032779": "neurodevelopmental disorder with microcephaly and structural brain anomalies", "MONDO:0032781": "congenital hypotonia, epilepsy, developmental delay, and digital anomalies", "MONDO:0032782": "immunodeficiency 63 with lymphoproliferation and autoimmunity", "MONDO:0032783": "aortic valve disease 3", "MONDO:0032784": "neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements", "MONDO:0032785": "polydactyly, postaxial, type a10", "MONDO:0032786": "Noonan syndrome 11", "MONDO:0032787": "holoprosencephaly 12 with or without pancreatic agenesis", "MONDO:0032788": "cerebellar atrophy with seizures and variable developmental delay", "MONDO:0032789": "intellectual developmental disorder, autosomal recessive 71", "MONDO:0032790": "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities", "MONDO:0032791": "Coffin-Siris syndrome 10", "MONDO:0032792": "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy", "MONDO:0032793": "O'Donnell-Luria-Rodan syndrome", "MONDO:0032794": "leber congenital amaurosis 19", "MONDO:0032795": "intellectual developmental disorder 59", "MONDO:0032796": "hyper-IgE recurrent infection syndrome 4, autosomal recessive", "MONDO:0032797": "myopathy, congenital, with tremor", "MONDO:0032798": "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features", "MONDO:0032799": "mitochondrial DNA depletion syndrome 16 (hepatic type)", "MONDO:0032800": "robinow syndrome, autosomal recessive 2", "MONDO:0032801": "erythrokeratodermia variabilis et progressiva 6", "MONDO:0032802": "hearing loss, autosomal dominant 37", "MONDO:0032803": "immunodeficiency 64", "MONDO:0032804": "ectodermal dysplasia 15, hypohidrotic/hair type", "MONDO:0032805": "hypopigmentation, organomegaly, and delayed myelination and development", "MONDO:0032806": "trichothiodystrophy 7, nonphotosensitive", "MONDO:0032807": "neurodevelopmental disorder with visual defects and brain anomalies", "MONDO:0032808": "developmental and epileptic encephalopathy, 77", "MONDO:0032809": "hepatitis, fulminant viral, susceptibility to", "MONDO:0032810": "oocyte maturation defect 7", "MONDO:0032811": "night blindness, congenital stationary, type1i", "MONDO:0032812": "developmental and epileptic encephalopathy, 78", "MONDO:0032813": "developmental and epileptic encephalopathy, 79", "MONDO:0032815": "mitochondrial DNA depletion syndrome 17", "MONDO:0032816": "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly", "MONDO:0032817": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies", "MONDO:0032818": "neurodevelopmental disorder with cerebellar hypoplasia and spasticity", "MONDO:0032821": "myopathy, congenital, progressive, with scoliosis", "MONDO:0032822": "developmental and epileptic encephalopathy, 80", "MONDO:0032823": "intellectual developmental disorder 60 with seizures", "MONDO:0032824": "glycosylphosphatidylinositol biosynthesis defect 21", "MONDO:0032826": "nephrotic syndrome, type 21", "MONDO:0032827": "epilepsy, idiopathic generalized, susceptibility to, 16", "MONDO:0032828": "spastic tetraplegia and axial hypotonia, progressive", "MONDO:0032829": "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities", "MONDO:0032832": "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies", "MONDO:0032833": "lower urinary tract obstruction, congenital", "MONDO:0032834": "retinitis pigmentosa 86", "MONDO:0032835": "spondyloepiphyseal dysplasia, nishimura type", "MONDO:0032837": "abdominal obesity-metabolic syndrome 4", "MONDO:0032839": "noonan syndrome 12", "MONDO:0032841": "Usher syndrome, type 1M", "MONDO:0032842": "Siddiqi syndrome", "MONDO:0032843": "oculopharyngeal myopathy with leukoencephalopathy 1", "MONDO:0032844": "infantile liver failure syndrome 3", "MONDO:0032845": "spermatogenic failure 39", "MONDO:0032846": "osteogenesis imperfecta, type 20", "MONDO:0032848": "immunodeficiency 65, susceptibility to viral infections", "MONDO:0032849": "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies", "MONDO:0032850": "neurooculocardiogenitourinary syndrome", "MONDO:0032851": "intellectual developmental disorder with impaired language and dysmorphic facies", "MONDO:0032852": "myopathy, congenital, with structured cores and z-line abnormalities", "MONDO:0032853": "myopathy, distal, 6, adult-onset, autosomal dominant", "MONDO:0032854": "zimmermann-laband syndrome 3", "MONDO:0032855": "neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies", "MONDO:0032857": "diarrhea 11, malabsorptive, congenital", "MONDO:0032858": "developmental and epileptic encephalopathy, 81", "MONDO:0032859": "spermatogenic failure 40", "MONDO:0032860": "intellectual developmental disorder, autosomal recessive 72", "MONDO:0032862": "hydrocephalus, congenital communicating, 1", "MONDO:0032863": "spermatogenic failure 41", "MONDO:0032864": "intellectual developmental disorder with speech delay, autism, and dysmorphic facies", "MONDO:0032865": "pulmonary fibrosis and/or bone marrow failure, telomere-related, 5", "MONDO:0032866": "cortical dysplasia, complex, with other brain malformations 10", "MONDO:0032867": "pancreatic cancer, susceptibility to, 5", "MONDO:0032868": "lessel-kubisch syndrome", "MONDO:0032869": "mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6", "MONDO:0032870": "intellectual developmental disorder with short stature and behavioral abnormalities", "MONDO:0032871": "leukodystrophy, hypomyelinating, 19, transient infantile", "MONDO:0032872": "ciliary dyskinesia, primary, 42", "MONDO:0032873": "retinitis pigmentosa 87 with choroidal involvement", "MONDO:0032874": "ciliary dyskinesia, primary, 43", "MONDO:0032875": "short stature and microcephaly with genital anomalies", "MONDO:0032876": "neurodevelopmental disorder with absent language and variable seizures", "MONDO:0032877": "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures", "MONDO:0032878": "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia", "MONDO:0032879": "megabladder, congenital", "MONDO:0032880": "developmental and epileptic encephalopathy, 82", "MONDO:0032881": "premature ovarian failure 16", "MONDO:0032883": "intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures", "MONDO:0032884": "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies", "MONDO:0032885": "spondyloepimetaphyseal dysplasia, Isidor-Toutain type", "MONDO:0032887": "neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity", "MONDO:0032888": "neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies", "MONDO:0032889": "Poirier-Bienvenu neurodevelopmental syndrome", "MONDO:0032890": "neuromuscular disease and ocular or auditory anomalies with or without seizures", "MONDO:0032891": "aneurysm, intracranial berry, 12", "MONDO:0032892": "structural brain anomalies with impaired intellectual development and craniosynostosis", "MONDO:0032893": "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures", "MONDO:0032894": "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy", "MONDO:0032895": "developmental and epileptic encephalopathy, 83", "MONDO:0032896": "spermatogenic failure 42", "MONDO:0032897": "intellectual developmental disorder with hypotonia and behavioral abnormalities", "MONDO:0032898": "spermatogenic failure 43", "MONDO:0032900": "neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements", "MONDO:0032901": "Catifa syndrome", "MONDO:0032902": "Joubert syndrome 36", "MONDO:0032903": "arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum", "MONDO:0032904": "corneal dystrophy, Meesmann, 2", "MONDO:0032905": "spastic paraplegia 81, autosomal recessive", "MONDO:0032907": "lymphatic malformation 8", "MONDO:0032908": "CEBALID syndrome", "MONDO:0032909": "mitochondrial complex 3 deficiency, nuclear type 10", "MONDO:0032910": "mitochondrial complex 1 deficiency, nuclear type 34", "MONDO:0032911": "hearing loss, autosomal dominant 75", "MONDO:0032912": "Coffin-Siris syndrome 11", "MONDO:0032913": "congenital heart defects, multiple types, 7", "MONDO:0032914": "ciliary dyskinesia, primary, 44", "MONDO:0032915": "long QT syndrome 16", "MONDO:0032917": "hearing loss, autosomal dominant 76", "MONDO:0032918": "developmental and epileptic encephalopathy, 84", "MONDO:0032919": "intellectual developmental disorder 62", "MONDO:0032920": "juvenile arthritis due to defect in LACC1", "MONDO:0032921": "neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation", "MONDO:0032922": "Beck-Fahrner syndrome", "MONDO:0032923": "spinocerebellar ataxia, autosomal recessive 28", "MONDO:0032924": "ciliary dyskinesia, primary, 45", "MONDO:0032925": "respiratory papillomatosis, juvenile recurrent, congenital", "MONDO:0032926": "sandestig-stefanova syndrome", "MONDO:0032927": "triokinase and FMN cyclase deficiency syndrome", "MONDO:0032930": "intellectual developmental disorder with poor growth and with or without seizures or ataxia", "MONDO:0032932": "mitochondrial DNA depletion syndrome 18", "MONDO:0032934": "genitourinary and/or brain malformation syndrome", "MONDO:0032935": "rhizomelic limb shortening with dysmorphic features", "MONDO:0032936": "myopathy, congenital, with respiratory insufficiency and bone fractures", "MONDO:0032937": "myopathy, congenital proximal, with minicore lesions", "MONDO:0032938": "basal ganglia calcification, idiopathic, 8, autosomal recessive", "MONDO:0032939": "intellectual developmental disorder, autosomal dominant 63, with macrocephaly", "MONDO:0032940": "retinitis pigmentosa 88", "MONDO:0032941": "myopia 27", "MONDO:0033004": "polycystic kidney disease 4", "MONDO:0033005": "Galloway-Mowat syndrome 1", "MONDO:0033006": "Galloway-Mowat syndrome 2, X-linked", "MONDO:0033007": "Galloway-Mowat syndrome 3", "MONDO:0033008": "Galloway-Mowat syndrome 4", "MONDO:0033009": "Galloway-Mowat syndrome 5", "MONDO:0033010": "erythrokeratodermia variabilis et progressiva 1", "MONDO:0033012": "erythrokeratodermia variabilis et progressiva 2", "MONDO:0033013": "erythrokeratodermia variabilis et progressiva 3", "MONDO:0033014": "erythrokeratodermia variabilis et progressiva 4", "MONDO:0033015": "erythrokeratodermia variabilis et progressiva 5", "MONDO:0033044": "Meckel syndrome 13", "MONDO:0033045": "orofaciodigital syndrome 16", "MONDO:0033046": "Meier-Gorlin syndrome 8", "MONDO:0033047": "Perrault syndrome 6", "MONDO:0033091": "ichthyosis, congenital, autosomal recessive 14", "MONDO:0033092": "ichthyosis, congenital, autosomal recessive 13", "MONDO:0033115": "spinocerebellar ataxia, autosomal recessive 25", "MONDO:0033116": "spinocerebellar ataxia, autosomal recessive 26", "MONDO:0033123": "exudative vitreoretinopathy 7", "MONDO:0033198": "deafness, autosomal recessive 106", "MONDO:0033199": "deafness, autosomal recessive 107", "MONDO:0033200": "deafness, autosomal recessive 108", "MONDO:0033201": "deafness, autosomal recessive 57", "MONDO:0033202": "deafness, autosomal recessive 109", "MONDO:0033204": "ciliary dyskinesia, primary, 37", "MONDO:0033258": "deafness, autosomal dominant 71", "MONDO:0033259": "deafness, autosomal dominant 72", "MONDO:0033260": "deafness, autosomal dominant 73", "MONDO:0033261": "deafness, autosomal dominant 34, with or without inflammation", "MONDO:0033262": "nephrotic syndrome 15", "MONDO:0033280": "nephrotic syndrome 16", "MONDO:0033281": "polycystic kidney disease 5", "MONDO:0033308": "Joubert syndrome 30", "MONDO:0033309": "Joubert syndrome 32", "MONDO:0033310": "Joubert syndrome 31", "MONDO:0033311": "Joubert syndrome 33", "MONDO:0033312": "schizophrenia 19", "MONDO:0033361": "epileptic encephalopathy, early infantile, 52", "MONDO:0033362": "epileptic encephalopathy, early infantile, 53", "MONDO:0033363": "epileptic encephalopathy, early infantile, 54", "MONDO:0033364": "epileptic encephalopathy, early infantile, 55", "MONDO:0033365": "epileptic encephalopathy, early infantile, 56", "MONDO:0033366": "epileptic encephalopathy, early infantile, 57", "MONDO:0033367": "epileptic encephalopathy, early infantile, 58", "MONDO:0033368": "epileptic encephalopathy, early infantile, 59", "MONDO:0033369": "epileptic encephalopathy, early infantile, 60", "MONDO:0033370": "epileptic encephalopathy, early infantile, 61", "MONDO:0033371": "epileptic encephalopathy, early infantile, 62", "MONDO:0033372": "epileptic encephalopathy, early infantile, 63", "MONDO:0033373": "epileptic encephalopathy, early infantile, 64", "MONDO:0033374": "epileptic encephalopathy, early infantile, 65", "MONDO:0033375": "orofaciodigital syndrome 17", "MONDO:0033483": "erythrocytosis, familial, 5", "MONDO:0033485": "short-rib thoracic dysplasia 19 with or without polydactyly", "MONDO:0033486": "leukodystrophy, hypomyelinating, 14", "MONDO:0033492": "Coffin-Siris syndrome 6", "MONDO:0033493": "fibromatosis, gingival, 5", "MONDO:0033532": "Suleiman-El-Hattab syndrome", "MONDO:0033533": "combined oxidative phosphorylation deficiency 45", "MONDO:0033534": "combined oxidative phosphorylation deficiency 46", "MONDO:0033537": "combined oxidative phosphorylation deficiency 47", "MONDO:0033541": "immunodeficiency 69", "MONDO:0033542": "immunodeficiency 70", "MONDO:0033543": "cone-rod synaptic disorder syndrome, congenital nonprogressive", "MONDO:0033544": "Tolchin-Le Caignec syndrome", "MONDO:0033545": "mitochondrial DNA depletion syndrome 19", "MONDO:0033546": "neurodegeneration, infantile-onset, biotin-responsive", "MONDO:0033547": "Li-Ghorbani-Weisz-Hubshman syndrome", "MONDO:0033548": "myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies", "MONDO:0033549": "optic atrophy 12", "MONDO:0033550": "obsolete high density lipoprotein cholesterol level quantitative trait locus 7", "MONDO:0033551": "immunodeficiency 72 with autoinflammation", "MONDO:0033552": "obsolete blood group, lewis system", "MONDO:0033554": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", "MONDO:0033555": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia", "MONDO:0033556": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15", "MONDO:0033557": "hemophagocytic lymphohistiocytosis, familial, 6", "MONDO:0033558": "autoinflammation, immune dysregulation, and eosinophilia", "MONDO:0033559": "intellectual developmental disorder with seizures and language delay", "MONDO:0033560": "mitochondrial complex 1 deficiency, nuclear type 35", "MONDO:0033561": "deeah syndrome", "MONDO:0033562": "neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia", "MONDO:0033563": "retinitis pigmentosa 90", "MONDO:0033564": "oocyte maturation defect 8", "MONDO:0033565": "oocyte maturation defect 9", "MONDO:0033566": "combined oxidative phosphorylation deficiency 48", "MONDO:0033569": "combined oxidative phosphorylation deficiency 49", "MONDO:0033570": "combined oxidative phosphorylation deficiency 50", "MONDO:0033571": "obsolete skeletal muscle glycogen content and metabolism quantitative trait locus", "MONDO:0033572": "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies", "MONDO:0033615": "coenzyme q10 deficiency, primary, 9", "MONDO:0033618": "Vissers-Bodmer syndrome", "MONDO:0033619": "myopathy, epilepsy, and progressive cerebral atrophy", "MONDO:0033620": "myofibrillar myopathy 10", "MONDO:0033621": "spinal muscular atrophy, infantile, James type", "MONDO:0033622": "spermatogenic failure 44", "MONDO:0033630": "neurodevelopmental disorder with speech impairment and dysmorphic facies", "MONDO:0033631": "combined oxidative phosphorylation deficiency 51", "MONDO:0033635": "mitochondrial complex 4 deficiency, nuclear type 3", "MONDO:0033636": "mitochondrial complex 4 deficiency, nuclear type 4", "MONDO:0033637": "mitochondrial complex 4 deficiency, nuclear type 7", "MONDO:0033638": "mitochondrial complex 4 deficiency, nuclear type 8", "MONDO:0033639": "mitochondrial complex 4 deficiency, nuclear type 10", "MONDO:0033640": "vitamin D-dependent rickets, type 3", "MONDO:0033641": "cleft palate, proliferative retinopathy, and developmental delay", "MONDO:0033643": "inflammatory bowel disease 30", "MONDO:0033644": "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1", "MONDO:0033645": "mitochondrial complex 4 deficiency, nuclear type 11", "MONDO:0033646": "mitochondrial complex 4 deficiency, nuclear type 12", "MONDO:0033649": "mitochondrial complex 4 deficiency, nuclear type 14", "MONDO:0033650": "mitochondrial complex 4 deficiency, nuclear type 15", "MONDO:0033651": "mitochondrial complex 4 deficiency, nuclear type 16", "MONDO:0033652": "mitochondrial complex 4 deficiency, nuclear type 17", "MONDO:0033653": "mitochondrial complex 4 deficiency, nuclear type 18", "MONDO:0033654": "mitochondrial complex 4 deficiency, nuclear type 19", "MONDO:0033655": "mitochondrial complex 4 deficiency, nuclear type 20", "MONDO:0033656": "mitochondrial complex 4 deficiency, nuclear type 21", "MONDO:0033657": "leukodystrophy, hypomyelinating, 20", "MONDO:0033658": "neurodevelopmental disorder with seizures and brain atrophy", "MONDO:0033662": "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy", "MONDO:0033664": "Kilquist syndrome", "MONDO:0033665": "hearing loss, autosomal dominant 78", "MONDO:0033667": "Delpire-McNeill syndrome", "MONDO:0033668": "hearing loss, autosomal dominant 79", "MONDO:0033669": "Noonan syndrome 13", "MONDO:0033670": "hearing loss, autosomal recessive 116", "MONDO:0033671": "spermatogenic failure 45", "MONDO:0033673": "spermatogenic failure 46", "MONDO:0036482": "retinitis pigmentosa 81", "MONDO:0036483": "short-rib thoracic dysplasia 18 with polydactyly", "MONDO:0036484": "Charcot-Marie-Tooth disease, dominant intermediate G", "MONDO:0040500": "glycosylphosphatidylinositol biosynthesis defect 16", "MONDO:0040501": "ehlers-danlos syndrome, arthrochalasia type, 2", "MONDO:0040502": "glucocorticoid deficiency 5", "MONDO:0040503": "blepharocheilodontic syndrome 2", "MONDO:0042486": "polyposis syndrome, hereditary mixed, 1", "MONDO:0042490": "neutropenia, severe congenital, 1, autosomal dominant", "MONDO:0042499": "benign familial neonatal-infantile seizures 1", "MONDO:0042975": "pseudoachondroplastic dysplasia 2", "MONDO:0042977": "trichoepithelioma, multiple familial, 1", "MONDO:0042979": "hypokalemic periodic paralysis, type 1", "MONDO:0043003": "familial acanthosis nigricans", "MONDO:0043364": "eosinophil peroxidase deficiency", "MONDO:0044204": "Shwachman-Diamond syndrome 1", "MONDO:0044205": "Shwachman-Diamond syndrome 2", "MONDO:0044206": "otospondylomegaepiphyseal dysplasia, autosomal recessive", "MONDO:0044207": "specific granule deficiency 1", "MONDO:0044208": "specific granule deficiency 2", "MONDO:0044214": "obsolete androstenone, ability to smell", "MONDO:0044215": "obsolete arm folding preference", "MONDO:0044216": "obsolete artichoke, modification of taste by", "MONDO:0044217": "obsolete asparagus, specific smell hypersensitivity", "MONDO:0044218": "obsolete beeturia", "MONDO:0044219": "obsolete blood group, duffy system", "MONDO:0044220": "obsolete blood group, 1 system", "MONDO:0044221": "obsolete blood group--lutheran inhibitor", "MONDO:0044222": "obsolete blood group, p1pk system", "MONDO:0044223": "obsolete radin blood group antigen", "MONDO:0044224": "obsolete apocrine gland secretion, variation 1n", "MONDO:0044227": "obsolete dimples, facial", "MONDO:0044228": "obsolete eegbqtl", "MONDO:0044229": "obsolete epiblepharon of lower 51d", "MONDO:0044230": "obsolete epiblepharon of upper 51d", "MONDO:0044231": "obsolete eyebrow, whorl 1n", "MONDO:0044232": "obsolete fingers, relative length of", "MONDO:0044233": "obsolete hair whorl", "MONDO:0044234": "obsolete hrm2", "MONDO:0044235": "obsolete hsr", "MONDO:0044236": "obsolete hepatitis b vaccine, response to", "MONDO:0044237": "obsolete hypercholesterolemia suppressor", "MONDO:0044238": "obsolete lunulae of fingernails", "MONDO:0044239": "obsolete median-ulnar nerve communications", "MONDO:0044240": "obsolete musical perfect pitch", "MONDO:0044241": "obsolete mydriatic response to pharmacologic agents", "MONDO:0044242": "obsolete mydriasis, congenital", "MONDO:0044243": "obsolete nail high-sulfur protein", "MONDO:0044244": "obsolete nail low-sulfur protein", "MONDO:0044245": "obsolete nailbeds, pigmentation of", "MONDO:0044246": "obsolete nystagmus, voluntary", "MONDO:0044247": "obsolete palmomental reflex", "MONDO:0044248": "obsolete thiourea tasting", "MONDO:0044249": "obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1", "MONDO:0044250": "obsolete tongue curling, folding, or rolling", "MONDO:0044251": "obsolete australia antigen", "MONDO:0044252": "obsolete skin/hair/eye pigmentation, variation in, 6", "MONDO:0044253": "obsolete dermatoglyphics--palmar triradius d, absence of", "MONDO:0044254": "obsolete dermatoglyphics--hypothenar radial arch", "MONDO:0044255": "obsolete skin/hair/eye pigmentation, variation in, 1", "MONDO:0044256": "obsolete skin/hair/eye pigmentation, variation in, 5", "MONDO:0044257": "obsolete lutheran null", "MONDO:0044258": "obsolete methane production", "MONDO:0044259": "obsolete skin/hair/eye pigmentation, variation in, 2", "MONDO:0044261": "obsolete menoq1", "MONDO:0044262": "obsolete cyanide, inability to smell", "MONDO:0044264": "obsolete radial loop, plain, on right index finger", "MONDO:0044265": "obsolete tooth size", "MONDO:0044268": "obsolete transsexuality", "MONDO:0044269": "obsolete novelty seeking personality trait", "MONDO:0044270": "obsolete bilirubin, serum level of, quantitative trait locus 1", "MONDO:0044271": "obsolete bone mineral density quantitative trait locus 1", "MONDO:0044272": "obsolete body mass index quantitative trait locus 9", "MONDO:0044273": "obsolete hypertension, diastolic, resistance to", "MONDO:0044274": "obsolete hemoglobin, high altitude adaptation", "MONDO:0044275": "obsolete carotid intimal medial thickness 1", "MONDO:0044276": "obsolete skin/hair/eye pigmentation, variation in, 11", "MONDO:0044277": "obsolete uric acid concentration, serum, quantitative trait locus 4", "MONDO:0044279": "obsolete bone mineral density quantitative trait locus 15", "MONDO:0044280": "obsolete glycerol quantitative trait locus", "MONDO:0044281": "obsolete c3hex, ability to smell", "MONDO:0044282": "obsolete blood group, vel system", "MONDO:0044283": "obsolete body mass index quantitative trait locus 18", "MONDO:0044284": "obsolete blood group, gerbich system", "MONDO:0044299": "myasthenic syndrome, congenital, 22", "MONDO:0044301": "aortic aneurysm, familial thoracic 11, susceptibility to", "MONDO:0044303": "congenital heart defects and ectodermal dysplasia", "MONDO:0044305": "ectodermal dysplasia 13, hair/tooth type", "MONDO:0044308": "bardet-biedl syndrome 21", "MONDO:0044309": "diamond-blackfan anemia 16", "MONDO:0044310": "diamond-blackfan anemia 17", "MONDO:0044311": "brachycephaly, trichomegaly, and developmental delay", "MONDO:0044312": "immunoskeletal dysplasia with neurodevelopmental abnormalities", "MONDO:0044313": "mental retardation, autosomal recessive 60", "MONDO:0044314": "retinitis pigmentosa 78", "MONDO:0044315": "craniosynostosis 7", "MONDO:0044316": "thrombocytopenia, anemia, and myelofibrosis", "MONDO:0044317": "premature ovarian failure 13", "MONDO:0044320": "retinitis pigmentosa 79", "MONDO:0044321": "structural heart defects and renal anomalies syndrome", "MONDO:0044322": "intellectual developmental disorder with neuropsychiatric features", "MONDO:0044324": "Al Kaissi syndrome", "MONDO:0044325": "fanconi anemia, complementation group W", "MONDO:0044326": "developmental delay and seizures with or without movement abnormalities", "MONDO:0044327": "polycystic liver disease 4 with or without kidney cysts", "MONDO:0044328": "short-rib thoracic dysplasia 20 with polydactyly", "MONDO:0044329": "osteogenesis imperfecta, type 18", "MONDO:0044330": "hyperekplexia 4", "MONDO:0044350": "hyperparathyroidism, primary, caused by water clear cell hyperplasia", "MONDO:0044776": "premature ovarian failure 10", "MONDO:0044777": "premature ovarian failure 14", "MONDO:0044871": "dystonia, focal, task-specific", "MONDO:0049221": "myopia 26, X-linked, female-limited", "MONDO:0049222": "intellectual disability, x-linked 107", "MONDO:0049223": "osteogenesis imperfecta, type 19", "MONDO:0054549": "peroxisome biogenesis disorder 10b", "MONDO:0054550": "avascular necrosis of femoral head, primary, 1", "MONDO:0054551": "avascular necrosis of femoral head, primary, 2", "MONDO:0054560": "anauxetic dysplasia 1", "MONDO:0054561": "anauxetic dysplasia 2", "MONDO:0054565": "short-rib thoracic dysplasia 17 with or without polydactyly", "MONDO:0054573": "Lopes-Maciel-Rodan syndrome", "MONDO:0054577": "bleeding disorder, platelet-type, 21", "MONDO:0054581": "Townes-Brocks syndrome 1", "MONDO:0054582": "Townes-Brocks syndrome 2", "MONDO:0054588": "noonan syndrome-like disorder with loose anagen hair 2", "MONDO:0054591": "Stankiewicz-Isidor syndrome", "MONDO:0054593": "microcephaly 18, primary, autosomal dominant", "MONDO:0054601": "pituitary adenoma 5, multiple types", "MONDO:0054602": "gaze palsy, familial horizontal, with progressive scoliosis, 2", "MONDO:0054615": "spermatogenic failure 18", "MONDO:0054637": "Noonan syndrome-like disorder with loose anagen hair 1", "MONDO:0054654": "combined oxidative phosphorylation deficiency 32", "MONDO:0054665": "pituitary adenoma 3, multiple types", "MONDO:0054666": "ovarian dysgenesis 5", "MONDO:0054677": "combined oxidative phosphorylation deficiency 33", "MONDO:0054691": "immunodeficiency, common variable, 14", "MONDO:0054695": "myopathy, centronuclear, 6, with fiber-type disproportion", "MONDO:0054696": "immunodeficiency 53", "MONDO:0054697": "immunodeficiency 11b with atopic dermatitis", "MONDO:0054698": "proteasome-associated autoinflammatory syndrome 1", "MONDO:0054699": "proteasome-associated autoinflammatory syndrome 3", "MONDO:0054700": "proteasome-associated autoinflammatory syndrome 2", "MONDO:0054701": "kleefstra syndrome 2", "MONDO:0054708": "retinitis pigmentosa 80", "MONDO:0054716": "microcephaly 19, primary, autosomal recessive", "MONDO:0054722": "geleophysic dysplasia 3", "MONDO:0054723": "spermatogenic failure 19", "MONDO:0054724": "spermatogenic failure 20", "MONDO:0054725": "spermatogenic failure 21", "MONDO:0054726": "spermatogenic failure 22", "MONDO:0054727": "spermatogenic failure 23", "MONDO:0054728": "spermatogenic failure 24", "MONDO:0054729": "spermatogenic failure 25", "MONDO:0054730": "spermatogenic failure 26", "MONDO:0054731": "spermatogenic failure 27", "MONDO:0054732": "spermatogenic failure 28", "MONDO:0054733": "spermatogenic failure 29", "MONDO:0054736": "mosaic variegated aneuploidy syndrome 3", "MONDO:0054737": "Fraser syndrome 1", "MONDO:0054738": "Fraser syndrome 2", "MONDO:0054739": "Fraser syndrome 3", "MONDO:0054740": "blepharocheilodontic syndrome 1", "MONDO:0054742": "combined oxidative phosphorylation deficiency 35", "MONDO:0054743": "polycystic liver disease 3 with or without kidney cysts", "MONDO:0054748": "Fanconi anemia, complementation group S", "MONDO:0054749": "obsolete body mass index quantitative trait locus 19", "MONDO:0054750": "amyotrophic lateral sclerosis, susceptibility to, 24", "MONDO:0054752": "multiple synostoses syndrome 4", "MONDO:0054754": "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8", "MONDO:0054761": "microcephaly 20, primary, autosomal recessive", "MONDO:0054763": "neurodegeneration with brain iron accumulation 7", "MONDO:0054764": "neurodegeneration with brain iron accumulation 8", "MONDO:0054765": "amyloidosis, primary localized cutaneous, 3", "MONDO:0054771": "keratoconus 9", "MONDO:0054776": "epilepsy, familial focal, with variable foci 4", "MONDO:0054780": "elliptocytosis 3", "MONDO:0054781": "combined oxidative phosphorylation deficiency 36", "MONDO:0054782": "leukodystrophy, hypomyelinating, 15", "MONDO:0054791": "leukodystrophy, hypomyelinating, 16", "MONDO:0054794": "hydrocephalus, congenital, 3, with brain anomalies", "MONDO:0054801": "erythrocytosis, familial, 6", "MONDO:0054802": "erythrocytosis, familial, 7", "MONDO:0054804": "microcephaly 21, primary, autosomal recessive", "MONDO:0054805": "microcephaly 22, primary, autosomal recessive", "MONDO:0054806": "microcephaly 23, primary, autosomal recessive", "MONDO:0054817": "leukodystrophy, hypomyelinating, 17", "MONDO:0054831": "Coffin-Siris syndrome 7", "MONDO:0054832": "corneal dystrophy, posterior polymorphous, 4", "MONDO:0054835": "parkinsonism-dystonia, infantile, 1", "MONDO:0054837": "mental retardation, autosomal dominant 57", "MONDO:0054838": "cardiomyopathy, familial hypertrophic 27", "MONDO:0054842": "polycystic kidney disease 6 with or without polycystic liver disease", "MONDO:0054843": "ciliary dyskinesia, primary, 38", "MONDO:0054844": "pontocerebellar hypoplasia, type 1d", "MONDO:0054845": "epileptic encephalopathy, early infantile, 66", "MONDO:0054846": "epilepsy, familial adult myoclonic, 6", "MONDO:0054847": "epilepsy, familial adult myoclonic, 7", "MONDO:0054849": "inflammatory bowel disease 29", "MONDO:0054850": "ovarian dysgenesis 6", "MONDO:0054852": "peeling skin syndrome 6", "MONDO:0054860": "deafness, autosomal recessive 110", "MONDO:0054861": "intellectual disability, autosomal recessive 63", "MONDO:0054862": "premature ovarian failure 15", "MONDO:0056795": "X-linked spermatogenic failure 1", "MONDO:0056797": "neurodevelopmental disorder with midbrain and hindbrain malformations", "MONDO:0056822": "amyotonia congenita", "MONDO:0060455": "X-linked congenital hemolytic anemia", "MONDO:0060456": "cerebral sclerosis, diffuse, scholz type", "MONDO:0060457": "autoinflammation with arthritis and dyskeratosis", "MONDO:0060486": "arthrogryposis multiplex congenita, neurogenic, with myelin defect", "MONDO:0060489": "46,XX sex reversal 4", "MONDO:0060491": "neurodevelopmental disorder with involuntary movements", "MONDO:0060496": "neurodevelopmental disorder with hypotonia, neuropathy, and deafness", "MONDO:0060527": "maleylacetoacetate isomerase deficiency", "MONDO:0060550": "polydactyly, postaxial, type a7", "MONDO:0060551": "cerebellar atrophy, developmental delay, and seizures", "MONDO:0060554": "vertebral, cardiac, renal, and limb defects syndrome 1", "MONDO:0060555": "vertebral, cardiac, renal, and limb defects syndrome 2", "MONDO:0060562": "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities", "MONDO:0060577": "neurodevelopmental disorder with microcephaly, ataxia, and seizures", "MONDO:0060583": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease", "MONDO:0060585": "neuronopathy, distal hereditary motor, type 9", "MONDO:0060589": "facial palsy, congenital, with ptosis and velopharyngeal dysfunction", "MONDO:0060591": "immunodeficiency, developmental delay, and hypohomocysteinemia", "MONDO:0060592": "Sweeney-Cox syndrome", "MONDO:0060593": "actn3 deficiency", "MONDO:0060596": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", "MONDO:0060621": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy", "MONDO:0060624": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter", "MONDO:0060629": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive", "MONDO:0060640": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy", "MONDO:0060641": "neurodevelopmental disorder with or without seizures and gait abnormalities", "MONDO:0060642": "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features", "MONDO:0060650": "Leber congenital amaurosis with early-onset deafness", "MONDO:0060659": "neurodevelopmental disorder with poor language and loss of hand skills", "MONDO:0060662": "Diamond-Blackfan anemia-like", "MONDO:0060663": "congenital heart defects, multiple types, 5", "MONDO:0060664": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities", "MONDO:0060666": "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome", "MONDO:0060670": "amyotrophic lateral sclerosis, susceptibility to, 25", "MONDO:0060671": "epilepsy, juvenile myoclonic, susceptibility to, 10", "MONDO:0060677": "chromosome 1p35 deletion syndrome", "MONDO:0060688": "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency", "MONDO:0060690": "phenytoin toxicity", "MONDO:0060702": "spondyloepimetaphyseal dysplasia, di rocco type", "MONDO:0060704": "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures", "MONDO:0060711": "Jaberi-Elahi syndrome", "MONDO:0060713": "deafness, congenital heart defects, and posterior embryotoxon", "MONDO:0060714": "tumoral calcinosis, hyperphosphatemic, familial, 2", "MONDO:0060715": "tumoral calcinosis, hyperphosphatemic, familial, 3", "MONDO:0060724": "glycosylphosphatidylinositol biosynthesis defect 17", "MONDO:0060729": "protoporphyria, erythropoietic, 2", "MONDO:0060732": "tetraamelia syndrome 2", "MONDO:0060733": "humerofemoral hypoplasia with radiotibial ray deficiency", "MONDO:0060745": "intellectual developmental disorder with or without epilepsy or cerebellar ataxia", "MONDO:0060752": "neurodevelopmental disorder with spasticity and poor growth", "MONDO:0060758": "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits", "MONDO:0060760": "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities", "MONDO:0060761": "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum", "MONDO:0060764": "tetraamelia syndrome 1", "MONDO:0100003": "susceptibility to angioedema induced by ACE inhibitors", "MONDO:0100042": "cardiac conduction defect", "MONDO:0100044": "acrofrontofacionasal dysostosis 1", "MONDO:0100045": "epidermodysplasia verruciformis, susceptibility to, 1", "MONDO:0100046": "exfoliation syndrome, susceptibility to", "MONDO:0100048": "graft-versus-host disease, susceptibility to", "MONDO:0100058": "hypervalinemia and hyperleucine-isoleucinemia", "MONDO:0100079": "epileptic encephalopathy, early infantile, 6", "MONDO:0100082": "LEOPARD syndrome 1", "MONDO:0100083": "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1", "MONDO:0100092": "myoclonus, familial, 2", "MONDO:0100093": "myoclonus, familial, 1", "MONDO:0100095": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures", "MONDO:0100102": "fetal akinesia deformation sequence 2", "MONDO:0100103": "fetal akinesia deformation sequence 3", "MONDO:0100104": "fetal akinesia deformation sequence 4", "MONDO:0100105": "brain small vessel disease 3", "MONDO:0100111": "focal segmental glomerulosclerosis and neurodevelopmental syndrome", "MONDO:0100119": "Knobloch syndrome 2", "MONDO:0100129": "intracranial arachoid cyst", "MONDO:0100151": "nephropathic cystinosis", "MONDO:0100156": "Imerslund-Grasbeck syndrome type 1", "MONDO:0100157": "Imerslund-Grasbeck syndrome type 2", "MONDO:0100165": "permanent neonatal diabetes mellitus 1", "MONDO:0100177": "allergic rhinitis, susceptibility to", "MONDO:0100180": "diabetes mellitus, ketosis-prone", "MONDO:0100183": "radioulnar synostosis, nonsyndromic, susceptibility to", "MONDO:0100213": "IFAP syndrome 1, with or without BRESHECK syndrome", "MONDO:0100217": "developmental delay with short stature, dysmorphic facial features, and sparse hair 2", "MONDO:0100218": "arthrogryposis multiplex congenita 5", "MONDO:0100219": "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant", "MONDO:0100220": "Rajab interstitial lung disease with brain calcifications 2", "MONDO:0100221": "IFAP syndrome 2", "MONDO:0100224": "mitochondrial complex I deficiency, nuclear type 1", "MONDO:0100226": "parasomnia, sleepwalking type", "MONDO:0100232": "psoriatic arthritis, susceptibility to", "MONDO:0100250": "46,XX sex reversal 1", "MONDO:0100252": "tumoral calcinosis, hyperphosphatemic, familial, 1", "MONDO:0100281": "macroglobulinemia, Waldenstrom, 1", "MONDO:0100285": "extrahepatic biliary atresia", "MONDO:0100288": "enhanced S-cone syndrome", "MONDO:0100292": "Carey-Fineman-Ziter syndrome 2", "MONDO:0100295": "Alzheimer disease, susceptibility to, mitochondrial", "MONDO:0100296": "Olmsted syndrome 1", "MONDO:0100297": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1", "MONDO:0100302": "LADD syndrome 1", "MONDO:0100303": "ichthyosis, annular epidermolytic 1", "MONDO:0100316": "long QT syndrome 1", "MONDO:0100340": "Friedreich ataxia 1", "MONDO:0100348": "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities", "MONDO:0100352": "episodic kinesigenic dyskinesia 1", "MONDO:0100433": "ACTB-associated syndromic thrombocytopenia", "MONDO:0100435": "Schwartz-Jampel syndrome type 1", "MONDO:0100436": "cataract 2, multiple types", "MONDO:0100457": "achalasia, familial esophageal", "MONDO:0100460": "tobacco addiction, susceptibility to", "MONDO:0100467": "preeclampsia/eclampsia 1", "MONDO:0100468": "Batten-Turner congenital myopathy", "MONDO:0100469": "anosmia, isolated congenital, X-linked", "MONDO:0100476": "lipodystrophy, partial, acquired, susceptibility to", "MONDO:0100478": "brain malformations with or without urinary tract defects", "MONDO:0100486": "adult acne", "MONDO:0100488": "CDH1-related diffuse gastric and lobular breast cancer syndrome", "MONDO:0100489": "Graves disease, susceptibility to, 1", "MONDO:0100490": "breasts and/or nipples, aplasia or hypoplasia of, 1", "MONDO:0100518": "hereditary attention deficit-hyperactivity disorder", "MONDO:0100519": "epilepsy, idiopathic generalized, susceptibility to, 17", "MONDO:0100522": "hypotrichosis 4", "MONDO:0100531": "Emery-Dreifuss muscular dystrophy 1, X-linked", "MONDO:0100532": "blepharospasm, benign essential, susceptibility to", "MONDO:0100533": "hemorrhage, intracerebral, susceptibility to", "MONDO:0100553": "OPTN-related open angle glaucoma", "MONDO:0100607": "ciliary dyskinesia, primary, 54", "MONDO:0200001": "obsolete chromate resistance", "MONDO:0600024": "familial idiopathic inflammatory myopathy", "MONDO:0700039": "bladder exstrophy-epispadias-cloacal extrophy complex", "MONDO:0700041": "neuroblastoma, susceptibility to, 2", "MONDO:0700060": "leukemia, acute, X-linked", "MONDO:0700077": "vitiligo-associated multiple autoimmune disease susceptibility 6", "MONDO:0700087": "Usher syndrome type 1B", "MONDO:0700089": "paroxysmal nonkinesigenic dyskinesia 1", "MONDO:0700090": "epilepsy, familial temporal lobe, 1", "MONDO:0700107": "chromosome 19q13.11 deletion syndrome, distal", "MONDO:0700112": "heterotaxy, visceral, 5, autosomal", "MONDO:0700245": "epidermolytic hyperkeratosis 2B, autosomal recessive", "MONDO:0700248": "epidermolytic hyperkeratosis 2A, autosomal dominant", "MONDO:0700249": "epidermolytic hyperkeratosis 1", "MONDO:0700250": "mitochondrial complex IV deficiency, nuclear type 1", "MONDO:0700286": "leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical", "MONDO:0700288": "early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy", "MONDO:0700290": "spermatogenic failure 98", "MONDO:0700295": "leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical", "MONDO:0700297": "homocystinuria-megaloblastic anemia cblD type", "MONDO:0700298": "isolated methylmalonic aciduria cblD type", "MONDO:0700299": "ACTH-independent macronodular adrenal hyperplasia-3", "MONDO:0700300": "achalasia-progeroid syndrome", "MONDO:0700301": "Fischer-Zirnsak progeroid syndrome", "MONDO:0700338": "autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant", "MONDO:0800001": "delayed sleep phase syndrome, susceptibility to", "MONDO:0800042": "restrictive dermopathy 1", "MONDO:0800047": "macrothrombocytopenia, isolated, 1, autosomal dominant", "MONDO:0800103": "COACH syndrome 1", "MONDO:0800104": "immunodeficiency 105", "MONDO:0800129": "autoinflammatory disease, X-linked", "MONDO:0800130": "autoinflammatory syndrome with immunodeficiency", "MONDO:0800131": "hyper-IgE recurrent infection syndrome 4A, autosomal dominant", "MONDO:0800132": "autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency", "MONDO:0800187": "immunodeficiency 83, susceptibility to viral infections", "MONDO:0800306": "myoclonic epilepsy of Lafora 2", "MONDO:0800341": "congenital myopathy 4A, autosomal dominant", "MONDO:0800437": "Carey-Fineman-Ziter syndrome 1", "MONDO:0800447": "bleeding disorder, platelet-type, 13, susceptibility to", "MONDO:0800455": "Birt-Hogg-Dube syndrome 2", "MONDO:0850514": "inclusion body myopathy and brain white matter abnormalities", "MONDO:0851095": "KINSSHIP syndrome", "MONDO:0859046": "rhabdomyosarcoma, embryonal, 2", "MONDO:0859050": "Schistosoma mansoni infection, susceptibility/resistance to", "MONDO:0859080": "intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies", "MONDO:0859081": "chromosome Xq13 duplication syndrome", "MONDO:0859082": "thrombophilia, X-linked, due to factor 8 defect", "MONDO:0859083": "systemic lupus erythematosus 17", "MONDO:0859085": "neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked", "MONDO:0859086": "intellectual developmental disorder, X-linked 110", "MONDO:0859136": "Alzahrani-Kuwahara syndrome", "MONDO:0859137": "neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia", "MONDO:0859141": "neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia", "MONDO:0859142": "Hiatt-Neu-Cooper neurodevelopmental syndrome", "MONDO:0859144": "Buratti-Harel syndrome", "MONDO:0859146": "growth restriction, hypoplastic kidneys, alopecia, and distinctive facies", "MONDO:0859148": "neurodevelopmental disorder with seizures and gingival overgrowth", "MONDO:0859149": "hypertriglyceridemia 2", "MONDO:0859151": "fibromuscular dysplasia, multifocal", "MONDO:0859152": "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction", "MONDO:0859154": "Bartsocas-Papas syndrome 2", "MONDO:0859155": "chromosome 1p36 deletion syndrome, proximal", "MONDO:0859156": "dysostosis multiplex, Ain-Naz type", "MONDO:0859157": "visceral myopathy 2", "MONDO:0859158": "ataxia, intention tremor, and hypotonia syndrome, childhood-onset", "MONDO:0859159": "deafness, cataract, impaired intellectual development, and polyneuropathy", "MONDO:0859160": "mitochondrial complex IV deficiency, nuclear type 22", "MONDO:0859161": "onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome", "MONDO:0859162": "neurodevelopmental disorder with infantile epileptic spasms", "MONDO:0859163": "Faundes-Banka syndrome", "MONDO:0859164": "osteootohepatoenteric syndrome", "MONDO:0859165": "neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities", "MONDO:0859166": "visceral leiomyopathy, African degenerative", "MONDO:0859167": "hypokalemic tubulopathy and deafness", "MONDO:0859168": "myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy", "MONDO:0859169": "White-Kernohan syndrome", "MONDO:0859170": "retinal dystrophy and microvillus inclusion disease", "MONDO:0859171": "Luo-Schoch-Yamamoto syndrome", "MONDO:0859172": "hemolytic disease of fetus and newborn, RH-induced", "MONDO:0859173": "sick sinus syndrome 4", "MONDO:0859174": "Usmani-Riazuddin syndrome, autosomal dominant", "MONDO:0859175": "nephronophthisis-like nephropathy 2", "MONDO:0859176": "neurodevelopmental disorder with motor and speech delay and behavioral abnormalities", "MONDO:0859177": "VISS syndrome", "MONDO:0859178": "developmental delay, impaired speech, and behavioral abnormalities", "MONDO:0859179": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum", "MONDO:0859180": "bile acid malabsorption, primary, 2", "MONDO:0859181": "DEGCAGS syndrome", "MONDO:0859182": "Short stature, Dauber-Argente type", "MONDO:0859183": "Parkinson disease 24, autosomal dominant, susceptibility to", "MONDO:0859184": "ventriculomegaly and arthrogryposis", "MONDO:0859185": "neurodevelopmental disorder with hypotonia and dysmorphic facies", "MONDO:0859186": "Chopra-Amiel-Gordon syndrome", "MONDO:0859187": "neurodevelopmental disorder with hypotonia and brain abnormalities", "MONDO:0859188": "neurodevelopmental disorder with seizures and brain abnormalities", "MONDO:0859189": "muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome", "MONDO:0859190": "neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities", "MONDO:0859191": "biliary, renal, neurologic, and skeletal syndrome", "MONDO:0859192": "cerebral cavernous malformation 4", "MONDO:0859194": "Boudin-Mortier syndrome", "MONDO:0859196": "Usmani-Riazuddin syndrome, autosomal recessive", "MONDO:0859197": "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies", "MONDO:0859198": "short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies", "MONDO:0859199": "developmental delay with or without intellectual impairment or behavioral abnormalities", "MONDO:0859201": "neurodevelopmental disorder with impaired language and ataxia and with or without seizures", "MONDO:0859202": "developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities", "MONDO:0859203": "rhizomelic dysplasia, Ain-Naz type", "MONDO:0859204": "fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies", "MONDO:0859205": "delayed puberty, self-limited", "MONDO:0859207": "neurodevelopmental disorder with hypotonia and gross motor and speech delay", "MONDO:0859208": "Hengel-Maroofian-Schols syndrome", "MONDO:0859209": "Zaki syndrome", "MONDO:0859210": "chromosome 16q12 duplication syndrome", "MONDO:0859211": "neurodevelopmental disorder with hyperkinetic movements and dyskinesia", "MONDO:0859212": "neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus", "MONDO:0859213": "congenital heart defects, multiple types, 8, with or without heterotaxy", "MONDO:0859214": "Marbach-Schaaf neurodevelopmental syndrome", "MONDO:0859215": "dystonia, early-onset, and/or spastic paraplegia", "MONDO:0859216": "neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis", "MONDO:0859217": "Brunet-Wagner neurodevelopmental syndrome", "MONDO:0859218": "developmental delay with variable neurologic and brain abnormalities", "MONDO:0859220": "Ferguson-Bonni neurodevelopmental syndrome", "MONDO:0859221": "Yoon-Bellen neurodevelopmental syndrome", "MONDO:0859222": "heterotaxy, visceral, 12, autosomal", "MONDO:0859223": "congenital disorder of glycosylation, type Iw, autosomal dominant", "MONDO:0859224": "intellectual disability and myopathy syndrome", "MONDO:0859225": "neurodevelopmental disorder with or without variable movement or behavioral abnormalities", "MONDO:0859226": "craniotubular dysplasia, Ikegawa type", "MONDO:0859228": "combined oxidative phosphorylation deficiency 55", "MONDO:0859229": "cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism", "MONDO:0859230": "Kury-Isidor syndrome", "MONDO:0859231": "macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin", "MONDO:0859232": "neurodevelopmental disorder with central hypotonia and dysmorphic facies", "MONDO:0859233": "epidermolysis bullosa, junctional 6, with pyloric atresia", "MONDO:0859234": "agammaglobulinemia 8b, autosomal recessive", "MONDO:0859235": "auditory neuropathy, autosomal dominant 3", "MONDO:0859236": "neurodevelopmental disorder with neuromuscular and skeletal abnormalities", "MONDO:0859237": "3-methylglutaconic aciduria, type VIIA", "MONDO:0859238": "hypoalphalipoproteinemia, primary, 2, intermediate", "MONDO:0859239": "Chilton-Okur-Chung neurodevelopmental syndrome", "MONDO:0859240": "intellectual developmental disorder with or without peripheral neuropathy", "MONDO:0859241": "neurodegeneration, childhood-onset, with progressive microcephaly", "MONDO:0859242": "leukodystrophy, hypomyelinating, 24", "MONDO:0859243": "neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities", "MONDO:0859244": "phosphoribosylaminoimidazole carboxylase deficiency", "MONDO:0859245": "spinocerebellar ataxia, autosomal recessive 32", "MONDO:0859246": "leukodystrophy, childhood-onset, remitting", "MONDO:0859247": "neurocardiofaciodigital syndrome", "MONDO:0859248": "corneal dystrophy, punctiform and polychromatic pre-descemet", "MONDO:0859249": "parenti-mignot neurodevelopmental syndrome", "MONDO:0859250": "neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures", "MONDO:0859251": "Dentici-Novelli neurodevelopmental syndrome", "MONDO:0859252": "neurodevelopmental disorder with poor growth and skeletal anomalies", "MONDO:0859253": "osteoporosis, childhood- or juvenile-onset, with developmental delay", "MONDO:0859254": "hepatorenocardiac degenerative fibrosis", "MONDO:0859255": "peripheral motor neuropathy, childhood-onset, biotin-responsive", "MONDO:0859256": "neurodevelopmental disorder with language delay and seizures", "MONDO:0859258": "neurodevelopmental disorder with dystonia and seizures", "MONDO:0859260": "Dworschak-Punetha neurodevelopmental syndrome", "MONDO:0859261": "attention deficit-hyperactivity disorder 8", "MONDO:0859262": "ACCES syndrome", "MONDO:0859263": "developmental delay, impaired speech, and behavioral abnormalities, with or without seizures", "MONDO:0859264": "congenital myopathy 11", "MONDO:0859265": "neurodevelopmental disorder with epilepsy and brain atrophy", "MONDO:0859266": "neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy", "MONDO:0859271": "glycosylphosphatidylinositol biosynthesis defect 25", "MONDO:0859272": "neurodevelopmental disorder with speech delay and variable ocular anomalies", "MONDO:0859273": "liver disease, severe congenital", "MONDO:0859274": "neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies", "MONDO:0859275": "neurodevelopmental disorder with spasticity, seizures, and brain abnormalities", "MONDO:0859276": "primordial dwarfism-immunodeficiency-lipodystrophy syndrome", "MONDO:0859277": "intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects", "MONDO:0859278": "keratoderma-ichthyosis-deafness syndrome, autosomal recessive", "MONDO:0859279": "spinal muscular atrophy, distal, autosomal recessive, 6", "MONDO:0859280": "developmental delay, hypotonia, and impaired language", "MONDO:0859281": "intellectual developmental disorder with autism and dysmorphic facies", "MONDO:0859282": "neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures", "MONDO:0859283": "neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities", "MONDO:0859285": "neurodevelopmental disorder with microcephaly, short stature, and speech delay", "MONDO:0859286": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures", "MONDO:0859287": "neurodevelopmental disorder with microcephaly, hypotonia, and absent language", "MONDO:0859288": "bone marrow failure and diabetes mellitus syndrome", "MONDO:0859289": "intestinal dysmotility syndrome", "MONDO:0859290": "familial apolipoprotein gene cluster deletion syndrome", "MONDO:0859292": "developmental delay, behavioral abnormalities, and neuropsychiatric disorders", "MONDO:0859293": "neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment", "MONDO:0859295": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties", "MONDO:0859296": "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss", "MONDO:0859298": "neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly", "MONDO:0859300": "neuronopathy, distal hereditary motor, autosomal dominant 10", "MONDO:0859302": "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2", "MONDO:0859303": "intellectual developmental disorder with ocular anomalies and distinctive facial features", "MONDO:0859304": "neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction", "MONDO:0859305": "neurodevelopmental disorder with eye movement abnormalities and ataxia", "MONDO:0859306": "developmental delay with variable intellectual disability and dysmorphic facies", "MONDO:0859307": "cleidocranial dysplasia 2", "MONDO:0859308": "retinitis pigmentosa 95", "MONDO:0859309": "spastic paraplegia 88, autosomal dominant", "MONDO:0859310": "orofaciodigital syndrome 19", "MONDO:0859311": "Charcot-Marie-Tooth disease, demyelinating, type 1J", "MONDO:0859312": "neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities", "MONDO:0859313": "neurodevelopmental disorder with speech impairment and with or without seizures", "MONDO:0859314": "developmental and epileptic encephalopathy 108", "MONDO:0859316": "iron overload, susceptibility to", "MONDO:0859317": "pseudohypoaldosteronism, type IB2, autosomal recessive", "MONDO:0859318": "pseudohypoaldosteronism, type IB3, autosomal recessive", "MONDO:0859319": "dyskeratosis congenita, autosomal recessive 8", "MONDO:0859320": "mitochondrial complex I deficiency, nuclear type 39", "MONDO:0859321": "mitochondrial complex 3 deficiency, nuclear type 11", "MONDO:0859322": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis", "MONDO:0859323": "combined oxidative phosphorylation deficiency 56", "MONDO:0859325": "developmental and epileptic encephalopathy 109", "MONDO:0859327": "developmental and epileptic encephalopathy 110", "MONDO:0859328": "hypomagnesemia 7, renal, with or without dilated cardiomyopathy", "MONDO:0859329": "mosaic variegated aneuploidy syndrome 4", "MONDO:0859330": "oocyte maturation defect 13", "MONDO:0859331": "Rabin-Pappas syndrome", "MONDO:0859332": "cortical dysplasia, complex, with other brain malformations 11", "MONDO:0859333": "intellectual developmental disorder, autosomal dominant 70", "MONDO:0859334": "spinocerebellar ataxia 50", "MONDO:0859335": "congenital myopathy 15", "MONDO:0859336": "muscular dystrophy, congenital, with or without seizures", "MONDO:0859337": "combined oxidative phosphorylation deficiency 57", "MONDO:0859338": "spermatogenic failure 78", "MONDO:0859339": "tooth agenesis, selective, 10", "MONDO:0859341": "hypotrichosis 15", "MONDO:0859342": "microcephaly 30, primary, autosomal recessive", "MONDO:0859346": "mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition", "MONDO:0859347": "neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities", "MONDO:0859350": "neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies", "MONDO:0859351": "obesity and hypopigmentation", "MONDO:0859352": "spermatogenic failure 79", "MONDO:0859353": "ciliary dyskinesia, primary, 49, without situs inversus", "MONDO:0859354": "thyroid hormone metabolism, abnormal, 3", "MONDO:0859355": "inflammatory poikiloderma with hair abnormalities and acral keratoses", "MONDO:0859356": "congenital disorder of glycosylation, type IIy", "MONDO:0859357": "congenital disorder of glycosylation, type IIz", "MONDO:0859358": "cardiomyopathy, dilated, 2H", "MONDO:0859360": "spinocerebellar ataxia, autosomal recessive 33", "MONDO:0859361": "neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia", "MONDO:0859362": "hyperinsulinemic hypoglycemia, familial, 8", "MONDO:0859363": "spastic paraplegia 79A, autosomal dominant, with ataxia", "MONDO:0859364": "spermatogenic failure 80", "MONDO:0859365": "neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures", "MONDO:0859366": "hearing loss, autosomal dominant 85", "MONDO:0859367": "retinitis pigmentosa 96", "MONDO:0859368": "short QT syndrome 7", "MONDO:0859369": "joint contractures, osteochondromas, and B-cell lymphoma", "MONDO:0859370": "respiratory infections, recurrent, and failure to thrive with or without diarrhea", "MONDO:0859371": "rhabdomyolysis, susceptibility to, 1", "MONDO:0859372": "cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies", "MONDO:0859373": "intellectual developmental disorder, autosomal recessive 78", "MONDO:0859374": "hearing loss, autosomal recessive 120", "MONDO:0859375": "developmental delay with hypotonia, myopathy, and brain abnormalities", "MONDO:0859376": "hydrocephalus, congenital, 5, susceptibility to", "MONDO:0859377": "neurodevelopmental disorder with poor growth and behavioral abnormalities", "MONDO:0859378": "leukodystrophy, hypomyelinating, 25", "MONDO:0859379": "lymphatic malformation 13", "MONDO:0859380": "episodic kinesigenic dyskinesia 3", "MONDO:0859381": "cardiomyopathy, dilated, 100", "MONDO:0859382": "cataract 50 with or without glaucoma", "MONDO:0859477": "spermatogenic failure, X-linked, 5", "MONDO:0859478": "spermatogenic failure, X-linked, 6", "MONDO:0859514": "congenital myopathy 18", "MONDO:0859515": "congenital myopathy 10b, mild variant", "MONDO:0859516": "neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum", "MONDO:0859517": "congenital myopathy 2b, severe infantile, autosomal recessive", "MONDO:0859518": "leukodystrophy, hypomyelinating, 26, with chondrodysplasia", "MONDO:0859519": "neurodevelopmental disorder with absent speech and movement and behavioral abnormalities", "MONDO:0859520": "mitochondrial complex IV deficiency, nuclear type 23", "MONDO:0859521": "oocyte maturation defect 14", "MONDO:0859522": "spermatogenic failure 81", "MONDO:0859523": "congenital myopathy 2c, severe infantile, autosomal dominant", "MONDO:0859524": "hearing loss, autosomal dominant 86", "MONDO:0859525": "hearing loss, autosomal dominant 87", "MONDO:0859526": "immunodeficiency 109 with lymphoproliferation", "MONDO:0859527": "hearing loss, autosomal dominant 88", "MONDO:0859528": "hearing loss, autosomal dominant 89", "MONDO:0859529": "amyotrophic lateral sclerosis 27, juvenile", "MONDO:0859530": "myopathy, sarcoplasmic body", "MONDO:0859531": "neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures", "MONDO:0859532": "congenital heart defects, multiple types, 9", "MONDO:0859564": "epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features", "MONDO:0859565": "atrioventricular septal defect", "MONDO:0859567": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2", "MONDO:0859568": "macular dystrophy, retinal, 4", "MONDO:0859569": "Braddock-Carey syndrome 1", "MONDO:0859570": "braddock-carey syndrome 2", "MONDO:0859571": "diaphragmatic hernia 4, with cardiovascular defects", "MONDO:0859572": "cardiac valvular dysplasia 2", "MONDO:0859573": "bent bone dysplasia syndrome 2", "MONDO:0859574": "ichthyosis, annular epidermolytic, 2", "MONDO:0859575": "Atelis syndrome 1", "MONDO:0859576": "Atelis syndrome 2", "MONDO:0859577": "lacrimoauriculodentodigital syndrome 2", "MONDO:0859578": "lacrimoauriculodentodigital syndrome 3", "MONDO:0957202": "spermatogenic failure, X-linked, 7", "MONDO:0957203": "intellectual developmental disorder, X-linked 111", "MONDO:0957204": "autoinflammation with pulmonary and cutaneous vasculitis", "MONDO:0957208": "pituitary hormone deficiency, combined or isolated, 8", "MONDO:0957210": "neurooculorenal syndrome", "MONDO:0957211": "neurodegeneration and seizures due to copper transport defect", "MONDO:0957215": "congenital myopathy 20", "MONDO:0957216": "premature ovarian failure 21", "MONDO:0957217": "cortical dysplasia, complex, with other brain malformations 12", "MONDO:0957218": "neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities", "MONDO:0957220": "oocyte/zygote/embryo maturation arrest 17", "MONDO:0957221": "spastic paraplegia 70, autosomal recessive", "MONDO:0957224": "congenital myopathy 21 with early respiratory failure", "MONDO:0957225": "neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities", "MONDO:0957228": "intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities", "MONDO:0957229": "hatipoglu immunodeficiency syndrome", "MONDO:0957230": "oocyte/zygote/embryo maturation arrest 18", "MONDO:0957231": "oocyte/zygote/embryo maturation arrest 19", "MONDO:0957240": "cone-rod dystrophy 24", "MONDO:0957247": "congenital myopathy 22A, classic", "MONDO:0957248": "developmental and epileptic encephalopathy, 31B", "MONDO:0957249": "spermatogenic failure 82", "MONDO:0957250": "spermatogenic failure 83", "MONDO:0957252": "ciliary dyskinesia, primary, 50", "MONDO:0957253": "diarrhea 13", "MONDO:0957254": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A", "MONDO:0957255": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 7", "MONDO:0957260": "combined low LDL and fibrinogen", "MONDO:0957261": "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7", "MONDO:0957262": "osteopetrosis, autosomal recessive 9", "MONDO:0957263": "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8", "MONDO:0957264": "cerebroretinal microangiopathy with calcifications and cysts 3", "MONDO:0957265": "congenital myopathy 22B, severe fetal", "MONDO:0957266": "RECON progeroid syndrome", "MONDO:0957267": "neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity", "MONDO:0957268": "hypersulfaturia", "MONDO:0957271": "autoinflammatory disease, systemic, with vasculitis", "MONDO:0957273": "Charcot-Marie-Tooth disease, dominant intermediate A", "MONDO:0957274": "spastic paraplegia 89, autosomal recessive", "MONDO:0957278": "oocyte/zygote/embryo maturation arrest 20", "MONDO:0957279": "auditory neuropathy, autosomal dominant 2", "MONDO:0957281": "nemaline myopathy 5B, autosomal recessive, childhood-onset", "MONDO:0957284": "nemaline myopathy 5C, autosomal dominant", "MONDO:0957288": "intellectual developmental disorder, autosomal recessive 79", "MONDO:0957294": "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9", "MONDO:0957301": "spermatogenic failure 84", "MONDO:0957303": "palmoplantar keratoderma, epidermolytic, 2", "MONDO:0957307": "woolly hair-skin fragility syndrome", "MONDO:0957308": "spastic paraplegia 90A, autosomal dominant", "MONDO:0957309": "spastic paraplegia 90B, autosomal recessive", "MONDO:0957314": "retinitis pigmentosa 97", "MONDO:0957382": "multiple mitochondrial dysfunctions syndrome 7", "MONDO:0957385": "dystonia 37, early-onset, with striatal lesions", "MONDO:0957386": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities", "MONDO:0957388": "autoimmune disease, multisystem, infantile-onset, 3", "MONDO:0957396": "ciliary dyskinesia, primary, 51", "MONDO:0957494": "autoinflammatory disease, multisystem, with immune dysregulation, X-linked", "MONDO:0957495": "hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature", "MONDO:0957496": "intellectual developmental disorder, X-linked 112", "MONDO:0957497": "disabling pansclerotic morphea of childhood", "MONDO:0957530": "breast-ovarian cancer, familial, susceptibility to, 5", "MONDO:0957531": "neurodevelopmental disorder with microcephaly and movement abnormalities", "MONDO:0957533": "megalencephalic leukoencephalopathy with subcortical cysts 3", "MONDO:0957534": "megalencephalic leukoencephalopathy with subcortical cysts 4, remitting", "MONDO:0957535": "immunodeficiency 112", "MONDO:0957536": "intellectual developmental disorder, autosomal dominant 73", "MONDO:0957537": "combined oxidative phosphorylation deficiency 58", "MONDO:0957538": "amyotrophic lateral sclerosis 28", "MONDO:0957539": "dystonia 22, juvenile-onset", "MONDO:0957540": "congenital disorder of glycosylation, type IIaa", "MONDO:0957541": "neurodevelopmental disorder with hypotonia and speech delay, with or without seizures", "MONDO:0957542": "dystonia 22, adult-onset", "MONDO:0957543": "auriculocondylar syndrome 4", "MONDO:0957544": "auriculocondylar syndrome 2B", "MONDO:0957545": "cardiomyopathy, dilated, 2I", "MONDO:0957560": "hearing loss, noise-induced, susceptibility to", "MONDO:0957561": "encephalitis, acute, infection-induced, susceptibility to, 12", "MONDO:0957563": "cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay", "MONDO:0957564": "congenital smooth muscle hamartoma, with or without hemihypertrophy", "MONDO:0957572": "thrombocytopenia 9", "MONDO:0957575": "amegakaryocytic thrombocytopenia, congenital, 2", "MONDO:0957576": "Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development", "MONDO:0957577": "variegate porphyria, childhood-onset", "MONDO:0957578": "thrombocytopenia 10", "MONDO:0957580": "bleeding disorder, platelet-type, 25", "MONDO:0957583": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities", "MONDO:0957584": "spermatogenic failure 85", "MONDO:0957588": "neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies", "MONDO:0957593": "spermatogenic failure 86", "MONDO:0957594": "spermatogenic failure 87", "MONDO:0957595": "Ziegler-Huang syndrome", "MONDO:0957779": "neurodevelopmental disorder with language delay and variable cognitive abnormalities", "MONDO:0957780": "developmental and epileptic encephalopathy 111", "MONDO:0957783": "ichthyosis with erythrokeratoderma", "MONDO:0957786": "xerosis and growth failure with immune and pulmonary dysfunction syndrome", "MONDO:0957787": "Fliedner-Zweier syndrome", "MONDO:0957788": "spastic paraplegia 18a, autosomal dominant", "MONDO:0957790": "immune dysregulation, autoimmunity, and autoinflammation", "MONDO:0957791": "neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction", "MONDO:0957795": "arrhythmogenic cardiomyopathy with variable ectodermal abnormalities", "MONDO:0957807": "hyper-IgE syndrome 6, autosomal dominant, with recurrent infections", "MONDO:0957809": "neutropenia, severe congenital, 10, autosomal recessive", "MONDO:0957810": "developmental delay, dysmorphic facies, and brain anomalies", "MONDO:0957811": "Alport syndrome 3b, autosomal recessive", "MONDO:0957812": "developmental and epileptic encephalopathy 112", "MONDO:0957813": "spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia", "MONDO:0957815": "developmental delay with or without epilepsy", "MONDO:0957819": "arthrogryposis, distal, type 12", "MONDO:0957820": "congenital disorder of glycosylation, type IIbb", "MONDO:0957821": "spermatogenic failure 88", "MONDO:0957822": "premature ovarian failure 22", "MONDO:0957824": "optic atrophy 14", "MONDO:0957825": "hearing loss, autosomal recessive 121", "MONDO:0957832": "craniometadiaphyseal osteosclerosis with hip dysplasia", "MONDO:0957870": "leukoencephalopathy with vanishing white matter 2", "MONDO:0957871": "leukoencephalopathy with vanishing white matter 3", "MONDO:0957872": "leukoencephalopathy with vanishing white matter 4", "MONDO:0957873": "leukoencephalopathy with vanishing white matter 5", "MONDO:0957874": "neuronopathy, distal hereditary motor, autosomal recessive 9", "MONDO:0957875": "neuronopathy, distal hereditary motor, autosomal dominant 11", "MONDO:0957876": "neuronopathy, distal hereditary motor, autosomal recessive 10", "MONDO:0957919": "Lui-Jee-Baron syndrome", "MONDO:0957920": "immunodeficiency 113 with autoimmunity and autoinflammation", "MONDO:0957921": "Cornelia de Lange syndrome 6", "MONDO:0957922": "ciliary dyskinesia, primary, 52", "MONDO:0957928": "otosclerosis 11", "MONDO:0957935": "optic atrophy 15", "MONDO:0957953": "Garg-Mishra progeroid syndrome", "MONDO:0957954": "lymphatic malformation 14", "MONDO:0957955": "immunodeficiency 114, folate-responsive", "MONDO:0957958": "spastic paraplegia 72b, autosomal recessive", "MONDO:0957960": "Long-Olsen-Distelmaier syndrome", "MONDO:0957961": "oocyte/zygote/embryo maturation arrest 21", "MONDO:0957978": "optic atrophy 16", "MONDO:0957981": "immunodeficiency 115 with autoinflammation", "MONDO:0957984": "cardiomyopathy, dilated, 2j", "MONDO:0957985": "neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline", "MONDO:0957988": "osteogenesis imperfecta, type 23", "MONDO:0957990": "Tan-Almurshedi syndrome", "MONDO:0957991": "ciliary dyskinesia, primary, 53", "MONDO:0957992": "combined oxidative phosphorylation deficiency 59", "MONDO:0957993": "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6", "MONDO:0957997": "diabetes, deafness, developmental delay, and short stature syndrome", "MONDO:0957999": "intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly", "MONDO:0958000": "thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies", "MONDO:0958001": "Alfadhel syndrome", "MONDO:0958005": "Hoxha-Aliu syndrome", "MONDO:0958006": "spondyloepimetaphyseal dysplasia, Guo-Campeau type", "MONDO:0958009": "spastic ataxia 10, autosomal recessive", "MONDO:0958011": "immunodeficiency 117", "MONDO:0958012": "neurodegeneration with brain iron accumulation 9", "MONDO:0958013": "immunodeficiency, common variable, 15", "MONDO:0958017": "neutropenia, severe congenital, 11, autosomal dominant", "MONDO:0958018": "leukodystrophy, hypomyelinating, 27", "MONDO:0958022": "lipodystrophy, familial partial, type 8", "MONDO:0958023": "lipodystrophy, congenital generalized, type 5", "MONDO:0958030": "immunodeficiency 118", "MONDO:0958034": "lipodystrophy, familial partial, type 9", "MONDO:0958035": "premature ovarian failure 23", "MONDO:0958037": "developmental dysplasia of the hip 3", "MONDO:0958174": "basal cell nevus syndrome 1", "MONDO:0958175": "craniofacial microsomia 1", "MONDO:0958176": "oculopharyngeal muscular dystrophy 1", "MONDO:0958177": "chronic recurrent multifocal osteomyelitis 3", "MONDO:0958178": "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1", "MONDO:0958179": "glycine encephalopathy 1", "MONDO:0958180": "prolonged electroretinal response suppression 1", "MONDO:0958181": "mitochondrial trifunctional protein deficiency 1", "MONDO:0958182": "C1Q deficiency 1", "MONDO:0958183": "Leber-like hereditary optic neuropathy, autosomal recessive 1", "MONDO:0958185": "mitochondrial trifunctional protein deficiency 2", "MONDO:0958186": "hematuria, benign familial, 2", "MONDO:0958187": "C1Q deficiency 2", "MONDO:0958188": "C1Q deficiency 3", "MONDO:0958189": "basal cell nevus syndrome 2", "MONDO:0958190": "prolonged electroretinal response suppression 2", "MONDO:0958191": "nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis", "MONDO:0958192": "glycine encephalopathy 2", "MONDO:0958193": "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2", "MONDO:0958194": "craniofacial microsomia 2", "MONDO:0958195": "oculopharyngeal muscular dystrophy 2", "MONDO:0958196": "epilepsy, early-onset, 3, with or without developmental delay", "MONDO:0958197": "Leber-like hereditary optic neuropathy, autosomal recessive 2", "MONDO:0958199": "myoclonic epilepsy of Lafora 1", "MONDO:0958200": "intellectual developmental disorder, X-linked 113", "MONDO:0958202": "moyamoya disease 7", "MONDO:0958203": "intellectual developmental disorder, autosomal dominant 74", "MONDO:0958204": "intellectual developmental disorder, autosomal recessive 81", "MONDO:0958205": "Yuksel-Vogel-Bauer syndrome", "MONDO:0958206": "spermatogenic failure 89", "MONDO:0958224": "encephalopathy, porphyria-related", "MONDO:0958226": "leukoencephalopathy, porphyria-related", "MONDO:0958227": "polydactyly-macrocephaly syndrome", "MONDO:0958228": "hearing loss, autosomal recessive 122", "MONDO:0958229": "bleeding disorder, vascular-type", "MONDO:0958230": "orofaciodigital syndrome 20", "MONDO:0958232": "hearing loss, autosomal dominant 90", "MONDO:0958233": "Bethlem myopathy 1B", "MONDO:0958234": "Bethlem myopathy 1C", "MONDO:0958235": "Ullrich congenital muscular dystrophy 1B", "MONDO:0958236": "Ullrich congenital muscular dystrophy 1C", "MONDO:0958237": "isolated hyperferritinemia", "MONDO:0958238": "hyperemesis gravidarum, susceptibility to", "MONDO:0958239": "microphthalmia/coloboma 11", "MONDO:0958240": "neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities", "MONDO:0958241": "cardiomyopathy, familial hypertrophic, 30, atrial", "MONDO:0958242": "spermatogenic failure 90", "MONDO:0958277": "hearing loss, autosomal recessive 123", "MONDO:0958279": "megalencephaly-polydactyly syndrome", "MONDO:0958322": "intellectual developmental disorder, X-linked, syndromic 37", "MONDO:0958323": "neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities", "MONDO:0958324": "generalized epilepsy with febrile seizures plus, type 12", "MONDO:0958325": "thrombocytopenia 12 with or without myopathy", "MONDO:0958326": "macular dystrophy with or without cone dysfunction", "MONDO:0958328": "Seckel syndrome 11", "MONDO:0958329": "Jeffries-Lakhani neurodevelopmental syndrome", "MONDO:0958330": "developmental and epileptic encephalopathy 113", "MONDO:0958331": "developmental and epileptic encephalopathy 114", "MONDO:0958332": "neuromuscular disorder, congenital, with dysmorphic facies", "MONDO:0958333": "thrombocytopenia 13, syndromic", "MONDO:0958334": "pulmonary hypertension, primary, 6", "MONDO:0958335": "cutis laxa, autosomal recessive, type 1d", "MONDO:0968944": "intellectual developmental disorder, autosomal recessive 82", "MONDO:0968945": "neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder", "MONDO:0968946": "developmental and epileptic encephalopathy 115", "MONDO:0968947": "neurodevelopmental disorder plus optic atrophy", "MONDO:0968976": "neurodevelopmental disorder with progressive movement abnormalities", "MONDO:0968977": "basal ganglia calcification, idiopathic, 9, autosomal recessive", "MONDO:0968978": "aplasia cutis-enamel dysplasia syndrome", "MONDO:0968979": "neurodevelopmental disorder with hypotonia and seizures", "MONDO:0968980": "otosclerosis 12", "MONDO:0968981": "autosomal recessive nonsyndromic hearing loss 124", "MONDO:0968982": "autoinflammation with episodic fever and immune dysregulation", "MONDO:0968983": "proteasome-associated autoinflammatory syndrome 6", "MONDO:0970943": "spermatogenic failure, X-linked, 8", "MONDO:0970944": "Leigh syndrome, mitochondrial", "MONDO:0970945": "developmental and epileptic encephalopathy 116", "MONDO:0970950": "Rothmund-Thomson syndrome, type 4", "MONDO:0970951": "El Hayek-Chahrour neurodevelopmental disorder", "MONDO:0970952": "spermatogenic failure 91", "MONDO:0970993": "immunodeficiency 119", "MONDO:0970994": "immunodeficiency 120", "MONDO:0970995": "premature ovarian failure 24", "MONDO:0970998": "auroneurodental syndrome", "MONDO:0970999": "spermatogenic failure 92", "MONDO:0971000": "spermatogenic failure 93", "MONDO:0971001": "immunodeficiency 121 with autoinflammation", "MONDO:0971002": "spermatogenic failure 94", "MONDO:0971004": "amyloidosis, hereditary systemic 1", "MONDO:0971005": "MHC class II deficiency 1", "MONDO:0971006": "MHC class I deficiency 1", "MONDO:0971008": "amyloidosis, hereditary systemic 3", "MONDO:0971009": "amyloidosis, hereditary systemic 5", "MONDO:0971010": "amyloidosis, hereditary systemic 6", "MONDO:0971011": "MHC class I deficiency 2", "MONDO:0971012": "MHC class I deficiency 3", "MONDO:0971013": "MHC class II deficiency 2", "MONDO:0971014": "MHC class II deficiency 3", "MONDO:0971015": "MHC class II deficiency 4", "MONDO:0971016": "MHC class II deficiency 5", "MONDO:0971043": "neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities", "MONDO:0971044": "Ehlers-Danlos syndrome, classic-like, 3", "MONDO:0971149": "spastic paraplegia 30b, autosomal recessive", "MONDO:0971150": "neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity", "MONDO:0971151": "immunodeficiency 122", "MONDO:0971152": "hearing loss, autosomal recessive 125", "MONDO:0971170": "prostate cancer, hereditary, X-linked 3", "MONDO:0971171": "muscular dystrophy, limb-girdle, autosomal recessive 29", "MONDO:0971173": "autoinflammation with arthritis and vasculitis", "MONDO:0971174": "multiple mitochondrial dysfunctions syndrome 9b", "MONDO:0971175": "cardiomyopathy, dilated, 2K", "MONDO:0971176": "ovarian dysgenesis 11", "MONDO:0971177": "immunodeficiency 123 with HPV-related verrucosis", "MONDO:0971178": "polycystic kidney disease 8", "MONDO:0971179": "arterial tortuosity-bone fragility syndrome", "MONDO:0975705": "otofacial neurodevelopmental syndrome", "MONDO:0975745": "neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1", "MONDO:0975746": "spastic paraplegia 92, autosomal recessive", "MONDO:0975747": "spermatogenic failure 95", "MONDO:0975748": "Parkinson disease 26, autosomal dominant, susceptibility to", "MONDO:0975749": "immunodeficiency 125", "MONDO:0975761": "immunodeficiency 126, susceptibility to", "MONDO:0975795": "Kariminejad neurodevelopmental syndrome", "MONDO:0975796": "spastic paraplegia 93, autosomal recessive", "MONDO:0975797": "myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities", "MONDO:0975798": "methylmalonic aciduria and homocystinuria, cb1L type", "MONDO:0975799": "brain malformation renal syndrome", "MONDO:0975800": "spinocerebellar ataxia 51", "MONDO:0975801": "encephalopathy, acute transient", "MONDO:0975805": "foveal hypoplasia 3", "MONDO:0975806": "multiple mitochondrial dysfunctions syndrome 10", "MONDO:0975807": "cholestasis, progressive familial intrahepatic, 13", "MONDO:0975808": "congenital myopathy 25", "MONDO:0975809": "microphthalmia/coloboma 13", "MONDO:0975826": "arthrogryposis multiplex congenita 7, X-linked", "MONDO:0975827": "orofaciodigital syndrome 21", "MONDO:0975828": "intellectual developmental disorder, X-linked 114", "MONDO:0975829": "anemia, congenital dyserythropoietic, type IVb", "MONDO:0975830": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2", "MONDO:0975832": "immunodeficiency 127", "MONDO:0975833": "leukodystrophy, hypomyelinating, 28", "MONDO:0975834": "immunodeficiency 128", "MONDO:0975835": "bronchiectasis and nasal polyposis", "MONDO:0975836": "Karayol-Borroto-Haghshenas neurodevelopmental syndrome", "MONDO:0975837": "neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities", "MONDO:0975838": "intellectual developmental disorder, autosomal dominant 75", "MONDO:0975839": "pancreatic agenesis 3", "MONDO:0975840": "retinitis pigmentosa 98", "MONDO:0975841": "fibromatosis, gingival, 6", "MONDO:0975842": "spermatogenic failure 96", "MONDO:0975843": "premature ovarian failure 25", "MONDO:0975846": "congenital disorder of glycosylation, type 1DD", "MONDO:0975847": "autoimmune disease with susceptibility to mycobacterium tuberculosis", "MONDO:0975848": "Morimoto-Ryu-Malicdan neuromuscular syndrome", "MONDO:0975874": "neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities", "MONDO:0975875": "basal ganglia calcification, idiopathic, 10, autosomal recessive", "MONDO:0975877": "neurodevelopmental disorder with variable familial hypercholanemia", "MONDO:0975951": "spastic paraplegia, mitochondrial", "MONDO:0975952": "cerebral cavernous malformations 5", "MONDO:0975953": "Pan-Chung-Bellen syndrome", "MONDO:0975957": "telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature", "MONDO:0975958": "spermatogenic failure 97", "MONDO:0976123": "spermatogenic failure, X-linked, 9", "MONDO:0976124": "intellectual developmental disorder with polymicrogyria and seizures", "MONDO:0976125": "neurodevelopmental disorder with speech or visual impairment and brain hypomyelination", "MONDO:0976126": "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia", "MONDO:0976127": "Muggenthaler-Chowdhury-Chioza syndrome", "MONDO:0976128": "epilepsy, idiopathic generalized, susceptibility to, 19", "MONDO:0976129": "premature ovarian failure 26", "MONDO:0976130": "neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies", "MONDO:0976131": "neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia", "MONDO:0976132": "mitochondrial dna depletion syndrome 21", "MONDO:0976133": "myopathy, myofibrillar, 13, with rimmed vacuoles", "MONDO:0976134": "heterotaxy, visceral, 13, autosomal", "MONDO:0976135": "heterotaxy, visceral, 14, autosomal", "MONDO:0976136": "ocular pterygium-digital keloid dysplasia syndrome", "MONDO:0976137": "oocyte/zygote/embryo maturation arrest 22", "MONDO:0976226": "neuronopathy, distal hereditary motor, autosomal dominant 15", "MONDO:0976227": "Charcot-Marie-tooth disease, axonal, type 2JJ", "MONDO:0976228": "immunodeficiency 132b", "MONDO:0976229": "immunodeficiency 131", "MONDO:0976230": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type", "MONDO:0976231": "intellectual developmental disorder, autosomal recessive 83", "MONDO:0976232": "Perrault syndrome 7", "MONDO:0976233": "neurodevelopmental disorder with progressive spasticity and brain abnormalities", "MONDO:0976234": "tubulointerstitial kidney disease, autosomal dominant 6", "MONDO:0976236": "neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment", "MONDO:8000013": "portal hypertension, noncirrhotic, 1", "MONDO:8000014": "familial antiphospholipid syndrome", "MONDO:8000018": "benign paroxysmal positional vertigo", "MONDO:8000024": "autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD", "OMIM:100050": "AARSKOG SYNDROME, AUTOSOMAL DOMINANT", "OMIM:100640": "ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1", "OMIM:100650": "ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2", "OMIM:100660": "ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 1; ALDH3A1", "OMIM:100670": "ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1; ALDH1B1", "OMIM:100675": "ACETAMINOPHEN METABOLISM", "OMIM:100678": "ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2", "OMIM:100690": "CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1", "OMIM:100710": "CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1; CHRNB1", "OMIM:100720": "CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND", "OMIM:100725": "CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE", "OMIM:100730": "CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE; CHRNG", "OMIM:100740": "ACETYLCHOLINESTERASE; ACHE", "OMIM:100790": "ACHAETE-SCUTE FAMILY bHLH TRANSCRIPTION FACTOR 1; ASCL1", "OMIM:100850": "ACONITASE 2; ACO2", "OMIM:100880": "ACONITASE 1; ACO1", "OMIM:101120": "ACROCEPHALOPOLYSYNDACTYLY TYPE III", "OMIM:102480": "ACROSIN; ACR", "OMIM:102525": "ACROSOMAL VESICLE PROTEIN 1; ACRV1", "OMIM:102540": "ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1", "OMIM:102545": "ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2", "OMIM:102560": "ACTIN, GAMMA-1; ACTG1", "OMIM:102565": "FILAMIN C; FLNC", "OMIM:102570": "REMOVED FROM DATABASE", "OMIM:102573": "ACTININ, ALPHA-2; ACTN2", "OMIM:102574": "ACTININ, ALPHA-3; ACTN3", "OMIM:102575": "ACTININ, ALPHA-1; ACTN1", "OMIM:102576": "ACTIVIN A RECEPTOR, TYPE I; ACVR1", "OMIM:102577": "REPLICATION FACTOR C, SUBUNIT 4; RFC4", "OMIM:102578": "ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML", "OMIM:102579": "REPLICATION FACTOR C, SUBUNIT 1; RFC1", "OMIM:102581": "ACTIVIN A RECEPTOR, TYPE IIA; ACVR2A", "OMIM:102582": "SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3", "OMIM:102593": "ACYLOXYACYL HYDROLASE; AOAH", "OMIM:102595": "ACYLPHOSPHATASE 2, MUSCLE TYPE; ACYP2", "OMIM:102600": "ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT", "OMIM:102610": "ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1", "OMIM:102620": "ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2", "OMIM:102630": "ACTIN, BETA; ACTB", "OMIM:102642": "STEROL O-ACYLTRANSFERASE 1; SOAT1", "OMIM:102645": "ACYLAMINOACYL-PEPTIDE HYDROLASE; APEH", "OMIM:102670": "MUCOSAL VASCULAR ADDRESSIN CELL ADHESION MOLECULE 1; MADCAM1", "OMIM:102680": "ADDUCIN 1; ADD1", "OMIM:102681": "ADDUCIN 2; ADD2", "OMIM:102699": "ADENO-ASSOCIATED VIRUS INTEGRATION SITE 1; AAVS1", "OMIM:102720": "DIPEPTIDYL PEPTIDASE IV; DPP4", "OMIM:102750": "ADENOSINE KINASE; ADK", "OMIM:102770": "ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1", "OMIM:102771": "ADENOSINE MONOPHOSPHATE DEAMINASE 2; AMPD2", "OMIM:102772": "ADENOSINE MONOPHOSPHATE DEAMINASE 3; AMPD3", "OMIM:102775": "ADENOSINE A1 RECEPTOR; ADORA1", "OMIM:102776": "ADENOSINE A2A RECEPTOR; ADORA2A", "OMIM:102910": "ATP SYNTHASE F1, SUBUNIT BETA; ATP5F1B", "OMIM:102920": "REMOVED FROM DATABASE", "OMIM:102930": "REMOVED FROM DATABASE", "OMIM:102940": "REMOVED FROM DATABASE", "OMIM:102970": "REMOVED FROM DATABASE", "OMIM:102980": "ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1", "OMIM:102981": "ADCYAP RECEPTOR, TYPE I; ADCYAP1R1", "OMIM:103000": "ADENYLATE KINASE 1; AK1", "OMIM:103020": "ADENYLATE KINASE 2; AK2", "OMIM:103030": "ADENYLATE KINASE 4; AK4", "OMIM:103060": "ADENYLOSUCCINATE SYNTHETASE; ADSS", "OMIM:103070": "ADENYLATE CYCLASE 8; ADCY8", "OMIM:103071": "ADENYLATE CYCLASE 2; ADCY2", "OMIM:103072": "ADENYLATE CYCLASE 1; ADCY1", "OMIM:103180": "ADP-RIBOSYLATION FACTOR 1; ARF1", "OMIM:103188": "ADP-RIBOSYLATION FACTOR 5; ARF5", "OMIM:103190": "ADP-RIBOSYLATION FACTOR 3; ARF3", "OMIM:103195": "PERILIPIN 2; PLIN2", "OMIM:103220": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4", "OMIM:103230": "ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL", "OMIM:103260": "FERREDOXIN 1; FDX1", "OMIM:103270": "FERREDOXIN REDUCTASE; FDXR", "OMIM:103275": "ADRENOMEDULLIN; ADM", "OMIM:103280": "H19, IMPRINTED MATERNALLY EXPRESSED NONCODING TRANSCRIPT; H19", "OMIM:103320": "AGRIN; AGRN", "OMIM:103390": "AHNAK NUCLEOPROTEIN; AHNAK", "OMIM:103400": "AINHUM", "OMIM:103600": "ALBUMIN; ALB", "OMIM:103700": "ALCOHOL DEHYDROGENASE 1A, CLASS I, ALPHA POLYPEPTIDE; ADH1A", "OMIM:103710": "ALCOHOL DEHYDROGENASE 5, CHI POLYPEPTIDE; ADH5", "OMIM:103720": "ALCOHOL DEHYDROGENASE 1B, CLASS I, BETA POLYPEPTIDE; ADH1B", "OMIM:103730": "ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH1C", "OMIM:103735": "ALCOHOL DEHYDROGENASE 6; ADH6", "OMIM:103740": "ALCOHOL DEHYDROGENASE 4; ADH4", "OMIM:103830": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER A1; AKR1A1", "OMIM:103850": "ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA", "OMIM:103870": "ALDOLASE C, FRUCTOSE-BISPHOSPHATE; ALDOC", "OMIM:103880": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER B1; AKR1B1", "OMIM:103950": "ALPHA-2-MACROGLOBULIN; A2M", "OMIM:104130": "ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY", "OMIM:104145": "AFAMIN; AFM", "OMIM:104150": "ALPHA-FETOPROTEIN; AFP", "OMIM:104155": "ZINC FINGER HOMEOBOX 3; ZFHX3", "OMIM:104160": "GLUCOSIDASE, ALPHA, NEUTRAL AB; GANAB", "OMIM:104170": "N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA", "OMIM:104175": "GLYCOPROTEIN, ALPHA-GALACTOSYLTRANSFERASE 1 PSEUDOGENE; GGTA1P", "OMIM:104180": "GLUCOSIDASE, ALPHA, NEUTRAL C; GANC", "OMIM:104210": "ALPHA-2A-ADRENERGIC RECEPTOR; ADRA2A", "OMIM:104219": "ALPHA-1D-ADRENERGIC RECEPTOR; ADRA1D", "OMIM:104220": "ALPHA-1B-ADRENERGIC RECEPTOR; ADRA1B", "OMIM:104221": "ALPHA-1A-ADRENERGIC RECEPTOR; ADRA1A", "OMIM:104225": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-ASSOCIATED PROTEIN 1; LRPAP1", "OMIM:104230": "FUCOSYLTRANSFERASE 4; FUT4", "OMIM:104240": "ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 4; ST3GAL4", "OMIM:104250": "ALPHA-2C-ADRENERGIC RECEPTOR; ADRA2C", "OMIM:104260": "ALPHA-2B-ADRENERGIC RECEPTOR; ADRA2B", "OMIM:104311": "PRESENILIN 1; PSEN1", "OMIM:104600": "AMENORRHEA-GALACTORRHEA SYNDROME", "OMIM:104610": "AMINE OXIDASE, COPPER-CONTAINING, 1; AOC1", "OMIM:104613": "CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6A; CCT6A", "OMIM:104614": "SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID TRANSPORTER), MEMBER 1; SLC3A1", "OMIM:104615": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 1; SLC7A1", "OMIM:104620": "AMINOACYLASE 1; ACY1", "OMIM:104640": "AMPHIREGULIN; AREG", "OMIM:104650": "AMYLASE, PANCREATIC, A; AMY2A", "OMIM:104660": "AMYLASE, PANCREATIC, B; AMY2B", "OMIM:104700": "AMYLASE, SALIVARY, A; AMY1A", "OMIM:104701": "AMYLASE, SALIVARY, B; AMY1B", "OMIM:104702": "AMYLASE, SALIVARY, C; AMY1C", "OMIM:104750": "SERUM AMYLOID A1; SAA1", "OMIM:104751": "SERUM AMYLOID A2; SAA2", "OMIM:104752": "SERUM AMYLOID A4; SAA4", "OMIM:104760": "AMYLOID BETA A4 PRECURSOR PROTEIN; APP", "OMIM:104770": "AMYLOID P COMPONENT, SERUM; APCS", "OMIM:104775": "AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 1; APLP1", "OMIM:104776": "AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 2; APLP2", "OMIM:105563": "ANAL SPHINCTER DYSPLASIA; ASDP", "OMIM:105565": "ANAL SPHINCTER MYOPATHY, INTERNAL", "OMIM:105570": "ANDROSTENONE, ABILITY TO SMELL", "OMIM:105590": "ALK RECEPTOR TYROSINE KINASE; ALK", "OMIM:105850": "ANGIOGENIN; ANG", "OMIM:106150": "ANGIOTENSINOGEN; AGT", "OMIM:106165": "ANGIOTENSIN II RECEPTOR, TYPE 1; AGTR1", "OMIM:106180": "ANGIOTENSIN I-CONVERTING ENZYME; ACE", "OMIM:106195": "SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 3; SLC4A3", "OMIM:106240": "ANISOCORIA", "OMIM:106410": "ANKYRIN 2; ANK2", "OMIM:106490": "ANNEXIN A3; ANXA3", "OMIM:106491": "ANNEXIN A4; ANXA4", "OMIM:106990": "ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY", "OMIM:107253": "REMOVED FROM DATABASE", "OMIM:107254": "ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY 30.2A8; MIC12", "OMIM:107260": "ANTIGEN MSK41 IDENTIFIED BY MONOCLONAL ANTIBODY E3; MSK41", "OMIM:107265": "CD19 ANTIGEN; CD19", "OMIM:107266": "CD22 ANTIGEN; CD22", "OMIM:107269": "CD44 ANTIGEN; CD44", "OMIM:107270": "CD38 ANTIGEN; CD38", "OMIM:107271": "CD59 ANTIGEN; CD59", "OMIM:107272": "CD72 ANTIGEN; CD72", "OMIM:107273": "CD69 ANTIGEN; CD69", "OMIM:107280": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 3; SERPINA3", "OMIM:107285": "SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI", "OMIM:107290": "ANTIPYRINE METABOLISM", "OMIM:107300": "SERPIN PEPTIDASE INHIBITOR, CLADE C (ANTITHROMBIN), MEMBER 1; SERPINC1", "OMIM:107310": "SOLUTE CARRIER FAMILY 9, MEMBER 1; SLC9A1", "OMIM:107323": "ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1", "OMIM:107325": "POLYMERASE I, RNA, SUBUNIT G; POLR1G", "OMIM:107400": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1; SERPINA1", "OMIM:107410": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 2, PSEUDOGENE; SERPINA2P", "OMIM:107440": "ANTIVIRAL STATE REPRESSOR, REGULATOR OF; AVRR", "OMIM:107450": "INTERFERON-ALPHA, -BETA, AND -OMEGA RECEPTOR 1; IFNAR1", "OMIM:107470": "INTERFERON-GAMMA RECEPTOR 1; IFNGR1", "OMIM:107580": "TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A", "OMIM:107670": "APOLIPOPROTEIN A-II; APOA2", "OMIM:107680": "APOLIPOPROTEIN A-I; APOA1", "OMIM:107690": "APOLIPOPROTEIN A-IV; APOA4", "OMIM:107710": "APOLIPOPROTEIN C-I; APOC1", "OMIM:107720": "APOLIPOPROTEIN C-III; APOC3", "OMIM:107730": "APOLIPOPROTEIN B; APOB", "OMIM:107740": "APOLIPOPROTEIN D; APOD", "OMIM:107741": "APOLIPOPROTEIN E; APOE", "OMIM:107748": "APEX NUCLEASE 1; APEX1", "OMIM:107750": "ARBITRARY RESTRICTION POLYMORPHISM 1", "OMIM:107760": "APOLIPOPROTEIN F; APOF", "OMIM:107770": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1", "OMIM:107773": "NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 2; NR2F2", "OMIM:107776": "AQUAPORIN 1; AQP1", "OMIM:107777": "AQUAPORIN 2; AQP2", "OMIM:107800": "ARCUS CORNEAE", "OMIM:107820": "ARGINYL-tRNA SYNTHETASE 1; RARS1", "OMIM:107830": "ARGINASE 2; ARG2", "OMIM:107850": "ARM FOLDING PREFERENCE", "OMIM:107910": "CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1", "OMIM:107930": "DOPA DECARBOXYLASE; DDC", "OMIM:107940": "ARRESTIN, BETA, 1; ARRB1", "OMIM:107941": "ARRESTIN, BETA, 2; ARRB2", "OMIM:108050": "ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS", "OMIM:108100": "ARTHRITIS, SACROILIAC", "OMIM:108320": "ARTICHOKE, MODIFICATION OF TASTE BY", "OMIM:108330": "CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1", "OMIM:108340": "ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY", "OMIM:108345": "N-ACETYLTRANSFERASE 1; NAT1", "OMIM:108355": "GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2", "OMIM:108360": "ASIALOGLYCOPROTEIN RECEPTOR 1; ASGR1", "OMIM:108361": "ASIALOGLYCOPROTEIN RECEPTOR 2; ASGR2", "OMIM:108370": "ASPARAGINE SYNTHETASE; ASNS", "OMIM:108390": "ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY", "OMIM:108400": "REMOVED FROM DATABASE", "OMIM:108410": "ASPARAGINYL-tRNA SYNTHETASE 1; NARS1", "OMIM:108450": "ASYMMETRIC SHORT STATURE SYNDROME", "OMIM:108728": "ATP CITRATE LYASE; ACLY", "OMIM:108729": "ATP SYNTHASE F1, SUBUNIT GAMMA; ATP5F1C", "OMIM:108730": "ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1", "OMIM:108731": "ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 1; ATP2B1", "OMIM:108732": "ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 4; ATP2B4", "OMIM:108733": "ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2", "OMIM:108740": "ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2", "OMIM:108745": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 16-KD, V0 SUBUNIT C; ATP6V0C", "OMIM:108746": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E1", "OMIM:108780": "NATRIURETIC PEPTIDE PRECURSOR A; NPPA", "OMIM:108960": "NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1", "OMIM:108961": "NATRIURETIC PEPTIDE RECEPTOR 2; NPR2", "OMIM:108962": "NATRIURETIC PEPTIDE RECEPTOR C; NPR3", "OMIM:108980": "PR INTERVAL, VARIATION IN", "OMIM:108990": "ATTACHED CELL ANTIGEN 28.3.7; MIC7", "OMIM:109090": "SMALL RNA-BINDING EXONUCLEASE PROTECTION FACTOR La; SSB", "OMIM:109091": "CALRETICULIN; CALR", "OMIM:109092": "TRIPARTITE MOTIF-CONTAINING PROTEIN 21; TRIM21", "OMIM:109110": "AUTONOMOUSLY REPLICATING SEQUENCE 1", "OMIM:109135": "AXL RECEPTOR TYROSINE KINASE; AXL", "OMIM:109160": "AZOTEMIA, FAMILIAL", "OMIM:109170": "LEUKOCYTE-SPECIFIC TRANSCRIPT 1; LST1", "OMIM:109180": "BABOON M7 VIRUS INTEGRATION SITE; BEVI", "OMIM:109190": "SOLUTE CARRIER FAMILY 1 (NEUTRAL AMINO ACID TRANSPORTER), MEMBER 5; SLC1A5", "OMIM:109195": "BACTERICIDAL PERMEABILITY-INCREASING PROTEIN; BPI", "OMIM:109270": "SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1", "OMIM:109280": "SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 2; SLC4A2", "OMIM:109300": "BANKI SYNDROME", "OMIM:109480": "BASIGIN; BSG", "OMIM:109530": "CD48 ANTIGEN; CD48", "OMIM:109535": "CD40 ANTIGEN; CD40", "OMIM:109540": "B-CELL GROWTH FACTOR; BCGF", "OMIM:109545": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 17; TNFRSF17", "OMIM:109560": "BCL3 TRANSCRIPTION COACTIVATOR; BCL3", "OMIM:109565": "BCL6 TRANSCRIPTION REPRESSOR; BCL6", "OMIM:109580": "B-CELL ANTIPROLIFERATION FACTOR 1; BTG1", "OMIM:109600": "BEETURIA", "OMIM:109610": "TRANSLOCATOR PROTEIN, 18-KD; TSPO", "OMIM:109630": "BETA-1-ADRENERGIC RECEPTOR; ADRB1", "OMIM:109635": "G PROTEIN-COUPLED RECEPTOR KINASE 2; GRK2", "OMIM:109636": "BETA-ADRENERGIC RECEPTOR KINASE 2; ADRBK2", "OMIM:109640": "BETA-GLYCEROL PHOSPHATASE; GPB", "OMIM:109660": "BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT", "OMIM:109670": "BETA-ADRENERGIC STIMULATION, RESPONSE TO; BAS", "OMIM:109675": "ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GAL1", "OMIM:109684": "17-BETA-HYDROXYSTEROID DEHYDROGENASE I; HSD17B1", "OMIM:109685": "17-BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2", "OMIM:109690": "BETA-2-ADRENERGIC RECEPTOR; ADRB2", "OMIM:109691": "BETA-3-ADRENERGIC RECEPTOR; ADRB3", "OMIM:109700": "BETA-2-MICROGLOBULIN; B2M", "OMIM:109710": "BETA-2-MICROGLOBULIN REGULATOR; B2MR", "OMIM:109715": "3-BETA-HYDROXYSTEROID DEHYDROGENASE 1; HSD3B1", "OMIM:109740": "BIFID NOSE, AUTOSOMAL DOMINANT", "OMIM:109750": "BILIVERDIN REDUCTASE A; BLVRA", "OMIM:109760": "5-HYDROXYTRYPTAMINE RECEPTOR 1A; HTR1A", "OMIM:109770": "CEA CELL ADHESION MOLECULE 1; CEACAM1", "OMIM:109780": "BKM DNA", "OMIM:109820": "BLADDER DIVERTICULUM", "OMIM:110250": "BLOOD GROUP--ABO SUPPRESSOR", "OMIM:110300": "ABO GLYCOSYLTRANSFERASE; ABO", "OMIM:110310": "BLOOD GROUP--ABH ANTIGEN, TYPE 2", "OMIM:110350": "BLOOD GROUP--AHONEN; AN", "OMIM:110450": "BLOOD GROUP, COLTON SYSTEM; CO", "OMIM:110500": "BLOOD GROUP, DIEGO SYSTEM; DI", "OMIM:110600": "ADP-RIBOSYLTRANSFERASE 4; ART4", "OMIM:110700": "BLOOD GROUP, DUFFY SYSTEM; FY", "OMIM:110720": "BLOOD GROUP--En", "OMIM:110750": "GLYCOPHORIN C; GYPC", "OMIM:110800": "BLOOD GROUP, I SYSTEM; Ii", "OMIM:110900": "BLOOD GROUP--KELL SYSTEM; KEL", "OMIM:111000": "BLOOD GROUP, KIDD SYSTEM; JK", "OMIM:111100": "FUCOSYLTRANSFERASE 3; FUT3", "OMIM:111130": "BLOOD GROUP--LKE; LKE", "OMIM:111150": "BLOOD GROUP--LUTHERAN INHIBITOR; INLU", "OMIM:111200": "BLOOD GROUP--LUTHERAN SYSTEM; LU", "OMIM:111250": "BLOOD GROUP SYSTEM, LANDSTEINER-WIENER; LW", "OMIM:111300": "BLOOD GROUP, MN; MN", "OMIM:111360": "BLOOD GROUP--NEWFOUNDLAND; NFLD", "OMIM:111380": "BLOOD GROUP--OK; OK", "OMIM:111400": "BLOOD GROUP, P1PK SYSTEM", "OMIM:111500": "BLOOD GROUP--PRIVATE SYSTEMS", "OMIM:111600": "BLOOD GROUP, LANGEREIS SYSTEM; LAN", "OMIM:111620": "RADIN BLOOD GROUP ANTIGEN; RD", "OMIM:111680": "RHESUS BLOOD GROUP, D ANTIGEN; RHD", "OMIM:111690": "BLOOD GROUP, RH SYSTEM", "OMIM:111700": "RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE", "OMIM:111730": "BETA-1,4-N-ACETYL-GALACTOSAMINYLTRANSFERASE 2; B4GALNT2", "OMIM:111740": "BLOOD GROUP, Ss; Ss", "OMIM:111750": "BLOOD GROUP--SCIANNA SYSTEM; SC", "OMIM:111800": "BLOOD GROUP--STOLTZFUS SYSTEM; Sf", "OMIM:112000": "BLOOD GROUP--Ul SYSTEM; UL", "OMIM:112010": "BLOOD GROUP--WALDNER TYPE; WD", "OMIM:112050": "BLOOD GROUP--WRIGHT ANTIGEN; WR", "OMIM:112100": "YT BLOOD GROUP ANTIGEN", "OMIM:112203": "CD80 ANTIGEN; CD80", "OMIM:112205": "CD79A ANTIGEN; CD79A", "OMIM:112210": "MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 1; MS4A1", "OMIM:112260": "GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, BONE; BGLAP", "OMIM:112261": "BONE MORPHOGENETIC PROTEIN 2; BMP2", "OMIM:112262": "BONE MORPHOGENETIC PROTEIN 4; BMP4", "OMIM:112263": "BONE MORPHOGENETIC PROTEIN 3; BMP3", "OMIM:112264": "BONE MORPHOGENETIC PROTEIN 1; BMP1", "OMIM:112265": "BONE MORPHOGENETIC PROTEIN 5; BMP5", "OMIM:112266": "BONE MORPHOGENETIC PROTEIN 6; BMP6", "OMIM:112267": "BONE MORPHOGENETIC PROTEIN 7; BMP7", "OMIM:112430": "LONG-THUMB BRACHYDACTYLY SYNDROME", "OMIM:112440": "BRACHYDACTYLY, COMBINED B AND E TYPES", "OMIM:113450": "BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME", "OMIM:113470": "BRACHYMESOMELIA-RENAL SYNDROME", "OMIM:113475": "BRACHYMETATARSUS IV", "OMIM:113480": "BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME", "OMIM:113503": "BRADYKININ RECEPTOR B2; BDKRB2", "OMIM:113505": "BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF", "OMIM:113508": "TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, ETA ISOFORM; YWHAH", "OMIM:113510": "BRAIN-SPECIFIC PROTEIN Pc-1", "OMIM:113520": "BRANCHED-CHAIN AMINOTRANSFERASE 1; BCAT1", "OMIM:113530": "BRANCHED-CHAIN AMINOTRANSFERASE 2; BCAT2", "OMIM:113703": "RIBOSOMAL PROTEIN L13; RPL13", "OMIM:113705": "BRCA1 DNA REPAIR-ASSOCIATED PROTEIN; BRCA1", "OMIM:113710": "TREFOIL FACTOR 1; TFF1", "OMIM:113721": "BREAST CANCER-RELATED REGULATOR OF TP53", "OMIM:113725": "POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 2; POU4F2", "OMIM:113730": "UNCOUPLING PROTEIN 1; UCP1", "OMIM:113810": "DYSTONIN; DST", "OMIM:113811": "COLLAGEN, TYPE XVII, ALPHA-1; COL17A1", "OMIM:113955": "BUNGAROTOXIN, ALPHA, RECEPTOR FOR; BGTXR", "OMIM:113960": "BUTYRYLESTERASE 1", "OMIM:113995": "COMPLEMENT COMPONENT 5a RECEPTOR 1; C5AR1", "OMIM:114010": "CARBAMOYL PHOSPHATE SYNTHETASE/ASPARTATE TRANSCARBAMYLASE/DIHYDROOROTASE; CAD", "OMIM:114019": "CADHERIN 15; CDH15", "OMIM:114020": "CADHERIN 2; CDH2", "OMIM:114021": "CADHERIN 3; CDH3", "OMIM:114025": "CATENIN, ALPHA-2; CTNNA2", "OMIM:114050": "CALBINDIN 1; CALB1", "OMIM:114051": "CALBINDIN 2; CALB2", "OMIM:114070": "ANNEXIN A6; ANXA6", "OMIM:114078": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A", "OMIM:114080": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV; CAMK4", "OMIM:114085": "S100 CALCIUM-BINDING PROTEIN A10; S100A10", "OMIM:114090": "CALPASTATIN; CAST", "OMIM:114105": "PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA", "OMIM:114106": "PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, BETA ISOFORM; PPP3CB", "OMIM:114107": "PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC", "OMIM:114110": "S100 CALCIUM-BINDING PROTEIN A6; S100A6", "OMIM:114130": "CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA", "OMIM:114131": "CALCITONIN RECEPTOR; CALCR", "OMIM:114160": "CALCITONIN-RELATED POLYPEPTIDE, BETA; CALCB", "OMIM:114170": "CALPAIN, SMALL SUBUNIT 1; CAPNS1", "OMIM:114180": "CALMODULIN 1; CALM1", "OMIM:114182": "CALMODULIN 2; CALM2", "OMIM:114183": "CALMODULIN 3; CALM3", "OMIM:114184": "CALMODULIN-LIKE 3; CALML3", "OMIM:114190": "CALCITONIN RECEPTOR-LIKE RECEPTOR; CALCRL", "OMIM:114204": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1", "OMIM:114205": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C", "OMIM:114206": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D", "OMIM:114207": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-1 SUBUNIT; CACNB1", "OMIM:114208": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S", "OMIM:114209": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-1 SUBUNIT; CACNG1", "OMIM:114210": "S100 CALCIUM-BINDING PROTEIN A4; S100A4", "OMIM:114212": "CALCYPHOSINE; CAPS", "OMIM:114213": "CALDESMON 1; CALD1", "OMIM:114217": "CALNEXIN; CANX", "OMIM:114220": "CALPAIN 1; CAPN1", "OMIM:114230": "CALPAIN 2; CAPN2", "OMIM:114240": "CALPAIN 3; CAPN3", "OMIM:114250": "CALSEQUESTRIN 1; CASQ1", "OMIM:114251": "CALSEQUESTRIN 2; CASQ2", "OMIM:114280": "CAMPATH-1 ANTIGEN; CD52", "OMIM:114350": "NUCLEOPORIN, 214-KD; NUP214", "OMIM:114610": "CANNABINOID RECEPTOR 1; CNR1", "OMIM:114620": "CRANIOFACIOFRONTODIGITAL SYNDROME", "OMIM:114750": "CARBONIC ANHYDRASE III; CA3", "OMIM:114760": "CARBONIC ANHYDRASE IV; CA4", "OMIM:114761": "CARBONIC ANHYDRASE VA; CA5A", "OMIM:114770": "CARBONIC ANHYDRASE VII; CA7", "OMIM:114780": "CARBONIC ANHYDRASE VI; CA6", "OMIM:114800": "CARBONIC ANHYDRASE I; CA1", "OMIM:114815": "CARBONIC ANHYDRASE VIII; CA8", "OMIM:114830": "CARBONYL REDUCTASE 1; CBR1", "OMIM:114835": "CARBOXYLESTERASE 1; CES1", "OMIM:114840": "CARBOXYL-ESTER LIPASE; CEL", "OMIM:114850": "CARBOXYPEPTIDASE A1; CPA1", "OMIM:114851": "CARBOXYPEPTIDASE A3, MAST CELL; CPA3", "OMIM:114852": "CARBOXYPEPTIDASE B1, TISSUE; CPB1", "OMIM:114855": "CARBOXYPEPTIDASE E; CPE", "OMIM:114860": "CARBOXYPEPTIDASE M; CPM", "OMIM:114890": "CEA CELL ADHESION MOLECULE 5; CEACAM5", "OMIM:115435": "HYALURONAN AND PROTEOGLYCAN LINK PROTEIN 1; HAPLN1", "OMIM:115437": "MATRILIN 1; MATN1", "OMIM:115440": "CASEIN KINASE II, ALPHA-1; CSNK2A1", "OMIM:115441": "CASEIN KINASE II, BETA; CSNK2B", "OMIM:115442": "CASEIN KINASE II, ALPHA-2; CSNK2A2", "OMIM:115450": "CASEIN, ALPHA; CSN1", "OMIM:115460": "CASEIN, BETA; CSN2", "OMIM:115500": "CATALASE; CAT", "OMIM:115501": "TYROSINASE-RELATED PROTEIN 1; TYRP1", "OMIM:115645": "CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION", "OMIM:116790": "CATECHOL-O-METHYLTRANSFERASE; COMT", "OMIM:116805": "CATENIN, ALPHA-1; CTNNA1", "OMIM:116806": "CATENIN, BETA-1; CTNNB1", "OMIM:116810": "CATHEPSIN B; CTSB", "OMIM:116820": "CATHEPSIN H; CTSH", "OMIM:116830": "CATHEPSIN G; CTSG", "OMIM:116831": "GRANZYME H; GZMH", "OMIM:116840": "CATHEPSIN D; CTSD", "OMIM:116845": "CATHEPSIN S; CTSS", "OMIM:116850": "CATATRICHY", "OMIM:116880": "CATHEPSIN L; CTSL", "OMIM:116890": "CATHEPSIN E; CTSE", "OMIM:116896": "CUT-LIKE HOMEOBOX 1; CUX1", "OMIM:116897": "CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA", "OMIM:116898": "CCAAT/ENHANCER-BINDING PROTEIN, DELTA; CEBPD", "OMIM:116899": "CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A", "OMIM:116900": "CDC28 PROTEIN KINASE 1B; CKS1B", "OMIM:116901": "CDC2-ASSOCIATED PROTEIN CKS2; CKS2", "OMIM:116930": "CELL ADHESION MOLECULE, NEURAL, 1; NCAM1", "OMIM:116940": "CYCLIN-DEPENDENT KINASE 1; CDK1", "OMIM:116945": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 2; MCM2", "OMIM:116946": "CELL DIVISION CYCLE 27; CDC27", "OMIM:116947": "CELL DIVISION CYCLE 25A; CDC25A", "OMIM:116948": "CELL DIVISION CYCLE 34, UBIQUITIN-CONJUGATING ENZYME; CDC34", "OMIM:116949": "CELL DIVISION CYCLE 25B; CDC25B", "OMIM:116950": "TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T", "OMIM:116951": "CYCLIN-DEPENDENT KINASE 11A; CDK11A", "OMIM:116952": "CELL DIVISION CYCLE 42; CDC42", "OMIM:116953": "CYCLIN-DEPENDENT KINASE 2; CDK2", "OMIM:116955": "CCHC-TYPE ZINC FINGER NUCLEIC ACID-BINDING PROTEIN; CNBP", "OMIM:116957": "RB TRANSCRIPTIONAL COREPRESSOR-LIKE 1; RBL1", "OMIM:116960": "MORTALITY FACTOR 4, PSEUDOGENE; MORF4", "OMIM:117139": "CENTROMERIC PROTEIN A; CENPA", "OMIM:117140": "CENTROMERIC PROTEIN B; CENPB", "OMIM:117141": "CENTROMERIC PROTEIN C1; CENPC1", "OMIM:117143": "CENTROMERIC PROTEIN E; CENPE", "OMIM:117200": "REMOVED FROM DATABASE", "OMIM:117340": "CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 2; CDR2", "OMIM:117600": "CEREBRAL SARCOMA", "OMIM:117700": "CERULOPLASMIN; CP", "OMIM:117800": "APOCRINE GLAND SECRETION, VARIATION IN", "OMIM:118190": "HEAT-SHOCK 60-KD PROTEIN 1; HSPD1", "OMIM:118230": "CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE", "OMIM:118301": "CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM", "OMIM:118330": "CHEILITIS GLANDULARIS", "OMIM:118423": "CHIMERIN 1; CHN1", "OMIM:118425": "CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1", "OMIM:118430": "CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF", "OMIM:118440": "CHOLECYSTOKININ; CCK", "OMIM:118444": "CHOLECYSTOKININ A RECEPTOR; CCKAR", "OMIM:118445": "CHOLECYSTOKININ B RECEPTOR; CCKBR", "OMIM:118455": "CYTOCHROME P450, SUBFAMILY VIIA, POLYPEPTIDE 1; CYP7A1", "OMIM:118457": "CHOLESTEROL CRYSTALLIZATION INHIBITOR; CCI", "OMIM:118470": "CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP", "OMIM:118485": "CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1", "OMIM:118490": "CHOLINE ACETYLTRANSFERASE; CHAT", "OMIM:118491": "CHOLINE KINASE, ALPHA; CHKA", "OMIM:118493": "CHOLINERGIC RECEPTOR, MUSCARINIC, 2; CHRM2", "OMIM:118494": "CHOLINERGIC RECEPTOR, MUSCARINIC, 3; CHRM3", "OMIM:118495": "CHOLINERGIC RECEPTOR, MUSCARINIC, 4; CHRM4", "OMIM:118496": "CHOLINERGIC RECEPTOR, MUSCARINIC, 5; CHRM5", "OMIM:118502": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2", "OMIM:118503": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3", "OMIM:118504": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4", "OMIM:118505": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 5; CHRNA5", "OMIM:118507": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2", "OMIM:118508": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 3; CHRNB3", "OMIM:118509": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4", "OMIM:118510": "CHOLINERGIC RECEPTOR, MUSCARINIC, 1; CHRM1", "OMIM:118511": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7", "OMIM:118610": "CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION", "OMIM:118661": "VERSICAN; VCAN", "OMIM:118670": "CHONDRONECTIN", "OMIM:118820": "CHORIONIC SOMATOMAMMOTROPIN HORMONE 2; CSH2", "OMIM:118825": "CHM-LIKE; CHML", "OMIM:118840": "CHROMATE RESISTANCE; CHR", "OMIM:118850": "CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA", "OMIM:118860": "CHORIONIC GONADOTROPIN, BETA CHAIN; CGB", "OMIM:118865": "CHOROIDAL OSTEOMA, BILATERAL", "OMIM:118870": "CHROMOSOMAL PROTEIN, NONHISTONE 1; NHCP1", "OMIM:118880": "CHROMOSOMAL PROTEIN, NONHISTONE 2; NHCP2", "OMIM:118888": "CHYMOTRYPSIN-LIKE PROTEASE; CTRL", "OMIM:118890": "CHYMOTRYPSINOGEN B1; CTRB1", "OMIM:118900": "CIRRHOSIS, FAMILIAL", "OMIM:118910": "CHROMOGRANIN A; CHGA", "OMIM:118920": "CHROMOGRANIN B; CHGB", "OMIM:118930": "SECRETOGRANIN II; SCG2", "OMIM:118938": "CHYMASE 1; CMA1", "OMIM:118943": "CHYMOSIN PSEUDOGENE; CYMP", "OMIM:118945": "CILIARY NEUROTROPHIC FACTOR; CNTF", "OMIM:118946": "CILIARY NEUROTROPHIC FACTOR RECEPTOR; CNTFR", "OMIM:118950": "CITRATE SYNTHASE; CS", "OMIM:118955": "CLATHRIN, HEAVY POLYPEPTIDE; CLTC", "OMIM:118960": "CLATHRIN, LIGHT POLYPEPTIDE A; CLTA", "OMIM:118970": "CLATHRIN, LIGHT POLYPEPTIDE B; CLTB", "OMIM:118980": "CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL", "OMIM:118990": "ITPR-INTERACTING DOMAIN-CONTAINING PROTEIN 2; ITPRID2", "OMIM:119000": "CLEFT CHIN", "OMIM:120070": "COLLAGEN, TYPE IV, ALPHA-3; COL4A3", "OMIM:120080": "COLCHICINE RESISTANCE", "OMIM:120090": "COLLAGEN, TYPE IV, ALPHA-2; COL4A2", "OMIM:120105": "COLIPASE, PANCREATIC; CLPS", "OMIM:120110": "COLLAGEN, TYPE X, ALPHA-1; COL10A1", "OMIM:120120": "COLLAGEN, TYPE VII, ALPHA-1; COL7A1", "OMIM:120130": "COLLAGEN, TYPE IV, ALPHA-1; COL4A1", "OMIM:120131": "COLLAGEN, TYPE IV, ALPHA-4; COL4A4", "OMIM:120140": "COLLAGEN, TYPE II, ALPHA-1; COL2A1", "OMIM:120150": "COLLAGEN, TYPE I, ALPHA-1; COL1A1", "OMIM:120160": "COLLAGEN, TYPE I, ALPHA-2; COL1A2", "OMIM:120165": "COLLAGEN, TYPE XIX, ALPHA-1; COL19A1", "OMIM:120180": "COLLAGEN, TYPE III, ALPHA-1; COL3A1", "OMIM:120190": "COLLAGEN, TYPE V, ALPHA-2; COL5A2", "OMIM:120210": "COLLAGEN, TYPE IX, ALPHA-1; COL9A1", "OMIM:120215": "COLLAGEN, TYPE V, ALPHA-1; COL5A1", "OMIM:120216": "COLLAGEN, TYPE V, ALPHA-3; COL5A3", "OMIM:120220": "COLLAGEN, TYPE VI, ALPHA-1; COL6A1", "OMIM:120240": "COLLAGEN, TYPE VI, ALPHA-2; COL6A2", "OMIM:120250": "COLLAGEN, TYPE VI, ALPHA-3; COL6A3", "OMIM:120251": "COLLAGEN, TYPE VIII, ALPHA-1; COL8A1", "OMIM:120252": "COLLAGEN, TYPE VIII, ALPHA-2; COL8A2", "OMIM:120260": "COLLAGEN, TYPE IX, ALPHA-2; COL9A2", "OMIM:120270": "COLLAGEN, TYPE IX, ALPHA-3; COL9A3", "OMIM:120280": "COLLAGEN, TYPE XI, ALPHA-1; COL11A1", "OMIM:120290": "COLLAGEN, TYPE XI, ALPHA-2; COL11A2", "OMIM:120320": "COLLAGEN, TYPE XII, ALPHA-1; COL12A1", "OMIM:120324": "COLLAGEN, TYPE XIV, ALPHA-1; COL14A1", "OMIM:120325": "COLLAGEN, TYPE XV, ALPHA-1; COL15A1", "OMIM:120326": "COLLAGEN, TYPE XVI, ALPHA-1; COL16A1", "OMIM:120328": "COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1", "OMIM:120340": "COLLAGEN, TYPE I, ALPHA, RECEPTOR; COL1AR", "OMIM:120350": "COLLAGEN, TYPE XIII, ALPHA-1; COL13A1", "OMIM:120353": "MATRIX METALLOPROTEINASE 1; MMP1", "OMIM:120355": "MATRIX METALLOPROTEINASE 8; MMP8", "OMIM:120360": "MATRIX METALLOPROTEINASE 2; MMP2", "OMIM:120361": "MATRIX METALLOPROTEINASE 9; MMP9", "OMIM:120420": "COLONY-STIMULATING FACTOR 1; CSF1", "OMIM:120436": "DNA MISMATCH REPAIR PROTEIN MLH1; MLH1", "OMIM:120440": "COLONIC VARICES WITHOUT PORTAL HYPERTENSION", "OMIM:120470": "DCC NETRIN 1 RECEPTOR; DCC", "OMIM:120520": "MEMBRANE METALLOENDOPEPTIDASE; MME", "OMIM:120550": "COMPLEMENT COMPONENT 1, q SUBCOMPONENT, A CHAIN; C1QA", "OMIM:120560": "COMPLEMENT COMPONENT C1q, FIBROBLAST TYPE", "OMIM:120570": "COMPLEMENT COMPONENT 1, q SUBCOMPONENT, B CHAIN; C1QB", "OMIM:120575": "COMPLEMENT COMPONENT 1, q SUBCOMPONENT, C CHAIN; C1QC", "OMIM:120577": "COMPLEMENT COMPONENT 1, q SUBCOMPONENT, RECEPTOR 1; C1QR1", "OMIM:120580": "COMPLEMENT COMPONENT 1, s SUBCOMPONENT; C1S", "OMIM:120620": "COMPLEMENT COMPONENT RECEPTOR 1; CR1", "OMIM:120650": "COMPLEMENT COMPONENT RECEPTOR 2; CR2", "OMIM:120700": "COMPLEMENT COMPONENT 3; C3", "OMIM:120810": "COMPLEMENT COMPONENT 4A; C4A", "OMIM:120820": "COMPLEMENT COMPONENT 4B; C4B", "OMIM:120830": "COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA; C4BPA", "OMIM:120831": "COMPLEMENT COMPONENT 4-BINDING PROTEIN, BETA CHAIN; C4BPB", "OMIM:120900": "COMPLEMENT COMPONENT 5; C5", "OMIM:120920": "CD46 ANTIGEN; CD46", "OMIM:120930": "COMPLEMENT COMPONENT 8, GAMMA SUBUNIT; C8G", "OMIM:120940": "COMPLEMENT COMPONENT 9; C9", "OMIM:120950": "COMPLEMENT COMPONENT 8, ALPHA SUBUNIT; C8A", "OMIM:120960": "COMPLEMENT COMPONENT 8, BETA SUBUNIT; C8B", "OMIM:120980": "INTEGRIN, ALPHA-M; ITGAM", "OMIM:121000": "REMOVED FROM DATABASE", "OMIM:121009": "CELLULAR COMMUNICATION NETWORK FACTOR 2; CCN2", "OMIM:121010": "PRO-PLATELET BASIC PROTEIN; PPBP", "OMIM:121011": "GAP JUNCTION PROTEIN, BETA-2; GJB2", "OMIM:121012": "GAP JUNCTION PROTEIN, ALPHA-4; GJA4", "OMIM:121013": "GAP JUNCTION PROTEIN, ALPHA-5; GJA5", "OMIM:121014": "GAP JUNCTION PROTEIN, ALPHA-1; GJA1", "OMIM:121015": "GAP JUNCTION PROTEIN, ALPHA-3; GJA3", "OMIM:121360": "CORE-BINDING FACTOR, BETA SUBUNIT; CBFB", "OMIM:121450": "CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS", "OMIM:122440": "CORNEODERMATOOSSEOUS SYNDROME", "OMIM:122450": "CORNEAL HYPESTHESIA, FAMILIAL", "OMIM:122500": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 6; SERPINA6", "OMIM:122550": "CORTICOSTERONE SIDE-CHAIN ISOMERASE; CSCI", "OMIM:122559": "CORTICOTROPIN-RELEASING HORMONE-BINDING PROTEIN; CRHBP", "OMIM:122560": "CORTICOTROPIN-RELEASING HORMONE; CRH", "OMIM:122561": "CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1", "OMIM:122720": "CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6", "OMIM:122900": "CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA", "OMIM:123050": "CRANIORHINY", "OMIM:123101": "MSH HOMEOBOX 2; MSX2", "OMIM:123260": "C-REACTIVE PROTEIN; CRP", "OMIM:123270": "CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE", "OMIM:123280": "CREATINE KINASE, BRAIN TYPE; CKB", "OMIM:123290": "CREATINE KINASE, MITOCHONDRIAL 1B; CKMT1B", "OMIM:123295": "CREATINE KINASE, MITOCHONDRIAL 2; CKMT2", "OMIM:123310": "CREATINE KINASE, MUSCLE TYPE; CKM", "OMIM:123560": "CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME", "OMIM:123580": "CRYSTALLIN, ALPHA-A; CRYAA", "OMIM:123590": "CRYSTALLIN, ALPHA-B; CRYAB", "OMIM:123610": "CRYSTALLIN, BETA-A1; CRYBA1", "OMIM:123620": "CRYSTALLIN, BETA-B2; CRYBB2", "OMIM:123630": "CRYSTALLIN, BETA-B3; CRYBB3", "OMIM:123631": "CRYSTALLIN, BETA-A4; CRYBA4", "OMIM:123660": "CRYSTALLIN, GAMMA-A; CRYGA", "OMIM:123670": "CRYSTALLIN, GAMMA-B; CRYGB", "OMIM:123680": "CRYSTALLIN, GAMMA-C; CRYGC", "OMIM:123690": "CRYSTALLIN, GAMMA-D; CRYGD", "OMIM:123691": "CRYSTALLIN, ZETA; CRYZ", "OMIM:123695": "PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, ALPHA ISOFORM; PCYT1A", "OMIM:123730": "CRYSTALLIN, GAMMA-S; CRYGS", "OMIM:123740": "CRYSTALLIN, MU; CRYM", "OMIM:123803": "ACTIVATING TRANSCRIPTION FACTOR 1; ATF1", "OMIM:123805": "PHOSPHODIESTERASE 3A; PDE3A", "OMIM:123810": "cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1", "OMIM:123811": "ACTIVATING TRANSCRIPTION FACTOR 2; ATF2", "OMIM:123812": "cAMP RESPONSE ELEMENT MODULATOR; CREM", "OMIM:123825": "CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1", "OMIM:123828": "CYCLIN-DEPENDENT KINASE 3; CDK3", "OMIM:123829": "CYCLIN-DEPENDENT KINASE 4; CDK4", "OMIM:123830": "CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP", "OMIM:123831": "CYCLIN-DEPENDENT KINASE 5; CDK5", "OMIM:123832": "CYCLIN-DEPENDENT KINASE INHIBITOR 3; CDKN3", "OMIM:123833": "CYCLIN D2; CCND2", "OMIM:123834": "CYCLIN D3; CCND3", "OMIM:123835": "CYCLIN A2; CCNA2", "OMIM:123836": "CYCLIN B1; CCNB1", "OMIM:123837": "CYCLIN E1; CCNE1", "OMIM:123838": "CYCLIN C; CCNC", "OMIM:123840": "PEPTIDYL-PROLYL ISOMERASE A; PPIA", "OMIM:123841": "PEPTIDYL-PROLYL ISOMERASE B; PPIB", "OMIM:123842": "PEPTIDYL-PROLYL ISOMERASE C; PPIC", "OMIM:123853": "CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME", "OMIM:123855": "CYSTATIN 1; CST1", "OMIM:123856": "CYSTATIN 2; CST2", "OMIM:123857": "CYSTATIN 4; CST4", "OMIM:123858": "CYSTATIN 5; CST5", "OMIM:123859": "CYSTEINYL-tRNA SYNTHETASE 1; CARS1", "OMIM:123860": "CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 1; CTPS1", "OMIM:123864": "CYTOCHROME c OXIDASE, SUBUNIT 4I1; COX4I1", "OMIM:123866": "CYTOCHROME c OXIDASE, SUBUNIT 5B; COX5B", "OMIM:123870": "CYTOCHROME c OXIDASE, SUBUNIT 8A; COX8A", "OMIM:123875": "CYSTEINE-RICH INTESTINAL PROTEIN 1; CRIP1", "OMIM:123876": "CYSTEINE- AND GLYCINE-RICH PROTEIN 1; CSRP1", "OMIM:123885": "S100 CALCIUM-BINDING PROTEIN A8; S100A8", "OMIM:123886": "S100 CALCIUM-BINDING PROTEIN A9; S100A9", "OMIM:123889": "INTERLEUKIN 10 RECEPTOR, BETA; IL10RB", "OMIM:123890": "CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4", "OMIM:123900": "EZRIN; EZR", "OMIM:123910": "GRANZYME B; GZMB", "OMIM:123920": "CYTIDINE DEAMINASE; CDA", "OMIM:123930": "CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6; CYP2B6", "OMIM:123940": "KERATIN 4, TYPE II; KRT4", "OMIM:123970": "CYTOCHROME C, SOMATIC; CYCS", "OMIM:123980": "CYTOCHROME C1; CYC1", "OMIM:123995": "CYTOCHROME c OXIDASE, SUBUNIT 7A1; COX7A1", "OMIM:123996": "CYTOCHROME c OXIDASE, SUBUNIT 7A2; COX7A2", "OMIM:123997": "CYTOCHROME c OXIDASE, SUBUNIT 7A2, PSEUDOGENE 2; COX7A2P2", "OMIM:124010": "CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4", "OMIM:124015": "CYTOCHROME P450 OXIDOREDUCTASE; POR", "OMIM:124020": "CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19", "OMIM:124030": "CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6", "OMIM:124040": "CYTOCHROME P450, SUBFAMILY IIE; CYP2E1", "OMIM:124050": "D-AMINO ACID OXIDASE; DAO", "OMIM:124060": "CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2", "OMIM:124070": "CYTOCHROME P450, SUBFAMILY IIF, POLYPEPTIDE 1; CYP2F1", "OMIM:124075": "CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1", "OMIM:124080": "CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2", "OMIM:124089": "CYTOCHROME c OXIDASE, SUBUNIT 6B1; COX6B1", "OMIM:124090": "CYTOCHROME c OXIDASE, SUBUNIT 6C; COX6C", "OMIM:124092": "INTERLEUKIN 10; IL10", "OMIM:124095": "C-TERMINAL SRC KINASE; CSK", "OMIM:124097": "D-BOX-BINDING PAR bZIP TRANSCRIPTION FACTOR; DBP", "OMIM:124450": "D-ASPARTATE OXIDASE; DDO", "OMIM:124490": "DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY", "OMIM:124580": "REMOVED FROM DATABASE", "OMIM:125220": "DEFENSIN, ALPHA, 1; DEFA1", "OMIM:125230": "DEAFNESS-CRANIOFACIAL SYNDROME", "OMIM:125240": "CD55 ANTIGEN; CD55", "OMIM:125255": "DECORIN; DCN", "OMIM:125260": "DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF", "OMIM:125263": "SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER 1; SULT2A1", "OMIM:125264": "DEK ONCOGENE; DEK", "OMIM:125265": "RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5", "OMIM:125270": "DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD", "OMIM:125280": "DENS EVAGINATUS", "OMIM:125290": "DELTA-AMINOLEVULINATE SYNTHASE 1; ALAS1", "OMIM:125300": "DENS IN DENTE AND PALATAL INVAGINATIONS", "OMIM:125305": "ERYTHROCYTE MEMBRANE PROTEIN BAND 4.9; EPB49", "OMIM:125450": "DEOXYCYTIDINE KINASE; DCK", "OMIM:125485": "DENTIN SIALOPHOSPHOPROTEIN; DSPP", "OMIM:125505": "DEOXYRIBONUCLEASE I; DNASE1", "OMIM:125510": "REMOVED FROM DATABASE", "OMIM:125550": "DERMAL RIDGES-OFF-THE-END; ROES", "OMIM:125570": "DERMATOGLYPHICS--ARCH ON ANY DIGIT", "OMIM:125580": "DERMATOGLYPHICS--FINGER RIDGE COUNT", "OMIM:125590": "DERMATOGLYPHICS--FINGERPRINT PATTERN", "OMIM:125597": "DERMATOPONTIN; DPT", "OMIM:125635": "DERMOGRAPHISM, FAMILIAL", "OMIM:125643": "DESMOCOLLIN 1; DSC1", "OMIM:125645": "DESMOCOLLIN 2; DSC2", "OMIM:125647": "DESMOPLAKIN; DSP", "OMIM:125660": "DESMIN; DES", "OMIM:125670": "DESMOGLEIN 1; DSG1", "OMIM:125671": "DESMOGLEIN 2; DSG2", "OMIM:125855": "DIACYLGLYCEROL KINASE, ALPHA, 80-KD; DGKA", "OMIM:125860": "NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1", "OMIM:125880": "DIAPHORASE 3; DIA3", "OMIM:125890": "DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY", "OMIM:125950": "DIAZEPAM BINDING INHIBITOR; DBI", "OMIM:126060": "DIHYDROFOLATE REDUCTASE; DHFR", "OMIM:126063": "DIHYDROLIPOAMIDE S-SUCCINYLTRANSFERASE; DLST", "OMIM:126064": "DIHYDROOROTATE DEHYDROGENASE; DHODH", "OMIM:126065": "CYTOCHROME P450, FAMILY 24, SUBFAMILY A, POLYPEPTIDE 1; CYP24A1", "OMIM:126090": "PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 1; PCBD1", "OMIM:126100": "DIMPLES, FACIAL", "OMIM:126110": "ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ARNT", "OMIM:126141": "DIPEPTIDYL PEPTIDASE VI; DPP6", "OMIM:126150": "HEPARIN-BINDING EGF-LIKE GROWTH FACTOR; HBEGF", "OMIM:126190": "DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS", "OMIM:126255": "DISTAL-LESS HOMEOBOX 2; DLX2", "OMIM:126330": "DNA, CYTOPLASMIC-MEMBRANE; DNCM", "OMIM:126335": "GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE, ALPHA; GADD45A", "OMIM:126337": "DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3", "OMIM:126340": "ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC2", "OMIM:126350": "DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2", "OMIM:126370": "DNA, SATELLITE, III; HS3; D1Z1", "OMIM:126375": "DNA METHYLTRANSFERASE 1; DNMT1", "OMIM:126380": "ERCC EXCISION REPAIR 1, ENDONUCLEASE NONCATALYTIC SUBUNIT; ERCC1", "OMIM:126390": "DNA, LOW-REPETITIVE SEQUENCES OF", "OMIM:126391": "LIGASE I, DNA, ATP-DEPENDENT; LIG1", "OMIM:126410": "DNA, SATELLITE, ALPHA TYPE", "OMIM:126420": "TOPOISOMERASE, DNA, I; TOP1", "OMIM:126430": "TOPOISOMERASE, DNA, II, ALPHA; TOP2A", "OMIM:126431": "TOPOISOMERASE, DNA, II, BETA; TOP2B", "OMIM:126440": "REMOVED FROM DATABASE", "OMIM:126449": "DOPAMINE RECEPTOR D1; DRD1", "OMIM:126450": "DOPAMINE RECEPTOR D2; DRD2", "OMIM:126451": "DOPAMINE RECEPTOR D3; DRD3", "OMIM:126452": "DOPAMINE RECEPTOR D4; DRD4", "OMIM:126453": "DOPAMINE RECEPTOR D5; DRD5", "OMIM:126455": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), MEMBER 3; SLC6A3", "OMIM:126650": "SOLUTE CARRIER FAMILY 26, MEMBER 3; SLC26A3", "OMIM:126660": "DREBRIN E; DBN1", "OMIM:127350": "DYSCHONDROSTEOSIS AND NEPHRITIS", "OMIM:127820": "DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS", "OMIM:128239": "DYSTROGLYCAN 1; DAG1", "OMIM:128240": "UTROPHIN; UTRN", "OMIM:128260": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE E; SNRPE", "OMIM:128400": "EAR FLARE", "OMIM:128900": "EARLOBE ATTACHMENT, ATTACHED VS UNATTACHED", "OMIM:128950": "EARLOBE CREASE", "OMIM:128990": "EARLY GROWTH RESPONSE 1; EGR1", "OMIM:128992": "EARLY GROWTH RESPONSE 4; EGR4", "OMIM:129010": "EARLY GROWTH RESPONSE 2; EGR2", "OMIM:129100": "EARS, ABILITY TO MOVE", "OMIM:129190": "ECTO-5-PRIME NUCLEOTIDASE; NT5E", "OMIM:129510": "ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE", "OMIM:129540": "ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET", "OMIM:129810": "ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE", "OMIM:129830": "ECTRODACTYLY-CLEFT PALATE SYNDROME", "OMIM:129905": "EGASYN", "OMIM:130090": "EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED", "OMIM:130120": "CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 1; CELA1", "OMIM:130130": "ELASTASE, NEUTROPHIL-EXPRESSED; ELANE", "OMIM:130135": "SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 1; SERPINB1", "OMIM:130160": "ELASTIN; ELN", "OMIM:130180": "ELECTROENCEPHALOGRAM, LOW-VOLTAGE", "OMIM:130190": "ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT LOCUS; EEGBQTL", "OMIM:130400": "ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES", "OMIM:130410": "ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE; ETFB", "OMIM:130500": "ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41", "OMIM:130590": "EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-1; EEF1A1", "OMIM:130592": "EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, DELTA; EEF1D", "OMIM:130593": "EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, GAMMA; EEF1G", "OMIM:130610": "EUKARYOTIC TRANSLATION ELONGATION FACTOR 2; EEF2", "OMIM:130620": "RIBOSOMAL PROTEIN S14; RPS14", "OMIM:130660": "ELASTIN MICROFIBRIL INTERFACER 1; EMILIN1", "OMIM:130950": "ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD", "OMIM:131150": "ENDOGENOUS RETROVIRAL SEQUENCE 1; ERV1", "OMIM:131170": "ENDOGENOUS RETROVIRAL SEQUENCE 3; ERV3", "OMIM:131180": "ENDOGENOUS RETROVIRAL POL-LIKE SEQUENCE-2; ERPL2", "OMIM:131190": "ENDOGENOUS RETROVIRAL POL-LIKE SEQUENCE-1; ERPL1", "OMIM:131195": "ENDOGLIN; ENG", "OMIM:131210": "SELECTIN E; SELE", "OMIM:131220": "FIBROBLAST GROWTH FACTOR 1; FGF1", "OMIM:131222": "THYMIDINE PHOSPHORYLASE; TYMP", "OMIM:131230": "ANNEXIN A5; ANXA5", "OMIM:131235": "KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 1; KDELR1", "OMIM:131240": "ENDOTHELIN 1; EDN1", "OMIM:131241": "ENDOTHELIN 2; EDN2", "OMIM:131242": "ENDOTHELIN 3; EDN3", "OMIM:131243": "ENDOTHELIN RECEPTOR, TYPE A; EDNRA", "OMIM:131244": "ENDOTHELIN RECEPTOR, TYPE B; EDNRB", "OMIM:131290": "ENGRAILED 1; EN1", "OMIM:131310": "ENGRAILED 2; EN2", "OMIM:131320": "GATA-BINDING PROTEIN 3; GATA3", "OMIM:131330": "PROENKEPHALIN; PENK", "OMIM:131340": "PRODYNORPHIN; PDYN", "OMIM:131360": "ENOLASE 2; ENO2", "OMIM:131370": "ENOLASE 3; ENO3", "OMIM:131375": "ENOLASE 4; ENO4", "OMIM:131390": "NIDOGEN 1; NID1", "OMIM:131398": "RIBONUCLEASE A FAMILY, MEMBER 3; RNASE3", "OMIM:131399": "EOSINOPHIL PEROXIDASE; EPX", "OMIM:131410": "RIBONUCLEASE A FAMILY, MEMBER 2; RNASE2", "OMIM:131450": "EPIBLEPHARON OF LOWER LID", "OMIM:131460": "EPIBLEPHARON OF UPPER LID", "OMIM:131500": "EPICANTHUS", "OMIM:131530": "EPIDERMAL GROWTH FACTOR; EGF", "OMIM:131550": "EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR", "OMIM:131560": "FLOTILLIN 2; FLOT2", "OMIM:131600": "EPIDERMOID CYSTS", "OMIM:132350": "SYNTAXIN 2; STX2", "OMIM:132810": "EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1", "OMIM:132811": "EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2", "OMIM:132850": "EPSTEIN-BARR VIRUS INSERTION SITE 1; EBVS1", "OMIM:132860": "REMOVED FROM DATABASE", "OMIM:132880": "NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 6; NR2F6", "OMIM:132890": "NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 1; NR2F1", "OMIM:133090": "STOMATIN; STOM", "OMIM:133170": "ERYTHROPOIETIN; EPO", "OMIM:133171": "ERYTHROPOIETIN RECEPTOR; EPOR", "OMIM:133220": "ESTERASE A4; ESA4", "OMIM:133230": "ESTERASE A-5; ESA5", "OMIM:133260": "ESTERASE B; ESB", "OMIM:133270": "ESTERASE C; ESC", "OMIM:133280": "ESTERASE D; ESD", "OMIM:133290": "ESTERASE B3; ESB3", "OMIM:133300": "ESTERASE ES-2, REGULATOR FOR", "OMIM:133430": "ESTROGEN RECEPTOR 1; ESR1", "OMIM:133435": "RUNT-RELATED TRANSCRIPTION FACTOR 1, TRANSLOCATED TO, 1; RUNX1T1", "OMIM:133440": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E", "OMIM:133450": "EWS RNA-BINDING PROTEIN 1; EWSR1", "OMIM:133510": "ERCC EXCISION REPAIR 3, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC3", "OMIM:133520": "ERCC EXCISION REPAIR 4, ENDONUCLEASE CATALYTIC SUBUNIT; ERCC4", "OMIM:133530": "ERCC EXCISION REPAIR 5, ENDONUCLEASE; ERCC5", "OMIM:133550": "SOLUTE CARRIER FAMILY 1 (NEURONAL/EPITHELIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 1; SLC1A1", "OMIM:133710": "REMOVED FROM DATABASE", "OMIM:133730": "REMOVED FROM DATABASE", "OMIM:133740": "REMOVED FROM DATABASE", "OMIM:133750": "EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY", "OMIM:133800": "EYEBROW, WHORL IN", "OMIM:134000": "FACIAL HYPERTRICHOSIS", "OMIM:134350": "COMPLEMENT FACTOR D; CFD", "OMIM:134370": "COMPLEMENT FACTOR H; CFH", "OMIM:134371": "COMPLEMENT FACTOR H-RELATED 1; CFHR1", "OMIM:134390": "COAGULATION FACTOR III; F3", "OMIM:134520": "FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF", "OMIM:134570": "FACTOR XIII, A1 SUBUNIT; F13A1", "OMIM:134580": "FACTOR XIII, B SUBUNIT; F13B", "OMIM:134629": "FARNESYL DIPHOSPHATE SYNTHASE; FDPS", "OMIM:134635": "FARNESYLTRANSFERASE, CAAX BOX, ALPHA; FNTA", "OMIM:134636": "FARNESYLTRANSFERASE, CAAX BOX, BETA; FNTB", "OMIM:134637": "FAS CELL SURFACE DEATH RECEPTOR; FAS", "OMIM:134638": "FAS LIGAND; FASLG", "OMIM:134640": "FATTY ACID-BINDING PROTEIN 2; FABP2", "OMIM:134650": "FATTY ACID-BINDING PROTEIN 1; FABP1", "OMIM:134651": "FATTY ACID-BINDING PROTEIN 3; FABP3", "OMIM:134660": "GLUTATHIONE S-TRANSFERASE, PI; GSTP1", "OMIM:134690": "FAU UBIQUITIN-LIKE AND RIBOSOMAL PROTEIN S30 FUSION; FAU", "OMIM:134720": "FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF", "OMIM:134770": "FERRITIN HEAVY CHAIN 1; FTH1", "OMIM:134790": "FERRITIN LIGHT CHAIN; FTL", "OMIM:134795": "FIBRILLARIN; FBL", "OMIM:134797": "FIBRILLIN 1; FBN1", "OMIM:134820": "FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA", "OMIM:134830": "FIBRINOGEN, B BETA POLYPEPTIDE; FGB", "OMIM:134850": "FIBRINOGEN, G GAMMA POLYPEPTIDE; FGG", "OMIM:134920": "FIBROBLAST GROWTH FACTOR 2; FGF2", "OMIM:134921": "FIBROBLAST GROWTH FACTOR 6; FGF6", "OMIM:134934": "FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3", "OMIM:134935": "FIBROBLAST GROWTH FACTOR RECEPTOR 4; FGFR4", "OMIM:135600": "FIBRONECTIN 1; FN1", "OMIM:135610": "FIBRONECTIN-LIKE 2; FNL2", "OMIM:135620": "INTEGRIN, ALPHA-5; ITGA5", "OMIM:135630": "INTEGRIN, BETA-1; ITGB1", "OMIM:135800": "FIBULA, RECURRENT DISLOCATION OF HEAD OF", "OMIM:135820": "FIBULIN 1; FBLN1", "OMIM:135821": "FIBULIN 2; FBLN2", "OMIM:135940": "FILAGGRIN; FLG", "OMIM:136100": "FINGERS, RELATIVE LENGTH OF", "OMIM:136130": "FLAVIN-CONTAINING DIMETHYLANILINE MONOOXYGENASE 1; FMO1", "OMIM:136131": "FLAVIN-CONTAINING DIMETHYLANILINE MONOOXYGENASE 4; FMO4", "OMIM:136132": "FLAVIN-CONTAINING DIMETHYLANILINE MONOOXYGENASE 3; FMO3", "OMIM:136150": "FLOOD FACTOR DEFICIENCY", "OMIM:136200": "FLUSHING OF EARS AND SOMNOLENCE", "OMIM:136350": "FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1", "OMIM:136351": "FMS-RELATED TYROSINE KINASE 3; FLT3", "OMIM:136352": "FMS-LIKE TYROSINE KINASE 4; FLT4", "OMIM:136400": "FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA", "OMIM:136425": "FOLATE RECEPTOR, BETA; FOLR2", "OMIM:136430": "FOLATE RECEPTOR, ALPHA; FOLR1", "OMIM:136435": "FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR", "OMIM:136440": "3-KETODIHYDROSPHINGOSINE REDUCTASE; KDSR", "OMIM:136470": "FOLLISTATIN; FST", "OMIM:136510": "FOLYLPOLYGLUTAMATE SYNTHETASE; FPGS", "OMIM:136515": "FOS-LIKE 1, AP-1 TRANSCRIPTION FACTOR SUBUNIT; FOSL1", "OMIM:136530": "FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB", "OMIM:136533": "FORKHEAD BOX O1A; FOXO1A", "OMIM:136535": "FORMIN 1; FMN1", "OMIM:136537": "FORMYL PEPTIDE RECEPTOR 1; FPR1", "OMIM:136538": "FORMYL PEPTIDE RECEPTOR 2; FPR2", "OMIM:136539": "FORMYL PEPTIDE RECEPTOR 3; FPR3", "OMIM:136540": "FRAGILE SITE 10q23", "OMIM:136590": "FRAGILE SITE 20p11", "OMIM:136620": "FRAGILE SITE 10q25; FRA10B", "OMIM:136640": "FRAGILE SITE 9q32", "OMIM:136660": "FRAGILE SITE 17p12", "OMIM:136670": "REMOVED FROM DATABASE", "OMIM:136820": "FUCOSIDASE, ALPHA-L, 2; FUCA2", "OMIM:136830": "FUCOSIDASE REGULATOR", "OMIM:136835": "FUCOSYLTRANSFERASE 5; FUT5", "OMIM:136836": "FUCOSYLTRANSFERASE 6; FUT6", "OMIM:136840": "FULL-LENGTH RETROVIRAL SEQUENCE 1; FRV1", "OMIM:136850": "FUMARATE HYDRATASE; FH", "OMIM:136870": "FULL-LENGTH RETROVIRAL SEQUENCE 2; FRV2", "OMIM:136890": "FULL-LENGTH RETROVIRAL SEQUENCE 3; FRV3", "OMIM:136950": "FURIN, PAIRED BASIC AMINO ACID CLEAVING ENZYME; FURIN", "OMIM:137000": "FUTCHER LINE", "OMIM:137010": "F9 EMBRYONIC ANTIGEN; FEA", "OMIM:137020": "GDP-L-FUCOSE SYNTHASE; GFUS", "OMIM:137025": "FYN PROTOONCOGENE, SRC FAMILY TYROSINE KINASE; FYN", "OMIM:137026": "G PROTEIN-COUPLED RECEPTOR KINASE 4; GRK4", "OMIM:137028": "GALACTOKINASE 2; GALK2", "OMIM:137030": "GALACTOSE MUTAROTASE; GALM", "OMIM:137035": "GALANIN; GAL", "OMIM:137060": "BETA-1,4-GALACTOSYLTRANSFERASE 1; B4GALT1", "OMIM:137070": "FUS RNA-BINDING PROTEIN; FUS", "OMIM:137130": "GASTRIC SNEEZING", "OMIM:137140": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2", "OMIM:137141": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4", "OMIM:137142": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-5; GABRA5", "OMIM:137143": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-6; GABRA6", "OMIM:137150": "4-AMINOBUTYRATE AMINOTRANSFERASE; ABAT", "OMIM:137160": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1", "OMIM:137161": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, RHO-1; GABRR1", "OMIM:137162": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, RHO-2; GABRR2", "OMIM:137163": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD", "OMIM:137164": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2", "OMIM:137165": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 1; SLC6A1", "OMIM:137166": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-1; GABRG1", "OMIM:137167": "GAMMA-GLUTAMYL CARBOXYLASE; GGCX", "OMIM:137168": "GAMMA-GLUTAMYLTRANSFERASE 5; GGT5", "OMIM:137170": "GAMMA-GLUTAMYL CYCLOTRANSFERASE; GGCT", "OMIM:137181": "GAMMA-GLUTAMYLTRANSFERASE 2; GGT2", "OMIM:137190": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-1; GABRB1", "OMIM:137192": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3", "OMIM:137207": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 32; LRRC32", "OMIM:137210": "GASTRIC VOLVULUS, INTRATHORACIC", "OMIM:137216": "ATPase, H+,K+ EXCHANGING, ALPHA SUBUNIT; ATP4A", "OMIM:137217": "ATPase, H+,K+ EXCHANGING, BETA POLYPEPTIDE; ATP4B", "OMIM:137220": "GASTRIC JUICE PEPTIDES", "OMIM:137240": "GASTRIC INHIBITORY POLYPEPTIDE; GIP", "OMIM:137241": "GASTRIC INHIBITORY POLYPEPTIDE RECEPTOR; GIPR", "OMIM:137250": "GASTRIN; GAST", "OMIM:137260": "GASTRIN-RELEASING PEPTIDE; GRP", "OMIM:137290": "TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; TACSTD2", "OMIM:137295": "GATA-BINDING PROTEIN 2; GATA2", "OMIM:137350": "GELSOLIN; GSN", "OMIM:137370": "GENU VALGUM, ST. HELENA FAMILIAL", "OMIM:137400": "GEOGRAPHIC AND FISSURED TONGUE", "OMIM:137570": "SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 1; SLC20A1", "OMIM:137700": "GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE", "OMIM:137780": "GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP", "OMIM:137960": "MITOCHONDRIAL INNER MEMBRANE PROTEIN MPV17; MPV17", "OMIM:138030": "GLUCAGON; GCG", "OMIM:138032": "GLUCAGON-LIKE PEPTIDE 1 RECEPTOR; GLP1R", "OMIM:138033": "GLUCAGON RECEPTOR; GCGR", "OMIM:138040": "NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 1; NR3C1", "OMIM:138060": "GLUCOCORTICOID RECEPTOR-LIKE 1; GRLL1", "OMIM:138079": "GLUCOKINASE; GCK", "OMIM:138090": "HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD", "OMIM:138110": "GLUCOSE-6-PHOSPHATE DEHYDROGENASE-LIKE; G6PDL", "OMIM:138120": "HEAT-SHOCK 70-KD PROTEIN 5; HSPA5", "OMIM:138130": "GLUTAMATE DEHYDROGENASE 1; GLUD1", "OMIM:138140": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1", "OMIM:138150": "GLUTAMATE OXALOACETATE TRANSAMINASE, MITOCHONDRIAL; GOT2", "OMIM:138160": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2; SLC2A2", "OMIM:138170": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 3; SLC2A3", "OMIM:138180": "GLUTAMATE OXALOACETATE TRANSAMINASE, SOLUBLE; GOT1", "OMIM:138190": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 4; SLC2A4", "OMIM:138200": "GLUTAMATE PYRUVATE TRANSAMINASE; GPT", "OMIM:138210": "GLUTAMATE PYRUVATE TRANSAMINASE 2; GPT2", "OMIM:138230": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE/FRUCTOSE TRANSPORTER), MEMBER 5; SLC2A5", "OMIM:138243": "GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 3; GRIK3", "OMIM:138244": "GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 2; GRIK2", "OMIM:138245": "GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 1; GRIK1", "OMIM:138246": "GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 4; GRIA4", "OMIM:138247": "GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2", "OMIM:138248": "GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1", "OMIM:138249": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1", "OMIM:138250": "ALDEHYDE DEHYDROGENASE 18 FAMILY, MEMBER A1; ALDH18A1", "OMIM:138251": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, ASSOCIATED PROTEIN; GRINA", "OMIM:138252": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B; GRIN2B", "OMIM:138253": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A; GRIN2A", "OMIM:138254": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2C; GRIN2C", "OMIM:138275": "GLUTAMATE DECARBOXYLASE 2; GAD2", "OMIM:138277": "GLUTAMIC ACID DECARBOXYLASE, BRAIN, MEMBRANE FORM", "OMIM:138280": "GLUTAMINASE; GLS", "OMIM:138290": "GLUTAMATE-AMMONIA LIGASE; GLUL", "OMIM:138292": "GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 1; GFPT1", "OMIM:138295": "GLUTAMYL-PROLYL-tRNA SYNTHETASE 1; EPRS1", "OMIM:138297": "GLUTAMYL AMINOPEPTIDASE; ENPEP", "OMIM:138300": "GLUTATHIONE REDUCTASE; GSR", "OMIM:138319": "GLUTATHIONE PEROXIDASE 2; GPX2", "OMIM:138320": "GLUTATHIONE PEROXIDASE 1; GPX1", "OMIM:138321": "GLUTATHIONE PEROXIDASE 3; GPX3", "OMIM:138322": "GLUTATHIONE PEROXIDASE 4; GPX4", "OMIM:138330": "GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 1; MGST1", "OMIM:138333": "GLUTATHIONE S-TRANSFERASE, MU-4; GSTM4", "OMIM:138340": "GLUTATHIONE TRANSFERASE ACTIVITY TOWARD TRANS-STILBENE OXIDE", "OMIM:138350": "GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1", "OMIM:138359": "GLUTATHIONE S-TRANSFERASE, ALPHA-1; GSTA1", "OMIM:138360": "GLUTATHIONE S-TRANSFERASE, ALPHA-2; GSTA2", "OMIM:138380": "GLUTATHIONE S-TRANSFERASE, MU-2; GSTM2", "OMIM:138385": "GLUTATHIONE S-TRANSFERASE, MU-5; GSTM5", "OMIM:138390": "GLUTATHIONE S-TRANSFERASE, MU-3; GSTM3", "OMIM:138391": "REMOVED FROM DATABASE", "OMIM:138400": "GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH", "OMIM:138420": "GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1; GPD1", "OMIM:138430": "GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; GPD2", "OMIM:138440": "PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE/PHOSPHORIBOSYLGLYCINAMIDE SYNTHETASE/PHOSPHORIBOSYLAMINOIMIDAZOLE SYNTHETASE; GART", "OMIM:138450": "SERINE HYDROXYMETHYLTRANSFERASE, MITOCHONDRIAL; SHMT2", "OMIM:138470": "COMPLEMENT FACTOR B; CFB", "OMIM:138480": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, FOLATE), MEMBER 32; SLC25A32", "OMIM:138491": "GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1", "OMIM:138492": "GLYCINE RECEPTOR, BETA SUBUNIT; GLRB", "OMIM:138550": "GLYCOGEN PHOSPHORYLASE, BRAIN TYPE; PYGB", "OMIM:138570": "GLYCOGEN SYNTHASE 1; GYS1", "OMIM:138571": "GLYCOGEN SYNTHASE 2; GYS2", "OMIM:138590": "GLYCOPHORIN E; GYPE", "OMIM:138600": "OROSOMUCOID 1; ORM1", "OMIM:138610": "OROSOMUCOID 2; ORM2", "OMIM:138670": "ALPHA-1-B-GLYCOPROTEIN; A1BG", "OMIM:138680": "ALPHA-2-HS-GLYCOPROTEIN; AHSG", "OMIM:138700": "APOLIPOPROTEIN H; APOH", "OMIM:138710": "GLYCOPROTEIN, RENAL", "OMIM:138720": "GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE; GP1BB", "OMIM:138750": "GLYOXALASE I; GLO1", "OMIM:138760": "HYDROXYACYL GLUTATHIONE HYDROLASE; HAGH", "OMIM:138770": "GMS SYNDROME", "OMIM:138790": "GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES", "OMIM:138850": "GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR", "OMIM:138890": "GOOSECOID HOMEOBOX; GSC", "OMIM:138900": "URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1", "OMIM:138920": "GRANDDAD SYNDROME", "OMIM:138945": "GRANULIN PRECURSOR; GRN", "OMIM:138960": "COLONY-STIMULATING FACTOR 2; CSF2", "OMIM:138965": "CHEMOKINE, CXC MOTIF, LIGAND 6; CXCL6", "OMIM:138970": "COLONY-STIMULATING FACTOR 3; CSF3", "OMIM:138971": "COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R", "OMIM:138972": "CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG", "OMIM:138981": "GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB", "OMIM:139080": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GRAVES DISEASE AUTOANTIGEN), MEMBER 16; SLC25A16", "OMIM:139100": "GRAYING OF HAIR, PRECOCIOUS", "OMIM:139110": "CHEMOKINE, CXC MOTIF, LIGAND 2; CXCL2", "OMIM:139111": "CHEMOKINE, CXC MOTIF, LIGAND 3; CXCL3", "OMIM:139130": "GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3", "OMIM:139139": "NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1", "OMIM:139150": "RAS p21 PROTEIN ACTIVATOR 1; RASA1", "OMIM:139160": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA Z POLYPEPTIDE; GNAZ", "OMIM:139180": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING, POLYPEPTIDE 2 PSEUDOGENE 1; GNAI2P1", "OMIM:139185": "GROWTH ARREST-SPECIFIC 1; GAS1", "OMIM:139190": "GROWTH HORMONE-RELEASING HORMONE; GHRH", "OMIM:139191": "GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR", "OMIM:139200": "GROUP-SPECIFIC COMPONENT; GC", "OMIM:139220": "REMOVED FROM DATABASE", "OMIM:139230": "REMOVED FROM DATABASE", "OMIM:139240": "GROWTH HORMONE 2; GH2", "OMIM:139250": "GROWTH HORMONE 1; GH1", "OMIM:139255": "METALLOTHIONEIN 3; MT3", "OMIM:139259": "G1- TO S-PHASE TRANSITION 1; GSPT1", "OMIM:139260": "GUANINE DEAMINASE; GDA", "OMIM:139265": "GUANOSINE MONOPHOSPHATE REDUCTASE; GMPR", "OMIM:139270": "GUANYLATE KINASE 1; GUK1", "OMIM:139280": "GUANYLATE KINASE 2; GUK2", "OMIM:139290": "GUANYLATE KINASE 3; GUK3", "OMIM:139310": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 1; GNAI1", "OMIM:139311": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE O; GNAO1", "OMIM:139312": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL", "OMIM:139313": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11", "OMIM:139314": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-15; GNA15", "OMIM:139320": "GNAS COMPLEX LOCUS; GNAS", "OMIM:139330": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 1; GNAT1", "OMIM:139340": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; GNAT2", "OMIM:139350": "KERATIN 1, TYPE II; KRT1", "OMIM:139360": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 2; GNAI2", "OMIM:139370": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 3; GNAI3", "OMIM:139380": "GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1; GNB1", "OMIM:139390": "GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2; GNB2", "OMIM:139391": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; GNGT2", "OMIM:139392": "GUANYLATE CYCLASE ACTIVATOR 2A; GUCA2A", "OMIM:139395": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 3; GNAT3", "OMIM:139396": "GUANYLATE CYCLASE, SOLUBLE, ALPHA-1; GUCY1A1", "OMIM:139397": "GUANYLATE CYCLASE, SOLUBLE, BETA-1; GUCY1B1", "OMIM:139400": "HAIR WHORL", "OMIM:139450": "HAIR MORPHOLOGY 2; HRM2", "OMIM:139500": "HAIRY EARS", "OMIM:139605": "HES FAMILY bHLH TRANSCRIPTION FACTOR 1; HES1", "OMIM:139750": "HAND AND FOOT DEFORMITY WITH FLAT FACIES", "OMIM:139800": "HAND CLASPING PATTERN", "OMIM:139900": "HAND SKILL, RELATIVE; HSR", "OMIM:140050": "GRANZYME A; GZMA", "OMIM:140100": "HAPTOGLOBIN; HP", "OMIM:140210": "HAPTOGLOBIN-RELATED PROTEIN; HPR", "OMIM:140550": "HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A", "OMIM:140555": "HEAT-SHOCK 70-KD PROTEIN 6; HSPA6", "OMIM:140556": "HEAT-SHOCK PROTEIN FAMILY A (HSP70), MEMBER 7, PSEUDOGENE; HSPA7", "OMIM:140559": "HEAT-SHOCK 70-KD PROTEIN-LIKE 1; HSPA1L", "OMIM:140560": "HEAT-SHOCK 70-KD PROTEIN 2; HSPA2", "OMIM:140571": "HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 1; HSP90AA1", "OMIM:140572": "HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS B, MEMBER 1; HSP90AB1", "OMIM:140575": "HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 2, PSEUDOGENE; HSP90AA2P", "OMIM:140580": "HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1", "OMIM:140581": "HEAT-SHOCK TRANSCRIPTION FACTOR 2; HSF2", "OMIM:140750": "SUPPRESSOR OF TUMORIGENICITY 5; ST5", "OMIM:141180": "NCK-ASSOCIATED PROTEIN 1-LIKE; NCKAP1L", "OMIM:141250": "HEME OXYGENASE 1; HMOX1", "OMIM:141251": "HEME OXYGENASE 2; HMOX2", "OMIM:141700": "HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES", "OMIM:141750": "ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, DELETION TYPE", "OMIM:141800": "HEMOGLOBIN--ALPHA LOCUS 1; HBA1", "OMIM:141850": "HEMOGLOBIN--ALPHA LOCUS 2; HBA2", "OMIM:141860": "HEMOGLOBIN--ALPHA LOCUS 3", "OMIM:141900": "HEMOGLOBIN--BETA LOCUS; HBB", "OMIM:142100": "HEMOGLOBIN--EPSILON LOCUS; HBE1", "OMIM:142200": "HEMOGLOBIN, GAMMA A; HBG1", "OMIM:142210": "HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER D; HIST1H1D", "OMIM:142220": "HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER E; HIST1H1E", "OMIM:142230": "CD34 ANTIGEN; CD34", "OMIM:142240": "HEMOGLOBIN--THETA-1 LOCUS; HBQ1", "OMIM:142250": "HEMOGLOBIN, GAMMA G; HBG2", "OMIM:142290": "HEMOPEXIN; HPX", "OMIM:142310": "HEMOGLOBIN--ZETA LOCUS; HBZ", "OMIM:142335": "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5", "OMIM:142360": "HEPARIN COFACTOR II; HCF2", "OMIM:142370": "HCK PROTOONCOGENE, SRC FAMILY TYROSINE KINASE; HCK", "OMIM:142385": "HEPATIC LEUKEMIA FACTOR; HLF", "OMIM:142390": "HEPATIC PROTEIN; HEP10", "OMIM:142395": "HEPATITIS B VACCINE, RESPONSE TO", "OMIM:142408": "MACROPHAGE STIMULATING 1; MST1", "OMIM:142409": "HEPATOCYTE GROWTH FACTOR; HGF", "OMIM:142410": "HNF1 HOMEOBOX A; HNF1A", "OMIM:142420": "REMOVED FROM DATABASE", "OMIM:142440": "HEPSIN; HPN", "OMIM:142445": "NEUREGULIN 1; NRG1", "OMIM:142460": "SYNDECAN 2; SDC2", "OMIM:142461": "HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2", "OMIM:142470": "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2", "OMIM:142500": "HETEROCHROMIA IRIDIS", "OMIM:142560": "DExD-BOX HELICASE 39B; DDX39B", "OMIM:142570": "HEXOKINASE 3; HK3", "OMIM:142580": "PROLINE-RICH COILED-COIL PROTEIN 2A; PRRC2A", "OMIM:142590": "BAG COCHAPERONE 6; BAG6", "OMIM:142600": "HEXOKINASE 1; HK1", "OMIM:142610": "G-PATCH DOMAIN- AND ANKYRIN REPEATS-CONTAINING PROTEIN 1; GPANK1", "OMIM:142620": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 16A, PHOSPHOLIPASE; ABHD16A", "OMIM:142622": "HIPPOCALCIN; HPCA", "OMIM:142625": "HIRSUTISM, SKELETAL DYSPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:142640": "HISTIDINE-RICH GLYCOPROTEIN; HRG", "OMIM:142660": "HEXOSAMINIDASE C; HEXC", "OMIM:142695": "HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN; HDLBP", "OMIM:142701": "HISTATIN 1; HTN1", "OMIM:142702": "HISTATIN 3; HTN3", "OMIM:142703": "HISTAMINE RECEPTOR H2; HRH2", "OMIM:142704": "HISTIDINE DECARBOXYLASE; HDC", "OMIM:142705": "HISTIDINE-RICH CALCIUM-BINDING PROTEIN; HRC", "OMIM:142708": "H1 HISTONE FAMILY, MEMBER 0; H1F0", "OMIM:142709": "HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER A; HIST1H1A", "OMIM:142710": "HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER C; HIST1H1C", "OMIM:142711": "HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER B; HIST1H1B", "OMIM:142712": "HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER T; HIST1H1T", "OMIM:142720": "HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER A3; HIST2H2AA3", "OMIM:142730": "HISTIOCYTIC DERMATOARTHRITIS", "OMIM:142750": "H4 CLUSTERED HISTONE 14; H4C14", "OMIM:142763": "H2A.Z VARIANT HISTONE 1; H2AZ1", "OMIM:142765": "REGULATORY FACTOR X, 2; RFX2", "OMIM:142770": "HLA MODIFIER", "OMIM:142780": "HISTONE GENE CLUSTER 2, H3 HISTONE FAMILY, MEMBER C; HIST2H3C", "OMIM:142790": "CD74 ANTIGEN; CD74", "OMIM:142795": "HLA-8 HISTOCOMPATIBILITY TYPE; HLA8", "OMIM:142800": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A", "OMIM:142810": "HISTIDYL-tRNA SYNTHETASE 1; HARS1", "OMIM:142830": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B", "OMIM:142840": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C", "OMIM:142855": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM ALPHA; HLA-DMA", "OMIM:142856": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM BETA; HLA-DMB", "OMIM:142857": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1", "OMIM:142858": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1", "OMIM:142860": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA", "OMIM:142870": "REMOVED FROM DATABASE", "OMIM:142871": "HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G", "OMIM:142880": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1", "OMIM:142890": "HLA-MT HISTOCOMPATIBILITY TYPE; HLA-MT", "OMIM:142910": "3-HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR", "OMIM:142920": "HLA-DO HISTOCOMPATIBILITY TYPE; HLA-DO", "OMIM:142930": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DN ALPHA; HLA-DNA", "OMIM:142940": "3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 1; HMGCS1", "OMIM:142950": "HOMEOBOX A7; HOXA7", "OMIM:142951": "HOMEOBOX A6; HOXA6", "OMIM:142952": "HOMEOBOX A5; HOXA5", "OMIM:142953": "HOMEOBOX A4; HOXA4", "OMIM:142954": "HOMEOBOX A3; HOXA3", "OMIM:142955": "HOMEOBOX A1; HOXA1", "OMIM:142956": "HOMEOBOX A9; HOXA9", "OMIM:142957": "HOMEOBOX A10; HOXA10", "OMIM:142958": "HOMEOBOX A11; HOXA11", "OMIM:142959": "HOMEOBOX A13; HOXA13", "OMIM:142960": "HOMEOBOX B5; HOXB5", "OMIM:142961": "HOMEOBOX B6; HOXB6", "OMIM:142962": "HOMEOBOX B7; HOXB7", "OMIM:142963": "HOMEOBOX B8; HOXB8", "OMIM:142964": "HOMEOBOX B9; HOXB9", "OMIM:142965": "HOMEOBOX B4; HOXB4", "OMIM:142966": "HOMEOBOX B3; HOXB3", "OMIM:142967": "HOMEOBOX B2; HOXB2", "OMIM:142968": "HOMEOBOX B1; HOXB1", "OMIM:142970": "HOMEOBOX C8; HOXC8", "OMIM:142971": "HOMEOBOX C9; HOXC9", "OMIM:142972": "HOMEOBOX C6; HOXC6", "OMIM:142973": "HOMEOBOX C5; HOXC5", "OMIM:142974": "HOMEOBOX C4; HOXC4", "OMIM:142975": "HOMEOBOX C12; HOXC12", "OMIM:142976": "HOMEOBOX C13; HOXC13", "OMIM:142980": "HOMEOBOX D3; HOXD3", "OMIM:142981": "HOMEOBOX D4; HOXD4", "OMIM:142982": "HOMEOBOX D9; HOXD9", "OMIM:142983": "MSH HOMEOBOX 1; MSX1", "OMIM:142984": "HOMEOBOX D10; HOXD10", "OMIM:142985": "HOMEOBOX D8; HOXD8", "OMIM:142986": "HOMEOBOX D11; HOXD11", "OMIM:142987": "HOMEOBOX D1; HOXD1", "OMIM:142988": "HOMEOBOX D12; HOXD12", "OMIM:142989": "HOMEOBOX D13; HOXD13", "OMIM:142991": "EVEN-SKIPPED HOMEOBOX 2; EVX2", "OMIM:142992": "H6 FAMILY HOMEOBOX 1; HMX1", "OMIM:142993": "VISUAL SYSTEM HOMEOBOX 2; VSX2", "OMIM:142994": "MOTOR NEURON AND PANCREAS HOMEOBOX 1; MNX1", "OMIM:142995": "H.20-LIKE HOMEOBOX; HLX", "OMIM:142996": "EVEN-SKIPPED HOMEOBOX 1; EVX1", "OMIM:143010": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, E; HLA-E", "OMIM:143020": "HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED; HPA1", "OMIM:143023": "RAS ASSOCIATION DOMAIN FAMILY, MEMBER 7; RASSF7", "OMIM:143024": "GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 1; GNL1", "OMIM:143025": "HTLV-RELATED ENDOGENOUS SEQUENCE 1; HRES1", "OMIM:143030": "CD9 ANTIGEN; CD9", "OMIM:143040": "ANTIGEN DEFINED BY MONOCLONAL ANTIBODY F10.44.2", "OMIM:143054": "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 2; HIVEP2", "OMIM:143055": "CYCLIN T1; CCNT1", "OMIM:143060": "HUMAN LEUKOCYTE ANTIGEN MIC6; MIC6", "OMIM:143070": "REMOVED FROM DATABASE", "OMIM:143080": "REMOVED FROM DATABASE", "OMIM:143089": "FORKHEAD BOX N2; FOXN2", "OMIM:143110": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, F; HLA-F", "OMIM:143170": "MALE-ENHANCED ANTIGEN 1; MEA1", "OMIM:143450": "HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT; HADHB", "OMIM:143460": "5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR; HTOR", "OMIM:144020": "HYPERCHOLESTEROLEMIA SUPPRESSOR", "OMIM:144120": "HYPERIMMUNOGLOBULIN G1(A1) SYNDROME", "OMIM:144190": "HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME", "OMIM:144800": "HYPEROSTOSIS FRONTALIS INTERNA", "OMIM:145270": "HYPERPROGLUCAGONEMIA", "OMIM:145295": "HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL", "OMIM:145400": "HYPERTELORISM", "OMIM:145505": "ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 3; ACSM3", "OMIM:146580": "HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE SUPPRESSOR", "OMIM:146630": "INTERCELLULAR ADHESION MOLECULE 2; ICAM2", "OMIM:146631": "INTERCELLULAR ADHESION MOLECULE 3; ICAM3", "OMIM:146640": "INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 2; ITIH2", "OMIM:146650": "INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 3; ITIH3", "OMIM:146660": "INTERLEUKIN 7; IL7", "OMIM:146661": "INTERLEUKIN 7 RECEPTOR; IL7R", "OMIM:146680": "INSULIN-DEGRADING ENZYME; IDE", "OMIM:146690": "IMP DEHYDROGENASE 1; IMPDH1", "OMIM:146691": "IMP DEHYDROGENASE 2; IMPDH2", "OMIM:146710": "INTERLEUKIN 2 RECEPTOR, BETA; IL2RB", "OMIM:146730": "INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1", "OMIM:146731": "INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 2; IGFBP2", "OMIM:146732": "INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3", "OMIM:146733": "INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4", "OMIM:146734": "INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 5; IGFBP5", "OMIM:146735": "INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 6; IGFBP6", "OMIM:146738": "INSULIN-LIKE 3; INSL3", "OMIM:146740": "Fc FRAGMENT OF IgG RECEPTOR IIIa; FCGR3A", "OMIM:146760": "Fc FRAGMENT OF IgG RECEPTOR Ia; FCGR1A", "OMIM:146770": "IMMUNOGLOBULIN LAMBDA-LIKE POLYPEPTIDE 1; IGLL1", "OMIM:146780": "IMMUNOGLOBULIN KAPPA DELETING ELEMENT; IGKDEL", "OMIM:146790": "Fc GAMMA RECEPTOR IIa; FCGR2A", "OMIM:146810": "IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRPHEGAL; IPHEG", "OMIM:146820": "IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT; IGAT", "OMIM:146880": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1", "OMIM:146900": "IgA CONSTANT HEAVY CHAIN 1; IGHA1", "OMIM:146910": "IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE CLUSTER; IGHD@", "OMIM:146920": "ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR", "OMIM:146928": "CHEMOKINE, CXC MOTIF, RECEPTOR 2; CXCR2", "OMIM:146929": "CHEMOKINE, CXC MOTIF, RECEPTOR 1; CXCR1", "OMIM:146930": "CHEMOKINE, CXC MOTIF, LIGAND 8; CXCL8", "OMIM:146931": "INTERLEUKIN 9; IL9", "OMIM:146933": "INTERLEUKIN 10 RECEPTOR, ALPHA; IL10RA", "OMIM:146950": "IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRHGAL; IHG", "OMIM:146960": "IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRTGAL; ITG", "OMIM:146970": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN JOINING GENE CLUSTER; IGKJ@", "OMIM:146980": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN VARIABLE GENE CLUSTER; IGKV@", "OMIM:146990": "IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY REGION 2; IGHDY2", "OMIM:147000": "IgA CONSTANT HEAVY CHAIN 2; IGHA2", "OMIM:147010": "IMMUNOGLOBULIN HEAVY CHAIN JOINING GENE CLUSTER; IGHJ@", "OMIM:147020": "IMMUNOGLOBULIN HEAVY CHAIN CONSTANT REGION MU; IGHM", "OMIM:147040": "INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 2; IFIT2", "OMIM:147045": "Fc FRAGMENT OF IgA, RECEPTOR FOR; FCAR", "OMIM:147061": "IMMUNOGLOBULIN E CONCENTRATION, SERUM; IGES", "OMIM:147070": "IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE CLUSTER; IGHV@", "OMIM:147080": "IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGLPHE 1; IGLP1", "OMIM:147090": "IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGLPHE 2; IGLP2", "OMIM:147100": "IgG HEAVY CHAIN LOCUS; IGHG1", "OMIM:147110": "IMMUNOGLOBULIN HEAVY CHAIN CONSTANT REGION GAMMA-2; IGHG2", "OMIM:147120": "IMMUNOGLOBULIN Gm3; IGHG3", "OMIM:147130": "IMMUNOGLOBULIN Gm4; IGHG4", "OMIM:147138": "MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 2; MS4A2", "OMIM:147139": "Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, GAMMA SUBUNIT; FCER1G", "OMIM:147140": "Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, ALPHA SUBUNIT; FCER1A", "OMIM:147141": "TRANSCRIPTION FACTOR 3; TCF3", "OMIM:147150": "MX DYNAMIN-LIKE GTPase 1; MX1", "OMIM:147170": "IMMUNOGLOBULIN: HEAVY DELTA CHAIN; IGHD", "OMIM:147180": "IMMUNOGLOBULIN: HEAVY EPSILON CHAIN; IGHE", "OMIM:147183": "RECOMBINATION SIGNAL-BINDING PROTEIN FOR IMMUNOGLOBULIN KAPPA J REGION; RBPJ", "OMIM:147185": "IMMUNOGLOBULIN KAPPA VARIABLE 1/OR2-108; IGKV1OR2108", "OMIM:147200": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN CONSTANT REGION; IGKC", "OMIM:147220": "IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1", "OMIM:147230": "IMMUNOGLOBULIN LAMBDA LIGHT CHAIN JOINING GENE CLUSTER; IGLJ@", "OMIM:147240": "IMMUNOGLOBULIN LAMBDA LIGHT CHAIN VARIABLE GENE CLUSTER; IGLV@", "OMIM:147245": "CD79B ANTIGEN; CD79B", "OMIM:147260": "IMMUNOGLOBULIN SWITCH SEQUENCES", "OMIM:147263": "INOSITOL POLYPHOSPHATE-1-PHOSPHATASE; INPP1", "OMIM:147264": "INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 75-KD; INPP5B", "OMIM:147265": "INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1", "OMIM:147267": "INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR, TYPE 3; ITPR3", "OMIM:147270": "INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1; ITIH1", "OMIM:147280": "INSULIN-LIKE GROWTH FACTOR II RECEPTOR; IGF2R", "OMIM:147290": "INHIBIN, BETA A; INHBA", "OMIM:147300": "INCISORS, LONG UPPER CENTRAL", "OMIM:147310": "CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10", "OMIM:147320": "INSULIN RECEPTORS, FAMILIAL INCREASE IN", "OMIM:147360": "INVOLUCRIN; IVL", "OMIM:147370": "INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R", "OMIM:147380": "INHIBIN, ALPHA; INHA", "OMIM:147390": "INHIBIN, BETA B; INHBB", "OMIM:147410": "REMOVED FROM DATABASE", "OMIM:147435": "INDOLEAMINE 2,3-DIOXYGENASE; IDO1", "OMIM:147440": "INSULIN-LIKE GROWTH FACTOR I; IGF1", "OMIM:147450": "SUPEROXIDE DISMUTASE 1; SOD1", "OMIM:147460": "SUPEROXIDE DISMUTASE 2; SOD2", "OMIM:147470": "INSULIN-LIKE GROWTH FACTOR II; IGF2", "OMIM:147485": "INTRACISTERNAL A PARTICLE-PROMOTED POLYPEPTIDE; IPP", "OMIM:147490": "REMOVED FROM DATABASE", "OMIM:147510": "INSULIN-RELATED DNA POLYMORPHISM; IRDN", "OMIM:147520": "INOSINE TRIPHOSPHATASE; ITPA", "OMIM:147521": "INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE A; ITPKA", "OMIM:147522": "INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE B; ITPKB", "OMIM:147530": "INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY", "OMIM:147545": "INSULIN RECEPTOR SUBSTRATE 1; IRS1", "OMIM:147553": "INTERFERON, OMEGA-1; IFNW1", "OMIM:147556": "INTEGRIN, ALPHA-6; ITGA6", "OMIM:147557": "INTEGRIN, BETA-4; ITGB4", "OMIM:147558": "INTEGRIN, BETA-6; ITGB6", "OMIM:147559": "INTEGRIN, BETA-7; ITGB7", "OMIM:147560": "INTERFERON ANTIVIRAL DEPRESSOR", "OMIM:147561": "INTEGRIN, BETA-5; ITGB5", "OMIM:147562": "INTERFERON, ALPHA-2; IFNA2", "OMIM:147563": "INTEGRIN-BINDING SIALOPROTEIN; IBSP", "OMIM:147564": "INTERFERON, ALPHA-4; IFNA4", "OMIM:147565": "INTERFERON, ALPHA-5; IFNA5", "OMIM:147566": "INTERFERON, ALPHA-6; IFNA6", "OMIM:147567": "INTERFERON, ALPHA-7; IFNA7", "OMIM:147568": "INTERFERON, ALPHA-8; IFNA8", "OMIM:147569": "INTERFERON-GAMMA RECEPTOR 2; IFNGR2", "OMIM:147570": "INTERFERON, GAMMA; IFNG", "OMIM:147571": "UBIQUITIN-LIKE MODIFIER ISG15; ISG15", "OMIM:147572": "INTERFERON-ALPHA-INDUCIBLE PROTEIN 6; IFI6", "OMIM:147573": "INTERFERON PRODUCTION REGULATOR; IFNR", "OMIM:147574": "INTERFERON REGULATORY FACTOR 9; IRF9", "OMIM:147575": "INTERFERON REGULATORY FACTOR 1; IRF1", "OMIM:147576": "INTERFERON REGULATORY FACTOR 2; IRF2", "OMIM:147577": "INTERFERON, ALPHA-10; IFNA10", "OMIM:147578": "INTERFERON, ALPHA-13; IFNA13", "OMIM:147579": "INTERFERON, ALPHA-14; IFNA14", "OMIM:147580": "INTERFERON, ALPHA-16; IFNA16", "OMIM:147582": "IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 2; IREB2", "OMIM:147583": "INTERFERON, ALPHA-17; IFNA17", "OMIM:147584": "INTERFERON, ALPHA-21; IFNA21", "OMIM:147586": "INTERFERON-GAMMA-INDUCIBLE PROTEIN 16; IFI16", "OMIM:147620": "INTERLEUKIN 6; IL6", "OMIM:147625": "ISLET CELL AUTOANTIGEN 1; ICA1", "OMIM:147640": "INTERFERON, BETA-1; IFNB1", "OMIM:147650": "ISOCITRATE DEHYDROGENASE, NADP(+), 2; IDH2", "OMIM:147660": "INTERFERON, ALPHA-1; IFNA1", "OMIM:147670": "INSULIN RECEPTOR; INSR", "OMIM:147671": "INSULIN RECEPTOR-RELATED RECEPTOR; INSRR", "OMIM:147678": "CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1", "OMIM:147679": "INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN", "OMIM:147680": "INTERLEUKIN 2; IL2", "OMIM:147681": "INTERLEUKIN 11; IL11", "OMIM:147683": "INTERLEUKIN 13; IL13", "OMIM:147684": "REMOVED FROM DATABASE", "OMIM:147685": "FORKHEAD BOX K2; FOXK2", "OMIM:147690": "INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 1; IFIT1", "OMIM:147700": "ISOCITRATE DEHYDROGENASE, NADP(+), 1; IDH1", "OMIM:147720": "INTERLEUKIN 1-BETA; IL1B", "OMIM:147730": "INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA", "OMIM:147740": "INTERLEUKIN 3; IL3", "OMIM:147760": "INTERLEUKIN 1-ALPHA; IL1A", "OMIM:147770": "JOHNSON NEUROECTODERMAL SYNDROME", "OMIM:147780": "INTERLEUKIN 4; IL4", "OMIM:147781": "INTERLEUKIN 4 RECEPTOR; IL4R", "OMIM:147790": "JOINING CHAIN OF MULTIMERIC IgA AND IgM; JCHAIN", "OMIM:147795": "JANUS KINASE 1; JAK1", "OMIM:147796": "JANUS KINASE 2; JAK2", "OMIM:147810": "INTERLEUKIN 1 RECEPTOR, TYPE I; IL1R1", "OMIM:147811": "INTERLEUKIN 1 RECEPTOR, TYPE II; IL1R2", "OMIM:147830": "T-CELL TUMOR INVASION AND METASTASIS 1; TTIM1", "OMIM:147840": "INTERCELLULAR ADHESION MOLECULE 1; ICAM1", "OMIM:147850": "INTERLEUKIN 5; IL5", "OMIM:147851": "INTERLEUKIN 5 RECEPTOR, ALPHA; IL5RA", "OMIM:147860": "INTERFERON, BETA-3; IFNB3", "OMIM:147870": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2", "OMIM:147880": "INTERLEUKIN 6 RECEPTOR; IL6R", "OMIM:147890": "MX DYNAMIN-LIKE GTPase 2; MX2", "OMIM:147910": "KALLIKREIN 1; KLK1", "OMIM:147935": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 4; SERPINA4", "OMIM:147940": "ISLET AMYLOID POLYPEPTIDE; IAPP", "OMIM:147960": "KALLIKREIN-RELATED PEPTIDASE 2; KLK2", "OMIM:148020": "KERATIN 19; KRT19", "OMIM:148021": "KERATIN-ASSOCIATED PROTEIN 5-9; KRTAP5-9", "OMIM:148022": "KERATIN-ASSOCIATED PROTEIN 5-1; KRTAP5-1", "OMIM:148030": "KERATIN 15, TYPE I; KRT15", "OMIM:148040": "KERATIN 5, TYPE II; KRT5", "OMIM:148041": "KERATIN 6A, TYPE II; KRT6A", "OMIM:148042": "KERATIN 6B, TYPE II; KRT6B", "OMIM:148043": "KERATIN 3, TYPE II; KRT3", "OMIM:148059": "KERATIN 7, TYPE II; KRT7", "OMIM:148060": "KERATIN 8, TYPE II; KRT8", "OMIM:148065": "KERATIN 13, TYPE I; KRT13", "OMIM:148066": "KERATIN 14, TYPE I; KRT14", "OMIM:148067": "KERATIN 16, TYPE I; KRT16", "OMIM:148069": "KERATIN 17, TYPE I; KRT17", "OMIM:148070": "KERATIN 18, TYPE I; KRT18", "OMIM:148080": "KERATIN 10, TYPE I; KRT10", "OMIM:148180": "FIBROBLAST GROWTH FACTOR 7; FGF7", "OMIM:148360": "KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY", "OMIM:148390": "KERATOSIS, FAMILIAL ACTINIC", "OMIM:148750": "KINASE-LIKE PROTEIN G7P1; G7P1", "OMIM:148760": "KINESIN FAMILY MEMBER 11; KIF11", "OMIM:149750": "LACTALBUMIN, ALPHA; LALBA", "OMIM:150000": "LACTATE DEHYDROGENASE A; LDHA", "OMIM:150100": "LACTATE DEHYDROGENASE B; LDHB", "OMIM:150150": "LACTATE DEHYDROGENASE C; LDHC", "OMIM:150200": "CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1", "OMIM:150205": "LACTOPEROXIDASE; LPO", "OMIM:150210": "LACTOTRANSFERRIN; LTF", "OMIM:150240": "LAMININ, BETA-1; LAMB1", "OMIM:150290": "LAMININ, GAMMA-1; LAMC1", "OMIM:150292": "LAMININ, GAMMA-2; LAMC2", "OMIM:150310": "LAMININ, BETA-3; LAMB3", "OMIM:150320": "LAMININ, ALPHA-1; LAMA1", "OMIM:150325": "LAMININ, BETA-2; LAMB2", "OMIM:150330": "LAMIN A/C; LMNA", "OMIM:150340": "LAMIN B1; LMNB1", "OMIM:150341": "LAMIN B2; LMNB2", "OMIM:150360": "LARYNGEAL WEB, FAMILIAL", "OMIM:150370": "RIBOSOMAL PROTEIN SA; RPSA", "OMIM:150390": "LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 1; LTBP1", "OMIM:150500": "LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT", "OMIM:150570": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 1; LGALS1", "OMIM:150571": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2; LGALS2", "OMIM:150590": "LEG ULCERS, FAMILIAL, OF JUVENILE ONSET", "OMIM:151020": "LENTIL AGGLUTININ BINDING", "OMIM:151250": "LETHAL ANTIGEN--A1; AL-A1", "OMIM:151290": "BETA-1,3-GLUCURONYLTRANSFERASE 1; B3GAT1", "OMIM:151300": "LEUCYL-CYSTINYL AMINOPEPTIDASE; LNPEP", "OMIM:151310": "LEUCINE TRANSPORT, HIGH; LEUT", "OMIM:151350": "LEUCYL-tRNA SYNTHETASE 1; LARS1", "OMIM:151385": "RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1", "OMIM:151410": "BCR ACTIVATOR OF RhoGEF AND GTPase; BCR", "OMIM:151440": "LYMPHOBLASTIC LEUKEMIA-DERIVED SEQUENCE 1; LYL1", "OMIM:151441": "LEUKEMIA/LYMPHOMA, CHRONIC B-CELL, 5; BCL5", "OMIM:151442": "STATHMIN 1; STMN1", "OMIM:151443": "LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR", "OMIM:151445": "Fc FRAGMENT OF IgE, LOW AFFINITY II, RECEPTOR FOR; FCER2", "OMIM:151450": "LEUKOCYTE ANTIGEN GROUP FIVE; LAG5", "OMIM:151460": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC", "OMIM:151510": "INTEGRIN, ALPHA-X; ITGAX", "OMIM:151520": "LEUKOCYTE TYROSINE KINASE; LTK", "OMIM:151523": "LEUKOCYTE SURFACE ANTIGEN CD37; CD37", "OMIM:151525": "LEUKOCYTE SURFACE ANTIGEN CD53; CD53", "OMIM:151530": "ALANYL AMINOPEPTIDASE; ANPEP", "OMIM:151550": "REMOVED FROM DATABASE", "OMIM:151570": "LEUKOTRIENE A4 HYDROLASE; LTA4H", "OMIM:151590": "LICHEN SCLEROSUS ET ATROPHICUS; LSA", "OMIM:151625": "LIGATIN; LGTN", "OMIM:151626": "LINE RETROTRANSPOSABLE ELEMENT 1; LRE1", "OMIM:151627": "LINKIN", "OMIM:151628": "LINE RETROTRANSPOSABLE ELEMENT 2; LRE2", "OMIM:151670": "LIPASE, HEPATIC; LIPC", "OMIM:151675": "LIPOCALIN 1; LCN1", "OMIM:151690": "ANNEXIN A1; ANXA1", "OMIM:151740": "ANNEXIN A2; ANXA2", "OMIM:151750": "LIPASE, HORMONE-SENSITIVE; LIPE", "OMIM:151990": "LIPOPOLYSACCHARIDE-BINDING PROTEIN; LBP", "OMIM:152100": "LIPOPROTEIN TYPES--Ld SYSTEM", "OMIM:152200": "LIPOPROTEIN(a); LPA", "OMIM:152300": "LIPOPROTEIN TYPES--Lt SYSTEM", "OMIM:152310": "TISSUE FACTOR PATHWAY INHIBITOR; TFPI", "OMIM:152390": "ARACHIDONATE 5-LIPOXYGENASE; ALOX5", "OMIM:152391": "ARACHIDONATE 12-OXIDOREDUCTASE; ALOX12", "OMIM:152392": "ARACHIDONATE 15-LIPOXYGENASE; ALOX15", "OMIM:152400": "LIPOPROTEIN, VARIANT OF BETA", "OMIM:152422": "LOCUS CONTROL REGION, ALPHA", "OMIM:152424": "LOCUS CONTROL REGION, BETA", "OMIM:152425": "ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 1; ACSL1", "OMIM:152427": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2", "OMIM:152430": "LONGEVITY 1", "OMIM:152445": "LORICRIN CORNIFIED ENVELOPE PRECURSOR PROTEIN; LORICRIN", "OMIM:152450": "LOW DENSITY LIPOPROTEIN, VARIATION IN MOLECULAR WEIGHT OF", "OMIM:152600": "LUNULAE OF FINGERNAILS", "OMIM:152690": "X-RAY REPAIR CROSS COMPLEMENTING 6; XRCC6", "OMIM:152760": "GONADOTROPIN-RELEASING HORMONE 1; GNRH1", "OMIM:152780": "LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB", "OMIM:152790": "LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR", "OMIM:153240": "SELECTIN L; SELL", "OMIM:153243": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 8; TNFRSF8", "OMIM:153245": "LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1", "OMIM:153280": "LYMPHOCYTE CYTOSOL POLYPEPTIDE, 40-KD", "OMIM:153290": "LYMPHOCYTE CYTOSOL POLYPEPTIDE, 49-KD", "OMIM:153310": "CHARCOT-LEYDEN CRYSTAL PROTEIN; CLC", "OMIM:153330": "LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 1; LAMP1", "OMIM:153337": "LYMPHOCYTE ACTIVATION GENE 3; LAG3", "OMIM:153340": "LYMPHOCYTE ANTIGEN CD5; CD5", "OMIM:153370": "INTEGRIN, ALPHA-L; ITGAL", "OMIM:153380": "LYMPHOCYTE CYTOSOL POLYPEPTIDE, 20-KD", "OMIM:153390": "LCK PROTOONCOGENE, SRC FAMILY TYROSINE KINASE; LCK", "OMIM:153420": "CD58 ANTIGEN; CD58", "OMIM:153430": "LYMPHOCYTE CYTOSOLIC PROTEIN 1; LCP1", "OMIM:153432": "LYMPHOCYTE-SPECIFIC PROTEIN; LSP1", "OMIM:153435": "LYMPHOKINE-ACTIVATED KILLER CELL LIGAND; LAKL", "OMIM:153440": "LYMPHOTOXIN-ALPHA; LTA", "OMIM:153450": "LYSOZYME; LYZ", "OMIM:153454": "PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1", "OMIM:153455": "LYSYL OXIDASE; LOX", "OMIM:153456": "LYSYL OXIDASE-LIKE 1; LOXL1", "OMIM:153615": "CAPPING PROTEIN, GELSOLIN-LIKE; CAPG", "OMIM:153618": "MANNOSE RECEPTOR, C-TYPE, 1; MRC1", "OMIM:153619": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3", "OMIM:153620": "MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF", "OMIM:153622": "MACROPHAGE SCAVENGER RECEPTOR; MSR1", "OMIM:153634": "MACROPHAGE ANTIGEN CD68; CD68", "OMIM:154030": "Y-BOX BINDING PROTEIN 1; YBX1", "OMIM:154040": "NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER E; NELFE", "OMIM:154045": "LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2", "OMIM:154050": "MAJOR INTRINSIC PROTEIN OF LENS FIBER; MIP", "OMIM:154100": "MALATE DEHYDROGENASE 2; MDH2", "OMIM:154200": "MALATE DEHYDROGENASE 1; MDH1", "OMIM:154235": "MALE GERM CELL-ASSOCIATED KINASE; MAK", "OMIM:154250": "MALIC ENZYME 1; ME1", "OMIM:154270": "MALIC ENZYME 2; ME2", "OMIM:154280": "SUPPRESSOR OF ANCHORAGE INDEPENDENCE 1; SAI1", "OMIM:154360": "MALTASE-GLUCOAMYLASE; MGAM", "OMIM:154365": "PROTEASOME 26S SUBUNIT, ATPase, 2; PSMC2", "OMIM:154370": "MAMMASTATIN", "OMIM:154540": "MANNOSE 6-PHOSPHATE RECEPTOR, CATION-DEPENDENT; M6PR", "OMIM:154545": "MANNOSE-BINDING LECTIN 2; MBL2", "OMIM:154550": "MANNOSEPHOSPHATE ISOMERASE; MPI", "OMIM:154580": "MANNOSIDASE, ALPHA, CLASS 2C, MEMBER 1; MAN2C1", "OMIM:154582": "MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 1; MAN2A1", "OMIM:154750": "MARFANOID HYPERMOBILITY SYNDROME", "OMIM:154790": "PROTEASE INHIBITOR 5; PI5", "OMIM:154850": "MASTICATORY MUSCLES, HYPERTROPHY OF", "OMIM:154870": "MATRIX GAMMA-CARBOXYGLUTAMIC ACID; MGP", "OMIM:154950": "MAX PROTEIN; MAX", "OMIM:155120": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11", "OMIM:155150": "MEDIAN-ULNAR NERVE COMMUNICATIONS", "OMIM:155540": "MELANOCORTIN 3 RECEPTOR; MC3R", "OMIM:155541": "MELANOCORTIN 4 RECEPTOR; MC4R", "OMIM:155550": "PREMELANOSOME PROTEIN; PMEL", "OMIM:155555": "MELANOCORTIN 1 RECEPTOR; MC1R", "OMIM:155730": "CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1", "OMIM:155735": "MELANOMA ADHESION MOLECULE; MCAM", "OMIM:155740": "CD63 ANTIGEN; CD63", "OMIM:155750": "MELANOTRANSFERRIN; MELTF", "OMIM:155760": "AGGRECAN; ACAN", "OMIM:155770": "MELANOMA TUMOR ANTIGEN GP90", "OMIM:155960": "REMOVED FROM DATABASE", "OMIM:155970": "CD200 ANTIGEN; CD200", "OMIM:156100": "MN1 PROTOONCOGENE, TRANSCRIPTIONAL REGULATOR; MN1", "OMIM:156225": "LAMININ, ALPHA-2; LAMA2", "OMIM:156300": "METACHROMASIA OF FIBROBLASTS", "OMIM:156349": "METALLOTHIONEIN 1B; MT1B", "OMIM:156350": "METALLOTHIONEIN 1A; MT1A", "OMIM:156351": "METALLOTHIONEIN 1E; MT1E", "OMIM:156352": "METALLOTHIONEIN 1F; MT1F", "OMIM:156353": "METALLOTHIONEIN 1G; MT1G", "OMIM:156354": "METALLOTHIONEIN 1H; MT1H", "OMIM:156355": "METALLOTHIONEIN 1I, PSEUDOGENE; MT1IP", "OMIM:156356": "METALLOTHIONEIN 1J, PSEUDOGENE; MT1JP", "OMIM:156357": "METALLOTHIONEIN 1K; MT1K", "OMIM:156358": "METALLOTHIONEIN 1L, PSEUDOGENE; MT1LP", "OMIM:156359": "METALLOTHIONEIN 1X; MT1X", "OMIM:156360": "METALLOTHIONEIN 2A; MT2A", "OMIM:156490": "NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 1; NME1", "OMIM:156491": "NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 2; NME2", "OMIM:156535": "METHYL-CpG-BINDING DOMAIN PROTEIN 1; MBD1", "OMIM:156540": "METHYLTHIOADENOSINE PHOSPHORYLASE; MTAP", "OMIM:156560": "METHIONYL-tRNA SYNTHETASE 1; MARS1", "OMIM:156565": "N-METHYLPURINE DNA GLYCOSYLASE; MPG", "OMIM:156569": "METHYLGUANINE-DNA METHYLTRANSFERASE; MGMT", "OMIM:156570": "5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR", "OMIM:156620": "MICROCEPHALY-DEAFNESS SYNDROME", "OMIM:156790": "MICROFIBRILLAR-ASSOCIATED PROTEIN 2; MFAP2", "OMIM:156810": "MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD", "OMIM:156845": "MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF", "OMIM:157129": "MICROTUBULE-ASSOCIATED PROTEIN 1B; MAP1B", "OMIM:157130": "MICROTUBULE-ASSOCIATED PROTEIN 2; MAP2", "OMIM:157132": "MICROTUBULE-ASSOCIATED PROTEIN 4; MAP4", "OMIM:157140": "MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT", "OMIM:157145": "MICROSEMINOPROTEIN, BETA; MSMB", "OMIM:157147": "MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; MTTP", "OMIM:157150": "MICROSPHEROPHAKIA WITH HERNIA", "OMIM:157151": "MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA", "OMIM:157200": "MIDPHALANGEAL HAIR", "OMIM:157560": "MINISATELLITE 33.6", "OMIM:157570": "MINISATELLITE 33.15", "OMIM:157655": "NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1; NDUFS1", "OMIM:157660": "MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP", "OMIM:157680": "CELL DIVISION CYCLE 25C; CDC25C", "OMIM:157960": "MOLONEY LEUKEMIA VIRUS INTEGRATION SITE 2, MOUSE, HOMOLOG OF; MLVI2", "OMIM:157970": "PROTEASOME 26S SUBUNIT, NON-ATPase, 7; PSMD7", "OMIM:158030": "ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AJ9", "OMIM:158040": "ANTIGEN DEFINED BY MONOCLONAL ANTIBODY T87", "OMIM:158050": "MONKEY RED BLOOD CELL RECEPTOR; MRBC", "OMIM:158070": "SOLUTE CARRIER FAMILY 3 (ACTIVATOR OF DIBASIC AND NEUTRAL AMINO ACID TRANSPORT), MEMBER 2; SLC3A2", "OMIM:158105": "CHEMOKINE, CC MOTIF, LIGAND 2; CCL2", "OMIM:158106": "CHEMOKINE, CC MOTIF, LIGAND 7; CCL7", "OMIM:158120": "MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14", "OMIM:158270": "MOTILIN; MLN", "OMIM:158340": "MUCIN 1, CELL SURFACE ASSOCIATED; MUC1", "OMIM:158343": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1", "OMIM:158370": "MUCIN 2, INTESTINAL; MUC2", "OMIM:158371": "MUCIN 3A, INTESTINAL; MUC3A", "OMIM:158372": "MUCIN 4, TRACHEOBRONCHIAL; MUC4", "OMIM:158373": "MUCIN 5, SUBTYPES A AND C, TRACHEOBRONCHIAL; MUC5AC", "OMIM:158374": "MUCIN 6, GASTRIC; MUC6", "OMIM:158375": "MUCIN 7, SALIVARY; MUC7", "OMIM:158378": "SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2", "OMIM:158380": "ECOTROPIC VIRAL INTEGRATION SITE 2A; EVI2A", "OMIM:158381": "ECOTROPIC VIRAL INTEGRATION SITE 2B; EVI2B", "OMIM:159100": "MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE", "OMIM:159300": "MUSICAL PERFECT PITCH", "OMIM:159350": "MCC REGULATOR OF WNT SIGNALING PATHWAY; MCC", "OMIM:159405": "MYB PROTOONCOGENE LIKE 1; MYBL1", "OMIM:159410": "MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS", "OMIM:159420": "MYDRIASIS, CONGENITAL", "OMIM:159430": "MYELIN BASIC PROTEIN; MBP", "OMIM:159440": "MYELIN PROTEIN ZERO; MPZ", "OMIM:159460": "MYELIN-ASSOCIATED GLYCOPROTEIN; MAG", "OMIM:159465": "MYELIN-OLIGODENDROCYTE GLYCOPROTEIN; MOG", "OMIM:159530": "MPL PROTOONCOGENE, THROMBOPOIETIN RECEPTOR; MPL", "OMIM:159540": "LEUKEMIA-INHIBITORY FACTOR; LIF", "OMIM:159552": "MYELOID CELL LEUKEMIA SEQUENCE 1; MCL1", "OMIM:159553": "MYELOID CELL NUCLEAR DIFFERENTIATION ANTIGEN; MNDA", "OMIM:159555": "LYSINE-SPECIFIC METHYLTRANSFERASE 2A; KMT2A", "OMIM:159556": "MLLT1 SUPER ELONGATION COMPLEX SUBUNIT; MLLT1", "OMIM:159557": "ALF TRANSCRIPTION ELONGATION FACTOR 1; AFF1", "OMIM:159558": "MLLT3 SUPER ELONGATION COMPLEX SUBUNIT; MLLT3", "OMIM:159559": "AFADIN; AFDN", "OMIM:159590": "CD33 ANTIGEN; CD33", "OMIM:159970": "MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1", "OMIM:159980": "MYOGENIN; MYOG", "OMIM:159990": "MYOGENIC FACTOR 5; MYF5", "OMIM:159991": "MYOGENIC FACTOR 6; MYF6", "OMIM:160000": "MYOGLOBIN; MB", "OMIM:160710": "MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6", "OMIM:160720": "MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC; MYH3", "OMIM:160730": "MYOSIN, HEAVY CHAIN 1, SKELETAL MUSCLE, ADULT; MYH1", "OMIM:160740": "MYOSIN, HEAVY CHAIN 2, SKELETAL MUSCLE, ADULT; MYH2", "OMIM:160741": "MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL; MYH8", "OMIM:160742": "MYOSIN, HEAVY CHAIN 4, SKELETAL MUSCLE; MYH4", "OMIM:160745": "MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE; MYH11", "OMIM:160760": "MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7", "OMIM:160770": "MYOSIN, LIGHT CHAIN 4, ALKALI, ATRIAL, EMBRYONIC; MYL4", "OMIM:160775": "MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9", "OMIM:160776": "MYOSIN, HEAVY CHAIN 10, NONMUSCLE; MYH10", "OMIM:160777": "MYOSIN VA; MYO5A", "OMIM:160780": "MYOSIN, LIGHT POLYPEPTIDE 1, ALKALI, SKELETAL, FAST; MYL1", "OMIM:160781": "MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2", "OMIM:160782": "MYOSIN, LIGHT CHAIN 5, REGULATORY; MYL5", "OMIM:160790": "MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3", "OMIM:160793": "MYOSIN-BINDING PROTEIN C, FAST TYPE; MYBPC2", "OMIM:160794": "MYOSIN-BINDING PROTEIN C, SLOW TYPE; MYBPC1", "OMIM:160795": "MYOSIN-BINDING PROTEIN H; MYBPH", "OMIM:160990": "MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS", "OMIM:160993": "N-MYRISTOYLTRANSFERASE 1; NMT1", "OMIM:160994": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN M; HNRNPM", "OMIM:160995": "ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT1", "OMIM:160998": "NAD(P)H DEHYDROGENASE, QUINONE 2; NQO2", "OMIM:161015": "NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1; NDUFV1", "OMIM:161070": "NAIL HIGH-SULFUR PROTEIN", "OMIM:161080": "NAIL LOW-SULFUR PROTEIN", "OMIM:161100": "NAILBEDS, PIGMENTATION OF", "OMIM:161555": "KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 1; KLRC1", "OMIM:161560": "INTERLEUKIN 12A; IL12A", "OMIM:161561": "INTERLEUKIN 12B; IL12B", "OMIM:161565": "NATURAL KILLER CELL TRIGGERING RECEPTOR; NKTR", "OMIM:161600": "NAVICULAR BONE, ACCESSORY", "OMIM:161650": "NEBULIN; NEB", "OMIM:162010": "NERVE GROWTH FACTOR RECEPTOR; NGFR", "OMIM:162030": "NERVE GROWTH FACTOR; NGF", "OMIM:162060": "GROWTH-ASSOCIATED PROTEIN 43; GAP43", "OMIM:162080": "NEURAL RETINA LEUCINE ZIPPER; NRL", "OMIM:162095": "PLEIOTROPHIN; PTN", "OMIM:162096": "MIDKINE; MDK", "OMIM:162150": "PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1", "OMIM:162151": "PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 2; PCSK2", "OMIM:162230": "NEUROFILAMENT PROTEIN, HEAVY POLYPEPTIDE; NEFH", "OMIM:162240": "NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME", "OMIM:162250": "NEUROFILAMENT PROTEIN, MEDIUM POLYPEPTIDE; NEFM", "OMIM:162270": "NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4", "OMIM:162280": "NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL", "OMIM:162320": "TACHYKININ 1; TAC1", "OMIM:162321": "TACHYKININ RECEPTOR 2; TACR2", "OMIM:162323": "TACHYKININ RECEPTOR 1; TACR1", "OMIM:162330": "TACHYKININ 3; TAC3", "OMIM:162332": "TACHYKININ RECEPTOR 3; TACR3", "OMIM:162340": "NEUROMEDIN B; NMB", "OMIM:162341": "NEUROMEDIN B RECEPTOR; NMBR", "OMIM:162360": "NESCIENT HELIX LOOP HELIX 1; NHLH1", "OMIM:162361": "NESCIENT HELIX LOOP HELIX 2; NHLH2", "OMIM:162380": "NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE", "OMIM:162600": "NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE", "OMIM:162640": "NEUROPEPTIDE Y; NPY", "OMIM:162641": "NEUROPEPTIDE Y RECEPTOR Y1; NPY1R", "OMIM:162642": "NEUROPEPTIDE Y RECEPTOR Y2; NPY2R", "OMIM:162643": "CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4", "OMIM:162650": "NEUROTENSIN; NTS", "OMIM:162651": "NEUROTENSIN RECEPTOR 1; NTSR1", "OMIM:162660": "NEUROTROPHIN 3; NTF3", "OMIM:162662": "NEUROTROPHIN 4; NTF4", "OMIM:162815": "NEUTROPHIL AZUROCIDIN; NAZC", "OMIM:162860": "CD177 ANTIGEN; CD177", "OMIM:162880": "NEUTROPHIL-SPECIFIC ANTIGEN: ND1", "OMIM:162890": "NEUTROPHIL-SPECIFIC ANTIGEN: NE1", "OMIM:163050": "NEVUS ANEMICUS", "OMIM:163260": "NUCLEAR FACTOR ERYTHROID 2-LIKE 1; NFE2L1", "OMIM:163729": "NITRIC OXIDE SYNTHASE 3; NOS3", "OMIM:163730": "NITRIC OXIDE SYNTHASE 2; NOS2", "OMIM:163731": "NITRIC OXIDE SYNTHASE 1; NOS1", "OMIM:163890": "SYNUCLEIN, ALPHA; SNCA", "OMIM:163900": "REMOVED FROM DATABASE", "OMIM:163905": "HIGH MOBILITY GROUP BOX 1; HMGB1", "OMIM:163906": "HIGH MOBILITY GROUP BOX 2; HMGB2", "OMIM:163910": "HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2; HMGN2", "OMIM:163920": "HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 1; HMGN1", "OMIM:163970": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE), MEMBER 2; SLC6A2", "OMIM:163980": "CEA CELL ADHESION MOLECULE 6; CEACAM6", "OMIM:164000": "NOSE, ANOMALOUS SHAPE OF", "OMIM:164005": "NUCLEAR FACTOR I/X; NFIX", "OMIM:164008": "NUCLEAR FACTOR KAPPA-B INHIBITOR, ALPHA; NFKBIA", "OMIM:164009": "NUCLEAR MITOTIC APPARATUS PROTEIN 1; NUMA1", "OMIM:164010": "CHARGED MULTIVESICULAR BODY PROTEIN 1A; CHMP1A", "OMIM:164011": "NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1", "OMIM:164012": "NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2", "OMIM:164013": "NUCLEAR FACTOR RELATED TO KAPPA-B BINDING PROTEIN; NFRKB", "OMIM:164014": "RELA PROTOONCOGENE, NFKB SUBUNIT; RELA", "OMIM:164015": "MATRIN 3; MATR3", "OMIM:164017": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRNPA1", "OMIM:164020": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN C; HNRNPC", "OMIM:164031": "NUCLEOLAR PROTEIN NOP2; NOP2", "OMIM:164035": "NUCLEOLIN; NCL", "OMIM:164040": "NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1", "OMIM:164050": "PURINE NUCLEOSIDE PHOSPHORYLASE; PNP", "OMIM:164060": "NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 1; NAP1L1", "OMIM:164160": "LEPTIN; LEP", "OMIM:164170": "NYSTAGMUS, VOLUNTARY", "OMIM:164175": "POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 1; POU2F1", "OMIM:164176": "POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 2; POU2F2", "OMIM:164177": "POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1", "OMIM:164190": "OCULAR DOMINANCE", "OMIM:164320": "ODORANT-BINDING PROTEIN 2A; OBP2A", "OMIM:164330": "ODONTOMA-DYSPHAGIA SYNDROME", "OMIM:164340": "OLFACTORY MARKER PROTEIN; OMP", "OMIM:164342": "OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2", "OMIM:164343": "EARLY B-CELL FACTOR 1; EBF1", "OMIM:164345": "OLIGODENDROCYTE-MYELIN GLYCOPROTEIN; OMG", "OMIM:164350": "2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 1; OAS1", "OMIM:164360": "ATP SYNTHASE F1, SUBUNIT ALPHA; ATP5F1A", "OMIM:164680": "ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR", "OMIM:164690": "ABL PROTOONCOGENE 2, NONRECEPTOR TYROSINE KINASE; ABL2", "OMIM:164710": "REMOVED FROM DATABASE", "OMIM:164720": "ETS PROTOONCOGENE 1, TRANSCRIPTION FACTOR; ETS1", "OMIM:164730": "AKT SERINE/THREONINE KINASE 1; AKT1", "OMIM:164731": "AKT SERINE/THREONINE KINASE 2; AKT2", "OMIM:164740": "ETS PROTOONCOGENE 2, TRANSCRIPTION FACTOR; ETS2", "OMIM:164755": "VIRAL INTEGRATION SITE 1; VIS1", "OMIM:164757": "B-RAF PROTOONCOGENE, SERINE/THREONINE KINASE; BRAF", "OMIM:164760": "RAF1 PROTOONCOGENE, SERINE/THREONINE KINASE ; RAF1", "OMIM:164761": "RET PROTOONCOGENE; RET", "OMIM:164762": "CRK PROTOONCOGENE, ADAPTOR PROTEIN; CRK", "OMIM:164765": "CORTACTIN; CTTN", "OMIM:164770": "COLONY-STIMULATING FACTOR 1 RECEPTOR; CSF1R", "OMIM:164772": "FOSB PROTOONCOGENE, AP1 TRANSCRIPTION FACTOR SUBUNIT; FOSB", "OMIM:164780": "SKI PROTOONCOGENE; SKI", "OMIM:164785": "MDM2 PROTOONCOGENE; MDM2", "OMIM:164790": "NRAS PROTOONCOGENE, GTPase; NRAS", "OMIM:164795": "ONCOMODULIN; OCM", "OMIM:164810": "FOS PROTOONCOGENE, AP1 TRANSCRIPTION FACTOR SUBUNIT; FOS", "OMIM:164820": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1", "OMIM:164830": "REMOVED FROM DATABASE", "OMIM:164831": "BMI1 PROTOONCOGENE, POLYCOMB RING FINGER; BMI1", "OMIM:164840": "MYCN PROTOONCOGENE, bHLH TRANSCRIPTION FACTOR; MYCN", "OMIM:164850": "MYCL PROTOONCOGENE, bHLH TRANSCRIPTION FACTOR; MYCL", "OMIM:164860": "MET PROTOONCOGENE, RECEPTOR TYROSINE KINASE; MET", "OMIM:164865": "V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG-LIKE 1; MYCLK1", "OMIM:164870": "ERB-B2 RECEPTOR TYROSINE KINASE 2; ERBB2", "OMIM:164873": "ETS VARIANT TRANSCRIPTION FACTOR 3; ETV3", "OMIM:164874": "FORKHEAD BOX G1; FOXG1", "OMIM:164875": "VAV GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; VAV1", "OMIM:164880": "V-YES-1 YAMAGUCHI SARCOMA VIRAL ONCOGENE; YES1", "OMIM:164910": "REL PROTOONCOGENE, NF-KAPPA-B SUBUNIT; REL", "OMIM:164920": "KIT PROTOONCOGENE, RECEPTOR TYROSINE KINASE; KIT", "OMIM:164940": "FGR PROTOONCOGENE, SRC FAMILY TYROSINE KINASE; FGR", "OMIM:164950": "FIBROBLAST GROWTH FACTOR 3; FGF3", "OMIM:164951": "NOTCH RECEPTOR 4; NOTCH4", "OMIM:164953": "ONCOGENE LIPOSARCOMA; LPSA", "OMIM:164958": "CELLULAR COMMUNICATION NETWORK FACTOR 3; CCN3", "OMIM:164960": "ONCOGENE PIM 1; PIM1", "OMIM:164975": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A", "OMIM:164980": "FIBROBLAST GROWTH FACTOR 4; FGF4", "OMIM:165020": "ROS PROTOONCOGENE 1, RECEPTOR TYROSINE KINASE; ROS1", "OMIM:165040": "RAS-ASSOCIATED PROTEIN RAB8A; RAB8A", "OMIM:165060": "tRNA SELENOCYSTEINE (ANTICODON TCA) 1-1; TRU-TCA1-1", "OMIM:165070": "FMS-RELATED TYROSINE KINASE 1; FLT1", "OMIM:165080": "ETS TRANSCRIPTION FACTOR ERG; ERG", "OMIM:165090": "RELATED RAS VIRAL ONCOGENE HOMOLOG; RRAS", "OMIM:165095": "ONCOSTATIN M; OSM", "OMIM:165110": "S13 AVIAN ERYTHROBLASTOSIS ONCOGENE HOMOLOG; SEA", "OMIM:165120": "LYN PROTOONCOGENE, SRC FAMILY TYROSINE KINASE; LYN", "OMIM:165140": "ONCOGENE PVT1; PVT1", "OMIM:165160": "JUN PROTOONCOGENE, AP-1 TRANSCRIPTION FACTOR SUBUNIT; JUN", "OMIM:165161": "ONCOGENE JUN-B; JUNB", "OMIM:165162": "ONCOGENE JUN-D; JUND", "OMIM:165170": "SPI1 PROTOONCOGENE; SPI1", "OMIM:165180": "MAS1 ONCOGENE; MAS1", "OMIM:165190": "FIBROBLAST GROWTH FACTOR 5; FGF5", "OMIM:165195": "OPIOID RECEPTOR, DELTA-1; OPRD1", "OMIM:165196": "OPIOID RECEPTOR, KAPPA-1; OPRK1", "OMIM:165200": "OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS", "OMIM:165210": "ONCOGENE BMYC; BMYC", "OMIM:165215": "MDS1 AND EVI1 COMPLEX LOCUS; MECOM", "OMIM:165220": "GLI FAMILY ZINC FINGER 1; GLI1", "OMIM:165230": "GLI-KRUPPEL FAMILY MEMBER 2; GLI2", "OMIM:165240": "GLI-KRUPPEL FAMILY MEMBER 3; GLI3", "OMIM:165250": "ZINC FINGER PROTEIN 875; ZNF875", "OMIM:165260": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 22; ZSCAN22", "OMIM:165270": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 48; ZBTB48", "OMIM:165280": "GLI-KRUPPEL FAMILY MEMBER 4; GLI4", "OMIM:165290": "ONCOGENE RMYC; RMYC", "OMIM:165320": "LIVER CANCER ONCOGENE; LCO", "OMIM:165330": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3", "OMIM:165340": "SKI-LIKE; SKIL", "OMIM:165360": "CBL PROTOONCOGENE; CBL", "OMIM:165370": "RAS HOMOLOG GENE FAMILY, MEMBER B; RHOB", "OMIM:165380": "RAS HOMOLOG GENE FAMILY, MEMBER C; RHOC", "OMIM:165390": "RAS HOMOLOG GENE FAMILY, MEMBER A; RHOA", "OMIM:165640": "ORNITHINE DECARBOXYLASE 1; ODC1", "OMIM:166230": "OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES", "OMIM:166490": "SECRETED PHOSPHOPROTEIN 1; SPP1", "OMIM:166945": "NBR1 AUTOPHAGY CARGO RECEPTOR; NBR1", "OMIM:167040": "OXYSTEROL-BINDING PROTEIN; OSBP", "OMIM:167050": "OXYTOCIN; OXT", "OMIM:167055": "OXYTOCIN RECEPTOR; OXTR", "OMIM:167405": "PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 6; PCSK6", "OMIM:167409": "PAIRED BOX GENE 2; PAX2", "OMIM:167410": "PAIRED BOX GENE 7; PAX7", "OMIM:167411": "PAIRED BOX GENE 1; PAX1", "OMIM:167413": "PAIRED BOX GENE 4; PAX4", "OMIM:167414": "PAIRED BOX GENE 5; PAX5", "OMIM:167415": "PAIRED BOX GENE 8; PAX8", "OMIM:167416": "PAIRED BOX GENE 9; PAX9", "OMIM:167420": "PAIRED-RELATED HOMEOBOX GENE 1; PRRX1", "OMIM:167700": "PALMOMENTAL REFLEX", "OMIM:167755": "PANCREAS, DORSAL, AGENESIS OF", "OMIM:167770": "REGENERATING ISLET-DERIVED 1-ALPHA; REG1A", "OMIM:167771": "REGENERATING ISLET-DERIVED 1-BETA; REG1B", "OMIM:167780": "PANCREATIC POLYPEPTIDE/PANCREATIC ICOSAPEPTIDE; PPY", "OMIM:167790": "SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1", "OMIM:167805": "REGENERATING ISLET-DERIVED 3-ALPHA; REG3A", "OMIM:167850": "PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE", "OMIM:167959": "HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1; HPV18I1", "OMIM:167960": "HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2; HPV18I2", "OMIM:168100": "PARALYSIS AGITANS, JUVENILE, OF HUNT", "OMIM:168360": "ELAV-LIKE RNA-BINDING PROTEIN 4; ELAVL4", "OMIM:168440": "PARATHYMOSIN; PTMS", "OMIM:168450": "PARATHYROID HORMONE; PTH", "OMIM:168461": "CYCLIN D1; CCND1", "OMIM:168468": "PARATHYROID HORMONE 1 RECEPTOR; PTH1R", "OMIM:168470": "PARATHYROID HORMONE-LIKE HORMONE; PTHLH", "OMIM:168710": "PAROTID PROLINE-RICH SALIVARY PROTEIN Pc", "OMIM:168730": "PROLINE-RICH PROTEIN, HaeIII SUBFAMILY, 1; PRH1", "OMIM:168790": "PROLINE-RICH PROTEIN, HaeIII SUBFAMILY, 2; PRH2", "OMIM:168810": "PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 2; PRB2", "OMIM:168830": "PASSOVOY FACTOR DEFECT", "OMIM:168840": "PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 3; PRB3", "OMIM:168885": "NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE; NOC2", "OMIM:168890": "PARVALBUMIN; PVALB", "OMIM:169170": "PATTERSON PSEUDOLEPRECHAUNISM SYNDROME", "OMIM:169190": "CYCLIN-DEPENDENT KINASE 18; CDK18", "OMIM:169300": "PECTUS EXCAVATUM", "OMIM:169615": "DESMOGLEIN 3; DSG3", "OMIM:169700": "PEPSINOGEN; PG", "OMIM:169710": "PEPSINOGEN 3, GROUP I; PGA3", "OMIM:169720": "PEPSINOGEN 4, GROUP I; PGA4", "OMIM:169730": "PEPSINOGEN 5, GROUP I; PGA5", "OMIM:169740": "PROGASTRICSIN; PGC", "OMIM:169800": "CARNOSINE DIPEPTIDASE 2; CNDP2", "OMIM:169900": "PEPTIDASE B; PEPB", "OMIM:170000": "PEPTIDASE C; PEPC", "OMIM:170200": "PEPTIDASE E; PEPE", "OMIM:170250": "LEUCINE AMINOPEPTIDASE 3; LAP3", "OMIM:170260": "TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 1; TAP1", "OMIM:170261": "TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 2; TAP2", "OMIM:170270": "PEPTIDYLGLYCINE ALPHA-AMIDATING MONOOXYGENASE; PAM", "OMIM:170280": "PERFORIN 1; PRF1", "OMIM:170285": "NUCLEOPORIN, 85-KD; NUP85", "OMIM:170290": "PERILIPIN 1; PLIN1", "OMIM:170710": "PERIPHERIN; PRPH", "OMIM:170715": "PERIPHERAL MYELIN PROTEIN 2; PMP2", "OMIM:170950": "REMOVED FROM DATABASE", "OMIM:170990": "PEROXIDASE, SALIVARY; SAPX", "OMIM:170993": "PEROXISOME BIOGENESIS FACTOR 2; PEX2", "OMIM:170995": "ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3", "OMIM:170998": "PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA", "OMIM:171050": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1", "OMIM:171060": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4", "OMIM:171100": "PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN", "OMIM:171150": "SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 1; SULT1A1", "OMIM:171190": "PHENYLETHANOLAMINE N-METHYLTRANSFERASE; PNMT", "OMIM:171200": "THIOUREA TASTING; THIOT", "OMIM:171490": "PHOSDUCIN; PDC", "OMIM:171500": "ACID PHOSPHATASE 1, SOLUBLE; ACP1", "OMIM:171640": "PHOSPHATASE, ACID, TYPE 5, TARTRATE-RESISTANT; ACP5", "OMIM:171650": "ACID PHOSPHATASE 2, LYSOSOMAL; ACP2", "OMIM:171660": "PHOSPHATASE, ACID, OF TISSUES", "OMIM:171700": "REMOVED FROM DATABASE", "OMIM:171720": "ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "OMIM:171740": "ALKALINE PHOSPHATASE, INTESTINAL; ALPI", "OMIM:171750": "ALKALINE PHOSPHATASE, INTESTINAL, FETAL FORM", "OMIM:171760": "ALKALINE PHOSPHATASE, LIVER; ALPL", "OMIM:171790": "PHOSPHATASE, PROSTATE-SPECIFIC ACID; ACPP", "OMIM:171800": "ALKALINE PHOSPHATASE, PLACENTAL; ALPP", "OMIM:171810": "ALKALINE PHOSPHATASE, PLACENTAL-LIKE 2; ALPPL2", "OMIM:171820": "PHOSPHATASE, SALIVARY ACID, A; SACP; ACPS", "OMIM:171830": "PHOSPHATASE, SALIVARY ACID, B", "OMIM:171833": "PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 1; PIK3R1", "OMIM:171834": "PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA", "OMIM:171835": "6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 2; PFKFB2", "OMIM:171840": "PHOSPHOFRUCTOKINASE, PLATELET TYPE; PFKP", "OMIM:171860": "PHOSPHOFRUCTOKINASE, LIVER TYPE; PFKL", "OMIM:171885": "PHOSPHODIESTERASE 7A; PDE7A", "OMIM:171890": "PHOSPHODIESTERASE 1A; PDE1A", "OMIM:171891": "PHOSPHODIESTERASE 1B; PDE1B", "OMIM:171900": "PHOSPHOGLUCOMUTASE 1; PGM1", "OMIM:172000": "PHOSPHOGLUCOMUTASE 2; PGM2", "OMIM:172100": "PHOSPHOGLUCOMUTASE 3; PGM3", "OMIM:172110": "PHOSPHOGLUCOMUTASE 4", "OMIM:172200": "6-PHOSPHOGLUCONATE DEHYDROGENASE; PGD", "OMIM:172250": "PHOSPHOGLYCERATE MUTASE 1; PGAM1", "OMIM:172270": "PHOSPHOGLYCERATE KINASE 2; PGK2", "OMIM:172280": "PHOSPHOGLYCOLATE PHOSPHATASE; PGP", "OMIM:172290": "PHOSPHOGLYCOPROTEIN 1; PGP1", "OMIM:172400": "GLUCOSE-6-PHOSPHATE ISOMERASE; GPI", "OMIM:172405": "PHOSPHOLAMBAN; PLN", "OMIM:172410": "PHOSPHOLIPASE A2, GROUP IB; PLA2G1B", "OMIM:172411": "PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A", "OMIM:172420": "PHOSPHOLIPASE C, GAMMA-1; PLCG1", "OMIM:172425": "PHOSPHOLIPID TRANSFER PROTEIN; PLTP", "OMIM:172430": "ENOLASE 1; ENO1", "OMIM:172439": "PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE; PAICS", "OMIM:172450": "PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; PPAT", "OMIM:172460": "METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1", "OMIM:172470": "PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1; PHKG1", "OMIM:172471": "PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2", "OMIM:172480": "PHOSPHOSERINE PHOSPHATASE; PSPH", "OMIM:172490": "PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB", "OMIM:172500": "PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION", "OMIM:172860": "SERPIN PEPTIDASE INHIBITOR, CLADE F, MEMBER 1; SERPINF1", "OMIM:173110": "POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1", "OMIM:173120": "SECRETORY GRANULE NEUROENDOCRINE PROTEIN 1; SGNE1", "OMIM:173310": "PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP", "OMIM:173320": "RIBONUCLEASE/ANGIOGENIN INHIBITOR 1; RNH1", "OMIM:173321": "SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 6; SERPINB6", "OMIM:173325": "JUNCTION PLAKOGLOBIN; JUP", "OMIM:173335": "ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1", "OMIM:173340": "PLASMINOGEN-LIKE B1; PLGLB1", "OMIM:173350": "PLASMINOGEN; PLG", "OMIM:173360": "SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 1; SERPINE1", "OMIM:173370": "PLASMINOGEN ACTIVATOR, TISSUE; PLAT", "OMIM:173390": "SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 2; SERPINB2", "OMIM:173391": "PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR", "OMIM:173393": "PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR", "OMIM:173395": "PLATELET ADENYLATE CYCLASE ACTIVITY", "OMIM:173400": "PLATELET AGGREGATION, SPONTANEOUS", "OMIM:173410": "PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB", "OMIM:173430": "PLATELET-DERIVED GROWTH FACTOR, ALPHA POLYPEPTIDE; PDGFA", "OMIM:173445": "PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1; PECAM1", "OMIM:173460": "PLATELET FACTOR 4; PF4", "OMIM:173461": "PLATELET FACTOR 4, VARIANT 1; PF4V1", "OMIM:173470": "INTEGRIN, BETA-3; ITGB3", "OMIM:173490": "PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA", "OMIM:173500": "PLATELET GROUPS--Ko SYSTEM; HPA-2", "OMIM:173510": "CD36 ANTIGEN; CD36", "OMIM:173511": "GLYCOPROTEIN V, PLATELET; GP5", "OMIM:173515": "GLYCOPROTEIN IX, PLATELET; GP9", "OMIM:173540": "PLATELET GROUPS--Pl(E) SYSTEM", "OMIM:173560": "PLATELET MEMBRANE FLUIDITY; PMF", "OMIM:173570": "PLECKSTRIN; PLEK", "OMIM:173610": "SELECTIN P; SELP", "OMIM:173850": "POLIOVIRUS RECEPTOR; PVR", "OMIM:173870": "POLY(ADP-RIBOSE) POLYMERASE 1; PARP1", "OMIM:173880": "POLYMERIC IMMUNOGLOBULIN RECEPTOR; PIGR", "OMIM:173910": "POLYCYSTIN 2; PKD2", "OMIM:174750": "POLYKARYOCYTOSIS INDUCER; FUSE", "OMIM:174760": "POLYMERASE, DNA, BETA; POLB", "OMIM:174761": "POLYMERASE (DNA-DIRECTED), DELTA 1, CATALYTIC SUBUNIT; POLD1", "OMIM:174762": "POLYMERASE, DNA, EPSILON; POLE", "OMIM:174763": "POLYMERASE, DNA, GAMMA; POLG", "OMIM:174880": "LYMPHOCYTE CYTOSOL POLYPEPTIDE, 100-KD", "OMIM:175690": "POLYSYNDACTYLY, CROSSED", "OMIM:176256": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 2; KCNC2", "OMIM:176257": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 6; KCNA6", "OMIM:176258": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 1; KCNC1", "OMIM:176260": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1; KCNA1", "OMIM:176261": "POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; KCNE1", "OMIM:176262": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 2; KCNA2", "OMIM:176263": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 3; KCNA3", "OMIM:176264": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 3; KCNC3", "OMIM:176265": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 4; KCNC4", "OMIM:176266": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 4; KCNA4", "OMIM:176267": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 5; KCNA5", "OMIM:176268": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 7; KCNA7", "OMIM:176290": "DELTA-LIKE NONCANONICAL NOTCH LIGAND 1; DLK1", "OMIM:176300": "TRANSTHYRETIN; TTR", "OMIM:176310": "PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1", "OMIM:176311": "PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 2; PBX2", "OMIM:176312": "PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 3; PBX3", "OMIM:176385": "PAPPALYSIN 1; PAPPA", "OMIM:176390": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1; PSG1", "OMIM:176391": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 2; PSG2", "OMIM:176392": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 3; PSG3", "OMIM:176393": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 4; PSG4", "OMIM:176394": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 5; PSG5", "OMIM:176395": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 6; PSG6", "OMIM:176396": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 7; PSG7", "OMIM:176397": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 8; PSG8", "OMIM:176398": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 9; PSG9", "OMIM:176399": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 10, PSEUDOGENE; PSG10P", "OMIM:176401": "PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 11; PSG11", "OMIM:176420": "PREGNANCY ZONE PROTEIN; PZP", "OMIM:176590": "PROFILIN 2; PFN2", "OMIM:176610": "PROFILIN 1; PFN1", "OMIM:176620": "PRIAPISM, FAMILIAL IDIOPATHIC", "OMIM:176635": "PRIMASE POLYPEPTIDE 1; PRIM1", "OMIM:176636": "PRIMASE POLYPEPTIDE 2A; PRIM2A", "OMIM:176640": "PRION PROTEIN; PRNP", "OMIM:176705": "PROHIBITIN; PHB", "OMIM:176710": "PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 1; P4HA1", "OMIM:176720": "PROLACTIN-INDUCIBLE PROTEIN; PIP", "OMIM:176730": "INSULIN; INS", "OMIM:176740": "PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA", "OMIM:176741": "MARKER OF PROLIFERATION KI67; MKI67", "OMIM:176760": "PROLACTIN; PRL", "OMIM:176761": "PROLACTIN RECEPTOR; PRLR", "OMIM:176763": "PEROXIREDOXIN 1; PRDX1", "OMIM:176770": "PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF; PROA", "OMIM:176785": "PROLYLCARBOXYPEPTIDASE; PRCP", "OMIM:176790": "PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB", "OMIM:176793": "PRO-MELANIN-CONCENTRATING HORMONE-LIKE 1, PSEUDOGENE; PMCHL1", "OMIM:176794": "PRO-MELANIN-CONCENTRATING HORMONE-LIKE 2, PSEUDOGENE; PMCHL2", "OMIM:176795": "PRO-MELANIN-CONCENTRATING HORMONE; PMCH", "OMIM:176797": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16", "OMIM:176801": "PROSAPOSIN; PSAP", "OMIM:176802": "PROSTAGLANDIN E RECEPTOR 1, EP1 SUBTYPE; PTGER1", "OMIM:176803": "PROSTAGLANDIN D2 SYNTHASE, BRAIN; PTGDS", "OMIM:176804": "PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2", "OMIM:176805": "PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1; PTGS1", "OMIM:176806": "PROSTAGLANDIN E RECEPTOR 3, EP3 SUBTYPE; PTGER3", "OMIM:176820": "KALLIKREIN-RELATED PEPTIDASE 3; KLK3", "OMIM:176830": "PROOPIOMELANOCORTIN; POMC", "OMIM:176842": "PROTEASOME SUBUNIT, ALPHA-TYPE, 2; PSMA2", "OMIM:176843": "PROTEASOME SUBUNIT, ALPHA-TYPE, 3; PSMA3", "OMIM:176844": "PROTEASOME SUBUNIT, ALPHA-TYPE, 5; PSMA5", "OMIM:176845": "PROTEASOME COMPONENT 8; PSC8", "OMIM:176846": "PROTEASOME SUBUNIT, ALPHA-TYPE, 4; PSMA4", "OMIM:176847": "PROTEASOME 20S SUBUNIT, BETA-TYPE, 10; PSMB10", "OMIM:176851": "PROTEIN-L-ISOASPARTATE (D-ASPARTATE) O-METHYLTRANSFERASE; PCMT1", "OMIM:176870": "ALPHA-1 MICROGLOBULIN/BIKUNIN PRECURSOR; AMBP", "OMIM:176871": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 2; EIF2AK2", "OMIM:176872": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1", "OMIM:176873": "CYCLIN-DEPENDENT KINASE 11B; CDK11B", "OMIM:176875": "PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA", "OMIM:176876": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11", "OMIM:176877": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 3; PTPN3", "OMIM:176878": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 4; PTPN4", "OMIM:176879": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 5; PTPN5", "OMIM:176880": "PROTEIN S; PROS1", "OMIM:176882": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, BETA; PTPRB", "OMIM:176883": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6", "OMIM:176884": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ALPHA; PTPRA", "OMIM:176885": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1", "OMIM:176886": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG", "OMIM:176887": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 2; PTPN2", "OMIM:176888": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, MU; PTPRM", "OMIM:176889": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 7; PTPN7", "OMIM:176891": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1; PTPRZ1", "OMIM:176892": "PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, BETA; PRKACB", "OMIM:176893": "PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, GAMMA; PRKACG", "OMIM:176894": "PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1", "OMIM:176895": "PROTEIN Z; PROZ", "OMIM:176900": "PROTEOLYTIC CAPACITY OF PLASMA", "OMIM:176910": "PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A", "OMIM:176911": "PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, BETA; PRKAR1B", "OMIM:176912": "PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, BETA; PRKAR2B", "OMIM:176914": "PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP1CC", "OMIM:176915": "PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA", "OMIM:176916": "PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, BETA ISOFORM; PPP2CB", "OMIM:176930": "COAGULATION FACTOR II; F2", "OMIM:176940": "S100 CALCIUM-BINDING PROTEIN A1; S100A1", "OMIM:176941": "TYROSINE KINASE 2; TYK2", "OMIM:176942": "FPS/FES-RELATED TYROSINE KINASE; FER", "OMIM:176943": "FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2", "OMIM:176945": "EPHRIN RECEPTOR EphA8; EPHA8", "OMIM:176946": "EPHRIN RECEPTOR EphA2; EPHA2", "OMIM:176947": "ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70", "OMIM:176948": "MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1", "OMIM:176949": "MITOGEN-ACTIVATED PROTEIN KINASE 4; MAPK4", "OMIM:176960": "PROTEIN KINASE C, ALPHA; PRKCA", "OMIM:176970": "PROTEIN KINASE C, BETA; PRKCB", "OMIM:176975": "PROTEIN KINASE C, EPSILON; PRKCE", "OMIM:176977": "PROTEIN KINASE C, DELTA; PRKCD", "OMIM:176980": "PROTEIN KINASE C, GAMMA; PRKCG", "OMIM:176981": "RECEPTOR FOR ACTIVATED PROTEIN KINASE C, 1; RACK1", "OMIM:176982": "PROTEIN KINASE C, ZETA FORM; PRKCZ", "OMIM:176990": "S100 CALCIUM-BINDING PROTEIN, BETA; S100B", "OMIM:176991": "S100 CALCIUM-BINDING PROTEIN A5; S100A5", "OMIM:176992": "S100 CALCIUM-BINDING PROTEIN A3; S100A3", "OMIM:176993": "S100 CALCIUM-BINDING PROTEIN A2; S100A2", "OMIM:177010": "SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 2; SERPINE2", "OMIM:177015": "PROTEIN SERINE KINASE H1; PSKH1", "OMIM:177020": "PROTEINASE 3; PRTN3", "OMIM:177040": "SERGLYCIN; SRGN", "OMIM:177045": "PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9", "OMIM:177046": "PROTEASOME SUBUNIT, BETA-TYPE, 8; PSMB8", "OMIM:177060": "PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH", "OMIM:177061": "MYRISTOYLATED ALANINE-RICH PROTEIN KINASE C SUBSTRATE; MARCKS", "OMIM:177070": "PROTEIN 4.2, ERYTHROCYTIC; EPB42", "OMIM:177075": "MAF bZIP TRANSCRIPTION FACTOR; MAF", "OMIM:177300": "PSEUDOARTHROGRYPOSIS", "OMIM:177400": "BUTYRYLCHOLINESTERASE; BCHE", "OMIM:177600": "PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF", "OMIM:177750": "PSEUDOMONILETHRIX", "OMIM:177800": "PSEUDOPAPILLEDEMA", "OMIM:177860": "REMOVED FROM DATABASE", "OMIM:178610": "PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL", "OMIM:178620": "SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC", "OMIM:178630": "SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1", "OMIM:178635": "SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD", "OMIM:178640": "SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB", "OMIM:178642": "SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2", "OMIM:178800": "PUPIL, EGG-SHAPED", "OMIM:178990": "MATRIX METALLOPROTEINASE 7; MMP7", "OMIM:179020": "PYRIDOXAL KINASE; PDXK", "OMIM:179030": "PYROPHOSPHATASE, INORGANIC, 1; PPA1", "OMIM:179035": "PYRROLINE-5-CARBOXYLATE REDUCTASE 1; PYCR1", "OMIM:179050": "PYRUVATE KINASE, MUSCLE; PKM", "OMIM:179060": "PYRUVATE DEHYDROGENASE E1, SUBUNIT BETA; PDHB", "OMIM:179061": "PYRUVATE DEHYDROGENASE E1, SUBUNIT ALPHA-2; PDHA2", "OMIM:179080": "RAB GERANYLGERANYL TRANSFERASE, BETA SUBUNIT; RABGGTB", "OMIM:179095": "UBIQUITIN-CONJUGATING ENZYME E2 B; UBE2B", "OMIM:179410": "RADIXIN; RDX", "OMIM:179450": "RAGWEED SENSITIVITY", "OMIM:179490": "RAS-ASSOCIATED PROTEIN RAB3A; RAB3A", "OMIM:179502": "RAP1, GTPase-GDP DISSOCIATION STIMULATOR 1; RAP1GDS1", "OMIM:179503": "RRAD RAS-RELATED GLYCOLYSIS INHIBITOR AND CALCIUM CHANNEL REGULATOR; RRAD", "OMIM:179505": "RAS HOMOLOG GENE FAMILY, MEMBER G; RHOG", "OMIM:179508": "RAS-ASSOCIATED PROTEIN RAB1; RAB1", "OMIM:179509": "RAS-ASSOCIATED PROTEIN RAB2; RAB2", "OMIM:179510": "RAS-ASSOCIATED PROTEIN RAB3B; RAB3B", "OMIM:179511": "RAS-ASSOCIATED PROTEIN RAB4A; RAB4A", "OMIM:179512": "RAS-ASSOCIATED PROTEIN RAB5A; RAB5A", "OMIM:179513": "RAS-ASSOCIATED PROTEIN RAB6A; RAB6A", "OMIM:179514": "RAS-ASSOCIATED PROTEIN RAB5B; RAB5B", "OMIM:179520": "RAS-RELATED PROTEIN 1A; RAP1A", "OMIM:179530": "RAS-RELATED PROTEIN 1B; RAP1B", "OMIM:179540": "RAS-RELATED PROTEIN 2A; RAP2A", "OMIM:179541": "RAS-RELATED PROTEIN 2B; RAP2B", "OMIM:179550": "RAS-LIKE PROTOONCOGENE A; RALA", "OMIM:179551": "RAS-LIKE PROTOONCOGENE B; RALB", "OMIM:179555": "RAS SUPPRESSOR PROTEIN 1; RSU1", "OMIM:179590": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF", "OMIM:179605": "PERIPHERIN 2; PRPH2", "OMIM:179610": "EPHRIN RECEPTOR EphA1; EPHA1", "OMIM:179611": "EPHRIN RECEPTOR EphA3; EPHA3", "OMIM:179615": "RECOMBINATION-ACTIVATING GENE 1; RAG1", "OMIM:179616": "RECOMBINATION-ACTIVATING GENE 2; RAG2", "OMIM:179617": "RAD51 RECOMBINASE; RAD51", "OMIM:179618": "RECOVERIN; RCVRN", "OMIM:179620": "RAPH BLOOD GROUP SYSTEM", "OMIM:179710": "REGULATOR OF CHROMOSOME CONDENSATION 1; RCC1", "OMIM:179715": "REMOVED FROM DATABASE", "OMIM:179730": "RELAXIN 1; RLN1", "OMIM:179740": "RELAXIN 2; RLN2", "OMIM:179755": "PROLINE-RICH MITOTIC CHECKPOINT CONTROL FACTOR; PRCC", "OMIM:179780": "DIPEPTIDASE 1; DPEP1", "OMIM:179820": "RENIN; REN", "OMIM:179835": "REPLICATION PROTEIN A1, 70-KD; RPA1", "OMIM:179836": "REPLICATION PROTEIN A2, 32-KD; RPA2", "OMIM:179837": "REPLICATION PROTEIN A3, 14-KD; RPA3", "OMIM:179838": "CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 1; CLIP1", "OMIM:179900": "RETINAL APLASIA", "OMIM:180040": "RD3 REGULATOR OF GUCY2D; RD3", "OMIM:180050": "RETINAL DETACHMENT", "OMIM:180069": "RETINOID ISOMEROHYDROLASE RPE65; RPE65", "OMIM:180071": "PHOSPHODIESTERASE 6A; PDE6A", "OMIM:180072": "PHOSPHODIESTERASE 6B; PDE6B", "OMIM:180073": "PHOSPHODIESTERASE 6G; PDE6G", "OMIM:180080": "RETINAL VENOUS BEADING", "OMIM:180090": "RETINALDEHYDE-BINDING PROTEIN 1; RLBP1", "OMIM:180190": "RETINOIC ACID RECEPTOR, GAMMA; RARG", "OMIM:180201": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 4A; ARID4A", "OMIM:180202": "LYSINE DEMETHYLASE 5A; KDM5A", "OMIM:180203": "RB TRANSCRIPTIONAL COREPRESSOR-LIKE 2; RBL2", "OMIM:180220": "RETINOIC ACID RECEPTOR, BETA; RARB", "OMIM:180230": "RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE I; CRABP1", "OMIM:180231": "RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE II; CRABP2", "OMIM:180240": "RETINOIC ACID RECEPTOR, ALPHA; RARA", "OMIM:180245": "RETINOID X RECEPTOR, ALPHA; RXRA", "OMIM:180246": "RETINOID X RECEPTOR, BETA; RXRB", "OMIM:180247": "RETINOID X RECEPTOR, GAMMA; RXRG", "OMIM:180250": "RETINOL-BINDING PROTEIN 4; RBP4", "OMIM:180260": "RETINOL-BINDING PROTEIN 1; RBP1", "OMIM:180270": "RETINOSCHISIS, AUTOSOMAL DOMINANT", "OMIM:180280": "RETINOL-BINDING PROTEIN 2; RBP2", "OMIM:180290": "RETINOL-BINDING PROTEIN 3; RBP3", "OMIM:180297": "RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN; RHAG", "OMIM:180330": "REMOVED FROM DATABASE", "OMIM:180370": "THIOSULFATE SULFURTRANSFERASE; TST", "OMIM:180380": "RHODOPSIN; RHO", "OMIM:180381": "G PROTEIN-COUPLED RECEPTOR KINASE 1; GRK1", "OMIM:180385": "LIM DOMAIN ONLY 2; LMO2", "OMIM:180386": "LIM DOMAIN ONLY 3; LMO3", "OMIM:180390": "RIBONUCLEOTIDE REDUCTASE REGULATORY SUBUNIT M2; RRM2", "OMIM:180410": "RIBONUCLEOTIDE REDUCTASE CATALYTIC SUBUNIT M1; RRM1", "OMIM:180420": "RNA, 5S RIBOSOMAL, GENE CLUSTER 1; RN5S1@", "OMIM:180430": "RIBOSE 5-PHOSPHATE ISOMERASE A; RPIA", "OMIM:180435": "RIBONUCLEASE L; RNASEL", "OMIM:180440": "RIBONUCLEASE A FAMILY, MEMBER 1, PANCREATIC; RNASE1", "OMIM:180450": "RIBOSOMAL RNA 1; RNR1", "OMIM:180451": "RIBOSOMAL RNA 2; RNR2", "OMIM:180452": "RIBOSOMAL RNA 3; RNR3", "OMIM:180453": "RIBOSOMAL RNA 4; RNR4", "OMIM:180454": "RIBOSOMAL RNA 5; RNR5", "OMIM:180460": "RIBOSOMAL PROTEIN S6; RPS6", "OMIM:180463": "RIBOSOMAL PROTEIN S20A; RPS20A", "OMIM:180464": "RIBOSOMAL PROTEIN S20B; RPS20B", "OMIM:180465": "RIBOSOMAL PROTEIN S25; RPS25", "OMIM:180466": "RIBOSOMAL PROTEIN L19; RPL19", "OMIM:180467": "RIBOSOMAL PROTEIN L30; RPL30", "OMIM:180468": "RIBOSOMAL PROTEIN L35A; RPL35A", "OMIM:180469": "RIBOSOMAL PROTEIN L36A-LIKE; RPL36AL", "OMIM:180470": "RIBOPHORIN I; RPN1", "OMIM:180471": "RIBOSOMAL PROTEIN S11; RPS11", "OMIM:180472": "RIBOSOMAL PROTEIN S17; RPS17", "OMIM:180473": "RIBOSOMAL PROTEIN S18; RPS18", "OMIM:180474": "RIBOSOMAL PROTEIN L22; RPL22", "OMIM:180475": "RIBOSOMAL PROTEIN L12; RPL12", "OMIM:180476": "RIBOSOMAL PROTEIN S13; RPS13", "OMIM:180477": "RIBOSOMAL PROTEIN S21; RPS21", "OMIM:180478": "RIBOSOMAL PROTEIN S3a; RPS3A", "OMIM:180479": "RIBOSOMAL PROTEIN L4; RPL4", "OMIM:180480": "RIBULOSE 5-PHOSPHATE 3-EPIMERASE; RPE", "OMIM:180490": "RIBOPHORIN II; RPN2", "OMIM:180510": "RIBOSOMAL PROTEIN LATERAL STALK SUBUNIT P0; RPLP0", "OMIM:180520": "RIBOSOMAL PROTEIN LATERAL STALK SUBUNIT P1; RPLP1", "OMIM:180530": "RIBOSOMAL PROTEIN LATERAL STALK SUBUNIT P2; RPLP2", "OMIM:180535": "RIBOSOMAL PROTEIN S15; RPS15", "OMIM:180610": "REARRANGED LMYC FUSION; RLF", "OMIM:180620": "tRNA INITIATOR METHIONINE (ANTICODON CAT) 2-1; TRX-CAT2-1", "OMIM:180621": "tRNA INITIATOR METHIONINE (ANTICODON CAT) 1-2; TRX-CAT1-2", "OMIM:180630": "DEAD-BOX HELICASE 5; DDX5", "OMIM:180640": "tRNA GLUTAMIC ACID (ANTICODON TTC) 3-1; TRE-TTC3-1", "OMIM:180645": "SMALL NUCLEOLAR RNA, H/ACA BOX, 73A; SNORA73A", "OMIM:180646": "SMALL NUCLEOLAR RNA, H/ACA BOX, 62; SNORA62", "OMIM:180647": "SMALL NUCLEOLAR RNA, H/ACA BOX, 63; SNORA63", "OMIM:180660": "POLYMERASE II, RNA, SUBUNIT A; POLR2A", "OMIM:180661": "POLYMERASE II, RNA, SUBUNIT B; POLR2B", "OMIM:180662": "POLYMERASE II, RNA, SUBUNIT I; POLR2I", "OMIM:180663": "POLYMERASE II, RNA, SUBUNIT C; POLR2C", "OMIM:180664": "POLYMERASE II, RNA, SUBUNIT E; POLR2E", "OMIM:180670": "RNA POLYMERASE III TRANSCRIPTIONAL UNITS", "OMIM:180680": "RNA, U1A SMALL NUCLEAR; RNU1A", "OMIM:180690": "RNA, U2 SMALL NUCLEAR, 1; RNU2-1", "OMIM:180691": "RNA, U5A SMALL NUCLEAR 1; RNU5A-1", "OMIM:180692": "RNA, U6 SMALL NUCLEAR, 1; RNU6-1", "OMIM:180710": "SMALL NUCLEOLAR RNA, C/D BOX, 3A; SNORD3A", "OMIM:180721": "ROD OUTER SEGMENT PROTEIN 1; ROM1", "OMIM:180740": "SMALL NUCLEAR RIBONUCLEOPROTEIN, U1 SUBUNIT, 70-KD; SNRNP70", "OMIM:180901": "RYANODINE RECEPTOR 1; RYR1", "OMIM:180902": "RYANODINE RECEPTOR 2; RYR2", "OMIM:180903": "RYANODINE RECEPTOR 3; RYR3", "OMIM:180910": "SALIVARY ESTERASE", "OMIM:180930": "REMOVED FROM DATABASE", "OMIM:180940": "REMOVED FROM DATABASE", "OMIM:180950": "SALIVARY SUBSTANCE, CLOSTRIDIUM BOTULINUM TYPE", "OMIM:180960": "S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY", "OMIM:180980": "S-ADENOSYLMETHIONINE DECARBOXYLASE; AMD1", "OMIM:180989": "PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 1; PRB1", "OMIM:180990": "PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 4; PRB4", "OMIM:181010": "SALIVARY DUCT CALCULI", "OMIM:181031": "S-ANTIGEN; SAG", "OMIM:181035": "TETRASPANIN 31; TSPAN31", "OMIM:181200": "SC(1) TRAIT OF SALIVA", "OMIM:181300": "SCAPULA, CONTOUR OF VERTEBRAL BORDER OF", "OMIM:181460": "SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO", "OMIM:181590": "SCL/TAL1-INTERRUPTING LOCUS; STIL", "OMIM:181700": "SCLEROCORNEA, AUTOSOMAL DOMINANT", "OMIM:182090": "SIMIAN SARCOMA-ASSOCIATED VIRUS-1/GIBBON APE LEUKEMIA VIRUS; SSAV1", "OMIM:182098": "SECRETIN RECEPTOR; SCTR", "OMIM:182099": "SECRETIN; SCT", "OMIM:182100": "FUCOSYLTRANSFERASE 2; FUT2", "OMIM:182115": "CYTOHESIN 1; CYTH1", "OMIM:182120": "SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC", "OMIM:182125": "SEPIAPTERIN REDUCTASE; SPR", "OMIM:182128": "SERINE DEHYDRATASE; SDS", "OMIM:182131": "5-HYDROXYTRYPTAMINE RECEPTOR 1B; HTR1B", "OMIM:182132": "5-HYDROXYTRYPTAMINE RECEPTOR 1E; HTR1E", "OMIM:182133": "5-HYDROXYTRYPTAMINE RECEPTOR 1D; HTR1D", "OMIM:182134": "5-HYDROXYTRYPTAMINE RECEPTOR 1F; HTR1F", "OMIM:182135": "5-HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A", "OMIM:182137": "5-HYDROXYTRYPTAMINE RECEPTOR 7; HTR7", "OMIM:182138": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN), MEMBER 4; SLC6A4", "OMIM:182139": "5-HYDROXYTRYPTAMINE RECEPTOR 3A; HTR3A", "OMIM:182140": "SEMENOGELIN I; SEMG1", "OMIM:182141": "SEMENOGELIN II; SEMG2", "OMIM:182144": "SERINE HYDROXYMETHYLTRANSFERASE, CYTOSOLIC; SHMT1", "OMIM:182145": "SERUM PROTEIN POLYMORPHISM M-158", "OMIM:182160": "SIALOPHORIN; SPN", "OMIM:182175": "SIGNAL RECOGNITION PARTICLE, 19-KD; SRP19", "OMIM:182180": "SRP RECEPTOR SUBUNIT, ALPHA; SRPRA", "OMIM:182205": "SEX HORMONE-BINDING GLOBULIN; SHBG", "OMIM:182220": "SISTER CHROMATID EXCHANGE, FREQUENCY OF", "OMIM:182257": "PROTEINASE INHIBITOR 3; PI3", "OMIM:182265": "SMALL PROLINE-RICH PROTEIN 1A; SPRR1A", "OMIM:182266": "SMALL PROLINE-RICH PROTEIN 1B; SPRR1B", "OMIM:182267": "SMALL PROLINE-RICH PROTEIN 2A; SPRR2A", "OMIM:182268": "SMALL PROLINE-RICH PROTEIN 2B; SPRR2B", "OMIM:182269": "SMALL PROLINE-RICH PROTEIN 2C, PSEUDOGENE; SPRR2C", "OMIM:182270": "KETONE COMPOUNDS, ABILITY TO SMELL", "OMIM:182271": "SMALL PROLINE-RICH PROTEIN 3; SPRR3", "OMIM:182279": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN", "OMIM:182281": "CHEMOKINE, CC MOTIF, LIGAND 1; CCL1", "OMIM:182282": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDES B AND B1; SNRPB", "OMIM:182283": "CHEMOKINE, CC MOTIF, LIGAND 3; CCL3", "OMIM:182284": "CHEMOKINE, CC MOTIF, LIGAND 4; CCL4", "OMIM:182285": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A; SNRPA", "OMIM:182305": "SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A1; SLC8A1", "OMIM:182307": "SOLUTE CARRIER FAMILY 9, MEMBER 3; SLC9A3", "OMIM:182308": "SOLUTE CARRIER FAMILY 17 (ORGANIC ANION COTRANSPORTER), MEMBER 1; SLC17A1", "OMIM:182309": "SOLUTE CARRIER FAMILY 34 (TYPE II SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 1; SLC34A1", "OMIM:182310": "ATPase, Na+/K+ TRANSPORTING, ALPHA-1 POLYPEPTIDE; ATP1A1", "OMIM:182330": "ATPase, Na+/K+ TRANSPORTING, BETA-1 POLYPEPTIDE; ATP1B1", "OMIM:182331": "ATPase, Na+/K+ TRANSPORTING, BETA-2 POLYPEPTIDE; ATP1B2", "OMIM:182340": "ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2", "OMIM:182350": "ATPase, Na+/K+ TRANSPORTING, ALPHA-3 POLYPEPTIDE; ATP1A3", "OMIM:182360": "ATPase, H+/K+ TRANSPORTING, NONGASTRIC, ALPHA POLYPEPTIDE; ATP12A", "OMIM:182380": "SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1; SLC5A1", "OMIM:182381": "SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 2; SLC5A2", "OMIM:182389": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 1; SCN1A", "OMIM:182390": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 2; SCN2A", "OMIM:182391": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 3; SCN3A", "OMIM:182392": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 7; SCN7A", "OMIM:182396": "SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 1; SLC10A1", "OMIM:182400": "SOMATOMEDIN, EMBRYONIC", "OMIM:182450": "SOMATOSTATIN; SST", "OMIM:182451": "SOMATOSTATIN RECEPTOR 1; SSTR1", "OMIM:182452": "SOMATOSTATIN RECEPTOR 2; SSTR2", "OMIM:182453": "SOMATOSTATIN RECEPTOR 3; SSTR3", "OMIM:182454": "SOMATOSTATIN RECEPTOR 4; SSTR4", "OMIM:182455": "SOMATOSTATIN RECEPTOR 5; SSTR5", "OMIM:182465": "SON DNA-BINDING PROTEIN; SON", "OMIM:182500": "SORBITOL DEHYDROGENASE; SORD", "OMIM:182520": "SORCIN; SRI", "OMIM:182530": "SOS RAS/RAC GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; SOS1", "OMIM:182590": "TREFOIL FACTOR 2; TFF2", "OMIM:182610": "SPASTIC PARAPLEGIA, EPILEPSY, AND IMPAIRED INTELLECTUAL DEVELOPMENT; SPEMR", "OMIM:182790": "SPECTRIN, BETA, NONERYTHROCYTIC, 1; SPTBN1", "OMIM:182810": "SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1", "OMIM:182820": "SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY", "OMIM:182860": "SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1", "OMIM:182870": "SPECTRIN, BETA, ERYTHROCYTIC; SPTB", "OMIM:182878": "OUTER DENSE FIBER OF SPERM TAILS 1; ODF1", "OMIM:182880": "SPERM PROTAMINE P1; PRM1", "OMIM:182882": "SPERM PROTAMINE P4; PRM4", "OMIM:182888": "ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2", "OMIM:182889": "ZONA PELLUCIDA GLYCOPROTEIN 3; ZP3", "OMIM:182890": "SPERM PROTAMINE P2; PRM2", "OMIM:182891": "SPERMIDINE SYNTHASE; SRM", "OMIM:183250": "REMOVED FROM DATABASE", "OMIM:183802": "SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS", "OMIM:183849": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS", "OMIM:184000": "SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS", "OMIM:184420": "FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1", "OMIM:184429": "SRY-BOX 2; SOX2", "OMIM:184430": "SRY-BOX 4; SOX4", "OMIM:184470": "STATHERIN; STATH", "OMIM:184600": "CYSTATIN A; CSTA", "OMIM:184745": "KIT LIGAND; KITLG", "OMIM:184753": "STEROID 5-ALPHA-REDUCTASE 1; SRD5A1", "OMIM:184755": "STEROL CARRIER PROTEIN 2; SCP2", "OMIM:184756": "STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1", "OMIM:184757": "NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1", "OMIM:184800": "STERNUM, PREMATURE OBLITERATION OF SUTURES OF", "OMIM:185069": "STORM SYNDROME", "OMIM:185120": "STRATTON-PARKER SYNDROME", "OMIM:185250": "MATRIX METALLOPROTEINASE 3; MMP3", "OMIM:185260": "MATRIX METALLOPROTEINASE 10; MMP10", "OMIM:185261": "MATRIX METALLOPROTEINASE 11; MMP11", "OMIM:185430": "CLUSTERIN; CLU", "OMIM:185440": "SUPPRESSOR OF TUMORIGENICITY 2; ST2", "OMIM:185450": "REMOVED FROM DATABASE", "OMIM:185470": "SUCCINATE DEHYDROGENASE COMPLEX, IRON-SULFUR SUBUNIT B; SDHB", "OMIM:185490": "SUPEROXIDE DISMUTASE 3; SOD3", "OMIM:185510": "SURFACE ANTIGEN 5; S5", "OMIM:185520": "SURFACE ANTIGEN 6; S6", "OMIM:185535": "EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM", "OMIM:185540": "SURFACE ANTIGEN, GLYCOPROTEIN 75", "OMIM:185560": "SURFACE ANTIGEN 8; S8", "OMIM:185570": "SURFACE ANTIGEN 17; SA17", "OMIM:185580": "SURFACE ANTIGEN 22; S13", "OMIM:185590": "SURFACE ANTIGEN 21; S14", "OMIM:185595": "REMOVED FROM DATABASE", "OMIM:185605": "SYNAPTOTAGMIN 1; SYT1", "OMIM:185610": "SURFACE POLYPEPTIDES, ANONYMOUS", "OMIM:185620": "SURFEIT 1; SURF1", "OMIM:185630": "SURFEIT 2; SURF2", "OMIM:185640": "RIBOSOMAL PROTEIN L7a; RPL7A", "OMIM:185641": "MEDIATOR COMPLEX SUBUNIT 22; MED22", "OMIM:185642": "SURFEIT 6; SURF6", "OMIM:185660": "SURFEIT 4; SURF4", "OMIM:185750": "SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET", "OMIM:185860": "SYNAPTIC VESICLE GLYCOPROTEIN 2A; SV2A", "OMIM:185861": "SYNAPTIC VESICLE GLYCOPROTEIN 2B; SV2B", "OMIM:185880": "VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; VAMP1", "OMIM:185881": "VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2", "OMIM:186355": "SYNDECAN 1; SDC1", "OMIM:186357": "SYNDECAN 3; SDC3", "OMIM:186360": "ANNEXIN A7; ANXA7", "OMIM:186590": "SYNTAXIN 1A; STX1A", "OMIM:186591": "SYNTAXIN 4; STX4", "OMIM:186690": "REMOVED FROM DATABASE", "OMIM:186711": "CD27 ANTIGEN; CD27", "OMIM:186720": "CD6 ANTIGEN; CD6", "OMIM:186730": "CD8 ANTIGEN, BETA POLYPEPTIDE; CD8B", "OMIM:186740": "CD3 ANTIGEN, GAMMA SUBUNIT; CD3G", "OMIM:186745": "TALIN 1; TLN1", "OMIM:186760": "ANTIGEN CD28; CD28", "OMIM:186770": "T-CELL LEUKEMIA, HOMEOBOX 1; TLX1", "OMIM:186780": "CD247 ANTIGEN; CD247", "OMIM:186790": "CD3 ANTIGEN, DELTA SUBUNIT; CD3D", "OMIM:186810": "T-CELL RECEPTOR DELTA CHAIN CONSTANT REGION; TRDC", "OMIM:186820": "T-CELL ANTIGEN CD7; CD7", "OMIM:186830": "CD3 ANTIGEN, EPSILON SUBUNIT; CD3E", "OMIM:186845": "CD81 ANTIGEN; CD81", "OMIM:186852": "PROTEASOME 26S SUBUNIT, ATPase, 3; PSMC3", "OMIM:186854": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, TAURINE), MEMBER 6; SLC6A6", "OMIM:186855": "T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 2; TAL2", "OMIM:186860": "T-CELL LEUKEMIA/LYMPHOMA 4; TCL4", "OMIM:186880": "T-CELL RECEPTOR ALPHA CHAIN CONSTANT REGION; TRAC", "OMIM:186890": "TEAR PROTEIN, ANODAL", "OMIM:186910": "CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A", "OMIM:186920": "REMOVED FROM DATABASE", "OMIM:186921": "LIM DOMAIN ONLY 1; LMO1", "OMIM:186930": "T-CELL RECEPTOR BETA CHAIN CONSTANT REGION 1; TRBC1", "OMIM:186940": "CD4 ANTIGEN; CD4", "OMIM:186945": "FK506-BINDING PROTEIN 1A; FKBP1A", "OMIM:186946": "FK506-BINDING PROTEIN 2; FKBP2", "OMIM:186947": "FK506-BINDING PROTEIN 3; FKBP3", "OMIM:186950": "T-CELL SUBGROUPS, NON-HLA-LINKED", "OMIM:186960": "TCL1 FAMILY AKT COACTIVATOR A; TCL1A", "OMIM:186970": "T-CELL RECEPTOR GAMMA CHAIN CONSTANT REGION 1; TRGC1", "OMIM:186973": "IL2-INDUCIBLE T-CELL KINASE; ITK", "OMIM:186975": "T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1; TCTE1", "OMIM:186977": "T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 3; TCTE3", "OMIM:186980": "T-COMPLEX 1; TCP1", "OMIM:186982": "T-COMPLEX PROTEIN 11; TCP11", "OMIM:186990": "T-LYMPHOCYTE SURFACE CD2 ANTIGEN; CD2", "OMIM:187011": "CHEMOKINE, CC MOTIF, LIGAND 5; CCL5", "OMIM:187020": "T-COMPLEX 10; TCP10", "OMIM:187030": "T-COMPLEX LOCUS TCP10B; TCP10B", "OMIM:187040": "T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1", "OMIM:187100": "TEETH, SUPERNUMERARY", "OMIM:187270": "TELOMERASE REVERSE TRANSCRIPTASE; TERT", "OMIM:187280": "POLYMERASE III, RNA, SUBUNIT D; POLR3D", "OMIM:187290": "TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142; H142T", "OMIM:187310": "TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, K12", "OMIM:187320": "TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13; TS13", "OMIM:187330": "TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546; TS546", "OMIM:187340": "TEMPERATURE-SENSITIVE LETHAL MUTATION", "OMIM:187380": "TENASCIN C; TNC", "OMIM:187400": "TESTICULAR TORSION", "OMIM:187410": "DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL; DNTT", "OMIM:187430": "CYSTEINE-RICH SECRETORY PROTEIN 2; CRISP2", "OMIM:187520": "C-TYPE LECTIN DOMAIN FAMILY 3, MEMBER B; CLEC3B", "OMIM:187650": "THEOPHYLLINE BIOTRANSFORMATION", "OMIM:187680": "THIOPURINE S-METHYLTRANSFERASE; TPMT", "OMIM:187700": "THIOREDOXIN; TXN", "OMIM:187790": "THREONYL-tRNA SYNTHETASE 1; TARS1", "OMIM:187930": "COAGULATION FACTOR II RECEPTOR; F2R", "OMIM:187940": "THROMBOCYTE B; THB", "OMIM:188020": "THROMBOCYTOPENIA, CYCLIC", "OMIM:188035": "PRO-PLATELET BASIC PROTEIN-LIKE 1; PPBPL1", "OMIM:188040": "THROMBOMODULIN; THBD", "OMIM:188060": "THROMBOSPONDIN I; THBS1", "OMIM:188061": "THROMBOSPONDIN II; THBS2", "OMIM:188062": "THROMBOSPONDIN III; THBS3", "OMIM:188070": "THROMBOXANE A2 RECEPTOR, PLATELET; TBXA2R", "OMIM:188230": "THY-1 T-CELL ANTIGEN; THY1", "OMIM:188250": "THYMIDINE KINASE, MITOCHONDRIAL; TK2", "OMIM:188300": "THYMIDINE KINASE, SOLUBLE; TK1", "OMIM:188340": "THYMOCYTE ANTIGEN CD1C; CD1C", "OMIM:188345": "DEOXYTHYMIDYLATE KINASE; DTYMK", "OMIM:188350": "THYMIDYLATE SYNTHETASE; TYMS", "OMIM:188360": "THYMOCYTE ANTIGEN CD1B; CD1B", "OMIM:188370": "THYMOCYTE ANTIGEN CD1A; CD1A", "OMIM:188380": "THYMOPOIETIN; TMPO", "OMIM:188390": "PROTHYMOSIN, ALPHA; PTMA", "OMIM:188399": "THYMOSIN, BETA-10; TMSB10", "OMIM:188410": "THYMOCYTE ANTIGEN CD1D; CD1D", "OMIM:188411": "THYMOCYTE ANTIGEN CD1E; CD1E", "OMIM:188450": "THYROGLOBULIN; TG", "OMIM:188455": "THYROGLOSSAL DUCT CYST, FAMILIAL", "OMIM:188540": "THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB", "OMIM:188545": "THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR", "OMIM:188595": "THYROTROPH EMBRYONIC FACTOR; TEF", "OMIM:188825": "TISSUE INHIBITOR OF METALLOPROTEINASE 2; TIMP2", "OMIM:188826": "TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3", "OMIM:188830": "PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A", "OMIM:188840": "TITIN; TTN", "OMIM:188850": "TL ANTIGEN", "OMIM:188855": "GRANULYSIN; GNLY", "OMIM:188860": "MYELIN AND LYMPHOCYTE PROTEIN; MAL", "OMIM:188890": "TOBACCO ADDICTION, SUSCEPTIBILITY TO", "OMIM:189300": "TONGUE CURLING, FOLDING, OR ROLLING", "OMIM:189700": "TORUS PALATINUS AND TORUS MANDIBULARIS", "OMIM:189880": "tRNA ASPARAGINE (ANTICODON GTT) 2-7; TRN-GTT2-7", "OMIM:189889": "TRANSCRIPTION FACTOR CP2; TFCP2", "OMIM:189890": "TRANSFER RNA ASPARAGINE-LIKE; TRNL", "OMIM:189901": "TRANSCRIPTION FACTOR 9; TCF9", "OMIM:189902": "TRANSCRIPTION FACTOR DP1; TFDP1", "OMIM:189903": "NUCLEAR TRANSCRIPTION FACTOR Y, ALPHA; NFYA", "OMIM:189904": "NUCLEAR TRANSCRIPTION FACTOR Y, BETA; NFYB", "OMIM:189905": "TRANSCOBALAMIN I; TCN1", "OMIM:189906": "TRANSCRIPTION FACTOR Sp1; SP1", "OMIM:189907": "HNF1 HOMEOBOX B; HNF1B", "OMIM:189908": "TRANSCRIPTION FACTOR 7; TCF7", "OMIM:189909": "ZINC FINGER E BOX-BINDING HOMEOBOX 1; ZEB1", "OMIM:189910": "tRNA SERINE (ANTICODON AGA) 2-3; TRS-AGA2-3", "OMIM:189911": "tRNA GLYCINE (ANTICODON CCC) 1-1; TRG-CCC1-1", "OMIM:189912": "tRNA PROLINE (ANTICODON TGG) 3-1; TRP-TGG3-1", "OMIM:189913": "tRNA THREONINE (ANTICODON TGT) 6-1; TRT-TGT6-1", "OMIM:189918": "tRNA LYSINE (ANTICODON TTT) 3-5; TRK-TTT3-5", "OMIM:189919": "tRNA GLUTAMINE (ANTICODON CTG) 1-5; TRQ-CTG1-5", "OMIM:189920": "tRNA LEUCINE (ANTICODON TAG) 1-1; TRL-TAG1-1", "OMIM:189921": "tRNA VALINE (ANTICODON AAC) 1-4; TRV-AAC1-4", "OMIM:189923": "tRNA GLUTAMINE (ANTICODON TTG) 1-1; TRQ-TTG1-1", "OMIM:189930": "tRNA PROLINE (ANTICODON AGG) 2-5; TRP-AGG2-5", "OMIM:189931": "tRNA PROLINE (ANTICODON AGG) 2-6; TRP-AGG2-6", "OMIM:189932": "tRNA LEUCINE (ANTICODON AAG) 2-3; TRL-AAG2-3", "OMIM:189933": "tRNA THREONINE (ANTICODON TGT) 3-1; TRT-TGT3-1", "OMIM:189940": "TRANSLOCATED PROMOTER REGION; TPR", "OMIM:189961": "TRACHEOPATHIA OSTEOPLASTICA", "OMIM:189962": "GENERAL TRANSCRIPTION FACTOR IIE, POLYPEPTIDE 1; GTF2E1", "OMIM:189963": "GENERAL TRANSCRIPTION FACTOR IIB; GTF2B", "OMIM:189964": "GENERAL TRANSCRIPTION FACTOR IIE, POLYPEPTIDE 2; GTF2E2", "OMIM:189965": "CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB", "OMIM:189967": "TEA DOMAIN FAMILY MEMBER 1; TEAD1", "OMIM:189968": "GENERAL TRANSCRIPTION FACTOR IIF, POLYPEPTIDE 1, 74-KD; GTF2F1", "OMIM:189969": "GENERAL TRANSCRIPTION FACTOR IIF, POLYPEPTIDE 2, 30-KD; GTF2F2", "OMIM:189970": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE 1; GNGT1", "OMIM:189971": "E2F TRANSCRIPTION FACTOR 1; E2F1", "OMIM:189972": "GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 1; GTF2H1", "OMIM:189973": "E74-LIKE ETS TRANSCRIPTION FACTOR 1; ELF1", "OMIM:189980": "ABL PROTOONCOGENE 1, NONRECEPTOR TYROSINE KINASE; ABL1", "OMIM:189990": "MYB PROTOONCOGENE, TRANSCRIPTION FACTOR; MYB", "OMIM:190000": "TRANSFERRIN; TF", "OMIM:190010": "TRANSFERRIN RECEPTOR; TFRC", "OMIM:190020": "HRAS PROTOONCOGENE, GTPase; HRAS", "OMIM:190030": "FES PROTOONCOGENE, TYROSINE KINASE; FES", "OMIM:190040": "PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB", "OMIM:190060": "MOS PROTOONCOGENE, SERINE/THREONINE KINASE; MOS", "OMIM:190070": "KRAS PROTOONCOGENE, GTPase; KRAS", "OMIM:190080": "MYC PROTOONCOGENE, bHLH TRANSCRIPTION FACTOR; MYC", "OMIM:190090": "SRC PROTOONCOGENE, NONRECEPTOR TYROSINE KINASE; SRC", "OMIM:190120": "THYROID HORMONE RECEPTOR, ALPHA-1; THRA", "OMIM:190151": "ERB-B2 RECEPTOR TYROSINE KINASE 3; ERBB3", "OMIM:190160": "THYROID HORMONE RECEPTOR, BETA; THRB", "OMIM:190170": "TRANSFORMING GROWTH FACTOR, ALPHA; TGFA", "OMIM:190180": "TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1", "OMIM:190181": "TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1", "OMIM:190182": "TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2", "OMIM:190195": "TRANSGLUTAMINASE 1; TGM1", "OMIM:190196": "TRANSGLUTAMINASE 2; TGM2", "OMIM:190197": "CONTACTIN 2; CNTN2", "OMIM:190198": "NOTCH RECEPTOR 1; NOTCH1", "OMIM:190220": "TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2", "OMIM:190230": "TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3", "OMIM:190231": "TRANSITION PROTEIN 1; TNP1", "OMIM:190232": "TRANSITION PROTEIN 2; TNP2", "OMIM:190315": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, CITRATE TRANSPORTER), MEMBER 1; SLC25A1", "OMIM:190345": "TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC", "OMIM:190360": "TRICHODYSPLASIA-XERODERMA", "OMIM:190370": "TRICHOHYALIN; TCHH", "OMIM:190445": "TRIIODOTHYRONINE RECEPTOR AUXILIARY PROTEIN; TRAP", "OMIM:190450": "TRIOSEPHOSPHATE ISOMERASE 1; TPI1", "OMIM:190470": "TRIPEPTIDYL PEPTIDASE II; TPP2", "OMIM:190605": "TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY; TPTPS", "OMIM:190700": "ZFP36 RING FINGER PROTEIN; ZFP36", "OMIM:190920": "TROPHOBLAST GLYCOPROTEIN; TPBG", "OMIM:190930": "TROPOMODULIN 1; TMOD1", "OMIM:190940": "ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 1; ERVT1", "OMIM:190950": "ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 2; ERVT2", "OMIM:190960": "ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 3; ERVT3", "OMIM:190970": "ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 4; ERVT4", "OMIM:190980": "ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 5; ERVT5", "OMIM:190990": "TROPOMYOSIN 2; TPM2", "OMIM:191010": "TROPOMYOSIN 1; TPM1", "OMIM:191030": "TROPOMYOSIN 3; TPM3", "OMIM:191039": "TROPONIN C, FAST; TNNC2", "OMIM:191040": "TROPONIN C, SLOW; TNNC1", "OMIM:191041": "TROPONIN T1, SKELETAL, SLOW; TNNT1", "OMIM:191042": "TROPONIN I, SLOW-TWITCH SKELETAL MUSCLE ISOFORM; TNNI1", "OMIM:191043": "TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2", "OMIM:191044": "TROPONIN I, CARDIAC; TNNI3", "OMIM:191045": "TROPONIN T2, CARDIAC; TNNT2", "OMIM:191050": "TRYPTOPHANYL-tRNA SYNTHETASE 1; WARS1", "OMIM:191060": "TRYPTOPHAN HYDROXYLASE 1; TPH1", "OMIM:191070": "TRYPTOPHAN 2,3-DIOXYGENASE; TDO2", "OMIM:191080": "TRYPTASE, ALPHA/BETA-1; TPSAB1", "OMIM:191081": "TRYPTASE, BETA-2; TPSB2", "OMIM:191092": "TSC COMPLEX SUBUNIT 2; TSC2", "OMIM:191110": "TUBULIN, ALPHA-4A; TUBA4A", "OMIM:191120": "TUBULIN, ALPHA-LIKE 1; TUBAL1", "OMIM:191130": "TUBULIN, BETA; TUBB", "OMIM:191135": "TUBULIN, GAMMA-1; TUBG1", "OMIM:191155": "TRANSMEMBRANE 4 L6 FAMILY, MEMBER 1; TM4SF1", "OMIM:191160": "TUMOR NECROSIS FACTOR; TNF", "OMIM:191161": "TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 1; TNFAIP1", "OMIM:191163": "TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3", "OMIM:191164": "EPHRIN A1; EFNA1", "OMIM:191170": "TUMOR PROTEIN p53; TP53", "OMIM:191175": "HEAT-SHOCK PROTEIN, 90-KD, BETA, 1; HSP90B1", "OMIM:191181": "SUPPRESSOR OF TUMORIGENICITY 3; ST3", "OMIM:191190": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A", "OMIM:191191": "TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B", "OMIM:191195": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8", "OMIM:191250": "TWINNING DUE TO SUPERFETATION", "OMIM:191270": "TYROSINASE-LIKE; TYRL", "OMIM:191275": "DOPACHROME TAUTOMERASE; DCT", "OMIM:191290": "TYROSINE HYDROXYLASE; TH", "OMIM:191305": "BLK PROTOONCOGENE, SRC FAMILY TYROSINE KINASE; BLK", "OMIM:191306": "KINASE INSERT DOMAIN RECEPTOR; KDR", "OMIM:191311": "DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 2; DDR2", "OMIM:191315": "NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1", "OMIM:191316": "NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3", "OMIM:191317": "U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 1; U2AF1", "OMIM:191318": "U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 2; U2AF2", "OMIM:191321": "UBIQUITIN A-52-RESIDUE RIBOSOMAL PROTEIN FUSION PRODUCT; UBA52", "OMIM:191325": "UBIQUITIN-LIKE MODIFIER ACTIVATING ENZYME 7; UBA7", "OMIM:191327": "UBIQUINOL-CYTOCHROME c REDUCTASE, RIESKE IRON-SULFUR; UQCRFS1", "OMIM:191328": "UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN I; UQCRC1", "OMIM:191329": "UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN II; UQCRC2", "OMIM:191330": "UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB", "OMIM:191339": "UBIQUITIN B; UBB", "OMIM:191340": "UBIQUITIN C; UBC", "OMIM:191342": "UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1", "OMIM:191343": "RIBOSOMAL PROTEIN S27a; RPS27A", "OMIM:191350": "DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1", "OMIM:191400": "ULNA AND FIBULA, HYPOPLASIA OF", "OMIM:191482": "UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY", "OMIM:191510": "COLD-SHOCK DOMAIN-CONTAINING E1, RNA-BINDING; CSDE1", "OMIM:191523": "UPSTREAM TRANSCRIPTION FACTOR 1; USF1", "OMIM:191525": "URACIL-DNA GLYCOSYLASE; UNG", "OMIM:191530": "URATE-BINDING GLOBULIN, DECREASE IN", "OMIM:191540": "URATE OXIDASE, PSEUDOGENE; UOX", "OMIM:191700": "UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT", "OMIM:191710": "CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 1, CYTOSOLIC; CMPK1", "OMIM:191720": "5-PRIME,3-PRIME-NUCLEOTIDASE, CYTOSOLIC; NT5C", "OMIM:191730": "URIDINE PHOSPHORYLASE 1; UPP1", "OMIM:191740": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1", "OMIM:191760": "URIDYL DIPHOSPHATE GLUCOSE PYROPHOSPHORYLASE 2; UGP2", "OMIM:191840": "PLASMINOGEN ACTIVATOR, URINARY; PLAU", "OMIM:191845": "UROMODULIN; UMOD", "OMIM:192020": "SECRETOGLOBIN, FAMILY 1A, MEMBER 1; SCGB1A1", "OMIM:192050": "UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS", "OMIM:192070": "REMOVED FROM DATABASE", "OMIM:192090": "CADHERIN 1; CDH1", "OMIM:192130": "ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A1; ATP6V0A1", "OMIM:192132": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 1; ATP6V1B1", "OMIM:192150": "VALYL-tRNA SYNTHETASE 1; VARS1", "OMIM:192225": "VASCULAR CELL ADHESION MOLECULE 1; VCAM1", "OMIM:192240": "VASCULAR ENDOTHELIAL GROWTH FACTOR A; VEGFA", "OMIM:192300": "VASCULAR HELIX OF UMBILICAL CORD", "OMIM:192320": "VASOACTIVE INTESTINAL PEPTIDE; VIP", "OMIM:192321": "VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1", "OMIM:192340": "ARGININE VASOPRESSIN; AVP", "OMIM:192400": "VEINS, PATTERN OF, ON ANTERIOR THORAX", "OMIM:192968": "INTEGRIN, ALPHA-1; ITGA1", "OMIM:192974": "INTEGRIN, ALPHA-2; ITGA2", "OMIM:192975": "INTEGRIN, ALPHA-4; ITGA4", "OMIM:192977": "VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR", "OMIM:193001": "SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 2; SLC18A2", "OMIM:193002": "SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 1; SLC18A1", "OMIM:193040": "VILLIN 1; VIL1", "OMIM:193060": "VIMENTIN; VIM", "OMIM:193065": "VINCULIN; VCL", "OMIM:193067": "FLI1 PROTOONCOGENE, ETS TRANSCRIPTION FACTOR; FLI1", "OMIM:193070": "VIRUS RD114 RNA COMPLEMENTARITY", "OMIM:193190": "VITRONECTIN; VTN", "OMIM:193210": "INTEGRIN, ALPHA-V; ITGAV", "OMIM:193245": "VOLTAGE-DEPENDENT ANION CHANNEL 2; VDAC2", "OMIM:193450": "VULVOVAGINITIS, ALLERGIC SEMINAL", "OMIM:193525": "WEE1 G2 CHECKPOINT KINASE; WEE1", "OMIM:193675": "REMOVED FROM DATABASE", "OMIM:194000": "WIDOW'S PEAK", "OMIM:194355": "X BOX-BINDING PROTEIN 1; XBP1", "OMIM:194360": "X-RAY REPAIR CROSS COMPLEMENTING 1; XRCC1", "OMIM:194363": "X-RAY REPAIR CROSS COMPLEMENTING 4; XRCC4", "OMIM:194364": "X-RAY REPAIR CROSS COMPLEMENTING 5; XRCC5", "OMIM:194370": "X-RAY SENSITIVITY; XRS", "OMIM:194400": "XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD", "OMIM:194450": "YEAST FACTOR", "OMIM:194460": "ALPHA-2-GLYCOPROTEIN, ZINC; AZGP1", "OMIM:194480": "ZFP3 RING FINGER PROTEIN; ZFP3", "OMIM:194490": "ZINC FINGER PROTEIN 1; ZNF1", "OMIM:194500": "ZINC FINGER PROTEIN 2; ZNF2", "OMIM:194510": "ZINC FINGER PROTEIN 3; ZNF3", "OMIM:194520": "REMOVED FROM DATABASE", "OMIM:194521": "ZINC FINGER PROTEIN 33A; ZNF33A", "OMIM:194522": "ZINC FINGER PROTEIN 33B; ZNF33B", "OMIM:194524": "ZINC FINGER PROTEIN 18; ZNF18", "OMIM:194525": "ZINC FINGER PROTEIN 19; ZNF19", "OMIM:194526": "ZINC FINGER PROTEIN 34; ZNF34", "OMIM:194527": "ZINC FINGER PROTEIN 23; ZNF23", "OMIM:194528": "ZINC FINGER PROTEIN 25; ZNF25", "OMIM:194529": "ZINC FINGER PROTEIN 22; ZNF22", "OMIM:194530": "REMOVED FROM DATABASE", "OMIM:194531": "ZINC FINGER PROTEIN 7; ZNF7", "OMIM:194532": "ZINC FINGER PROTEIN 8; ZNF8", "OMIM:194533": "ZINC FINGER PROTEIN 35; ZNF35", "OMIM:194534": "ZINC FINGER PROTEIN 24; ZNF24", "OMIM:194535": "ZINC FINGER PROTEIN 29, PSEUDOGENE; ZNF29P", "OMIM:194536": "ZINC FINGER PROTEIN 12; ZNF12", "OMIM:194537": "ZINC FINGER PROTEIN 26; ZNF26", "OMIM:194538": "ZINC FINGER PROTEIN 10; ZNF10", "OMIM:194539": "ZINC FINGER PROTEIN 32; ZNF32", "OMIM:194540": "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 1; HIVEP1", "OMIM:194541": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 25; ZBTB25", "OMIM:194542": "ZINC FINGER PROTEIN 44; ZNF44", "OMIM:194543": "ZINC FINGER PROTEIN 69; ZNF69", "OMIM:194544": "ZINC FINGER PROTEIN 70; ZNF70", "OMIM:194545": "ZINC FINGER PROTEIN 71; ZNF71", "OMIM:194546": "ZINC FINGER PROTEIN 72; ZNF72", "OMIM:194547": "ZINC FINGER PROTEIN 73; ZNF73", "OMIM:194548": "ZINC FINGER PROTEIN 74; ZNF74", "OMIM:194549": "ZINC FINGER PROTEIN 76; ZNF76", "OMIM:194550": "MYELOID ZINC FINGER 1; MZF1", "OMIM:194551": "ZINC FINGER PROTEIN 77; ZNF77", "OMIM:194552": "ZINC FINGER PROTEIN 79; ZNF79", "OMIM:194553": "ZINC FINGER PROTEIN 80; ZNF80", "OMIM:194554": "ZINC FINGER PROTEIN 45; ZNF45", "OMIM:194555": "ZINC FINGER PROTEIN 224; ZNF224", "OMIM:194556": "ZINC FINGER PROTEIN 14; ZNF14", "OMIM:194557": "ZINC FINGER PROTEIN 20; ZNF20", "OMIM:194558": "ZINC FINGER PROTEIN 83; ZNF83", "OMIM:194624": "ZINC FINGER PROTEIN 117; ZNF117", "OMIM:194628": "ZINC FINGER PROTEIN 121; ZNF121", "OMIM:194630": "ZINC FINGER PROTEIN 123, PSEUDOGENE; ZNF123P", "OMIM:194631": "ZINC FINGER PROTEIN 124; ZNF124", "OMIM:194632": "ZINC FINGER PROTEIN 125; ZNF125", "OMIM:194633": "ZINC FINGER PROTEIN 126; ZNF126", "OMIM:194648": "ZINC FINGER PROTEIN 141; ZNF141", "OMIM:195000": "ZONA PELLUCIDA GLYCOPROTEIN 1; ZP1", "OMIM:200350": "ACETYL-CoA CARBOXYLASE-ALPHA; ACACA", "OMIM:200930": "REMOVED FROM DATABASE", "OMIM:200950": "ACID PHOSPHATASE DEFICIENCY", "OMIM:201020": "ACROCEPHALOPOLYSYNDACTYLY TYPE IV", "OMIM:201050": "ACROCRANIOFACIAL DYSOSTOSIS", "OMIM:201200": "ACROGERIA, GOTTRON TYPE", "OMIM:201310": "ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE", "OMIM:202155": "ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE", "OMIM:202660": "PAGOD SYNDROME", "OMIM:202900": "ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS", "OMIM:203600": "ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN", "OMIM:204400": "REMOVED FROM DATABASE", "OMIM:206000": "ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE", "OMIM:206600": "ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS", "OMIM:207620": "APHALANGY WITH HEMIVERTEBRAE", "OMIM:207720": "APNEA, CENTRAL SLEEP", "OMIM:207790": "ARACHNOID CYSTS, INTRACRANIAL", "OMIM:208081": "ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CHARACTERISTIC FACIES", "OMIM:208870": "ATAXIA-MICROCEPHALY-CATARACT SYNDROME", "OMIM:208910": "ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH", "OMIM:209800": "AUSTRALIA ANTIGEN", "OMIM:209901": "BBS1 GENE; BBS1", "OMIM:210400": "BIFID NOSE, AUTOSOMAL RECESSIVE", "OMIM:210750": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6", "OMIM:211100": "FUCOSYLTRANSFERASE 1; FUT1", "OMIM:211120": "BONE DYSPLASIA, LETHAL, HOLMGREN TYPE", "OMIM:211200": "BOWEN SYNDROME OF MULTIPLE MALFORMATIONS", "OMIM:211355": "BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC", "OMIM:211370": "BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM", "OMIM:211420": "REMOVED FROM DATABASE", "OMIM:211450": "WILLIAMS-CAMPBELL SYNDROME", "OMIM:211910": "CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1", "OMIM:211920": "CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II", "OMIM:211930": "CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA", "OMIM:211965": "CAMPTODACTYLY-ICHTHYOSIS SYNDROME", "OMIM:212135": "CARDIOSKELETAL SYNDROME, KUWAITI TYPE", "OMIM:212540": "CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME", "OMIM:212600": "REMOVED FROM DATABASE", "OMIM:212700": "REMOVED FROM DATABASE", "OMIM:212835": "CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA", "OMIM:212895": "CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA", "OMIM:213400": "DYSSYNERGIA CEREBELLARIS MYOCLONICA OF HUNT", "OMIM:213820": "CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS", "OMIM:213950": "CEREBROCORTICAL DEGENERATION OF INFANCY", "OMIM:214980": "CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE", "OMIM:215030": "CHOLESTEROL PNEUMONIA", "OMIM:215105": "CHONDRODYSPLASIA PUNCTATA SYNDROME", "OMIM:215510": "CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY", "OMIM:217030": "COMPLEMENT FACTOR I; CFI", "OMIM:217050": "COMPLEMENT COMPONENT 6; C6", "OMIM:217070": "COMPLEMENT COMPONENT 7; C7", "OMIM:217520": "CORNEAL DEGENERATION, BAND-SHAPED SPHEROID", "OMIM:218010": "CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY", "OMIM:218090": "CRANE-HEISE SYNDROME", "OMIM:218300": "CRANIODIAPHYSEAL DYSPLASIA; CDD", "OMIM:218450": "CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS", "OMIM:218530": "CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS", "OMIM:218649": "LIN-GETTING SYNDROME", "OMIM:219400": "CYANOSIS AND HEPATIC DISEASE", "OMIM:219721": "CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:220219": "DANDY-WALKER MALFORMATION WITH IMPAIRED INTELLECTUAL DEVELOPMENT, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY", "OMIM:220300": "DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY", "OMIM:221000": "REMOVED FROM DATABASE", "OMIM:221760": "DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF", "OMIM:221780": "DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH", "OMIM:221810": "DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE", "OMIM:221950": "DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA", "OMIM:222745": "2,4-DIENOYL-CoA REDUCTASE 1, MITOCHONDRIAL; DECR1", "OMIM:223300": "DISSEMINATED SCLEROSIS WITH NARCOLEPSY", "OMIM:223320": "DIVERTICULOSIS, SMALL-INTESTINAL", "OMIM:223330": "DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT", "OMIM:223380": "DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF", "OMIM:223540": "MOLLICA SYNDROME", "OMIM:224250": "DYSMYELINATION WITH JAUNDICE", "OMIM:224550": "DYSTONIA WITH RINGBINDEN", "OMIM:225000": "ROSSELLI-GULIENETTI SYNDROME", "OMIM:225360": "REMOVED FROM DATABASE", "OMIM:225740": "ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS", "OMIM:225755": "ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION", "OMIM:226000": "ENDOCARDIAL FIBROELASTOSIS; EFE", "OMIM:226110": "ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA", "OMIM:226440": "EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:226985": "EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT", "OMIM:227210": "EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY", "OMIM:227220": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1", "OMIM:227240": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5", "OMIM:227250": "FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:227255": "FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS", "OMIM:227280": "FACIOCARDIORENAL SYNDROME", "OMIM:227320": "FACIOTHORACOGENITAL SYNDROME", "OMIM:228100": "VISCERAL STEATOSIS, CONGENITAL", "OMIM:228200": "FEMUR-FIBULA-ULNA SYNDROME", "OMIM:228560": "FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES", "OMIM:228800": "FIBROSCLEROSIS, MULTIFOCAL", "OMIM:228940": "FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES", "OMIM:228990": "FLECK RETINA OF KANDORI", "OMIM:229000": "KALLIKREIN B, PLASMA, 1; KLKB1", "OMIM:229045": "FOCAL EPITHELIAL HYPERPLASIA, ORAL", "OMIM:229250": "FREESIA FLOWERS, INABILITY TO SMELL", "OMIM:229310": "FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA", "OMIM:229650": "FRUCTOSE UTILIZATION", "OMIM:231080": "GERMAN SYNDROME", "OMIM:231400": "REMOVED FROM DATABASE", "OMIM:231610": "REMOVED FROM DATABASE", "OMIM:231675": "ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH", "OMIM:231970": "GLUTEAL MUSCLES, ABSENCE OF", "OMIM:232000": "PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA", "OMIM:232050": "PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB", "OMIM:233805": "GROWTH FACTORS, COMBINED DEFECT OF", "OMIM:233810": "GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA", "OMIM:234300": "HALO NEVI", "OMIM:234350": "HALOTHANE HEPATITIS", "OMIM:234750": "HEART, MALFORMATION OF", "OMIM:234800": "HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES", "OMIM:236410": "HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES", "OMIM:236635": "HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS", "OMIM:236640": "HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS", "OMIM:237100": "HYMEN, IMPERFORATE", "OMIM:238300": "GLYCINE DECARBOXYLASE; GLDC", "OMIM:238310": "AMINOMETHYLTRANSFERASE; AMT", "OMIM:238330": "GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH", "OMIM:238331": "DIHYDROLIPOAMIDE DEHYDROGENASE; DLD", "OMIM:239350": "HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES", "OMIM:239400": "REMOVED FROM DATABASE", "OMIM:239711": "HYPERTELORISM AND TETRALOGY OF FALLOT", "OMIM:240100": "REMOVED FROM DATABASE", "OMIM:240150": "HYPERVITAMINOSIS A, SUSCEPTIBILITY TO", "OMIM:241519": "HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS", "OMIM:241540": "HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS", "OMIM:241760": "HYPOSPADIAS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME", "OMIM:242400": "ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA", "OMIM:242680": "CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA", "OMIM:242800": "REMOVED FROM DATABASE", "OMIM:242850": "IMMUNE DEFICIENCY DISEASE", "OMIM:243305": "INVERSIN; INVS", "OMIM:244510": "KERATOCONUS AND CONGENITAL HIP DYSPLASIA", "OMIM:245100": "RICHARDS-RUNDLE SYNDROME; RRNS", "OMIM:245160": "KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS", "OMIM:245190": "KNIEST-LIKE DYSPLASIA, LETHAL", "OMIM:245300": "KURU, SUSCEPTIBILITY TO", "OMIM:245500": "REMOVED FROM DATABASE", "OMIM:246530": "LEUKOTRIENE C4 SYNTHASE; LTC4S", "OMIM:246550": "LICHTENSTEIN SYNDROME", "OMIM:246600": "PANCREATIC LIPASE; PNLIP", "OMIM:247420": "LUTHERAN NULL", "OMIM:247630": "LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE", "OMIM:247980": "LIPASE B, LYSOSOMAL ACID; LIPB", "OMIM:248010": "MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE", "OMIM:248110": "MACROSOMIA WITH MICROPHTHALMIA, LETHAL", "OMIM:248310": "PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL", "OMIM:248350": "MALOCCLUSION AND SHORT STATURE", "OMIM:248400": "MANDIBULOFACIAL DYSOSTOSIS WITH IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:248610": "DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT", "OMIM:248611": "BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB", "OMIM:248760": "MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS", "OMIM:248770": "MARFANOID IMPAIRED INTELLECTUAL DEVELOPMENTAL SYNDROME, AUTOSOMAL", "OMIM:248950": "MCDONOUGH SYNDROME", "OMIM:249300": "MEGALOCORNEA", "OMIM:249630": "MUTCHINICK SYNDROME", "OMIM:249800": "REMOVED FROM DATABASE", "OMIM:250215": "METAPHYSEAL ACROSCYPHODYSPLASIA", "OMIM:250230": "METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE", "OMIM:250450": "METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY", "OMIM:250650": "METHANE PRODUCTION", "OMIM:250700": "METHEMOGLOBIN REDUCTASE DEFICIENCY", "OMIM:251170": "MEVALONATE KINASE; MVK", "OMIM:251190": "MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE", "OMIM:251400": "MICROCOLON", "OMIM:252030": "REMOVED FROM DATABASE", "OMIM:252320": "MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA", "OMIM:252800": "ALPHA-L-IDURONIDASE; IDUA", "OMIM:253320": "CHUDLEY SYNDROME", "OMIM:253500": "REMOVED FROM DATABASE", "OMIM:254960": "MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT", "OMIM:255140": "MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA", "OMIM:255900": "MYXEDEMA", "OMIM:256120": "NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM", "OMIM:256690": "NEUROFACIODIGITORENAL SYNDROME", "OMIM:256720": "NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY", "OMIM:256855": "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE", "OMIM:256860": "NEUROPATHY, HEREDITARY SENSORY, ATYPICAL", "OMIM:256870": "NEUROPATHY, PAINFUL", "OMIM:257000": "NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES", "OMIM:257600": "OCULAR MYOPATHY WITH CURARE SENSITIVITY", "OMIM:257790": "OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS", "OMIM:257960": "OCULOTRICHODYSPLASIA; OTD", "OMIM:258300": "CEREBELLAR ATAXIA AND ALBINISM", "OMIM:258650": "OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE", "OMIM:258840": "ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS", "OMIM:259250": "OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE", "OMIM:259550": "OSTEOID OSTEOMA", "OMIM:259610": "OSTEOLYSIS SYNDROME, RECESSIVE", "OMIM:260130": "PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE", "OMIM:260150": "PALANT CLEFT PALATE SYNDROME", "OMIM:260200": "PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA", "OMIM:260480": "PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX", "OMIM:260555": "PARTINGTON-ANDERSON SYNDROME", "OMIM:260900": "PERICARDIAL EFFUSION, CHRONIC", "OMIM:260950": "PERIODONTITIS, CHRONIC", "OMIM:261560": "PFEIFFER-PALM-TELLER SYNDROME", "OMIM:261575": "PHAVER SYNDROME", "OMIM:261660": "REMOVED FROM DATABASE", "OMIM:262020": "PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS", "OMIM:262900": "PLEOCONIAL MYOPATHY WITH SALT CRAVING", "OMIM:263100": "POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS", "OMIM:263540": "POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES", "OMIM:264010": "PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY", "OMIM:264475": "PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES", "OMIM:264810": "REMOVED FROM DATABASE", "OMIM:264900": "COAGULATION FACTOR XI; F11", "OMIM:265140": "PULMONARY ARTERIOVENOUS FISTULAS", "OMIM:265600": "PULMONIC STENOSIS AND CONGENITAL NEPHROSIS", "OMIM:266300": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2", "OMIM:266910": "RENAL DYSPLASIA-LIMB DEFECTS SYNDROME", "OMIM:267480": "RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA", "OMIM:268040": "RETINOHEPATOENDOCRINOLOGIC SYNDROME", "OMIM:268050": "MIRHOSSEINI-HOLMES-WALTON SYNDROME", "OMIM:268080": "RETINOSCHISIS OF FOVEA", "OMIM:268240": "RHEUMATIC FEVER-RELATED ANTIGEN", "OMIM:268315": "ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION; RCDFRD", "OMIM:268500": "ROWLEY-ROSENBERG SYNDROME", "OMIM:269720": "SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE", "OMIM:269800": "SENILE PLAQUE FORMATION", "OMIM:269870": "SHORT STATURE-OBESITY SYNDROME; SSOS", "OMIM:270220": "SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT", "OMIM:270500": "ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:270805": "SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY", "OMIM:270900": "SPASTIC PSEUDOSCLEROSIS", "OMIM:271270": "SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM", "OMIM:271322": "SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM", "OMIM:271950": "SUBAORTIC STENOSIS, MEMBRANOUS", "OMIM:271960": "SUBAORTIC STENOSIS--SHORT STATURE SYNDROME", "OMIM:272100": "SUDANOPHILIC CEREBRAL SCLEROSIS", "OMIM:272370": "SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1", "OMIM:272600": "TAPETORETINAL DEGENERATION WITH ATAXIA", "OMIM:272980": "TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR", "OMIM:273490": "THALAMIC DEGENERATION, SYMMETRIC INFANTILE", "OMIM:273600": "THALIDOMIDE SUSCEPTIBILITY", "OMIM:273730": "THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME", "OMIM:274180": "THROMBOXANE A SYNTHASE 1; TBXAS1", "OMIM:274210": "THYMIC APLASIA WITH FETAL DEATH", "OMIM:275230": "TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS", "OMIM:275360": "TREHALASE; TREH", "OMIM:275450": "TRICHOODONTOONYCHIAL DYSPLASIA WITH BONE DEFICIENCY", "OMIM:275595": "TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET", "OMIM:275600": "REMOVED FROM DATABASE", "OMIM:276000": "PROTEASE, SERINE, 1; PRSS1", "OMIM:276400": "TWINNING, DIZYGOTIC", "OMIM:276410": "TWINNING, MONOZYGOTIC", "OMIM:276903": "MYOSIN VIIA; MYO7A", "OMIM:277465": "VITILIGO, PROGRESSIVE, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND URETHRAL DUPLICATION", "OMIM:278900": "XYLOSIDASE DEFICIENCY", "OMIM:300001": "ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY", "OMIM:300002": "ARYLSULFATASE D; ARSD", "OMIM:300003": "ARYLSULFATASE F; ARSF", "OMIM:300005": "METHYL-CpG-BINDING PROTEIN 2; MECP2", "OMIM:300006": "CENTRIN 2; CETN2", "OMIM:300007": "INTERLEUKIN 9 RECEPTOR; IL9R", "OMIM:300008": "CHLORIDE CHANNEL 5; CLCN5", "OMIM:300010": "A-11 GENE; A11", "OMIM:300011": "ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A", "OMIM:300012": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 1; SMARCA1", "OMIM:300013": "N-ALPHA-ACETYLTRANSFERASE 10, NatA CATALYTIC SUBUNIT; NAA10", "OMIM:300014": "ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 3; ATP2B3", "OMIM:300015": "ACETYLSEROTONIN METHYLTRANSFERASE, X-CHROMOSOMAL; ASMT", "OMIM:300016": "MELANOMA ANTIGEN, FAMILY A, 1; MAGEA1", "OMIM:300017": "FILAMIN A; FLNA", "OMIM:300019": "HOST CELL FACTOR C1; HCFC1", "OMIM:300022": "PLEXIN A3; PLXNA3", "OMIM:300023": "RHO GTPase-ACTIVATING PROTEIN 4; ARHGAP4", "OMIM:300024": "ZINC FINGER PROTEIN 157; ZNF157", "OMIM:300025": "CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 4; CDX4", "OMIM:300026": "NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 2; NAP1L2", "OMIM:300027": "RNA-BINDING MOTIF PROTEIN 3; RBM3", "OMIM:300028": "ZINC FINGER-, CCCH DOMAIN-, AND RNA-BINDING MOTIF-CONTAINING SERINE/ARGININE-RICH PROTEIN 2; ZRSR2", "OMIM:300031": "FAMILY WITH SEQUENCE SIMILARITY 11, MEMBER A; FAM11A", "OMIM:300032": "ATRX CHROMATIN REMODELER; ATRX", "OMIM:300033": "FORKHEAD BOX O4; FOXO4", "OMIM:300034": "ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2", "OMIM:300035": "EPHRIN B1; EFNB1", "OMIM:300036": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8", "OMIM:300037": "GLYPICAN 3; GPC3", "OMIM:300038": "PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 4; P2RY4", "OMIM:300039": "POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4", "OMIM:300040": "STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A", "OMIM:300041": "GUANYLATE CYCLASE 2F, RETINAL; GUCY2F", "OMIM:300044": "TRANSKETOLASE-LIKE 1; TKTL1", "OMIM:300050": "UBIQUITIN-SPECIFIC PROTEASE 11; USP11", "OMIM:300051": "GLYCOPROTEIN M6B; GPM6B", "OMIM:300052": "DYSTROPHIN-RELATED PROTEIN 2; DRP2", "OMIM:300053": "VESICLE-ASSOCIATED MEMBRANE PROTEIN 7: VAMP7", "OMIM:300054": "BODY LENGTH, MOUSE, HUMAN HOMOLOG", "OMIM:300056": "HOLOCYTOCHROME C SYNTHASE; HCCS", "OMIM:300059": "TRANSMEMBRANE PROTEIN 187; TMEM187", "OMIM:300060": "L ANTIGEN FAMILY, MEMBER 3; LAGE3", "OMIM:300061": "ZINC FINGER, MYM-TYPE 3; ZMYM3", "OMIM:300064": "HYDE-FORSTER SYNDROME", "OMIM:300065": "CENTROMERIC PROTEIN I; CENPI", "OMIM:300070": "FIBROBLAST GROWTH FACTOR 13; FGF13", "OMIM:300072": "UBIQUITIN-SPECIFIC PROTEASE 9, X-LINKED; USP9X", "OMIM:300074": "X CHROMOSOME-CONTROLLING ELEMENT; XCE", "OMIM:300075": "RIBOSOMAL PROTEIN S6 KINASE A3; RPS6KA3", "OMIM:300078": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A1; NDUFA1", "OMIM:300079": "INHIBITOR OF APOPTOSIS, X-LINKED; XIAP", "OMIM:300080": "RNA-BINDING MOTIF PROTEIN 10; RBM10", "OMIM:300081": "DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1", "OMIM:300083": "PROTEIN KINASE, X-LINKED; PRKX", "OMIM:300084": "NON-POU DOMAIN-CONTAINING OCTAMER-BINDING PROTEIN; NONO", "OMIM:300086": "LYSOPHOSPHATIDIC ACID RECEPTOR 4; LPAR4", "OMIM:300087": "X INACTIVATION, FAMILIAL SKEWED, 1; SXI1", "OMIM:300089": "ISOCITRATE DEHYDROGENASE, NAD(+), 3, NONCATALYTIC SUBUNIT GAMMA; IDH3G", "OMIM:300090": "SIGNAL SEQUENCE RECEPTOR, DELTA; SSR4", "OMIM:300091": "FOS-INDUCED GROWTH FACTOR; FIGF", "OMIM:300092": "TESTIS-EXPRESSED GENE 28; TEX28", "OMIM:300093": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, EPSILON; GABRE", "OMIM:300095": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 2; SLC16A2", "OMIM:300096": "TETRASPANIN 7; TSPAN7", "OMIM:300097": "MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1", "OMIM:300098": "MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2", "OMIM:300101": "BONE MARROW KINASE, X-LINKED; BMX", "OMIM:300102": "PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 4; PNPLA4", "OMIM:300103": "SHROOM FAMILY MEMBER 2; SHROOM2", "OMIM:300104": "GDP DISSOCIATION INHIBITOR 1; GDI1", "OMIM:300105": "SPERMINE SYNTHASE; SMS", "OMIM:300107": "BOMBESIN-LIKE RECEPTOR 3; BRS3", "OMIM:300108": "DIAPHANOUS-RELATED FORMIN 2; DIAPH2", "OMIM:300109": "PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 1; PPEF1", "OMIM:300110": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F", "OMIM:300111": "PRICKLE PLANAR CELL POLARITY PROTEIN 3; PRICKLE3", "OMIM:300112": "PROTEOLIPID PROTEIN 2; PLP2", "OMIM:300113": "X-LINKED B CELL SURFACE ANTIGEN, MOUSE, HOMOLOG-LIKE 1; XLRL", "OMIM:300116": "MATURE T-CELL PROLIFERATION 1; MTCP1", "OMIM:300117": "NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 3; NAP1L3", "OMIM:300118": "RHO GTPase-ACTIVATING PROTEIN 6; ARHGAP6", "OMIM:300119": "INTERLEUKIN 13 RECEPTOR, ALPHA-1; IL13RA1", "OMIM:300120": "MASTERMIND-LIKE DOMAIN-CONTAINING PROTEIN 1; MAMLD1", "OMIM:300121": "DOUBLECORTIN; DCX", "OMIM:300124": "GTP-BINDING PROTEIN 6; GTPBP6", "OMIM:300126": "DYSKERIN; DKC1", "OMIM:300127": "OLIGOPHRENIN 1; OPHN1", "OMIM:300128": "LYSINE DEMETHYLASE 6A; KDM6A", "OMIM:300129": "HEMATOPOIETIC STEM CELL KINETICS, CONTROL OF", "OMIM:300130": "INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2", "OMIM:300131": "PLASTIN 3; PLS3", "OMIM:300132": "TROPHININ; TRO", "OMIM:300133": "VON HIPPEL-LINDAU BINDING PROTEIN 1; VBP1", "OMIM:300134": "DUAL-SPECIFICITY PHOSPHATASE 9; DUSP9", "OMIM:300135": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7", "OMIM:300136": "TYPE 1 DIABETES MELLITUS, X-LINKED, SUSCEPTIBILITY TO; T1DX", "OMIM:300137": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 1; IGSF1", "OMIM:300138": "CHLORIDE INTRACELLULAR CHANNEL 2; CLIC2", "OMIM:300139": "IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1", "OMIM:300142": "p21 PROTEIN-ACTIVATED KINASE 3; PAK3", "OMIM:300144": "GLUTAMATE DEHYDROGENASE 2; GLUD2", "OMIM:300145": "X-PROLYL AMINOPEPTIDASE 2; XPNPEP2", "OMIM:300146": "CALPAIN 6; CAPN6", "OMIM:300149": "CBP/p300-INTERACTING TRANSACTIVATOR WITH GLU/ASP-RICH C-TERMINAL DOMAIN, 1; CITED1", "OMIM:300150": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER A5; SLC25A5", "OMIM:300151": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER A6; SLC25A6", "OMIM:300152": "MELANOMA ANTIGEN, FAMILY B, 3; MAGEB3", "OMIM:300153": "MELANOMA ANTIGEN, FAMILY B, 4; MAGEB4", "OMIM:300154": "ESX1-LIKE PROTEIN; ESX1L", "OMIM:300156": "CANCER/TESTIS ANTIGEN 1B; CTAG1B", "OMIM:300157": "ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 4; ACSL4", "OMIM:300159": "THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X", "OMIM:300160": "DEAD-BOX HELICASE 3, X-LINKED; DDX3X", "OMIM:300161": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3", "OMIM:300162": "ACETYLSEROTONIN METHYLTRANSFERASE-LIKE; ASMTL", "OMIM:300163": "FOUR-AND-A-HALF LIM DOMAINS 1; FHL1", "OMIM:300164": "INACTIVATION ESCAPE 1; INE1", "OMIM:300165": "INACTIVATION ESCAPE 2; INE2", "OMIM:300167": "HEPHAESTIN; HEPH", "OMIM:300168": "GLYPICAN 4; GPC4", "OMIM:300169": "APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 1; AIFM1", "OMIM:300170": "OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1", "OMIM:300171": "MYOTUBULARIN-RELATED PROTEIN 1; MTMR1", "OMIM:300172": "CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK", "OMIM:300173": "MELANOMA ANTIGEN, FAMILY A, 2; MAGEA2", "OMIM:300174": "MELANOMA ANTIGEN, FAMILY A, 3; MAGEA3", "OMIM:300175": "MELANOMA ANTIGEN, FAMILY A, 4; MAGEA4", "OMIM:300176": "MELANOMA ANTIGEN, FAMILY A, 6; MAGEA6", "OMIM:300177": "MELANOMA ANTIGEN, FAMILY A, 12; MAGEA12", "OMIM:300178": "ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 1; ZBED1", "OMIM:300179": "X INACTIVATION, FAMILIAL SKEWED, 2; SXI2", "OMIM:300180": "ARYLSULFATASE L; ARSL", "OMIM:300181": "X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX", "OMIM:300182": "MEDIATOR COMPLEX SUBUNIT 14; MED14", "OMIM:300184": "HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES", "OMIM:300185": "A-KINASE ANCHOR PROTEIN 4; AKAP4", "OMIM:300186": "EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, X-LINKED; EIF1AX", "OMIM:300187": "SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED; SRPX", "OMIM:300188": "MEDIATOR COMPLEX SUBUNIT 12; MED12", "OMIM:300189": "DISCS LARGE MAGUK SCAFFOLD PROTEIN 3; DLG3", "OMIM:300190": "SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN; SH3BGRL", "OMIM:300191": "TETRASPANIN 6; TSPAN6", "OMIM:300192": "SARCOMA, SYNOVIAL, X BREAKPOINT 2; SSX2", "OMIM:300193": "HIGH MOBILITY GROUP BOX 3; HMGB3", "OMIM:300195": "AMMECR NUCLEAR PROTEIN 1; AMMECR1", "OMIM:300196": "TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X", "OMIM:300197": "ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 1; ATP6AP1", "OMIM:300198": "GLYCOGENIN 2; GYG2", "OMIM:300199": "RNA-BINDING MOTIF PROTEIN, X CHROMOSOME; RBMX", "OMIM:300201": "CYSTEINYL LEUKOTRIENE RECEPTOR 1; CYSLTR1", "OMIM:300202": "TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2", "OMIM:300203": "CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5", "OMIM:300204": "MIDLINE 2; MID2", "OMIM:300205": "EMOPAMIL-BINDING PROTEIN; EBP", "OMIM:300206": "INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1", "OMIM:300207": "G PROTEIN-COUPLED RECEPTOR 50; GPR50", "OMIM:300208": "SCM POLYCOMB GROUP PROTEIN-LIKE 2; SCML2", "OMIM:300212": "REGUCALCIN; RGN", "OMIM:300213": "RETROTRANSPOSON GAG-LIKE 8C; RTL8C", "OMIM:300214": "PLEXIN B3; PLXNB3", "OMIM:300217": "RETINOIC ACID-INDUCED 2; RAI2", "OMIM:300221": "LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL", "OMIM:300222": "INTEGRAL MEMBRANE PROTEIN 2A; ITM2A", "OMIM:300223": "MELANOMA ANTIGEN, FAMILY C, 1; MAGEC1", "OMIM:300224": "MELANOMA ANTIGEN, FAMILY D, 1; MAGED1", "OMIM:300225": "NADPH OXIDASE 1; NOX1", "OMIM:300226": "SMALL MUSCLE PROTEIN, X-LINKED; SMPX", "OMIM:300227": "SCM POLYCOMB GROUP PROTEIN-LIKE 1; SCML1", "OMIM:300229": "VARIABLY CHARGED, X CHROMOSOME; VCX", "OMIM:300230": "CARBONIC ANHYDRASE VB, MITOCHONDRIAL; CA5B", "OMIM:300231": "SOLUTE CARRIER FAMILY 9, MEMBER 6; SLC9A6", "OMIM:300233": "RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES, AND SEVERE MALFORMATIONS IN THE MALE", "OMIM:300234": "UBIQUITOUSLY EXPRESSED TRANSCRIPT; UXT", "OMIM:300235": "ZINC FINGER-ENCODING GENE, X-LINKED, DUPLICATED, A; ZXDA", "OMIM:300236": "ZINC FINGER-ENCODING GENE, X-LINKED, DUPLICATED, B; ZXDB", "OMIM:300237": "TRANSCRIPTION ELONGATION FACTOR A-LIKE 1; TCEAL1", "OMIM:300239": "EPIDERMAL GROWTH FACTOR-LIKE 6; EGFL6", "OMIM:300241": "G PROTEIN-COUPLED RECEPTOR 34; GPR34", "OMIM:300242": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, BRAIN), MEMBER 14; SLC25A14", "OMIM:300246": "PROTOCADHERIN 11, X-LINKED; PCDH11X", "OMIM:300247": "BONE MORPHOGENETIC PROTEIN 15; BMP15", "OMIM:300248": "INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE, REGULATORY SUBUNIT GAMMA; IKBKG", "OMIM:300249": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17B; TIMM17B", "OMIM:300252": "PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 4; PIN4", "OMIM:300253": "G PROTEIN-COUPLED RECEPTOR 173; GPR173", "OMIM:300254": "SUV39H1 HISTONE LYSINE METHYLTRANSFERASE; SUV39H1", "OMIM:300255": "O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT", "OMIM:300256": "17-BETA-HYDROXYSTEROID DEHYDROGENASE X; HSD17B10", "OMIM:300259": "MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED", "OMIM:300264": "UBIQUILIN 2; UBQLN2", "OMIM:300265": "ZIC FAMILY, MEMBER 3; ZIC3", "OMIM:300267": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6", "OMIM:300269": "HISTONE DEACETYLASE 8; HDAC8", "OMIM:300270": "ADRENOMYODYSTROPHY", "OMIM:300272": "HISTONE DEACETYLASE 6; HDAC6", "OMIM:300275": "NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL", "OMIM:300276": "ECTODYSPLASIN A2 RECEPTOR; EDA2R", "OMIM:300277": "INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 2; IL1RAPL2", "OMIM:300278": "NYCTALOPIN; NYX", "OMIM:300281": "POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 1; KCND1", "OMIM:300282": "ECTO-NOX DISULFIDE-THIOL EXCHANGER 2; ENOX2", "OMIM:300283": "INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1; IRAK1", "OMIM:300284": "RAS-ASSOCIATED PROTEIN RAB9; RAB9", "OMIM:300285": "RAS-ASSOCIATED PROTEIN 9B; RAB9B", "OMIM:300286": "KRUPPEL-LIKE FACTOR 8; KLF8", "OMIM:300287": "P ANTIGEN FAMILY, MEMBER 4; PAGE4", "OMIM:300288": "P ANTIGEN FAMILY, MEMBER 1; PAGE1", "OMIM:300289": "X ANTIGEN FAMILY, MEMBER 1B; XAGE1B", "OMIM:300292": "FORKHEAD BOX P3; FOXP3", "OMIM:300294": "MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 2; MBTPS2", "OMIM:300295": "PIM2 PROTOONCOGENE, SERINE/THREONINE KINASE; PIM2", "OMIM:300296": "PLACENTA-SPECIFIC GENE 1; PLAC1", "OMIM:300297": "APELIN; APLN", "OMIM:300298": "UPF3B REGULATOR OF NONSENSE-MEDIATED mRNA DECAY; UPF3B", "OMIM:300300": "BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK", "OMIM:300302": "DYNEIN, LIGHT CHAIN, TCTEX TYPE, 3; DYNLT3", "OMIM:300303": "RIBOSOMAL PROTEIN S6 KINASE A6; RPS6KA6", "OMIM:300304": "CULLIN 4B; CUL4B", "OMIM:300305": "SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER A1; SPANXA1", "OMIM:300306": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11; BMIQ11", "OMIM:300307": "T-BOX TRANSCRIPTION FACTOR 22; TBX22", "OMIM:300308": "FERRITIN HEAVY POLYPEPTIDE-LIKE 17; FTHL17", "OMIM:300309": "UBIQUITIN-SPECIFIC PROTEASE 26; USP26", "OMIM:300311": "TESTIS-EXPRESSED GENE 11; TEX11", "OMIM:300312": "TESTIS-EXPRESSED GENE 13A; TEX13A", "OMIM:300313": "TESTIS-EXPRESSED GENE 13B; TEX13B", "OMIM:300314": "TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 7-LIKE; TAF7L", "OMIM:300315": "NUCLEAR RNA EXPORT FACTOR 2; NXF2", "OMIM:300316": "NUCLEAR RNA EXPORT FACTOR 3; NXF3", "OMIM:300317": "RALBP1-ASSOCIATED EPS DOMAIN-CONTAINING PROTEIN 2; REPS2", "OMIM:300318": "NUCLEAR RNA EXPORT FACTOR 4; NXF4", "OMIM:300319": "NUCLEAR RNA EXPORT FACTOR 5; NXF5", "OMIM:300320": "NTF2-LIKE EXPORT FACTOR 2; NXT2", "OMIM:300325": "SYNOVIAL SARCOMA, X BREAKPOINT 3; SSX3", "OMIM:300326": "SYNOVIAL SARCOMA, X BREAKPOINT 4; SSX4", "OMIM:300327": "SYNOVIAL SARCOMA, X BREAKPOINT 5; SSX5", "OMIM:300328": "POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED FAMILY, MEMBER 1-LIKE; KCNE1L", "OMIM:300329": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 33; ZBTB33", "OMIM:300330": "SPANX FAMILY, MEMBER C; SPANXC", "OMIM:300332": "INTEGRIN, BETA-1, BINDING PROTEIN OF, 2; ITGB1BP2", "OMIM:300333": "RAS-ASSOCIATED PROTEIN RAB33A; RAB33A", "OMIM:300334": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 5; TRPC5", "OMIM:300335": "ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2", "OMIM:300336": "NEUROLIGIN 3; NLGN3", "OMIM:300338": "CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-2; CNGA2", "OMIM:300339": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, BETA; PPP2R3B", "OMIM:300340": "MELANOMA ANTIGEN, FAMILY A, 5; MAGEA5", "OMIM:300341": "MELANOMA ANTIGEN, FAMILY A, 8; MAGEA8", "OMIM:300342": "MELANOMA ANTIGEN, FAMILY A, 9; MAGEA9", "OMIM:300343": "MELANOMA ANTIGEN, FAMILY A, 10; MAGEA10", "OMIM:300344": "MELANOMA ANTIGEN, FAMILY A, 11; MAGEA11", "OMIM:300345": "MICROPHTHALMIA/COLOBOMA 1; MCOPCB1", "OMIM:300346": "HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1", "OMIM:300347": "DIAPH2 ANTISENSE RNA 1; DIAPH2AS1", "OMIM:300348": "KELCH-LIKE 4; KLHL4", "OMIM:300349": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, THETA; GABRQ", "OMIM:300350": "CHORDIN-LIKE 1; CHRDL1", "OMIM:300351": "GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1", "OMIM:300353": "V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 4; VSIG4", "OMIM:300356": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8A; TIMM8A", "OMIM:300357": "CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2", "OMIM:300358": "PROTEIN KINASE, LYSINE-DEFICIENT 3; WNK3", "OMIM:300359": "SARCOMA ANTIGEN 1; SAGE1", "OMIM:300361": "NERVE GROWTH FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; NGFRAP1", "OMIM:300362": "ARMADILLO REPEAT-CONTAINING PROTEIN, X-LINKED 1; ARMCX1", "OMIM:300363": "ARMADILLO REPEAT-CONTAINING PROTEIN, X-LINKED 2; ARMCX2", "OMIM:300364": "ARMADILLO REPEAT-CONTAINING PROTEIN, X-LINKED 3; ARMCX3", "OMIM:300365": "TOLL-LIKE RECEPTOR 7; TLR7", "OMIM:300366": "TOLL-LIKE RECEPTOR 8; TLR8", "OMIM:300368": "SOLUTE CARRIER FAMILY 9, MEMBER 7; SLC9A7", "OMIM:300369": "GERM CELL NUCLEAR ACIDIC PEPTIDASE; GCNA", "OMIM:300370": "3-PRIME REPAIR EXONUCLEASE 2; TREX2", "OMIM:300371": "ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1", "OMIM:300372": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 42; XLID42", "OMIM:300374": "SH3-DOMAIN KINASE-BINDING PROTEIN 1; SH3KBP1", "OMIM:300375": "CARBOHYDRATE SULFOTRANSFERASE 7; CHST7", "OMIM:300377": "DYSTROPHIN; DMD", "OMIM:300378": "RADIAL RAY DEFICIENCY, X-LINKED", "OMIM:300379": "RING FINGER PROTEIN, LIM DOMAIN-INTERACTING; RLIM", "OMIM:300380": "CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2; CTPS2", "OMIM:300381": "ZINC FINGER PROTEIN 185; ZNF185", "OMIM:300382": "ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX", "OMIM:300383": "COMPLEMENT FACTOR PROPERDIN; CFP", "OMIM:300384": "EMERIN; EMD", "OMIM:300385": "NUCLEOSOMAL BINDING PROTEIN 1; NSBP1", "OMIM:300386": "CD40 LIGAND; CD40LG", "OMIM:300390": "CHM RAB ESCORT PROTEIN; CHM", "OMIM:300391": "AMELOGENIN; AMELX", "OMIM:300392": "WASP ACTIN NUCLEATION PROMOTING FACTOR; WAS", "OMIM:300393": "G PROTEIN-COUPLED RECEPTOR 101; GPR101", "OMIM:300394": "TAFAZZIN, PHOSPHOLIPID-LYSOPHOSPHOLIPID TRANSACYLASE; TAFAZZIN", "OMIM:300395": "THO COMPLEX, SUBUNIT 2; THOC2", "OMIM:300396": "CANCER/TESTIS ANTIGEN 2; CTAG2", "OMIM:300398": "B-CELL RECEPTOR-ASSOCIATED PROTEIN 31; BCAP31", "OMIM:300399": "PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1, INHIBITOR OF; PCSK1N", "OMIM:300401": "PROTEOLIPID PROTEIN 1; PLP1", "OMIM:300402": "LEUCINE ZIPPER, DOWNREGULATED IN CANCER 1; LDOC1", "OMIM:300403": "NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 11; NDUFB11", "OMIM:300405": "RAS-ASSOCIATED PROTEIN RAB40A-LIKE; RAB40AL", "OMIM:300406": "FG SYNDROME 3; FGS3", "OMIM:300407": "POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 5; PABPC5", "OMIM:300408": "GRIP1-ASSOCIATED PROTEIN 1; GRIPAP1", "OMIM:300409": "MORTALITY FACTOR 4-LIKE PROTEIN 2; MORF4L2", "OMIM:300410": "ANGIOMOTIN; AMOT", "OMIM:300411": "TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, X-LINKED; TGIF2LX", "OMIM:300413": "MUSCLEBLIND-LIKE SPLICING REGULATOR 3; MBNL3", "OMIM:300414": "PHD FINGER PROTEIN 6; PHF6", "OMIM:300415": "MYOTUBULARIN; MTM1", "OMIM:300416": "X ANTIGEN FAMILY, MEMBER 2; XAGE2", "OMIM:300417": "G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN 1; GPRASP1", "OMIM:300418": "G1- TO S-PHASE TRANSITION 2; GSPT2", "OMIM:300420": "PRAJA RING FINGER UBIQUITIN LIGASE 1; PJA1", "OMIM:300427": "NEUROLIGIN 4, X-LINKED; NLGN4X", "OMIM:300429": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9", "OMIM:300431": "ATKIN-FLAITZ SYNDROME", "OMIM:300435": "PROGESTERONE RECEPTOR MEMBRANE COMPONENT 1; PGRMC1", "OMIM:300437": "EMBRYONIC STEM CELL-EXPRESSED RAS; ERAS", "OMIM:300439": "RING FINGER PROTEIN 128; RNF128", "OMIM:300440": "NFKB-REPRESSING FACTOR; NKRF", "OMIM:300441": "SAM- AND SH3 DOMAIN-CONTAINING PROTEIN 3; SASH3", "OMIM:300443": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 3; SLC7A3", "OMIM:300444": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 14; SLC6A14", "OMIM:300445": "H2A.B VARIANT HISTONE 3; H2AB3", "OMIM:300446": "RHOX HOMEOBOX FAMILY, MEMBER 1; RHOXF1", "OMIM:300447": "RHOX HOMEOBOX FAMILY, MEMBER 2; RHOXF2", "OMIM:300450": "FETAL AND ADULT TESTIS-EXPRESSED GENE 1; FATE1", "OMIM:300451": "ECTODYSPLASIN A; EDA", "OMIM:300452": "INHIBITOR OF GROWTH, X-LINKED; INGX", "OMIM:300453": "FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER A; FAM50A", "OMIM:300456": "CYCLIN B3; CCNB3", "OMIM:300457": "NHS ACTIN REMODELING REGULATOR; NHS", "OMIM:300459": "TENOMODULIN; TNMD", "OMIM:300460": "PROTOCADHERIN 19; PCDH19", "OMIM:300461": "ORNITHINE CARBAMOYLTRANSFERASE; OTC", "OMIM:300462": "A-KINASE ANCHOR PROTEIN 14; AKAP14", "OMIM:300463": "POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1", "OMIM:300464": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3", "OMIM:300466": "MELANOMA ANTIGEN, FAMILY B, 5; MAGEB5", "OMIM:300467": "MELANOMA ANTIGEN, FAMILY B, 6; MAGEB6", "OMIM:300468": "MELANOMA ANTIGEN, FAMILY C, 2; MAGEC2", "OMIM:300469": "MELANOMA ANTIGEN, FAMILY C, 3; MAGEC3", "OMIM:300470": "MELANOMA ANTIGEN, FAMILY D, 2; MAGED2", "OMIM:300473": "NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1", "OMIM:300474": "GLYCEROL KINASE; GK", "OMIM:300477": "FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER A; FAM9A", "OMIM:300478": "FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER B; FAM9B", "OMIM:300479": "FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER C; FAM9C", "OMIM:300480": "TAK1-BINDING PROTEIN 3; TAB3", "OMIM:300481": "CYTOCHROME b(-245), BETA SUBUNIT; CYBB", "OMIM:300482": "GRB2-ASSOCIATED BINDING PROTEIN 3; GAB3", "OMIM:300485": "BCL6 COREPRESSOR; BCOR", "OMIM:300487": "ACTIN-RELATED PROTEIN T1; ACTRT1", "OMIM:300488": "MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1", "OMIM:300490": "SH2 DOMAIN PROTEIN 1A; SH2D1A", "OMIM:300492": "FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER A; FAM3A", "OMIM:300493": "SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER A2; SPANXA2", "OMIM:300499": "FTSJ RNA 2-PRIME-O-METHYLTRANSFERASE 1; FTSJ1", "OMIM:300502": "PYRUVATE DEHYDROGENASE E1, SUBUNIT ALPHA-1; PDHA1", "OMIM:300506": "TSC22 DOMAIN FAMILY, MEMBER 3; TSC22D3", "OMIM:300507": "H2B HISTONE FAMILY, MEMBER W, TESTIS-SPECIFIC; H2BFWT", "OMIM:300508": "UTP14A SMALL SUBUNIT PROCESSOME COMPONENT; UTP14A", "OMIM:300509": "DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9", "OMIM:300512": "WD REPEAT-CONTAINING PROTEIN 13; WDR13", "OMIM:300513": "G PROTEIN-COUPLED RECEPTOR 119; GPR119", "OMIM:300515": "FANCB GENE; FANCB", "OMIM:300516": "ATPase, CLASS VI, TYPE 11C; ATP11C", "OMIM:300517": "SPINDLIN FAMILY, MEMBER 2B; SPIN2B", "OMIM:300520": "CLAUDIN 2; CLDN2", "OMIM:300521": "KINESIN FAMILY MEMBER 4A; KIF4A", "OMIM:300522": "IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 2; IQSEC2", "OMIM:300524": "NEURITE EXTENSION AND MIGRATION FACTOR; NEXMIF", "OMIM:300525": "PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 8; P2RY8", "OMIM:300526": "WD REPEAT-CONTAINING PROTEIN 45; WDR45", "OMIM:300527": "NUDIX HYDROLASE 10; NUDT10", "OMIM:300528": "NUDIX HYDROLASE 11; NUDT11", "OMIM:300529": "PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 10; P2RY10", "OMIM:300531": "SPROUTY RTK SIGNALING ANTAGONIST 3; SPRY3", "OMIM:300532": "VARIABLY CHARGED, X CHROMOSOME, 2; VCX2", "OMIM:300533": "VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A", "OMIM:300535": "OCRL INOSITOL POLYPHOSPHATE-5-PHOSPHATASE; OCRL", "OMIM:300536": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 4; BMND4", "OMIM:300538": "ARGININE VASOPRESSIN RECEPTOR 2; AVPR2", "OMIM:300540": "HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 7; HAUS7", "OMIM:300541": "SARCOMA, SYNOVIAL, X BREAKPOINT 6; SSX6", "OMIM:300542": "SARCOMA, SYNOVIAL, X BREAKPOINT 7; SSX7", "OMIM:300543": "SARCOMA, SYNOVIAL, X BREAKPOINT 8; SSX8", "OMIM:300544": "SARCOMA, SYNOVIAL, X BREAKPOINT 9; SSX9", "OMIM:300545": "HEPARAN SULFATE 6-O-SULFOTRANSFERASE 2; HS6ST2", "OMIM:300546": "FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1; FGD1", "OMIM:300547": "SERINE/THREONINE KINASE 26; STK26", "OMIM:300548": "MELANOMA ANTIGEN, FAMILY H, 1; MAGEH1", "OMIM:300549": "MELANOMA ANTIGEN, FAMILY A, 2B; MAGEA2B", "OMIM:300550": "PHOSPHATE-REGULATING ENDOPEPTIDASE, X-LINKED; PHEX", "OMIM:300552": "MIDLINE 1; MID1", "OMIM:300553": "BROMODOMAIN- AND WD REPEAT-CONTAINING PROTEIN 3; BRWD3", "OMIM:300556": "ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2", "OMIM:300557": "PARKINSON DISEASE 12; PARK12", "OMIM:300560": "PHD FINGER PROTEIN 8; PHF8", "OMIM:300561": "SLIT- AND NTRK-LIKE FAMILY, MEMBER 2; SLITRK2", "OMIM:300562": "SLIT- AND NTRK-LIKE FAMILY, MEMBER 4; SLITRK4", "OMIM:300564": "TSPY-LIKE 2; TSPYL2", "OMIM:300566": "LHFPL TETRASPAN SUBFAMILY, MEMBER 1; LHFPL1", "OMIM:300567": "PHOSPHOGLYCERATE MUTASE FAMILY MEMBER 4; PGAM4", "OMIM:300568": "MICRO RNA 221; MIR221", "OMIM:300569": "MICRO RNA 222; MIR222", "OMIM:300570": "TRANSCRIPTION FACTOR YY2; YY2", "OMIM:300572": "ADHESION G PROTEIN-COUPLED RECEPTOR G2; ADGRG2", "OMIM:300573": "ZINC FINGER PROTEIN 674; ZNF674", "OMIM:300574": "CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3", "OMIM:300575": "RIPPLY TRANSCRIPTIONAL REPRESSOR 1; RIPPLY1", "OMIM:300576": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 15; ZDHHC15", "OMIM:300579": "SHROOM FAMILY MEMBER 4; SHROOM4", "OMIM:300581": "FG SYNDROME 5; FGS5", "OMIM:300583": "VESTIGIAL-LIKE 1; VGLL1", "OMIM:300585": "ZINC FINGER PROTEIN 673; ZNF673", "OMIM:300586": "ARYLSULFATASE H; ARSH", "OMIM:300587": "MALIGNANT T-CELL AMPLIFIED SEQUENCE 1; MCTS1", "OMIM:300588": "TENEURIN TRANSMEMBRANE PROTEIN 1; TENM1", "OMIM:300591": "STATURE QUANTITATIVE TRAIT LOCUS 6; STQTL6", "OMIM:300592": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A11; CT47A11", "OMIM:300593": "SPERM ACROSOME-ASSOCIATED PROTEIN 5; SPACA5", "OMIM:300594": "G ANTIGEN 1; GAGE1", "OMIM:300595": "G ANTIGEN 2C; GAGE2C", "OMIM:300596": "G ANTIGEN 3; GAGE3", "OMIM:300597": "G ANTIGEN 4; GAGE4", "OMIM:300598": "G ANTIGEN 5; GAGE5", "OMIM:300599": "G ANTIGEN 6; GAGE6", "OMIM:300601": "G ANTIGEN 7; GAGE7", "OMIM:300603": "POF1B ACTIN-BINDING PROTEIN; POF1B", "OMIM:300605": "RETINITIS PIGMENTOSA 34; RP34", "OMIM:300608": "DACHSHUND FAMILY TRANSCRIPTION FACTOR 2; DACH2", "OMIM:300609": "MSL COMPLEX SUBUNIT 3; MSL3", "OMIM:300610": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRNPH2", "OMIM:300611": "C1GALT1-SPECIFIC CHAPERONE 1; C1GALT1C1", "OMIM:300613": "MYOPIA 13, X-LINKED; MYP13", "OMIM:300616": "LEUCINE ZIPPER PROTEIN 4; LUZP4", "OMIM:300617": "BRCA1/BRCA2-CONTAINING COMPLEX, SUBUNIT 3; BRCC3", "OMIM:300618": "JADE FAMILY PHD FINGER 3; JADE3", "OMIM:300620": "V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 1; VSIG1", "OMIM:300621": "SPINDLIN FAMILY, MEMBER 2A; SPIN2A", "OMIM:300625": "CANCER/TESTIS ANTIGEN 83; CT83", "OMIM:300626": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 11; ASB11", "OMIM:300627": "ZINC FINGER PROTEIN 449; ZNF449", "OMIM:300628": "FERM DOMAIN-CONTAINING PROTEIN 7; FRMD7", "OMIM:300629": "ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-2 SUBUNIT; AP1S2", "OMIM:300631": "COLLECTRIN, AMINO ACID TRANSPORT REGULATOR; CLTRN", "OMIM:300632": "PDZ DOMAIN-CONTAINING 11; PDZD11", "OMIM:300634": "PDZ DOMAIN-CONTAINING 4; PDZD4", "OMIM:300637": "G ANTIGEN 12I; GAGE12I", "OMIM:300638": "G ANTIGEN 8; GAGE8", "OMIM:300641": "SOLUTE CARRIER FAMILY 25, MEMBER 43; SLC25A43", "OMIM:300642": "SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2", "OMIM:300644": "GALACTOSIDASE, ALPHA; GLA", "OMIM:300646": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 9; ZDHHC9", "OMIM:300647": "APC MEMBRANE RECRUITMENT PROTEIN 1; AMER1", "OMIM:300648": "CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A1; CT45A1", "OMIM:300649": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 5; SLC38A5", "OMIM:300651": "PORCUPINE O-ACYLTRANSFERASE; PORCN", "OMIM:300654": "FATTY ACID AMIDE HYDROLASE 2; FAAH2", "OMIM:300655": "KELCH-LIKE 13; KLHL13", "OMIM:300656": "URACIL PHOSPHORIBOSYLTRANSFERASE HOMOLOG; UPRT", "OMIM:300657": "CANCER/TESTIS ANTIGEN 1A; CTAG1A", "OMIM:300658": "NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP", "OMIM:300662": "SMALL NUCLEOLAR RNA, H/ACA BOX, 11; SNORA11", "OMIM:300663": "AUTOPHAGY-RELATED 4A CYSTEINE PEPTIDASE; ATG4A", "OMIM:300664": "SPANX FAMILY, MEMBER N1; SPANXN1", "OMIM:300665": "SPANX FAMILY, MEMBER N2; SPANXN2", "OMIM:300666": "SPANX FAMILY, MEMBER N3; SPANXN3", "OMIM:300667": "SPANX FAMILY, MEMBER N4; SPANXN4", "OMIM:300668": "SPANX FAMILY, MEMBER N5; SPANXN5", "OMIM:300669": "SPANX FAMILY, MEMBER B1; SPANXB1", "OMIM:300670": "SPANX FAMILY, MEMBER D; SPANXD", "OMIM:300674": "MOTILE SPERM DOMAIN-CONTAINING PROTEIN 1; MOSPD1", "OMIM:300675": "PARANEOPLASTIC MA ANTIGEN 3; PNMA3", "OMIM:300677": "TAXILIN, GAMMA; TXLNG", "OMIM:300678": "DUAL-SPECIFICITY PHOSPHATASE 21; DUSP21", "OMIM:300679": "CHROMOSOME Xp21 DELETION SYNDROME", "OMIM:300680": "PREGNANCY-UPREGULATED, NONUBIQUITOUS, CAM KINASE; PNCK", "OMIM:300681": "DEDICATOR OF CYTOKINESIS 11; DOCK11", "OMIM:300682": "MICRO RNA 424; MIR424", "OMIM:300683": "SEPTIN 6; SEPT6", "OMIM:300684": "X KELL BLOOD GROUP PRECURSOR-RELATED, X-LINKED; XKRX", "OMIM:300685": "PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 3; PRRG3", "OMIM:300686": "MICRO RNA 448; MIR448", "OMIM:300687": "ERCC EXCISION REPAIR 6-LIKE, SPINDLE ASSEMBLY CHECKPOINT HELICASE; ERCC6L", "OMIM:300688": "BCL6 COREPRESSOR-LIKE 1; BCORL1", "OMIM:300689": "START DOMAIN-CONTAINING PROTEIN 8; STARD8", "OMIM:300690": "BRAIN-EXPRESSED X-LINKED GENE 1; BEX1", "OMIM:300691": "BRAIN-EXPRESSED X-LINKED GENE 2; BEX2", "OMIM:300692": "BEX FAMILY MEMBER 4; BEX4", "OMIM:300693": "BEX FAMILY MEMBER 5; BEX5", "OMIM:300694": "MICRO RNA 223; MIR223", "OMIM:300697": "HECT, UBA, AND WWE DOMAINS-CONTAINING PROTEIN 1; HUWE1", "OMIM:300698": "TRANSMEMBRANE PROTEIN 47; TMEM47", "OMIM:300701": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 12; ZCCHC12", "OMIM:300702": "MELANOMA ANTIGEN, FAMILY D, 4; MAGED4", "OMIM:300704": "PROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2", "OMIM:300708": "CYCLIN Q; CCNQ", "OMIM:300710": "ALOPECIA, ANDROGENETIC, 2; AGA2", "OMIM:300711": "PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4", "OMIM:300713": "OTU DOMAIN-CONTAINING PROTEIN 5; OTUD5", "OMIM:300714": "OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A", "OMIM:300715": "MAGNESIUM TRANSPORTER 1; MAGT1", "OMIM:300720": "G ANTIGEN 2A; GAGE2A", "OMIM:300721": "MICRO RNA LET7F2; MIRLET7F2", "OMIM:300722": "MICRO RNA 19B2; MIR19B2", "OMIM:300723": "SYNAPTOTAGMIN-LIKE 4; SYTL4", "OMIM:300724": "CONNECTOR ENHANCER OF KINASE SUPPRESSOR OF RAS 2; CNKSR2", "OMIM:300725": "RAS-RELATED GTP-BINDING PROTEIN B; RRAGB", "OMIM:300726": "G ANTIGEN 2B; GAGE2B", "OMIM:300727": "G ANTIGEN 12C; GAGE12C", "OMIM:300728": "G ANTIGEN 12D; GAGE12D", "OMIM:300729": "G ANTIGEN 12E; GAGE12E", "OMIM:300730": "G ANTIGEN 12F; GAGE12F", "OMIM:300731": "G ANTIGEN 12G; GAGE12G", "OMIM:300732": "G ANTIGEN 12H; GAGE12H", "OMIM:300733": "G ANTIGEN 12J; GAGE12J", "OMIM:300734": "G ANTIGEN 13; GAGE13", "OMIM:300735": "G ANTIGEN 2D; GAGE2D", "OMIM:300736": "G ANTIGEN 2E; GAGE2E", "OMIM:300737": "G ANTIGEN 10; GAGE10", "OMIM:300738": "P ANTIGEN FAMILY, MEMBER 2; PAGE2", "OMIM:300739": "P ANTIGEN FAMILY, MEMBER 3; PAGE3", "OMIM:300740": "X ANTIGEN FAMILY, MEMBER 3; XAGE3", "OMIM:300741": "FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER C; FAM120C", "OMIM:300742": "X ANTIGEN FAMILY, MEMBER 1A; XAGE1A", "OMIM:300746": "COAGULATION FACTOR IX; F9", "OMIM:300747": "STEROID SULFATASE; STS", "OMIM:300748": "G PROTEIN-COUPLED RECEPTOR 82; GPR82", "OMIM:300753": "APOLIPOPROTEIN O; APOO", "OMIM:300754": "TAF9B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 31-KD; TAF9B", "OMIM:300756": "ALZHEIMER DISEASE 16; AD16", "OMIM:300757": "RP2 ACTIVATOR OF ARL3 GTPase; RP2", "OMIM:300759": "MELANOMA ANTIGEN, FAMILY E, 1; MAGEE1", "OMIM:300760": "MELANOMA ANTIGEN, FAMILY E, 2; MAGEE2", "OMIM:300761": "MELANOMA ANTIGEN, FAMILY B, 10; MAGEB10", "OMIM:300762": "MELANOMA ANTIGEN, FAMILY B, 16; MAGEB16", "OMIM:300763": "MELANOMA ANTIGEN, FAMILY B, 17; MAGEB17", "OMIM:300764": "MELANOMA ANTIGEN, FAMILY A, 9B; MAGEA9B", "OMIM:300765": "MELANOMA ANTIGEN, FAMILY D, 4B; MAGED4B", "OMIM:300766": "NFKB-ACTIVATING PROTEIN; NKAP", "OMIM:300767": "REPLICATION PROTEIN A4; RPA4", "OMIM:300768": "CYLICIN 1; CYLC1", "OMIM:300769": "MICRO RNA 224; MIR224", "OMIM:300771": "TRANSCRIPTION ELONGATION FACTOR A-LIKE 7; TCEAL7", "OMIM:300772": "TRANSCRIPTION FACTOR DP FAMILY, MEMBER 3; TFDP3", "OMIM:300773": "APEX NUCLEASE (APURINIC/APYRIMIDINIC ENDONUCLEASE) 2; APEX2", "OMIM:300774": "RAB39B, MEMBER RAS ONCOGENE FAMILY; RAB39B", "OMIM:300775": "E74-LIKE ETS TRANSCRIPTION FACTOR 4; ELF4", "OMIM:300776": "ALG13 UDP-N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT; ALG13", "OMIM:300777": "EPSILON-TRIMETHYLLYSINE HYDROXYLASE; TMLHE", "OMIM:300780": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A1; CT47A1", "OMIM:300781": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A2; CT47A2", "OMIM:300782": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A3; CT47A3", "OMIM:300783": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A4; CT47A4", "OMIM:300784": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A5; CT47A5", "OMIM:300785": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A6; CT47A6", "OMIM:300786": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A7; CT47A7", "OMIM:300787": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A8; CT47A8", "OMIM:300788": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A9; CT47A9", "OMIM:300789": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A10; CT47A10", "OMIM:300790": "CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER B1; CT47B1", "OMIM:300791": "NIK-RELATED KINASE; NRK", "OMIM:300792": "MICRO RNA 106A; MIR106A", "OMIM:300793": "CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A2; CT45A2", "OMIM:300794": "CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A3; CT45A3", "OMIM:300795": "CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A4; CT45A4", "OMIM:300796": "CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A5; CT45A5", "OMIM:300797": "CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A6; CT45A6", "OMIM:300798": "PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2", "OMIM:300805": "FMR1 ANTISENSE RNA 1; FMR1AS1", "OMIM:300806": "ALF TRANSCRIPTION ELONGATION FACTOR 2; AFF2", "OMIM:300808": "G PROTEIN-COUPLED RECEPTOR 143; GPR143", "OMIM:300809": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 15; SLEB15", "OMIM:300810": "MICRO RNA 98; MIR98", "OMIM:300811": "MICRO RNA 105-1; MIR105-1", "OMIM:300812": "MICRO RNA 105-2; MIR105-2", "OMIM:300815": "CHROMOSOME Xq28 DUPLICATION SYNDROME", "OMIM:300817": "EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 2; EFHC2", "OMIM:300819": "ZINC FINGER PROTEIN 630; ZNF630", "OMIM:300820": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 15; MAP3K15", "OMIM:300821": "OPSIN 1, MEDIUM-WAVE-SENSITIVE; OPN1MW", "OMIM:300822": "OPSIN 1, LONG-WAVE-SENSITIVE; OPN1LW", "OMIM:300823": "IDURONATE 2-SULFATASE; IDS", "OMIM:300824": "OPN1LW AND OPN1MW GENES, CONTROLLER OF", "OMIM:300825": "RETINOBLASTOMA-BINDING PROTEIN 7; RBBP7", "OMIM:300826": "STROMAL ANTIGEN 2; STAG2", "OMIM:300827": "FIBROBLAST GROWTH FACTOR 16; FGF16", "OMIM:300828": "PATCHED DOMAIN-CONTAINING PROTEIN 1; PTCHD1", "OMIM:300829": "CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION", "OMIM:300832": "JUST PROXIMAL TO XIST; JPX", "OMIM:300836": "ANOSMIN 1; ANOS1", "OMIM:300837": "DIACYLGLYCEROL KINASE, KAPPA, 142-KD; DGKK", "OMIM:300838": "FERM AND PDZ DOMAINS-CONTAINING PROTEIN 4; FRMPD4", "OMIM:300839": "RETINOSCHISIN; RS1", "OMIM:300840": "PRA1 DOMAIN FAMILY, MEMBER 2; PRAF2", "OMIM:300841": "COAGULATION FACTOR VIII; F8", "OMIM:300846": "CD99 ANTIGEN-LIKE 2; CD99L2", "OMIM:300847": "AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5", "OMIM:300856": "HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO; HYSP4", "OMIM:300859": "COILED-COIL DOMAIN-CONTAINING PROTEIN 22; CCDC22", "OMIM:300862": "ACYL-CoA THIOESTERASE 9; ACOT9", "OMIM:300864": "CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED", "OMIM:300865": "MICRO RNA 503; MIR503", "OMIM:300866": "MICRO RNA 510; MIR510", "OMIM:300870": "ANEURYSM, INTRACRANIAL BERRY, 5; ANIB5", "OMIM:300871": "FUN14 DOMAIN-CONTAINING PROTEIN 1; FUNDC1", "OMIM:300873": "GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 3-LIKE PROTEIN; GNL3L", "OMIM:300874": "MICRO RNA 508; MIR508", "OMIM:300875": "MICRO RNA 509-1; MIR509-1", "OMIM:300876": "MICRO RNA 509-3; MIR509-3", "OMIM:300877": "MICRO RNA 506; MIR506", "OMIM:300878": "DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR C1; DMRTC1", "OMIM:300879": "XG GLYCOPROTEIN; XG", "OMIM:300880": "PROTEASOME 26S SUBUNIT, NON-ATPase, 10; PSMD10", "OMIM:300883": "SORTING NEXIN 12; SNX12", "OMIM:300885": "CYTOCHROME c OXIDASE, SUBUNIT 7B; COX7B", "OMIM:300889": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12B; ZC3H12B", "OMIM:300890": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 9; ASB9", "OMIM:300891": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 12; ASB12", "OMIM:300892": "LONG INTERGENIC NONCODING RNA 850; LINC00850", "OMIM:300893": "MICRO RNA 502; MIR502", "OMIM:300897": "ZINC FINGER C4H2 DOMAIN-CONTAINING PROTEIN; ZC4H2", "OMIM:300898": "CDR1 ANTISENSE RNA ; CDR1AS", "OMIM:300899": "RIBOSOMAL PROTEIN L39; RPL39", "OMIM:300900": "REMOVED FROM DATABASE", "OMIM:300901": "X-ACTIVE-SPECIFIC NONCODING TRANSCRIPT; XACT", "OMIM:300902": "RIBOSOMAL PROTEIN L36A; RPL36A", "OMIM:300903": "G PROTEIN-COUPLED RECEPTOR 174; GPR174", "OMIM:300904": "INSULIN RECEPTOR SUBSTRATE 4; IRS4", "OMIM:300906": "PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 3; PDK3", "OMIM:300907": "CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD; CSTF2", "OMIM:300910": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18; BMND18", "OMIM:300913": "VACUOLAR ATPase ASSEMBLY FACTOR VMA21; VMA21", "OMIM:300916": "PARANEOPLASTIC MA ANTIGEN FAMILY, MEMBER 5; PNMA5", "OMIM:300917": "PARANEOPLASTIC MA ANTIGEN FAMILY, MEMBER 6A; PNMA6A", "OMIM:300920": "ATAXIN 3-LIKE; ATXN3L", "OMIM:300921": "BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 9; BHLHB9", "OMIM:300922": "CYSTEINE-RICH HYDROPHOBIC DOMAIN PROTEIN 1; CHIC1", "OMIM:300924": "ACYL-CoA WAX ALCOHOL ACYLTRANSFERASE 1; AWAT1", "OMIM:300925": "ACYL-CoA WAX ALCOHOL ACYLTRANSFERASE 2; AWAT2", "OMIM:300926": "DIACYLGLYCEROL O-ACYLTRANSFERASE 2-LIKE 6; DGAT2L6", "OMIM:300927": "PEROXIREDOXIN 4; PRDX4", "OMIM:300929": "MICRO RNA 718; MIR718", "OMIM:300930": "MAP7 DOMAIN-CONTAINING PROTEIN 3; MAP7D3", "OMIM:300931": "PIRIN; PIR", "OMIM:300932": "THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS; TBGQTL", "OMIM:300933": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 6; DNAAF6", "OMIM:300935": "PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 1; PRRG1", "OMIM:300936": "FTX TRANSCRIPT, XIST REGULATOR, NONCODING; FTX", "OMIM:300937": "RHO GTPase-ACTIVATING PROTEIN 36; ARHGAP36", "OMIM:300938": "MATRIX REMODELING-ASSOCIATED PROTEIN 5; MXRA5", "OMIM:300939": "THYMOSIN, BETA-15A; TMSB15A", "OMIM:300940": "GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 2; GDPD2", "OMIM:300941": "SOLUTE CARRIER FAMILY 25, MEMBER 53; SLC25A53", "OMIM:300944": "CSAG FAMILY, MEMBER 1; CSAG1", "OMIM:300945": "TSR2 RIBOSOME MATURATION FACTOR; TSR2", "OMIM:300947": "COILED-COIL DOMAIN-CONTAINING PROTEIN 120; CCDC120", "OMIM:300948": "PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, BETA ISOFORM; PCYT1B", "OMIM:300949": "FORKHEAD BOX R2; FOXR2", "OMIM:300950": "MICRO RNA 20B; MIR20B", "OMIM:300951": "RING FINGER PROTEIN 113A; RNF113A", "OMIM:300954": "ENDOTHELIUM- AND LYMPHOCYTE-ASSOCIATED ASCH DOMAIN 1; EOLA1", "OMIM:300955": "APOLIPOPROTEIN O-LIKE; APOOL", "OMIM:300956": "BRAF PSEUDOGENE 1; BRAFP1", "OMIM:300959": "DIVERGENT PROTEIN KINASE DOMAIN 2B; DIPK2B", "OMIM:300961": "MID1-INTERACTING PROTEIN 1; MID1IP1", "OMIM:300962": "GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 8; GEMIN8", "OMIM:300964": "LAS1-LIKE RIBOSOME BIOGENESIS FACTOR; LAS1L", "OMIM:300965": "RETROTRANSPOSON GAG-LIKE 9; RTL9", "OMIM:300969": "G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN 2; GPRASP2", "OMIM:300970": "MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 4; MORC4", "OMIM:300973": "RHOX HOMEOBOX FAMILY MEMBER 1, PSEUDOGENE 1; RHOXF1P1", "OMIM:300974": "PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 1; PLCXD1", "OMIM:300975": "UBIQUITIN-SPECIFIC PROTEASE 27, X-LINKED; USP27X", "OMIM:300976": "FAMILY WITH SEQUENCE SIMILARITY 46, MEMBER D; FAM46D", "OMIM:300980": "KELCH-LIKE 15; KLHL15", "OMIM:300981": "VARIABLY CHARGED, X CHROMOSOME, 3B; VCX3B", "OMIM:300992": "NEGATIVE REGULATOR OF P-BODY ASSOCIATION; NBDY", "OMIM:300993": "PAS DOMAIN-CONTAINING REPRESSOR 1; PASD1", "OMIM:300994": "HIGHLY DIVERGENT HOMEOBOX; HDX", "OMIM:300995": "KIAA1210 GENE; KIAA1210", "OMIM:300996": "YIP1 DOMAIN FAMILY, MEMBER 6; YIPF6", "OMIM:300999": "FUNCTIONAL INTERGENIC REPEATING RNA ELEMENT; FIRRE", "OMIM:301001": "DXZ4-ASSOCIATED NONCODING TRANSCRIPT 1, PROXIMAL; DANT1", "OMIM:301002": "SRSF PROTEIN KINASE 3; SRPK3", "OMIM:301003": "G-PATCH DOMAIN AND KOW MOTIFS; GPKOW", "OMIM:301004": "DXZ4-ASSOCIATED NONCODING TRANSCRIPT 2, DISTAL; DANT2", "OMIM:301005": "FERM- AND PDZ DOMAIN-CONTAINING PROTEIN 3; FRMPD3", "OMIM:301007": "ZINC FINGER, MATRIN-TYPE 1; ZMAT1", "OMIM:301009": "P ANTIGEN FAMILY, MEMBER 5; PAGE5", "OMIM:301011": "THYMOSIN, BETA-15B; TMSB15B", "OMIM:301012": "STING1 ER EXIT PROTEIN 1; STEEP1", "OMIM:301016": "RAS-RELATED PROTEIN 2C; RAP2C", "OMIM:301017": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 2C; PPP1R2C", "OMIM:301019": "KDM5C ADJACENT TRANSCRIPT, NONCODING; KANTR", "OMIM:301023": "MICRO RNA 532; MIR532", "OMIM:301027": "TBC1 DOMAIN FAMILY, MEMBER 8B; TBC1D8B", "OMIM:301031": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC", "OMIM:301032": "BASILICATA-AKHTAR SYNDROME; MRXSBA", "OMIM:301033": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8; CHNG8", "OMIM:301034": "DEHYDROGENASE/REDUCTASE, X-LINKED; DHRSX", "OMIM:301035": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9", "OMIM:301036": "EZH INHIBITORY PROTEIN; EZHIP", "OMIM:301037": "H2A.B VARIANT HISTONE 1; H2AB1", "OMIM:301038": "H2A.B VARIANT HISTONE 2; H2AB2", "OMIM:301039": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD", "OMIM:301041": "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR", "OMIM:301042": "FUN14 DOMAIN-CONTAINING PROTEIN 2; FUNDC2", "OMIM:301043": "HOLOPROSENCEPHALY 13, X-LINKED; HPE13", "OMIM:301044": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85", "OMIM:301045": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R", "OMIM:301046": "ARMADILLO REPEAT-CONTAINING PROTEIN, X-LINKED 4; ARMCX4", "OMIM:301047": "ARMADILLO REPEAT-CONTAINING PROTEIN, X-LINKED 5; ARMCX5", "OMIM:301048": "ARMADILLO REPEAT-CONTAINING PROTEIN, X-LINKED 6; ARMCX6", "OMIM:301049": "TLR ADAPTOR INTERACTING WITH ENDOLYSOSOMAL SLC15A4; TASL", "OMIM:301051": "IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74", "OMIM:301052": "WARFARIN SENSITIVITY, X-LINKED", "OMIM:301053": "MICRO RNA 505; MIR505", "OMIM:301054": "VEXAS SYNDROME; VEXAS", "OMIM:301055": "CPX CHROMOSOME REGION, CANDIDATE GENE 1; CPXCR1", "OMIM:301056": "MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND", "OMIM:301057": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 47; CFAP47", "OMIM:301058": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90", "OMIM:301059": "SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3", "OMIM:301060": "AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON", "OMIM:301061": "MYOTUBULARIN-RELATED PROTEIN 8; MTMR8", "OMIM:301062": "MICRO RNA 766; MIR766", "OMIM:301063": "X ANTIGEN FAMILY, MEMBER 5; XAGE5", "OMIM:301064": "MELANOMA ANTIGEN, FAMILY B, 18; MAGEB18", "OMIM:301065": "RAB40A, MEMBER RAS ONCOGENE FAMILY; RAB40A", "OMIM:301066": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF", "OMIM:301067": "FAMILY WITH SEQUENCE SIMILARITY 47, MEMBER C; FAM47C", "OMIM:301068": "HARDIKAR SYNDROME; HDKR", "OMIM:301069": "CHROMOSOME Xq13 DUPLICATION SYNDROME", "OMIM:301070": "WD REPEAT DOMAIN-CONTAINING PROTEIN 44; WDR44", "OMIM:301071": "THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13", "OMIM:301072": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH", "OMIM:301073": "ATPase, NA+/K+ TRANSPORTING FAMILY, MEMBER BETA-4; ATP1B4", "OMIM:301074": "AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2", "OMIM:301075": "MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7", "OMIM:301076": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP", "OMIM:301077": "SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4", "OMIM:301078": "IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98", "OMIM:301079": "DEAD-BOX HELICASE 53; DDX53", "OMIM:301080": "SYSTEMIC LUPUS ERYTHEMATOSUS 17; SLEB17", "OMIM:301081": "AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED; SAIDX", "OMIM:301082": "IMMUNODEFICIENCY 102; IMD102", "OMIM:301083": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9; CNSHA9", "OMIM:301084": "TRANSCRIPTION ELONGATION FACTOR A N-TERMINAL AND CENTRAL DOMAIN-CONTAINING PROTEIN; TCEANC", "OMIM:301085": "ADHESION G PROTEIN-COUPLED RECEPTOR G4; ADGRG4", "OMIM:301086": "MOTILE SPERM DOMAIN-CONTAINING PROTEIN 2; MOSPD2", "OMIM:301087": "FGF13 ANTISENSE RNA 1, NONCODING; FGF13AS1", "OMIM:301088": "C-X9-C MOTIF-CONTAINING PROTEIN 4; CMC4", "OMIM:301089": "WWC FAMILY, MEMBER 3; WWC3", "OMIM:301091": "EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES; EPILX2", "OMIM:301092": "MICRO RNA 92A2; MIR92A2", "OMIM:301093": "NHS-LIKE PROTEIN 2; NHSL2", "OMIM:301094": "HIJAZI-REIS SYNDROME; HIJRS", "OMIM:301095": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110; XLID110", "OMIM:301096": "CSAG FAMILY, MEMBER 2; CSAG2", "OMIM:301097": "CSAG FAMILY, MEMBER 3; CSAG3", "OMIM:301098": "MEMBRANE MAGNESIUM TRANSPORTER 1; MMGT1", "OMIM:301099": "SPERMATOGENIC FAILURE, X-LINKED, 5; SPGFX5", "OMIM:301101": "SPERMATOGENIC FAILURE, X-LINKED, 6; SPGFX6", "OMIM:301102": "TRANSMEMBRANE PROTEIN 31; TMEM31", "OMIM:301103": "MITOCHONDRIAL PYRUVATE CARRIER 1-LIKE PROTEIN; MPC1L", "OMIM:301104": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3F; PPP1R3F", "OMIM:301105": "CANCER/TESTIS ANTIGEN 55; CT55", "OMIM:301106": "SPERMATOGENIC FAILURE, X-LINKED, 7; SPGFX7", "OMIM:301107": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111; XLID111", "OMIM:301108": "CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1; CHINE1", "OMIM:301109": "AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED; ADMIDX", "OMIM:301110": "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE; AHUS8", "OMIM:301111": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112; XLID112", "OMIM:301112": "GLYOXALASE DOMAIN-CONTAINING PROTEIN 5; GLOD5", "OMIM:301113": "SPINDLIN FAMILY, MEMBER 4; SPIN4", "OMIM:301114": "LUI-JEE-BARON SYNDROME; LJBS", "OMIM:301115": "IMMUNODEFICIENCY 118; IMD118", "OMIM:301116": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113; XLID113", "OMIM:301117": "CHROMOSOME X OPEN READING FRAME 38; CXORF38", "OMIM:301118": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37; MRXS37", "OMIM:301119": "SPERMATOGENIC FAILURE, X-LINKED, 8; SPGFX8", "OMIM:301120": "PROSTATE CANCER, HEREDITARY, X-LINKED 3; HPCX3", "OMIM:301121": "MAP7 DOMAIN-CONTAINING PROTEIN 2; MAP7D2", "OMIM:301122": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 18; ZCCHC18", "OMIM:301123": "TESTIS-EXPRESSED GENE 13C; TEX13C", "OMIM:301124": "TESTIS-EXPRESSED GENE 13D; TEX13D", "OMIM:301125": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 13; ZCCHC13", "OMIM:301126": "SYNAPTOTAGMIN-LIKE 5; SYTL5", "OMIM:301127": "ARTHROGRYPOSIS MULTIPLEX CONGENITA 7, X-LINKED; AMC7", "OMIM:301128": "tRNA METHYLTRANSFERASE 2 HOMOLOG B; TRMT2B", "OMIM:301129": "SPERMIDINE/SPERMINE N1-ACETYLTRANSFERASE-LIKE 1; SATL1", "OMIM:301130": "RETROTRANSPOSON GAG-LIKE 3; RTL3", "OMIM:301131": "RETROTRANSPOSON GAG-LIKE 4; RTL4", "OMIM:301132": "OROFACIODIGITAL SYNDROME XXI; OFD21", "OMIM:301133": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD; CDG1DD", "OMIM:301134": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114; XLID114", "OMIM:301135": "RETROTRANSPOSON GAG-LIKE PROTEIN 5; RTL5", "OMIM:301136": "RBMX-LIKE PROTEIN 3; RBMXL3", "OMIM:301137": "SPERMATOGENIC FAILURE, X-LINKED, 9; SPGFX9", "OMIM:301138": "MICRO RNA 934; MIR934", "OMIM:301139": "ZINC FINGER PROTEIN 92; ZFP92", "OMIM:301140": "PTCHD1 ANTISENSE RNA, NONCODING; PTCHD1AS", "OMIM:301141": "VCP NUCLEAR COFACTOR FAMILY, MEMBER 2; VCF2", "OMIM:301142": "NEURODEGENERATIVE DISORDER, X-LINKED, FEMALE-RESTRICTED, WITH PARKINSONISM AND COGNITIVE IMPAIRMENT; NDPACX", "OMIM:301143": "LONG INTERGENIC NONCODING RNA 1546; LINC01546", "OMIM:301144": "ARF-LIKE GTPase 13A; ARL13A", "OMIM:301145": "HUWE1-ASSOCIATED PROTEIN MODIFYING STRESS RESPONSES 2; HAPSTR2", "OMIM:301146": "RPA1-RELATED SINGLE-STRANDED DNA-BINDING PROTEIN, X-LINKED; RADX", "OMIM:301147": "LONG INTERGENIC NONCODING RNA 632; LINC00632", "OMIM:301148": "RETINITIS PIGMENTOSA 99; RP99", "OMIM:301149": "RETINAL DYSTROPHY, X-LINKED, GARDNER-HARDCASTLE TYPE; RDXGH", "OMIM:301300": "DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2", "OMIM:301410": "NEURAL TUBE DEFECTS, X-LINKED", "OMIM:301770": "ARRESTIN 3, RETINAL; ARR3", "OMIM:301780": "ARYLSULFATASE C, ISOZYME F; ARSC2", "OMIM:301790": "SPINOCEREBELLAR ATAXIA, X-LINKED 3", "OMIM:301815": "ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY", "OMIM:301840": "SPINOCEREBELLAR ATAXIA, X-LINKED 4", "OMIM:301850": "TUBULIN, BETA", "OMIM:301870": "BIGLYCAN; BGN", "OMIM:301880": "REMOVED FROM DATABASE", "OMIM:301940": "BRACHYDACTYLY, MONONEN TYPE", "OMIM:302020": "S100 CALCIUM-BINDING PROTEIN G; S100G", "OMIM:302650": "CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1; CDR1", "OMIM:302900": "CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED", "OMIM:302910": "CHLORIDE CHANNEL 4; CLCN4", "OMIM:303630": "COLLAGEN, TYPE IV, ALPHA-5; COL4A5", "OMIM:303631": "COLLAGEN, TYPE IV, ALPHA-6; COL4A6", "OMIM:303650": "COLONIC ATRESIA", "OMIM:304030": "CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN", "OMIM:304040": "GAP JUNCTION PROTEIN, BETA-1; GJB1", "OMIM:304200": "CUTIS VERTICIS GYRATA, THYROID APLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:304300": "CYANIDE, INABILITY TO SMELL", "OMIM:304350": "DEAFNESS-HYPOGONADISM SYNDROME", "OMIM:304900": "DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, X-LINKED", "OMIM:304950": "DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED", "OMIM:304990": "REMOVED FROM DATABASE", "OMIM:305350": "EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EVX", "OMIM:305360": "MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1", "OMIM:305370": "TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1", "OMIM:305371": "GATA-BINDING PROTEIN 1; GATA1", "OMIM:305423": "COAGULATION FACTOR VIII-ASSOCIATED PROTEIN 1; F8A1", "OMIM:305424": "FACTOR VIII-ASSOCIATED GENE 2", "OMIM:305435": "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3", "OMIM:305650": "REMOVED FROM DATABASE", "OMIM:305660": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-3; GABRA3", "OMIM:305670": "GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR", "OMIM:305900": "GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD", "OMIM:305915": "GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3", "OMIM:305920": "GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE", "OMIM:305990": "GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2", "OMIM:306250": "COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA", "OMIM:306480": "HALOACID DEHALOGENASE-LIKE HYDROLASE DOMAIN-CONTAINING 1A; HDHD1A", "OMIM:306600": "REMOVED FROM DATABASE", "OMIM:306800": "HEMOPHILIA A WITH VASCULAR ABNORMALITY", "OMIM:306995": "HOMOSEXUALITY 1; HMS1", "OMIM:307010": "HYDROCEPHALUS WITH CEREBELLAR AGENESIS", "OMIM:308000": "HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1", "OMIM:308200": "ICHTHYOSIS AND MALE HYPOGONADISM", "OMIM:308210": "REMOVED FROM DATABASE", "OMIM:308250": "IMMUNOGLOBULIN M, LEVEL OF", "OMIM:308290": "IMPRINTING GENE RELATED TO RETINOBLASTOMA", "OMIM:308380": "INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG", "OMIM:308385": "INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA", "OMIM:308400": "REMOVED FROM DATABASE", "OMIM:308500": "IRIS HYPOPLASIA WITH GLAUCOMA; IHG", "OMIM:308840": "L1 CELL ADHESION MOLECULE; L1CAM", "OMIM:308850": "LARYNGEAL ABDUCTOR PARALYSIS, X-LINKED", "OMIM:309050": "LUTHERAN SUPPRESSOR, X-LINKED; XS", "OMIM:309060": "LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2", "OMIM:309550": "FRAGILE X MESSENGER RIBONUCLEOPROTEIN 1; FMR1", "OMIM:309640": "MENTAL RETARDATION WITH SPASTIC PARAPLEGIA", "OMIM:309845": "MOESIN; MSN", "OMIM:309850": "MONOAMINE OXIDASE A; MAOA", "OMIM:309860": "MONOAMINE OXIDASE B; MAOB", "OMIM:310310": "MYCL-RELATED PROCESSED GENE; MYCL2", "OMIM:310370": "MYOCLONIC EPILEPSY, PROGRESSIVE", "OMIM:310650": "NUCLEAR RIBONUCLEIC ACID; nRNA", "OMIM:310900": "OCCIPITAL HAIR, WHITE LOCK OF", "OMIM:311010": "ARAF PROTOONCOGENE, SERINE/THREONINE KINASE; ARAF", "OMIM:311030": "MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE; MCF2", "OMIM:311040": "ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1", "OMIM:311240": "TBC1 DOMAIN FAMILY, MEMBER 25; TBC1D25", "OMIM:311350": "OUABAIN RESISTANCE; OUBR", "OMIM:311450": "PALLISTER W SYNDROME", "OMIM:311550": "CYCLIN-DEPENDENT KINASE 16; CDK16", "OMIM:311700": "REMOVED FROM DATABASE", "OMIM:311770": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN; PIGA", "OMIM:311790": "6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 1; PFKFB1", "OMIM:311800": "PHOSPHOGLYCERATE KINASE 1; PGK1", "OMIM:311850": "PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1", "OMIM:311860": "PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE II; PRPS2", "OMIM:311870": "PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1", "OMIM:312030": "REMOVED FROM DATABASE", "OMIM:312040": "DNA POLYMERASE ALPHA-1, CATALYTIC SUBUNIT; POLA1", "OMIM:312070": "UBIQUITIN-LIKE 4A; UBL4A", "OMIM:312090": "SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY) MEMBER 3; SLC10A3", "OMIM:312095": "A-KINASE ANCHOR PROTEIN 17A; AKAP17A", "OMIM:312173": "RIBOSOMAL PROTEIN L10; RPL10", "OMIM:312180": "UBIQUITIN-CONJUGATING ENZYME E2 A; UBE2A", "OMIM:312200": "RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER", "OMIM:312420": "RENIN-BINDING PROTEIN; RENBP", "OMIM:312530": "REMOVED FROM DATABASE", "OMIM:312610": "RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR", "OMIM:312760": "RIBOSOMAL PROTEIN S4, X-LINKED; RPS4X", "OMIM:312780": "RUSSELL-SILVER SYNDROME, X-LINKED", "OMIM:312820": "SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1", "OMIM:312861": "5-HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C", "OMIM:312865": "SHORT STATURE HOMEOBOX; SHOX", "OMIM:313020": "SPERMIDINE/SPERMINE N1-ACETYLTRANSFERASE 1; SAT1", "OMIM:313430": "SRY-BOX 3; SOX3", "OMIM:313440": "SYNAPSIN I; SYN1", "OMIM:313450": "REMOVED FROM DATABASE", "OMIM:313460": "REMOVED FROM DATABASE", "OMIM:313470": "CD99 ANTIGEN, X CHROMOSOME; CD99", "OMIM:313475": "SYNAPTOPHYSIN; SYP", "OMIM:313480": "TaqI POLYMORPHISM; TAQ1", "OMIM:313490": "TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS; TMDI", "OMIM:313550": "REMOVED FROM DATABASE", "OMIM:313650": "TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 250-KD; TAF1", "OMIM:313700": "ANDROGEN RECEPTOR; AR", "OMIM:314200": "THYROXINE-BINDING GLOBULIN OF SERUM; TBG", "OMIM:314240": "TOOTH SIZE", "OMIM:314310": "TRANSCRIPTION FACTOR FOR IMMUNOGLOBULIN HEAVY-CHAIN ENHANCER 3; TFE3", "OMIM:314350": "REMOVED FROM DATABASE", "OMIM:314360": "ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET", "OMIM:314370": "UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 1; UBA1", "OMIM:314375": "SOLUTE CARRIER FAMILY 35 (UDP-GALACTOSE TRANSPORTER), MEMBER 2; SLC35A2", "OMIM:314570": "WIDOW'S PEAK SYNDROME", "OMIM:314670": "X INACTIVATION-SPECIFIC TRANSCRIPT; XIST", "OMIM:314690": "LYSINE DEMETHYLASE 5C; KDM5C", "OMIM:314700": "BLOOD GROUP, XG SYSTEM; XG", "OMIM:314705": "XG REGULATOR; XGR", "OMIM:314850": "KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK", "OMIM:314900": "XM SYSTEM", "OMIM:314920": "REMOVED FROM DATABASE", "OMIM:314940": "REMOVED FROM DATABASE", "OMIM:314960": "REMOVED FROM DATABASE", "OMIM:314980": "ZINC FINGER PROTEIN, X-LINKED; ZFX", "OMIM:314990": "ZINC FINGER PROTEIN 711; ZNF711", "OMIM:314993": "ZINC FINGER PROTEIN 182; ZNF182", "OMIM:314995": "ZINC FINGER PROTEIN 41; ZNF41", "OMIM:314997": "ZINC FINGER PROTEIN 75D; ZNF75D", "OMIM:314998": "ZINC FINGER PROTEIN 81; ZNF81", "OMIM:400000": "REMOVED FROM DATABASE", "OMIM:400005": "UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y", "OMIM:400006": "RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1, MEMBER A1; RBMY1A1", "OMIM:400008": "PROTEIN KINASE, Y-LINKED; PRKY", "OMIM:400009": "UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON Y CHROMOSOME; UTY", "OMIM:400010": "DEAD-BOX HELICASE 3, Y-LINKED; DDX3Y", "OMIM:400011": "ACETYLSEROTONIN METHYLTRANSFERASE-LIKE, Y-LINKED", "OMIM:400012": "VARIABLY CHARGED, Y CHROMOSOME; VCY", "OMIM:400013": "BASIC PROTEIN, Y CHROMOSOME, 2; BPY2", "OMIM:400014": "EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, Y-LINKED; EIF1AY", "OMIM:400015": "XK-RELATED PROTEIN ON Y CHROMOSOME; XKRY", "OMIM:400016": "CHROMODOMAIN PROTEIN, Y-LINKED, 1; CDY1", "OMIM:400017": "THYMOSIN, BETA-4, Y CHROMOSOME; TMSB4Y", "OMIM:400018": "CHROMODOMAIN PROTEIN, Y-LINKED, 2A; CDY2A", "OMIM:400019": "PTPBL-RELATED GENE ON Y; PRY", "OMIM:400020": "SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY", "OMIM:400021": "LYMPHOMA, HODGKIN, Y-LINKED PSEUDOAUTOSOMAL", "OMIM:400022": "PROTOCADHERIN 11, Y-LINKED; PCDH11Y", "OMIM:400023": "CYTOKINE RECEPTOR-LIKE FACTOR 2, Y-LINKED; CRLF2Y", "OMIM:400025": "TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, Y-LINKED; TGIF2LY", "OMIM:400026": "DELETED IN AZOOSPERMIA 2; DAZ2", "OMIM:400027": "DELETED IN AZOOSPERMIA 3; DAZ3", "OMIM:400028": "NEUROLIGIN 4, Y-LINKED; NLGN4Y", "OMIM:400029": "HEAT-SHOCK TRANSCRIPTION FACTOR, Y-LINKED; HSFY", "OMIM:400030": "RIBOSOMAL PROTEIN S4, Y-LINKED, 2; RPS4Y2", "OMIM:400031": "TAXILIN, GAMMA, Y-LINKED, PSEUDOGENE; TXLNGY", "OMIM:400033": "TRANSDUCIN-BETA-LIKE 1, Y-LINKED; TBL1Y", "OMIM:400034": "CHONDROITIN SULFATE PROTEOGLYCAN 4 PSEUDOGENE 1, Y-LINKED; CSPG4P1Y", "OMIM:400035": "GOLGA2 PSEUDOGENE 2, Y-LINKED; GOLGA2P2Y", "OMIM:400036": "TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 3; TTTY3", "OMIM:400037": "TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 4; TTTY4", "OMIM:400038": "TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 5; TTTY5", "OMIM:400039": "TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 6; TTTY6", "OMIM:400040": "TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 17; TTTY17", "OMIM:400041": "PTPBL-RELATED GENE ON Y, 2; PRY2", "OMIM:400042": "SPERMATOGENIC FAILURE, Y-LINKED, 1; SPGFY1", "OMIM:400046": "PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 1, Y-LINKED", "OMIM:400048": "DELETED IN AZOOSPERMIA 4; DAZ4", "OMIM:400049": "DEHYDROGENASE/REDUCTASE, Y-LINKED; DHRSY", "OMIM:400050": "VARIABLY CHARGED, Y CHROMOSOME, 1B; VCY1B", "OMIM:402500": "ACETYLSEROTONIN METHYLTRANSFERASE, Y-CHROMOSOMAL; ASMT", "OMIM:403000": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER A6, Y-CHROMOSOMAL; SLC25A6", "OMIM:410000": "AMELOGENIN, Y-CHROMOSOMAL; AMELY", "OMIM:424000": "REMOVED FROM DATABASE", "OMIM:425000": "GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, ALPHA SUBUNIT, Y-CHROMOSOMAL; CSF2RY", "OMIM:426000": "LYSINE DEMETHYLASE 5D; KDM5D", "OMIM:430000": "INTERLEUKIN 3 RECEPTOR, Y-CHROMOSOMAL; IL3RA", "OMIM:450000": "CD99 ANTIGEN, Y CHROMOSOME", "OMIM:465000": "A-KINASE ANCHOR PROTEIN 17A, Y-CHROMOSOMAL; AKAP17A", "OMIM:470000": "RIBOSOMAL PROTEIN S4, Y-LINKED, 1; RPS4Y1", "OMIM:475000": "GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY", "OMIM:480000": "SEX-DETERMINING REGION Y; SRY", "OMIM:480100": "TESTIS-SPECIFIC PROTEIN, Y-LINKED, 1; TSPY1", "OMIM:489000": "UBIQUITIN-ACTIVATING ENZYME, Y-LINKED", "OMIM:489500": "XG REGULATOR; XGR", "OMIM:490000": "ZINC FINGER PROTEIN, Y-LINKED; ZFY", "OMIM:500000": "CARDIOMYOPATHY, INFANTILE HISTIOCYTOID", "OMIM:500004": "RETINITIS PIGMENTOSA-DEAFNESS SYNDROME", "OMIM:500005": "HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL", "OMIM:500006": "CARDIOMYOPATHY, INFANTILE HYPERTROPHIC", "OMIM:500008": "DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL", "OMIM:500010": "ATAXIA AND POLYNEUROPATHY, ADULT-ONSET", "OMIM:500011": "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3; MLASA3", "OMIM:500013": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL; CMTMA", "OMIM:500014": "MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1; MC1DM1", "OMIM:500015": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1; MC5DM1", "OMIM:500017": "LEIGH SYNDROME, MITOCHONDRIAL; MILS", "OMIM:500018": "SPASTIC PARAPLEGIA, MITOCHONDRIAL; SPGM", "OMIM:502000": "AGING", "OMIM:502500": "ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL", "OMIM:510000": "REMOVED FROM DATABASE", "OMIM:516000": "COMPLEX I, SUBUNIT ND1; MTND1", "OMIM:516001": "COMPLEX I, SUBUNIT ND2; MTND2", "OMIM:516002": "COMPLEX I, SUBUNIT ND3; MTND3", "OMIM:516003": "COMPLEX I, SUBUNIT ND4; MTND4", "OMIM:516004": "COMPLEX I, SUBUNIT ND4L; MTND4L", "OMIM:516005": "COMPLEX I, SUBUNIT ND5; MTND5", "OMIM:516006": "COMPLEX I, SUBUNIT ND6; MTND6", "OMIM:516020": "CYTOCHROME b OF COMPLEX III; MTCYB", "OMIM:516030": "COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1", "OMIM:516040": "COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT II; MTCO2", "OMIM:516050": "CYTOCHROME c OXIDASE III; MTCO3", "OMIM:516060": "ATP SYNTHASE 6; MTATP6", "OMIM:516070": "ATP SYNTHASE 8; MTATP8", "OMIM:520100": "DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY", "OMIM:551200": "NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL", "OMIM:556500": "PARKINSON DISEASE, MITOCHONDRIAL", "OMIM:561000": "RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1", "OMIM:561010": "RIBOSOMAL RNA, MITOCHONDRIAL, 16S; MTRNR2", "OMIM:590000": "TRANSFER RNA, MITOCHONDRIAL, ALANINE; MTTA", "OMIM:590005": "TRANSFER RNA, MITOCHONDRIAL, ARGININE; MTTR", "OMIM:590010": "TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE; MTTN", "OMIM:590015": "TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID; MTTD", "OMIM:590020": "TRANSFER RNA, MITOCHONDRIAL, CYSTEINE; MTTC", "OMIM:590025": "TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE", "OMIM:590030": "TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE; MTTQ", "OMIM:590035": "TRANSFER RNA, MITOCHONDRIAL, GLYCINE; MTTG", "OMIM:590040": "TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH", "OMIM:590045": "TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI", "OMIM:590050": "TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1", "OMIM:590055": "TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2; MTTL2", "OMIM:590060": "TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK", "OMIM:590065": "TRANSFER RNA, MITOCHONDRIAL, METHIONINE; MTTM", "OMIM:590070": "TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF", "OMIM:590075": "TRANSFER RNA, MITOCHONDRIAL, PROLINE; MTTP", "OMIM:590080": "TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1", "OMIM:590085": "TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2", "OMIM:590090": "TRANSFER RNA, MITOCHONDRIAL, THREONINE; MTTT", "OMIM:590095": "TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW", "OMIM:590100": "TRANSFER RNA, MITOCHONDRIAL, TYROSINE; MTTY", "OMIM:590105": "TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV", "OMIM:600000": "SPONDYLOCAMPTODACTYLY", "OMIM:600003": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2", "OMIM:600004": "EPHRIN RECEPTOR EphA5; EPHA5", "OMIM:600005": "CLASS II MAJOR HISTOCOMPATIBILITY COMPLEX TRANSACTIVATOR; CIITA", "OMIM:600006": "REGULATORY FACTOR X, 1; RFX1", "OMIM:600007": "FMS-RELATED TYROSINE KINASE 3 LIGAND; FLT3LG", "OMIM:600008": "NICOTINAMIDE N-METHYLTRANSFERASE; NNMT", "OMIM:600009": "INTERFERON-ALPHA-INDUCIBLE PROTEIN 27; IFI27", "OMIM:600010": "INSULINOMA-ASSOCIATED 1; INSM1", "OMIM:600011": "EPHRIN RECEPTOR EphB4; EPHB4", "OMIM:600012": "UBIQUITIN-CONJUGATING ENZYME E2 L1, PSEUDOGENE; UBE2L1", "OMIM:600013": "TRANSCRIPTION FACTOR YY1; YY1", "OMIM:600014": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 2; SMARCA2", "OMIM:600016": "CONTACTIN 1; CNTN1", "OMIM:600017": "SYNDECAN 4; SDC4", "OMIM:600018": "OPIOID RECEPTOR, MU-1; OPRM1", "OMIM:600019": "CYTOCHROME b561; CYB561", "OMIM:600020": "MAX-INTERACTING PROTEIN 1; MXI1", "OMIM:600021": "MAX DIMERIZATION PROTEIN 1; MXD1", "OMIM:600022": "PROSTAGLANDIN I2 RECEPTOR; PTGIR", "OMIM:600023": "CADHERIN 11; CDH11", "OMIM:600024": "LAMIN B RECEPTOR; LBR", "OMIM:600025": "KINESIN LIGHT CHAIN 1; KLC1", "OMIM:600026": "SYNTROPHIN, BETA-1; SNTB1", "OMIM:600027": "SYNTROPHIN, BETA-2; SNTB2", "OMIM:600028": "DISTAL-LESS HOMEOBOX 5; DLX5", "OMIM:600029": "DISTAL-LESS HOMEOBOX 1; DLX1", "OMIM:600030": "DISTAL-LESS HOMEOBOX 6; DLX6", "OMIM:600031": "CHITINASE 1; CHIT1", "OMIM:600033": "TISSUE FACTOR PATHWAY INHIBITOR 2; TFPI2", "OMIM:600034": "EMPTY SPIRACLES HOMEOBOX 1; EMX1", "OMIM:600035": "EMPTY SPIRACLES HOMEOBOX 2; EMX2", "OMIM:600036": "ORTHODENTICLE HOMEOBOX 1; OTX1", "OMIM:600037": "ORTHODENTICLE HOMEOBOX 2; OTX2", "OMIM:600038": "MEGAKARYOCYTE-ASSOCIATED TYROSINE KINASE; MATK", "OMIM:600039": "BCL2-LIKE 1; BCL2L1", "OMIM:600040": "BCL2-ASSOCIATED X PROTEIN; BAX", "OMIM:600041": "PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 2; P2RY2", "OMIM:600042": "MELANOCORTIN 5 RECEPTOR; MC5R", "OMIM:600043": "SULFOTRANSFERASE FAMILY 1E, ESTROGEN-PREFERRING, MEMBER 1; SULT1E1", "OMIM:600044": "THROMBOPOIETIN; THPO", "OMIM:600045": "DNA DAMAGE-BINDING PROTEIN 1; DDB1", "OMIM:600046": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1", "OMIM:600047": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2", "OMIM:600049": "MDS1 GENE; MDS1", "OMIM:600050": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 11; MAP3K11", "OMIM:600051": "EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE 15; EPS15", "OMIM:600052": "APELIN RECEPTOR; APLNR", "OMIM:600053": "CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3", "OMIM:600058": "PROTEIN TYROSINE KINASE TXK; TXK", "OMIM:600061": "RAD23 HOMOLOG A, NUCLEOTIDE EXCISION REPAIR PROTEIN; RAD23A", "OMIM:600062": "RAD23 HOMOLOG B, NUCLEOTIDE EXCISION REPAIR PROTEIN; RAD23B", "OMIM:600063": "TROVE DOMAIN FAMILY, MEMBER 2; TROVE2", "OMIM:600064": "KERATIN-ASSOCIATED PROTEIN 11-1; KRTAP11-1", "OMIM:600065": "INTEGRIN, BETA-2; ITGB2", "OMIM:600066": "EPHRIN RECEPTOR EphA6; EPHA6", "OMIM:600067": "URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B4; UGT2B4", "OMIM:600068": "URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7; UGT2B7", "OMIM:600069": "URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B15; UGT2B15", "OMIM:600070": "URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B10; UGT2B10", "OMIM:600073": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2", "OMIM:600074": "CD24 ANTIGEN; CD24", "OMIM:600075": "TATA BOX-BINDING PROTEIN; TBP", "OMIM:600076": "TENSIN 1; TNS1", "OMIM:600079": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 12; PTPN12", "OMIM:600085": "PROTEIN-TYROSINE KINASE SYK; SYK", "OMIM:600086": "ALCOHOL DEHYDROGENASE 7; ADH7", "OMIM:600087": "TUFTELIN; TUFT1", "OMIM:600096": "PUERTO RICAN INFANT HYPOTONIA SYNDROME", "OMIM:600098": "RELATED RAS VIRAL ONCOGENE HOMOLOG 2; RRAS2", "OMIM:600103": "SYNAPTOTAGMIN 4; SYT4", "OMIM:600104": "SYNAPTOTAGMIN 2; SYT2", "OMIM:600106": "INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 40-KD; INPP5A", "OMIM:600108": "MATRIX METALLOPROTEINASE 13; MMP13", "OMIM:600111": "SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 3; SLC1A3", "OMIM:600112": "DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1", "OMIM:600114": "CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 3; CCT3", "OMIM:600119": "SARCOGLYCAN, ALPHA; SGCA", "OMIM:600122": "VERLOES SYNDROME", "OMIM:600123": "ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS", "OMIM:600124": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRNPA2B1", "OMIM:600126": "PHOSPHODIESTERASE 4A; PDE4A", "OMIM:600127": "PHOSPHODIESTERASE 4B; PDE4B", "OMIM:600128": "PHOSPHODIESTERASE 4C; PDE4C", "OMIM:600129": "PHOSPHODIESTERASE 4D; PDE4D", "OMIM:600130": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE 1; APOBEC1", "OMIM:600133": "LAMININ, ALPHA-4; LAMA4", "OMIM:600135": "CORTEXIN 1; CTXN1", "OMIM:600136": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 9; MAP3K9", "OMIM:600137": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 10; MAP3K10", "OMIM:600140": "CREB-BINDING PROTEIN; CREBBP", "OMIM:600141": "HEAT-SHOCK 10-KD PROTEIN; HSPE1", "OMIM:600144": "INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 2; ITPR2", "OMIM:600147": "MESENCHYME HOMEOBOX 1; MEOX1", "OMIM:600148": "GLYCEROL KINASE 2; GK2", "OMIM:600149": "GLYCEROL KINASE 3 PSEUDOGENE; GK3P", "OMIM:600150": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, ALPHA MEMBER 1; KCNMA1", "OMIM:600152": "SEC13 HOMOLOG, NUCLEAR PORE AND COPII COAT COMPLEX COMPONENT; SEC13", "OMIM:600153": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS F PROTEIN; PIGF", "OMIM:600154": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEIN; PIGH", "OMIM:600157": "ADAPTOR-RELATED PROTEIN COMPLEX 1, BETA-1 SUBUNIT; AP1B1", "OMIM:600159": "PTERYGIUM COLLI AND IMPAIRED INTELLECTUAL DEVELOPMENT WITH FACIAL AND DIGITAL ANOMALIES", "OMIM:600160": "CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A", "OMIM:600161": "PRADER-WILLI/ANGELMAN REGION RNA 1; PWAR1", "OMIM:600162": "PRADER-WILLI/ANGELMAN REGION RNA 5; PWAR5", "OMIM:600163": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 5; SCN5A", "OMIM:600164": "GTP-BINDING MITOGEN-INDUCED T-CELL PROTEIN; GEM", "OMIM:600167": "HISTAMINE RECEPTOR H1; HRH1", "OMIM:600168": "MACROPHAGE STIMULATING 1 RECEPTOR; MST1R", "OMIM:600169": "MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE A; MICA", "OMIM:600170": "AQUAPORIN 3; AQP3", "OMIM:600171": "GONADAL AGENESIS", "OMIM:600172": "METAL-REGULATORY TRANSCRIPTION FACTOR 1; MTF1", "OMIM:600173": "JANUS KINASE 3; JAK3", "OMIM:600174": "PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, ALPHA; PITPNA", "OMIM:600178": "MICROTUBULE-ASSOCIATED PROTEIN 1A; MAP1A", "OMIM:600179": "GUANYLATE CYCLASE 2D, RETINAL; GUCY2D", "OMIM:600181": "LIPOCALIN 2; LCN2", "OMIM:600182": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 5; SLC7A5", "OMIM:600183": "DUAL-SPECIFICITY PHOSPHATASE 3; DUSP3", "OMIM:600184": "CARNITINE ACETYLTRANSFERASE; CRAT", "OMIM:600185": "BRCA2 DNA REPAIR-ASSOCIATED PROTEIN; BRCA2", "OMIM:600187": "EUKARYOTIC TRANSLATION INITIATION FACTOR 5A; EIF5A", "OMIM:600188": "TLE FAMILY MEMBER 5, TRANSCRIPTIONAL MODULATOR; TLE5", "OMIM:600189": "TLE FAMILY MEMBER 1, TRANSCRIPTIONAL COREPRESSOR; TLE1", "OMIM:600190": "TLE FAMILY MEMBER 3, TRANSCRIPTIONAL COREPRESSOR; TLE3", "OMIM:600192": "SS18 SUBUNIT OF BAF CHROMATIN REMODELING COMPLEX; SS18", "OMIM:600194": "KERATIN 2, TYPE II; KRT2", "OMIM:600197": "MAF bZIP TRANSCRIPTION FACTOR K; MAFK", "OMIM:600201": "AGOUTI SIGNALING PROTEIN; ASIP", "OMIM:600206": "EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE 8; EPS8", "OMIM:600207": "HIPPOCALCIN-LIKE 1; HPCAL1", "OMIM:600210": "RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3", "OMIM:600211": "RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2", "OMIM:600212": "FATTY ACID SYNTHASE; FASN", "OMIM:600214": "ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER", "OMIM:600215": "MICROFIBRILLAR-ASSOCIATED PROTEIN 1; MFAP1", "OMIM:600220": "PHOSPHOLIPASE C, GAMMA-2; PLCG2", "OMIM:600221": "TEK TYROSINE KINASE, ENDOTHELIAL; TEK", "OMIM:600222": "TYROSINE KINASE WITH IMMUNOGLOBULIN AND EGF FACTOR HOMOLOGY DOMAINS 1; TIE1", "OMIM:600225": "GTP CYCLOHYDROLASE I; GCH1", "OMIM:600227": "CYCLIN F; CCNF", "OMIM:600228": "SODIUM CHANNEL, EPITHELIAL 1, ALPHA SUBUNIT; SCNN1A", "OMIM:600229": "SOLUTE CARRIER FAMILY 1 (GLUTAMATE/NEUTRAL AMINO ACID TRANSPORTER), MEMBER 4; SLC1A4", "OMIM:600230": "PHOSPHOLIPASE C, BETA-3; PLCB3", "OMIM:600232": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-2; GABRB2", "OMIM:600233": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-3; GABRG3", "OMIM:600234": "3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2; HMGCS2", "OMIM:600235": "SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 1; SCN1B", "OMIM:600236": "CENTROMERIC PROTEIN F; CENPF", "OMIM:600237": "HISTONE CELL CYCLE REGULATOR; HIRA", "OMIM:600238": "TRANSGLUTAMINASE 3; TGM3", "OMIM:600239": "CHEMERIN CHEMOKINE-LIKE RECEPTOR 2; CMKLR2", "OMIM:600240": "CHEMOKINE (C-C) RECEPTOR 10; CCR10", "OMIM:600241": "G PROTEIN-COUPLED RECEPTOR 3; GPR3", "OMIM:600242": "CHEMOKINE, CC MOTIF, RECEPTOR 7; CCR7", "OMIM:600243": "DEFENDER AGAINST CELL DEATH 1; DAD1", "OMIM:600244": "PROGRAMMED CELL DEATH 1; PDCD1", "OMIM:600245": "FIBROMODULIN; FMOD", "OMIM:600246": "ELK4, ETS-DOMAIN PROTEIN; ELK4", "OMIM:600247": "ELK3, ETS-DOMAIN PROTEIN; ELK3", "OMIM:600249": "ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER L1; ALDH1L1", "OMIM:600250": "CHEMOKINE, C MOTIF, LIGAND 1; XCL1", "OMIM:600253": "ARYL HYDROCARBON RECEPTOR; AHR", "OMIM:600258": "PMS1 HOMOLOG 1, MISMATCH REPAIR SYSTEM COMPONENT; PMS1", "OMIM:600259": "PMS1 HOMOLOG 2, MISMATCH REPAIR SYSTEM COMPONENT; PMS2", "OMIM:600261": "REMOVED FROM DATABASE", "OMIM:600262": "PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2", "OMIM:600264": "ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B", "OMIM:600266": "SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 1; SLC11A1", "OMIM:600267": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13", "OMIM:600270": "PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER; PCOLCE", "OMIM:600271": "DESMOCOLLIN 3; DSC3", "OMIM:600272": "COILIN; COIL", "OMIM:600275": "NOTCH RECEPTOR 2; NOTCH2", "OMIM:600276": "NOTCH RECEPTOR 3; NOTCH3", "OMIM:600277": "INHIBITOR OF DNA BINDING 3; ID3", "OMIM:600278": "RAP1 GTPase-ACTIVATING PROTEIN; RAP1GAP", "OMIM:600279": "PEROXISOME BIOGENESIS FACTOR 19; PEX19", "OMIM:600280": "NUCLEOTIDE-BINDING PROTEIN 1; NUBP1", "OMIM:600281": "HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A", "OMIM:600282": "GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 4; GRIK4", "OMIM:600283": "GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 5; GRIK5", "OMIM:600284": "ELONGATION FACTOR RNA POLYMERASE II; ELL", "OMIM:600285": "EUKARYOTIC TRANSLATION TERMINATION FACTOR 1; ETF1", "OMIM:600286": "PHOSPHATIDYLINOSITOL 4-KINASE, ALPHA; PI4KA", "OMIM:600287": "GLYCYL-tRNA SYNTHETASE 1; GARS1", "OMIM:600288": "FORKHEAD BOX A2; FOXA2", "OMIM:600289": "MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14", "OMIM:600291": "ADENYLATE CYCLASE 3; ADCY3", "OMIM:600292": "ADENYLATE CYCLASE 4; ADCY4", "OMIM:600293": "ADENYLATE CYCLASE 5; ADCY5", "OMIM:600294": "ADENYLATE CYCLASE 6; ADCY6", "OMIM:600295": "NATRIURETIC PEPTIDE PRECURSOR B; NPPB", "OMIM:600296": "NATRIURETIC PEPTIDE PRECURSOR C; NPPC", "OMIM:600297": "CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2", "OMIM:600298": "LIM HOMEOBOX TRANSCRIPTION FACTOR 1, ALPHA; LMX1A", "OMIM:600299": "PERICENTRIOLAR MATERIAL 1; PCM1", "OMIM:600300": "SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 2; SLC1A2", "OMIM:600301": "ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB", "OMIM:600302": "FRYNS MACROCEPHALY", "OMIM:600303": "RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RAPGEF1", "OMIM:600305": "ENOYL-CoA DELTA ISOMERASE 1; ECI1", "OMIM:600306": "PROTEASOME SUBUNIT, BETA-TYPE, 5; PSMB5", "OMIM:600307": "PROTEASOME SUBUNIT, BETA-TYPE, 6; PSMB6", "OMIM:600308": "AQUAPORIN 4; AQP4", "OMIM:600310": "CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP", "OMIM:600311": "GRANZYME M; GZMM", "OMIM:600312": "NUDIX HYDROLASE 1; NUDT1", "OMIM:600314": "SH2 DOMAIN-CONTAINING ADAPTOR PROTEIN B; SHB", "OMIM:600315": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4", "OMIM:600317": "TROPOMYOSIN 4; TPM4", "OMIM:600318": "TYPE 1 DIABETES MELLITUS 3; T1D3", "OMIM:600319": "TYPE 1 DIABETES MELLITUS 4; T1D4", "OMIM:600320": "TYPE 1 DIABETES MELLITUS 5; T1D5", "OMIM:600321": "TYPE 1 DIABETES MELLITUS 7; T1D7", "OMIM:600322": "SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25", "OMIM:600323": "REGULATOR OF G PROTEIN SIGNALING 1; RGS1", "OMIM:600324": "CHEMOKINE, CXC MOTIF, LIGAND 5; CXCL5", "OMIM:600326": "DEAD-BOX HELICASE 6; DDX6", "OMIM:600327": "SYNAPTOTAGMIN 3; SYT3", "OMIM:600328": "MLLT6, PHD FINGER-CONTAINING; MLLT6", "OMIM:600329": "OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY", "OMIM:600333": "MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA", "OMIM:600336": "SOLUTE CARRIER FAMILY 18 (VESICULAR ACETYLCHOLINE), MEMBER 3; SLC18A3", "OMIM:600337": "BRADYKININ RECEPTOR B1; BDKRB1", "OMIM:600338": "ARYLACETAMIDE DEACETYLASE; AADAC", "OMIM:600339": "HEPATOMA-DERIVED GROWTH FACTOR; HDGF", "OMIM:600340": "PLASMOLIPIN; PLLP", "OMIM:600341": "TYRO3 PROTEIN TYROSINE KINASE; TYRO3", "OMIM:600342": "G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR", "OMIM:600345": "BETACELLULIN; BTC", "OMIM:600346": "POLYCOMB GROUP RING FINGER PROTEIN 2; PCGF2", "OMIM:600347": "BREVICAN; BCAN", "OMIM:600349": "INHIBITOR OF DNA BINDING 1; ID1", "OMIM:600351": "ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY", "OMIM:600353": "S100 CALCIUM-BINDING PROTEIN A7; S100A7", "OMIM:600354": "SURVIVAL OF MOTOR NEURON 1; SMN1", "OMIM:600355": "NEURONAL APOPTOSIS INHIBITORY PROTEIN; NAIP", "OMIM:600357": "RIBOSOMAL PROTEIN S8; RPS8", "OMIM:600358": "GUANINE MONOPHOSPHATE SYNTHETASE; GMPS", "OMIM:600359": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1", "OMIM:600362": "FLII ACTIN REMODELING PROTEIN; FLII", "OMIM:600364": "GUANYLATE CYCLASE ACTIVATOR 1A; GUCA1A", "OMIM:600365": "ABR ACTIVATOR OF RhoGEF AND GTPase; ABR", "OMIM:600366": "ISL LIM HOMEOBOX 1; ISL1", "OMIM:600367": "CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 3, 77-KD; CSTF3", "OMIM:600369": "CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 1, 50-KD; CSTF1", "OMIM:600370": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 3; SLC25A3", "OMIM:600372": "NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 1; NEDD1", "OMIM:600374": "BBS4 GENE; BBS4", "OMIM:600375": "X-RAY REPAIR CROSS COMPLEMENTING 2; XRCC2", "OMIM:600377": "GALANIN RECEPTOR 1; GALR1", "OMIM:600378": "INNER MEMBRANE PROTEIN, MITOCHONDRIAL; IMMT", "OMIM:600379": "MYELIN TRANSCRIPTION FACTOR 1; MYT1", "OMIM:600380": "NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2", "OMIM:600381": "KINECTIN; KTN1", "OMIM:600382": "MYC PROMOTER-BINDING PROTEIN", "OMIM:600385": "ADENYLATE CYCLASE 7; ADCY7", "OMIM:600386": "INHIBITOR OF DNA BINDING 2; ID2", "OMIM:600387": "BONE MARROW STROMAL CELL ANTIGEN 1; BST1", "OMIM:600388": "MEPRIN, ALPHA SUBUNIT; MEP1A", "OMIM:600389": "MEPRIN, BETA SUBUNIT; MEP1B", "OMIM:600390": "UPSTREAM TRANSCRIPTION FACTOR 2, FOS-INTERACTING; USF2", "OMIM:600391": "GLUCOSAMINYL (N-ACETYL) TRANSFERASE 1, CORE 2; GCNT1", "OMIM:600392": "RAD52 HOMOLOG, DNA REPAIR PROTEIN; RAD52", "OMIM:600393": "FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1", "OMIM:600395": "GLYPICAN 1; GPC1", "OMIM:600396": "DEAH-BOX HELICASE 8; DHX8", "OMIM:600397": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1; KCNB1", "OMIM:600398": "ZINC FINGER PROTEIN 160; ZNF160", "OMIM:600400": "PROLYL ENDOPEPTIDASE; PREP", "OMIM:600403": "FIBROBLAST ACTIVATION PROTEIN, ALPHA; FAP", "OMIM:600404": "REPLICATION FACTOR C, SUBUNIT 2; RFC2", "OMIM:600405": "REPLICATION FACTOR C, SUBUNIT 3; RFC3", "OMIM:600407": "REPLICATION FACTOR C, SUBUNIT 5; RFC5", "OMIM:600408": "DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 1; DDR1", "OMIM:600409": "PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD", "OMIM:600410": "TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 6; TNFAIP6", "OMIM:600411": "GUANYLATE-BINDING PROTEIN 1, INTERFERON-INDUCIBLE, 67-KD; GBP1", "OMIM:600412": "GUANYLATE-BINDING PROTEIN 2, INTERFERON-INDUCIBLE; GBP2", "OMIM:600413": "GUANYLATE-BINDING PROTEIN 3; GBP3", "OMIM:600414": "PEROXISOME BIOGENESIS FACTOR 5; PEX5", "OMIM:600415": "TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA", "OMIM:600416": "MUSCULAR DYSTROPHY, SCAPULOHUMERAL", "OMIM:600417": "5-PRIME-NUCLEOTIDASE, CYTOSOLIC II; NT5C2", "OMIM:600418": "AMPHIPHYSIN; AMPH", "OMIM:600421": "GLYCINE RECEPTOR, ALPHA-3 SUBUNIT; GLRA3", "OMIM:600422": "FATTY ACID-BINDING PROTEIN 6; FABP6", "OMIM:600423": "ENDOTHELIN-CONVERTING ENZYME 1; ECE1", "OMIM:600424": "SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 1; SLC19A1", "OMIM:600426": "E2F TRANSCRIPTION FACTOR 2; E2F2", "OMIM:600427": "E2F TRANSCRIPTION FACTOR 3; E2F3", "OMIM:600428": "VAV GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; VAV2", "OMIM:600429": "GLUCOSAMINYL (N-ACETYL) TRANSFERASE 2, I-BRANCHING ENZYME; GCNT2", "OMIM:600431": "CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B", "OMIM:600432": "PRECEREBELLIN 1; CBLN1", "OMIM:600433": "PRECEREBELLIN 2; CBLN2", "OMIM:600434": "FATTY ACID-BINDING PROTEIN 4; FABP4", "OMIM:600435": "CARDIOTROPHIN 1; CTF1", "OMIM:600436": "GLUTATHIONE S-TRANSFERASE, THETA-1; GSTT1", "OMIM:600437": "GLUTATHIONE S-TRANSFERASE, THETA-2; GSTT2", "OMIM:600438": "TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM", "OMIM:600439": "SINGLE-STRANDED DNA-BINDING PROTEIN 1; SSBP1", "OMIM:600440": "ENDONUCLEASE G, MITOCHONDRIAL; ENDOG", "OMIM:600441": "GROWTH ARREST-SPECIFIC 6; GAS6", "OMIM:600442": "AQUAPORIN 5; AQP5", "OMIM:600443": "GLUTAREDOXIN; GLRX", "OMIM:600444": "SOLUTE CARRIER FAMILY 5 (INOSITOL TRANSPORTER), MEMBER 3; SLC5A3", "OMIM:600445": "ADENOSINE A3 RECEPTOR; ADORA3", "OMIM:600446": "ADENOSINE A2B RECEPTOR; ADORA2B", "OMIM:600447": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 12; MAP3K12", "OMIM:600448": "PROTEIN KINASE C, THETA; PRKCQ", "OMIM:600449": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER 1; AKR1C1", "OMIM:600450": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2; AKR1C2", "OMIM:600451": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4; AKR1C4", "OMIM:600453": "TRIPARTITE MOTIF-CONTAINING PROTEIN 25; TRIM25", "OMIM:600454": "RIBOSOMAL PROTEIN S3; RPS3", "OMIM:600455": "RNA, U15A SMALL NUCLEOLAR; RNU15A", "OMIM:600456": "NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2", "OMIM:600458": "ADENOMYOSIS", "OMIM:600461": "HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES", "OMIM:600463": "ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A3; ALDH1A3", "OMIM:600464": "ADP-RIBOSYLATION FACTOR 6; ARF6", "OMIM:600465": "ANKYRIN 3; ANK3", "OMIM:600466": "ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B1; ALDH3B1", "OMIM:600469": "NUCLEAR CAP-BINDING PROTEIN 1; NCBP1", "OMIM:600470": "ZIC FAMILY, MEMBER 1; ZIC1", "OMIM:600471": "DEFENSIN, ALPHA, 6; DEFA6", "OMIM:600472": "DEFENSIN, ALPHA, 5; DEFA5", "OMIM:600473": "PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA", "OMIM:600474": "CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP", "OMIM:600475": "TAF10 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 30-KD; TAF10", "OMIM:600477": "SOLUTE CARRIER FAMILY 9, MEMBER 5; SLC9A5", "OMIM:600478": "SKI2 SUBUNIT OF SUPERKILLER COMPLEX; SKIC2", "OMIM:600480": "TRANSCRIPTION FACTOR 12; TCF12", "OMIM:600481": "STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2", "OMIM:600483": "FIBROBLAST GROWTH FACTOR 8; FGF8", "OMIM:600487": "PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 4; PCSK4", "OMIM:600488": "PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5", "OMIM:600489": "NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 1; NFATC1", "OMIM:600490": "NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 2; NFATC2", "OMIM:600491": "MICROFIBRILLAR-ASSOCIATED PROTEIN 3; MFAP3", "OMIM:600492": "NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2", "OMIM:600493": "ADHESION G PROTEIN-COUPLED RECEPTOR E1; ADGRE1", "OMIM:600494": "POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 2; POU3F2", "OMIM:600495": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 1; EIF4G1", "OMIM:600497": "PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2", "OMIM:600499": "REMOVED FROM DATABASE", "OMIM:600502": "IMMUNOGLOBULIN MU-BINDING PROTEIN 2; IGHMBP2", "OMIM:600503": "SUB1 REGULATOR OF TRANSCRIPTION; SUB1", "OMIM:600504": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 4; KCNJ4", "OMIM:600505": "CASEIN KINASE I, ALPHA-1; CSNK1A1", "OMIM:600508": "NCK ADAPTOR PROTEIN 1; NCK1", "OMIM:600509": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8", "OMIM:600514": "REELIN; RELN", "OMIM:600515": "PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12", "OMIM:600516": "BCL2 ANTAGONIST KILLER 1; BAK1", "OMIM:600517": "SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 3; SERPINB3", "OMIM:600518": "SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 4; SERPINB4", "OMIM:600519": "GENERAL TRANSCRIPTION FACTOR IIA, GAMMA SUBUNIT; GTF2A2", "OMIM:600520": "GENERAL TRANSCRIPTION FACTOR IIA, ALPHA/BETA SUBUNITS; GTF2A1", "OMIM:600521": "MANNAN-BINDING LECTIN SERINE PROTEASE 1; MASP1", "OMIM:600522": "PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A", "OMIM:600523": "SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 2; SLC11A2", "OMIM:600524": "RYK RECEPTOR-LIKE TYROSINE KINASE; RYK", "OMIM:600525": "DISTAL-LESS HOMEOBOX 3; DLX3", "OMIM:600526": "MAP/MICROTUBULE AFFINITY-REGULATING KINASE 2; MARK2", "OMIM:600527": "EPHRIN B2; EFNB2", "OMIM:600528": "CARNITINE PALMITOYLTRANSFERASE I, LIVER; CPT1A", "OMIM:600529": "AU-SPECIFIC RNA-BINDING PROTEIN; AUH", "OMIM:600530": "SOLUTE CARRIER FAMILY 9, MEMBER 2; SLC9A2", "OMIM:600531": "SOLUTE CARRIER FAMILY 9, MEMBER 4; SLC9A4", "OMIM:600532": "NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2; NDUFV2", "OMIM:600533": "VANGL PLANAR CELL POLARITY PROTEIN 2; VANGL2", "OMIM:600534": "BONE MARROW STROMAL CELL ANTIGEN 2; BST2", "OMIM:600535": "MESENCHYME HOMEOBOX 2; MEOX2", "OMIM:600536": "INTEGRIN, ALPHA-7; ITGA7", "OMIM:600537": "RECQ PROTEIN-LIKE; RECQL", "OMIM:600538": "PEROXIREDOXIN 2; PRDX2", "OMIM:600539": "PROTEIN KINASE C, IOTA FORM; PRKCI", "OMIM:600540": "TRANSCRIPTION FACTOR Sp4; SP4", "OMIM:600541": "ETS VARIANT TRANSCRIPTION FACTOR 1; ETV1", "OMIM:600542": "NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3", "OMIM:600543": "ERB-B2 RECEPTOR TYROSINE KINASE 4; ERBB4", "OMIM:600544": "SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 1; SLC15A1", "OMIM:600547": "CYSTEINE CONJUGATE BETA-LYASE 1; CCBL1", "OMIM:600548": "HEAT-SHOCK 70-KD PROTEIN 9; HSPA9", "OMIM:600549": "IK CYTOKINE, DOWNREGULATOR OF HLA II; IK", "OMIM:600550": "CATHEPSIN O; CTSO", "OMIM:600551": "G PROTEIN-COUPLED RECEPTOR 4; GPR4", "OMIM:600552": "CHEMOKINE, C MOTIF, RECEPTOR 1; XCR1", "OMIM:600553": "G PROTEIN-COUPLED RECEPTOR 6; GPR6", "OMIM:600554": "INTERLEUKIN 15; IL15", "OMIM:600555": "SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1", "OMIM:600556": "SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2", "OMIM:600558": "SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4", "OMIM:600560": "SHC TRANSFORMING PROTEIN 1; SHC1", "OMIM:600562": "CADHERIN 12; CDH12", "OMIM:600563": "PROSTAGLANDIN F RECEPTOR; PTGFR", "OMIM:600564": "INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 4; ITIH4", "OMIM:600565": "NEUREXIN I; NRXN1", "OMIM:600566": "NEUREXIN II; NRXN2", "OMIM:600567": "NEUREXIN III; NRXN3", "OMIM:600568": "NEUROLIGIN 1; NLGN1", "OMIM:600570": "CHLORIDE CHANNEL 2; CLCN2", "OMIM:600571": "RE1-SILENCING TRANSCRIPTION FACTOR; REST", "OMIM:600572": "SPLICING FACTOR, SERINE/ARGININE-RICH, 7; SRSF7", "OMIM:600573": "TAF7 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 55-KD; TAF7", "OMIM:600574": "LEUCINE ZIPPER-LIKE TRANSCRIPTIONAL REGULATOR 1; LZTR1", "OMIM:600575": "TRANSLIN; TSN", "OMIM:600576": "GATA-BINDING PROTEIN 4; GATA4", "OMIM:600577": "LIM HOMEOBOX GENE 3; LHX3", "OMIM:600578": "OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY H, MEMBER 3; OR2H3", "OMIM:600579": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, O; PTPRO", "OMIM:600580": "CHLORIDE CHANNEL 3; CLCN3", "OMIM:600581": "INHIBITOR OF DNA BINDING 4; ID4", "OMIM:600582": "ASPARTATE BETA-HYDROXYLASE; ASPH", "OMIM:600583": "TEC PROTEIN TYROSINE KINASE; TEC", "OMIM:600584": "NK2 HOMEOBOX 5; NKX2-5", "OMIM:600585": "TRANSGLUTAMINASE 4; TGM4", "OMIM:600586": "EPITHELIAL CELL TRANSFORMING SEQUENCE 2 ONCOGENE; ECT2", "OMIM:600587": "POM121/ZP3 FUSION PROTEIN; POMZP3", "OMIM:600589": "SERUM RESPONSE FACTOR; SRF", "OMIM:600590": "PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, BETA ISOFORM; PPP1CB", "OMIM:600591": "SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 1; SNAPC1", "OMIM:600592": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 7; MCM7", "OMIM:600594": "DIGEORGE SYNDROME CRITICAL REGION GENE 2; DGCR2", "OMIM:600595": "INTRAFLAGELLAR TRANSPORT 88; IFT88", "OMIM:600596": "MICROFIBRILLAR-ASSOCIATED PROTEIN 4; MFAP4", "OMIM:600597": "PHOSPHOLIPASE C-LIKE 1; PLCL1", "OMIM:600598": "SETTING-SUN PHENOMENON, FAMILIAL BENIGN", "OMIM:600599": "KRUPPEL-LIKE FACTOR 1; KLF1", "OMIM:600600": "EPHRIN RECEPTOR EphB1; EPHB1", "OMIM:600605": "METAXIN 1; MTX1", "OMIM:600606": "REMOVED FROM DATABASE", "OMIM:600607": "VACUOLAR PROTEIN SORTING 72 HOMOLOG; VPS72", "OMIM:600608": "PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 2; P4HA2", "OMIM:600609": "GA-BINDING PROTEIN TRANSCRIPTION FACTOR, ALPHA SUBUNIT; GABPA", "OMIM:600610": "GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT; GABPB", "OMIM:600611": "FK506-BINDING PROTEIN 4; FKBP4", "OMIM:600613": "NEUROBLASTOMA CANDIDATE REGION, SUPPRESSION OF TUMORIGENICITY 1; NBL1", "OMIM:600614": "S100 CALCIUM-BINDING PROTEIN P; S100P", "OMIM:600615": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7; LGALS7", "OMIM:600616": "LUMICAN; LUM", "OMIM:600617": "STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR", "OMIM:600618": "ETS VARIANT TRANSCRIPTION FACTOR 6; ETV6", "OMIM:600620": "FK506-BINDING PROTEIN 1B; FKBP1B", "OMIM:600621": "STATHMIN-LIKE 2; STMN2", "OMIM:600623": "CD82 ANTIGEN; CD82", "OMIM:600626": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3 BINDING PROTEIN; LGALS3BP", "OMIM:600628": "LOOSE ANAGEN HAIR SYNDROME", "OMIM:600629": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DO BETA; HLA-DOB", "OMIM:600632": "OPIOID-BINDING PROTEIN/CELL ADHESION MOLECULE-LIKE; OPCML", "OMIM:600633": "TREFOIL FACTOR 3; TFF3", "OMIM:600635": "NK2 HOMEOBOX 1; NKX2-1", "OMIM:600636": "CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3", "OMIM:600637": "SOLUTE CARRIER FAMILY 1 (HIGH AFFINITY ASPARTATE/GLUTAMATE TRANSPORTER), MEMBER 6; SLC1A6", "OMIM:600639": "CASPASE 2, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP2", "OMIM:600641": "SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 3; SULT1A3", "OMIM:600642": "MYOSIN IG; MYO1G", "OMIM:600643": "CAROLI DISEASE, ISOLATED", "OMIM:600644": "NECTIN CELL ADHESION MOLECULE 1; NECTIN1", "OMIM:600646": "PROTEIN C RECEPTOR; PROCR", "OMIM:600647": "H6 FAMILY HOMEOBOX 2; HMX2", "OMIM:600650": "CARNITINE PALMITOYLTRANSFERASE II; CPT2", "OMIM:600651": "FRAGILE SITE 11B; FRA11B", "OMIM:600654": "PROTEASOME ACTIVATOR SUBUNIT 1; PSME1", "OMIM:600655": "EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-2; EEF1B2", "OMIM:600658": "PROTEIN PHOSPHATASE 5, CATALYTIC SUBUNIT; PPP5C", "OMIM:600659": "E2F TRANSCRIPTION FACTOR 4; E2F4", "OMIM:600660": "MYOCYTE ENHANCER FACTOR 2A; MEF2A", "OMIM:600661": "MYOCYTE ENHANCER FACTOR 2B; MEF2B", "OMIM:600662": "MYOCYTE ENHANCER FACTOR 2C; MEF2C", "OMIM:600663": "MYOCYTE ENHANCER FACTOR 2D; MEF2D", "OMIM:600664": "COMPONENT OF NUCLEAR FACTOR KAPPA-B KINASE COMPLEX; CHUK", "OMIM:600665": "MELATONIN RECEPTOR 1A; MTNR1A", "OMIM:600667": "FRIZZLED CLASS RECEPTOR 2; FZD2", "OMIM:600673": "UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I); UBTF", "OMIM:600675": "X-RAY REPAIR CROSS COMPLEMENTING 3; XRCC3", "OMIM:600676": "CATR TUMORIGENIC CONVERSION 1; CATR1", "OMIM:600678": "MutS HOMOLOG 6; MSH6", "OMIM:600679": "DERMOID CYSTS, FAMILIAL FRONTONASAL", "OMIM:600681": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2", "OMIM:600682": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 1; SLC16A1", "OMIM:600684": "T-LYMPHOCYTE SURFACE ANTIGEN LY-9; LY9", "OMIM:600685": "KARYOPHERIN ALPHA-2; KPNA2", "OMIM:600686": "KARYOPHERIN ALPHA-1; KPNA1", "OMIM:600687": "T-CELL LYMPHOMA INVASION AND METASTASIS 1; TIAM1", "OMIM:600688": "CARBOXYPEPTIDASE A2, PANCREATIC; CPA2", "OMIM:600690": "T-CELL LEUKEMIA TRANSLOCATION-ASSOCIATED GENE; TCTA", "OMIM:600691": "SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 1; SLC27A1", "OMIM:600692": "TROPONIN T3, FAST SKELETAL; TNNT3", "OMIM:600693": "POLYPYRIMIDINE TRACT-BINDING PROTEIN 1; PTBP1", "OMIM:600694": "INTERLEUKIN 6 CYTOKINE FAMILY SIGNAL TRANSDUCER; IL6ST", "OMIM:600696": "ENOYL-CoA HYDRATASE 1, PEROXISOMAL; ECH1", "OMIM:600697": "RETINOBLASTOMA-BINDING PROTEIN 5; RBBP5", "OMIM:600698": "HIGH MOBILITY GROUP AT-HOOK 2; HMGA2", "OMIM:600700": "LIM DOMAIN-CONTAINING PREFERRED TRANSLOCATION PARTNER IN LIPOMA; LPP", "OMIM:600701": "HIGH MOBILITY GROUP AT-HOOK 1; HMGA1", "OMIM:600702": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 8; SCN8A", "OMIM:600703": "RIBOSOMAL PROTEIN S1-LIKE; RPS1L", "OMIM:600707": "SIGNAL RECOGNITION PARTICLE, 9-KD; SRP9", "OMIM:600708": "SIGNAL RECOGNITION PARTICLE, 14-KD; SRP14", "OMIM:600709": "ISOLEUCYL-tRNA SYNTHETASE 1; IARS1", "OMIM:600711": "ETS VARIANT TRANSCRIPTION FACTOR 4; ETV4", "OMIM:600712": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; HNRNPK", "OMIM:600713": "11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1", "OMIM:600714": "DUAL-SPECIFICITY PHOSPHATASE 1; DUSP1", "OMIM:600715": "THROMBOSPONDIN IV; THBS4", "OMIM:600716": "PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22", "OMIM:600719": "NITRIC OXIDE SYNTHASE 2B; NOS2B", "OMIM:600720": "NITRIC OXIDE SYNTHASE 2 PSEUDOGENE 1; NOS2P1", "OMIM:600722": "PALMITOYL-PROTEIN THIOESTERASE 1; PPT1", "OMIM:600723": "MEMBRANE PROTEIN, PALMITOYLATED 2; MPP2", "OMIM:600724": "CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1", "OMIM:600725": "SONIC HEDGEHOG SIGNALING MOLECULE; SHH", "OMIM:600726": "INDIAN HEDGEHOG SIGNALING MOLECULE; IHH", "OMIM:600727": "NUCLEAR FACTOR I/A; NFIA", "OMIM:600728": "NUCLEAR FACTOR I/B; NFIB", "OMIM:600729": "NUCLEAR FACTOR I/C; NFIC", "OMIM:600730": "NEUROPEPTIDES B AND W RECEPTOR 1; NPBWR1", "OMIM:600731": "G PROTEIN-COUPLED RECEPTOR 8; GPR8", "OMIM:600732": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 4D; ARL4D", "OMIM:600733": "PANCREAS/DUODENUM HOMEOBOX PROTEIN 1; PDX1", "OMIM:600734": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 5; KCNJ5", "OMIM:600735": "INTERFERON-INDUCED PROTEIN 35; IFI35", "OMIM:600736": "VELOFACIOSKELETAL SYNDROME", "OMIM:600738": "SELECTIN P LIGAND; SELPLG", "OMIM:600739": "SHC-LIKE PROTEIN; SHCL1", "OMIM:600742": "TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE III; TGFBR3", "OMIM:600743": "TRANSCRIPTION FACTOR AP4; TFAP4", "OMIM:600744": "T-CELL TRANSCRIPTION FACTOR EB; TFEB", "OMIM:600745": "APOLIPOPROTEIN C-IV; APOC4", "OMIM:600746": "CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 1; CDX1", "OMIM:600747": "T-BOX TRANSCRIPTION FACTOR 2; TBX2", "OMIM:600748": "TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 6; TMBIM6", "OMIM:600749": "CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE", "OMIM:600750": "NEURONAL PENTRAXIN 2; NPTX2", "OMIM:600751": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 1; SIGLEC1", "OMIM:600752": "G PROTEIN-COUPLED RECEPTOR 12; GPR12", "OMIM:600753": "GOLGI APPARATUS PROTEIN 1; GLG1", "OMIM:600754": "MATRIX METALLOPROTEINASE 14; MMP14", "OMIM:600755": "SYNAPSIN II; SYN2", "OMIM:600756": "PROTEIN PHOSPHATASE 2 PHOSPHATASE ACTIVATOR; PTPA", "OMIM:600758": "PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2", "OMIM:600759": "PRESENILIN 2; PSEN2", "OMIM:600760": "SODIUM CHANNEL, EPITHELIAL 1, BETA SUBUNIT; SCNN1B", "OMIM:600761": "SODIUM CHANNEL, EPITHELIAL 1, GAMMA SUBUNIT; SCNN1G", "OMIM:600762": "HUMAN PAPILLOMAVIRUS E5 CENTRAL SEQUENCE-LIKE 1; HPVC1", "OMIM:600763": "TUMOR PROTEIN, TRANSLATIONALLY-CONTROLLED 1; TPT1", "OMIM:600764": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-RELATED; MR1", "OMIM:600767": "GDP-DISSOCIATION INHIBITOR 2; GDI2", "OMIM:600768": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 9; PTPN9", "OMIM:600769": "TETRASPANIN 8; TSPAN8", "OMIM:600770": "MUCIN 5, SUBTYPE B, TRACHEOBRONCHIAL; MUC5B", "OMIM:600771": "DWARFISM, FAMILIAL, WITH MUSCLE SPASMS", "OMIM:600772": "TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11", "OMIM:600773": "TAF12 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 20-KD; TAF12", "OMIM:600774": "TAF13 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 18-KD; TAF13", "OMIM:600777": "TRANSCRIPTION TERMINATION FACTOR, RNA POLYMERASE I; TTF1", "OMIM:600778": "CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B", "OMIM:600781": "PEPTIDE YY; PYY", "OMIM:600782": "SYNAPTOTAGMIN 5; SYT5", "OMIM:600783": "HISTIDYL-tRNA SYNTHETASE 2; HARS2", "OMIM:600784": "GRANZYME K; GZMK", "OMIM:600786": "ELONGIN A; ELOA", "OMIM:600787": "ELONGIN B; ELOB", "OMIM:600788": "ELONGIN C; ELOC", "OMIM:600789": "RIBOSOMAL PROTEIN L23-LIKE; RPL23L", "OMIM:600796": "SPLICING FACTOR 3A, SUBUNIT 2; SF3A2", "OMIM:600797": "INSULIN RECEPTOR SUBSTRATE 2; IRS2", "OMIM:600798": "NECTIN CELL ADHESION MOLECULE 2; NECTIN2", "OMIM:600799": "BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2", "OMIM:600800": "NGFIA-BINDING PROTEIN; NAB1", "OMIM:600801": "ISOPROTERENOL-MEDIATED VASODILATATION", "OMIM:600804": "MELATONIN RECEPTOR 1B; MTNR1B", "OMIM:600805": "LAMININ, ALPHA-3; LAMA3", "OMIM:600806": "CALPONIN 1; CNN1", "OMIM:600810": "PHOSPHOLIPASE C, BETA-4; PLCB4", "OMIM:600811": "DNA DAMAGE-BINDING PROTEIN 2; DDB2", "OMIM:600812": "SPLICING FACTOR, SERINE/ARGININE-RICH, 1; SRSF1", "OMIM:600813": "SPLICING FACTOR, SERINE/ARGININE-RICH, 2; SRSF2", "OMIM:600814": "MRE11 HOMOLOG, DOUBLE-STRAND BREAK REPAIR NUCLEASE; MRE11", "OMIM:600815": "POLYMERASE (DNA-DIRECTED), DELTA 2, REGULATORY SUBUNIT; POLD2", "OMIM:600816": "HEAT-SHOCK 70-KD PROTEIN 8; HSPA8", "OMIM:600817": "VISININ-LIKE 1; VSNL1", "OMIM:600818": "TRANSGELIN; TAGLN", "OMIM:600819": "FMR1 AUTOSOMAL HOMOLOG 1; FXR1", "OMIM:600820": "ARCHAIN 1; ARCN1", "OMIM:600821": "ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A", "OMIM:600822": "TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 9; TAF9", "OMIM:600823": "PROTEASE, SERINE, 8; PRSS8", "OMIM:600824": "CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3", "OMIM:600825": "RAR-RELATED ORPHAN RECEPTOR A; RORA", "OMIM:600826": "CHONDROITIN SULFATE PROTEOGLYCAN 3; CSPG3", "OMIM:600827": "PHOSPHODIESTERASE 6C; PDE6C", "OMIM:600828": "ATP SYNTHASE PERIPHERAL STALK, SUBUNIT OSCP; ATP5PO", "OMIM:600829": "INOSITOL POLYPHOSPHATE PHOSPHATASE-LIKE 1; INPPL1", "OMIM:600830": "TRIPARTITE MOTIF-CONTAINING PROTEIN 26; TRIM26", "OMIM:600831": "DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1", "OMIM:600832": "ACIDIC NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER A; ANP32A", "OMIM:600833": "SUPPRESSOR OF TUMORIGENICITY 7; ST7", "OMIM:600834": "ZINC FINGER PROTEIN 165; ZNF165", "OMIM:600835": "CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12", "OMIM:600836": "CRYSTALLIN, BETA-A2; CRYBA2", "OMIM:600837": "GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF", "OMIM:600838": "FORKHEAD BOX N1; FOXN1", "OMIM:600839": "SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 1; SLC12A1", "OMIM:600840": "SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 2; SLC12A2", "OMIM:600841": "EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-1-LIKE 14; EEF1A1L14", "OMIM:600842": "GLUCOKINASE REGULATORY PROTEIN; GCKR", "OMIM:600843": "PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 3; P2RX3", "OMIM:600844": "PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 2; P2RX2", "OMIM:600845": "PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1", "OMIM:600846": "PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4", "OMIM:600848": "NUCLEAR RECEPTOR COREPRESSOR 2; NCOR2", "OMIM:600849": "NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1", "OMIM:600851": "MITOCHONDRIAL IMPORT-STIMULATING FACTOR", "OMIM:600853": "N-DEACETYLASE/N-SULFOTRANSFERASE 1; NDST1", "OMIM:600855": "DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A", "OMIM:600856": "CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C", "OMIM:600857": "SUCCINATE DEHYDROGENASE COMPLEX, FLAVOPROTEIN SUBUNIT A; SDHA", "OMIM:600859": "AMINOACYL tRNA SYNTHETASE COMPLEX-INTERACTING MULTIFUNCTIONAL PROTEIN 2; AIMP2", "OMIM:600860": "GENERAL TRANSCRIPTION FACTOR IIIA; GTF3A", "OMIM:600861": "REGULATOR OF G PROTEIN SIGNALING 2; RGS2", "OMIM:600862": "ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN WITH FG REPEATS 1; AGFG1", "OMIM:600863": "CASEIN KINASE I, EPSILON; CSNK1E", "OMIM:600864": "CASEIN KINASE I, DELTA; CSNK1D", "OMIM:600865": "RETICULON 1; RTN1", "OMIM:600866": "PROGRAMMED CELL DEATH 2; PDCD2", "OMIM:600867": "SIGNAL SEQUENCE RECEPTOR, BETA; SSR2", "OMIM:600868": "SIGNAL SEQUENCE RECEPTOR, ALPHA; SSR1", "OMIM:600869": "G PROTEIN-COUPLED RECEPTOR KINASE 6; GRK6", "OMIM:600870": "G PROTEIN-COUPLED RECEPTOR KINASE 5; GRK5", "OMIM:600871": "GROWTH FACTOR-INDEPENDENT 1; GFI1", "OMIM:600873": "CHITOBIASE, DI-N-ACETYL-; CTBS", "OMIM:600874": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-5; GNG5", "OMIM:600875": "ACYLPHOSPHATASE, ERYTHROCYTE; ACYP1", "OMIM:600876": "SYNTAXIN 3; STX3", "OMIM:600877": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 6; KCNJ6", "OMIM:600879": "NUCLEAR RESPIRATORY FACTOR 1; NRF1", "OMIM:600883": "TYPE 1 DIABETES MELLITUS 8; T1D8", "OMIM:600887": "MutS HOMOLOG 3; MSH3", "OMIM:600888": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; ARHGEF5", "OMIM:600889": "COMPLEMENT FACTOR H-RELATED 2; CFHR2", "OMIM:600890": "HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA", "OMIM:600892": "SIM bHLH TRANSCRIPTION FACTOR 2; SIM2", "OMIM:600895": "PROLACTIN-RELEASING HORMONE RECEPTOR; PRLHR", "OMIM:600896": "G PROTEIN-COUPLED RECEPTOR 14; GPR14", "OMIM:600897": "GAP JUNCTION PROTEIN, ALPHA-8; GJA8", "OMIM:600898": "SRY-BOX 11; SOX11", "OMIM:600899": "PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC", "OMIM:600900": "SARCOGLYCAN, BETA; SGCB", "OMIM:600902": "SELENOPHOSPHATE SYNTHETASE 1; SEPHS1", "OMIM:600903": "WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT", "OMIM:600904": "ASTROTACTIN 1; ASTN1", "OMIM:600907": "ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS", "OMIM:600909": "LANOSTEROL SYNTHASE; LSS", "OMIM:600910": "INSULIN-LIKE 4; INSL4", "OMIM:600911": "METALLOPHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 2; MPPED2", "OMIM:600912": "TRANSCRIPTION FACTOR 19; TCF19", "OMIM:600914": "SPLICING FACTOR, SERINE/ARGININE-RICH, 5; SRSF5", "OMIM:600915": "NESTIN; NES", "OMIM:600916": "INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD; INPP4A", "OMIM:600917": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A", "OMIM:600921": "FIBROBLAST GROWTH FACTOR 9; FGF9", "OMIM:600922": "MYOSIN LIGHT CHAIN KINASE; MYLK", "OMIM:600923": "PROTOPORPHYRINOGEN OXIDASE; PPOX", "OMIM:600924": "GROWTH FACTOR, ERV1-LIKE; GFER", "OMIM:600925": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J; PTPRJ", "OMIM:600926": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EPSILON; PTPRE", "OMIM:600927": "CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D", "OMIM:600928": "NITROGEN PERMEASE REGULATOR-LIKE 3; NPRL3", "OMIM:600929": "CRYSTALLIN, BETA-B1; CRYBB1", "OMIM:600930": "SPERM ADHESION MOLECULE 1; SPAM1", "OMIM:600931": "PROTOCADHERIN 3", "OMIM:600932": "POTASSIUM INWARDLY-RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 9; KCNJ9", "OMIM:600933": "COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1", "OMIM:600934": "FOLATE HYDROLASE 1; FOLH1", "OMIM:600935": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8", "OMIM:600936": "HYALURONAN-MEDIATED MOTILITY RECEPTOR; HMMR", "OMIM:600937": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11", "OMIM:600938": "RETINOBLASTOMA-BINDING PROTEIN 6; RBBP6", "OMIM:600939": "INTERLEUKIN 11 RECEPTOR, ALPHA; IL11RA", "OMIM:600940": "LIGASE III, DNA, ATP-DEPENDENT; LIG3", "OMIM:600941": "BILIVERDIN REDUCTASE B; BLVRB", "OMIM:600943": "SERPIN PEPTIDASE INHIBITOR, CLADE H, MEMBER 1; SERPINH1", "OMIM:600944": "DEOXYHYPUSINE SYNTHASE; DHPS", "OMIM:600945": "UROCORTIN; UCN", "OMIM:600946": "GROWTH HORMONE RECEPTOR; GHR", "OMIM:600947": "HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1", "OMIM:600948": "MYELIN-ASSOCIATED OLIGODENDROCYTE BASIC PROTEIN; MOBP", "OMIM:600949": "IMMUNOGLOBULIN HEAVY CHAIN VARIABLE REGION-2", "OMIM:600950": "ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT", "OMIM:600951": "TELOMERIC REPEAT-BINDING FACTOR 1; TERF1", "OMIM:600952": "TRANSSEXUALITY", "OMIM:600953": "INTERLEUKIN 18; IL18", "OMIM:600954": "DEATH-ASSOCIATED PROTEIN; DAP", "OMIM:600956": "ANTI-MULLERIAN HORMONE TYPE II RECEPTOR; AMHR2", "OMIM:600957": "ANTI-MULLERIAN HORMONE; AMH", "OMIM:600958": "MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3", "OMIM:600959": "COATOMER PROTEIN COMPLEX, SUBUNIT BETA 1; COPB1", "OMIM:600960": "SET NUCLEAR PROTOONCOGENE; SET", "OMIM:600963": "SIX HOMEOBOX 5; SIX5", "OMIM:600966": "LLGL SCRIBBLE CELL POLARITY COMPLEX COMPONENT 1; LLGL1", "OMIM:600967": "E2F TRANSCRIPTION FACTOR 5; E2F5", "OMIM:600968": "SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 3; SLC12A3", "OMIM:600970": "MYOSIN VI; MYO6", "OMIM:600976": "FAT ATYPICAL CADHERIN 1; FAT1", "OMIM:600978": "LYMPHOTOXIN-BETA; LTB", "OMIM:600979": "LYMPHOTOXIN B RECEPTOR; LTBR", "OMIM:600980": "DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1; DMP1", "OMIM:600981": "PHOSPHOGLUCOMUTASE 5; PGM5", "OMIM:600982": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 1; MAP3K1", "OMIM:600983": "NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2", "OMIM:600984": "ACTIVATING TRANSCRIPTION FACTOR 6, BETA; ATF6B", "OMIM:600985": "TENASCIN XB; TNXB", "OMIM:600986": "TRIPARTITE MOTIF-CONTAINING PROTEIN 46; TRIM46", "OMIM:600988": "MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 2; MAN2A2", "OMIM:600991": "HYDROCEPHALUS, SPRENGEL ANOMALY, AND COSTOVERTEBRAL DYSPLASIA", "OMIM:600993": "SMAD FAMILY MEMBER 4; SMAD4", "OMIM:600997": "EPHRIN RECEPTOR EphB2; EPHB2", "OMIM:600998": "GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ", "OMIM:600999": "MYC-ASSOCIATED ZINC FINGER PROTEIN; MAZ", "OMIM:601002": "GLUTATHIONE SYNTHETASE; GSS", "OMIM:601007": "LEPTIN RECEPTOR; LEPR", "OMIM:601009": "TIGHT JUNCTION PROTEIN 1; TJP1", "OMIM:601010": "TRANSCRIPTION FACTOR 15; TCF15", "OMIM:601011": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A", "OMIM:601012": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, N TYPE, ALPHA-1B SUBUNIT; CACNA1B", "OMIM:601013": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT; CACNA1E", "OMIM:601014": "DISCS LARGE MAGUK SCAFFOLD PROTEIN 1; DLG1", "OMIM:601015": "NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 2; NPC2", "OMIM:601016": "MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM", "OMIM:601017": "SYNTROPHIN, ALPHA-1; SNTA1", "OMIM:601019": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 9; SLC6A9", "OMIM:601020": "CD86 ANTIGEN; CD86", "OMIM:601021": "NUCLEOPORIN, 98-KD; NUP98", "OMIM:601022": "NUCLEAR FACTOR-KAPPA-B INHIBITOR-LIKE PROTEIN 1; NFKBIL1", "OMIM:601023": "VALOSIN-CONTAINING PROTEIN; VCP", "OMIM:601024": "ADAPTOR-RELATED PROTEIN COMPLEX 2, MU-1 SUBUNIT; AP2M1", "OMIM:601025": "ADAPTOR-RELATED PROTEIN COMPLEX 2, BETA-1 SUBUNIT; AP2B1", "OMIM:601026": "ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-1 SUBUNIT; AP2A1", "OMIM:601027": "TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES", "OMIM:601028": "CD47 ANTIGEN; CD47", "OMIM:601029": "MESODERM-SPECIFIC TRANSCRIPT; MEST", "OMIM:601030": "RIBONUCLEASE A FAMILY, MEMBER 4; RNASE4", "OMIM:601031": "RHOPHILIN 1; RHPN1", "OMIM:601032": "PROTEIN KINASE N1; PKN1", "OMIM:601033": "LAMININ, ALPHA-5; LAMA5", "OMIM:601035": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H1; HNRNPH1", "OMIM:601037": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN F; HNRNPF", "OMIM:601038": "DEIODINASE, IODOTHYRONINE, TYPE III; DIO3", "OMIM:601040": "SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1", "OMIM:601041": "TLE FAMILY MEMBER 2, TRANSCRIPTIONAL COREPRESSOR; TLE2", "OMIM:601045": "CATENIN, DELTA-1; CTNND1", "OMIM:601046": "MATRIX METALLOPROTEINASE 12; MMP12", "OMIM:601047": "CAVEOLIN 1; CAV1", "OMIM:601048": "CAVEOLIN 2; CAV2", "OMIM:601050": "REMOVED FROM DATABASE", "OMIM:601051": "MESOTHELIN; MSLN", "OMIM:601052": "PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1", "OMIM:601053": "PLEXIN B1; PLXNB1", "OMIM:601054": "PLEXIN A2; PLXNA2", "OMIM:601055": "PLEXIN A1; PLXNA1", "OMIM:601056": "BCL2-RELATED PROTEIN A1; BCL2A1", "OMIM:601057": "PROGRAMMED CELL DEATH 6; PDCD6", "OMIM:601058": "H3 HISTONE, FAMILY 3B; H3F3B", "OMIM:601060": "ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 2; ENPP2", "OMIM:601061": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D2; SNRPD2", "OMIM:601062": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D3; SNRPD3", "OMIM:601063": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D1; SNRPD1", "OMIM:601064": "ZINC FINGER PROTEIN 36-LIKE 1; ZFP36L1", "OMIM:601065": "ALANYL-tRNA SYNTHETASE 1; AARS1", "OMIM:601066": "OXIDASE, CYTOCHROME c, ASSEMBLY 1-LIKE; OXA1L", "OMIM:601069": "ZINC FINGER PROTEIN 239; ZNF239", "OMIM:601070": "INTERLEUKIN 15 RECEPTOR, ALPHA; IL15RA", "OMIM:601074": "CUGBP- AND ELAV-LIKE FAMILY, MEMBER 1; CELF1", "OMIM:601077": "KERATIN 31, TYPE I; KRT31", "OMIM:601078": "KERATIN 82, TYPE II; KRT82", "OMIM:601079": "ZRSR2 PSEUDOGENE 1; ZRSR2P1", "OMIM:601080": "U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 1-LIKE 4; U2AF1L4", "OMIM:601081": "ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2", "OMIM:601082": "UBIQUITIN-CONJUGATING ENZYME E2 H; UBE2H", "OMIM:601083": "CD4/CD8 T-CELL RATIO", "OMIM:601089": "FORKHEAD BOX F1; FOXF1", "OMIM:601090": "FORKHEAD BOX C1; FOXC1", "OMIM:601091": "FORKHEAD BOX D1; FOXD1", "OMIM:601092": "FORKHEAD BOX D4; FOXD4", "OMIM:601093": "FORKHEAD BOX I1; FOXI1", "OMIM:601094": "FORKHEAD BOX E3; FOXE3", "OMIM:601095": "HARROD SYNDROME", "OMIM:601096": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC", "OMIM:601097": "PERIPHERAL MYELIN PROTEIN 22; PMP22", "OMIM:601099": "SRC-LIKE ADAPTOR; SLA", "OMIM:601100": "HEAT SHOCK 70-KD PROTEIN 13; HSPA13", "OMIM:601102": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 2; EIF4A2", "OMIM:601103": "MICROFIBRILLAR-ASSOCIATED PROTEIN 5; MFAP5", "OMIM:601105": "CATHEPSIN K; CTSK", "OMIM:601106": "REMOVED FROM DATABASE", "OMIM:601107": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 2; ABCC2", "OMIM:601109": "5-HYDROXYTRYPTAMINE RECEPTOR 6; HTR6", "OMIM:601112": "THIOREDOXIN REDUCTASE 1; TXNRD1", "OMIM:601113": "HEAT-SHOCK PROTEIN FAMILY A (HSP70), MEMBER 4; HSPA4", "OMIM:601114": "MEMBRANE PROTEIN, PALMITOYLATED 3; MPP3", "OMIM:601115": "GLUTAMATE RECEPTOR, METABOTROPIC, 3; GRM3", "OMIM:601116": "GLUTAMATE RECEPTOR, METABOTROPIC, 8; GRM8", "OMIM:601117": "THIMET OLIGOPEPTIDASE 1; THOP1", "OMIM:601118": "CALCIUM-MODULATING LIGAND; CAMLG", "OMIM:601119": "CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP", "OMIM:601120": "CADHERIN 5; CDH5", "OMIM:601121": "PLACENTAL GROWTH FACTOR; PGF", "OMIM:601122": "5-HYDROXYTRYPTAMINE RECEPTOR 2B; HTR2B", "OMIM:601123": "ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 1; ST8SIA1", "OMIM:601124": "SEMAPHORIN 3F; SEMA3F", "OMIM:601125": "HEXOKINASE 2; HK2", "OMIM:601126": "TATA ELEMENT MODULATORY FACTOR 1; TMF1", "OMIM:601128": "H3 HISTONE, FAMILY 3A; H3F3A", "OMIM:601129": "CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8; CYP2C8", "OMIM:601130": "CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9", "OMIM:601131": "CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 18; CYP2C18", "OMIM:601132": "KINASE SUPPRESSOR OF RAS 1; KSR1", "OMIM:601133": "CYTOCHROME P450, FAMILY 2, SUBFAMILY G, MEMBER 1, PSEUDOGENE; CYP2G1P", "OMIM:601134": "OLIGOSACCHARYLTRANSFERASE COMPLEX, CATALYTIC SUBUNIT STT3A; STT3A", "OMIM:601135": "GASTRULATION BRAIN HOMEOBOX 2; GBX2", "OMIM:601136": "TRANSSUPPRESSOR OF EXPRESSION 2", "OMIM:601138": "GUANYLATE CYCLASE 2E, PSEUDOGENE; GUCY2EP", "OMIM:601139": "ZINC FINGER PROTEIN 175; ZNF175", "OMIM:601140": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14B; PPP1R14B", "OMIM:601141": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 1; KCNAB1", "OMIM:601142": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 2; KCNAB2", "OMIM:601143": "DYNACTIN 1; DCTN1", "OMIM:601145": "CYSTATIN B; CSTB", "OMIM:601146": "GROWTH/DIFFERENTIATION FACTOR 5; GDF5", "OMIM:601147": "GROWTH/DIFFERENTIATION FACTOR 6; GDF6", "OMIM:601148": "SPERM MITOCHONDRIA-ASSOCIATED CYSTEINE-RICH PROTEIN; SMCP", "OMIM:601149": "ISOCITRATE DEHYDROGENASE, NAD(+), 3, CATALYTIC SUBUNIT ALPHA; IDH3A", "OMIM:601150": "DEAD/H-BOX HELICASE 11; DDX11", "OMIM:601151": "DEAD/H-BOX HELICASE 12, PSEUDOGENE; DDX12P", "OMIM:601153": "FRAGILE HISTIDINE TRIAD DIADENOSINE TRIPHOSPHATASE; FHIT", "OMIM:601155": "MINOR HISTOCOMPATIBILITY ANTIGEN HA-1; HMHA1", "OMIM:601156": "CHEMOKINE, CC MOTIF, LIGAND 11; CCL11", "OMIM:601157": "DEFENSIN, ALPHA, 4; DEFA4", "OMIM:601158": "MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8", "OMIM:601159": "CHEMOKINE, CC MOTIF, RECEPTOR 1; CCR1", "OMIM:601160": "LISSENCEPHALY TYPE III AND BONE DYSPLASIA", "OMIM:601161": "TRISOMY 18-LIKE SYNDROME", "OMIM:601165": "CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE", "OMIM:601166": "G PROTEIN-COUPLED RECEPTOR 15; GPR15", "OMIM:601167": "PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 1; P2RY1", "OMIM:601168": "DIHYDROPYRIMIDINASE-LIKE 3; DPYSL3", "OMIM:601169": "REMOVED FROM DATABASE", "OMIM:601170": "MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS", "OMIM:601172": "CHONDROITIN SULFATE PROTEOGLYCAN 4; CSPG4", "OMIM:601175": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 2; ARL2", "OMIM:601176": "GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM", "OMIM:601177": "ADP-RIBOSYLATION FACTOR 4; ARF4", "OMIM:601178": "CELL CYCLE-ASSOCIATED PROTEIN 1; CAPRIN1", "OMIM:601179": "RAS-RELATED NUCLEAR PROTEIN; RAN", "OMIM:601180": "RAN-BINDING PROTEIN 1; RANBP1", "OMIM:601181": "RAN-BINDING PROTEIN 2; RANBP2", "OMIM:601182": "ORIGIN RECOGNITION COMPLEX, SUBUNIT 2; ORC2", "OMIM:601183": "CYSTEINE-RICH INTESTINAL PROTEIN 2; CRIP2", "OMIM:601184": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 3; DNAJC3", "OMIM:601185": "STANNIOCALCIN 1; STC1", "OMIM:601188": "SUPPRESSION OF TUMORIGENICITY 12; ST12", "OMIM:601189": "POLYMERASE II, RNA, SUBUNIT L; POLR2L", "OMIM:601190": "PHOSPHODIESTERASE 6H; PDE6H", "OMIM:601191": "ERH mRNA SPLICING AND MITOSIS FACTOR; ERH", "OMIM:601192": "PHOSPHOLIPASE A2, GROUP V; PLA2G5", "OMIM:601193": "CYSTEINE-RICH SECRETORY PROTEIN 1; CRISP1", "OMIM:601194": "TOLL-LIKE RECEPTOR 1; TLR1", "OMIM:601195": "IRON OVERLOAD IN AFRICA", "OMIM:601196": "PR DOMAIN-CONTAINING PROTEIN 2; PRDM2", "OMIM:601197": "TUB BIPARTITE TRANSCRIPTION FACTOR; TUB", "OMIM:601199": "CALCIUM-SENSING RECEPTOR; CASR", "OMIM:601201": "METHYLATION MODIFIER FOR CLASS I HLA", "OMIM:601203": "INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1", "OMIM:601204": "PROSTAGLANDIN F2 RECEPTOR NEGATIVE REGULATOR; PTGFRN", "OMIM:601205": "SIX HOMEOBOX 1; SIX1", "OMIM:601206": "POU CLASS 2 HOMEOBOX-ASSOCIATING FACTOR 1; POU2AF1", "OMIM:601207": "DIACYLGLYCEROL KINASE, THETA, 110-KD; DGKQ", "OMIM:601208": "TYPE 1 DIABETES MELLITUS 11; T1D11", "OMIM:601209": "POLY(rC)-BINDING PROTEIN 1; PCBP1", "OMIM:601210": "POLY(rC)-BINDING PROTEIN 2; PCBP2", "OMIM:601211": "ADHESION G PROTEIN-COUPLED RECEPTOR E5; ADGRE5", "OMIM:601212": "PROTEIN-TYROSINE KINASE 2, BETA; PTK2B", "OMIM:601213": "ATP-BINDING CASSETTE, SUBFAMILY E, MEMBER 1; ABCE1", "OMIM:601215": "ATR SERINE/THREONINE KINASE; ATR", "OMIM:601217": "ALOPECIA-IMPAIRED INTELLECTUAL DEVELOPMENTAL SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM", "OMIM:601218": "ADENOSINE DEAMINASE, RNA-SPECIFIC, B1; ADARB1", "OMIM:601220": "OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH", "OMIM:601221": "TISSUE-SPECIFIC EXTINGUISHER 3", "OMIM:601225": "DISHEVELLED 1-LIKE 1; DVL1L1", "OMIM:601231": "MECHANISTIC TARGET OF RAPAMYCIN; MTOR", "OMIM:601232": "PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG", "OMIM:601233": "INHIBIN, BETA C; INHBC", "OMIM:601234": "NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE; NACA", "OMIM:601235": "DEAD-BOX HELICASE 10; DDX10", "OMIM:601236": "DAB ADAPTOR PROTEIN 2; DAB2", "OMIM:601237": "RING FINGER PROTEIN 112; RNF112", "OMIM:601239": "DYSTROBREVIN, ALPHA; DTNA", "OMIM:601240": "GUANIDINOACETATE METHYLTRANSFERASE; GAMT", "OMIM:601241": "HISTONE DEACETYLASE 1; HDAC1", "OMIM:601242": "MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, ALPHA; MAP1LC3A", "OMIM:601243": "TOPOISOMERASE, DNA, III, ALPHA; TOP3A", "OMIM:601244": "GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-2; GUCY1A2", "OMIM:601245": "CHROMATIN ASSEMBLY FACTOR I, SUBUNIT B; CHAF1B", "OMIM:601246": "CHROMATIN ASSEMBLY FACTOR I, SUBUNIT A; CHAF1A", "OMIM:601247": "SOS RAS/RAC GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; SOS2", "OMIM:601248": "BRIDGING INTEGRATOR 1; BIN1", "OMIM:601249": "PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE-ASSOCIATED PROTEIN 1; PRPSAP1", "OMIM:601250": "PEPTIDE METHIONINE SULFOXIDE REDUCTASE; MSRA", "OMIM:601252": "FICOLIN 1; FCN1", "OMIM:601253": "CAVEOLIN 3; CAV3", "OMIM:601254": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE 6; MAP2K6", "OMIM:601255": "KINESIN FAMILY MEMBER 1A; KIF1A", "OMIM:601257": "DEAD-BOX HELICASE 1; DDX1", "OMIM:601258": "CYTOCHROME P450, SUBFAMILY IIJ, POLYPEPTIDE 2; CYP2J2", "OMIM:601259": "AMELOBLASTIN ENAMEL MATRIX PROTEIN; AMBN", "OMIM:601260": "ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 1; ZKSCAN1", "OMIM:601261": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 21; ZSCAN21", "OMIM:601262": "ZINC FINGER PROTEIN 16; ZNF16", "OMIM:601263": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2", "OMIM:601265": "NODAL GROWTH DIFFERENTIATION FACTOR; NODAL", "OMIM:601266": "dUTP PYROPHOSPHATASE; DUT", "OMIM:601267": "CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2", "OMIM:601268": "CHEMOKINE, CC MOTIF, RECEPTOR 3; CCR3", "OMIM:601269": "COMPLEMENT COMPONENT C1q-BINDING PROTEIN; C1QBP", "OMIM:601270": "CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 3; CYP4F3", "OMIM:601271": "GUANYLATE CYCLASE ACTIVATOR 2B; GUCA2B", "OMIM:601272": "SORTING NEXIN 1; SNX1", "OMIM:601273": "CLATHRIN, HEAVY POLYPEPTIDE-LIKE 1; CLTCL1", "OMIM:601274": "PROSTAGLANDIN REDUCTASE 1; PTGR1", "OMIM:601275": "GLYCOPROTEIN M6A; GPM6A", "OMIM:601276": "ZINC FINGER PROTEIN 177; ZNF177", "OMIM:601278": "FSHD REGION GENE 1; FRG1", "OMIM:601279": "DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6", "OMIM:601280": "MAB21-LIKE 1; MAB21L1", "OMIM:601281": "SEMAPHORIN 3B; SEMA3B", "OMIM:601282": "PLECTIN; PLEC", "OMIM:601283": "TYPE 2 DIABETES MELLITUS 1; T2D1", "OMIM:601284": "ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1", "OMIM:601285": "PROTEASOME 26S SUBUNIT SEM1; SEM1", "OMIM:601288": "TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, ZETA ISOFORM; YWHAZ", "OMIM:601289": "TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, BETA ISOFORM; YWHAB", "OMIM:601290": "STRATIFIN; SFN", "OMIM:601291": "URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 8; UGT8", "OMIM:601292": "SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 2; SULT1A2", "OMIM:601293": "RAS HOMOLOG ENRICHED IN BRAIN; RHEB", "OMIM:601294": "REMOVED FROM DATABASE", "OMIM:601295": "SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 2; SLC10A2", "OMIM:601296": "MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK", "OMIM:601297": "SRY-BOX 15; SOX15", "OMIM:601299": "BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A", "OMIM:601300": "ACTIVIN A RECEPTOR, TYPE IB; ACVR1B", "OMIM:601301": "PEPTIDYL-PROLYL ISOMERASE-LIKE 1; PPIL1", "OMIM:601302": "PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA; PPP3R1", "OMIM:601303": "CYTOSKELETON-ASSOCIATED PROTEIN 1; CKAP1", "OMIM:601304": "SMALL NUCLEAR RIBONUCLEOPROTEIN (U4/U6.U5), SNU13 HOMOLOG; SNU13", "OMIM:601305": "5-HYDROXYTRYPTAMINE RECEPTOR 5A; HTR5A", "OMIM:601306": "HEMATOPOIETIC CELL-SPECIFIC LYN SUBSTRATE 1; HCLS1", "OMIM:601308": "MYELOID TUMOR SUPPRESSOR", "OMIM:601309": "PATCHED 1; PTCH1", "OMIM:601310": "CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11", "OMIM:601311": "STEROL O-ACYLTRANSFERASE 2; SOAT2", "OMIM:601313": "POLYCYSTIN 1; PKD1", "OMIM:601314": "HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1; HINT1", "OMIM:601315": "EPITHELIAL BASOLATERAL CHLORIDE CONDUCTANCE REGULATOR, RABBIT, HOMOLOG OF", "OMIM:601318": "TYPE 1 DIABETES MELLITUS 13; T1D13", "OMIM:601323": "NUCLEOBINDIN 1; NUCB1", "OMIM:601324": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; HNRNPD", "OMIM:601325": "CONTACTIN 3; CNTN3", "OMIM:601326": "CLAUDIN 11; CLDN11", "OMIM:601327": "SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 2; SCN2B", "OMIM:601328": "SODIUM CHANNEL, EPITHELIAL 1, DELTA SUBUNIT; SCNN1D", "OMIM:601329": "LIM DOMAIN KINASE 1; LIMK1", "OMIM:601330": "GUANYLATE CYCLASE 2C; GUCY2C", "OMIM:601332": "MOHAWK HOMEOBOX; MKX", "OMIM:601333": "SPT6 HOMOLOG, HISTONE CHAPERONE AND TRANSCRIPTION ELONGATION FACTOR; SUPT6H", "OMIM:601334": "KINESIN LIGHT CHAIN 3; KLC3", "OMIM:601335": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4", "OMIM:601336": "MANNOSYL-OLIGOSACCHARIDE GLYCOSIDASE; MOGS", "OMIM:601337": "REGULATORY FACTOR X, 3; RFX3", "OMIM:601340": "MIA SH3 DOMAIN-CONTAINING PROTEIN; MIA", "OMIM:601342": "CHROMOSOME SEGREGATION 1-LIKE; CSE1L", "OMIM:601347": "MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY", "OMIM:601348": "ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA", "OMIM:601350": "SHORT STATURE SYNDROME, BRUSSELS TYPE", "OMIM:601351": "GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION", "OMIM:601361": "GROWTH/DIFFERENTIATION FACTOR 10; GDF10", "OMIM:601362": "DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME COMPLEX 2", "OMIM:601364": "CADHERIN 13; CDH13", "OMIM:601365": "DISHEVELLED 1; DVL1", "OMIM:601366": "SMAD FAMILY MEMBER 2; SMAD2", "OMIM:601368": "DISHEVELLED 3; DVL3", "OMIM:601373": "CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5", "OMIM:601375": "ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE", "OMIM:601376": "CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY", "OMIM:601380": "EPHRIN A4; EFNA4", "OMIM:601381": "EPHRIN A3; EFNA3", "OMIM:601383": "AQUAPORIN 6; AQP6", "OMIM:601384": "LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS E; LY6E", "OMIM:601385": "TUMOR SUPPRESSOR CANDIDATE 3; TUSC3", "OMIM:601387": "TUMOR SUSCEPTIBILITY GENE 101; TSG101", "OMIM:601388": "TYPE 1 DIABETES MELLITUS 12; T1D12", "OMIM:601391": "CHEMOKINE, CC MOTIF, LIGAND 13; CCL13", "OMIM:601392": "CHEMOKINE, CC MOTIF, LIGAND 14; CCL14", "OMIM:601393": "CHEMOKINE, CC MOTIF, LIGAND 15; CCL15", "OMIM:601394": "CHEMOKINE, CC MOTIF, LIGAND 16; CCL16", "OMIM:601395": "CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 1; CCL3L1", "OMIM:601396": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8B; WNT8B", "OMIM:601397": "T-BOX TRANSCRIPTION FACTOR T; TBXT", "OMIM:601398": "VASCULAR ENDOTHELIAL GROWTH FACTOR B; VEGFB", "OMIM:601401": "MYELOID LEUKEMIA FACTOR 2; MLF2", "OMIM:601402": "MYELOID LEUKEMIA FACTOR 1; MLF1", "OMIM:601403": "DEDICATOR OF CYTOKINESIS 1; DOCK1", "OMIM:601404": "G PROTEIN-COUPLED RECEPTOR 68; GPR68", "OMIM:601405": "CHYMOTRYPSIN C; CTRC", "OMIM:601406": "BAF CHROMATIN REMODELING COMPLEX SUBUNIT BCL7A; BCL7A", "OMIM:601407": "TYPE 2 DIABETES MELLITUS 2; T2D2", "OMIM:601408": "LYSINE ACETYLTRANSFERASE 6A; KAT6A", "OMIM:601409": "LYSINE ACETYLTRANSFERASE 5; KAT5", "OMIM:601411": "SARCOGLYCAN, DELTA; SGCD", "OMIM:601413": "DEIODINASE, IODOTHYRONINE, TYPE II; DIO2", "OMIM:601415": "MYB PROTOONCOGENE LIKE 2; MYBL2", "OMIM:601416": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 7; SLC39A7", "OMIM:601417": "17-BETA-HYDROXYSTEROID DEHYDROGENASE VIII; HSD17B8", "OMIM:601418": "RIBOSOME BINDING PROTEIN 1; RRBP1", "OMIM:601420": "MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE", "OMIM:601421": "LYSYL-tRNA SYNTHETASE 1; KARS1", "OMIM:601422": "LEUCINE ZIPPER PROTEIN 1; LUZP1", "OMIM:601423": "THYMINE-DNA GLYCOSYLASE; TDG", "OMIM:601424": "3-OXOACID CoA TRANSFERASE 1; OXCT1", "OMIM:601425": "TRANSCRIPTION ELONGATION FACTOR A, 1; TCEA1", "OMIM:601426": "NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 2; NR2C2", "OMIM:601428": "RNA, U4ATAC SMALL NUCLEAR; RNU4ATAC", "OMIM:601429": "RNA, U6ATAC SMALL NUCLEAR; RNU6ATAC", "OMIM:601430": "UPF1 RNA HELICASE AND ATPase; UPF1", "OMIM:601431": "tRNA ALANINE (ANTICODON TGC) 7-1; TRA-TGC7-1", "OMIM:601432": "tRNA ARGININE (ANTICODON TCG) 4-1; TRR-TCG4-1", "OMIM:601434": "S-PHASE KINASE-ASSOCIATED PROTEIN 1; SKP1", "OMIM:601435": "S-PHASE KINASE-ASSOCIATED PROTEIN 1 PSEUDOGENE 2; SKP1P2", "OMIM:601436": "S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2", "OMIM:601437": "Fc FRAGMENT OF IgG RECEPTOR AND TRANSPORTER; FCGRT", "OMIM:601439": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9", "OMIM:601440": "DIACYLGLYCEROL KINASE, EPSILON, 64-KD; DGKE", "OMIM:601441": "DIACYLGLYCEROL KINASE, ZETA, 104-KD: DGKZ", "OMIM:601442": "COFILIN 1; CFL1", "OMIM:601443": "COFILIN 2; CFL2", "OMIM:601444": "BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 1; BLOC1S1", "OMIM:601445": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT B9; NDUFB9", "OMIM:601447": "UBIQUITIN-SPECIFIC PROTEASE 5; USP5", "OMIM:601448": "NUCLEAR PROTEIN, ATAXIA-TELANGIECTASIA LOCUS; NPAT", "OMIM:601450": "DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM", "OMIM:601452": "OCULOAURICULOFRONTONASAL SYNDROME; OAFNS", "OMIM:601454": "PSORIASIS 3, SUSCEPTIBILITY TO; PSORS3", "OMIM:601456": "MULTIMERIN 1; MMRN1", "OMIM:601458": "INFLAMMATORY BOWEL DISEASE 2; IBD2", "OMIM:601459": "PREPRONOCICEPTIN; PNOC", "OMIM:601460": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2A1; SLCO2A1", "OMIM:601461": "ATONAL bHLH TRANSCRIPTION FACTOR 1; ATOH1", "OMIM:601463": "HYALURONAN SYNTHASE 1; HAS1", "OMIM:601464": "ALF TRANSCRIPTION ELONGATION FACTOR 3; AFF3", "OMIM:601465": "DEOXYGUANOSINE KINASE; DGUOK", "OMIM:601467": "MITOTIC ARREST-DEFICIENT 2 LIKE 1; MAD2L1", "OMIM:601468": "METHIONINE ADENOSYLTRANSFERASE II, ALPHA; MAT2A", "OMIM:601469": "PARATHYROID HORMONE 2 RECEPTOR; PTH2R", "OMIM:601470": "CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1", "OMIM:601473": "ZINC FINGER PROTEIN 75A; ZNF75A", "OMIM:601475": "PWP2 SMALL SUBUNIT PROCESSOME COMPONENT; PWP2", "OMIM:601476": "LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 5; LAPTM5", "OMIM:601478": "MYOSIN IA; MYO1A", "OMIM:601479": "MYOSIN IE; MYO1E", "OMIM:601480": "MYOSIN IF; MYO1F", "OMIM:601481": "MYOSIN X; MYO10", "OMIM:601482": "DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1", "OMIM:601483": "PATERNALLY EXPRESSED GENE 3; PEG3", "OMIM:601484": "SELENOPROTEIN P; SELENOP", "OMIM:601485": "SYNTAXIN 1B; STX1B", "OMIM:601486": "DELETED IN AZOOSPERMIA-LIKE; DAZL", "OMIM:601487": "PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG", "OMIM:601488": "NEUTROPHIL CYTOSOLIC FACTOR 4; NCF4", "OMIM:601489": "INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS", "OMIM:601490": "NUCLEAR FACTOR ERYTHROID 2, p45 SUBUNIT; NFE2", "OMIM:601491": "IMPRINTED IN PRADER-WILLI SYNDROME; IPW", "OMIM:601496": "GDNF FAMILY RECEPTOR ALPHA-1; GFRA1", "OMIM:601497": "BAG COCHAPERONE 1; BAG1", "OMIM:601498": "PEROXISOME BIOGENESIS FACTOR 6; PEX6", "OMIM:601500": "SMOOTHENED, FRIZZLED CLASS RECEPTOR; SMO", "OMIM:601501": "VPS35 RETROMER COMPLEX COMPONENT; VPS35", "OMIM:601502": "Fc FRAGMENT OF IgG RECEPTOR Ib; FCGR1B", "OMIM:601503": "Fc FRAGMENT OF IgG RECEPTOR Ic, PSEUDOGENE; FCGR1CP", "OMIM:601504": "SEC14-LIKE LIPID-BINDING PROTEIN 1; SEC14L1", "OMIM:601505": "ZINC FINGER PROTEIN 146; ZNF146", "OMIM:601506": "SEPTIN 2; SEPT2", "OMIM:601507": "ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-1 SUBUNIT; AP3S1", "OMIM:601509": "GAMMA-GLUTAMYL HYDROLASE; GGH", "OMIM:601510": "SREBP CLEAVAGE-ACTIVATING PROTEIN; SCAP", "OMIM:601511": "SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A", "OMIM:601512": "SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6", "OMIM:601513": "FIBROBLAST GROWTH FACTOR 12; FGF12", "OMIM:601514": "FIBROBLAST GROWTH FACTOR 11; FGF11", "OMIM:601515": "FIBROBLAST GROWTH FACTOR 14; FGF14", "OMIM:601516": "SPLICING FACTOR 1; SF1", "OMIM:601517": "ATAXIN 2; ATXN2", "OMIM:601519": "ATP SYNTHASE MEMBRANE SUBUNIT E; ATP5ME", "OMIM:601520": "CHEMOKINE, CC MOTIF, LIGAND 17; CCL17", "OMIM:601521": "ENDOTHELIAL CELL-SPECIFIC MOLECULE 1; ESM1", "OMIM:601522": "GROWTH FACTOR RECEPTOR-BOUND PROTEIN 7; GRB7", "OMIM:601523": "GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10", "OMIM:601524": "GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14", "OMIM:601525": "CHITINASE 3-LIKE 1; CHI3L1", "OMIM:601526": "CHITINASE 3-LIKE 2; CHI3L2", "OMIM:601527": "ARISTALESS-LIKE HOMEOBOX 1; ALX1", "OMIM:601528": "VASCULAR ENDOTHELIAL GROWTH FACTOR C; VEGFC", "OMIM:601529": "NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 1; NR2C1", "OMIM:601530": "SEQUESTOSOME 1; SQSTM1", "OMIM:601531": "LEUKOTRIENE B4 RECEPTOR; LTB4R", "OMIM:601532": "CASPASE 6, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP6", "OMIM:601533": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 2; ADAM2", "OMIM:601534": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 3; KCNJ3", "OMIM:601535": "EPHRIN A5; EFNA5", "OMIM:601537": "MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT", "OMIM:601538": "PROP PAIRED-LIKE HOMEOBOX 1; PROP1", "OMIM:601540": "BROMODOMAIN-CONTAINING PROTEIN 2; BRD2", "OMIM:601541": "BROMODOMAIN-CONTAINING PROTEIN 3; BRD3", "OMIM:601542": "PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2", "OMIM:601545": "PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT; PAFAH1B1", "OMIM:601546": "PROSPERO-RELATED HOMEOBOX 1; PROX1", "OMIM:601548": "EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1", "OMIM:601550": "BLOOD GROUP--SWANN SYSTEM; SW", "OMIM:601551": "BLOOD GROUP--FROESE", "OMIM:601554": "DYNEIN, LIGHT CHAIN, TCTEX TYPE, 1; DYNLT1", "OMIM:601555": "RHO FAMILY GTPase 2; RND2", "OMIM:601556": "ATAXIN 1; ATXN1", "OMIM:601557": "ACETYL-CoA CARBOXYLASE-BETA; ACACB", "OMIM:601558": "RNA-BINDING PROTEIN, mRNA-PROCESSING FACTOR; RBPMS", "OMIM:601560": "MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE", "OMIM:601561": "DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA", "OMIM:601562": "DYNEIN, LIGHT CHAIN, LC8 TYPE, 1; DYNLL1", "OMIM:601564": "PROTEASE, SERINE, 2; PRSS2", "OMIM:601565": "INTERFERON REGULATORY FACTOR 8; IRF8", "OMIM:601566": "INHIBITOR OF GROWTH 1; ING1", "OMIM:601567": "LECTIN, MANNOSE-BINDING 1; LMAN1", "OMIM:601568": "ADDUCIN 3; ADD3", "OMIM:601569": "UBIQUITIN-CONJUGATING ENZYME E2 G1; UBE2G1", "OMIM:601570": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A", "OMIM:601571": "CAPPING PROTEIN, ALPHA-2; CAPZA2", "OMIM:601572": "CAPPING PROTEIN, BETA; CAPZB", "OMIM:601573": "ENHANCER OF ZESTE 2 POLYCOMB REPRESSIVE COMPLEX 2 SUBUNIT; EZH2", "OMIM:601574": "TAF15 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 68-KD; TAF15", "OMIM:601575": "FOS-LIKE 2, AP-1 TRANSCRIPTION FACTOR SUBUNIT; FOSL2", "OMIM:601576": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA; PTPRS", "OMIM:601577": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C POLYPEPTIDE-ASSOCIATED PROTEIN; PTPRCAP", "OMIM:601578": "CYCLIN G1; CCNG1", "OMIM:601579": "ORNITHINE DECARBOXYLASE ANTIZYME 1; OAZ1", "OMIM:601580": "CAPPING PROTEIN, ALPHA-1; CAPZA1", "OMIM:601581": "NEURONAL CELL ADHESION MOLECULE; NRCAM", "OMIM:601582": "INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D", "OMIM:601584": "PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 2; PTP4A2", "OMIM:601585": "PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 1; PTP4A1", "OMIM:601586": "PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4", "OMIM:601589": "RAS p21 PROTEIN ACTIVATOR 2; RASA2", "OMIM:601590": "ENVOPLAKIN; EVPL", "OMIM:601591": "PROTEIN KINASE, cGMP-DEPENDENT, TYPE II; PRKG2", "OMIM:601592": "RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN", "OMIM:601593": "BRCA1-ASSOCIATED RING DOMAIN 1; BARD1", "OMIM:601594": "JUMONJI, AT-RICH INTERACTIVE DOMAIN 2; JARID2", "OMIM:601595": "SMAD FAMILY MEMBER 1; SMAD1", "OMIM:601597": "B-CELL ANTIPROLIFERATION FACTOR 2; BTG2", "OMIM:601598": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, DELTA; PTPRD", "OMIM:601599": "SARCOSPAN; SSPN", "OMIM:601600": "ETS VARIANT TRANSCRIPTION FACTOR 5; ETV5", "OMIM:601601": "TRANSCRIPTION FACTOR AP2-BETA; TFAP2B", "OMIM:601602": "TRANSCRIPTION FACTOR AP2-GAMMA; TFAP2C", "OMIM:601603": "LYMPHOCYTE CYTOSOLIC PROTEIN 2; LCP2", "OMIM:601604": "INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1", "OMIM:601607": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1", "OMIM:601609": "3-HYDROXYACYL-CoA DEHYDROGENASE; HADH", "OMIM:601610": "BUTYROPHILIN, SUBFAMILY 1, MEMBER A1; BTN1A1", "OMIM:601611": "SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 2; SLC14A2", "OMIM:601613": "CHEMOKINE, CXC MOTIF, RECEPTOR 5; CXCR5", "OMIM:601614": "NETRIN 1; NTN1", "OMIM:601615": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3", "OMIM:601617": "RETINOL DEHYDROGENASE 5; RDH5", "OMIM:601618": "SRY-BOX 18; SOX18", "OMIM:601619": "RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR; RALGDS", "OMIM:601620": "T-BOX TRANSCRIPTION FACTOR 5; TBX5", "OMIM:601621": "T-BOX TRANSCRIPTION FACTOR 3; TBX3", "OMIM:601622": "TWIST FAMILY bHLH TRANSCRIPTION FACTOR 1; TWIST1", "OMIM:601623": "UBIQUITIN-PROTEIN LIGASE E3A; UBE3A", "OMIM:601624": "FICOLIN 2; FCN2", "OMIM:601625": "ADP-RIBOSYLTRANSFERASE 1; ART1", "OMIM:601627": "SURVIVAL OF MOTOR NEURON 2; SMN2", "OMIM:601629": "PURKINJE CELL PROTEIN 4; PCP4", "OMIM:601632": "POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 1; POU4F1", "OMIM:601633": "N-ETHYLMALEIMIDE-SENSITIVE FACTOR; NSF", "OMIM:601636": "HYALURONAN SYNTHASE 2; HAS2", "OMIM:601637": "CYTOCHROME P450, FAMILY 51, SUBFAMILY A, POLYPEPTIDE 1; CYP51A1", "OMIM:601638": "ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 2; ARFIP2", "OMIM:601639": "PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, ALPHA; PRKACA", "OMIM:601641": "ACYL-CoA OXIDASE 2, BRANCHED-CHAIN; ACOX2", "OMIM:601642": "INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2", "OMIM:601643": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), ALPHA; PPP2R5A", "OMIM:601644": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), BETA; PPP2R5B", "OMIM:601645": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), GAMMA; PPP2R5C", "OMIM:601646": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), DELTA; PPP2R5D", "OMIM:601647": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), EPSILON; PPP2R5E", "OMIM:601648": "PROTEASOME 26S SUBUNIT, NON-ATPase, 4; PSMD4", "OMIM:601651": "NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 4; NAP1L4", "OMIM:601652": "MYOCILIN; MYOC", "OMIM:601653": "EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 1; EYA1", "OMIM:601654": "EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 2; EYA2", "OMIM:601655": "EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 3; EYA3", "OMIM:601656": "GATA-BINDING PROTEIN 6; GATA6", "OMIM:601657": "EPIPHYCAN; EPYC", "OMIM:601658": "OTOCONIN 90; OC90", "OMIM:601659": "GLUTAMINE AMIDOTRANSFERASE-LIKE CLASS 1 DOMAIN-CONTAINING PROTEIN 3A; GATD3A", "OMIM:601661": "UBIQUITIN-CONJUGATING ENZYME E2 I; UBE2I", "OMIM:601662": "ACTIVATED LEUKOCYTE CELL ADHESION MOLECULE; ALCAM", "OMIM:601663": "ESTROGEN RECEPTOR 2; ESR2", "OMIM:601664": "SMALL NUCLEAR RIBONUCLEOPROTEIN, 200-KD; SNRNP200", "OMIM:601667": "ANGIOPOIETIN 1; ANGPT1", "OMIM:601668": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; SEMDAD", "OMIM:601670": "D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 1; DPF1", "OMIM:601671": "D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2", "OMIM:601672": "D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 3; DPF3", "OMIM:601673": "ELAV-LIKE RNA-BINDING PROTEIN 2; ELAVL2", "OMIM:601674": "ENHANCER OF ZESTE 1 POLYCOMB REPRESSIVE COMPLEX 2 SUBUNIT; EZH1", "OMIM:601676": "ACUTE INSULIN RESPONSE", "OMIM:601677": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A5; NDUFA5", "OMIM:601679": "GENERAL TRANSCRIPTION FACTOR II-I; GTF2I", "OMIM:601681": "PROTEASOME 26S SUBUNIT, ATPase, 5; PSMC5", "OMIM:601683": "COENZYME Q7, HYDROXYLASE; COQ7", "OMIM:601684": "RIBOSOMAL PROTEIN S6 KINASE A1; RPS6KA1", "OMIM:601685": "RIBOSOMAL PROTEIN S6 KINASE A2; RPS6KA2", "OMIM:601686": "TELOMERASE-ASSOCIATED PROTEIN 1; TEP1", "OMIM:601687": "KERATIN 12, TYPE I; KRT12", "OMIM:601688": "15-HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD", "OMIM:601689": "TAF4B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 105-KD; TAF4B", "OMIM:601690": "PHOSPHOLIPASE A2, GROUP VII; PLA2G7", "OMIM:601691": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4", "OMIM:601692": "TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI", "OMIM:601693": "UNCOUPLING PROTEIN 2; UCP2", "OMIM:601694": "LEPTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; LEPQTL1", "OMIM:601695": "CASEIN, KAPPA; CSN3", "OMIM:601696": "NOVELTY SEEKING PERSONALITY TRAIT", "OMIM:601697": "SERPIN FAMILY B, MEMBER 8; SERPINB8", "OMIM:601698": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N, POLYPEPTIDE 2; PTPRN2", "OMIM:601699": "PROSTAGLANDIN I2 SYNTHASE; PTGIS", "OMIM:601702": "RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1", "OMIM:601703": "VASODILATOR-STIMULATED PHOSPHOPROTEIN; VASP", "OMIM:601704": "CHEMOKINE, CXC MOTIF, LIGAND 9; CXCL9", "OMIM:601710": "EUKARYOTIC TRANSLATION INITIATION FACTOR 5; EIF5", "OMIM:601711": "TNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1", "OMIM:601712": "BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2; BIRC2", "OMIM:601713": "GLIA MATURATION FACTOR, BETA; GMFB", "OMIM:601714": "TEA DOMAIN FAMILY MEMBER 4; TEAD4", "OMIM:601716": "STAUFEN DOUBLE-STRANDED RNA-BINDING PROTEIN 1; STAU1", "OMIM:601717": "SYNTAXIN-BINDING PROTEIN 2; STXBP2", "OMIM:601719": "T-BOX TRANSCRIPTION FACTOR 4; TBX4", "OMIM:601720": "KIN17 DNA- AND RNA-BINDING PROTEIN; KIN", "OMIM:601721": "BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 3; BIRC3", "OMIM:601723": "FRIZZLED CLASS RECEPTOR 5; FZD5", "OMIM:601724": "NEUROGENIC DIFFERENTIATION 1; NEUROD1", "OMIM:601725": "NEUROGENIC DIFFERENTIATION 2; NEUROD2", "OMIM:601726": "NEUROGENIN 1; NEUROG1", "OMIM:601728": "PHOSPHATASE AND TENSIN HOMOLOG; PTEN", "OMIM:601729": "TEA DOMAIN FAMILY MEMBER 2; TEAD2", "OMIM:601730": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS C PROTEIN; PIGC", "OMIM:601731": "5-AMINOIMIDAZOLE-4-CARBOXAMIDE RIBONUCLEOTIDE FORMYLTRANSFERASE/IMP CYCLOHYDROLASE; ATIC", "OMIM:601732": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 1; SMARCC1", "OMIM:601733": "GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2", "OMIM:601734": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 2; SMARCC2", "OMIM:601735": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 1; SMARCD1", "OMIM:601736": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 2; SMARCD2", "OMIM:601737": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 3; SMARCD3", "OMIM:601738": "EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 1; EXTL1", "OMIM:601739": "MEIS HOMEOBOX 1; MEIS1", "OMIM:601740": "MEIS HOMEOBOX 2; MEIS2", "OMIM:601741": "CULLIN 5; CUL5", "OMIM:601742": "TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28", "OMIM:601743": "ONCOSTATIN M RECEPTOR; OSMR", "OMIM:601744": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1", "OMIM:601745": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 1; KCNK1", "OMIM:601746": "HYPOXIA UP-REGULATED 1; HYOU1", "OMIM:601747": "TRIPARTITE MOTIF-CONTAINING PROTEIN 23; TRIM23", "OMIM:601748": "GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 2; GTF2H2", "OMIM:601749": "GLOMULIN; GLMN", "OMIM:601750": "GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 3; GTF2H3", "OMIM:601751": "MELANIN-CONCENTRATING HORMONE RECEPTOR 1; MCHR1", "OMIM:601752": "ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 1; ENTPD1", "OMIM:601753": "PEPTIDYL-PROLYL ISOMERASE D; PPID", "OMIM:601754": "UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L", "OMIM:601755": "ESS2 SPLICING FACTOR HOMOLOG; ESS2", "OMIM:601756": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3; GALNT3", "OMIM:601757": "PEROXISOME BIOGENESIS FACTOR 7; PEX7", "OMIM:601758": "PEROXISOME BIOGENESIS FACTOR 12; PEX12", "OMIM:601760": "GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 4; GTF2H4", "OMIM:601761": "CASPASE 7, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP7", "OMIM:601762": "CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10", "OMIM:601763": "CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8", "OMIM:601766": "FRIZZLED CLASS RECEPTOR 9; FZD9", "OMIM:601767": "HUNTINGTIN-INTERACTING PROTEIN 1; HIP1", "OMIM:601768": "SH3 DOMAIN, GRB2-LIKE, 1; SH3GL1", "OMIM:601769": "VITAMIN D RECEPTOR; VDR", "OMIM:601770": "NEUROPEPTIDE Y RECEPTOR Y6; NPY6R", "OMIM:601771": "CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1", "OMIM:601772": "H2A HISTONE FAMILY, MEMBER X; H2AFX", "OMIM:601773": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N; PTPRN", "OMIM:601774": "ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT5", "OMIM:601775": "MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE; MEGAF", "OMIM:601778": "POLYMERASE, RNA, MITOCHONDRIAL; POLRMT", "OMIM:601782": "TESTIS-ASSOCIATED ACTIN-MODELING KINASE 1; TESK1", "OMIM:601783": "MICROTUBULE-ASSOCIATED PROTEIN 6; MAP6", "OMIM:601784": "ACID-SENSING ION CHANNEL, SUBUNIT 2; ASIC2", "OMIM:601785": "PHOSPHOMANNOMUTASE 2; PMM2", "OMIM:601786": "PHOSPHOMANNOMUTASE 1; PMM1", "OMIM:601787": "TAF5 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 100-KD; TAF5", "OMIM:601788": "MYOSTATIN; MSTN", "OMIM:601789": "PEROXISOME BIOGENESIS FACTOR 13; PEX13", "OMIM:601790": "PANCREATIC POLYPEPTIDE RECEPTOR 1; PPYR1", "OMIM:601791": "PEROXISOME BIOGENESIS FACTOR 14; PEX14", "OMIM:601792": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 2; PPP1R2", "OMIM:601795": "MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3", "OMIM:601796": "TAF4 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 135-KD; TAF4", "OMIM:601797": "CRYSTALLIN BETA-GAMMA DOMAIN-CONTAINING PROTEIN 1; CRYBG1", "OMIM:601798": "GLUCOSAMINE-6-PHOSPHATE DEAMINASE 1; GNPDA1", "OMIM:601799": "PROTEASE INHIBITOR 9, OVALBUMIN TYPE; PI9", "OMIM:601800": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3", "OMIM:601801": "TRANSCRIPTION FACTOR Sp2; SP2", "OMIM:601802": "HESX HOMEOBOX 1; HESX1", "OMIM:601804": "TRANSCRIPTION FACTOR Sp3; SP3", "OMIM:601805": "G PROTEIN-COUPLED ESTROGEN RECEPTOR 1; GPER1", "OMIM:601806": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 6; MCM6", "OMIM:601807": "MATRIX METALLOPROTEINASE 19; MMP19", "OMIM:601810": "DNA REPLICATION HELICASE/NUCLEASE 2; DNA2", "OMIM:601814": "FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2; FXYD2", "OMIM:601816": "BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1", "OMIM:601817": "NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 3; NME3", "OMIM:601818": "NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 4; NME4", "OMIM:601819": "BROMODOMAIN PHD FINGER TRANSCRIPTION FACTOR; BPTF", "OMIM:601821": "RNA, Y1 SMALL CYTOPLASMIC; RNY1", "OMIM:601822": "RNA, Y3 SMALL CYTOPLASMIC; RNY3", "OMIM:601823": "RNA, Y4 SMALL CYTOPLASMIC; RNY4", "OMIM:601824": "RNA, Y5 SMALL CYTOPLASMIC; RNY5", "OMIM:601825": "NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7", "OMIM:601826": "DIACYLGLYCEROL KINASE, DELTA, 130-KD; DGKD", "OMIM:601828": "NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2", "OMIM:601829": "ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE", "OMIM:601831": "HISTONE GENE CLUSTER 2, H2B HISTONE FAMILY, MEMBER E; HIST2H2BE", "OMIM:601832": "RIBOSOMAL PROTEIN L29; RPL29", "OMIM:601833": "ALLOGRAFT INFLAMMATORY FACTOR 1; AIF1", "OMIM:601834": "CHEMOKINE, CC MOTIF, RECEPTOR 8; CCR8", "OMIM:601835": "CHEMOKINE, CC MOTIF, RECEPTOR 6; CCR6", "OMIM:601836": "KINESIN-ASSOCIATED PROTEIN 3; KIFAP3", "OMIM:601837": "LIGASE IV, DNA, ATP-DEPENDENT; LIG4", "OMIM:601838": "INOSITOL 1,3,4-TRISPHOSPHATE 5/6-KINASE; ITPK1", "OMIM:601839": "EPHRIN RECEPTOR EphB3; EPHB3", "OMIM:601841": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 5; SERPINA5", "OMIM:601843": "SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5", "OMIM:601844": "PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4", "OMIM:601845": "GOOSECOID HOMEOBOX 2; GSC2", "OMIM:601848": "TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 20; TOMM20", "OMIM:601851": "CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK", "OMIM:601852": "INTERCELLULAR ADHESION MOLECULE 5; ICAM5", "OMIM:601854": "DIACYLGLYCEROL KINASE, GAMMA, 90-KD; DGKG", "OMIM:601855": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARHGEF1", "OMIM:601856": "ZINC FINGER PROTEIN 211; ZNF211", "OMIM:601858": "CALMEGIN; CLGN", "OMIM:601860": "17-BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4", "OMIM:601861": "REGULATORY FACTOR X-ASSOCIATED PROTEIN; RFXAP", "OMIM:601863": "REGULATORY FACTOR X, 5; RFX5", "OMIM:601865": "PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; PLOD2", "OMIM:601866": "SEMAPHORIN 4D; SEMA4D", "OMIM:601867": "ATPase, Na+/K+ TRANSPORTING, BETA-3 POLYPEPTIDE; ATP1B3", "OMIM:601870": "METHIONINE AMINOPEPTIDASE 2; METAP2", "OMIM:601871": "CYSTEINE- AND GLYCINE-RICH PROTEIN 2; CSRP2", "OMIM:601872": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 2; SLC7A2", "OMIM:601873": "BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B4GALNT1", "OMIM:601874": "ELONGATION FACTOR, RNA POLYMERASE II, 2; ELL2", "OMIM:601876": "SPERM-SPECIFIC ANTIGEN 1; SSFA1", "OMIM:601877": "LEFT-RIGHT DETERMINATION FACTOR 2; LEFTY2", "OMIM:601878": "KRUPPEL-LIKE FACTOR 10; KLF10", "OMIM:601879": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 9; LGALS9", "OMIM:601880": "CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1", "OMIM:601881": "RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX", "OMIM:601882": "DNA FRAGMENTATION FACTOR, 45-KD, ALPHA SUBUNIT; DFFA", "OMIM:601883": "DNA FRAGMENTATION FACTOR, 40-KD, BETA SUBUNIT; DFFB", "OMIM:601884": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1", "OMIM:601886": "ACHAETE-SCUTE FAMILY bHLH TRANSCRIPTION FACTOR 2; ASCL2", "OMIM:601888": "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6", "OMIM:601889": "NEUROBEACHIN PSEUDOGENE 1; NBEAP1", "OMIM:601890": "PROTEIN-TYROSINE KINASE PTK7; PTK7", "OMIM:601891": "CYSTATIN 6; CST6", "OMIM:601892": "KARYOPHERIN ALPHA-3; KPNA3", "OMIM:601893": "TRIPLE FUNCTIONAL DOMAIN; TRIO", "OMIM:601895": "TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2", "OMIM:601896": "TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3", "OMIM:601897": "ZINC FINGER PROTEIN 148; ZNF148", "OMIM:601898": "GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR", "OMIM:601899": "SIGNAL-TRANSDUCING ADAPTOR MOLECULE 1; STAM", "OMIM:601900": "INTERFERON REGULATORY FACTOR 4; IRF4", "OMIM:601901": "SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A2; SLC8A2", "OMIM:601902": "ORIGIN RECOGNITION COMPLEX, SUBUNIT 1; ORC1", "OMIM:601903": "URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17", "OMIM:601905": "RAB GERANYLGERANYL TRANSFERASE, ALPHA SUBUNIT; RABGGTA", "OMIM:601906": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10B; WNT10B", "OMIM:601907": "NEOGENIN; NEO1", "OMIM:601908": "G PROTEIN-COUPLED RECEPTOR 20; GPR20", "OMIM:601909": "G PROTEIN-COUPLED RECEPTOR 21; GPR21", "OMIM:601910": "G PROTEIN-COUPLED RECEPTOR 22; GPR22", "OMIM:601911": "DISTAL-LESS HOMEOBOX 4; DLX4", "OMIM:601912": "SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1", "OMIM:601913": "GUIDED ENTRY OF TAIL-ANCHORED PROTEINS FACTOR 3, ATPase; GET3", "OMIM:601914": "PROLINE-ARGININE-RICH END LEUCINE-RICH REPEAT PROTEIN; PRELP", "OMIM:601915": "TISSUE INHIBITOR OF METALLOPROTEINASE 4; TIMP4", "OMIM:601916": "MESENCEPHALIC ASTROCYTE-DERIVED NEUROTROPHIC FACTOR; MANF", "OMIM:601917": "ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B2; ALDH3B2", "OMIM:601918": "GROWTH/DIFFERENTIATION FACTOR 9; GDF9", "OMIM:601919": "COAGULATION FACTOR II RECEPTOR-LIKE 2; F2RL2", "OMIM:601920": "JAGGED 1; JAG1", "OMIM:601922": "ANGIOPOIETIN 2; ANGPT2", "OMIM:601924": "COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA", "OMIM:601925": "RHO GDP-DISSOCIATION INHIBITOR ALPHA; ARHGDIA", "OMIM:601926": "THYROID HORMONE-RESPONSIVE PROTEIN; THRSP", "OMIM:601928": "KERATIN 86, TYPE II; KRT86", "OMIM:601929": "ATPase, Ca(2+)-TRANSPORTING, UBIQUITOUS; ATP2A3", "OMIM:601930": "BASONUCLIN 1; BNC1", "OMIM:601931": "BCL2-LIKE 2; BCL2L2", "OMIM:601932": "MUCIN 8, TRACHEOBRONCHIAL; MUC8", "OMIM:601933": "CRYPTOCHROME 1; CRY1", "OMIM:601934": "G PROTEIN PATHWAY SUPPRESSOR 1; GPS1", "OMIM:601935": "G PROTEIN PATHWAY SUPPRESSOR 2; GPS2", "OMIM:601936": "PRKC, APOPTOSIS, WT1, REGULATOR; PAWR", "OMIM:601937": "NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3", "OMIM:601939": "SRSF PROTEIN KINASE 1; SRPK1", "OMIM:601940": "SPLICING FACTOR, SERINE/ARGININE-RICH, 4; SRSF4", "OMIM:601943": "SPLICING FACTOR, SERINE/ARGININE-RICH, 9; SRSF9", "OMIM:601944": "SPLICING FACTOR, SERINE/ARGININE-RICH, 6; SRSF6", "OMIM:601945": "SPLICING FACTOR, SUPPRESSOR-OF-WHITE-APRICOT FAMILY; SFSWAP", "OMIM:601947": "SRY-BOX 12; SOX12", "OMIM:601949": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4", "OMIM:601950": "ZINC FINGER PROTEIN, FOG FAMILY MEMBER 1; ZFPM1", "OMIM:601951": "CDC-LIKE KINASE 1; CLK1", "OMIM:601953": "CYCLIN H; CCNH", "OMIM:601955": "CYCLIN-DEPENDENT KINASE 7; CDK7", "OMIM:601956": "GDNF FAMILY RECEPTOR ALPHA-2; GFRA2", "OMIM:601958": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-3 SUBUNIT; CACNB3", "OMIM:601959": "NIMA-RELATED KINASE 4; NEK4", "OMIM:601960": "CHEMOKINE, CC MOTIF, LIGAND 20; CCL20", "OMIM:601961": "PROTEIN ARGININE METHYLTRANSFERASE 2; PRMT2", "OMIM:601962": "TAP-BINDING PROTEIN; TAPBP", "OMIM:601963": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 1; TTC1", "OMIM:601964": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 7; DNAJC7", "OMIM:601965": "SPHINGOSINE-1-PHOSPHATE RECEPTOR 3; S1PR3", "OMIM:601966": "REGULATORY SOLUTE CARRIER PROTEIN, FAMILY 1, MEMBER 1; RSC1A1", "OMIM:601967": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7B; WNT7B", "OMIM:601968": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2B; WNT2B", "OMIM:601969": "DELETED IN MALIGNANT BRAIN TUMORS 1; DMBT1", "OMIM:601970": "VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 2; VIPR2", "OMIM:601972": "RAR-RELATED ORPHAN RECEPTOR B; RORB", "OMIM:601973": "RETINOIC ACID RECEPTOR RESPONDER 2; RARRES2", "OMIM:601974": "SPHINGOSINE-1-PHOSPHATE RECEPTOR 1; S1PR1", "OMIM:601975": "PLAKOPHILIN 1; PKP1", "OMIM:601976": "OTOFACIOOSSEOUS-GONADAL SYNDROME", "OMIM:601978": "SIGMA NONOPIOID INTRACELLULAR RECEPTOR 1; SIGMAR1", "OMIM:601980": "LIPASE, GASTRIC; LIPF", "OMIM:601981": "RIBONUCLEASE A FAMILY, MEMBER 6; RNASE6", "OMIM:601982": "8-OXOGUANINE DNA GLYCOSYLASE; OGG1", "OMIM:601983": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 1; MAP4K1", "OMIM:601984": "NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4", "OMIM:601985": "COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6", "OMIM:601987": "CARNITINE PALMITOYLTRANSFERASE I, MUSCLE; CPT1B", "OMIM:601988": "LIM DOMAIN KINASE 2; LIMK2", "OMIM:601989": "S100 CALCIUM-BINDING PROTEIN A13; S100A13", "OMIM:601990": "TUMOR PROTEIN p73; TP73", "OMIM:601991": "NOVA ALTERNATIVE SPLICING REGULATOR 2; NOVA2", "OMIM:601993": "NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2", "OMIM:601994": "TRANSFER RNA ARGININE", "OMIM:601995": "TENASCIN R; TNR", "OMIM:601997": "BH3-INTERACTING DOMAIN DEATH AGONIST; BID", "OMIM:601998": "ESTROGEN-RELATED RECEPTOR, ALPHA; ESRRA", "OMIM:601999": "LIM HOMEOBOX GENE 1; LHX1", "OMIM:602000": "POLYMERASE I, RNA, SUBUNIT B; POLR1B", "OMIM:602001": "NEUROPEPTIDE Y RECEPTOR Y5; NPY5R", "OMIM:602002": "ZYXIN; ZYX", "OMIM:602003": "LYMPHOID-RESTRICTED MEMBRANE PROTEIN; LRMP", "OMIM:602004": "PROTEIN-TYROSINE KINASE 6; PTK6", "OMIM:602005": "SORTILIN-RELATED RECEPTOR; SORL1", "OMIM:602006": "MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2", "OMIM:602007": "CRK-LIKE PROTOONCOGENE, ADAPTOR PROTEIN; CRKL", "OMIM:602008": "IMPORTIN 5; IPO5", "OMIM:602009": "CYTOCHROME c OXIDASE, SUBUNIT 6A2; COX6A2", "OMIM:602010": "SPLICING FACTOR, SERINE/ARGININE-RICH, 11; SRSF11", "OMIM:602011": "SUPPRESSOR OF TUMORIGENICITY 11; ST11", "OMIM:602012": "ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 2; ENTPD2", "OMIM:602013": "POLYMERASE II, RNA, SUBUNIT G; POLR2G", "OMIM:602015": "OUTER DENSE FIBER OF SPERM TAILS 2; ODF2", "OMIM:602016": "KRUPPEL-LIKE FACTOR 2; KLF2", "OMIM:602017": "PROTEASOME SUBUNIT, BETA-TYPE, 1; PSMB1", "OMIM:602018": "NEURTURIN; NRTN", "OMIM:602019": "SQUALENE EPOXIDASE; SQLE", "OMIM:602020": "MAF bZIP TRANSCRIPTION FACTOR G; MAFG", "OMIM:602021": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A", "OMIM:602022": "MAL-LIKE; MALL", "OMIM:602023": "CHLORIDE CHANNEL, KIDNEY, B; CLCNKB", "OMIM:602024": "CHLORIDE CHANNEL, KIDNEY, A; CLCNKA", "OMIM:602025": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9", "OMIM:602026": "PHYTANOYL-CoA HYDROXYLASE; PHYH", "OMIM:602027": "TELOMERIC REPEAT-BINDING FACTOR 2; TERF2", "OMIM:602029": "REMOVED FROM DATABASE", "OMIM:602030": "FUCOSYLTRANSFERASE 7; FUT7", "OMIM:602031": "PROTEIN GERANYLGERANYLTRANSFERASE TYPE I, BETA SUBUNIT; PGGT1B", "OMIM:602033": "ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 1; EML1", "OMIM:602034": "CORTICOTROPIN-RELEASING HORMONE RECEPTOR 2; CRHR2", "OMIM:602035": "PROTEIN PHOSPHATASE 4, CATALYTIC SUBUNIT; PPP4C", "OMIM:602037": "RAS HOMOLOG GENE FAMILY, MEMBER H; RHOH", "OMIM:602038": "DUAL-SPECIFICITY PHOSPHATASE 8; DUSP8", "OMIM:602039": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT A; EIF3A", "OMIM:602040": "CELL ADHESION MOLECULE, NEURAL, 2; NCAM2", "OMIM:602041": "NK3 HOMEOBOX 1; NKX3-1", "OMIM:602042": "G PROTEIN-COUPLED RECEPTOR 18; GPR18", "OMIM:602043": "G PROTEIN-COUPLED RECEPTOR 31; GPR31", "OMIM:602044": "UNCOUPLING PROTEIN 3; UCP3", "OMIM:602045": "RING FINGER PROTEIN 1; RING1", "OMIM:602046": "PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 3; PDIA3", "OMIM:602047": "PHOSPHODIESTERASE 3B; PDE3B", "OMIM:602048": "RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1", "OMIM:602049": "RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2; RAC2", "OMIM:602050": "RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 3; RAC3", "OMIM:602051": "PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1-LIKE; PIN1L", "OMIM:602052": "CYCLIN G-ASSOCIATED KINASE; GAK", "OMIM:602053": "KRUPPEL-LIKE FACTOR 6; KLF6", "OMIM:602054": "T-BOX TRANSCRIPTION FACTOR 1; TBX1", "OMIM:602055": "INSULIN-INDUCED GENE 1; INSIG1", "OMIM:602056": "DEFENSIN, BETA, 1; DEFB1", "OMIM:602058": "PROTEASE INHIBITOR 10; PI10", "OMIM:602059": "IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR", "OMIM:602060": "TRANSMEMBRANE SERINE PROTEASE 2; TMPRSS2", "OMIM:602061": "EPIREGULIN; EREG", "OMIM:602062": "NERVE INJURY-INDUCED PROTEIN 1; NINJ1", "OMIM:602063": "TRANSALDOLASE 1; TALDO1", "OMIM:602064": "MYOINOSITOL MONOPHOSPHATASE 1; IMPA1", "OMIM:602065": "ADENOSINE DEAMINASE, RNA-SPECIFIC, B2; ADARB2", "OMIM:602069": "NEUROPILIN 1; NRP1", "OMIM:602070": "NEUROPILIN 2; NRP2", "OMIM:602072": "CYTOCHROME c OXIDASE, SUBUNIT 6A1; COX6A1", "OMIM:602074": "DEATH-ASSOCIATED PROTEIN 3; DAP3", "OMIM:602075": "SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1", "OMIM:602076": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1; TRPV1", "OMIM:602090": "LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 3; LTBP3", "OMIM:602091": "LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2", "OMIM:602095": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4", "OMIM:602098": "POLO-LIKE KINASE 1; PLK1", "OMIM:602100": "PBX/KNOTTED 1 HOMEOBOX 1; PKNOX1", "OMIM:602101": "CLAUDIN 5; CLDN5", "OMIM:602102": "SPT5 HOMOLOG, DSIF ELONGATION FACTOR SUBUNIT; SUPT5H", "OMIM:602103": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 10; TRAPPC10", "OMIM:602104": "SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2", "OMIM:602105": "MutS HOMOLOG 4; MSH4", "OMIM:602106": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 15; KCNJ15", "OMIM:602107": "NEUROPATHY, HEREDITARY THERMOSENSITIVE", "OMIM:602108": "MATRILIN 2; MATN2", "OMIM:602109": "MATRILIN 3; MATN3", "OMIM:602110": "SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC29A2", "OMIM:602112": "METALLOPHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 1; MPPED1", "OMIM:602113": "LYSINE-SPECIFIC METHYLTRANSFERASE 2D; KMT2D", "OMIM:602115": "FIBROBLAST GROWTH FACTOR 10; FGF10", "OMIM:602116": "YEATS DOMAIN-CONTAINING PROTEIN 4; YEATS4", "OMIM:602117": "NECDIN; NDN", "OMIM:602118": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1; CHD1", "OMIM:602119": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2", "OMIM:602120": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 3; CHD3", "OMIM:602121": "DIAPHANOUS-RELATED FORMIN 1; DIAPH1", "OMIM:602122": "SIGNAL RECOGNITION PARTICLE, 72-KD; SRP72", "OMIM:602123": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G", "OMIM:602125": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX10; COX10", "OMIM:602126": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 14; ZBTB14", "OMIM:602127": "SMOOTHELIN; SMTN", "OMIM:602128": "GROWTH ARREST-SPECIFIC 2-LIKE 1; GAS2L1", "OMIM:602129": "MYOSIN IXB; MYO9B", "OMIM:602130": "MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3; MAPKAPK3", "OMIM:602131": "PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 2; PHLDA2", "OMIM:602132": "MIA SH3 DOMAIN ER EXPORT FACTOR 2; MIA2", "OMIM:602133": "PHOSPHORIBOSYLFORMYLGLYCINAMIDINE SYNTHASE; PFAS", "OMIM:602135": "DYNEIN, AXONEMAL, LIGHT INTERMEDIATE POLYPEPTIDE 1; DNALI1", "OMIM:602136": "PEROXISOME BIOGENESIS FACTOR 1; PEX1", "OMIM:602137": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A2; NDUFA2", "OMIM:602138": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A6; NDUFA6", "OMIM:602139": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A7; NDUFA7", "OMIM:602140": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT B8; NDUFB8", "OMIM:602141": "NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8; NDUFS8", "OMIM:602142": "PHOSPHOLIPASE C, DELTA-1; PLCD1", "OMIM:602143": "TUMOR PROTEIN p53-BINDING PROTEIN 2; TP53BP2", "OMIM:602144": "BROMODOMAIN, TESTIS-SPECIFIC; BRDT", "OMIM:602145": "PROLIFERATION-ASSOCIATED 2G4, 38-KD; PA2G4", "OMIM:602146": "LIM HOMEOBOX GENE 4; LHX4", "OMIM:602147": "REMOVED FROM DATABASE", "OMIM:602148": "SRY-BOX 1; SOX1", "OMIM:602149": "PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1", "OMIM:602150": "SNAIL FAMILY TRANSCRIPTIONAL REPRESSOR 2; SNAI2", "OMIM:602151": "DISHEVELLED 2; DVL2", "OMIM:602153": "KERATIN 81, TYPE II; KRT81", "OMIM:602154": "NONCODING TRANSCRIPT IN T CELLS", "OMIM:602155": "UBX DOMAIN PROTEIN 8; UBXN8", "OMIM:602157": "NOVA ALTERNATIVE SPLICING REGULATOR 1; NOVA1", "OMIM:602158": "CHLORIDE CHANNEL, NUCLEOTIDE SENSITIVE, 1A; CLNS1A", "OMIM:602159": "CORONIN 2A; CORO2A", "OMIM:602160": "TRANSCRIPTION FACTOR DP2; TFDP2", "OMIM:602161": "PROTEASOME ACTIVATOR SUBUNIT 2; PSME2", "OMIM:602162": "SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1", "OMIM:602163": "UBIQUITIN-CONJUGATING ENZYME E2 E2; UBE2E2", "OMIM:602164": "5-HYDROXYTRYPTAMINE RECEPTOR 4; HTR4", "OMIM:602165": "TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27", "OMIM:602166": "ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-2 SUBUNIT; AP3B2", "OMIM:602167": "ESTROGEN-RELATED RECEPTOR, BETA; ESRRB", "OMIM:602168": "VRK SERINE/THREONINE KINASE 1; VRK1", "OMIM:602169": "VRK SERINE/THREONINE KINASE 2; VRK2", "OMIM:602170": "MYD88 INNATE IMMUNE SIGNAL TRANSDUCTION ADAPTOR; MYD88", "OMIM:602171": "GLYCOPROTEIN A33; GPA33", "OMIM:602172": "CYTOCHROME P450, SUBFAMILY VIIIB, POLYPEPTIDE 1; CYP8B1", "OMIM:602173": "SEC62 HOMOLOG, PREPROTEIN TRANSLOCATION FACTOR; SEC62", "OMIM:602174": "G PROTEIN-COUPLED RECEPTOR 25; GPR25", "OMIM:602175": "PROTEASOME SUBUNIT, BETA-TYPE, 2; PSMB2", "OMIM:602176": "PROTEASOME SUBUNIT, BETA-TYPE, 3; PSMB3", "OMIM:602177": "PROTEASOME SUBUNIT, BETA-TYPE, 4; PSMB4", "OMIM:602178": "CHONDROADHERIN; CHAD", "OMIM:602179": "HEAT-SHOCK 27-KD PROTEIN 2; HSPB2", "OMIM:602180": "SIGNAL-INDUCED PROLIFERATION-ASSOCIATED GENE 1; SIPA1", "OMIM:602181": "STAPHYLOCOCCAL NUCLEASE DOMAIN- AND TUDOR DOMAIN-CONTAINING PROTEIN 1; SND1", "OMIM:602182": "ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 3; ENPP3", "OMIM:602183": "NK3 HOMEOBOX 2; NKX3-2", "OMIM:602184": "NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 3; NDUFV3", "OMIM:602186": "VGF, NERVE GROWTH FACTOR-INDUCIBLE; VGF", "OMIM:602187": "ZINC FINGER PROTEIN 195; ZNF195", "OMIM:602188": "EPHRIN RECEPTOR EphA4; EPHA4", "OMIM:602189": "REGULATOR OF G PROTEIN SIGNALING 3; RGS3", "OMIM:602190": "EPHRIN RECEPTOR EphA7; EPHA7", "OMIM:602191": "E74-LIKE ETS TRANSCRIPTION FACTOR 3; ELF3", "OMIM:602192": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10", "OMIM:602193": "SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC29A1", "OMIM:602194": "HTRA SERINE PEPTIDASE 1; HTRA1", "OMIM:602195": "HEAT-SHOCK 27-KD PROTEIN 1; HSPB1", "OMIM:602198": "CDK2-ASSOCIATED PROTEIN 1; CDK2AP1", "OMIM:602201": "EXTRACELLULAR MATRIX PROTEIN 1; ECM1", "OMIM:602202": "DOLICHYL-DIPHOSPHOOLIGOSACCHARIDE-PROTEIN GLYCOSYLTRANSFERASE; DDOST", "OMIM:602203": "SARCOLIPIN; SLN", "OMIM:602204": "BICD CARGO ADAPTOR 1; BICD1", "OMIM:602206": "RAS-ASSOCIATED PROTEIN RAB17; RAB17", "OMIM:602207": "RAS-ASSOCIATED PROTEIN RAB18; RAB18", "OMIM:602208": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 10; KCNJ10", "OMIM:602209": "RAS-RESPONSIVE ELEMENT BINDING PROTEIN 1; RREB1", "OMIM:602210": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT E; EIF3E", "OMIM:602211": "FORKHEAD BOX D2; FOXD2", "OMIM:602212": "SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 1; SIAH1", "OMIM:602213": "SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 2; SIAH2", "OMIM:602214": "CASEIN KINASE I, GAMMA-2; CSNK1G2", "OMIM:602215": "DEFENSIN, BETA, 4A; DEFB4A", "OMIM:602216": "SERINE/THREONINE PROTEIN KINASE 11; STK11", "OMIM:602217": "SYNDECAN-BINDING PROTEIN; SDCBP", "OMIM:602218": "SAL-LIKE 1; SALL1", "OMIM:602219": "SAL-LIKE 2; SALL2", "OMIM:602220": "RAS-LIKE, FAMILY 10, MEMBER A; RASL10A", "OMIM:602221": "ZINC FINGER, MYM-TYPE 2; ZMYM2", "OMIM:602223": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 1; EIF4EBP1", "OMIM:602224": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2; EIF4EBP2", "OMIM:602225": "CONE-ROD HOMEOBOX-CONTAINING GENE; CRX", "OMIM:602226": "CD180 ANTIGEN; CD180", "OMIM:602227": "CHEMOKINE, CC MOTIF, LIGAND 19; CCL19", "OMIM:602228": "TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2", "OMIM:602229": "SRY-BOX 10; SOX10", "OMIM:602230": "SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN; SH3BGR", "OMIM:602231": "SMALL UBIQUITIN-LIKE MODIFIER 3; SUMO3", "OMIM:602232": "POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3; KCNQ3", "OMIM:602233": "APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1", "OMIM:602234": "CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9", "OMIM:602235": "POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2", "OMIM:602238": "EXOSOME COMPONENT 2; EXOSC2", "OMIM:602239": "CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 1; CYP26A1", "OMIM:602240": "ZINC FINGER PROTEIN 192; ZNF192", "OMIM:602241": "MITOCHONDRIAL INTERMEDIATE PEPTIDASE; MIPEP", "OMIM:602242": "ADAPTOR-RELATED PROTEIN COMPLEX 2, SIGMA-1 SUBUNIT; AP2S1", "OMIM:602243": "CD151 ANTIGEN; CD151", "OMIM:602244": "DEOXYRIBONUCLEASE I-LIKE 3; DNASE1L3", "OMIM:602245": "GTP-BINDING PROTEIN 1; GTPBP1", "OMIM:602246": "ZINC FINGER PROTEIN 193; ZNF193", "OMIM:602249": "PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES", "OMIM:602250": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9", "OMIM:602251": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10; TIMM10", "OMIM:602252": "MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM12, YEAST, HOMOLOG OF", "OMIM:602253": "KRUPPEL-LIKE FACTOR 4; KLF4", "OMIM:602254": "SRR1 DOMAIN-CONTAINING PROTEIN; SRRD", "OMIM:602255": "SERINE/THREONINE PROTEIN KINASE 25; STK25", "OMIM:602256": "PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 2; PPEF2", "OMIM:602257": "SCAVENGER RECEPTOR CLASS B, MEMBER 2; SCARB2", "OMIM:602259": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3; TTC3", "OMIM:602260": "PERIOD CIRCADIAN REGULATOR 1; PER1", "OMIM:602261": "MATRIX METALLOPROTEINASE 15; MMP15", "OMIM:602262": "MATRIX METALLOPROTEINASE 16; MMP16", "OMIM:602264": "SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN; SPOCK1", "OMIM:602265": "NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 9; NEDD9", "OMIM:602267": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 8; ADAM8", "OMIM:602268": "AMINE OXIDASE, COPPER-CONTAINING, 2; AOC2", "OMIM:602269": "ARVCF DELTA CATENIN FAMILY MEMBER; ARVCF", "OMIM:602270": "ANTIOXIDANT PROTEIN 1; ATOX1", "OMIM:602272": "TRANSCRIPTION FACTOR 4; TCF4", "OMIM:602273": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 1; GALNT1", "OMIM:602274": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 2; GALNT2", "OMIM:602275": "GUANYLATE CYCLASE ACTIVATOR 1B; GUCA1B", "OMIM:602276": "TRANSCRIPTIONAL ADAPTOR 2A; TADA2A", "OMIM:602277": "ZINC FINGER PROTEIN 184; ZNF184", "OMIM:602278": "NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4; NEDD4", "OMIM:602279": "POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1", "OMIM:602280": "TUB-LIKE PROTEIN 1; TULP1", "OMIM:602281": "MILK FAT GLOBULE-EGF FACTOR 8; MFGE8", "OMIM:602282": "LYSOPHOSPHATIDIC ACID RECEPTOR 1; LPAR1", "OMIM:602283": "CHEMOKINE, CC MOTIF, LIGAND 8; CCL8", "OMIM:602284": "BONE MORPHOGENETIC PROTEIN 8B; BMP8B", "OMIM:602285": "MATRIX METALLOPROTEINASE 17; MMP17", "OMIM:602286": "STEROL C5-DESATURASE; SC5D", "OMIM:602287": "ENDOPLASMIC RETICULUM PROTEIN, 29-KD; ERP29", "OMIM:602288": "RHOTEKIN; RTKN", "OMIM:602289": "DR1-ASSOCIATED PROTEIN 1; DRAP1", "OMIM:602290": "TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32", "OMIM:602291": "FORKHEAD BOX J1; FOXJ1", "OMIM:602292": "ENOYL-CoA HYDRATASE, SHORT-CHAIN, 1, MITOCHONDRIAL; ECHS1", "OMIM:602293": "CALCIUM- AND INTEGRIN-BINDING PROTEIN 1; CIB1", "OMIM:602294": "FORKHEAD BOX A1; FOXA1", "OMIM:602295": "FORKHEAD BOX A3; FOXA3", "OMIM:602296": "ADAPTOR-RELATED PROTEIN COMPLEX 4, MU-1 SUBUNIT; AP4M1", "OMIM:602297": "EPHRIN B3; EFNB3", "OMIM:602298": "RAS-ASSOCIATED PROTEIN RAB7A; RAB7A", "OMIM:602300": "GALACTOSE-3-O-SULFOTRANSFERASE 1; GAL3ST1", "OMIM:602301": "LYSINE ACETYLTRANSFERASE 2A; KAT2A", "OMIM:602302": "HR LYSINE DEMETHYLASE AND NUCLEAR RECEPTOR COREPRESSOR; HR", "OMIM:602303": "LYSINE ACETYLTRANSFERASE 2B; KAT2B", "OMIM:602304": "NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 2; NR1D2", "OMIM:602306": "RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 2; RGL2", "OMIM:602307": "WW DOMAIN-CONTAINING PROTEIN 1; WWP1", "OMIM:602308": "WW DOMAIN-CONTAINING PROTEIN 2; WWP2", "OMIM:602309": "TUB-LIKE PROTEIN 2; TULP2", "OMIM:602310": "RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 1; RBMS1", "OMIM:602311": "AGOUTI-RELATED NEUROPEPTIDE; AGRP", "OMIM:602313": "OVO-LIKE 1; OVOL1", "OMIM:602314": "LADININ 1; LAD1", "OMIM:602315": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE 3; MAP2K3", "OMIM:602316": "PEROXIREDOXIN 6; PRDX6", "OMIM:602317": "SH3 AND CYSTEINE-RICH DOMAINS 1; STAC1", "OMIM:602318": "TRANSCRIPTION TERMINATION FACTOR 1, MITOCHONDRIAL; MTERF1", "OMIM:602319": "NEURAL EPIDERMAL GROWTH FACTOR-LIKE PROTEIN 1; NELL1", "OMIM:602320": "NEURAL EPIDERMAL GROWTH FACTOR-LIKE PROTEIN 2; NELL2", "OMIM:602321": "GLUTATHIONE S-TRANSFERASE, KAPPA-1; GSTK1", "OMIM:602322": "TELOMERASE RNA COMPONENT; TERC", "OMIM:602323": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 12; KCNJ12", "OMIM:602324": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H3; HNRNPH3", "OMIM:602325": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 2; EIF4G2", "OMIM:602326": "RIBOSOMAL PROTEIN L23A; RPL23A", "OMIM:602327": "PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN; PSD", "OMIM:602329": "SUPPRESSOR OF LIN12-LIKE; SEL1L", "OMIM:602330": "ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 1; ABLIM1", "OMIM:602331": "ORIGIN RECOGNITION COMPLEX, SUBUNIT 5; ORC5", "OMIM:602332": "NON-SMC CONDENSIN I COMPLEX SUBUNIT H; NCAPH", "OMIM:602333": "EPITHELIAL MEMBRANE PROTEIN 1; EMP1", "OMIM:602334": "EPITHELIAL MEMBRANE PROTEIN 2; EMP2", "OMIM:602335": "EPITHELIAL MEMBRANE PROTEIN 3; EMP3", "OMIM:602336": "RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 1; ROR1", "OMIM:602337": "RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2", "OMIM:602338": "PRE-mRNA-PROCESSING FACTOR KINASE PRP4K; PRP4K", "OMIM:602339": "SOLUTE CARRIER FAMILY 15 (H+/PEPTIDE TRANSPORTER), MEMBER 2; SLC15A2", "OMIM:602340": "SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH", "OMIM:602341": "FORKHEAD BOX M1; FOXM1", "OMIM:602343": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1; TRPC1", "OMIM:602344": "PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE 2; PAFAH2", "OMIM:602345": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3; TRPC3", "OMIM:602346": "CONTACTIN-ASSOCIATED PROTEIN 1; CNTNAP1", "OMIM:602348": "SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 3; SNAPC3", "OMIM:602349": "NETRIN 3; NTN3", "OMIM:602350": "NEUROGRANIN; NRGN", "OMIM:602351": "CHEMERIN CHEMOKINE-LIKE RECEPTOR 1; CMKLR1", "OMIM:602352": "GONADOTROPIN-RELEASING HORMONE 2; GNRH2", "OMIM:602353": "TRANSFORMING GROWTH FACTOR, BETA-1-INDUCED 1; TGFB1I1", "OMIM:602354": "LINKER FOR ACTIVATION OF T CELLS; LAT", "OMIM:602355": "TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6", "OMIM:602356": "TNF RECEPTOR-ASSOCIATED FACTOR 5; TRAF5", "OMIM:602357": "WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 1; WIPF1", "OMIM:602358": "HYPOCRETIN; HCRT", "OMIM:602359": "FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 1; FXYD1", "OMIM:602360": "L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM", "OMIM:602362": "GTPase-ACTIVATING PROTEIN, RAN, 1; RANGAP1", "OMIM:602364": "CATHEPSIN W; CTSW", "OMIM:602365": "CATHEPSIN C; CTSC", "OMIM:602366": "INTEGRIN-LINKED KINASE; ILK", "OMIM:602367": "NEURONAL PENTRAXIN 1; NPTX1", "OMIM:602368": "GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 2; GRID2", "OMIM:602369": "CELLULAR COMMUNICATION NETWORK FACTOR 1; CCN1", "OMIM:602370": "GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED MOLECULE-LIKE PROTEIN; GML", "OMIM:602371": "ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 3; ACSL3", "OMIM:602372": "ZONADHESIN; ZAN", "OMIM:602373": "CALPONIN 2; CNN2", "OMIM:602374": "CALPONIN 3; CNN3", "OMIM:602375": "MITOCHONDRIAL RIBOSOMAL PROTEIN L12; MRPL12", "OMIM:602376": "INTERFERON-ALPHA, -BETA, AND -OMEGA RECEPTOR 2; IFNAR2", "OMIM:602377": "DYNAMIN 1; DNM1", "OMIM:602378": "DYNAMIN 2; DNM2", "OMIM:602380": "UROPLAKIN 1B; UPK1B", "OMIM:602381": "NGFIA-BINDING PROTEIN 2; NAB2", "OMIM:602382": "PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1", "OMIM:602383": "OSTEOGLYCIN; OGN", "OMIM:602384": "PHOSPHOLIPASE D2; PLD2", "OMIM:602385": "SULFOTRANSFERASE FAMILY 1C, MEMBER 2; SULT1C2", "OMIM:602386": "ZINC FINGER PROTEIN 212; ZNF212", "OMIM:602387": "RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 2; RBMS2", "OMIM:602388": "SYMPLEKIN; SYMPK", "OMIM:602389": "Tu TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TUFM", "OMIM:602391": "PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE; PEMT", "OMIM:602392": "HYPOCRETIN RECEPTOR 1; HCRTR1", "OMIM:602393": "HYPOCRETIN RECEPTOR 2; HCRTR2", "OMIM:602394": "NUCLEOLAR AND COILED-BODY PHOSPHOPROTEIN 1; NOLC1", "OMIM:602395": "GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE, MITOCHONDRIAL; GPAM", "OMIM:602396": "ANNEXIN A8; ANXA8", "OMIM:602397": "ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1", "OMIM:602399": "MITOGEN-ACTIVATED PROTEIN KINASE 12; MAPK12", "OMIM:602402": "FORKHEAD BOX C2; FOXC2", "OMIM:602403": "BLEOMYCIN HYDROLASE; BLMH", "OMIM:602404": "PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "OMIM:602406": "HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 1; HAND1", "OMIM:602407": "HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2", "OMIM:602408": "NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1", "OMIM:602409": "MLLT10 HISTONE LYSINE METHYLTRANSFERASE DOT1L COFACTOR; MLLT10", "OMIM:602410": "BROMODOMAIN- AND PHD FINGER-CONTAINING PROTEIN; BRPF1", "OMIM:602411": "EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 2; EXTL2", "OMIM:602412": "RIBOSOMAL PROTEIN S24; RPS24", "OMIM:602413": "SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C; SDHC", "OMIM:602414": "AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 1; APBA1", "OMIM:602415": "DYSTROBREVIN, BETA; DTNB", "OMIM:602416": "ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-2 SUBUNIT; AP3S2", "OMIM:602419": "EARLY GROWTH RESPONSE 3; EGR3", "OMIM:602420": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 10; KCNA10", "OMIM:602421": "CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR", "OMIM:602422": "STEM-LOOP BINDING PROTEIN; SLBP", "OMIM:602423": "NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3", "OMIM:602424": "DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1", "OMIM:602425": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 4; MAP3K4", "OMIM:602426": "NUCLEAR VALOSIN-CONTAINING PROTEIN-LIKE; NVL", "OMIM:602427": "T-BOX TRANSCRIPTION FACTOR 6; TBX6", "OMIM:602428": "HYALURONAN SYNTHASE 3; HAS3", "OMIM:602429": "GLAUCOMA 1, OPEN ANGLE, D; GLC1D", "OMIM:602430": "ROUNDABOUT GUIDANCE RECEPTOR 1; ROBO1", "OMIM:602431": "ROUNDABOUT GUIDANCE RECEPTOR 2; ROBO2", "OMIM:602432": "OPTINEURIN; OPTN", "OMIM:602434": "ANCIENT UBIQUITOUS PROTEIN 1; AUP1", "OMIM:602435": "PEPTIDYL-PROLYL ISOMERASE E; PPIE", "OMIM:602436": "MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B; MICB", "OMIM:602437": "GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN; GCHFR", "OMIM:602438": "HEAT-SHOCK TRANSCRIPTION FACTOR 4; HSF4", "OMIM:602441": "CYTOKINE-INDUCIBLE SH2-CONTAINING PROTEIN; CISH", "OMIM:602442": "INTERSECTIN 1; ITSN1", "OMIM:602443": "X-PROLYL AMINOPEPTIDASE 1; XPNPEP1", "OMIM:602444": "ZINC FINGER PROTEIN 354A; ZNF354A", "OMIM:602445": "SERINE PROTEASE INHIBITOR, CLADE I, MEMBER 1; SERPINI1", "OMIM:602446": "GLYPICAN 5; GPC5", "OMIM:602447": "PARAOXONASE 2; PON2", "OMIM:602448": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5", "OMIM:602449": "A-KINASE ANCHOR PROTEIN 1; AKAP1", "OMIM:602451": "PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 6; P2RY6", "OMIM:602452": "BUB1 MITOTIC CHECKPOINT SERINE/THREONINE KINASE; BUB1", "OMIM:602453": "INTEGRIN, ALPHA-D; ITGAD", "OMIM:602454": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, U; PTPRU", "OMIM:602456": "REMOVED FROM DATABASE", "OMIM:602457": "FAS-ASSOCIATED VIA DEATH DOMAIN; FADD", "OMIM:602458": "SORTILIN; SORT1", "OMIM:602460": "POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3", "OMIM:602461": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, SUBSTRATE 1; PTPNS1", "OMIM:602462": "COLLAPSIN RESPONSE MEDIATOR PROTEIN 1; CRMP1", "OMIM:602463": "DIHYDROPYRIMIDINASE-LIKE 2; DPYSL2", "OMIM:602464": "TNF RECEPTOR-ASSOCIATED FACTOR 4; TRAF4", "OMIM:602465": "SPROUTY RTK SIGNALING ANTAGONIST 1; SPRY1", "OMIM:602466": "SPROUTY RTK SIGNALING ANTAGONIST 2; SPRY2", "OMIM:602468": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9A; PPP1R9A", "OMIM:602469": "FOLATE RECEPTOR 3; FOLR3", "OMIM:602470": "PROSTATE STEM CELL ANTIGEN; PSCA", "OMIM:602472": "CREASES, INFRA-AURICULAR CUTANEOUS, WITH TALL STATURE AND ADVANCED BONE AGE", "OMIM:602474": "PROTEIN KINASE, MEMBRANE-ASSOCIATED TYROSINE/THREONINE, 1; PKMYT1", "OMIM:602478": "tRNA ASPARTIC ACID METHYLTRANSFERASE 1; TRDMT1", "OMIM:602479": "POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1", "OMIM:602480": "POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 3; POU3F3", "OMIM:602486": "POP1 HOMOLOG, RIBONUCLEASE P/MRP SUBUNIT; POP1", "OMIM:602487": "HEAT-RESPONSIVE PROTEIN 12; HRSP12", "OMIM:602488": "CYTOHESIN 2; CYTH2", "OMIM:602489": "KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 1; KHDRBS1", "OMIM:602490": "NUCLEAR RECEPTOR-INTERACTING PROTEIN 1; NRIP1", "OMIM:602491": "HYPERLIPIDEMIA, FAMILIAL COMBINED, 1; FCHL1", "OMIM:602492": "PENTRAXIN 3; PTX3", "OMIM:602493": "UV RADIATION RESISTANCE-ASSOCIATED GENE; UVRAG", "OMIM:602494": "CHEMOKINE, CC MOTIF, LIGAND 23; CCL23", "OMIM:602495": "CHEMOKINE, CC MOTIF, LIGAND 24; CCL24", "OMIM:602496": "MERCAPTOPYRUVATE SULFURTRANSFERASE; MPST", "OMIM:602497": "CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL", "OMIM:602498": "TRAFFICKING FROM ER TO GOLGI REGULATOR; TFG", "OMIM:602500": "GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY B, 1; GOLGB1", "OMIM:602502": "GOLGIN A1; GOLGA1", "OMIM:602503": "FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS; FRAT1", "OMIM:602504": "SHORT STATURE HOMEOBOX 2; SHOX2", "OMIM:602505": "PAXILLIN; PXN", "OMIM:602507": "RING FINGER PROTEIN 103; RNF103", "OMIM:602508": "PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, BETA SUBUNIT; PAFAH1B2", "OMIM:602509": "GOLGIN A4; GOLGA4", "OMIM:602510": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, H; PTPRH", "OMIM:602511": "PSEUDOACROMEGALY WITH SEVERE INSULIN RESISTANCE", "OMIM:602512": "REGULATOR OF G PROTEIN SIGNALING 12; RGS12", "OMIM:602513": "REGULATOR OF G PROTEIN SIGNALING 14; RGS14", "OMIM:602514": "REGULATOR OF G PROTEIN SIGNALING 16; RGS16", "OMIM:602515": "PHOSPHOLIPASE D1, GLYCOSYLPHOSPHATIDYLINOSITOL-SPECIFIC; GPLD1", "OMIM:602516": "REGULATOR OF G PROTEIN SIGNALING 4; RGS4", "OMIM:602517": "REGULATOR OF G PROTEIN SIGNALING 7; RGS7", "OMIM:602518": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 4; LGALS4", "OMIM:602519": "UBIQUITIN-SPECIFIC PROTEASE 7; USP7", "OMIM:602520": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE 5; MAP2K5", "OMIM:602521": "MITOGEN-ACTIVATED PROTEIN KINASE 7; MAPK7", "OMIM:602523": "DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM", "OMIM:602524": "PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 1; PDK1", "OMIM:602525": "PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 2; PDK2", "OMIM:602527": "PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 4; PDK4", "OMIM:602528": "TUBULIN, ALPHA-3C; TUBA3C", "OMIM:602529": "TUBULIN, ALPHA-1A; TUBA1A", "OMIM:602530": "TUBULIN, ALPHA-1B; TUBA1B", "OMIM:602532": "RNF217 ANTISENSE RNA 1; RNF217AS1", "OMIM:602533": "ONCOGENE DJ1; DJ1", "OMIM:602534": "SYNAPTOSOMAL-ASSOCIATED PROTEIN, 23-KD; SNAP23", "OMIM:602536": "RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1", "OMIM:602537": "CALPAIN 5; CAPN5", "OMIM:602538": "CUGBP- AND ELAV-LIKE FAMILY, MEMBER 2; CELF2", "OMIM:602539": "MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3", "OMIM:602542": "BASIC TRANSCRIPTION FACTOR 3; BTF3", "OMIM:602543": "BASIC TRANSCRIPTION FACTOR 3 PSEUDOGENE 11; BTF3P11", "OMIM:602544": "PARKIN RBR E3 UBIQUITIN PROTEIN LIGASE; PRKN", "OMIM:602545": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, KAPPA; PTPRK", "OMIM:602546": "ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 2; ST8SIA2", "OMIM:602547": "ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 4; ST8SIA4", "OMIM:602548": "OPIOID RECEPTOR-LIKE 1; OPRL1", "OMIM:602549": "PROTEIN KINASE N2; PKN2", "OMIM:602550": "BRAIN AND MUSCLE ARNT-LIKE PROTEIN 1; BMAL1", "OMIM:602551": "JEJUNAL ATRESIA WITH RENAL ADYSPLASIA", "OMIM:602552": "NUCLEOPORIN, 88-KD; NUP88", "OMIM:602553": "ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION", "OMIM:602555": "MICROCEPHALY, MACROTIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:602556": "FACIAL DYSMORPHISM, CLEFT PALATE, HEARING LOSS, AND CAMPTODACTYLY", "OMIM:602558": "CRANIOMICROMELIC SYNDROME", "OMIM:602559": "EXPORTIN 1; XPO1", "OMIM:602560": "TRACHEAL ANTIMICROBIAL PEPTIDE", "OMIM:602561": "BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS", "OMIM:602563": "NK6 HOMEOBOX 1; NKX6-1", "OMIM:602564": "EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND INTELLECTUAL DEVELOPMENTAL DISORDER", "OMIM:602565": "CHEMOKINE, CC MOTIF, LIGAND 25; CCL25", "OMIM:602566": "PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7", "OMIM:602567": "LIM ZINC FINGER-CONTAINING PROTEIN 1; LIMS1", "OMIM:602568": "METHIONINE SYNTHASE REDUCTASE; MTRR", "OMIM:602569": "SYNUCLEIN, BETA; SNCB", "OMIM:602570": "JAGGED 2; JAG2", "OMIM:602571": "RNA-BINDING MOTIF PROTEIN 4; RBM4", "OMIM:602572": "ANNEXIN A11; ANXA11", "OMIM:602573": "ANNEXIN A13; ANXA13", "OMIM:602574": "TECTORIN, ALPHA; TECTA", "OMIM:602575": "LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B", "OMIM:602576": "LFNG O-FUCOSYLPEPTIDE 3-BETA-N-ACETYLGLUCOSAMINYLTRANSFERASE; LFNG", "OMIM:602577": "MFNG O-FUCOSYLPEPTIDE 3-BETA-N-ACETYLGLUCOSAMINYLTRANSFERASE; MFNG", "OMIM:602578": "RFNG O-FUCOSYLPEPTIDE 3-BETA-N-ACETYLGLUCOSAMINYLTRANSFERASE; RFNG", "OMIM:602580": "GOLGIN A2; GOLGA2", "OMIM:602581": "GOLGIN A3; GOLGA3", "OMIM:602582": "DELTEX E3 UBIQUITIN LIGASE 1; DTX1", "OMIM:602583": "G PROTEIN-COUPLED RECEPTOR 37; GPR37", "OMIM:602584": "RETICULOCALBIN 2; RCN2", "OMIM:602587": "ACYL-CoA THIOESTERASE 7; ACOT7", "OMIM:602589": "FUCOSYLTRANSFERASE 8; FUT8", "OMIM:602590": "p21 PROTEIN-ACTIVATED KINASE 1; PAK1", "OMIM:602591": "KINESIN FAMILY MEMBER 2A; KIF2A", "OMIM:602592": "LYMPHOCYTE ANTIGEN CD5-LIKE; CD5L", "OMIM:602593": "CORNEODESMOSIN; CDSN", "OMIM:602594": "RETINITIS PIGMENTOSA 22; RP22", "OMIM:602595": "GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 2; GEMIN2", "OMIM:602596": "PANCREATIC LYMPHOMA, FAMILIAL", "OMIM:602597": "B-CELL CLL/LYMPHOMA 9; BCL9", "OMIM:602598": "PROSTAGLANDIN D SYNTHASE, HEMATOPOIETIC; HPGDS", "OMIM:602600": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 8; LRP8", "OMIM:602601": "LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1", "OMIM:602602": "SECRETED AND TRANSMEMBRANE 1; SECTM1", "OMIM:602603": "MAGO HOMOLOG, EXON JUNCTION COMPLEX SUBUNIT; MAGOH", "OMIM:602606": "CART PREPROPEPTIDE; CARTPT", "OMIM:602607": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1; SLC22A1", "OMIM:602608": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 2; SLC22A2", "OMIM:602609": "PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 3; PIK3C3", "OMIM:602610": "PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 4; PIK3R4", "OMIM:602611": "SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:602612": "CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE", "OMIM:602613": "SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL", "OMIM:602614": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7", "OMIM:602615": "TAK1-BINDING PROTEIN 1; TAB1", "OMIM:602616": "ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT2", "OMIM:602617": "FORKHEAD BOX E1; FOXE1", "OMIM:602618": "C-TERMINAL-BINDING PROTEIN 1; CTBP1", "OMIM:602619": "C-TERMINAL-BINDING PROTEIN 2; CTBP2", "OMIM:602620": "LEGUMAIN; LGMN", "OMIM:602621": "COXSACKIEVIRUS AND ADENOVIRUS RECEPTOR; CXADR", "OMIM:602622": "DEOXYRIBONUCLEASE I-LIKE 2; DNASE1L2", "OMIM:602623": "FK506-BINDING PROTEIN 5; FKBP5", "OMIM:602625": "MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 1; MAGI1", "OMIM:602626": "INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; IL1RAP", "OMIM:602627": "CELL DIVISION CYCLE 6; CDC6", "OMIM:602628": "FORKHEAD BOX N3; FOXN3", "OMIM:602630": "TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR; TGIF", "OMIM:602631": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18; SLC22A18", "OMIM:602632": "PODOCALYXIN-LIKE; PODXL", "OMIM:602633": "FOUR-AND-A-HALF LIM DOMAINS 2; FHL2", "OMIM:602634": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 9; DNAJB9", "OMIM:602635": "DEAF1 TRANSCRIPTION FACTOR; DEAF1", "OMIM:602636": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 8; PPP1R8", "OMIM:602637": "SECRETED PHOSPHOPROTEIN 2; SPP2", "OMIM:602638": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 4; MCM4", "OMIM:602639": "TOOTH AGENESIS, SELECTIVE, 2; STHAG2", "OMIM:602640": "N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 1; NAALADL1", "OMIM:602641": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 1; EIF4A1", "OMIM:602642": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11", "OMIM:602643": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B", "OMIM:602644": "TETRASPANIN 4; TSPAN4", "OMIM:602645": "SEMAPHORIN 3C; SEMA3C", "OMIM:602646": "G PROTEIN-COUPLED RECEPTOR 35; GPR35", "OMIM:602647": "NUCLEAR RNA EXPORT FACTOR 1; NXF1", "OMIM:602648": "ATYPICAL CHEMOKINE RECEPTOR 2; ACKR2", "OMIM:602649": "COLD-INDUCIBLE RNA-BINDING PROTEIN; CIRBP", "OMIM:602650": "SPECKLE-TYPE BTB/POZ PROTEIN; SPOP", "OMIM:602651": "NARDILYSIN; NRD1", "OMIM:602652": "KALLIKREIN-RELATED PEPTIDASE 6; KLK6", "OMIM:602653": "TECTORIN, BETA; TECTB", "OMIM:602654": "FERM, ARHGEF, AND PLECKSTRIN DOMAINS-CONTAINING PROTEIN 1; FARP1", "OMIM:602655": "SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN; SLC4A1AP", "OMIM:602656": "ENDONUCLEASE III-LIKE 1; NTHL1", "OMIM:602658": "PHOSPHODIESTERASE 2A; PDE2A", "OMIM:602659": "MENAGE A TROIS 1; MNAT1", "OMIM:602660": "TUBULIN, BETA-4B; TUBB4B", "OMIM:602661": "TUBULIN, BETA-3; TUBB3", "OMIM:602662": "TUBULIN, BETA-4A; TUBB4A", "OMIM:602663": "PROLACTIN-RELEASING HORMONE; PRLH", "OMIM:602664": "CASPASE 4, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP4", "OMIM:602665": "CASPASE 5, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP5", "OMIM:602666": "MYOSIN XVA; MYO15A", "OMIM:602667": "NIBRIN; NBN", "OMIM:602669": "PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3", "OMIM:602670": "POLYMERASE, DNA, EPSILON-2; POLE2", "OMIM:602671": "SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4; SLC37A4", "OMIM:602672": "RAS-ASSOCIATED PROTEIN RAB13; RAB13", "OMIM:602673": "KALLIKREIN-RELATED PEPTIDASE 10; KLK10", "OMIM:602675": "ARGINYL AMINOPEPTIDASE; RNPEP", "OMIM:602676": "PHOSPHODIESTERASE 6D; PDE6D", "OMIM:602677": "RING FINGER PROTEIN 5; RNF5", "OMIM:602678": "MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3", "OMIM:602679": "PHOSPHATE CYTIDYLYLTRANSFERASE 2, ETHANOLAMINE; PCYT2", "OMIM:602680": "RHO GTPase-ACTIVATING PROTEIN 5; ARHGAP5", "OMIM:602681": "FORKHEAD BOX O3A; FOXO3A", "OMIM:602682": "ADHESION G PROTEIN-COUPLED RECEPTOR B1; ADGRB1", "OMIM:602683": "ADHESION G PROTEIN-COUPLED RECEPTOR B2; ADGRB2", "OMIM:602684": "ADHESION G PROTEIN-COUPLED RECEPTOR B3; ADGRB3", "OMIM:602685": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPASTICITY AND PIGMENTARY TAPETORETINAL DEGENERATION", "OMIM:602686": "MITOTIC ARREST DEFICIENT 1 LIKE 1; MAD1L1", "OMIM:602688": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A/B; HNRNPAB", "OMIM:602689": "FASCIN ACTIN-BUNDLING PROTEIN 1; FSCN1", "OMIM:602690": "SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D; SDHD", "OMIM:602691": "NUCLEAR RECEPTOR COACTIVATOR 1; NCOA1", "OMIM:602692": "GLIOMA PATHOGENESIS-RELATED PROTEIN 1; GLIPR1", "OMIM:602693": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 3; MCM3", "OMIM:602694": "NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4; NDUFS4", "OMIM:602695": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12", "OMIM:602696": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 5; MCM5", "OMIM:602697": "PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 11; P2RY11", "OMIM:602698": "NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 3; NFATC3", "OMIM:602699": "NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 4; NFATC4", "OMIM:602700": "E1A-BINDING PROTEIN, 300-KD; EP300", "OMIM:602701": "SARCOLEMMAL-ASSOCIATED PROTEIN; SLMAP", "OMIM:602702": "PERILIPIN 3; PLIN3", "OMIM:602703": "KATANIN, p80 SUBUNIT, B1; KATNB1", "OMIM:602704": "MDM4 REGULATOR OF p53; MDM4", "OMIM:602705": "SYNAPSIN III; SYN3", "OMIM:602706": "PROTEASOME 26S SUBUNIT, ATPase, 1; PSMC1", "OMIM:602707": "PROTEASOME 26S SUBUNIT, ATPase, 4; PSMC4", "OMIM:602708": "PROTEASOME 26S SUBUNIT, ATPase, 6; PSMC6", "OMIM:602709": "AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 1; APBB1", "OMIM:602710": "AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 2; APBB2", "OMIM:602711": "AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 3; APBB3", "OMIM:602712": "AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 2; APBA2", "OMIM:602713": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9", "OMIM:602714": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 12; ADAM12", "OMIM:602715": "LEIOMODIN 1; LMOD1", "OMIM:602716": "NEPHRIN; NPHS1", "OMIM:602717": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2D; GRIN2D", "OMIM:602718": "TRANSFORMER 2 ALPHA HOMOLOG; TRA2A", "OMIM:602719": "TRANSFORMER 2 BETA HOMOLOG; TRA2B", "OMIM:602720": "PARAOXONASE 3; PON3", "OMIM:602721": "DNA MEIOTIC RECOMBINASE 1; DMC1", "OMIM:602724": "SEPTIN 5; SEPT5", "OMIM:602725": "INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2", "OMIM:602726": "CHLORIDE CHANNEL 6; CLCN6", "OMIM:602727": "CHLORIDE CHANNEL 7; CLCN7", "OMIM:602728": "SCAVENGER RECEPTOR CLASS A, MEMBER 3; SCARA3", "OMIM:602729": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, PI; GABRP", "OMIM:602730": "ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B", "OMIM:602731": "FYN-BINDING PROTEIN 1; FYB1", "OMIM:602732": "RHO GTPase-ACTIVATING PROTEIN 1; ARHGAP1", "OMIM:602733": "ALDEHYDE DEHYDROGENASE, FAMILY 9, SUBFAMILY A, MEMBER 1; ALDH9A1", "OMIM:602734": "PLASTIN 1; PLS1", "OMIM:602735": "RETICULOCALBIN 1; RCN1", "OMIM:602736": "ATP SYNTHASE MEMBRANE SUBUNIT C, LOCUS 3; ATP5MC3", "OMIM:602737": "CHEMOKINE, CC MOTIF, LIGAND 21; CCL21", "OMIM:602738": "KARYOPHERIN BETA-1; KPNB1", "OMIM:602739": "PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1", "OMIM:602740": "PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1", "OMIM:602741": "PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-2; PRKAB2", "OMIM:602742": "PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1", "OMIM:602743": "PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2", "OMIM:602744": "GLYCERONEPHOSPHATE O-ACYLTRANSFERASE; GNPAT", "OMIM:602745": "PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, BETA; PIP5K1B", "OMIM:602746": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14", "OMIM:602747": "DUAL-SPECIFICITY PHOSPHATASE 4; DUSP4", "OMIM:602748": "DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6", "OMIM:602749": "DUAL-SPECIFICITY PHOSPHATASE 7; DUSP7", "OMIM:602750": "D-DOPACHROME TAUTOMERASE; DDT", "OMIM:602751": "BTB AND CNC HOMOLOGY 1; BACH1", "OMIM:602752": "RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 8; RGPD8", "OMIM:602753": "PAIRED-LIKE HOMEOBOX 2A; PHOX2A", "OMIM:602754": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 4; KCNN4", "OMIM:602755": "CYCLIN B2; CCNB2", "OMIM:602756": "EPHRIN A2; EFNA2", "OMIM:602757": "EPHRIN RECEPTOR EphB6; EPHB6", "OMIM:602758": "PHOSPHATIDYLINOSITOL 4-KINASE, BETA; PI4KB", "OMIM:602759": "PROSTATE CANCER, HEREDITARY, 8; HPC8", "OMIM:602760": "KERATIN 32, TYPE I; KRT32", "OMIM:602761": "KERATIN 33A, TYPE I; KRT33A", "OMIM:602762": "KERATIN 33B, TYPE I; KRT33B", "OMIM:602763": "KERATIN 34, TYPE I; KRT34", "OMIM:602764": "KERATIN 35, TYPE I; KRT35", "OMIM:602765": "KERATIN 83, TYPE II; KRT83", "OMIM:602766": "KERATIN 84, TYPE II; KRT84", "OMIM:602767": "KERATIN 85, TYPE II; KRT85", "OMIM:602768": "DELTA-LIKE CANONICAL NOTCH LIGAND 3; DLL3", "OMIM:602769": "DNA METHYLTRANSFERASE 3A; DNMT3A", "OMIM:602770": "CHROMOBOX 2; CBX2", "OMIM:602773": "SOLUTE CARRIER FAMILY 49, MEMBER 4; SLC49A4", "OMIM:602774": "RAD51 PARALOG C; RAD51C", "OMIM:602775": "SHOC2 LEUCINE-RICH REPEAT SCAFFOLD PROTEIN; SHOC2", "OMIM:602776": "REV3-LIKE, DNA-DIRECTED POLYMERASE ZETA CATALYTIC SUBUNIT; REV3L", "OMIM:602777": "SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 4; SNAPC4", "OMIM:602778": "NUCLEAR RECEPTOR SUBFAMILY 6, GROUP A, MEMBER 1; NR6A1", "OMIM:602779": "COAGULATION FACTOR II RECEPTOR-LIKE 3; F2RL3", "OMIM:602780": "HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 1; HCN1", "OMIM:602781": "HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 2; HCN2", "OMIM:602783": "SPG7 MATRIX AAA PEPTIDASE SUBUNIT, PARAPLEGIN; SPG7", "OMIM:602784": "CORTISTATIN; CORT", "OMIM:602785": "H1 HISTONE FAMILY, MEMBER X; H1FX", "OMIM:602786": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER E; HIST1H2AE", "OMIM:602787": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER I; HIST1H2AI", "OMIM:602788": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER K; HIST1H2AK", "OMIM:602790": "FOUR-AND-A-HALF LIM DOMAINS 3; FHL3", "OMIM:602791": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER J; HIST1H2AJ", "OMIM:602792": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER D; HIST1H2AD", "OMIM:602793": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER L; HIST1H2AL", "OMIM:602794": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER C; HIST1H2AC", "OMIM:602795": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER B; HIST1H2AB", "OMIM:602796": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER M; HIST1H2AM", "OMIM:602797": "HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER C; HIST2H2AC", "OMIM:602798": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER G; HIST1H2BG", "OMIM:602799": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER D; HIST1H2BD", "OMIM:602800": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER L; HIST1H2BL", "OMIM:602801": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER N; HIST1H2BN", "OMIM:602802": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER M; HIST1H2BM", "OMIM:602803": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER B; HIST1H2BB", "OMIM:602804": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER F; HIST1H2BF", "OMIM:602805": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER E; HIST1H2BE", "OMIM:602806": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER H; HIST1H2BH", "OMIM:602807": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER I; HIST1H2BI", "OMIM:602808": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER O; HIST1H2BO", "OMIM:602809": "KINESIN FAMILY MEMBER 5B; KIF5B", "OMIM:602810": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER A; HIST1H3A", "OMIM:602811": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER D; HIST1H3D", "OMIM:602812": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER C; HIST1H3C", "OMIM:602813": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER E; HIST1H3E", "OMIM:602814": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER I; HIST1H3I", "OMIM:602815": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER G; HIST1H3G", "OMIM:602816": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER F; HIST1H3F", "OMIM:602817": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER J; HIST1H3J", "OMIM:602818": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER H; HIST1H3H", "OMIM:602819": "HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER B; HIST1H3B", "OMIM:602820": "HISTONE GENE CLUSTER 3, H3 HISTONE; HIST3H3", "OMIM:602821": "KINESIN FAMILY MEMBER 5A; KIF5A", "OMIM:602822": "H4 CLUSTERED HISTONE 1; H4C1", "OMIM:602823": "H4 CLUSTERED HISTONE 4; H4C4", "OMIM:602824": "H4 CLUSTERED HISTONE 6; H4C6", "OMIM:602825": "H4 CLUSTERED HISTONE 12; H4C12", "OMIM:602826": "H4 CLUSTERED HISTONE 11; H4C11", "OMIM:602827": "H4 CLUSTERED HISTONE 3; H4C3", "OMIM:602828": "H4 CLUSTERED HISTONE 8; H4C8", "OMIM:602829": "H4 CLUSTERED HISTONE 2; H4C2", "OMIM:602830": "H4 CLUSTERED HISTONE 5; H4C5", "OMIM:602831": "H4 CLUSTERED HISTONE 13; H4C13", "OMIM:602832": "H4 CLUSTERED HISTONE 7; H4C7", "OMIM:602833": "H4 CLUSTERED HISTONE 9; H4C9", "OMIM:602835": "GROWTH ARREST-SPECIFIC 2; GAS2", "OMIM:602836": "PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 5; P2RX5", "OMIM:602837": "DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 1; DNAJA1", "OMIM:602838": "PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, BETA; PIK3C2B", "OMIM:602839": "PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, DELTA; PIK3CD", "OMIM:602840": "CD70 ANTIGEN; CD70", "OMIM:602841": "ALDEHYDE OXIDASE 1; AOX1", "OMIM:602842": "GEMININ DNA REPLICATION INHIBITOR; GMNN", "OMIM:602843": "RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB", "OMIM:602844": "RHO GDP-DISSOCIATION INHIBITOR GAMMA; ARHGDIG", "OMIM:602845": "KINESIN FAMILY MEMBER 3C; KIF3C", "OMIM:602846": "UBIQUITIN-CONJUGATING ENZYME E2 K; UBE2K", "OMIM:602847": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER C; HIST1H2BC", "OMIM:602848": "BROMODOMAIN-CONTAINING PROTEIN 8; BRD8", "OMIM:602850": "RING FINGER PROTEIN 4; RNF4", "OMIM:602851": "ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1", "OMIM:602852": "NUDIX HYDROLASE 2; NUDT2", "OMIM:602853": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, R; PTPRR", "OMIM:602854": "PROTEASOME SUBUNIT, ALPHA-TYPE, 1; PSMA1", "OMIM:602855": "PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6", "OMIM:602856": "REGULATOR OF G PROTEIN SIGNALING 10; RGS10", "OMIM:602857": "CHIMERIN 2; CHN2", "OMIM:602858": "7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7", "OMIM:602859": "PEROXISOME BIOGENESIS FACTOR 10; PEX10", "OMIM:602860": "BUB1 MITOTIC CHECKPOINT SERINE/THREONINE KINASE B; BUB1B", "OMIM:602861": "PLAKOPHILIN 2; PKP2", "OMIM:602862": "UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1", "OMIM:602863": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9A; WNT9A", "OMIM:602864": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9B; WNT9B", "OMIM:602865": "BONE MORPHOGENETIC PROTEIN/RETINOIC ACID-INDUCIBLE NEURAL-SPECIFIC PROTEIN 1; BRINP1", "OMIM:602866": "ACID-SENSING ION CHANNEL, SUBUNIT 1; ASIC1", "OMIM:602867": "INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 7; IGFBP7", "OMIM:602868": "CELL DIVISION CYCLE 5-LIKE; CDC5L", "OMIM:602869": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; HNRNPU", "OMIM:602870": "INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 1; IMPG1", "OMIM:602871": "PERIPLAKIN; PPL", "OMIM:602872": "CHLORIDE INTRACELLULAR CHANNEL 1; CLIC1", "OMIM:602873": "NEBULIN-RELATED ANCHORING PROTEIN; NRAP", "OMIM:602874": "UDP-GLUCOSE CERAMIDE GLUCOSYLTRANSFERASE; UGCG", "OMIM:602876": "OCCLUDIN; OCLN", "OMIM:602877": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 7; PPP1R7", "OMIM:602878": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3", "OMIM:602879": "ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 1; EPB41L1", "OMIM:602880": "GROWTH/DIFFERENTIATION FACTOR 1; GDF1", "OMIM:602881": "PHD FINGER PROTEIN 1; PHF1", "OMIM:602882": "LEUKOCYTE CELL-DERIVED CHEMOTAXIN 2; LECT2", "OMIM:602883": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1A2; SLCO1A2", "OMIM:602884": "GDP-MANNOSE 4,6-DEHYDRATASE; GMDS", "OMIM:602885": "MOTILIN RECEPTOR; MLNR", "OMIM:602886": "G PROTEIN-COUPLED RECEPTOR 39; GPR39", "OMIM:602887": "DISCS LARGE MAGUK SCAFFOLD PROTEIN 4; DLG4", "OMIM:602888": "BETAINE-HOMOCYSTEINE METHYLTRANSFERASE; BHMT", "OMIM:602890": "KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; KLRB1", "OMIM:602891": "KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 2; KLRC2", "OMIM:602892": "KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 3; KLRC3", "OMIM:602893": "KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4", "OMIM:602894": "KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY D, MEMBER 1; KLRD1", "OMIM:602895": "SCAFFOLD ATTACHMENT FACTOR B; SAFB", "OMIM:602896": "MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9", "OMIM:602897": "MITOGEN-ACTIVATED PROTEIN KINASE 10; MAPK10", "OMIM:602898": "MITOGEN-ACTIVATED PROTEIN KINASE 11; MAPK11", "OMIM:602899": "MITOGEN-ACTIVATED PROTEIN KINASE 13; MAPK13", "OMIM:602900": "DNA METHYLTRANSFERASE 3B; DNMT3B", "OMIM:602901": "TRANSPORTIN 1; TNPO1", "OMIM:602902": "KRUPPEL-LIKE FACTOR 9; KLF9", "OMIM:602903": "KRUPPEL-LIKE FACTOR 5; KLF5", "OMIM:602904": "MITOGEN-ACTIVATED PROTEIN KINASE 6; MAPK6", "OMIM:602905": "POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 1; KCNS1", "OMIM:602906": "POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 2; KCNS2", "OMIM:602907": "CENTRIN 3; CETN3", "OMIM:602908": "RETINOBLASTOMA-BINDING PROTEIN 9; RBBP9", "OMIM:602909": "CLAUDIN 4; CLDN4", "OMIM:602910": "CLAUDIN 3; CLDN3", "OMIM:602911": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2", "OMIM:602912": "EUKARYOTIC TRANSLATION INITIATION FACTOR 6; EIF6", "OMIM:602913": "POLO-LIKE KINASE 3; PLK3", "OMIM:602914": "AQUAPORIN 9; AQP9", "OMIM:602915": "GUIDED ENTRY OF TAIL-ANCHORED PROTEINS FACTOR 1; GET1", "OMIM:602916": "UBIQUITIN-CONJUGATING ENZYME E2 E1; UBE2E1", "OMIM:602917": "REGULATOR OF CALCINEURIN 1; RCAN1", "OMIM:602918": "PHENYLALANINE-tRNA SYNTHETASE, ALPHA SUBUNIT; FARSA", "OMIM:602919": "DOCKING PROTEIN 1; DOK1", "OMIM:602920": "LIM AND SH3 PROTEIN 1; LASP1", "OMIM:602921": "PERSEPHIN; PSPN", "OMIM:602923": "RETINOBLASTOMA-BINDING PROTEIN 4; RBBP4", "OMIM:602924": "RHO FAMILY GTPase 3; RND3", "OMIM:602925": "PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB", "OMIM:602926": "SYNTAXIN-BINDING PROTEIN 1; STXBP1", "OMIM:602927": "G PROTEIN-COUPLED RECEPTOR 19; GPR19", "OMIM:602928": "TROPOMODULIN 2; TMOD2", "OMIM:602929": "VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 5A; VWA5A", "OMIM:602930": "REX4 HOMOLOG, 3-PRIME,5-PRIME-EXONUCLEASE; REXO4", "OMIM:602931": "SMAD FAMILY MEMBER 6; SMAD6", "OMIM:602932": "SMAD FAMILY MEMBER 7; SMAD7", "OMIM:602933": "THYROID HORMONE RECEPTOR INTERACTOR 6; TRIP6", "OMIM:602934": "STROMAL CELL-DERIVED FACTOR 2; SDF2", "OMIM:602935": "FATTY ACID AMIDE HYDROLASE; FAAH", "OMIM:602937": "CBP/p300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH C-TERMINAL DOMAIN, 2; CITED2", "OMIM:602938": "BILE ACID CoA:AMINO ACID N-ACYLTRANSFERASE; BAAT", "OMIM:602939": "FORKHEAD BOX S1; FOXS1", "OMIM:602940": "MARCKS-LIKE PROTEIN 1; MARCKSL1", "OMIM:602941": "BCAR1 SCAFFOLD PROTEIN, CAS FAMILY MEMBER; BCAR1", "OMIM:602942": "ECOTROPIC VIRAL INTEGRATION SITE 5; EVI5", "OMIM:602943": "RAR-RELATED ORPHAN RECEPTOR C; RORC", "OMIM:602944": "E2F TRANSCRIPTION FACTOR 6; E2F6", "OMIM:602945": "TRANSCRIPTIONAL ADAPTOR 3; TADA3", "OMIM:602946": "TAF6-LIKE RNA POLYMERASE II; TAF6L", "OMIM:602947": "SPT3 HOMOLOG, SAGA AND STAGA COMPLEX COMPONENT; SUPT3H", "OMIM:602948": "RAD51 PARALOG B; RAD51B", "OMIM:602949": "SIN3-ASSOCIATED POLYPEPTIDE, 18-KD; SAP18", "OMIM:602950": "PROTEIN ARGININE METHYLTRANSFERASE 1; PRMT1", "OMIM:602951": "ZFP37 ZINC FINGER PROTEIN; ZFP37", "OMIM:602952": "NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 2; NSD2", "OMIM:602953": "HES-RELATED FAMILY bHLH TRANSCRIPTION FACTOR WITH YRPW MOTIF 1; HEY1", "OMIM:602954": "RAD51 PARALOG D; RAD51D", "OMIM:602955": "TAF6 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 80-KD; TAF6", "OMIM:602956": "FANCG GENE; FANCG", "OMIM:602957": "CHEMOKINE, CC MOTIF, LIGAND 22; CCL22", "OMIM:602958": "SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1", "OMIM:602959": "EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-2; EEF1A2", "OMIM:602961": "UBIQUITIN-CONJUGATING ENZYME E2 D1; UBE2D1", "OMIM:602962": "UBIQUITIN-CONJUGATING ENZYME E2 D2; UBE2D2", "OMIM:602963": "UBIQUITIN-CONJUGATING ENZYME E2 D3; UBE2D3", "OMIM:602964": "TRANSLIN-ASSOCIATED FACTOR X; TSNAX", "OMIM:602965": "FATTY ACID-BINDING PROTEIN 7; FABP7", "OMIM:602966": "OROFACIAL CLEFT 2; OFC2", "OMIM:602967": "ZINC FINGER PROTEIN 217; ZNF217", "OMIM:602968": "BRAIN-ENRICHED MYELIN-ASSOCIATED PROTEIN 1; BCAS1", "OMIM:602969": "ESTROGEN-RELATED RECEPTOR, GAMMA; ESRRG", "OMIM:602970": "KARYOPHERIN ALPHA-4; KPNA4", "OMIM:602971": "TUBULIN-SPECIFIC CHAPERONE C; TBCC", "OMIM:602972": "PHOSPHODIESTERASE 8A; PDE8A", "OMIM:602973": "PHOSPHODIESTERASE 9A; PDE9A", "OMIM:602974": "AQUAPORIN 7; AQP7", "OMIM:602976": "MAX-LIKE PROTEIN X; MLX", "OMIM:602977": "GLYCOPROTEIN 2, ZYMOGEN GRANULE MEMBRANE; GP2", "OMIM:602978": "POLYHOMEOTIC HOMOLOG 1; PHC1", "OMIM:602979": "POLYHOMEOTIC HOMOLOG 2; PHC2", "OMIM:602980": "SRSF PROTEIN KINASE 2; SRPK2", "OMIM:602981": "AE-BINDING PROTEIN 1; AEBP1", "OMIM:602982": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 1; KCNN1", "OMIM:602983": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 3; KCNN3", "OMIM:602984": "MEDIATOR COMPLEX SUBUNIT 6; MED6", "OMIM:602985": "NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2", "OMIM:602986": "DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 2; DRG2", "OMIM:602987": "PHOSPHODIESTERASE 1C; PDE1C", "OMIM:602988": "PROTOCADHERIN 7; PCDH7", "OMIM:602989": "CDC-LIKE KINASE 2; CLK2", "OMIM:602990": "CDC-LIKE KINASE 3; CLK3", "OMIM:602991": "NOGGIN; NOG", "OMIM:602992": "LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 1; LAIR1", "OMIM:602993": "LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 2; LAIR2", "OMIM:602994": "LEUKOREGULIN", "OMIM:602995": "UBIQUITIN-CONJUGATING ENZYME E2 V1; UBE2V1", "OMIM:602996": "IMMEDIATE-EARLY RESPONSE 3; IER3", "OMIM:602997": "CUBILIN; CUBN", "OMIM:602998": "SYNUCLEIN, GAMMA; SNCG", "OMIM:602999": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3C; PPP1R3C", "OMIM:603000": "MITOCHONDRIAL RIBOSOMAL PROTEIN L58; MRPL58", "OMIM:603001": "UBIQUITIN-CONJUGATING ENZYME E2 V2; UBE2V2", "OMIM:603002": "TRANSPORTIN 2; TNPO2", "OMIM:603003": "BILE DUCT CYSTS", "OMIM:603004": "NIPSNAP HOMOLOG 2; NIPSNAP2", "OMIM:603005": "3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2", "OMIM:603006": "CADHERIN 4; CDH4", "OMIM:603007": "CADHERIN 6; CDH6", "OMIM:603008": "CADHERIN 8; CDH8", "OMIM:603009": "DYSFERLIN; DYSF", "OMIM:603011": "SMALL EDRK-RICH FACTOR 1A; SERF1A", "OMIM:603012": "HEAT-SHOCK 70-KD PROTEIN 1B; HSPA1B", "OMIM:603013": "SCHIZOPHRENIA 6; SCZD6", "OMIM:603014": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE 7; MAP2K7", "OMIM:603015": "TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN; TRRAP", "OMIM:603016": "CADHERIN 19; CDH19", "OMIM:603017": "CADHERIN 17; CDH17", "OMIM:603018": "BETA-3-GALACTOSYLTRANSFERASE 2; B3GALT2", "OMIM:603019": "CADHERIN 18; CDH18", "OMIM:603020": "AFG3-LIKE MATRIX AAA PEPTIDASE, SUBUNIT 1, PSEUDOGENE; AFG3L1P", "OMIM:603021": "MITOCHONDRIAL RIBOSOMAL PROTEIN S12; MRPS12", "OMIM:603022": "E4F TRANSCRIPTION FACTOR 1; E4F1", "OMIM:603023": "IKAROS FAMILY ZINC FINGER 1; IKZF1", "OMIM:603024": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A; ARID1A", "OMIM:603025": "PHOSPHATIDYLINOSITOL-BINDING CLATHRIN ASSEMBLY PROTEIN; PICALM", "OMIM:603026": "PLAG1 ZINC FINGER PROTEIN; PLAG1", "OMIM:603027": "FRUCTOSE-1,6-BISPHOSPHATASE 2; FBP2", "OMIM:603028": "TOLL-LIKE RECEPTOR 2; TLR2", "OMIM:603029": "TOLL-LIKE RECEPTOR 3; TLR3", "OMIM:603030": "TOLL-LIKE RECEPTOR 4; TLR4", "OMIM:603031": "TOLL-LIKE RECEPTOR 5; TLR5", "OMIM:603032": "STANNIN; SNN", "OMIM:603033": "COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; COLQ", "OMIM:603035": "INTERLEUKIN 16; IL16", "OMIM:603037": "LEFT-RIGHT DETERMINATION FACTOR 1; LEFTY1", "OMIM:603038": "SPERM-ASSOCIATED ANTIGEN 4; SPAG4", "OMIM:603039": "MAX NETWORK TRANSCRIPTIONAL REPRESSOR; MNT", "OMIM:603040": "TUMOR SUPPRESSOR GENE ON CHROMOSOME 11", "OMIM:603042": "SMALL UBIQUITIN-LIKE MODIFIER 2; SUMO2", "OMIM:603043": "NEUTRAL SPHINGOMYELINASE ACTIVATION-ASSOCIATED FACTOR; NSMAF", "OMIM:603044": "PLAG1-LIKE ZINC FINGER 1; PLAGL1", "OMIM:603046": "RING FINGER PROTEIN 139; RNF139", "OMIM:603047": "ASTIGMATISM", "OMIM:603048": "GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR ATTACHMENT PROTEIN 1; GPAA1", "OMIM:603049": "THIOREDOXIN-LIKE 1; TXNL1", "OMIM:603050": "ABL INTERACTOR 1; ABI1", "OMIM:603051": "ALKYLGLYCERONE-PHOSPHATE SYNTHASE; AGPS", "OMIM:603052": "CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 4; CPSF4", "OMIM:603053": "HISTONE ACETYLTRANSFERASE 1; HAT1", "OMIM:603054": "GREMLIN 1, DAN FAMILY BMP ANTAGONIST; GREM1", "OMIM:603055": "SKI-INTERACTING PROTEIN; SKIIP", "OMIM:603056": "ORIGIN RECOGNITION COMPLEX, SUBUNIT 4; ORC4", "OMIM:603057": "DACHSOUS CADHERIN-RELATED 1; DCHS1", "OMIM:603058": "PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 4; PCDHGB4", "OMIM:603059": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 12; PCDHGA12", "OMIM:603060": "KINESIN FAMILY MEMBER 1C; KIF1C", "OMIM:603061": "ENDOSULFINE, ALPHA; ENSA", "OMIM:603062": "TRANS-GOLGI NETWORK PROTEIN 2; TGOLN2", "OMIM:603063": "3-HYDROXYBUTYRATE DEHYDROGENASE 1; BDH1", "OMIM:603064": "URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B11; UGT2B11", "OMIM:603065": "NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 2; NR1I2", "OMIM:603066": "PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 3; PLOD3", "OMIM:603068": "DUAL-SPECIFICITY PHOSPHATASE 2; DUSP2", "OMIM:603069": "DUAL-SPECIFICITY PHOSPHATASE 5; DUSP5", "OMIM:603070": "RAD51-ASSOCIATED PROTEIN 1; RAD51AP1", "OMIM:603071": "G PROTEIN-COUPLED RECEPTOR 17; GPR17", "OMIM:603072": "AURORA KINASE A; AURKA", "OMIM:603073": "ZIC FAMILY, MEMBER 2; ZIC2", "OMIM:603074": "PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, GAMMA SUBUNIT; PAFAH1B3", "OMIM:603076": "ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 1; ABCG1", "OMIM:603078": "CHECKPOINT KINASE 1; CHEK1", "OMIM:603079": "CHROMOBOX 4; CBX4", "OMIM:603080": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, BETAINE/GABA), MEMBER 12; SLC6A12", "OMIM:603081": "ADP-RIBOSYLARGININE HYDROLASE; ADPRH", "OMIM:603083": "HETEROGENEOUS NUCLEAR RIBOPROTEIN L; HNRNPL", "OMIM:603084": "ASPARTYL-tRNA SYNTHETASE 1; DARS1", "OMIM:603085": "SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 1; SLC31A1", "OMIM:603086": "ADP-RIBOSYLTRANSFERASE 3; ART3", "OMIM:603088": "SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 2; SLC31A2", "OMIM:603089": "BRCA1-ASSOCIATED PROTEIN 1; BAP1", "OMIM:603090": "UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3", "OMIM:603091": "UBIQUITIN-SPECIFIC PROTEASE 12; USP12", "OMIM:603092": "DUAL-SPECIFICITY PHOSPHATASE 11; DUSP11", "OMIM:603093": "BETA-3-GALACTOSYLTRANSFERASE 1; B3GALT1", "OMIM:603094": "BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B3GALNT1", "OMIM:603095": "UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 4; B3GALT4", "OMIM:603097": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 1; ATP6V1C1", "OMIM:603099": "1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 1; AGPAT1", "OMIM:603100": "1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2", "OMIM:603101": "CARBOXYPEPTIDASE B2, PLASMA; CPB2", "OMIM:603102": "CARBOXYPEPTIDASE D; CPD", "OMIM:603103": "CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1", "OMIM:603104": "CARBOXYPEPTIDASE N, POLYPEPTIDE 2, 83-KD; CPN2", "OMIM:603105": "CARBOXYPEPTIDASE Z; CPZ", "OMIM:603106": "NEURONATIN; NNAT", "OMIM:603107": "TRANSCRIPTION FACTOR 20; TCF20", "OMIM:603108": "MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 1; MAPRE1", "OMIM:603109": "SMAD FAMILY MEMBER 3; SMAD3", "OMIM:603110": "SMAD FAMILY MEMBER 5; SMAD5", "OMIM:603111": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY E, MEMBER 1; SMARCE1", "OMIM:603112": "S100 CALCIUM-BINDING PROTEIN A12; S100A12", "OMIM:603113": "PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B", "OMIM:603114": "S100 CALCIUM-BINDING PROTEIN A11; S100A11", "OMIM:603115": "DExH-BOX HELICASE 9; DHX9", "OMIM:603117": "SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY, AND XY SEX REVERSAL", "OMIM:603118": "CADHERIN 16; CDH16", "OMIM:603119": "APRAXIA OF EYELID OPENING", "OMIM:603120": "QUIESCIN Q6 SULFHYDRYL OXIDASE 1; QSOX1", "OMIM:603122": "DEDICATOR OF CYTOKINESIS 2; DOCK2", "OMIM:603123": "DEDICATOR OF CYTOKINESIS 3; DOCK3", "OMIM:603124": "UBIQUITIN-CONJUGATING ENZYME E2 G2; UBE2G2", "OMIM:603125": "TYROSYLPROTEIN SULFOTRANSFERASE 1; TPST1", "OMIM:603126": "TYROSYLPROTEIN SULFOTRANSFERASE 2; TPST2", "OMIM:603127": "GROWTH ARREST-SPECIFIC 7; GAS7", "OMIM:603128": "SIM bHLH TRANSCRIPTION FACTOR 1; SIM1", "OMIM:603129": "LIM DOMAIN ONLY 4; LMO4", "OMIM:603130": "ATTRACTIN; ATRN", "OMIM:603131": "PEPTIDASE, MITOCHONDRIAL PROCESSING, BETA; PMPCB", "OMIM:603132": "ZINC FINGER PROTEIN 189; ZNF189", "OMIM:603133": "DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:603134": "CULLIN 1; CUL1", "OMIM:603135": "CULLIN 2; CUL2", "OMIM:603136": "CULLIN 3; CUL3", "OMIM:603137": "CULLIN 4A; CUL4A", "OMIM:603139": "RAD17 CHECKPOINT CLAMP LOADER COMPONENT; RAD17", "OMIM:603140": "PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, ALPHA; PIP4K2A", "OMIM:603141": "PPFIA-BINDING PROTEIN 1; PPFIBP1", "OMIM:603142": "PPFIA-BINDING PROTEIN 2; PPFIBP2", "OMIM:603143": "PTPRF-INTERACTING PROTEIN ALPHA-2; PPFIA2", "OMIM:603144": "PTPRF-INTERACTING PROTEIN ALPHA-3; PPFIA3", "OMIM:603145": "PTPRF-INTERACTING PROTEIN ALPHA-4; PPFIA4", "OMIM:603146": "PROTEASOME 26S SUBUNIT, NON-ATPase, 9; PSMD9", "OMIM:603148": "ACTIVATING TRANSCRIPTION FACTOR 3; ATF3", "OMIM:603149": "INTERLEUKIN 17A; IL17A", "OMIM:603150": "ATP SYNTHASE F1, SUBUNIT DELTA; ATP5F1D", "OMIM:603151": "SEPTIN 7; SEPTIN7", "OMIM:603152": "ATP SYNTHASE PERIPHERAL STALK, SUBUNIT F6; ATP5PF", "OMIM:603153": "RAD1 CHECKPOINT DNA EXONUCLEASE; RAD1", "OMIM:603154": "PININ; PNN", "OMIM:603155": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 14; PTPN14", "OMIM:603156": "BIPHENYL HYDROLASE-LIKE; BPHL", "OMIM:603157": "PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2", "OMIM:603158": "UBIQUITIN-SPECIFIC PROTEASE 8; USP8", "OMIM:603159": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 3; LRP3", "OMIM:603160": "ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 6; ENTPD6", "OMIM:603161": "ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 3; ENTPD3", "OMIM:603162": "ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 5; ENTPD5", "OMIM:603163": "STIMULATOR OF CHONDROGENESIS 1; SCRG1", "OMIM:603164": "PEROXISOME BIOGENESIS FACTOR 3; PEX3", "OMIM:603166": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 2; MAP4K2", "OMIM:603167": "BCL2-ASSOCIATED AGONIST OF CELL DEATH; BAD", "OMIM:603168": "UNC51-LIKE AUTOPHAGY-ACTIVATING KINASE 1; ULK1", "OMIM:603169": "CATHEPSIN Z; CTSZ", "OMIM:603170": "TEA DOMAIN FAMILY MEMBER 3; TEAD3", "OMIM:603171": "NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8; NEDD8", "OMIM:603172": "UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 3; UBA3", "OMIM:603173": "UBIQUITIN-CONJUGATING ENZYME E2 M; UBE2M", "OMIM:603174": "HYPERHOMOCYSTEINEMIA", "OMIM:603175": "SCHIZOPHRENIA 5; SCZD5", "OMIM:603176": "SCHIZOPHRENIA 7; SCZD7", "OMIM:603177": "VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8", "OMIM:603178": "ALDEHYDE DEHYDROGENASE 6 FAMILY, MEMBER A1; ALDH6A1", "OMIM:603179": "CARBONIC ANHYDRASE IX; CA9", "OMIM:603180": "EXPORTIN, tRNA; XPOT", "OMIM:603181": "INTERLEUKIN ENHANCER-BINDING FACTOR 2; ILF2", "OMIM:603182": "INTERLEUKIN ENHANCER-BINDING FACTOR 3; ILF3", "OMIM:603183": "RETICULON 2; RTN2", "OMIM:603184": "CYCLIN-DEPENDENT KINASE 8; CDK8", "OMIM:603185": "NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP", "OMIM:603186": "DEATH-ASSOCIATED PROTEIN 6; DAXX", "OMIM:603187": "CENTRIN 1; CETN1", "OMIM:603188": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8", "OMIM:603189": "SYNTAXIN 5; STX5", "OMIM:603190": "PROTEIN ARGININE METHYLTRANSFERASE 3; PRMT3", "OMIM:603191": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 410; CFAP410", "OMIM:603192": "ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT C, ISOFORM 1; ATP5G1", "OMIM:603193": "ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT C, ISOFORM 2; ATP5G2", "OMIM:603195": "G PROTEIN-COUPLED RECEPTOR 32; GPR32", "OMIM:603196": "COCHLIN; COCH", "OMIM:603197": "PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6", "OMIM:603198": "CAVEOLAE-ASSOCIATED PROTEIN 1; CAVIN1", "OMIM:603199": "PALS1-ASSOCIATED TIGHT JUNCTION PROTEIN; PATJ", "OMIM:603200": "REGULATORY FACTOR X, ANKYRIN REPEAT-CONTAINING; RFXANK", "OMIM:603201": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11; ABCB11", "OMIM:603202": "LACTASE; LCT", "OMIM:603203": "CYCLIN G2; CCNG2", "OMIM:603205": "MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 1; MORC1", "OMIM:603206": "SCHIZOPHRENIA 8; SCZD8", "OMIM:603207": "VESICLE TRANSPORT THROUGH INTERACTION WITH T-SNARES 1B; VTI1B", "OMIM:603208": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13; KCNJ13", "OMIM:603209": "CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE, PSEUDOGENE; CMAHP", "OMIM:603210": "JRK HELIX-TURN-HELIX PROTEIN; JRK", "OMIM:603211": "JRK-LIKE PROTEIN; JRKL", "OMIM:603212": "BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2", "OMIM:603213": "KINESIN FAMILY MEMBER 22; KIF22", "OMIM:603214": "ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4", "OMIM:603215": "NSF ATTACHMENT PROTEIN ALPHA; NAPA", "OMIM:603216": "NSF ATTACHMENT PROTEIN GAMMA; NAPG", "OMIM:603217": "SYNTAXIN 7; STX7", "OMIM:603219": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2", "OMIM:603220": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 3; KCNK3", "OMIM:603222": "SMALL NUCLEOLAR RNA HOST GENE 1; SNHG1", "OMIM:603223": "RNA, U22 SMALL NUCLEOLAR; RNU22", "OMIM:603224": "RNA, U25 SMALL NUCLEOLAR; RNU25", "OMIM:603225": "RNA, U26 SMALL NUCLEOLAR; RNU26", "OMIM:603226": "RNA, U27 SMALL NUCLEOLAR; RNU27", "OMIM:603227": "RNA, U28 SMALL NUCLEOLAR; RNU28", "OMIM:603228": "RNA, U29 SMALL NUCLEOLAR; RNU29", "OMIM:603229": "RNA, U30 SMALL NUCLEOLAR; RNU30", "OMIM:603230": "RNA, U31 SMALL NUCLEOLAR; RNU31", "OMIM:603231": "ZINC FINGER PROTEIN 200; ZNF200", "OMIM:603232": "OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY F, MEMBER 1; OR1F1", "OMIM:603234": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6", "OMIM:603235": "SELENOPROTEIN W; SELENOW", "OMIM:603236": "MEVALONATE PYROPHOSPHATE DECARBOXYLASE; MVD", "OMIM:603237": "ERYTHROCYTE MEMBRANE PROTEIN 4.1-LIKE 2; EPB41L2", "OMIM:603238": "RNA, U17D SMALL NUCLEOLAR; RNU17D", "OMIM:603239": "SMALL NUCLEOLAR RNA, H/ACA BOX, 73B; SNORA73B", "OMIM:603240": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18, ANTISENSE; SLC22A18AS", "OMIM:603241": "LIMBIC SYSTEM-ASSOCIATED MEMBRANE PROTEIN; LSAMP", "OMIM:603242": "C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER B; CLEC2B", "OMIM:603243": "AUTOCRINE MOTILITY FACTOR RECEPTOR; AMFR", "OMIM:603244": "HEPARAN SULFATE-GLUCOSAMINE 3-SULFOTRANSFERASE 1; HS3ST1", "OMIM:603245": "NK2 HOMEOBOX 8; NKX2-8", "OMIM:603246": "GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 1; GTF3C1", "OMIM:603247": "SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 2; SLC27A2", "OMIM:603248": "BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B", "OMIM:603249": "NIPSNAP HOMOLOG 1; NIPSNAP1", "OMIM:603250": "FORKHEAD BOX F2; FOXF2", "OMIM:603251": "CYCLIN-DEPENDENT KINASE 9; CDK9", "OMIM:603252": "FORKHEAD BOX L1; FOXL1", "OMIM:603253": "CYSTATIN 7; CST7", "OMIM:603254": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 4; SMARCA4", "OMIM:603255": "NUCLEAR TRANSCRIPTION FACTOR, X BOX-BINDING, 1; NFX1", "OMIM:603256": "LEUCINE-RICH REPEAT IN FLII-INTERACTING PROTEIN 1; LRRFIP1", "OMIM:603257": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 3; SMARCA3", "OMIM:603258": "INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE, SUBUNIT BETA; IKBKB", "OMIM:603260": "BARX HOMEOBOX 1; BARX1", "OMIM:603261": "PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, BETA; PIP4K2B", "OMIM:603262": "3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 1; PAPSS1", "OMIM:603263": "CARBONIC ANHYDRASE XII; CA12", "OMIM:603264": "RHOMBOID-LIKE 1; RHBDL1", "OMIM:603265": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 3A; ARID3A", "OMIM:603266": "TYPE 1 DIABETES MELLITUS 17; TID17", "OMIM:603267": "CALPAIN 15; CAPN15", "OMIM:603268": "N-DEACETYLASE/N-SULFOTRANSFERASE 2; NDST2", "OMIM:603269": "SPLICING FACTOR, SERINE/ARGININE-RICH, 8; SRSF8", "OMIM:603270": "ATP SYNTHASE PERIPHERAL STALK MEMBRANE, SUBUNIT B; ATP5PB", "OMIM:603271": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 21; PTPN21", "OMIM:603272": "CONNECTOR ENHANCER OF KINASE SUPPRESSOR OF RAS 1; CNKSR1", "OMIM:603273": "TUMOR PROTEIN p63; TP63", "OMIM:603275": "PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, ALPHA; PIP5K1A", "OMIM:603276": "REGULATOR OF G PROTEIN SIGNALING 5; RGS5", "OMIM:603277": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 4; CHD4", "OMIM:603279": "EXPANDED REPEAT DOMAIN, CAG/CTG, 1; ERDA1", "OMIM:603281": "2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE-LIKE; OASL", "OMIM:603282": "ZINC FINGER PROTEIN 204; ZNF204", "OMIM:603283": "TRIADIN; TRDN", "OMIM:603286": "KISS1 METASTASIS SUPPRESSOR; KISS1", "OMIM:603287": "PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO", "OMIM:603288": "KERATOCAN; KERA", "OMIM:603289": "DEATH-ASSOCIATED PROTEIN KINASE 3; DAPK3", "OMIM:603290": "SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 2; SHANK2", "OMIM:603291": "BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 1; BNIP1", "OMIM:603292": "BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2; BNIP2", "OMIM:603293": "BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3; BNIP3", "OMIM:603294": "MINICHROMOSOME MAINTENANCE 3-ASSOCIATED PROTEIN; MCM3AP", "OMIM:603295": "SMAD FAMILY MEMBER 9; SMAD9", "OMIM:603296": "LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 3; LAMTOR3", "OMIM:603297": "DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1", "OMIM:603298": "PALMITOYL-PROTEIN THIOESTERASE 2; PPT2", "OMIM:603300": "TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 2; TNFAIP2", "OMIM:603301": "KRUPPEL-LIKE FACTOR 11; KLF11", "OMIM:603302": "ADENYLATE CYCLASE 9; ADCY9", "OMIM:603303": "TANKYRASE; TNKS", "OMIM:603304": "INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 2; IRAK2", "OMIM:603305": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 1; KCNH1", "OMIM:603306": "TRANSCRIPTION FACTOR 21; TCF21", "OMIM:603307": "BEADED FILAMENT STRUCTURAL PROTEIN 1; BFSP1", "OMIM:603308": "CATHEPSIN V; CTSV", "OMIM:603309": "CYCLIN-DEPENDENT KINASE 13; CDK13", "OMIM:603310": "PHOSPHODIESTERASE 5A; PDE5A", "OMIM:603311": "CELL DIVISION CYCLE 7; CDC7", "OMIM:603312": "BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 1; BBOX1", "OMIM:603313": "ALG10 ALPHA-1,2-GLUCOSYLTRANSFERASE B; ALG10B", "OMIM:603314": "SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 5; SLC27A5", "OMIM:603315": "NEURONAL CALCIUM SENSOR 1; NCS1", "OMIM:603316": "CYTIDINE 5-PRIME-MONOPHOSPHATE N-ACETYLNEURAMINIC ACID SYNTHETASE; CMAS", "OMIM:603317": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ", "OMIM:603319": "ANNEXIN A9; ANXA9", "OMIM:603320": "MATRIX METALLOPROTEINASE 23A; MMP23A", "OMIM:603321": "MATRIX METALLOPROTEINASE 23B; MMP23B", "OMIM:603322": "NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 6; NDUFB6", "OMIM:603323": "MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY", "OMIM:603324": "GAP JUNCTION PROTEIN, BETA-3; GJB3", "OMIM:603325": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9B; PPP1R9B", "OMIM:603326": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3D; PPP1R3D", "OMIM:603327": "RAN-BINDING PROTEIN 3; RANBP3", "OMIM:603328": "MUSASHI RNA BINDING PROTEIN 1; MSI1", "OMIM:603330": "DYNEIN, AXONEMAL, HEAVY CHAIN 9; DNAH9", "OMIM:603331": "DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 2; DYNC1I2", "OMIM:603332": "DYNEIN, AXONEMAL, HEAVY CHAIN 1; DNAH1", "OMIM:603333": "DYNEIN, AXONEMAL, HEAVY CHAIN 2; DNAH2", "OMIM:603334": "DYNEIN, AXONEMAL, HEAVY CHAIN 3; DNAH3", "OMIM:603335": "DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5", "OMIM:603336": "DYNEIN, AXONEMAL, HEAVY CHAIN 6; DNAH6", "OMIM:603337": "DYNEIN, AXONEMAL, HEAVY CHAIN 8; DNAH8", "OMIM:603339": "DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11", "OMIM:603340": "DYNEIN, AXONEMAL, HEAVY CHAIN 12; DNAH12", "OMIM:603341": "DYNEIN, AXONEMAL, HEAVY CHAIN 14; DNAH14", "OMIM:603342": "SCHIZOPHRENIA 2; SCZD2", "OMIM:603343": "RIBONUCLEIC ACID EXPORT PROTEIN 1; RAE1", "OMIM:603344": "USO1 VESICLE TRANSPORT FACTOR; USO1", "OMIM:603345": "SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 4; SLC4A4", "OMIM:603346": "NEURONAL PAS DOMAIN PROTEIN 1; NPAS1", "OMIM:603347": "NEURONAL PAS DOMAIN PROTEIN 2; NPAS2", "OMIM:603348": "HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A", "OMIM:603349": "ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1", "OMIM:603350": "2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 2; OAS2", "OMIM:603351": "2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 3; OAS3", "OMIM:603352": "BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5", "OMIM:603353": "SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 7; SLC4A7", "OMIM:603354": "GASTRULATION BRAIN HOMEOBOX 1; GBX1", "OMIM:603355": "MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 1; MBTPS1", "OMIM:603356": "CD164 ANTIGEN; CD164", "OMIM:603357": "SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 7; SERPINB7", "OMIM:603359": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A8; NDUFA8", "OMIM:603360": "PEROXISOME BIOGENESIS FACTOR 16; PEX16", "OMIM:603361": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B", "OMIM:603362": "SH3 DOMAIN, GRB2-LIKE, 3; SH3GL3", "OMIM:603363": "CGG-BINDING PROTEIN 1; CGGBP1", "OMIM:603364": "SPLICING FACTOR, SERINE/ARGININE-RICH, 3; SRSF3", "OMIM:603365": "HIRA-INTERACTING PROTEIN 3; HIRIP3", "OMIM:603366": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 25; TNFRSF25", "OMIM:603368": "CYCLIN-DEPENDENT KINASE 6; CDK6", "OMIM:603369": "CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C", "OMIM:603370": "UDP-GLUCOSE DEHYDROGENASE; UGDH", "OMIM:603371": "GLE1, RNA EXPORT MEDIATOR; GLE1", "OMIM:603372": "THYROID-STIMULATING HORMONE RECEPTOR; TSHR", "OMIM:603375": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 5; SMARCA5", "OMIM:603376": "LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF", "OMIM:603377": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5", "OMIM:603378": "SIN3-ASSOCIATED POLYPEPTIDE, 30-KD; SAP30", "OMIM:603379": "IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1", "OMIM:603380": "LIN7 HOMOLOG A, CRUMBS CELL POLARITY COMPLEX COMPONENT; LIN7A", "OMIM:603381": "FILAMIN B; FLNB", "OMIM:603382": "MutS HOMOLOG 5; MSH5", "OMIM:603384": "SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1", "OMIM:603385": "NEDD8-ACTIVATING ENZYME E1, SUBUNIT 1; NAE1", "OMIM:603386": "THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA", "OMIM:603388": "GRAVES DISEASE, SUSCEPTIBILITY TO, 2", "OMIM:603389": "OSEBOLD SKELETAL DYSPLASIA/OSTEOLYSIS SYNDROME", "OMIM:603390": "PHOSPHODIESTERASE 8B; PDE8B", "OMIM:603392": "BCL2-INTERACTING KILLER; BIK", "OMIM:603393": "OSTEOSCLEROTIC CHONDRODYSPLASIA, LETHAL, WITH INTRACELLULAR INCLUSIONS", "OMIM:603394": "MICROCEPHALY, SEVERE, WITH SKELETAL ANOMALIES INCLUDING POSTERIOR RIB-GAP DEFECTS", "OMIM:603395": "SPERM-ASSOCIATED ANTIGEN 1; SPAG1", "OMIM:603396": "TONOKI SYNDROME", "OMIM:603397": "ZINC FINGER PROTEIN 282; ZNF282", "OMIM:603398": "CELLULAR COMMUNICATION NETWORK FACTOR 4; CCN4", "OMIM:603399": "CELLULAR COMMUNICATION NETWORK FACTOR 5; CCN5", "OMIM:603400": "CELLULAR COMMUNICATION NETWORK FACTOR 6; CCN6", "OMIM:603401": "ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1", "OMIM:603402": "ACYL-CoA OXIDASE 3, PRISTANOYL; ACOX3", "OMIM:603403": "DEAH-BOX HELICASE 15; DHX15", "OMIM:603404": "ZINC FINGER PROTEIN 169; ZNF169", "OMIM:603405": "DEAH-BOX HELICASE 16; DHX16", "OMIM:603406": "TRIPARTITE MOTIF-CONTAINING PROTEIN 24; TRIM24", "OMIM:603407": "POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 4; PABPC4", "OMIM:603408": "FRIZZLED CLASS RECEPTOR 1; FZD1", "OMIM:603409": "FRIZZLED CLASS RECEPTOR 6; FZD6", "OMIM:603410": "FRIZZLED CLASS RECEPTOR 7; FZD7", "OMIM:603411": "EFFECTOR CELL PROTEASE RECEPTOR 1; EPR1", "OMIM:603412": "CDC42-BINDING PROTEIN KINASE, ALPHA; CDC42BPA", "OMIM:603413": "TIA1 CYTOTOXIC GRANULE-ASSOCIATED RNA-BINDING PROTEIN-LIKE 1; TIAL1", "OMIM:603414": "TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 2; TM7SF2", "OMIM:603415": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 9; SCN9A", "OMIM:603416": "RIBOSOMAL PROTEIN L21 PSEUDOGENE 1; RPL21P1", "OMIM:603417": "RAB-INTERACTING FACTOR; RABIF", "OMIM:603418": "ALDO-KETO REDUCTASE FAMILY 7, MEMBER A2; AKR7A2", "OMIM:603419": "SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT-CONTAINING COCHAPERONE, ALPHA; SGTA", "OMIM:603420": "CALUMENIN; CALU", "OMIM:603421": "TRANSMEMBRANE PROTEIN WITH EGF-LIKE AND 2 FOLLISTATIN-LIKE DOMAINS 1; TMEFF1", "OMIM:603422": "PDZ AND LIM DOMAIN PROTEIN 4; PDLIM4", "OMIM:603423": "PR DOMAIN-CONTAINING PROTEIN 1; PRDM1", "OMIM:603424": "PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT ACTIVATOR; PRKRA", "OMIM:603425": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 1; ARL1", "OMIM:603426": "PERIOD CIRCADIAN REGULATOR 2; PER2", "OMIM:603427": "PERIOD CIRCADIAN REGULATOR 3; PER3", "OMIM:603428": "ZINC FINGER PROTEIN 207; ZNF207", "OMIM:603429": "ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 1; ABCF1", "OMIM:603430": "ZINC FINGER PROTEIN 202; ZNF202", "OMIM:603431": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4H; EIF4H", "OMIM:603432": "CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 2; CLIP2", "OMIM:603433": "ZINC FINGER PROTEIN 143; ZNF143", "OMIM:603434": "PROLIFERATION AND APOPTOSIS ADAPTOR PROTEIN 15; PEA15", "OMIM:603435": "GLUTATHIONE PEROXIDASE 5; GPX5", "OMIM:603436": "ZINC FINGER PROTEIN 205; ZNF205", "OMIM:603437": "Y-BOX BINDING PROTEIN 3; YBX3", "OMIM:603438": "TSUKAHARA SYNDROME", "OMIM:603439": "EXPANSILE BONE LESIONS", "OMIM:603440": "CYCLIN-DEPENDENT KINASE 17; CDK17", "OMIM:603441": "CYCLIN-DEPENDENT KINASE-LIKE 1; CDKL1", "OMIM:603442": "CYCLIN-DEPENDENT KINASE-LIKE 2; CDKL2", "OMIM:603443": "VPS52 SUBUNIT OF GARP COMPLEX; VPS52", "OMIM:603444": "FAR UPSTREAM ELEMENT-BINDING PROTEIN 1; FUBP1", "OMIM:603445": "KH-TYPE SPLICING REGULATORY PROTEIN; KHSRP", "OMIM:603446": "OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE", "OMIM:603447": "HARAKIRI; HRK", "OMIM:603448": "DAB ADAPTOR PROTEIN 1; DAB1", "OMIM:603449": "RUVB-LIKE AAA ATPase 1; RUVBL1", "OMIM:603450": "LIM DOMAIN-BINDING 2; LDB2", "OMIM:603451": "LIM DOMAIN-BINDING 1; LDB1", "OMIM:603453": "RECEPTOR-INTERACTING SERINE/THREONINE KINASE 1; RIPK1", "OMIM:603454": "CASP2 AND RIPK1 DOMAIN-CONTAINING ADAPTOR WITH DEATH DOMAIN; CRADD", "OMIM:603455": "RECEPTOR-INTERACTING SERINE/THREONINE KINASE 2; RIPK2", "OMIM:603456": "DIPHTHAMIDE BIOSYNTHESIS PROTEIN 2; DPH2", "OMIM:603458": "ELAV-LIKE RNA-BINDING PROTEIN 3; ELAVL3", "OMIM:603460": "CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 1; CDK5R1", "OMIM:603461": "CELL DIVISION CYCLE 16; CDC16", "OMIM:603462": "CELL DIVISION CYCLE 23; CDC23", "OMIM:603464": "CYCLIN-DEPENDENT KINASE 10; CDK10", "OMIM:603465": "CELL DIVISION CYCLE 45; CDC45", "OMIM:603466": "ELAV-LIKE RNA-BINDING PROTEIN 1; ELAVL1", "OMIM:603470": "ARGININOSUCCINATE SYNTHETASE 1; ASS1", "OMIM:603473": "LARGE TUMOR SUPPRESSOR KINASE 1; LATS1", "OMIM:603474": "RIBOSOMAL PROTEIN S19; RPS19", "OMIM:603475": "CHORDIN; CHRD", "OMIM:603476": "cAMP RESPONSE ELEMENT-BINDING PROTEIN-LIKE 2; CREBL2", "OMIM:603477": "BUD31 HOMOLOG; BUD31", "OMIM:603478": "UBIQUITIN-SPECIFIC PROTEASE 1; USP1", "OMIM:603479": "EXTRACELLULAR MATRIX PROTEIN 2; ECM2", "OMIM:603481": "PROTEASOME 26S SUBUNIT, NON-ATPase, 13; PSMD13", "OMIM:603482": "BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC", "OMIM:603483": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 3; EIF4EBP3", "OMIM:603484": "PROTEIN REGULATING CYTOKINESIS 1; PRC1", "OMIM:603485": "NFS1 CYSTEINE DESULFURASE 1; NFS1", "OMIM:603486": "UBIQUITIN-SPECIFIC PROTEASE 4; USP4", "OMIM:603487": "MYOSIN, SKELETAL MUSCLE, HEAVY CHAIN 13; MYH13", "OMIM:603488": "ANGIO-ASSOCIATED MIGRATORY CELL PROTEIN; AAMP", "OMIM:603489": "CARTILAGE INTERMEDIATE LAYER PROTEIN; CILP", "OMIM:603490": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4", "OMIM:603491": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 3; IGSF3", "OMIM:603492": "SLAM FAMILY, MEMBER 1; SLAMF1", "OMIM:603493": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 5; KCNK5", "OMIM:603494": "PREFOLDIN-LIKE CHAPERONE URI1; URI1", "OMIM:603495": "AURORA KINASE C; AURKC", "OMIM:603496": "DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 2; DYRK2", "OMIM:603497": "DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 3; DYRK3", "OMIM:603498": "SPHINGOMYELIN PHOSPHODIESTERASE 2, NEUTRAL MEMBRANE; SMPD2", "OMIM:603499": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A", "OMIM:603500": "TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN; TRADD", "OMIM:603501": "POLY(ADP-RIBOSE) GLYCOHYDROLASE; PARG", "OMIM:603502": "INTERFERON-RELATED DEVELOPMENTAL REGULATOR 1; IFRD1", "OMIM:603503": "DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1", "OMIM:603504": "CELL DIVISION CYCLE 14A; CDC14A", "OMIM:603505": "CELL DIVISION CYCLE 14B; CDC14B", "OMIM:603506": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5", "OMIM:603507": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6", "OMIM:603508": "MYOMESIN 1; MYOM1", "OMIM:603509": "MYOMESIN 2; MYOM2", "OMIM:603512": "RNA GUANYLYLTRANSFERASE AND 5-PRIME-PHOSPHATASE; RNGTT", "OMIM:603514": "RNA GUANINE-7-METHYLTRANSFERASE; RNMT", "OMIM:603515": "CHORIONIC SOMATOMAMMOTROPIN HORMONE-LIKE 1; CSHL1", "OMIM:603517": "BCL10 IMMUNE SIGNALING ADAPTOR; BCL10", "OMIM:603518": "TIA1 CYTOTOXIC GRANULE-ASSOCIATED RNA-BINDING PROTEIN; TIA1", "OMIM:603519": "SURVIVAL MOTOR NEURON DOMAIN-CONTAINING PROTEIN 1; SMNDC1", "OMIM:603520": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE B-DOUBLE PRIME; SNRPB2", "OMIM:603521": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A-PRIME; SNRPA1", "OMIM:603522": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE C; SNRPC", "OMIM:603523": "CHYLOTHORAX, CONGENITAL", "OMIM:603524": "RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 2; RCBTB2", "OMIM:603525": "NMYC INTERACTOR; NMI", "OMIM:603526": "METASTASIS-ASSOCIATED GENE 1; MTA1", "OMIM:603527": "DIPHTHAMIDE BIOSYNTHESIS PROTEIN 1; DPH1", "OMIM:603531": "ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-1 SUBUNIT; AP1S1", "OMIM:603533": "ADAPTOR-RELATED PROTEIN COMPLEX 1, GAMMA-1 SUBUNIT; AP1G1", "OMIM:603534": "ADAPTOR-RELATED PROTEIN COMPLEX 1, GAMMA-2 SUBUNIT; AP1G2", "OMIM:603535": "ADAPTOR-RELATED PROTEIN COMPLEX 1, MU-1 SUBUNIT; AP1M1", "OMIM:603536": "FAR UPSTREAM ELEMENT-BINDING PROTEIN 3; FUBP3", "OMIM:603537": "POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4", "OMIM:603538": "KYNURENINE 3-MONOOXYGENASE; KMO", "OMIM:603539": "CATHEPSIN F; CTSF", "OMIM:603540": "GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1", "OMIM:603541": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE F; SNRPF", "OMIM:603542": "SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE G; SNRPG", "OMIM:603544": "CYCLIN K; CCNK", "OMIM:603547": "METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2", "OMIM:603548": "CDP-DIACYLGLYCEROL SYNTHASE 1; CDS1", "OMIM:603549": "CDP-DIACYLGLYCEROL SYNTHASE 2; CDS2", "OMIM:603550": "EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 4; EYA4", "OMIM:603551": "HYALURONOGLUCOSAMINIDASE 2; HYAL2", "OMIM:603555": "SPT4 HOMOLOG, DSIF ELONGATION FACTOR SUBUNIT; SUPT4H1", "OMIM:603557": "MYOTUBULARIN-RELATED PROTEIN 2; MTMR2", "OMIM:603558": "MYOTUBULARIN-RELATED PROTEIN 3; MTMR3", "OMIM:603559": "MYOTUBULARIN-RELATED PROTEIN 4; MTMR4", "OMIM:603560": "SET-BINDING FACTOR 1; SBF1", "OMIM:603561": "MYOTUBULARIN-RELATED PROTEIN 6; MTMR6", "OMIM:603562": "MYOTUBULARIN-RELATED PROTEIN 7; MTMR7", "OMIM:603564": "DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 2, REGULATORY SUBUNIT; DPM2", "OMIM:603565": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 4; GALNT4", "OMIM:603566": "PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1", "OMIM:603567": "PROTEIN INHIBITOR OF ACTIVATED STAT2; PIAS2", "OMIM:603568": "RNA, U73 SMALL NUCLEOLAR; RNU73", "OMIM:603569": "TRACHEOBRONCHIAL STENOSIS, CONGENITAL", "OMIM:603570": "VANIN 1; VNN1", "OMIM:603571": "VANIN 2; VNN2", "OMIM:603572": "MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:603573": "METHYL-CpG-BINDING DOMAIN PROTEIN 3; MBD3", "OMIM:603574": "METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4", "OMIM:603575": "NME/NM23 FAMILY, MEMBER 5; NME5", "OMIM:603576": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1; TRPM1", "OMIM:603577": "NUCLEOLAR PROTEIN 4; NOL4", "OMIM:603578": "OVIDUCTAL GLYCOPROTEIN 1; OVGP1", "OMIM:603579": "RIO KINASE 3; RIOK3", "OMIM:603580": "PROTOCADHERIN 8; PCDH8", "OMIM:603581": "PROTOCADHERIN 9; PCDH9", "OMIM:603582": "TOPOISOMERASE, DNA, III, BETA; TOP3B", "OMIM:603583": "DISCS LARGE MAGUK SCAFFOLD PROTEIN 2; DLG2", "OMIM:603584": "MAP KINASE-ACTIVATING DEATH DOMAIN; MADD", "OMIM:603587": "FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS", "OMIM:603588": "PAROTITIS, JUVENILE RECURRENT", "OMIM:603589": "FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION", "OMIM:603590": "ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE1", "OMIM:603591": "UBIQUITIN-SPECIFIC PROTEASE 13; USP13", "OMIM:603593": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 7; SLC7A7", "OMIM:603594": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4", "OMIM:603595": "CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS", "OMIM:603596": "POLYDACTYLY", "OMIM:603597": "SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1", "OMIM:603598": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10", "OMIM:603599": "CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR", "OMIM:603600": "OSTEOMA OF CRANIAL VAULT, FAMILIAL", "OMIM:603601": "PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, ALPHA; PIK3C2A", "OMIM:603602": "PHOSPHOLIPASE A2, GROUP IVC; PLA2G4C", "OMIM:603603": "PHOSPHOLIPASE A2, GROUP X; PLA2G10", "OMIM:603604": "PHOSPHOLIPASE A2, GROUP VI; PLA2G6", "OMIM:603605": "AMINOACYL-tRNA SYNTHETASE COMPLEX-INTERACTING MULTIFUNCTIONAL PROTEIN 1; AIMP1", "OMIM:603606": "RIBOSOMAL PROTEIN S6 KINASE A4; RPS6KA4", "OMIM:603607": "RIBOSOMAL PROTEIN S6 KINASE A5; RPS6KA5", "OMIM:603608": "CARBONYL REDUCTASE 3; CBR3", "OMIM:603609": "FUCOSE-1-PHOSPHATE GUANYLYLTRANSFERASE; FPGT", "OMIM:603610": "UNC5 NETRIN RECEPTOR C; UNC5C", "OMIM:603611": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10A; TNFRSF10A", "OMIM:603612": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10B; TNFRSF10B", "OMIM:603613": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C", "OMIM:603614": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10D; TNFRSF10D", "OMIM:603615": "RAD54-LIKE; RAD54L", "OMIM:603616": "RABAPTIN, RAB GTPase-BINDING EFFECTOR PROTEIN 1; RABEP1", "OMIM:603617": "SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 1; SLC24A1", "OMIM:603618": "CELL DIVISION CYCLE 20; CDC20", "OMIM:603619": "FIZZY AND CELL DIVISION CYCLE 20-RELATED PROTEIN 1; FZR1", "OMIM:603620": "PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1", "OMIM:603621": "FORKHEAD BOX H1; FOXH1", "OMIM:603623": "TYROSYL-tRNA SYNTHETASE 1; YARS1", "OMIM:603624": "RIBOSOMAL PROTEIN S2; RPS2", "OMIM:603625": "LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS H; LY6H", "OMIM:603626": "PROTOCADHERIN 1; PCDH1", "OMIM:603627": "PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 3; PCDHGC3", "OMIM:603628": "MUSCULIN; MSC", "OMIM:603630": "RIBOSOMAL PROTEIN S5; RPS5", "OMIM:603631": "RIBOSOMAL PROTEIN S9; RPS9", "OMIM:603632": "RIBOSOMAL PROTEIN S10; RPS10", "OMIM:603633": "RIBOSOMAL PROTEIN S29; RPS29", "OMIM:603634": "RIBOSOMAL PROTEIN L5; RPL5", "OMIM:603635": "SMALL NUCLEOLAR RNA, C/D box, 21; SNORD21", "OMIM:603636": "RIBOSOMAL PROTEIN L21; RPL21", "OMIM:603637": "RIBOSOMAL PROTEIN L27a; RPL27A", "OMIM:603638": "RIBOSOMAL PROTEIN L28; RPL28", "OMIM:603639": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17", "OMIM:603640": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 19; ADAM19", "OMIM:603641": "NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA", "OMIM:603642": "ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS", "OMIM:603643": "SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS", "OMIM:603644": "SYNTHESIS OF CYTOCHROME c OXIDASE 1; SCO1", "OMIM:603645": "GLUTAMYL-tRNA AMIDOTRANSFERASE, SUBUNIT B; GATB", "OMIM:603646": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX15; COX15", "OMIM:603647": "BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE; BCS1L", "OMIM:603648": "CYTOCHROME c OXIDASE COPPER CHAPERONE COX11; COX11", "OMIM:603650": "BBS5 GENE; BBS5", "OMIM:603651": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 4; TRPC4", "OMIM:603652": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6; TRPC6", "OMIM:603653": "REMOVED FROM DATABASE", "OMIM:603654": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 7; SLC16A7", "OMIM:603656": "EXOSTOSIS, DUPUYTREN SUBUNGUAL", "OMIM:603657": "VESICLE-ASSOCIATED MEMBRANE PROTEIN 3; VAMP3", "OMIM:603658": "RIBOSOMAL PROTEIN S7; RPS7", "OMIM:603659": "GLUCAGON-LIKE PEPTIDE 2 RECEPTOR; GLP2R", "OMIM:603660": "RIBOSOMAL PROTEIN S12; RPS12", "OMIM:603661": "RIBOSOMAL PROTEIN L17; RPL17", "OMIM:603662": "RIBOSOMAL PROTEIN L23; RPL23", "OMIM:603663": "MENTAL HEALTH WELLNESS 1", "OMIM:603664": "MENTAL HEALTH WELLNESS 2", "OMIM:603665": "STANNIOCALCIN 2; STC2", "OMIM:603666": "SYNTAXIN 16; STX16", "OMIM:603667": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12; SLC25A12", "OMIM:603668": "SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 11; SCAF11", "OMIM:603669": "ECCRINE SYRINGOFIBROADENOMATOSIS WITH EYELID ABNORMALITIES", "OMIM:603670": "BLUE NEVI, FAMILIAL MULTIPLE", "OMIM:603672": "CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2, TRANSLOCATED TO, 2; CBFA2T2", "OMIM:603673": "PATCHED 2; PTCH2", "OMIM:603674": "RIBOSOMAL PROTEIN S15a; RPS15A", "OMIM:603675": "RIBOSOMAL PROTEIN S16; RPS16", "OMIM:603677": "MYELIN TRANSCRIPTION FACTOR 2; MYT2", "OMIM:603679": "UBIQUITIN-CONJUGATING ENZYME E2 N; UBE2N", "OMIM:603680": "ATAXIN 8 OPPOSITE STRAND; ATXN8OS", "OMIM:603681": "OTOFERLIN; OTOF", "OMIM:603682": "RIBOSOMAL PROTEIN S20; RPS20", "OMIM:603683": "RIBOSOMAL PROTEIN S23; RPS23", "OMIM:603684": "LIPASE, ENDOTHELIAL; LIPG", "OMIM:603685": "RIBOSOMAL PROTEIN S28; RPS28", "OMIM:603686": "RIBOSOMAL PROTEIN L9; RPL9", "OMIM:603687": "ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2", "OMIM:603690": "SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1", "OMIM:603691": "GALANIN RECEPTOR 2; GALR2", "OMIM:603692": "GALANIN RECEPTOR 3; GALR3", "OMIM:603693": "ZINC FINGER PROTEIN, FOG FAMILY MEMBER 2; ZFPM2", "OMIM:603694": "TYPE 2 DIABETES MELLITUS 3; T2D3", "OMIM:603695": "GUANYLATE CYCLASE 1, SOLUBLE, BETA-2; GUCY1B2", "OMIM:603696": "SEPTIN 4; SEPTIN4", "OMIM:603697": "ARACHIDONATE 15-LIPOXYGENASE, SECOND TYPE; ALOX15B", "OMIM:603698": "GOLGI-SPECIFIC BREFELDIN-A RESISTANCE FACTOR 1; GBF1", "OMIM:603699": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11", "OMIM:603700": "ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP", "OMIM:603701": "RIBOSOMAL PROTEIN S26; RPS26", "OMIM:603702": "RIBOSOMAL PROTEIN S27; RPS27", "OMIM:603703": "RIBOSOMAL PROTEIN L6; RPL6", "OMIM:603704": "RIBOSOMAL PROTEIN L26; RPL26", "OMIM:603705": "ANGIOPOIETIN 4; ANGPT4", "OMIM:603706": "SEMAPHORIN 4F; SEMA4F", "OMIM:603707": "MOLYBDENUM COFACTOR SYNTHESIS GENE 1; MOCS1", "OMIM:603708": "MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2", "OMIM:603709": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 22; ADAM22", "OMIM:603710": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 23; ADAM23", "OMIM:603711": "CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1", "OMIM:603712": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 20; ADAM20", "OMIM:603713": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 21; ADAM21", "OMIM:603714": "SIX HOMEOBOX 3; SIX3", "OMIM:603715": "GLIAL CELLS MISSING TRANSCRIPTION FACTOR 1; GCM1", "OMIM:603716": "GLIAL CELLS MISSING TRANSCRIPTION FACTOR 2; GCM2", "OMIM:603717": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 21-KD, V0 SUBUNIT C-PRIME, PRIME; ATP6V0B", "OMIM:603718": "CLAUDIN 1; CLDN1", "OMIM:603719": "BUB3 MITOTIC CHECKPOINT PROTEIN; BUB3", "OMIM:603721": "UBIQUITIN-CONJUGATING ENZYME E2 L3; UBE2L3", "OMIM:603722": "ELONGATOR COMPLEX PROTEIN 1; ELP1", "OMIM:603725": "FIBROBLAST GROWTH FACTOR 17; FGF17", "OMIM:603726": "FIBROBLAST GROWTH FACTOR 18; FGF18", "OMIM:603727": "GLUTAMINYL-tRNA SYNTHETASE 1; QARS1", "OMIM:603728": "NUMB ENDOCYTIC ADAPTOR PROTEIN; NUMB", "OMIM:603729": "SPHINGOSINE-1-PHOSPHATE LYASE 1; SGPL1", "OMIM:603730": "SPHINGOSINE KINASE 1; SPHK1", "OMIM:603731": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 8; CNOT8", "OMIM:603732": "CRYPTOCHROME 2; CRY2", "OMIM:603733": "SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 1; SLC43A1", "OMIM:603734": "INTERFERON REGULATORY FACTOR 3; IRF3", "OMIM:603735": "AMINE OXIDASE, COPPER-CONTAINING, 3; AOC3", "OMIM:603737": "OVARIAN GERM CELL CANCER", "OMIM:603738": "BASIC TRANSCRIPTION FACTOR 3 PSEUDOGENE 12; BTF3P12", "OMIM:603739": "BASIC TRANSCRIPTION FACTOR 3 PSEUDOGENE 13; BTF3P13", "OMIM:603740": "ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA", "OMIM:603741": "ARACHIDONATE 12-LIPOXYGENASE, R TYPE; ALOX12B", "OMIM:603742": "SLIT GUIDANCE LIGAND 1; SLIT1", "OMIM:603743": "APOLIPOPROTEIN L1; APOL1", "OMIM:603744": "PAPILLARY THYROID MICROCARCINOMA", "OMIM:603745": "SLIT GUIDANCE LIGAND 3; SLIT3", "OMIM:603746": "SLIT GUIDANCE LIGAND 2; SLIT2", "OMIM:603747": "TUMOR PROTEIN D52-LIKE 2; TPD52L2", "OMIM:603749": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2; TRPM2", "OMIM:603750": "AQUAPORIN 8; AQP8", "OMIM:603751": "SPHINGOSINE-1-PHOSPHATE RECEPTOR 4; S1PR4", "OMIM:603752": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 4; SLC7A4", "OMIM:603753": "UBIQUITINATION FACTOR E4A; UBE4A", "OMIM:603754": "KINESIN FAMILY MEMBER 3B; KIF3B", "OMIM:603755": "ZINC FINGER FYVE TYPE-CONTAINING PROTEIN 9; ZFYVE9", "OMIM:603756": "ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2", "OMIM:603757": "CHEMOKINE, CC MOTIF, LIGAND 18; CCL18", "OMIM:603758": "GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1", "OMIM:603759": "LIM HOMEOBOX GENE 2; LHX2", "OMIM:603760": "HUS1 CHECKPOINT CLAMP COMPONENT; HUS1", "OMIM:603761": "RAD9A CHECKPOINT CLAMP COMPONENT A; RAD9A", "OMIM:603762": "PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE-ASSOCIATED PROTEIN 2; PRPSAP2", "OMIM:603763": "KINESIN FAMILY MEMBER C1; KIFC1", "OMIM:603764": "CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 2; CDK5R2", "OMIM:603765": "SYNTAXIN 10; STX10", "OMIM:603766": "MITOCHONDRIAL TRANSLATIONAL INITIATION FACTOR 2; MTIF2", "OMIM:603767": "KALLIKREIN-RELATED PEPTIDASE 4; KLK4", "OMIM:603768": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12B; PPP1R12B", "OMIM:603769": "T-CELL LYMPHOMA/LEUKEMIA 1B; TCL1B", "OMIM:603770": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1B; PPM1B", "OMIM:603771": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 10; PPP1R10", "OMIM:603772": "DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 1; DYNC1I1", "OMIM:603773": "CYTOCHROME c OXIDASE, SUBUNIT 5A; COX5A", "OMIM:603774": "CYTOCHROME c OXIDASE, SUBUNIT 7C; COX7C", "OMIM:603775": "CYCLIN E2; CCNE2", "OMIM:603777": "CERBERUS 1, DAN FAMILY BMP ANTAGONIST; CER1", "OMIM:603778": "CDY-LIKE PROTEIN; CDYL", "OMIM:603779": "SYNUCLEIN-ALPHA-INTERACTING PROTEIN; SNCAIP", "OMIM:603780": "RECQ PROTEIN-LIKE 4; RECQL4", "OMIM:603781": "RECQ PROTEIN-LIKE 5; RECQL5", "OMIM:603782": "CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 1; CCL4L1", "OMIM:603783": "INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1", "OMIM:603784": "PPTG1-INTERACTING PROTEIN; PTTG1IP", "OMIM:603785": "MULTIPLE PDZ DOMAIN CRUMBS CELL POLARITY COMPLEX COMPONENT; MPDZ", "OMIM:603787": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY F, MEMBER 1; KCNF1", "OMIM:603788": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 1; KCNG1", "OMIM:603790": "SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1", "OMIM:603791": "SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2", "OMIM:603793": "REMOVED FROM DATABASE", "OMIM:603794": "HYDROA VACCINIFORME, FAMILIAL", "OMIM:603795": "LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR; LITAF", "OMIM:603796": "POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2; KCNE2", "OMIM:603797": "CARBOHYDRATE SULFOTRANSFERASE 1; CHST1", "OMIM:603798": "CARBOHYDRATE SULFOTRANSFERASE 2; CHST2", "OMIM:603799": "CARBOHYDRATE SULFOTRANSFERASE 3; CHST3", "OMIM:603800": "MEDIATOR COMPLEX SUBUNIT 21; MED21", "OMIM:603801": "N-MYRISTOYLTRANSFERASE 2; NMT2", "OMIM:603802": "MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN", "OMIM:603803": "DACHSHUND FAMILY TRANSCRIPTION FACTOR 1; DACH1", "OMIM:603804": "NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 1; NEURL1", "OMIM:603805": "TRANSGLUTAMINASE 5; TGM5", "OMIM:603806": "URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO", "OMIM:603808": "MEDIATOR COMPLEX SUBUNIT 13; MED13", "OMIM:603809": "THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 3; THRAP3", "OMIM:603810": "MEDIATOR COMPLEX SUBUNIT 17; MED17", "OMIM:603811": "BARRIER-TO-AUTOINTEGRATION FACTOR 1; BANF1", "OMIM:603812": "DDB1- AND CUL4-ASSOCIATED FACTOR 5; DCAF5", "OMIM:603814": "RING-BOX 1; RBX1", "OMIM:603815": "KINESIN FAMILY MEMBER 25; KIF25", "OMIM:603816": "AXIS INHIBITOR 1; AXIN1", "OMIM:603817": "DEVELOPMENT- AND DIFFERENTIATION-ENHANCING FACTOR 2; DDEF2", "OMIM:603818": "NEUREGULIN 2; NRG2", "OMIM:603819": "STEROID RECEPTOR RNA ACTIVATOR 1; SRA1", "OMIM:603820": "FREE FATTY ACID RECEPTOR 1; FFAR1", "OMIM:603821": "FREE FATTY ACID RECEPTOR 3; FFAR3", "OMIM:603822": "G PROTEIN-COUPLED RECEPTOR 42; GPR42", "OMIM:603823": "FREE FATTY ACID RECEPTOR 2; FFAR2", "OMIM:603824": "UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE", "OMIM:603825": "HYPERMETHYLATED IN CANCER 1; HIC1", "OMIM:603826": "NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4", "OMIM:603827": "BCL2-LIKE 11; BCL2L11", "OMIM:603828": "BRITTLE BONE DISORDER", "OMIM:603831": "PDZ DOMAIN-CONTAINING 1; PDZK1", "OMIM:603832": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A3; NDUFA3", "OMIM:603833": "CYTOCHROME C OXIDASE SUBUNIT FA4; COXFA4", "OMIM:603834": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A9; NDUFA9", "OMIM:603835": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A10; NDUFA10", "OMIM:603836": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT AB1; NDUFAB1", "OMIM:603837": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT B1; NDUFB1", "OMIM:603838": "NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 2; NDUFB2", "OMIM:603839": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT B3; NDUFB3", "OMIM:603840": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT B4; NDUFB4", "OMIM:603841": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT B5; NDUFB5", "OMIM:603842": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT B7; NDUFB7", "OMIM:603843": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT B10; NDUFB10", "OMIM:603844": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT C1; NDUFC1", "OMIM:603845": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT C2; NDUFC2", "OMIM:603846": "NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3; NDUFS3", "OMIM:603847": "NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 5; NDUFS5", "OMIM:603848": "NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 6; NDUFS6", "OMIM:603849": "NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1", "OMIM:603850": "DYNAMIN 1-LIKE; DNM1L", "OMIM:603851": "PAIRED-LIKE HOMEOBOX 2B; PHOX2B", "OMIM:603852": "TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 4; TSSC4", "OMIM:603853": "TETRASPANIN 32; TSPAN32", "OMIM:603854": "RAN-BINDING PROTEIN 9; RANBP9", "OMIM:603856": "MAKORIN 3; MKRN3", "OMIM:603857": "MKRN3 ANTISENSE RNA; MKRN3AS", "OMIM:603859": "SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13", "OMIM:603861": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15; SLC25A15", "OMIM:603862": "CYCLIN T2; CCNT2", "OMIM:603863": "RING FINGER PROTEIN 7; RNF7", "OMIM:603864": "COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE; CCS", "OMIM:603865": "GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 2; GFPT2", "OMIM:603866": "PEROXISOME BIOGENESIS FACTOR 11A; PEX11A", "OMIM:603867": "PEROXISOME BIOGENESIS FACTOR 11B; PEX11B", "OMIM:603868": "RAS-ASSOCIATED PROTEIN RAB27A; RAB27A", "OMIM:603869": "RAS-ASSOCIATED PROTEIN RAB27B; RAB27B", "OMIM:603870": "CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 3; CBFA2T3", "OMIM:603871": "BYSTIN-LIKE; BYSL", "OMIM:603872": "TROPHININ-ASSOCIATED PROTEIN; TROAP", "OMIM:603873": "PHOSPHOLIPASE A2-ACTIVATING PROTEIN; PLAA", "OMIM:603874": "ANGIOPOIETIN-LIKE 1; ANGPTL1", "OMIM:603875": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 8; TNFSF8", "OMIM:603876": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 4; ADAMTS4", "OMIM:603877": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 3; SLC16A3", "OMIM:603878": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 4; SLC16A4", "OMIM:603879": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 5; SLC16A5", "OMIM:603880": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 6; SLC16A6", "OMIM:603881": "NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 3; NR1I3", "OMIM:603882": "BAG COCHAPERONE 2; BAG2", "OMIM:603883": "BAG COCHAPERONE 3; BAG3", "OMIM:603884": "BAG COCHAPERONE 4; BAG4", "OMIM:603885": "BAG COCHAPERONE 5; BAG5", "OMIM:603886": "ARTEMIN; ARTN", "OMIM:603887": "TIMELESS CIRCADIAN REGULATOR; TIMELESS", "OMIM:603888": "POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 3; KCNS3", "OMIM:603889": "SIGNAL REGULATORY PROTEIN, BETA-1; SIRPB1", "OMIM:603890": "UBIQUITIN-CONJUGATING ENZYME E2 L6; UBE2L6", "OMIM:603891": "FIBROBLAST GROWTH FACTOR 19; FGF19", "OMIM:603892": "ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 2; EFTUD2", "OMIM:603893": "TRAF FAMILY MEMBER-ASSOCIATED NF-KAPPA-B ACTIVATOR; TANK", "OMIM:603894": "REGULATOR OF G PROTEIN SIGNALING 6; RGS6", "OMIM:603895": "REGULATOR OF G PROTEIN SIGNALING 11; RGS11", "OMIM:603897": "MATRILIN 4; MATN4", "OMIM:603898": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 18; TNFSF18", "OMIM:603899": "ZINC FINGER PROTEIN 85; ZNF85", "OMIM:603900": "ZINC FINGER PROTEIN 174; ZNF174", "OMIM:603901": "ZPR1 ZINC FINGER PROTEIN; ZPR1", "OMIM:603904": "INTEGRAL MEMBRANE PROTEIN 2B; ITM2B", "OMIM:603905": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 18; TNFRSF18", "OMIM:603906": "CHLORIDE CHANNEL ACCESSORY 1; CLCA1", "OMIM:603907": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1", "OMIM:603908": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 2; EIF2S2", "OMIM:603910": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT J; EIF3J", "OMIM:603911": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT I; EIF3I", "OMIM:603912": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT H; EIF3H", "OMIM:603913": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT G; EIF3G", "OMIM:603914": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT F; EIF3F", "OMIM:603915": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT D; EIF3D", "OMIM:603916": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT C; EIF3C", "OMIM:603917": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT B; EIF3B", "OMIM:603918": "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1", "OMIM:603919": "SERINE/THREONINE PROTEIN KINASE 10; STK10", "OMIM:603920": "CRYSTALLIN, ZETA-LIKE 1; CRYZL1", "OMIM:603921": "SUCCINATE-CoA LIGASE, ADP-FORMING, SUBUNIT BETA; SUCLA2", "OMIM:603922": "SUCCINATE-CoA LIGASE, GDP-FORMING, SUBUNIT BETA; SUCLG2", "OMIM:603924": "HYALURONAN-BINDING PROTEIN 2; HABP2", "OMIM:603925": "SYNAPTOGYRIN 1; SYNGR1", "OMIM:603926": "SYNAPTOGYRIN 2; SYNGR2", "OMIM:603927": "SYNAPTOGYRIN 3; SYNGR3", "OMIM:603928": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4B; EIF4B", "OMIM:603929": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 3; EIF4G3", "OMIM:603930": "GEPHYRIN; GPHN", "OMIM:603931": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E1; ATP6V0E1", "OMIM:603932": "INTERVERTEBRAL DISC DISEASE; IDD", "OMIM:603933": "MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1", "OMIM:603934": "COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1; CARM1", "OMIM:603935": "PSORIASIS 4, SUSCEPTIBILITY TO; PSORS4", "OMIM:603936": "GROWTH/DIFFERENTIATION FACTOR 11; GDF11", "OMIM:603937": "RP1 AXONEMAL MICROTUBULE-ASSOCIATED PROTEIN; RP1", "OMIM:603939": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 6; KCNK6", "OMIM:603940": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 7; KCNK7", "OMIM:603941": "SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2", "OMIM:603942": "GLYCOGENIN 1; GYG1", "OMIM:603943": "CYSTEINE DIOXYGENASE; CDO", "OMIM:603944": "SYNTAXIN 6; STX6", "OMIM:603945": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5", "OMIM:603946": "HELICASE, LYMPHOID-SPECIFIC; HELLS", "OMIM:603947": "METASTASIS-ASSOCIATED PROTEIN 2; MTA2", "OMIM:603948": "NUCLEOPORIN, 153-KD; NUP153", "OMIM:603949": "RAB7-LIKE 1; RAB7L1", "OMIM:603950": "N-DEACETYLASE/N-SULFOTRANSFERASE 3; NDST3", "OMIM:603951": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 1; KCNMB1", "OMIM:603952": "DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 1; DRG1", "OMIM:603953": "POTASSIUM INWARDLY-RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 14; KCNJ14", "OMIM:603954": "ZW10 KINETOCHORE PROTEIN; ZW10", "OMIM:603955": "FLAVIN-CONTAINING DIMETHYLANILINE MONOOXYGENASE 2; FMO2", "OMIM:603957": "FLAVIN-CONTAINING DIMETHYLANILINE MONOOXYGENASE 5; FMO5", "OMIM:603958": "REGULATORY FACTOR X, 4; RFX4", "OMIM:603959": "CLAUDIN 16; CLDN16", "OMIM:603960": "CALICIN; CCIN", "OMIM:603961": "SEMAPHORIN 3A; SEMA3A", "OMIM:603962": "RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1", "OMIM:603963": "INTEGRIN, ALPHA-9; ITGA9", "OMIM:603966": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER C3; AKR1C3", "OMIM:603967": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 4; SCN4A", "OMIM:603968": "POLYMERASE, DNA, ETA; POLH", "OMIM:603969": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B", "OMIM:603970": "PARANEOPLASTIC MA ANTIGEN 2; PNMA2", "OMIM:603971": "ZINC FINGER PROTEIN 91; ZNF91", "OMIM:603972": "ZINC FINGER PROTEIN 43; ZNF43", "OMIM:603973": "ZINC FINGER PROTEIN 90; ZNF90", "OMIM:603974": "ZINC FINGER PROTEIN 92; ZNF92", "OMIM:603975": "ZINC FINGER PROTEIN 93; ZNF93", "OMIM:603976": "ZINC FINGER PROTEIN 94; ZNF94", "OMIM:603977": "ZINC FINGER PROTEIN 208; ZNF208", "OMIM:603978": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 12; ZSCAN12", "OMIM:603979": "ZINC FINGER PROTEIN 97; ZNF97", "OMIM:603980": "ZINC FINGER PROTEIN 98; ZNF98", "OMIM:603981": "ZINC FINGER PROTEIN 99; ZNF99", "OMIM:603982": "ZINC FINGER PROTEIN 100; ZNF100", "OMIM:603983": "ZINC FINGER PROTEIN 101; ZNF101", "OMIM:603984": "ZINC FINGER PROTEIN 737; ZNF737", "OMIM:603985": "ZINC FINGER PROTEIN 103; ZNF103", "OMIM:603986": "REMOVED FROM DATABASE", "OMIM:603987": "ZINC FINGER PROTEIN 105; ZNF105", "OMIM:603988": "ZINC FINGER PROTEIN 106; ZNF106", "OMIM:603989": "ZINC FINGER PROTEIN 107; ZNF107", "OMIM:603990": "REMOVED FROM DATABASE", "OMIM:603991": "ZINC FINGER PROTEIN 109; ZNF109", "OMIM:603992": "ZINC FINGER PROTEIN 110; ZNF110", "OMIM:603993": "ZINC FINGER PROTEIN 111; ZNF111", "OMIM:603994": "ZINC FINGER PROTEIN 112; ZNF112", "OMIM:603995": "ZINC FINGER PROTEIN 113; ZNF113", "OMIM:603996": "ZINC FINGER PROTEIN 114; ZNF114", "OMIM:603997": "ZINC FINGER PROTEIN 118; ZNF118", "OMIM:603998": "ZINC FINGER PROTEIN 119; ZNF119", "OMIM:603999": "ZINC FINGER PROTEIN 120; ZNF120", "OMIM:604000": "ZINC FINGER PROTEIN 122; ZNF122", "OMIM:604001": "A-KINASE ANCHOR PROTEIN 9; AKAP9", "OMIM:604002": "RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 2; ROCK2", "OMIM:604003": "CHLORIDE CHANNEL ACCESSORY 2; CLCA2", "OMIM:604006": "REMOVED FROM DATABASE", "OMIM:604007": "REMOVED FROM DATABASE", "OMIM:604008": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-2; PTPRZ2", "OMIM:604009": "BAI1-ASSOCIATED PROTEIN 3; BAIAP3", "OMIM:604010": "PARANEOPLASTIC MA ANTIGEN 1; PNMA1", "OMIM:604011": "UNC119 LIPID-BINDING CHAPERONE; UNC119", "OMIM:604012": "RNA, U20 SMALL NUCLEOLAR; RNU20", "OMIM:604013": "UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 2; B4GALT2", "OMIM:604014": "UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 3; B4GALT3", "OMIM:604015": "UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 4; B4GALT4", "OMIM:604016": "UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 5; B4GALT5", "OMIM:604017": "UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 6; B4GALT6", "OMIM:604018": "NUMB-LIKE ENDOCYTIC ADAPTOR PROTEIN; NUMBL", "OMIM:604019": "ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN WITH FG REPEATS 2; AGFG2", "OMIM:604020": "BASSOON PRESYNAPTIC CYTOMATRIX PROTEIN; BSN", "OMIM:604024": "SOLUTE CARRIER FAMILY 5 (SODIUM-DEPENDENT VITAMIN TRANSPORTER), MEMBER 6; SLC5A6", "OMIM:604025": "AXIS INHIBITOR 2; AXIN2", "OMIM:604026": "GOLGI SNAP RECEPTOR COMPLEX MEMBER 1; GOSR1", "OMIM:604027": "GOLGI SNAP RECEPTOR COMPLEX MEMBER 2; GOSR2", "OMIM:604028": "SEC22 HOMOLOG C, VESICLE TRAFFICKING PROTEIN; SEC22C", "OMIM:604029": "SEC22 HOMOLOG B, VESICLE TRAFFICKING PROTEIN; SEC22B", "OMIM:604030": "PROTEASOME SUBUNIT, BETA-TYPE, 7; PSMB7", "OMIM:604031": "STEAROYL-CoA DESATURASE; SCD", "OMIM:604032": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3", "OMIM:604033": "ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1", "OMIM:604034": "ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 2; ERN2", "OMIM:604035": "CYLICIN 2; CYLC2", "OMIM:604036": "CYCLIN A1; CCNA1", "OMIM:604037": "RAS-ASSOCIATED PROTEIN RAB5C; RAB5C", "OMIM:604038": "HYALURONOGLUCOSAMINIDASE 3; HYAL3", "OMIM:604039": "O-GlcNAcase; OGA", "OMIM:604040": "RAD50 DOUBLE-STRAND BREAK REPAIR PROTEIN; RAD50", "OMIM:604041": "MANNOSE-P-DOLICHOL UTILIZATION DEFECT 1; MPDU1", "OMIM:604042": "INTEGRIN, ALPHA-10; ITGA10", "OMIM:604043": "NIMA-RELATED KINASE 2; NEK2", "OMIM:604044": "NIMA-RELATED KINASE 3; NEK3", "OMIM:604045": "PROTEIN ARGININE METHYLTRANSFERASE 5; PRMT5", "OMIM:604046": "OXIDATIVE STRESS-RESPONSIVE 1; OXSR1", "OMIM:604047": "SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/URATE TRANSPORTER), MEMBER 13; SLC22A13", "OMIM:604048": "SOLUTE CARRIER FAMILY 22, MEMBER 14; SLC22A14", "OMIM:604049": "XYLULOKINASE; XYLB", "OMIM:604050": "DELETED IN LUNG AND ESOPHAGEAL CANCER 1; DLEC1", "OMIM:604051": "ENDO/EXONUCLEASE, ENDOG-LIKE; EXOG", "OMIM:604052": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15", "OMIM:604053": "3-PRIME(2-PRIME),5-PRIME-BISPHOSPHATE NUCLEOTIDASE 1; BPNT1", "OMIM:604054": "ACETYL-CoA ACYLTRANSFERASE 1; ACAA1", "OMIM:604055": "ISOPENTENYL-DIPHOSPHATE DELTA ISOMERASE 1; IDI1", "OMIM:604056": "HEPARAN SULFATE-GLUCOSAMINE 3-SULFOTRANSFERASE 2; HS3ST2", "OMIM:604057": "HEPARAN SULFATE-GLUCOSAMINE 3-SULFOTRANSFERASE 3A1; HS3ST3A1", "OMIM:604058": "HEPARAN SULFATE-GLUCOSAMINE 3-SULFOTRANSFERASE 3B1; HS3ST3B1", "OMIM:604059": "HEPARAN SULFATE-GLUCOSAMINE 3-SULFOTRANSFERASE 4; HS3ST4", "OMIM:604061": "SEPTIN 9; SEPTIN9", "OMIM:604062": "MEDIATOR COMPLEX SUBUNIT 16; MED16", "OMIM:604063": "INTEGRIN, ALPHA-8; ITGA8", "OMIM:604064": "ACTIVATING TRANSCRIPTION FACTOR 4; ATF4", "OMIM:604065": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1G SUBUNIT; CACNA1G", "OMIM:604066": "UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 5; B3GALT5", "OMIM:604067": "REGULATOR OF G PROTEIN SIGNALING 9; RGS9", "OMIM:604068": "TUMOR PROTEIN D52; TPD52", "OMIM:604069": "TUMOR PROTEIN D52-LIKE 1; TPD52L1", "OMIM:604070": "DIACYLGLYCEROL KINASE, BETA, 90-KD; DGKB", "OMIM:604071": "DIACYLGLYCEROL KINASE, ETA, 130-KD; DGKH", "OMIM:604072": "DIACYLGLYCEROL KINASE, IOTA, 130-KD; DGKI", "OMIM:604073": "ZINC FINGER PROTEIN 131; ZNF131", "OMIM:604074": "ZINC FINGER PROTEIN 132; ZNF132", "OMIM:604075": "ZINC FINGER PROTEIN 133; ZNF133", "OMIM:604076": "ZINC FINGER PROTEIN 134; ZNF134", "OMIM:604077": "ZINC FINGER PROTEIN 135; ZNF135", "OMIM:604078": "ZINC FINGER PROTEIN 136; ZNF136", "OMIM:604079": "ZINC FINGER PROTEIN 137; ZNF137", "OMIM:604080": "ZINC FINGER PROTEIN 138; ZNF138", "OMIM:604082": "ZINC FINGER PROTEIN 140; ZNF140", "OMIM:604083": "ZINC FINGER PROTEIN 142; ZNF142", "OMIM:604084": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 17; ZBTB17", "OMIM:604085": "ZINC FINGER PROTEIN 154; ZNF154", "OMIM:604086": "ZINC FINGER PROTEIN 155; ZNF155", "OMIM:604087": "CYTOCHROME P450, FAMILY 46, SUBFAMILY A, POLYPEPTIDE 1; CYP46A1", "OMIM:604088": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 17; PPP1R17", "OMIM:604089": "HEMATOPOIETIC CELL SIGNAL TRANSDUCER; HCST", "OMIM:604090": "DISCS LARGE MAGUK SCAFFOLD PROTEIN 5; DLG5", "OMIM:604092": "TTK PROTEIN KINASE; TTK", "OMIM:604094": "MITOTIC ARREST-DEFICIENT 2 LIKE 2; MAD2L2", "OMIM:604095": "ECTODYSPLASIN A RECEPTOR; EDAR", "OMIM:604096": "GLUTAMATE RECEPTOR, METABOTROPIC, 6; GRM6", "OMIM:604097": "UROTENSIN II; UTS2", "OMIM:604098": "SGT1 HOMOLOG, MIS12 KINETOCHORE COMPLEX ASSEMBLY COCHAPERONE; SUGT1", "OMIM:604099": "GLUTAMATE RECEPTOR, METABOTROPIC, 2; GRM2", "OMIM:604100": "GLUTAMATE RECEPTOR, METABOTROPIC, 4; GRM4", "OMIM:604101": "GLUTAMATE RECEPTOR, METABOTROPIC, 7; GRM7", "OMIM:604102": "GLUTAMATE RECEPTOR, METABOTROPIC, 5; GRM5", "OMIM:604103": "MYOTILIN; MYOT", "OMIM:604104": "GLIA MATURATION FACTOR, GAMMA; GMFG", "OMIM:604105": "SYNAPTONEMAL COMPLEX PROTEIN 2; SYCP2", "OMIM:604106": "G PROTEIN-COUPLED RECEPTOR 52; GPR52", "OMIM:604107": "G PROTEIN-COUPLED RECEPTOR 55; GPR55", "OMIM:604108": "MICROTUBULE-ASSOCIATED PROTEIN 7; MAP7", "OMIM:604109": "HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 1; HHLA1", "OMIM:604110": "ADHESION G PROTEIN-COUPLED RECEPTOR G1; ADGRG1", "OMIM:604111": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 3; KCNAB3", "OMIM:604112": "SCIELLIN; SCEL", "OMIM:604113": "INTERLEUKIN 18-BINDING PROTEIN; IL18BP", "OMIM:604114": "PHOSPHOLIPASE C, BETA-2; PLCB2", "OMIM:604115": "KCNQ1-OPPOSITE STRAND/ANTISENSE TRANSCRIPT 1; KCNQ1OT1", "OMIM:604118": "RAS PROTEIN ACTIVATOR-LIKE 1; RASAL1", "OMIM:604119": "SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 4; SLC12A4", "OMIM:604122": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS B PROTEIN; PIGB", "OMIM:604123": "RIBONUCLEASE H1; RNASEH1", "OMIM:604124": "RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8", "OMIM:604125": "SULFOTRANSFERASE FAMILY 2B, MEMBER 1; SULT2B1", "OMIM:604126": "SUPERVILLIN; SVIL", "OMIM:604127": "T-BOX TRANSCRIPTION FACTOR 15; TBX15", "OMIM:604128": "TRANSCRIPTION ELONGATION FACTOR A, 3; TCEA3", "OMIM:604130": "UNDIFFERENTIATED EMBRYONIC CELL TRANSCRIPTION FACTOR 1; UTF1", "OMIM:604134": "A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 13; ADAMTS13", "OMIM:604135": "NUCLEAR FACTOR ERYTHROID 2-LIKE 3; NFE2L3", "OMIM:604136": "INTERLEUKIN 24; IL24", "OMIM:604138": "G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER A; GPRC5A", "OMIM:604139": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 2; DNAJB2", "OMIM:604140": "DEATH INDUCER-OBLITERATOR 1; DIDO1", "OMIM:604141": "ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARFGEF1", "OMIM:604142": "TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP", "OMIM:604143": "EXTRA SPINDLE POLES-LIKE 1; ESPL1", "OMIM:604144": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 9; SLC7A9", "OMIM:604146": "SYNAPTOTAGMIN 7; SYT7", "OMIM:604147": "PTTG1 REGULATOR OF SISTER CHROMATID SEPARATION, SECURIN; PTTG1", "OMIM:604148": "SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 2; SLC13A2", "OMIM:604149": "SARCOGLYCAN, EPSILON; SGCE", "OMIM:604150": "POLYMERASE II, RNA, SUBUNIT J; POLR2J", "OMIM:604151": "UBIQUITIN-CONJUGATING ENZYME E2 E3; UBE2E3", "OMIM:604152": "ORNITHINE DECARBOXYLASE ANTIZYME 2; OAZ2", "OMIM:604153": "NEUROMEDIN U RECEPTOR 1; NMUR1", "OMIM:604154": "ALZHEIMER DISEASE 15; AD15", "OMIM:604155": "LanC-LIKE 1; LANCL1", "OMIM:604156": "SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1", "OMIM:604157": "SECRETED FRIZZLED-RELATED PROTEIN 2; SFRP2", "OMIM:604158": "SECRETED FRIZZLED-RELATED PROTEIN 5; SFRP5", "OMIM:604159": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 5; SLC6A5", "OMIM:604160": "INTEGRIN, BETA-8; ITGB8", "OMIM:604161": "KISS1 RECEPTOR; KISS1R", "OMIM:604163": "RIBOSOMAL PROTEIN L3; RPL3", "OMIM:604164": "ONE CUT HOMEOBOX 1; ONECUT1", "OMIM:604165": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, OXOGLUTARATE CARRIER), MEMBER 11; SLC25A11", "OMIM:604166": "RIBOSOMAL PROTEIN L7; RPL7", "OMIM:604167": "CCCTC-BINDING FACTOR; CTCF", "OMIM:604170": "PHOSPHOLIPID SCRAMBLASE 1; PLSCR1", "OMIM:604171": "ALY/REF EXPORT FACTOR; ALYREF", "OMIM:604172": "CARONTE", "OMIM:604174": "RIBOSOMAL PROTEIN L15; RPL15", "OMIM:604175": "RIBOSOMAL PROTEIN L11; RPL11", "OMIM:604176": "SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3", "OMIM:604177": "RIBOSOMAL PROTEIN L8; RPL8", "OMIM:604178": "RIBOSOMAL PROTEIN L18A; RPL18A", "OMIM:604179": "RIBOSOMAL PROTEIN L18; RPL18", "OMIM:604180": "RIBOSOMAL PROTEIN L24; RPL24", "OMIM:604181": "RIBOSOMAL PROTEIN L37; RPL37", "OMIM:604182": "RIBOSOMAL PROTEIN L38; RPL38", "OMIM:604183": "CHOLESTEATOMA, CONGENITAL", "OMIM:604184": "PUTATIVE NEURONAL CELL ADHESION MOLECULE; PUNC", "OMIM:604186": "CHEMOKINE, CXC MOTIF, LIGAND 14; CXCL14", "OMIM:604188": "SELENIUM-BINDING PROTEIN 1; SELENBP1", "OMIM:604189": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 4; DNAJC4", "OMIM:604190": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4", "OMIM:604191": "ZINC FINGER PROTEIN 263; ZNF263", "OMIM:604193": "SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 3; SLC27A3", "OMIM:604194": "SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4", "OMIM:604196": "SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 6; SLC27A6", "OMIM:604197": "5,10-METHENYLTETRAHYDROFOLATE SYNTHETASE; MTHFS", "OMIM:604198": "RAS-ASSOCIATED PROTEIN RAB11B; RAB11B", "OMIM:604199": "RAS-ASSOCIATED PROTEIN RAB35; RAB35", "OMIM:604200": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 5; SIGLEC5", "OMIM:604201": "HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION", "OMIM:604202": "SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29", "OMIM:604203": "SYNTAXIN 8; STX8", "OMIM:604204": "SYNTAXIN 17; STX17", "OMIM:604205": "COPINE I; CPNE1", "OMIM:604206": "COPINE II; CPNE2", "OMIM:604207": "COPINE III; CPNE3", "OMIM:604208": "COPINE IV; CPNE4", "OMIM:604209": "COPINE V; CPNE5", "OMIM:604210": "CRUMBS CELL POLARITY COMPLEX COMPONENT 1; CRB1", "OMIM:604211": "HIRSCHSPRUNG DISEASE WITH HEART DEFECTS, LARYNGEAL ANOMALIES, AND PREAXIAL POLYDACTYLY", "OMIM:604212": "POLYADENYLATE-SPECIFIC RIBONUCLEASE; PARN", "OMIM:604214": "KRIT1 ANKYRIN REPEAT-CONTAINING PROTEIN 1; KRIT1", "OMIM:604215": "INHIBITOR OF GROWTH 2; ING2", "OMIM:604216": "SOLUTE CARRIER FAMILY 17, MEMBER 4; SLC17A4", "OMIM:604217": "SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 2; SLC34A2", "OMIM:604220": "ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1A; ARPC1A", "OMIM:604221": "ACTIN-RELATED PROTEIN 2; ACTR2", "OMIM:604222": "ACTIN-RELATED PROTEIN 3; ACTR3", "OMIM:604223": "ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1B; ARPC1B", "OMIM:604224": "ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 2; ARPC2", "OMIM:604225": "ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 3; ARPC3", "OMIM:604226": "ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 4; ARPC4", "OMIM:604227": "ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 5; ARPC5", "OMIM:604230": "ADENOSINE DEAMINASE, tRNA-SPECIFIC, 1; ADAT1", "OMIM:604231": "PITUITARY TUMOR-TRANSFORMING GENE 2; PTTG2", "OMIM:604234": "INTEGRIN, BETA-LIKE 1; ITGBL1", "OMIM:604235": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 8; SLC7A8", "OMIM:604237": "CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1", "OMIM:604238": "SNAIL FAMILY TRANSCRIPTIONAL REPRESSOR 1; SNAI1", "OMIM:604239": "PHOSPHOSERINE PHOSPHATASE-LIKE; PSPHL", "OMIM:604240": "T-CELL LEUKEMIA, HOMEOBOX 2; TLX2", "OMIM:604241": "CD2-ASSOCIATED PROTEIN; CD2AP", "OMIM:604242": "RING FINGER PROTEIN 6; RNF6", "OMIM:604249": "RETICULON 3; RTN3", "OMIM:604251": "CALCINEURIN-BINDING PROTEIN 1", "OMIM:604252": "BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1", "OMIM:604253": "CASEIN KINASE I, GAMMA-3; CSNK1G3", "OMIM:604254": "DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3", "OMIM:604255": "LADYBIRD HOMEOBOX 1; LBX1", "OMIM:604256": "BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E40; BHLHE40", "OMIM:604257": "CAMERA-MARUGO-COHEN SYNDROME", "OMIM:604258": "DLC1 RHO GTPase ACTIVATING PROTEIN; DLC1", "OMIM:604259": "PLEXIN C1; PLXNC1", "OMIM:604260": "SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B", "OMIM:604261": "AUTOPHAGY-RELATED 5; ATG5", "OMIM:604262": "AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 3; APBA3", "OMIM:604263": "PRION-LIKE PROTEIN DOPPEL; PRND", "OMIM:604264": "CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3", "OMIM:604265": "CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 2; CELSR2", "OMIM:604266": "MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 6; MEGF6", "OMIM:604267": "MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 8; MEGF8", "OMIM:604268": "MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 9; MEGF9", "OMIM:604269": "FAT ATYPICAL CADHERIN 2; FAT2", "OMIM:604270": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 4; LRP4", "OMIM:604272": "SCO CYTOCHROME c OXIDASE ASSEMBLY PROTEIN 2; SCO2", "OMIM:604274": "KILLER CELL LECTIN-LIKE RECEPTOR A1, PSEUDOGENE; KLRA1P", "OMIM:604275": "CATENIN, DELTA-2; CTNND2", "OMIM:604276": "PLAKOPHILIN 4; PKP4", "OMIM:604277": "SPASTIN; SPAST", "OMIM:604279": "JUNCTION-MEDIATING AND REGULATORY PROTEIN; JMY", "OMIM:604280": "PLEXIN A4; PLXNA4", "OMIM:604281": "DBF4 ZINC FINGER; DBF4", "OMIM:604282": "PLEXIN D1; PLXND1", "OMIM:604283": "PROTEOGLYCAN 4; PRG4", "OMIM:604285": "ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT", "OMIM:604287": "CARNEY TRIAD", "OMIM:604288": "CARDIOMYOPATHY, DILATED, 1H; CMD1H", "OMIM:604289": "RAD54 HOMOLOG B; RAD54B", "OMIM:604291": "ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO", "OMIM:604293": "PLEXIN B2; PLXNB2", "OMIM:604294": "VENTRAL ANTERIOR HOMEOBOX 1; VAX1", "OMIM:604295": "VENTRAL ANTERIOR HOMEOBOX 2; VAX2", "OMIM:604296": "GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR", "OMIM:604297": "SYNAPTOJANIN 1; SYNJ1", "OMIM:604298": "SIGNAL TRANSDUCING ADAPTOR FAMILY MEMBER 1; STAP1", "OMIM:604299": "ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE ZIPPER-CONTAINING PROTEIN 1; APPL1", "OMIM:604300": "2-HYDROXYACYL-CoA LYASE 1; HACL1", "OMIM:604301": "OCULOMEDIN; OCLM", "OMIM:604302": "RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE", "OMIM:604303": "ACTIN-LIKE 7A; ACTL7A", "OMIM:604304": "ACTIN-LIKE 7B; ACTL7B", "OMIM:604305": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1", "OMIM:604306": "FAS APOPTOTIC INHIBITORY MOLECULE 2; FAIM2", "OMIM:604309": "SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 4; SLC13A4", "OMIM:604310": "BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 6; BLOC1S6", "OMIM:604311": "MEDIATOR COMPLEX SUBUNIT 1; MED1", "OMIM:604312": "CYSTATIN 3; CST3", "OMIM:604313": "GALACTOKINASE 1; GALK1", "OMIM:604315": "ANEMIA, CONGENITAL HYPOPLASTIC, WITH MULTIPLE CONGENITAL ANOMALIES/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME", "OMIM:604316": "PSORIASIS 5, SUSCEPTIBILITY TO; PSORS5", "OMIM:604318": "GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1", "OMIM:604319": "TERF1-INTERACTING NUCLEAR FACTOR 2; TINF2", "OMIM:604322": "SOLUTE CARRIER FAMILY 17 (ACIDIC SUGAR TRANSPORTER), MEMBER 5; SLC17A5", "OMIM:604323": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 3; ABCC3", "OMIM:604324": "ACNE, ADULT", "OMIM:604325": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B", "OMIM:604327": "BETA-1,4-GALACTOSYLTRANSFERASE 7; B4GALT7", "OMIM:604328": "STRUCTURE-SPECIFIC RECOGNITION PROTEIN 1; SSRP1", "OMIM:604329": "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2", "OMIM:604330": "GRB2-RELATED ADAPTOR PROTEIN; GRAP", "OMIM:604331": "INTEGRATOR COMPLEX SUBUNIT 6; INTS6", "OMIM:604332": "CYSTEINE-RICH HYDROPHOBIC DOMAIN PROTEIN 2; CHIC2", "OMIM:604333": "WD40 REPEAT-CONTAINING PROTEIN CIAO1; CIAO1", "OMIM:604334": "UBIQUITIN-SPECIFIC PROTEASE 6; USP6", "OMIM:604335": "REFLEX SYMPATHETIC DYSTROPHY", "OMIM:604336": "TRANSMEMBRANE PHOSPHATASE WITH TENSIN HOMOLOGY; TPTE", "OMIM:604337": "CHLORIDE CHANNEL ACCESSORY 3, PSEUDOGENE; CLCA3P", "OMIM:604338": "REMOVED FROM DATABASE", "OMIM:604339": "REMOVED FROM DATABASE", "OMIM:604340": "REMOVED FROM DATABASE", "OMIM:604341": "REMOVED FROM DATABASE", "OMIM:604342": "REMOVED FROM DATABASE", "OMIM:604343": "REMOVED FROM DATABASE", "OMIM:604344": "MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 1; MAN1A1", "OMIM:604345": "MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 2; MAN1A2", "OMIM:604346": "MANNOSIDASE, ALPHA, CLASS 1B, MEMBER 1; MAN1B1", "OMIM:604347": "ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 2; ZRANB2", "OMIM:604349": "LAMININ, GAMMA-3; LAMC3", "OMIM:604350": "RAS-ASSOCIATED PROTEIN RAB3D; RAB3D", "OMIM:604351": "PHD FINGER PROTEIN 2; PHF2", "OMIM:604353": "CYSTEINE- AND HISTIDINE-RICH DOMAIN-CONTAINING PROTEIN 1; CHORDC1", "OMIM:604354": "NUCLEAR FMRP-INTERACTING PROTEIN 1; NUFIP1", "OMIM:604355": "COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2; COPG2", "OMIM:604357": "MAB21-LIKE 2; MAB21L2", "OMIM:604358": "STROMAL ANTIGEN 1; STAG1", "OMIM:604362": "LIM DOMAIN ONLY 7; LMO7", "OMIM:604363": "MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS", "OMIM:604365": "PROMININ 1; PROM1", "OMIM:604366": "DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1", "OMIM:604368": "GLYCOPROTEIN NMB; GPNMB", "OMIM:604371": "HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 2; HHLA2", "OMIM:604372": "HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 3; HHLA3", "OMIM:604373": "CHECKPOINT KINASE 2; CHEK2", "OMIM:604374": "METALLOTHIONEIN-LIKE 5, TESTIS-SPECIFIC; MTL5", "OMIM:604375": "HUMAN GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HGS", "OMIM:604376": "MYELIN PROTEIN ZERO-LIKE 1; MPZL1", "OMIM:604378": "BECLIN 1; BECN1", "OMIM:604380": "ULNAR RAY DYSGENESIS WITH POSTAXIAL POLYDACTYLY AND RENAL CYSTIC DYSPLASIA", "OMIM:604382": "LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA", "OMIM:604383": "GROWTH FACTOR-INDEPENDENT 1B; GFI1B", "OMIM:604384": "ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1", "OMIM:604385": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 11; SCN11A", "OMIM:604386": "TRANSCRIPTIONAL REPRESSOR, GATA-BINDING 1; TRPS1", "OMIM:604388": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-4; GNG4", "OMIM:604389": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-10; GNG10", "OMIM:604390": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-11; GNG11", "OMIM:604392": "ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1", "OMIM:604394": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-12; GNA12", "OMIM:604395": "DNA MISMATCH REPAIR PROTEIN MLH3; MLH3", "OMIM:604396": "SET DOMAIN PROTEIN, BIFURCATED, 1; SETDB1", "OMIM:604397": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-14; GNA14", "OMIM:604398": "SECRETOGLOBIN, FAMILY 2A, MEMBER 1; SCGB2A1", "OMIM:604399": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1B; PPP1R1B", "OMIM:604402": "ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 5; ST3GAL5", "OMIM:604404": "GLYPICAN 6; GPC6", "OMIM:604405": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6; SIGLEC6", "OMIM:604406": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13", "OMIM:604407": "LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1", "OMIM:604409": "GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 1; GMEB1", "OMIM:604410": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 7; SIGLEC7", "OMIM:604411": "INNER CENTROMERE PROTEIN; INCENP", "OMIM:604412": "T-CELL LEUKEMIA/LYMPHOMA 6; TCL6", "OMIM:604414": "POLYMERASE II, RNA, SUBUNIT F; POLR2F", "OMIM:604415": "STEAP FAMILY MEMBER 1; STEAP1", "OMIM:604417": "ALF TRANSCRIPTION ELONGATION FACTOR 4; AFF4", "OMIM:604418": "GAP JUNCTION PROTEIN, BETA-6; GJB6", "OMIM:604419": "POLYMERASE, DNA, THETA; POLQ", "OMIM:604420": "HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX", "OMIM:604421": "PHOSDUCIN-LIKE; PDCL", "OMIM:604422": "PANCREATIC LIPASE-RELATED PROTEIN 1; PNLIPRP1", "OMIM:604423": "PANCREATIC LIPASE-RELATED PROTEIN 2; PNLIPRP2", "OMIM:604424": "HOMEODOMAIN-INTERACTING PROTEIN KINASE 3; HIPK3", "OMIM:604425": "LIM HOMEOBOX GENE 8; LHX8", "OMIM:604426": "CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 2; CYP4F2", "OMIM:604427": "SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 10; SCN10A", "OMIM:604429": "PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 2; PRRG2", "OMIM:604430": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-7; GNG7", "OMIM:604431": "POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE", "OMIM:604433": "POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3; KCNE3", "OMIM:604434": "KALLIKREIN-RELATED PEPTIDASE 11; KLK11", "OMIM:604436": "PYRIDOXAL PHOSPHATE-BINDING PROTEIN; PLPBP", "OMIM:604437": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 3; SLC38A3", "OMIM:604438": "KALLIKREIN-RELATED PEPTIDASE 7; KLK7", "OMIM:604439": "GRB2-ASSOCIATED BINDING PROTEIN 1; GAB1", "OMIM:604440": "CELL DEATH-INDUCING DFFA-LIKE EFFECTOR A; CIDEA", "OMIM:604441": "CELL DEATH-INDUCING DFFA-LIKE EFFECTOR B; CIDEB", "OMIM:604443": "ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 6; ACSL6", "OMIM:604444": "BMP AND ACTIVIN MEMBRANE-BOUND INHIBITOR; BAMBI", "OMIM:604445": "PROTEASE INHIBITOR 13; PI13", "OMIM:604446": "PHOSPHOTRIESTERASE-RELATED PROTEIN; PTER", "OMIM:604447": "GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5", "OMIM:604448": "CYTOHESIN 1-INTERACTING PROTEIN; CYTIP", "OMIM:604449": "PROTEASOME 26S SUBUNIT, NON-ATPase, 11; PSMD11", "OMIM:604450": "PROTEASOME 26S SUBUNIT, NON-ATPase, 12; PSMD12", "OMIM:604451": "BASAL CELL CARCINOMA, INFUNDIBULOCYSTIC", "OMIM:604452": "PROTEASOME 26S SUBUNIT, NON-ATPase, 5; PSMD5", "OMIM:604453": "NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2; NR5A2", "OMIM:604455": "SARCOSINE DEHYDROGENASE; SARDH", "OMIM:604456": "INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 1; IFITM1", "OMIM:604457": "NUCLEAR BODY PROTEIN SP110; SP110", "OMIM:604459": "INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3", "OMIM:604460": "FAS-ASSOCIATED FACTOR 1; FAF1", "OMIM:604461": "HUMAN PAPILLOMAVIRUS TYPE 6A INTEGRATION SITE 1; HPV6AI1", "OMIM:604462": "SEMAPHORIN 4C; SEMA4C", "OMIM:604463": "CD160 ANTIGEN; CD160", "OMIM:604464": "INTERSECTIN 2; ITSN2", "OMIM:604465": "SH3 DOMAIN, GRB2-LIKE, 2; SH3GL2", "OMIM:604466": "METHYLTRANSFERASE 1, tRNA METHYLGUANOSINE; METTL1", "OMIM:604467": "MONOCYTE-TO-MACROPHAGE DIFFERENTIATION-ASSOCIATED PROTEIN; MMD", "OMIM:604468": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 6; MAP3K6", "OMIM:604469": "EXOCYST COMPLEX COMPONENT 5; EXOC5", "OMIM:604470": "CD2 ANTIGEN-BINDING PROTEIN 2; CD2BP2", "OMIM:604471": "SOLUTE CARRIER FAMILY 1 (GLUTAMATE TRANSPORTER), MEMBER 7; SLC1A7", "OMIM:604472": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13", "OMIM:604473": "GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1", "OMIM:604474": "HUMAN HERPESVIRUS TYPE 6, INTEGRATED", "OMIM:604475": "RETICULON 4; RTN4", "OMIM:604477": "CHROMOBOX 3; CBX3", "OMIM:604478": "CHROMOBOX 5; CBX5", "OMIM:604479": "SIRTUIN 1; SIRT1", "OMIM:604480": "SIRTUIN 2; SIRT2", "OMIM:604481": "SIRTUIN 3; SIRT3", "OMIM:604482": "SIRTUIN 4; SIRT4", "OMIM:604483": "SIRTUIN 5; SIRT5", "OMIM:604485": "NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3", "OMIM:604486": "PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, MITOCHONDRIAL; PPIF", "OMIM:604487": "OTOGELIN; OTOG", "OMIM:604488": "TITIN-CAP; TCAP", "OMIM:604489": "ALPHA-METHYLACYL-CoA RACEMASE; AMACR", "OMIM:604490": "SACSIN; SACS", "OMIM:604491": "CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE B; CBLB", "OMIM:604492": "VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1", "OMIM:604493": "GAP JUNCTION PROTEIN, BETA-5; GJB5", "OMIM:604494": "INTERLEUKIN 18 RECEPTOR 1; IL18R1", "OMIM:604495": "NUCLEAR FACTOR KAPPA-B INHIBITOR, BETA; NFKBIB", "OMIM:604496": "NFKB INHIBITOR-INTERACTING RAS-LIKE PROTEIN 1; NKIRAS1", "OMIM:604497": "NFKB INHIBITOR-INTERACTING RAS-LIKE PROTEIN 2; NKIRAS2", "OMIM:604499": "HYPERLIPIDEMIA, FAMILIAL COMBINED, 2; FCHL2", "OMIM:604500": "ZINC FINGER HIT DOMAIN-CONTAINING PROTEIN 3; ZNHIT3", "OMIM:604501": "THYROID HORMONE RECEPTOR INTERACTOR 4; TRIP4", "OMIM:604502": "HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 3; HMGN3", "OMIM:604503": "JUMONJI DOMAIN-CONTAINING PROTEIN 1C; JMJD1C", "OMIM:604504": "THYROID HORMONE RECEPTOR INTERACTOR 10; TRIP10", "OMIM:604505": "THYROID HORMONE RECEPTOR INTERACTOR 11; TRIP11", "OMIM:604506": "THYROID HORMONE RECEPTOR INTERACTOR 12; TRIP12", "OMIM:604507": "THYROID HORMONE RECEPTOR INTERACTOR 13; TRIP13", "OMIM:604508": "COP9 SIGNALOSOME, SUBUNIT 2; COPS2", "OMIM:604509": "INTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP", "OMIM:604510": "HYALURONOGLUCOSAMINIDASE 4; HYAL4", "OMIM:604511": "CHROMOBOX 1; CBX1", "OMIM:604512": "INTERLEUKIN 1 RECEPTOR-LIKE 2; IL1RL2", "OMIM:604513": "CD84 ANTIGEN; CD84", "OMIM:604514": "SH2 DOMAIN PROTEIN 2A; SH2D2A", "OMIM:604515": "B-CELL LINKER PROTEIN; BLNK", "OMIM:604516": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 2; IGSF2", "OMIM:604517": "PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA; PPARGC1A", "OMIM:604518": "GRB2-RELATED ADAPTOR PROTEIN 2; GRAP2", "OMIM:604520": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14", "OMIM:604521": "3-HYDROXYANTHRANILATE 3,4-DIOXYGENASE; HAAO", "OMIM:604522": "DEFENSIN, ALPHA, 3; DEFA3", "OMIM:604523": "CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 1; CELSR1", "OMIM:604524": "LYMPHOCYTE ANTIGEN 75; LY75", "OMIM:604525": "HISTAMINE RECEPTOR H3; HRH3", "OMIM:604526": "ISOCITRATE DEHYDROGENASE, NAD(+), 3, NONCATALYTIC SUBUNIT BETA; IDH3B", "OMIM:604527": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 3; KCNH3", "OMIM:604528": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 4; KCNH4", "OMIM:604529": "ORTHOPEDIA HOMEOBOX; OTP", "OMIM:604530": "NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 1; NCR1", "OMIM:604531": "NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 2; NCR2", "OMIM:604532": "POLYCYSTIN 2-LIKE 1; PKD2L1", "OMIM:604533": "INTERFERON-STIMULATED EXONUCLEASE GENE 20; ISG20", "OMIM:604534": "CD83 ANTIGEN; CD83", "OMIM:604535": "KINESIN FAMILY MEMBER C3; KIFC3", "OMIM:604538": "KINESIN FAMILY MEMBER 2C; KIF2C", "OMIM:604539": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 2; ADAMTS2", "OMIM:604540": "KERATIN 36, TYPE I; KRT36", "OMIM:604541": "KERATIN 37, TYPE I; KRT37", "OMIM:604542": "KERATIN 38, TYPE I; KRT38", "OMIM:604543": "LIM DOMAIN-CONTAINING PROTEIN 1; LIMD1", "OMIM:604544": "LEUCYL-tRNA SYNTHETASE 2; LARS2", "OMIM:604545": "KARYOPHERIN ALPHA-5; KPNA5", "OMIM:604546": "TONSOKU-LIKE DNA REPAIR PROTEIN; TONSL", "OMIM:604547": "VAN DER WOUDE SYNDROME 1, MODIFIER OF", "OMIM:604548": "NUCLEAR FACTOR KAPPA-B INHIBITOR, EPSILON; NFKBIE", "OMIM:604550": "DENSITY-REGULATED PROTEIN; DENR", "OMIM:604551": "CHOLESTEROL 25-HYDROXYLASE; CH25H", "OMIM:604552": "HEPATOCYTE GROWTH FACTOR ACTIVATOR; HGFAC", "OMIM:604553": "HEAT-SHOCK FACTOR-BINDING PROTEIN 1; HSBP1", "OMIM:604554": "HEAT-SHOCK TRANSCRIPTION FACTOR 2-BINDING PROTEIN; HSF2BP", "OMIM:604555": "CADHERIN 10; CDH10", "OMIM:604556": "DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1B; DYRK1B", "OMIM:604557": "ZINC FINGER PROTEIN 423; ZNF423", "OMIM:604558": "INDUCIBLE T-CELL COSTIMULATOR; ICOS", "OMIM:604561": "ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B; MGAT4B", "OMIM:604562": "APOPTOTIC CHROMATIN CONDENSATION INDUCER 1; ACIN1", "OMIM:604564": "GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 3; MGST3", "OMIM:604565": "ALG5 DOLICHYL-PHOSPHATE BETA-GLUCOSYLTRANSFERASE; ALG5", "OMIM:604566": "ALG6 ALPHA-1,3-GLUCOSYLTRANSFERASE; ALG6", "OMIM:604567": "DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, ALPHA; DOC2A", "OMIM:604568": "DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, BETA; DOC2B", "OMIM:604569": "CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2", "OMIM:604570": "SHROOM FAMILY MEMBER 3; SHROOM3", "OMIM:604572": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 1; DNAJB1", "OMIM:604573": "ATP SYNTHASE MEMBRANE SUBUNIT 6.8PL; ATP5MPL", "OMIM:604574": "FERRIC CHELATE REDUCTASE 1-LIKE; FRRS1L", "OMIM:604575": "ZINC FINGER HIT DOMAIN-CONTAINING PROTEIN 2; ZNHIT2", "OMIM:604576": "ERGOSTEROL BIOSYNTHESIS 28 HOMOLOG; ERG28", "OMIM:604577": "BLOOD VESSEL EPICARDIAL SUBSTANCE; BVES", "OMIM:604578": "ABSENT IN MELANOMA 2; AIM2", "OMIM:604579": "FRIZZLED CLASS RECEPTOR 4; FZD4", "OMIM:604580": "FIBULIN 5; FBLN5", "OMIM:604581": "AFG3-LIKE MATRIX AAA PEPTIDASE, SUBUNIT 2; AFG3L2", "OMIM:604582": "PALM2 AND AKAP2 FUSION GENE; PALM2AKAP2", "OMIM:604583": "PROGRAMMED CELL DEATH 5; PDCD5", "OMIM:604584": "PLATELET-DERIVED GROWTH FACTOR RECEPTOR-LIKE; PDGFRL", "OMIM:604585": "NUCLEAR BODY PROTEIN SP100; SP100", "OMIM:604586": "SYNTAXIN-BINDING PROTEIN 5; STXBP5", "OMIM:604587": "CALCIUM BINDING AND COILED-COIL DOMAIN PROTEIN 2; CALCOCO2", "OMIM:604588": "NIMA-RELATED KINASE 1; NEK1", "OMIM:604589": "BROMODOMAIN-CONTAINING PROTEIN 1; BRD1", "OMIM:604590": "Fc FRAGMENT OF IgG RECEPTOR IIb; FCGR2B", "OMIM:604591": "PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 1; PEBP1", "OMIM:604592": "T CELL IMMUNE REGULATOR 1; TCIRG1", "OMIM:604593": "KINESIN FAMILY MEMBER 5C; KIF5C", "OMIM:604594": "CYSTEINE-RICH PDZ DOMAIN-BINDING PROTEIN; CRIPT", "OMIM:604595": "CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1", "OMIM:604596": "F-BOX AND WD REPEAT DOMAIN 10B; FBXW10B", "OMIM:604597": "GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1", "OMIM:604598": "OXIDATIVE STRESS-INDUCED GROWTH INHIBITOR FAMILY MEMBER 2; OSGIN2", "OMIM:604599": "EUCHROMATIC HISTONE-LYSINE N-METHYLTRANSFERASE 2; EHMT2", "OMIM:604600": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5; TRPM5", "OMIM:604601": "TRANSLATIONAL RELEASE FACTOR, MITOCHONDRIAL, 1; MTRF1", "OMIM:604602": "RIBOSOME-RECYCLING FACTOR, MITOCHONDRIAL; MRRF", "OMIM:604603": "MYOFERLIN; MYOF", "OMIM:604604": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 9; SLC30A9", "OMIM:604605": "KALIRIN; KALRN", "OMIM:604606": "ODORANT-BINDING PROTEIN 2B; OBP2B", "OMIM:604607": "HOMEOBOX B13; HOXB13", "OMIM:604609": "MUCIN 12; MUC12", "OMIM:604610": "RECQ PROTEIN-LIKE 3; RECQL3", "OMIM:604611": "RECQ PROTEIN-LIKE 2; RECQL2", "OMIM:604612": "NK2 HOMEOBOX 2; NKX2-2", "OMIM:604613": "T-BOX TRANSCRIPTION FACTOR 18; TBX18", "OMIM:604614": "T-BOX TRANSCRIPTION FACTOR 19; TBX19", "OMIM:604615": "EOMESODERMIN; EOMES", "OMIM:604616": "T-BOX, BRAIN, 1; TBR1", "OMIM:604617": "NEURAMINIDASE 3; NEU3", "OMIM:604618": "NITRILASE 1; NIT1", "OMIM:604619": "LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1", "OMIM:604620": "G PROTEIN-COUPLED RECEPTOR 65; GPR65", "OMIM:604621": "BETA-1,4-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT3", "OMIM:604623": "ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME A; MGAT4A", "OMIM:604624": "HEAT-SHOCK 27-KD PROTEIN 3; HSPB3", "OMIM:604626": "MALIC ENZYME 3; ME3", "OMIM:604627": "INTERLEUKIN 17B; IL17B", "OMIM:604628": "INTERLEUKIN 17C; IL17C", "OMIM:604629": "MATRIX METALLOPROTEINASE 20; MMP20", "OMIM:604630": "NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2", "OMIM:604631": "VESICLE AMINE TRANSPORT PROTEIN 1; VAT1", "OMIM:604632": "VAC14 COMPONENT OF PIKFYVE COMPLEX; VAC14", "OMIM:604633": "EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2", "OMIM:604634": "TRANSGELIN 2; TAGLN2", "OMIM:604635": "NEUREXOPHILIN 2; NXPH2", "OMIM:604636": "NEUREXOPHILIN 3; NXPH3", "OMIM:604637": "NEUREXOPHILIN 4; NXPH4", "OMIM:604638": "ACTININ, ALPHA-4; ACTN4", "OMIM:604639": "NEUREXOPHILIN 1; NXPH1", "OMIM:604640": "T-CELL LEUKEMIA HOMEOBOX 3; TLX3", "OMIM:604641": "MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 1; MAPK8IP1", "OMIM:604642": "CARBONIC ANHYDRASE X; CA10", "OMIM:604643": "NEUROPEPTIDE FF-AMIDE PEPTIDE; NPFF", "OMIM:604644": "CARBONIC ANHYDRASE XI; CA11", "OMIM:604645": "PHOSPHODIESTERASE 7B, cAMP-SPECIFIC, HIGH AFFINITY; PDE7B", "OMIM:604646": "NUCLEOPORIN, 50-KD; NUP50", "OMIM:604647": "CALCYON; CALY", "OMIM:604648": "T-BOX TRANSCRIPTION FACTOR 10; TBX10", "OMIM:604649": "TUBULIN-SPECIFIC CHAPERONE D; TBCD", "OMIM:604650": "INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 3; IFIT3", "OMIM:604651": "GROWTH/DIFFERENTIATION FACTOR 7; GDF7", "OMIM:604652": "TRANSCRIPTION FACTOR 7-LIKE 1; TCF7L1", "OMIM:604653": "SOLUTE CARRIER FAMILY 40 (IRON-REGULATED TRANSPORTER), MEMBER 1; SLC40A1", "OMIM:604654": "5-HYDROXYTRYPTAMINE RECEPTOR 3B; HTR3B", "OMIM:604655": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 14; MAP3K14", "OMIM:604656": "FORMIN-LIKE 1; FMNL1", "OMIM:604657": "TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 5; TM4SF5", "OMIM:604658": "G PROTEIN-COUPLED RECEPTOR 137B; GPR137B", "OMIM:604659": "ENDOGENOUS RETROVIRAL FAMILY W, MEMBER 1; ERVW1", "OMIM:604660": "POTASSIUM CHANNEL-INTERACTING PROTEIN 1; KCNIP1", "OMIM:604661": "POTASSIUM CHANNEL-INTERACTING PROTEIN 2; KCNIP2", "OMIM:604662": "POTASSIUM CHANNEL-INTERACTING PROTEIN 3; KCNIP3", "OMIM:604663": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 6; WNT6", "OMIM:604664": "INTERFERON-GAMMA-INDUCIBLE PROTEIN 30; IFI30", "OMIM:604665": "COP9 SIGNALOSOME, SUBUNIT 3; COPS3", "OMIM:604666": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 4; MAP4K4", "OMIM:604667": "CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION; CADPS", "OMIM:604668": "ZINC FINGER PROTEIN 264; ZNF264", "OMIM:604669": "POLYCYSTIN 2-LIKE 2; PKD2L2", "OMIM:604670": "POLYCYSTIN AND SEA URCHIN REJ HOMOLOG-LIKE; PKDREJ", "OMIM:604671": "JUMPING TRANSLOCATION BREAKPOINT; JTB", "OMIM:604672": "CD209 ANTIGEN; CD209", "OMIM:604673": "INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR ASSOCIATED 1; IRAG1", "OMIM:604674": "HES-RELATED FAMILY bHLH TRANSCRIPTION FACTOR WITH YRPW MOTIF 2; HEY2", "OMIM:604675": "PAIRED-RELATED HOMEOBOX GENE 2; PRRX2", "OMIM:604676": "HLA COMPLEX P5 GENE; HCP5", "OMIM:604677": "CERAMIDE TRANSPORTER 1; CERT1", "OMIM:604678": "TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 2; TM9SF2", "OMIM:604679": "POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 1; PABPC1", "OMIM:604680": "POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 3; PABPC3", "OMIM:604682": "INTEGRIN, ALPHA-E; ITGAE", "OMIM:604683": "KINESIN FAMILY MEMBER 3A; KIF3A", "OMIM:604684": "MLLT11 TRANSCRIPTION FACTOR 7 COFACTOR; MLLT11", "OMIM:604685": "HOMEOBOX A2; HOXA2", "OMIM:604686": "A-KINASE ANCHOR PROTEIN 13; AKAP13", "OMIM:604687": "PROSTAGLANDIN D2 RECEPTOR; PTGDR", "OMIM:604688": "A-KINASE ANCHOR PROTEIN 5; AKAP5", "OMIM:604689": "A-KINASE ANCHOR PROTEIN 3; AKAP3", "OMIM:604690": "GROWTH AND DEVELOPMENTAL RETARDATION, OCULAR PTOSIS, CARDIAC DEFECT, AND ANAL ATRESIA", "OMIM:604691": "A-KINASE ANCHOR PROTEIN 6; AKAP6", "OMIM:604692": "A-KINASE ANCHOR PROTEIN 8; AKAP8", "OMIM:604693": "A-KINASE ANCHOR PROTEIN 7; AKAP7", "OMIM:604694": "A-KINASE ANCHOR PROTEIN 10; AKAP10", "OMIM:604695": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 3; ARL3", "OMIM:604696": "A-KINASE ANCHOR PROTEIN 11; AKAP11", "OMIM:604697": "CHEMOKINE, CC MOTIF, LIGAND 26; CCL26", "OMIM:604698": "A-KINASE ANCHOR PROTEIN 12; AKAP12", "OMIM:604699": "ADP-RIBOSYLATION FACTOR-RELATED PROTEIN 1; ARFRP1", "OMIM:604700": "TARGET OF MYB1 MEMBRANE TRAFFICKING PROTEIN; TOM1", "OMIM:604701": "TARGET OF MYB1-LIKE 1 MEMBRANE TRAFFICKING PROTEIN; TOM1L1", "OMIM:604702": "HMG BOX DOMAIN-CONTAINING 4; HMGXB4", "OMIM:604704": "BREAST CANCER ANTIESTROGEN RESISTANCE 3; BCAR3", "OMIM:604705": "MER TYROSINE KINASE PROTOONCOGENE; MERTK", "OMIM:604707": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER B10; AKR1B10", "OMIM:604708": "NUCLEAR FACTOR OF ACTIVATED T CELLS 5; NFAT5", "OMIM:604709": "T-CELL LYMPHOMA INVASION AND METASTASIS 2; TIAM2", "OMIM:604710": "LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4; LTBP4", "OMIM:604711": "UBIQUITIN-LIKE 3; UBL3", "OMIM:604712": "RIBONUCLEOTIDE REDUCTASE REGULATORY TP53 INDUCIBLE SUBUNIT M2B; RRM2B", "OMIM:604713": "C-TYPE LECTIN DOMAIN FAMILY 11, MEMBER A; CLEC11A", "OMIM:604714": "TSPY-LIKE 1; TSPYL1", "OMIM:604716": "UDP GLUCURONOSYLTRANSFERASE FAMILY 2, MEMBER A1; UGT2A1", "OMIM:604718": "TRANSCRIPTION TERMINATION FACTOR 2; TTF2", "OMIM:604719": "SERINE/THREONINE PROTEIN KINASE 16; STK16", "OMIM:604720": "TRANSFERRIN RECEPTOR 2; TFR2", "OMIM:604721": "SH2 DOMAIN-CONTAINING PROTEIN 3A; SH2D3A", "OMIM:604722": "SH2 DOMAIN-CONTAINING PROTEIN 3C; SH2D3C", "OMIM:604723": "Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TSFM", "OMIM:604724": "HEPARANASE; HPSE", "OMIM:604725": "UBIQUITIN-SPECIFIC PROTEASE 2; USP2", "OMIM:604726": "SERINE/THREONINE PROTEIN KINASE 17A; STK17A", "OMIM:604727": "SERINE/THREONINE PROTEIN KINASE 17B; STK17B", "OMIM:604728": "UBIQUITIN-SPECIFIC PROTEASE 3; USP3", "OMIM:604729": "UBIQUITIN-SPECIFIC PROTEASE 21; USP21", "OMIM:604730": "TUB-LIKE PROTEIN 3; TULP3", "OMIM:604731": "UBIQUITIN-SPECIFIC PROTEASE 15; USP15", "OMIM:604732": "TRANSCRIPTION FACTOR EC; TFEC", "OMIM:604733": "TRYPTOPHANYL-tRNA SYNTHETASE 2; WARS2", "OMIM:604734": "WD REPEAT-CONTAINING PROTEIN 1; WDR1", "OMIM:604735": "UBIQUITIN-SPECIFIC PROTEASE 16; USP16", "OMIM:604736": "UBIQUITIN-SPECIFIC PROTEASE 25; USP25", "OMIM:604737": "WD REPEAT-CONTAINING PROTEIN 3; WDR3", "OMIM:604738": "CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9", "OMIM:604739": "RNA-BINDING MOTIF PROTEIN 39; RBM39", "OMIM:604740": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 1; SLC39A1", "OMIM:604741": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER D1; AKR1D1", "OMIM:604742": "DOUBLECORTIN-LIKE KINASE 1; DCLK1", "OMIM:604743": "DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 1; DDAH1", "OMIM:604744": "DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 2; DDAH2", "OMIM:604745": "TRANSCRIPTION FACTOR-LIKE 5; TCFL5", "OMIM:604746": "TESTIS-ASSOCIATED ACTIN-MODELING KINASE 2; TESK2", "OMIM:604747": "SRY-BOX 14; SOX14", "OMIM:604748": "SRY-BOX 13; SOX13", "OMIM:604749": "ZINC FINGER PROTEIN 235; ZNF235", "OMIM:604750": "ZINC FINGER PROTEIN 234; ZNF234", "OMIM:604751": "ZINC FINGER PROTEIN 266; ZNF266", "OMIM:604752": "ZINC FINGER PROTEIN 267; ZNF267", "OMIM:604753": "ZINC FINGER PROTEIN 268; ZNF268", "OMIM:604754": "ZINC FINGER PROTEIN 271, PSEUDOGENE; ZNF271P", "OMIM:604755": "ZINC FINGER PROTEIN 272; ZNF272", "OMIM:604756": "ZINC FINGER PROTEIN 273; ZNF273", "OMIM:604758": "RELB PROTOONCOGENE, NFKB-SUBUNIT; RELB", "OMIM:604759": "SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3", "OMIM:604760": "ZINC FINGER PROTEIN 236; ZNF236", "OMIM:604761": "ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 5; ZFAND5", "OMIM:604762": "SWITCH-ASSOCIATED PROTEIN 70", "OMIM:604763": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12; ARHGEF12", "OMIM:604764": "ZINC FINGER AND HOMEODOMAIN PROTEIN 1; ZHX1", "OMIM:604766": "NPHS2 STOMATIN FAMILY MEMBER, PODOCIN; NPHS2", "OMIM:604767": "DELETED IN ESOPHAGEAL CANCER 1; DEC1", "OMIM:604768": "ZINC FINGER PROTEIN 254; ZNF254", "OMIM:604769": "PEROXIREDOXIN 3; PRDX3", "OMIM:604770": "ACETYL-CoA ACYLTRANSFERASE 2; ACAA2", "OMIM:604771": "POLYCYSTIC BONE DISEASE", "OMIM:604773": "ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8", "OMIM:604774": "ANGIOPOIETIN-LIKE 3; ANGPTL3", "OMIM:604775": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1; TRPA1", "OMIM:604776": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-5; HLA-DRB5", "OMIM:604778": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 29; ADAM29", "OMIM:604779": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 30; ADAM30", "OMIM:604780": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 5, LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE; ABHD5", "OMIM:604782": "ASH2-LIKE; ASH2L", "OMIM:604783": "CLEFT LIP AND PALATE-ASSOCIATED TRANSMEMBRANE PROTEIN 1; CLPTM1", "OMIM:604784": "TRANSCRIPTION ELONGATION FACTOR A, 2; TCEA2", "OMIM:604785": "CATENIN, ALPHA-LIKE, 1; CTNNAL1", "OMIM:604786": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 4A; ARL4A", "OMIM:604787": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 4C; ARL4C", "OMIM:604788": "RUVB-LIKE AAA ATPase 2; RUVBL2", "OMIM:604789": "INTEGRIN, ALPHA-11; ITGA11", "OMIM:604790": "TASTE RECEPTOR, TYPE 2, MEMBER 14; TAS2R14", "OMIM:604791": "TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10", "OMIM:604792": "TASTE RECEPTOR, TYPE 2, MEMBER 13; TAS2R13", "OMIM:604793": "TASTE RECEPTOR, TYPE 2, MEMBER 7; TAS2R7", "OMIM:604794": "TASTE RECEPTOR, TYPE 2, MEMBER 8; TAS2R8", "OMIM:604795": "TASTE RECEPTOR, TYPE 2, MEMBER 9; TAS2R9", "OMIM:604796": "TASTE RECEPTOR, TYPE 2, MEMBER 1; TAS2R1", "OMIM:604797": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 2; APOBEC2", "OMIM:604798": "HOMER SCAFFOLD PROTEIN 1; HOMER1", "OMIM:604799": "HOMER SCAFFOLD PROTEIN 2; HOMER2", "OMIM:604800": "HOMER SCAFFOLD PROTEIN 3; HOMER3", "OMIM:604803": "DOP1 LEUCINE ZIPPER-LIKE PROTEIN B; DOP1B", "OMIM:604806": "FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 1; FLRT1", "OMIM:604807": "FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 2; FLRT2", "OMIM:604808": "FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 3; FLRT3", "OMIM:604810": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; LILRA1", "OMIM:604811": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; LILRB1", "OMIM:604812": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 2; LILRA2", "OMIM:604813": "CYTOCHROME c OXIDASE COPPER CHAPERONE COX17; COX17", "OMIM:604814": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 5; LILRB5", "OMIM:604815": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 2; LILRB2", "OMIM:604817": "CARBOHYDRATE SULFOTRANSFERASE 5; CHST5", "OMIM:604818": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 3; LILRA3", "OMIM:604819": "POLY-U-BINDING SPLICING FACTOR, 60-KD; PUF60", "OMIM:604820": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 3; LILRB3", "OMIM:604821": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 4; LILRB4", "OMIM:604822": "CALPAIN 11; CAPN11", "OMIM:604823": "BARX HOMEOBOX 2; BARX2", "OMIM:604824": "KLOTHO; KL", "OMIM:604825": "FASCICULATION AND ELONGATION PROTEIN ZETA 1; FEZ1", "OMIM:604826": "FASCICULATION AND ELONGATION PROTEIN ZETA 2; FEZ2", "OMIM:604828": "CHEMOKINE, C MOTIF, LIGAND 2; XCL2", "OMIM:604829": "DOWN SYNDROME CRITICAL REGION GENE 4; DSCR4", "OMIM:604830": "MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE", "OMIM:604831": "EVC CILIARY COMPLEX SUBUNIT 1; EVC", "OMIM:604832": "CARBONIC ANHYDRASE XIV; CA14", "OMIM:604833": "CHEMOKINE, CC MOTIF, LIGAND 27; CCL27", "OMIM:604834": "TANK-BINDING KINASE 1; TBK1", "OMIM:604835": "DUAL-SPECIFICITY PHOSPHATASE 12; DUSP12", "OMIM:604836": "CHEMOKINE, CC MOTIF, RECEPTOR 4; CCR4", "OMIM:604837": "PROSTAGLANDIN D2 RECEPTOR 2; PTGDR2", "OMIM:604838": "G PROTEIN-COUPLED RECEPTOR 45; GPR45", "OMIM:604839": "FK506-BINDING PROTEIN 6; FKBP6", "OMIM:604840": "FK506-BINDING PROTEIN 8; FKBP8", "OMIM:604842": "SOLUTE CARRIER FAMILY 22 (EXTRANEURONAL MONOAMINE TRANSPORTER), MEMBER 3; SLC22A3", "OMIM:604843": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1", "OMIM:604844": "HEPARAN SULFATE 2-O-SULFOTRANSFERASE 1; HS2ST1", "OMIM:604845": "PROSTATE CANCER ANTIGEN 3; PCA3", "OMIM:604846": "HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1", "OMIM:604847": "G PROTEIN-COUPLED RECEPTOR 26; GPR26", "OMIM:604849": "TRACE AMINE-ASSOCIATED RECEPTOR 2; TAAR2", "OMIM:604850": "COP9 SIGNALOSOME, SUBUNIT 5; COPS5", "OMIM:604851": "G-RICH RNA SEQUENCE-BINDING FACTOR 1; GRSF1", "OMIM:604852": "CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11", "OMIM:604853": "MITOCHONDRIAL RIBOSOMAL PROTEIN L28; MRPL28", "OMIM:604854": "INDOLETHYLAMINE N-METHYLTRANSFERASE; INMT", "OMIM:604855": "HYALURONAN METABOLISM, DEFECT IN", "OMIM:604856": "LANGERHANS CELL HISTIOCYTOSIS", "OMIM:604857": "SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54", "OMIM:604858": "SIGNAL RECOGNITION PARTICLE, 68-KD; SRP68", "OMIM:604859": "LIM AND CYSTEINE-RICH DOMAINS 1; LMCD1", "OMIM:604860": "MALT1 PARACASPASE; MALT1", "OMIM:604861": "LARGE TUMOR SUPPRESSOR KINASE 2; LATS2", "OMIM:604862": "CD207 ANTIGEN; CD207", "OMIM:604863": "LECITHIN RETINOL ACYLTRANSFERASE; LRAT", "OMIM:604865": "KRUPPEL-LIKE FACTOR 7; KLF7", "OMIM:604866": "PLAG1-LIKE ZINC FINGER 2; PLAGL2", "OMIM:604867": "TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16", "OMIM:604868": "TASTE RECEPTOR, TYPE 2, MEMBER 3; TAS2R3", "OMIM:604869": "TASTE RECEPTOR, TYPE 2, MEMBER 4; TAS2R4", "OMIM:604870": "MACROPHAGE RECEPTOR WITH COLLAGENOUS STRUCTURE; MARCO", "OMIM:604871": "MATRIX METALLOPROTEINASE 24; MMP24", "OMIM:604872": "PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 7; PCSK7", "OMIM:604873": "MYELIN PROTEIN ZERO-LIKE 2; MPZL2", "OMIM:604874": "KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY G, MEMBER 1; KLRG1", "OMIM:604875": "MYOSIN IXA; MYO9A", "OMIM:604876": "REGULATOR OF CALCINEURIN 2; RCAN2", "OMIM:604877": "MAF bZIP TRANSCRIPTION FACTOR F; MAFF", "OMIM:604878": "SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 6; SLC12A6", "OMIM:604879": "SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 7; SLC12A7", "OMIM:604881": "RABPHILIN 3A-LIKE; RPH3AL", "OMIM:604882": "NEUROGENIN 3; NEUROG3", "OMIM:604883": "GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 2; GTF3C2", "OMIM:604884": "NIMA-RELATED KINASE 6; NEK6", "OMIM:604885": "MYB-BINDING PROTEIN 1A; MYBBP1A", "OMIM:604886": "ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 8; EMC8", "OMIM:604887": "METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2; MTHFD2", "OMIM:604888": "GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 3; GTF3C3", "OMIM:604889": "NEUROBEACHIN; NBEA", "OMIM:604890": "GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 5; GTF3C5", "OMIM:604891": "NCK-ASSOCIATED PROTEIN 1; NCKAP1", "OMIM:604892": "GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 4; GTF3C4", "OMIM:604893": "ANTISENSE IGF2R RNA, NONCODING; AIRN", "OMIM:604894": "ONE CUT HOMEOBOX 2; ONECUT2", "OMIM:604895": "T-BOX TRANSCRIPTION FACTOR 21; TBX21", "OMIM:604896": "MKKS CENTROSOMAL SHUTTLING PROTEIN; MKKS", "OMIM:604897": "PREFOLDIN 1; PFDN1", "OMIM:604898": "PREFOLDIN 4; PFDN4", "OMIM:604899": "PREFOLDIN 5; PFDN5", "OMIM:604900": "DIACYLGLYCEROL O-ACYLTRANSFERASE 1; DGAT1", "OMIM:604902": "BRF1 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR; BRF1", "OMIM:604903": "TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1A; TAF1A", "OMIM:604904": "TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1B; TAF1B", "OMIM:604905": "TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1C; TAF1C", "OMIM:604906": "SCHIZOPHRENIA 9; SCZD9", "OMIM:604907": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B", "OMIM:604908": "PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 1; PPP4R1", "OMIM:604909": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 2; CNOT2", "OMIM:604910": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 3; CNOT3", "OMIM:604911": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 4; CNOT4", "OMIM:604912": "TAF2 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 150-KD; TAF2", "OMIM:604913": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 7; CNOT7", "OMIM:604914": "JUMONJI DOMAIN-CONTAINING PROTEIN 6; JMJD6", "OMIM:604915": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 13; MAP3K13", "OMIM:604917": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 1; CNOT1", "OMIM:604918": "PICCOLO PRESYNAPTIC CYTOMATRIX PROTEIN; PCLO", "OMIM:604921": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 3; MAP4K3", "OMIM:604922": "CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA", "OMIM:604923": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 5; MAP4K5", "OMIM:604924": "PHOSPHORYLATED ADAPTOR FOR RNA EXPORT; PHAX", "OMIM:604925": "RAB ACCEPTOR 1; RABAC1", "OMIM:604927": "C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; CTDP1", "OMIM:604930": "NCK ADAPTOR PROTEIN 2; NCK2", "OMIM:604932": "PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR GAMMA; PKIG", "OMIM:604933": "MutY DNA GLYCOSYLASE; MUTYH", "OMIM:604934": "TUBULIN-SPECIFIC CHAPERONE E; TBCE", "OMIM:604935": "DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 2; DMRT2", "OMIM:604936": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 1; KIR2DL1", "OMIM:604937": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 2; KIR2DL2", "OMIM:604938": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 3; KIR2DL3", "OMIM:604939": "PHOSPHOLIPASE A2 RECEPTOR 1; PLA2R1", "OMIM:604941": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, ALPHA; PPP2R2A", "OMIM:604942": "SYNTAPHILIN; SNPH", "OMIM:604943": "SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5", "OMIM:604944": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, ALPHA; PPP2R3A", "OMIM:604945": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 4; KIR2DL4", "OMIM:604946": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 1; KIR3DL1", "OMIM:604947": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 2; KIR3DL2", "OMIM:604948": "GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE, BETA; GADD45B", "OMIM:604949": "GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE, GAMMA; GADD45G", "OMIM:604950": "PUTATIVE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PHTF1", "OMIM:604951": "6-PHOSPHOGLUCONOLACTONASE; PGLS", "OMIM:604952": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 1; KIR2DS1", "OMIM:604953": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 2; KIR2DS2", "OMIM:604954": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 3; KIR2DS3", "OMIM:604955": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 4; KIR2DS4", "OMIM:604956": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 5; KIR2DS5", "OMIM:604958": "ACTIN-LIKE 6A; ACTL6A", "OMIM:604959": "PHORBOL-12-MYRISTATE-13-ACETATE-INDUCED PROTEIN 1; PMAIP1", "OMIM:604960": "PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 2; PACSIN2", "OMIM:604961": "PHOSPHODIESTERASE 11A; PDE11A", "OMIM:604962": "T-CELL RECEPTOR-ASSOCIATED TRANSMEMBRANE ADAPTOR 1; TRAT1", "OMIM:604963": "PEPTIDOGLYCAN RECOGNITION PROTEIN 1; PGLYRP1", "OMIM:604964": "SHP2-INTERACTING TRANSMEMBRANE ADAPTOR PROTEIN 1; SIT1", "OMIM:604965": "SERINE/THREONINE PROTEIN KINASE 4; STK4", "OMIM:604966": "PROTOCADHERIN-ALPHA GENE CLUSTER; PCDHA@", "OMIM:604967": "PROTOCADHERIN-BETA GENE CLUSTER; PCDHB@", "OMIM:604968": "PROTOCADHERIN-GAMMA GENE CLUSTER; PCDHG@", "OMIM:604969": "SRC KINASE-ASSOCIATED PHOSPHOPROTEIN 1; SKAP1", "OMIM:604970": "AURORA KINASE B; AURKB", "OMIM:604971": "MYOD FAMILY INHIBITOR; MDFI", "OMIM:604972": "ORIGIN RECOGNITION COMPLEX, SUBUNIT 3; ORC3", "OMIM:604973": "FICOLIN 3; FCN3", "OMIM:604974": "SRY-BOX 21; SOX21", "OMIM:604975": "SRY-BOX 5; SOX5", "OMIM:604976": "PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-3; PRKAG3", "OMIM:604977": "SERINE/THREONINE PROTEIN KINASE 19; STK19", "OMIM:604978": "NUDIX HYDROLASE 21; NUDT21", "OMIM:604979": "CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 6; CPSF6", "OMIM:604980": "RAC GTPase-ACTIVATING PROTEIN 1; RACGAP1", "OMIM:604981": "WW DOMAIN-CONTAINING BINDING PROTEIN 4; WBP4", "OMIM:604982": "HPS1 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 1; HPS1", "OMIM:604983": "POLYMERASE, DNA, GAMMA-2; POLG2", "OMIM:604984": "SERINE/THREONINE PROTEIN KINASE 24; STK24", "OMIM:604985": "SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2", "OMIM:604986": "BRCA1-ASSOCIATED PROTEIN; BRAP", "OMIM:604987": "C-TYPE LECTIN DOMAIN FAMILY 5, MEMBER A; CLEC5A", "OMIM:604988": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2B1; SLCO2B1", "OMIM:604989": "SPONDIN 1; SPON1", "OMIM:604990": "SOLUTE CARRIER FAMILY 9, MEMBER 3, REGULATOR 1; SLC9A3R1", "OMIM:604991": "PROSTATE ANDROGEN-REGULATED TRANSCRIPT 1; PART1", "OMIM:604992": "SARCALUMENIN; SRL", "OMIM:604993": "PRE-mRNA-PROCESSING FACTOR 18; PRPF18", "OMIM:604994": "SIX HOMEOBOX 2; SIX2", "OMIM:604995": "SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 7; SLC22A7", "OMIM:604996": "FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 3; FXYD3", "OMIM:604997": "DOCKING PROTEIN 2; DOK2", "OMIM:604998": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I; CAMK1", "OMIM:604999": "SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1; SHANK1", "OMIM:605000": "CORONIN 1A; CORO1A", "OMIM:605001": "ANGIOPOIETIN-LIKE 2; ANGPTL2", "OMIM:605002": "CORONIN 2B; CORO2B", "OMIM:605003": "SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 6; SENP6", "OMIM:605004": "GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B", "OMIM:605005": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 7; GALNT7", "OMIM:605006": "FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS 2; FRAT2", "OMIM:605007": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 5; ADAMTS5", "OMIM:605008": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 6; ADAMTS6", "OMIM:605009": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 7; ADAMTS7", "OMIM:605010": "SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5", "OMIM:605011": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 3; ADAMTS3", "OMIM:605012": "SPT16 HOMOLOG, FACILITATES CHROMATIN REMODELING SUBUNIT; SUPT16H", "OMIM:605014": "SYNTAXIN 11; STX11", "OMIM:605015": "ZINC FINGER PROTEIN 214; ZNF214", "OMIM:605016": "ZINC FINGER PROTEIN 215; ZNF215", "OMIM:605017": "PRE-B-LYMPHOCYTE GENE 3; VPREB3", "OMIM:605018": "CYLD LYSINE-63 DEUBIQUITINASE; CYLD", "OMIM:605020": "VISUAL SYSTEM HOMEOBOX 1; VSX1", "OMIM:605022": "p21 PROTEIN-ACTIVATED KINASE 2; PAK2", "OMIM:605023": "HYDROXYACID OXIDASE 1; HAO1", "OMIM:605024": "SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 8; SLC4A8", "OMIM:605025": "INTEGRIN, ALPHA-3; ITGA3", "OMIM:605026": "DIABETES MELLITUS, CONGENITAL AUTOIMMUNE", "OMIM:605028": "LOW DENSITY LIPOPROTEIN CHOLESTEROL, MILD ELEVATION OF", "OMIM:605029": "KILLER CELL LECTIN-LIKE RECEPTOR F1; KLRF1", "OMIM:605030": "SERINE/THREONINE PROTEIN KINASE 3; STK3", "OMIM:605031": "POLO-LIKE KINASE 4; PLK4", "OMIM:605032": "COMPLEXIN 1; CPLX1", "OMIM:605033": "COMPLEXIN 2; CPLX2", "OMIM:605034": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23; TIMM23", "OMIM:605035": "WASP PROTEIN FAMILY, MEMBER 1; WASF1", "OMIM:605036": "ZINC FINGER PROTEIN 219; ZNF219", "OMIM:605037": "KINESIN FAMILY MEMBER 17; KIF17", "OMIM:605038": "POSTMEIOTIC SEGREGATION INCREASED 2-LIKE 1; PMS2L1", "OMIM:605040": "CLAVICULAR HYPOPLASIA, ZYGOMATIC ARCH HYPOPLASIA, AND MICROGNATHIA", "OMIM:605042": "MEDIATOR COMPLEX SUBUNIT 23; MED23", "OMIM:605043": "MEDIATOR COMPLEX SUBUNIT 26; MED26", "OMIM:605044": "MEDIATOR COMPLEX SUBUNIT 27; MED27", "OMIM:605045": "MEDIATOR COMPLEX SUBUNIT 7; MED7", "OMIM:605046": "UBIQUILIN 1; UBQLN1", "OMIM:605047": "INTERFERON REGULATORY FACTOR 7; IRF7", "OMIM:605048": "INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE, SUBUNIT EPSILON; IKBKE", "OMIM:605049": "TWISTED GASTRULATION BMP MODULATOR 1; TWSG1", "OMIM:605051": "CANNABINOID RECEPTOR 2; CNR2", "OMIM:605052": "TAR RNA-BINDING PROTEIN 1; TARBP1", "OMIM:605053": "TAR RNA-BINDING PROTEIN 2; TARBP2", "OMIM:605054": "SMALL EDRK-RICH FACTOR 2; SERF2", "OMIM:605056": "WASP-LIKE ACTIN NUCLEATION-PROMOTING FACTOR; WASL", "OMIM:605057": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17A; TIMM17A", "OMIM:605058": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 44; TIMM44", "OMIM:605060": "SEDOHEPTULOKINASE; SHPK", "OMIM:605061": "TERF2-INTERACTING PROTEIN; TERF2IP", "OMIM:605062": "TASTE RECEPTOR, TYPE 2, MEMBER 5; TAS2R5", "OMIM:605063": "STRESS-INDUCED PHOSPHOPROTEIN 1; STIP1", "OMIM:605064": "KINESIN FAMILY MEMBER 23; KIF23", "OMIM:605065": "CELL DIVISION CYCLE 37, HSP90 COCHAPERONE; CDC37", "OMIM:605066": "TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, EPSILON ISOFORM; YWHAE", "OMIM:605067": "TRICUSPID ATRESIA", "OMIM:605068": "WASP PROTEIN FAMILY, MEMBER 3; WASF3", "OMIM:605069": "MITOGEN-ACTIVATED PROTEIN KINASE-INTERACTING SERINE/THREONINE KINASE 2; MKNK2", "OMIM:605070": "EARLY ENDOSOME ANTIGEN 1; EEA1", "OMIM:605071": "REGULATOR OF G PROTEIN SIGNALING 19; RGS19", "OMIM:605072": "GIPC PDZ DOMAIN-CONTAINING FAMILY, MEMBER 1; GIPC1", "OMIM:605073": "TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37", "OMIM:605076": "SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 2; SNAPC2", "OMIM:605077": "DNA METHYLTRANSFERASE 1-ASSOCIATED PROTEIN 1; DMAP1", "OMIM:605078": "TAR DNA-BINDING PROTEIN; TARDBP", "OMIM:605079": "SAL-LIKE 3; SALL3", "OMIM:605080": "CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3", "OMIM:605081": "CYTOHESIN 3; CYTH3", "OMIM:605082": "RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1", "OMIM:605083": "FRIZZLED-RELATED PROTEIN; FRZB", "OMIM:605084": "MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 1; MICU1", "OMIM:605085": "TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1; TREM1", "OMIM:605086": "TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2", "OMIM:605087": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS K PROTEIN; PIGK", "OMIM:605088": "MAJOR VAULT PROTEIN; MVP", "OMIM:605089": "MITOCHONDRIAL RIBOSOMAL PROTEIN L40; MRPL40", "OMIM:605090": "RETINOIC ACID RECEPTOR RESPONDER 1; RARRES1", "OMIM:605091": "FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 2; FGD2", "OMIM:605092": "PHOSPHOLIPASE A AND ACYLTRANSFERASE 4; PLAAT4", "OMIM:605093": "SH2B ADAPTOR PROTEIN 3; SH2B3", "OMIM:605094": "STEAP2 METALLOREDUCTASE; STEAP2", "OMIM:605096": "ANOCTAMIN 7; ANO7", "OMIM:605097": "SOLUTE CARRIER FAMILY 45, MEMBER 3; SLC45A3", "OMIM:605100": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1D; PPM1D", "OMIM:605101": "TAK1-BINDING PROTEIN 2; TAB2", "OMIM:605102": "MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2", "OMIM:605103": "NEUROMEDIN U; NMU", "OMIM:605104": "RNA-BINDING FOX1 HOMOLOG 1; RBFOX1", "OMIM:605105": "EARLY RESPONSE TO NEURAL INDUCTION GENE", "OMIM:605106": "LYSOPHOSPHATIDIC ACID RECEPTOR 3; LPAR3", "OMIM:605107": "ENDOTHELIAL DIFFERENTIATION-RELATED FACTOR 1; EDF1", "OMIM:605108": "NEUROMEDIN U RECEPTOR 2; NMUR2", "OMIM:605109": "HECT DOMAIN AND RCC1-LIKE DOMAIN 1; HERC1", "OMIM:605110": "LYSOPHOSPHATIDIC ACID RECEPTOR 2; LPAR2", "OMIM:605111": "SPHINGOSINE-1-PHOSPHATE RECEPTOR 2; S1PR2", "OMIM:605112": "TROPOMODULIN 3; TMOD3", "OMIM:605113": "ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE; AASS", "OMIM:605114": "SPO11 INITIATOR OF MEIOTIC DOUBLE-STRANDED BREAKS; SPO11", "OMIM:605116": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 9; CHRNA9", "OMIM:605117": "SUPPRESSOR OF CYTOKINE SIGNALING 2; SOCS2", "OMIM:605118": "SUPPRESSOR OF CYTOKINE SIGNALING 6; SOCS6", "OMIM:605119": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1G; PPM1G", "OMIM:605120": "GROWTH/DIFFERENTIATION FACTOR 2; GDF2", "OMIM:605121": "RRN3 HOMOLOG, RNA POLYMERASE I TRANSCRIPTION FACTOR; RRN3", "OMIM:605122": "SUV3-LIKE 1; SUPV3L1", "OMIM:605123": "SERINE PEPTIDASE INHIBITOR, KUNITZ-TYPE, 1; SPINT1", "OMIM:605124": "SERINE PEPTIDASE INHIBITOR, KUNITZ-TYPE, 2; SPINT2", "OMIM:605125": "GABA-A RECEPTOR-ASSOCIATED PROTEIN; GABARAP", "OMIM:605126": "FOUR-AND-A-HALF LIM DOMAINS 5; FHL5", "OMIM:605127": "OPTICIN; OPTC", "OMIM:605128": "GUANYLATE CYCLASE ACTIVATOR 1C; GUCA1C", "OMIM:605129": "PROTEASOME ACTIVATOR SUBUNIT 3; PSME3", "OMIM:605131": "WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX", "OMIM:605132": "TLE FAMILY MEMBER 4, TRANSCRIPTIONAL COREPRESSOR; TLE4", "OMIM:605133": "NUCLEAR CAP-BINDING PROTEIN 2; NCBP2", "OMIM:605134": "PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, CYTOPLASMIC, 1; PITPNC1", "OMIM:605138": "ORNITHINE DECARBOXYLASE ANTIZYME 3; OAZ3", "OMIM:605139": "CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 2; CCT2", "OMIM:605140": "CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 7; CCT7", "OMIM:605141": "PRE-B-LYMPHOCYTE GENE 1; VPREB1", "OMIM:605142": "CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 4; CCT4", "OMIM:605143": "ACTIN-RELATED PROTEIN 1A; ACTR1A", "OMIM:605144": "ACTIN-RELATED PROTEIN 1B; ACTR1B", "OMIM:605145": "ANKH INORGANIC PYROPHOSPHATE TRANSPORT REGULATOR; ANKH", "OMIM:605146": "SPHINGOSINE-1-PHOSPHATE RECEPTOR 5; S1PR5", "OMIM:605147": "LEUKOCYTE CELL-DERIVED CHEMOTAXIN 1; LECT1", "OMIM:605148": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 6; GALNT6", "OMIM:605149": "CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13", "OMIM:605152": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 45; CFAP45", "OMIM:605153": "RECEPTOR ACTIVITY-MODIFYING PROTEIN 1; RAMP1", "OMIM:605154": "RECEPTOR ACTIVITY-MODIFYING PROTEIN 2; RAMP2", "OMIM:605155": "RECEPTOR ACTIVITY-MODIFYING PROTEIN 3; RAMP3", "OMIM:605157": "p53-RESPONSIVE GENE 1", "OMIM:605158": "PEROXIDASIN; PXDN", "OMIM:605159": "APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 2; AIFM2", "OMIM:605160": "p53-RESPONSIVE GENE 4", "OMIM:605161": "WAP 4-DISULFIDE CORE DOMAIN 5; WFDC5", "OMIM:605162": "GADD45G-INTERACTING PROTEIN; GADD45GIP1", "OMIM:605163": "CHEMOKINE, CXC MOTIF, RECEPTOR 6; CXCR6", "OMIM:605164": "HISTONE DEACETYLASE 2; HDAC2", "OMIM:605165": "ZINC FINGER PROTEIN 278; ZNF278", "OMIM:605166": "HISTONE DEACETYLASE 3; HDAC3", "OMIM:605167": "B MELANOMA ANTIGEN; BAGE", "OMIM:605168": "FATTY ACID-BINDING PROTEIN 5; FABP5", "OMIM:605169": "E74-LIKE ETS TRANSCRIPTION FACTOR 5; ELF5", "OMIM:605170": "ETOPOSIDE-INDUCED 1.4 mRNA; EI24", "OMIM:605171": "TUMOR PROTEIN p53-INDUCIBLE PROTEIN 3; TP53I3", "OMIM:605172": "PROSTAGLANDIN E SYNTHASE; PTGES", "OMIM:605173": "ECTODERMAL-NEURAL CORTEX 1; ENC1", "OMIM:605174": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 1; ADAMTS1", "OMIM:605175": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 8; ADAMTS8", "OMIM:605176": "HYDROXYACID OXIDASE 2; HAO2", "OMIM:605177": "REMOVED FROM DATABASE", "OMIM:605178": "GROWTH ARREST-SPECIFIC 8; GAS8", "OMIM:605179": "GAS8 ANTISENSE RNA 1, NONCODING; GAS8AS1", "OMIM:605180": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 2; SLC38A2", "OMIM:605181": "TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 3; TM7SF3", "OMIM:605182": "RAS p21 PROTEIN ACTIVATOR 3; RASA3", "OMIM:605183": "CALMODULIN-LIKE 5; CALML5", "OMIM:605184": "POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 1; PAIP1", "OMIM:605185": "DELTA-LIKE CANONICAL NOTCH LIGAND 4; DLL4", "OMIM:605186": "WNT INHIBITORY FACTOR 1; WIF1", "OMIM:605187": "G PROTEIN-COUPLED RECEPTOR 27; GPR27", "OMIM:605188": "G PROTEIN-COUPLED RECEPTOR 85; GPR85", "OMIM:605189": "DICKKOPF WNT SIGNALING PATHWAY INHIBITOR 1; DKK1", "OMIM:605190": "TRANSLOCATION-ASSOCIATING MEMBRANE PROTEIN 1; TRAM1", "OMIM:605191": "BTAF1 RNA POLYMERASE II, B-TFIID TRANSCRIPTION FACTOR-ASSOCIATED, 170-KD; BTAF1", "OMIM:605193": "DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 3; DIRAS3", "OMIM:605194": "CRYPTIC, EGF-CFC FAMILY MEMBER 1; CFC1", "OMIM:605195": "MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 2; MESP2", "OMIM:605196": "COENZYME Q3, METHYLTRANSFERASE; COQ3", "OMIM:605197": "KYNURENINASE; KYNU", "OMIM:605198": "TERMINAL NUCLEOTIDYLTRANSFERASE 4A; TENT4A", "OMIM:605199": "SPLICING FACTOR, PROLINE- AND GLUTAMINE-RICH; SFPQ", "OMIM:605200": "HECT DOMAIN AND RCC1-LIKE DOMAIN 3; HERC3", "OMIM:605201": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 14; HDLCQ14", "OMIM:605202": "N-ACETYLNEURAMINIC ACID PHOSPHATE SYNTHASE; NANS", "OMIM:605204": "TORSIN 1A; TOR1A", "OMIM:605205": "ADENYLATE CYCLASE 10; ADCY10", "OMIM:605206": "HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 4; HCN4", "OMIM:605207": "CYTOCHROME P450, SUBFAMILY XXVIB, POLYPEPTIDE 1; CYP26B1", "OMIM:605208": "SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 7; SLC17A7", "OMIM:605209": "CHECKPOINT PROTEIN WITH FHA AND RING FINGER DOMAINS; CHFR", "OMIM:605210": "DISRUPTED IN SCHIZOPHRENIA 1; DISC1", "OMIM:605211": "BARH-LIKE 1; BARHL1", "OMIM:605212": "BARH-LIKE 2; BARHL2", "OMIM:605213": "3-PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1", "OMIM:605214": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 2; KCNMB2", "OMIM:605215": "SRC KINASE-ASSOCIATED PHOSPHOPROTEIN 2; SKAP2", "OMIM:605216": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4", "OMIM:605217": "SHC TRANSFORMING PROTEIN 2; SHC2", "OMIM:605218": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2", "OMIM:605219": "DIRECT IAP-BINDING PROTEIN WITH LOW pI; DIABLO", "OMIM:605220": "APOLIPOPROTEIN B RECEPTOR; APOBR", "OMIM:605221": "SPLICING FACTOR, SERINE/ARGININE-RICH, 10; SRSF10", "OMIM:605222": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 3; KCNMB3", "OMIM:605223": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 4; KCNMB4", "OMIM:605224": "RHODOPSIN HOMOLOG, RETINAL PIGMENT EPITHELIUM-DERIVED; RRH", "OMIM:605225": "INFLAMMATORY BOWEL DISEASE 7; IBD7", "OMIM:605226": "ARGININE-GLUTAMIC ACID DIPEPTIDE REPEATS; RERE", "OMIM:605227": "REVERSION-INDUCING CYSTEINE-RICH PROTEIN WITH KAZAL MOTIFS; RECK", "OMIM:605228": "COREPRESSOR INTERACTING WITH RBPJ, 1; CIR1", "OMIM:605230": "TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1", "OMIM:605232": "PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1", "OMIM:605233": "DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE", "OMIM:605234": "VOMERONASAL 1 RECEPTOR 1; VN1R1", "OMIM:605235": "NUCLEOLAR PROTEIN 3; NOL3", "OMIM:605236": "CORIN, SERINE PEPTIDASE; CORIN", "OMIM:605237": "XENOTROPIC AND POLYTROPIC RETROVIRUS RECEPTOR; XPR1", "OMIM:605238": "HISTAMINE N-METHYLTRANSFERASE; HNMT", "OMIM:605239": "ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4", "OMIM:605240": "CHEMOKINE, CC MOTIF, LIGAND 28; CCL28", "OMIM:605241": "LYMPHOCYTE ANTIGEN 86; LY86", "OMIM:605242": "USH1 PROTEIN NETWORK COMPONENT HARMONIN; USH1C", "OMIM:605243": "LYMPHOCYTE ANTIGEN 96; LY96", "OMIM:605244": "CARNEY COMPLEX, TYPE 2; CNC2", "OMIM:605245": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 8; SLC2A8", "OMIM:605246": "COMPLEMENT COMPONENT 3a RECEPTOR 1; C3AR1", "OMIM:605247": "p53-INDUCED DEATH DOMAIN PROTEIN 1; PIDD1", "OMIM:605248": "MUCOLIPIN 1; MCOLN1", "OMIM:605250": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 4; ABCC4", "OMIM:605251": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 5; ABCC5", "OMIM:605252": "POLYMERASE, DNA, IOTA; POLI", "OMIM:605254": "NICASTRIN; NCSTN", "OMIM:605255": "ETS VARIANT TRANSCRIPTION FACTOR 7; ETV7", "OMIM:605256": "RAD18 E3 UBIQUITIN PROTEIN LIGASE; RAD18", "OMIM:605257": "ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA", "OMIM:605261": "NADPH OXIDASE 4; NOX4", "OMIM:605262": "NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1", "OMIM:605263": "SHC TRANSFORMING PROTEIN 3; SHC3", "OMIM:605264": "SORBIN AND SH3-DOMAINS CONTAINING PROTEIN 1; SORBS1", "OMIM:605265": "APOPTOSIS AND CASPASE ACTIVATION INHIBITOR; AVEN", "OMIM:605266": "JUNCTOPHILIN 1; JPH1", "OMIM:605267": "JUNCTOPHILIN 2; JPH2", "OMIM:605268": "JUNCTOPHILIN 3; JPH3", "OMIM:605269": "CORONIN 1C; CORO1C", "OMIM:605270": "N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH", "OMIM:605271": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 10; SERPINA10", "OMIM:605272": "NMYC DOWNSTREAM-REGULATED GENE 2; NDRG2", "OMIM:605273": "NMYC DOWNSTREAM-REGULATED GENE 3; NDRG3", "OMIM:605276": "APOPTOSIS-ASSOCIATED TYROSINE KINASE; AATK", "OMIM:605277": "RHO GTPase-ACTIVATING PROTEIN 35; ARHGAP35", "OMIM:605278": "CARBOXYLESTERASE 2; CES2", "OMIM:605279": "CARBOXYLESTERASE 3; CES3", "OMIM:605281": "DEAD-BOX HELICASE 4; DDX4", "OMIM:605283": "MAGE-LIKE 2; MAGEL2", "OMIM:605284": "TSC COMPLEX SUBUNIT 1; TSC1", "OMIM:605286": "CALPAIN 10; CAPN10", "OMIM:605287": "ARGINYL AMINOPEPTIDASE-LIKE 1; RNPEPL1", "OMIM:605290": "OPA1 MITOCHONDRIAL DYNAMIN-LIKE GTPase; OPA1", "OMIM:605292": "5-PRIME-NUCLEOTIDASE, MITOCHONDRIAL; NT5M", "OMIM:605293": "OPTIC ATROPHY 4; OPA4", "OMIM:605294": "CARBOHYDRATE SULFOTRANSFERASE 6; CHST6", "OMIM:605295": "FIDGETIN; FIGN", "OMIM:605296": "PROTEASOME ASSEMBLY CHAPERONE 1; PSMG1", "OMIM:605297": "NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER C/D; NELFCD", "OMIM:605298": "VPS26 ENDOSOMAL PROTEIN-SORTING FACTOR C; VPS26C", "OMIM:605299": "NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6", "OMIM:605300": "SH2B ADAPTOR PROTEIN 2; SH2B2", "OMIM:605301": "TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 1; TACC1", "OMIM:605302": "TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 2; TACC2", "OMIM:605303": "TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 3; TACC3", "OMIM:605304": "NEUROGLOBIN; NGB", "OMIM:605305": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 5A; KIR2DL5A", "OMIM:605306": "C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER A; CLEC4A", "OMIM:605307": "G PROTEIN-COUPLED RECEPTOR 182; GPR182", "OMIM:605308": "ZINC FINGER PROTEIN 346; ZNF346", "OMIM:605310": "COILED-COIL ALPHA-HELICAL ROD PROTEIN 1; CCHCR1", "OMIM:605312": "GROWTH/DIFFERENTIATION FACTOR 15; GDF15", "OMIM:605313": "RNA-BINDING MOTIF PROTEIN 8A; RBM8A", "OMIM:605314": "HISTONE DEACETYLASE 4; HDAC4", "OMIM:605315": "HISTONE DEACETYLASE 5; HDAC5", "OMIM:605317": "FORKHEAD BOX P2; FOXP2", "OMIM:605319": "6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 3; PFKFB3", "OMIM:605320": "6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 4; PFKFB4", "OMIM:605322": "WAP 4-DISULFIDE CORE DOMAIN 1; WFDC1", "OMIM:605323": "C-TERMINAL DOMAIN OF RNA POLYMERASE II POLYPEPTIDE A, SMALL PHOSPHATASE OF, 1; CTDSP1", "OMIM:605324": "AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 2; APPBP2", "OMIM:605325": "CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5", "OMIM:605326": "TAX1-BINDING PROTEIN 1; TAX1BP1", "OMIM:605327": "NUCLEAR FACTOR, INTERLEUKIN 3-REGULATED; NFIL3", "OMIM:605328": "KRUPPEL-LIKE FACTOR 13; KLF13", "OMIM:605330": "INTERLEUKIN 22; IL22", "OMIM:605331": "ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 3; EPB41L3", "OMIM:605332": "KELCH-LIKE 1; KLHL1", "OMIM:605333": "PDS5 COHESIN-ASSOCIATED FACTOR B; PDS5B", "OMIM:605335": "PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 1; PHLDA1", "OMIM:605336": "COMPLEMENT FACTOR H-RELATED 3; CFHR3", "OMIM:605337": "COMPLEMENT FACTOR H-RELATED 4; CFHR4", "OMIM:605338": "INTERNEXIN, ALPHA; INA", "OMIM:605339": "FMR1 AUTOSOMAL HOMOLOG 2; FXR2", "OMIM:605340": "CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 7; CYP3A7", "OMIM:605341": "PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, ALPHA; PILRA", "OMIM:605342": "PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, BETA; PILRB", "OMIM:605343": "FOLLISTATIN-LIKE 3; FSTL3", "OMIM:605344": "NUCLEAR TRANSCRIPTION FACTOR Y, GAMMA; NFYC", "OMIM:605345": "AlkB HOMOLOG 1, HISTONE H2A DIOXYGENASE; ALKBH1", "OMIM:605347": "PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4", "OMIM:605348": "TRANSMEMBRANE PROTEIN 50A; TMEM50A", "OMIM:605349": "NUCLEAR PRELAMIN A RECOGNITION FACTOR; NARF", "OMIM:605350": "INTERLEUKIN 27 RECEPTOR, ALPHA; IL27RA", "OMIM:605351": "FIBRINOGEN-LIKE 2; FGL2", "OMIM:605352": "MALIGNANT FIBROUS HISTIOCYTOMA-AMPLIFIED SEQUENCE 1; MFHAS1", "OMIM:605353": "GHRELIN; GHRL", "OMIM:605354": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 18; CARD18", "OMIM:605356": "TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, GAMMA ISOFORM; YWHAG", "OMIM:605357": "STONIN 1; STON1", "OMIM:605358": "GENERAL TRANSCRIPTION FACTOR IIA, 1-LIKE; GTF2A1L", "OMIM:605359": "PROLINE-RICH PROTEIN 4; PRR4", "OMIM:605360": "COILED-COIL DOMAIN-CONTAINING PROTEIN 85B; CCDC85B", "OMIM:605363": "GLUTAMATE DECARBOXYLASE 1; GAD1", "OMIM:605364": "PSORIASIS 6, SUSCEPTIBILITY TO; PSORS6", "OMIM:605366": "OLFACTOMEDIN 1; OLFM1", "OMIM:605367": "ELAC RIBONUCLEASE Z 2; ELAC2", "OMIM:605368": "BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3-LIKE; BNIP3L", "OMIM:605369": "TRANSMEMBRANE PROTEASE, SERINE 11D; TMPRSS11D", "OMIM:605370": "RHO GTPase-ACTIVATING PROTEIN 26; ARHGAP26", "OMIM:605371": "ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARFGEF2", "OMIM:605372": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A3; HNRNPA3", "OMIM:605374": "MYCN, OPPOSITE STRAND; MYCNOS", "OMIM:605377": "DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK", "OMIM:605378": "ALADIN WD REPEAT NUCLEOPORIN; AAAS", "OMIM:605379": "GIGAXONIN; GAN", "OMIM:605380": "FIBROBLAST GROWTH FACTOR 23; FGF23", "OMIM:605381": "RHESUS BLOOD GROUP, C GLYCOPROTEIN; RHCG", "OMIM:605383": "INTERLEUKIN 21 RECEPTOR; IL21R", "OMIM:605384": "INTERLEUKIN 21; IL21", "OMIM:605385": "PRENYL PROTEIN PROTEASE RCE1; RCE1", "OMIM:605386": "MICRO RNA LET7A1; MIRLET7A1", "OMIM:605390": "LEUPAXIN; LPXN", "OMIM:605391": "MULTIPLE INOSITOL POLYPHOSPHATE PHOSPHATASE 1; MINPP1", "OMIM:605392": "FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER; FGFR1OP", "OMIM:605393": "LYSINE DEMETHYLASE 5B; KDM5B", "OMIM:605394": "BTB AND CNC HOMOLOGY 2; BACH2", "OMIM:605395": "TRANSMEMBRANE p24 TRAFFICKING PROTEIN 1; TMED1", "OMIM:605397": "CD226 ANTIGEN; CD226", "OMIM:605398": "CHEMOKINE, CXC MOTIF, LIGAND 16; CXCL16", "OMIM:605399": "NIDOGEN 2; NID2", "OMIM:605400": "FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS AND IMPAIRED INTELLECTUAL DEVELOPMENT", "OMIM:605401": "IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 2; IQGAP2", "OMIM:605402": "CD274 MOLECULE; CD274", "OMIM:605403": "TOLL-LIKE RECEPTOR 6; TLR6", "OMIM:605404": "BCL2-RELATED OVARIAN KILLER; BOK", "OMIM:605405": "USP6 N-TERMINAL-LIKE; USP6NL", "OMIM:605406": "TRANSMEMBRANE p24 TRAFFICKING PROTEIN 10; TMED10", "OMIM:605409": "TRANSCRIPTION ELONGATION REGULATOR 1; TCERG1", "OMIM:605410": "POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2; KCND2", "OMIM:605411": "POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 3; KCND3", "OMIM:605412": "RAB, MEMBER OF RAS ONCOGENE FAMILY-LIKE 2A; RABL2A", "OMIM:605413": "RAB, MEMBER OF RAS ONCOGENE FAMILY-LIKE 2B; RABL2B", "OMIM:605414": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 7; ABCA7", "OMIM:605415": "DICKKOPF WNT SIGNALING PATHWAY INHIBITOR 2; DKK2", "OMIM:605416": "DICKKOPF WNT SIGNALING PATHWAY INHIBITOR 3; DKK3", "OMIM:605417": "DICKKOPF WNT SIGNALING PATHWAY INHIBITOR 4; DKK4", "OMIM:605418": "DICKKOPF-LIKE 1; DKKL1", "OMIM:605420": "ARISTALESS HOMEOBOX 4; ALX4", "OMIM:605421": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 9; ADAMTS9", "OMIM:605422": "ZINC FINGER PROTEIN 350; ZNF350", "OMIM:605423": "DESERT HEDGEHOG SIGNALING MOLECULE; DHH", "OMIM:605424": "MASTERMIND-LIKE 1; MAML1", "OMIM:605425": "GAP JUNCTION PROTEIN, BETA-4; GJB4", "OMIM:605426": "TUMOR PROTEIN p53-REGULATED APOPTOSIS-INDUCING PROTEIN 1; TP53AIP1", "OMIM:605427": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4", "OMIM:605429": "DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF; DFNB26M", "OMIM:605430": "SPERM-ASSOCIATED ANTIGEN 9; SPAG9", "OMIM:605431": "MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 3; MAPK8IP3", "OMIM:605433": "KINESIN FAMILY MEMBER 13A; KIF13A", "OMIM:605434": "CLASPIN; CLSPN", "OMIM:605435": "PROTEIN KINASE D1; PRKD1", "OMIM:605436": "SMALL NUCLEOLAR RNA, C/D BOX, 116-1; SNORD116-1", "OMIM:605437": "PROTEIN KINASE C, ETA; PRKCH", "OMIM:605438": "DISCS LARGE-ASSOCIATED PROTEIN 2; DLGAP2", "OMIM:605439": "ETS HOMOLOGOUS FACTOR; EHF", "OMIM:605440": "UBIQUILIN 4; UBQLN4", "OMIM:605441": "ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ", "OMIM:605442": "WT1-ASSOCIATED PROTEIN; WTAP", "OMIM:605443": "PCGEM1 PROSTATE-SPECIFIC TRANSCRIPT; PCGEM1", "OMIM:605444": "RBMX-LIKE PROTEIN 2; RBMXL2", "OMIM:605445": "DISCS LARGE-ASSOCIATED PROTEIN 1; DLGAP1", "OMIM:605446": "RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1", "OMIM:605447": "SMALL NUCLEOLAR RNA HOST GENE 32; SNHG32", "OMIM:605448": "RUN DOMAIN-CONTAINING PROTEIN 3A; RUNDC3A", "OMIM:605449": "GLUTATHIONE S-TRANSFERASE, ALPHA-3; GSTA3", "OMIM:605450": "GLUTATHIONE S-TRANSFERASE, ALPHA-4; GSTA4", "OMIM:605451": "p21 PROTEIN-ACTIVATED KINASE 4; PAK4", "OMIM:605452": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 6; ABCB6", "OMIM:605453": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 9; ABCB9", "OMIM:605454": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 10; ABCB10", "OMIM:605455": "RAS-ASSOCIATED PROTEIN RAB26; RAB26", "OMIM:605456": "BET1 GOLGI VESICULAR MEMBRANE-TRAFFICKING PROTEIN; BET1", "OMIM:605457": "INTERLEUKIN 22 RECEPTOR, ALPHA-1; IL22RA1", "OMIM:605458": "INTERLEUKIN 17 RECEPTOR B; IL17RB", "OMIM:605459": "ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5", "OMIM:605460": "ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8", "OMIM:605461": "INTERLEUKIN 17 RECEPTOR A; IL17RA", "OMIM:605463": "RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT", "OMIM:605464": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8; ABCB8", "OMIM:605465": "ZINC FINGER PROTEIN 277; ZNF277", "OMIM:605466": "SIGNAL REGULATORY PROTEIN, GAMMA; SIRPG", "OMIM:605467": "ZINC FINGER PROTEIN 274; ZNF274", "OMIM:605468": "CDC42 EFFECTOR PROTEIN 4; CDC42EP4", "OMIM:605469": "LYSINE DEMETHYLASE 4C; KDM4C", "OMIM:605470": "MATRIX METALLOPROTEINASE 26; MMP26", "OMIM:605471": "ZINC FINGER FYVE TYPE-CONTAINING PROTEIN 1; ZFYVE1", "OMIM:605473": "UBIQUILIN 3; UBQLN3", "OMIM:605474": "TOLL-LIKE RECEPTOR 9; TLR9", "OMIM:605475": "BAI1-ASSOCIATED PROTEIN 2; BAIAP2", "OMIM:605476": "ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 2; AGAP2", "OMIM:605477": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 7; ARHGEF7", "OMIM:605478": "SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN; SIGIRR", "OMIM:605480": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3", "OMIM:605481": "ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM", "OMIM:605482": "GLUTATHIONE S-TRANSFERASE, OMEGA-1; GSTO1", "OMIM:605483": "DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 2; DNAI2", "OMIM:605484": "Fc FRAGMENT OF IgA AND IgM, RECEPTOR FOR; FCAMR", "OMIM:605485": "VPS41 SUBUNIT OF HOPS COMPLEX; VPS41", "OMIM:605487": "cAMP-REGULATED PHOSPHOPROTEIN 19; ARPP19", "OMIM:605488": "cAMP-REGULATED PHOSPHOPROTEIN 21; ARPP21", "OMIM:605489": "INTRAFLAGELLAR TRANSPORT 81; IFT81", "OMIM:605490": "LON PEPTIDASE 1, MITOCHONDRIAL; LONP1", "OMIM:605491": "NEBULETTE; NEBL", "OMIM:605492": "LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 2; LRRN2", "OMIM:605493": "TRIPARTITE MOTIF-CONTAINING PROTEIN 3; TRIM3", "OMIM:605494": "INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP", "OMIM:605495": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B3; SLCO1B3", "OMIM:605496": "CENTROSOMAL PROTEIN 1; CEP1", "OMIM:605497": "CARTILAGE-ASSOCIATED PROTEIN; CRTAP", "OMIM:605498": "M-PHASE PHOSPHOPROTEIN 1; MPHOSPH1", "OMIM:605499": "ZW10 INTERACTOR, ANTISENSE; ZWINTAS", "OMIM:605500": "M-PHASE PHOSPHOPROTEIN 6; MPHOSPH6", "OMIM:605501": "M-PHASE PHOSPHOPROTEIN 9; MPHOSPH9", "OMIM:605502": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 2; DNAJC2", "OMIM:605503": "M-PHASE PHOSPHOPROTEIN 10; MPHOSPH10", "OMIM:605504": "KALLIKREIN-RELATED PEPTIDASE 9; KLK9", "OMIM:605505": "KALLIKREIN-RELATED PEPTIDASE 13; KLK13", "OMIM:605506": "VPS26 RETROMER COMPLEX COMPONENT A; VPS26A", "OMIM:605507": "INTERLEUKIN 36 RECEPTOR ANTAGONIST; IL36RN", "OMIM:605508": "INTERLEUKIN 36, BETA; IL36B", "OMIM:605509": "INTERLEUKIN 36, ALPHA; IL36A", "OMIM:605510": "INTERLEUKIN 37; IL37", "OMIM:605511": "TRANSMEMBRANE PROTEASE, SERINE 3; TMPRSS3", "OMIM:605512": "ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4", "OMIM:605513": "MELAN A; MLANA", "OMIM:605514": "PROTOCADHERIN 15; PCDH15", "OMIM:605515": "FORKHEAD BOX P1; FOXP1", "OMIM:605516": "CADHERIN 23; CDH23", "OMIM:605517": "BETA-1,4-GLUCURONYLTRANSFERASE 1; B4GAT1", "OMIM:605518": "LIPIN 1; LPIN1", "OMIM:605519": "LIPIN 2; LPIN2", "OMIM:605520": "LIPIN 3; LPIN3", "OMIM:605521": "TATA BOX-BINDING PROTEIN-LIKE PROTEIN 1; TBPL1", "OMIM:605522": "LIMB DEVELOPMENT MEMBRANE PROTEIN 1; LMBR1", "OMIM:605523": "TRANSDUCER OF ERBB2, 1; TOB1", "OMIM:605525": "CHROMATIN LICENSING AND DNA REPLICATION FACTOR 1; CDT1", "OMIM:605526": "ALZHEIMER DISEASE 6", "OMIM:605527": "METHIONINE ADENOSYLTRANSFERASE II, BETA; MAT2B", "OMIM:605528": "NEURAMINIDASE 2; NEU2", "OMIM:605529": "UPF2 REGULATOR OF NONSENSE-MEDIATED mRNA DECAY; UPF2", "OMIM:605530": "UPF3A REGULATOR OF NONSENSE-MEDIATED mRNA DECAY; UPF3A", "OMIM:605532": "SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 2; SMURF2", "OMIM:605533": "NEUREGULIN 3; NRG3", "OMIM:605534": "HIGH MOBILITY GROUP PROTEIN 20A; HMG20A", "OMIM:605535": "HIGH MOBILITY GROUP PROTEIN 20B; HMG20B", "OMIM:605536": "RAB11 FAMILY-INTERACTING PROTEIN 5; RAB11FIP5", "OMIM:605537": "ACTIVATING TRANSCRIPTION FACTOR 6; ATF6", "OMIM:605538": "NEUROTENSIN RECEPTOR 2; NTSR2", "OMIM:605539": "KALLIKREIN-RELATED PEPTIDASE 12; KLK12", "OMIM:605540": "TERMINAL NUCLEOTIDYLTRANSFERASE 4B; TENT4B", "OMIM:605541": "VAV GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; VAV3", "OMIM:605542": "INTERLEUKIN 36, GAMMA; IL36G", "OMIM:605544": "FIBROMATOSIS, GINGIVAL, 2; GINGF2", "OMIM:605545": "CD163 ANTIGEN; CD163", "OMIM:605546": "GLYCOPROTEIN VI, PLATELET; GP6", "OMIM:605547": "FOLLISTATIN-LIKE 1; FSTL1", "OMIM:605548": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 15; ADAM15", "OMIM:605550": "RAS PROTEIN, DEXAMETHASONE-INDUCED, 1; RASD1", "OMIM:605551": "NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN; NOS1AP", "OMIM:605553": "POLY(A) POLYMERASE, ALPHA; PAPOLA", "OMIM:605554": "CD244 ANTIGEN; CD244", "OMIM:605555": "ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; AIP", "OMIM:605556": "SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE TRANSPORTER-LIKE), MEMBER 10; SLC4A10", "OMIM:605557": "PR DOMAIN-CONTAINING PROTEIN 16; PRDM16", "OMIM:605558": "FIBROBLAST GROWTH FACTOR 20; FGF20", "OMIM:605559": "HOMEOBOX C11; HOXC11", "OMIM:605560": "HOMEOBOX C10; HOXC10", "OMIM:605561": "PLAKOPHILIN 3; PKP3", "OMIM:605562": "SECRETOGLOBIN, FAMILY 2A, MEMBER 2; SCGB2A2", "OMIM:605563": "CALCIUM-BINDING PROTEIN 1; CABP1", "OMIM:605564": "CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2", "OMIM:605565": "RESISTIN; RETN", "OMIM:605566": "RETICULON 4 RECEPTOR; RTN4R", "OMIM:605567": "SIVA APOPTOSIS-INDUCING FACTOR 1; SIVA1", "OMIM:605568": "SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 1; SMURF1", "OMIM:605569": "G PROTEIN-COUPLED RECEPTOR 83; GPR83", "OMIM:605570": "RAS-ASSOCIATED PROTEIN RAB11A; RAB11A", "OMIM:605571": "PIWI-LIKE RNA-MEDIATED GENE SILENCING 1; PIWIL1", "OMIM:605573": "17-BETA HYDROXYSTEROID DEHYDROGENASE III; HSD17B3", "OMIM:605574": "UBIQUITIN-CONJUGATING ENZYME E2 C; UBE2C", "OMIM:605575": "STRUCTURAL MAINTENANCE OF CHROMOSOMES 4; SMC4", "OMIM:605576": "STRUCTURAL MAINTENANCE OF CHROMOSOMES 2; SMC2", "OMIM:605577": "RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 2; RASGRP2", "OMIM:605578": "INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 2; IFITM2", "OMIM:605579": "INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 3; IFITM3", "OMIM:605580": "INTERLEUKIN 23-ALPHA; IL23A", "OMIM:605581": "BETA-1,3-N-ACETYLGLUCOSYAMINYLTRANSFERASE 2; B3GNT2", "OMIM:605582": "CARDIOMYOPATHY, DILATED, 1K; CMD1K", "OMIM:605584": "DEAH-BOX HELICASE 38; DHX38", "OMIM:605585": "CELL DIVISION CYCLE 40; CDC40", "OMIM:605586": "IMPORTIN 7; IPO7", "OMIM:605587": "PROTEASE INHIBITOR 14; PI14", "OMIM:605590": "SPLICING FACTOR 3B, SUBUNIT 1; SF3B1", "OMIM:605591": "SPLICING FACTOR 3B, SUBUNIT 2; SF3B2", "OMIM:605592": "SPLICING FACTOR 3B, SUBUNIT 3; SF3B3", "OMIM:605593": "SPLICING FACTOR 3B, SUBUNIT 4; SF3B4", "OMIM:605595": "SPLICING FACTOR 3A, SUBUNIT 1; SF3A1", "OMIM:605596": "SPLICING FACTOR 3A, SUBUNIT 3; SF3A3", "OMIM:605597": "FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2", "OMIM:605598": "TYPE 1 DIABETES MELLITUS 18; T1D18", "OMIM:605599": "LYSOPHOSPHOLIPASE I; LYPLA1", "OMIM:605600": "IMPORTIN 8; IPO8", "OMIM:605601": "PROTEOGLYCAN 2; PRG2", "OMIM:605602": "MYOZENIN 2; MYOZ2", "OMIM:605603": "MYOZENIN 1; MYOZ1", "OMIM:605604": "POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2; PAIP2", "OMIM:605606": "PSORIASIS 7, SUSCEPTIBILITY TO; PSORS7", "OMIM:605607": "CENTROMERIC PROTEIN H; CENPH", "OMIM:605608": "CLAUDIN 14; CLDN14", "OMIM:605609": "OXIDATION RESISTANCE 1; OXR1", "OMIM:605610": "POLYNUCLEOTIDE KINASE 3-PRIME PHOSPHATASE; PNKP", "OMIM:605611": "SH3 DOMAIN-BINDING PROTEIN 4; SH3BP4", "OMIM:605612": "SH3 DOMAIN-BINDING PROTEIN 5; SH3BP5", "OMIM:605613": "HUNTINGTIN-INTERACTING PROTEIN 1-RELATED PROTEIN; HIP1R", "OMIM:605614": "GCN1 ACTIVATOR OF EIF2AK4; GCN1", "OMIM:605615": "ARIADNE RBR E3 UBIQUITIN PROTEIN LIGASE 2; ARIH2", "OMIM:605616": "SOLUTE CARRIER FAMILY 6 (PROLINE IMINO TRANSPORTER), MEMBER 20; SLC6A20", "OMIM:605618": "TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE", "OMIM:605619": "INTERLEUKIN 20; IL20", "OMIM:605620": "INTERLEUKIN 20 RECEPTOR, ALPHA; IL20RA", "OMIM:605621": "INTERLEUKIN 20 RECEPTOR, BETA; IL20RB", "OMIM:605622": "PROTOCADHERIN 12; PCDH12", "OMIM:605623": "MUSKELIN 1; MKLN1", "OMIM:605624": "ARIADNE RBR E3 UBIQUITIN PROTEIN LIGASE 1; ARIH1", "OMIM:605625": "MYELOMA OVEREXPRESSED GENE; MYEOV", "OMIM:605626": "ENDOGENOUS RETROVIRUS GROUP K, MEMBER 6; ERVK-6", "OMIM:605628": "HIV-1 TAT-INTERACTING PROTEIN 2, 30-KD; HTATIP2", "OMIM:605629": "CITRON RHO-INTERACTING SERINE/THREONINE KINASE; CIT", "OMIM:605630": "PHOSPHOLIPASE A2, GROUP IID; PLA2G2D", "OMIM:605631": "NAPSIN A; NAPSA", "OMIM:605632": "SOLUTE CARRIER FAMILY 35 (UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER 3; SLC35A3", "OMIM:605633": "MUCIN 3B, INTESTINAL; MUC3B", "OMIM:605634": "SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1; SLC35A1", "OMIM:605636": "MATERNALLY EXPRESSED GENE 3; MEG3", "OMIM:605638": "BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 6; BIRC6", "OMIM:605639": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 8; SIGLEC8", "OMIM:605640": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 9; SIGLEC9", "OMIM:605641": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 6; SLC7A6", "OMIM:605642": "THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA", "OMIM:605643": "KALLIKREIN-RELATED PEPTIDASE 5; KLK5", "OMIM:605644": "KALLIKREIN-RELATED PEPTIDASE 8; KLK8", "OMIM:605645": "RESISTIN-LIKE PROTEIN, BETA; RETNLB", "OMIM:605646": "SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4", "OMIM:605647": "F-BOX ONLY PROTEIN 6; FBXO6", "OMIM:605648": "F-BOX ONLY PROTEIN 7; FBXO7", "OMIM:605649": "F-BOX ONLY PROTEIN 8; FBXO8", "OMIM:605650": "POLYMERASE, DNA, KAPPA; POLK", "OMIM:605651": "F-BOX AND WD40 DOMAIN PROTEIN 11; FBXW11", "OMIM:605652": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 2; FBXL2", "OMIM:605653": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3; FBXL3", "OMIM:605654": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 4; FBXL4", "OMIM:605655": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 5; FBXL5", "OMIM:605656": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 7; FBXL7", "OMIM:605657": "LYSINE DEMETHYLASE 2A; KDM2A", "OMIM:605658": "INTERLEUKIN 25; IL25", "OMIM:605659": "C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER D; CLEC2D", "OMIM:605660": "PREFOLDIN 6; PFDN6", "OMIM:605661": "TRIPARTITE MOTIF-CONTAINING PROTEIN 13; TRIM13", "OMIM:605662": "RAS-ASSOCIATED PROTEIN RAB36; RAB36", "OMIM:605663": "RADIAL SPOKE HEAD 14 HOMOLOG; RSPH14", "OMIM:605664": "KINESIN FAMILY MEMBER 20A; KIF20A", "OMIM:605666": "CYSTEINYL LEUKOTRIENE RECEPTOR 2; CYSLTR2", "OMIM:605667": "RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 1; RGL1", "OMIM:605668": "BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 2; BACE2", "OMIM:605669": "PROSTATE AND BREAST CANCER OVEREXPRESSED 1; PBOV1", "OMIM:605671": "DMX-LIKE 1; DMXL1", "OMIM:605672": "CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM", "OMIM:605673": "B-CELL ANTIPROLIFERATION FACTOR 4; BTG4", "OMIM:605674": "B-CELL ANTIPROLIFERATION FACTOR 3; BTG3", "OMIM:605675": "RING FINGER PROTEIN 14; RNF14", "OMIM:605677": "ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 5; ACSL5", "OMIM:605678": "MLX-INTERACTING PROTEIN-LIKE; MLXIPL", "OMIM:605679": "INTERLEUKIN 26; IL26", "OMIM:605680": "BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1A; BAZ1A", "OMIM:605681": "BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1B; BAZ1B", "OMIM:605682": "BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 2A; BAZ2A", "OMIM:605683": "BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 2B; BAZ2B", "OMIM:605684": "TRIPARTITE MOTIF-CONTAINING PROTEIN 34; TRIM34", "OMIM:605686": "CELL ADHESION MOLECULE 1; CADM1", "OMIM:605687": "INTERLEUKIN 19; IL19", "OMIM:605688": "COPINE VI; CPNE6", "OMIM:605689": "COPINE VII; CPNE7", "OMIM:605690": "BRD4-INTERACTING CHROMATIN REMODELING COMPLEX-ASSOCIATED PROTEIN; BICRA", "OMIM:605691": "RIBOSOME BIOGENESIS FACTOR NOP53; NOP53", "OMIM:605692": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7; TRPM7", "OMIM:605693": "RAS-ASSOCIATED PROTEIN RAB30; RAB30", "OMIM:605694": "RAS-ASSOCIATED PROTEIN RAB31; RAB31", "OMIM:605695": "BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 4; BLOC1S4", "OMIM:605696": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 2; KCNG2", "OMIM:605697": "UL16-BINDING PROTEIN 1; ULBP1", "OMIM:605698": "UL16-BINDING PROTEIN 2; ULBP2", "OMIM:605699": "UL16-BINDING PROTEIN 3; ULBP3", "OMIM:605700": "TRIPARTITE MOTIF-CONTAINING PROTEIN 39; TRIM39", "OMIM:605701": "TRIPARTITE MOTIF-CONTAINING PROTEIN 10; TRIM10", "OMIM:605702": "LYMPHATIC VESSEL ENDOTHELIAL HYALURONAN RECEPTOR 1; LYVE1", "OMIM:605703": "VAMP-ASSOCIATED PROTEIN A; VAPA", "OMIM:605704": "VAMP-ASSOCIATED PROTEIN B AND C; VAPB", "OMIM:605705": "SALT-INDUCIBLE KINASE 1; SIK1", "OMIM:605706": "RECEPTOR-INTERACTING SERINE-THREONINE KINASE 4; RIPK4", "OMIM:605708": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 11; ARHGEF11", "OMIM:605709": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 6-INTERACTING PROTEIN 5; ARL6IP5", "OMIM:605710": "GDNF FAMILY RECEPTOR ALPHA-3; GFRA3", "OMIM:605712": "SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1", "OMIM:605713": "SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 2; SPTLC2", "OMIM:605715": "CD276 ANTIGEN; CD276", "OMIM:605716": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 5; KCNH5", "OMIM:605717": "INDUCIBLE T-CELL COSTIMULATOR LIGAND; ICOSLG", "OMIM:605718": "MEDIATOR COMPLEX SUBUNIT 4; MED4", "OMIM:605719": "LINKER FOR ACTIVATION OF T CELLS FAMILY, MEMBER 2; LAT2", "OMIM:605720": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 4; KCNK4", "OMIM:605721": "JUNCTION ADHESION MOLECULE 1; JAM1", "OMIM:605722": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 16; KCNJ16", "OMIM:605723": "PROGRAMMED CELL DEATH 1 LIGAND 2; PDCD1LG2", "OMIM:605725": "PERIAXIN; PRX", "OMIM:605727": "OTOSCLEROSIS 2; OTSC2", "OMIM:605728": "CATARACT 25; CTRCT25", "OMIM:605729": "AT-HOOK TRANSCRIPTION FACTOR AKNA; AKNA", "OMIM:605730": "SPERM-ASSOCIATED ANTIGEN 6; SPAG6", "OMIM:605731": "SPERM-ASSOCIATED ANTIGEN 8; SPAG8", "OMIM:605732": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 21; TNFRSF21", "OMIM:605733": "PRELI DOMAIN-CONTAINING PROTEIN 1; PRELID1", "OMIM:605734": "TRANSMEMBRANE PROTEIN WITH EGF-LIKE AND 2 FOLLISTATIN-LIKE DOMAINS 2; TMEFF2", "OMIM:605736": "UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN A; UBASH3A", "OMIM:605737": "BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 7; BIRC7", "OMIM:605738": "MICROPHTHALMIA/COLOBOMA 2; MCOPCB2", "OMIM:605739": "KYPHOSCOLIOSIS PEPTIDASE; KY", "OMIM:605740": "SCLEROSTIN; SOST", "OMIM:605741": "G PROTEIN-COUPLED RECEPTOR 183; GPR183", "OMIM:605742": "TUBULIN, ALPHA-8; TUBA8", "OMIM:605743": "HEDGEHOG ACYLTRANSFERASE; HHAT", "OMIM:605744": "EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 3; EXTL3", "OMIM:605745": "CYTOCHROME b REDUCTASE 1; CYBRD1", "OMIM:605746": "ANISOMASTIA", "OMIM:605747": "LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1", "OMIM:605748": "BETA-CAROTENE OXYGENASE 1; BCO1", "OMIM:605749": "CATARACT 26, MULTIPLE TYPES; CTRCT26", "OMIM:605752": "HID1 DOMAIN-CONTAINING PROTEIN 1; HID1", "OMIM:605753": "SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 2; SPINK2", "OMIM:605754": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Q PROTEIN; PIGQ", "OMIM:605755": "DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 2; DCDC2", "OMIM:605756": "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH SHORT STATURE AND RECURRENT METABOLIC ACIDOSIS", "OMIM:605757": "PELOTA mRNA SURVEILLANCE AND RIBOSOME RESCUE FACTOR; PELO", "OMIM:605758": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; ASB1", "OMIM:605759": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 2; ASB2", "OMIM:605760": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 3; ASB3", "OMIM:605761": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 4; ASB4", "OMIM:605762": "MOK PROTEIN KINASE; MOK", "OMIM:605763": "SOLUTE CARRIER FAMILY 45, MEMBER 1; SLC45A1", "OMIM:605764": "TYROSYL-DNA PHOSPHODIESTERASE 2; TDP2", "OMIM:605765": "DELETED IN LYMPHOCYTIC LEUKEMIA 1; DLEU1", "OMIM:605766": "DELETED IN LYMPHOCYTIC LEUKEMIA 2; DLEU2", "OMIM:605767": "PHOSPHOPROTEIN ASSOCIATED WITH GLYCOSPHINGOLIPID-ENRICHED MICRODOMAINS 1; PAG1", "OMIM:605768": "DUAL ADAPTOR OF PHOSPHOTYROSINE AND 3-PHOSPHOINOSITIDES 1; DAPP1", "OMIM:605769": "TRIPARTITE MOTIF-CONTAINING PROTEIN 33; TRIM33", "OMIM:605770": "ILVB-LIKE; ILVBL", "OMIM:605771": "COX7A2-LIKE PROTEIN; COX7A2L", "OMIM:605772": "ESTROGEN RECEPTOR-BINDING SITE-ASSOCIATED ANTIGEN, 9; EBAG9", "OMIM:605773": "LEUKOTRIENE B4 RECEPTOR 2; LTB4R2", "OMIM:605774": "KELCH-LIKE 2; KLHL2", "OMIM:605775": "KELCH-LIKE 3; KLHL3", "OMIM:605776": "FIBRINOGEN-LIKE 1; FGL1", "OMIM:605777": "SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3", "OMIM:605778": "NIF3-LIKE 1; NIF3L1", "OMIM:605780": "PR DOMAIN-CONTAINING PROTEIN 4; PRDM4", "OMIM:605781": "RAS HOMOLOG GENE FAMILY, MEMBER D; RHOD", "OMIM:605782": "EUKARYOTIC TRANSLATION INITIATION FACTOR 5A2; EIF5A2", "OMIM:605783": "BCAS2 PRE-mRNA PROCESSING FACTOR; BCAS2", "OMIM:605784": "TWEETY FAMILY MEMBER 1; TTYH1", "OMIM:605785": "TUBULIN, GAMMA-2; TUBG2", "OMIM:605786": "RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 3; RBMS3", "OMIM:605787": "ANKYRIN REPEAT-CONTAINING PROTEIN, FAMILY A, MEMBER 2; ANKRA2", "OMIM:605788": "MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 3; MAPRE3", "OMIM:605789": "MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 2; MAPRE2", "OMIM:605790": "SERINE/THREONINE KINASE 31; STK31", "OMIM:605791": "TESTIS-EXPRESSED GENE 12; TEX12", "OMIM:605792": "TESTIS-EXPRESSED GENE 14; TEX14", "OMIM:605793": "RING FINGER PROTEIN 17; RNF17", "OMIM:605794": "MOV10-LIKE RISC COMPLEX RNA HELICASE 1; MOV10L1", "OMIM:605795": "TESTIS-EXPRESSED GENE 15; TEX15", "OMIM:605796": "TUDOR DOMAIN-CONTAINING PROTEIN 1; TDRD1", "OMIM:605797": "ANKYRIN REPEAT, SAM, AND BASIC LEUCINE ZIPPER DOMAIN-CONTAINING 1; ASZ1", "OMIM:605798": "NEURAL PROLIFERATION, DIFFERENTIATION, AND CONTROL PROTEIN 1; NPDC1", "OMIM:605799": "AMNION-ASSOCIATED TRANSMEMBRANE PROTEIN; AMN", "OMIM:605800": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U-LIKE 1; HNRNPUL1", "OMIM:605801": "RALA-BINDING PROTEIN 1; RALBP1", "OMIM:605802": "ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2", "OMIM:605803": "DERMATITIS, ATOPIC, 2; ATOD2", "OMIM:605804": "DERMATITIS, ATOPIC, 3; ATOD3", "OMIM:605805": "DERMATITIS, ATOPIC, 4; ATOD4", "OMIM:605806": "CADHERIN 7; CDH7", "OMIM:605807": "CADHERIN 20; CDH20", "OMIM:605810": "MITOCHONDRIAL RIBOSOMAL PROTEIN S22; MRPS22", "OMIM:605811": "NTF2-LIKE EXPORT FACTOR 1; NXT1", "OMIM:605812": "DEAD-BOX HELICASE 19B; DDX19B", "OMIM:605813": "NUCLEAR TRANSPORT FACTOR 2; NUTF2", "OMIM:605815": "NUCLEOPORIN, 62-KD; NUP62", "OMIM:605816": "EPSTEIN-BARR VIRUS-INDUCED GENE 3; EBI3", "OMIM:605817": "RECEPTOR-INTERACTING SERINE/THREONINE KINASE 3; RIPK3", "OMIM:605819": "PESCADILLO RIBOSOMAL BIOGENESIS FACTOR 1; PES1", "OMIM:605821": "ALPHA-HEMOGLOBIN STABILIZING PROTEIN; AHSP", "OMIM:605823": "POPEYE DOMAIN-CONTAINING PROTEIN 2; POPDC2", "OMIM:605824": "POPEYE DOMAIN-CONTAINING PROTEIN 3; POPDC3", "OMIM:605825": "HEME-BINDING PROTEIN 2; HEBP2", "OMIM:605826": "HEME-BINDING PROTEIN 1; HEBP1", "OMIM:605828": "TRANSMEMBRANE CHANNEL-LIKE PROTEIN 6; TMC6", "OMIM:605829": "TRANSMEMBRANE CHANNEL-LIKE PROTEIN 8; TMC8", "OMIM:605830": "FIBROBLAST GROWTH FACTOR RECEPTOR-LIKE 1; FGFRL1", "OMIM:605831": "FIBROBLAST GROWTH FACTOR 22; FGF22", "OMIM:605832": "ACETYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 2; ACSS2", "OMIM:605833": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2", "OMIM:605834": "TROPOMODULIN 4; TMOD4", "OMIM:605835": "CELL MIGRATION-INDUCING HYALURONIDASE 2; CEMIP2", "OMIM:605836": "UNC13 HOMOLOG B; UNC13B", "OMIM:605837": "HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2", "OMIM:605838": "BABY RATTLE PELVIS DYSPLASIA", "OMIM:605840": "RING FINGER PROTEIN 111; RNF111", "OMIM:605841": "NARCOLEPSY 2, SUSCEPTIBILITY TO; NRCLP2", "OMIM:605842": "TRANSDUCIN-BETA-LIKE 2; TBL2", "OMIM:605843": "PEROXISOMAL TRANS-2-ENOYL-CoA REDUCTASE; PECR", "OMIM:605844": "DERMATITIS, ATOPIC, 5; ATOD5", "OMIM:605845": "DERMATITIS, ATOPIC, 6; ATOD6", "OMIM:605846": "BAF CHROMATIN REMODELING COMPLEX SUBUNIT BCL7B; BCL7B", "OMIM:605847": "BAF CHROMATIN REMODELING COMPLEX SUBUNIT BCL7C; BCL7C", "OMIM:605848": "CASPASE 14, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP14", "OMIM:605849": "DIMETHYLGLYCINE DEHYDROGENASE; DMGDH", "OMIM:605851": "ISOPRENYLCYSTEINE CARBOXYLMETHYLTRANSFERASE; ICMT", "OMIM:605852": "CYTOPLASMIC LINKER-ASSOCIATED PROTEIN 1; CLASP1", "OMIM:605853": "CYTOPLASMIC LINKER-ASSOCIATED PROTEIN 2; CLASP2", "OMIM:605854": "BCL2-BINDING COMPONENT 3; BBC3", "OMIM:605855": "ATPase, PHOSPHOLIPID-TRANSPORTING, 10A; ATP10A", "OMIM:605856": "SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA, MICROPHTHALMIA, AND ATYPICAL CLEFTING", "OMIM:605857": "RAS HOMOLOG GENE FAMILY, MEMBER Q; RHOQ", "OMIM:605858": "SCRATCH FAMILY TRANSCRIPTIONAL REPRESSOR 1; SCRT1", "OMIM:605859": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 32; ZBTB32", "OMIM:605860": "RCAN FAMILY MEMBER 3; RCAN3", "OMIM:605861": "CANOPY FGF SIGNALING REGULATOR 2; CNPY2", "OMIM:605862": "RIBITOL XYLOSYLTRANSFERASE 1; RXYLT1", "OMIM:605863": "BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 3; B3GNT3", "OMIM:605864": "BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 4; B3GNT4", "OMIM:605865": "TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3", "OMIM:605866": "ATPase, CLASS I, TYPE 8B, MEMBER 3; ATP8B3", "OMIM:605867": "ATPase, CLASS I, TYPE 8B, MEMBER 2; ATP8B2", "OMIM:605868": "ATPase, PHOSPHOLIPID TRANSPORTING, 11A; ATP11A", "OMIM:605869": "ATPase, CLASS VI, TYPE 11B; ATP11B", "OMIM:605870": "ATPase, CLASS I, TYPE 8A, MEMBER 2; ATP8A2", "OMIM:605872": "C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER M; CLEC4M", "OMIM:605873": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 10; KCNK10", "OMIM:605874": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9", "OMIM:605875": "WASP PROTEIN FAMILY, MEMBER 2; WASF2", "OMIM:605876": "Fc RECEPTOR-LIKE PROTEIN 4; FCRL4", "OMIM:605877": "Fc RECEPTOR-LIKE PROTEIN 5; FCRL5", "OMIM:605878": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7A; ZBTB7A", "OMIM:605879": "POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 2; KCNN2", "OMIM:605880": "LYSINE ACETYLTRANSFERASE 6B; KAT6B", "OMIM:605881": "SOLUTE CARRIER FAMILY 35, MEMBER C1; SLC35C1", "OMIM:605882": "BRCA1-INTERACTING PROTEIN 1; BRIP1", "OMIM:605883": "LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 3; LAMP3", "OMIM:605884": "DYNEIN, AXONEMAL, HEAVY CHAIN 10; DNAH10", "OMIM:605885": "SEMAPHORIN 6A; SEMA6A", "OMIM:605886": "COMPLEMENT COMPONENT RECEPTOR 1-LIKE; CR1L", "OMIM:605888": "EH DOMAIN-CONTAINING 1; EHD1", "OMIM:605889": "PDZ AND LIM DOMAIN PROTEIN 3; PDLIM3", "OMIM:605890": "EH DOMAIN-CONTAINING 2; EHD2", "OMIM:605891": "EH DOMAIN-CONTAINING 3; EHD3", "OMIM:605892": "EH DOMAIN-CONTAINING 4; EHD4", "OMIM:605893": "CDP-DIACYLGLYCEROL-INOSITOL 3-PHOSPHATIDYLTRANSFERASE; CDIPT", "OMIM:605894": "EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 1; EID1", "OMIM:605895": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 2; EIF4E2", "OMIM:605896": "ENDOTHELIN-CONVERTING ENZYME-LIKE 1; ECEL1", "OMIM:605897": "UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 1; UGGT1", "OMIM:605898": "UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 2; UGGT2", "OMIM:605900": "PDZ AND LIM DOMAIN PROTEIN 1; PDLIM1", "OMIM:605901": "UROCORTIN III; UCN3", "OMIM:605902": "UROCORTIN II; UCN2", "OMIM:605903": "PDZ AND LIM DOMAIN PROTEIN 7; PDLIM7", "OMIM:605904": "PDZ AND LIM DOMAIN PROTEIN 5; PDLIM5", "OMIM:605905": "DCN1 DOMAIN-CONTAINING PROTEIN 1; DCUN1D1", "OMIM:605906": "LIM DOMAIN-BINDING 3; LDB3", "OMIM:605907": "ALG1 CHITOBIOSYLDIPHOSPHODOLICHOL BETA-MANNOSYLTRANSFERASE; ALG1", "OMIM:605908": "MODULATOR OF VRAC CURRENT 1; MLC1", "OMIM:605910": "ANGIOPOIETIN-LIKE 4; ANGPTL4", "OMIM:605912": "MATRIX, EXTRACELLULAR, PHOSPHOGLYCOPROTEIN; MEPE", "OMIM:605913": "BLEEDING DISORDER, EAST TEXAS TYPE", "OMIM:605914": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12A; TNFRSF12A", "OMIM:605915": "TRANSDUCIN-BETA-LIKE 3; TBL3", "OMIM:605916": "SPECTRIN, BETA, NONERYTHROCYTIC, 5; SPTBN5", "OMIM:605917": "TPX2 MICROTUBULE NUCLEATION FACTOR; TPX2", "OMIM:605918": "SPONDIN 2; SPON2", "OMIM:605920": "STAUFEN DOUBLE-STRANDED RNA-BINDING PROTEIN 2; STAU2", "OMIM:605921": "STROMAL INTERACTION MOLECULE 1; STIM1", "OMIM:605922": "MYOINOSITOL MONOPHOSPHATASE 2; IMPA2", "OMIM:605923": "SRY-BOX 8; SOX8", "OMIM:605924": "WD REPEAT-CONTAINING PROTEIN 4; WDR4", "OMIM:605925": "PERICENTRIN; PCNT", "OMIM:605926": "PROTEIN INTERACTING WITH C KINASE 1; PICK1", "OMIM:605927": "MDM2-BINDING PROTEIN; MDM2BP", "OMIM:605928": "ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 1; ARFIP1", "OMIM:605929": "SORTING NEXIN 2; SNX2", "OMIM:605930": "SORTING NEXIN 3; SNX3", "OMIM:605931": "SORTING NEXIN 4; SNX4", "OMIM:605932": "BETAINE-HOMOCYSTEINE METHYLTRANSFERASE 2; BHMT2", "OMIM:605933": "DENDROCYTE-EXPRESSED 7-TRANSMEMBRANE PROTEIN; DCSTAMP", "OMIM:605934": "HOLOPROSENCEPHALY 6; HPE6", "OMIM:605935": "ARTHROPATHY, EROSIVE", "OMIM:605936": "BRIDGING INTEGRATOR 2; BIN2", "OMIM:605937": "SORTING NEXIN 5; SNX5", "OMIM:605938": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS P PROTEIN; PIGP", "OMIM:605939": "PHOSPHOLIPASE C, DELTA-4; PLCD4", "OMIM:605940": "BRAIN-ABUNDANT SIGNAL PROTEIN, MEMBRANE-ATTACHED, 1; BASP1", "OMIM:605941": "SPLICEOSOME-ASSOCIATED FACTOR 1, RECRUITER OF U4/U6.U5 tri-snRNP; SART1", "OMIM:605942": "DERMATAN SULFATE EPIMERASE; DSE", "OMIM:605943": "GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 1; GDE1", "OMIM:605944": "LIVER FIBROCYSTIC DISEASE AND POLYDACTYLY", "OMIM:605945": "CRUMPLED HELICES AND SMALL MOUTH", "OMIM:605946": "METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE", "OMIM:605947": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS L PROTEIN; PIGL", "OMIM:605948": "G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER B; GPRC5B", "OMIM:605949": "G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER C; GPRC5C", "OMIM:605950": "RAS-ASSOCIATED PROTEIN RAB33B; RAB33B", "OMIM:605951": "DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3", "OMIM:605952": "SORTING NEXIN 9; SNX9", "OMIM:605953": "ARF GTPase-ACTIVATING PROTEIN WITH SH3 DOMAIN, ANKYRIN REPEAT, AND PH DOMAIN 1; ASAP1", "OMIM:605954": "FETUIN B; FETUB", "OMIM:605955": "NK6 HOMEOBOX 2; NKX6-2", "OMIM:605956": "NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2", "OMIM:605958": "TRAF-INTERACTING PROTEIN; TRAIP", "OMIM:605959": "HR44 ANTIGEN", "OMIM:605960": "EXOSOME COMPONENT 10; EXOSC10", "OMIM:605961": "PLEIOTROPIC REGULATOR 1; PLRG1", "OMIM:605962": "RAB9 EFFECTOR PROTEIN WITH KELCH MOTIFS; RABEPK", "OMIM:605963": "SORTING NEXIN 17; SNX17", "OMIM:605964": "SORTING NEXIN 15; SNX15", "OMIM:605965": "RAS AND RAB INTERACTOR 1; RIN1", "OMIM:605966": "HEPATOCYTE NUCLEAR FACTOR 4-GAMMA; HNF4G", "OMIM:605968": "RET FINGER PROTEIN-LIKE 1; RFPL1", "OMIM:605969": "RET FINGER PROTEIN-LIKE 2; RFPL2", "OMIM:605970": "RET FINGER PROTEIN-LIKE 3; RFPL3", "OMIM:605971": "RET FINGER PROTEIN-LIKE 3, ANTISENSE; RFPL3S", "OMIM:605972": "RET FINGER PROTEIN-LIKE 1, ANTISENSE; RFPL1S", "OMIM:605973": "DDB1- AND CUL4-ASSOCIATED FACTOR 7; DCAF7", "OMIM:605974": "SLU7 HOMOLOG, SPLICING FACTOR; SLU7", "OMIM:605975": "SERINE/ARGININE REPETITIVE MATRIX PROTEIN 1; SRRM1", "OMIM:605976": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 6; ZBTB6", "OMIM:605977": "INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 2; IMMP2L", "OMIM:605978": "VACUOLAR PROTEIN SORTING 13 HOMOLOG A; VPS13A", "OMIM:605979": "SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 5; SNAPC5", "OMIM:605980": "NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 1; NOD1", "OMIM:605981": "UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1", "OMIM:605983": "PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, ALPHA; PPP2R1A", "OMIM:605984": "EMBRYONIC ECTODERM DEVELOPMENT; EED", "OMIM:605986": "SERINE/THREONINE KINASE RECEPTOR-ASSOCIATED PROTEIN; STRAP", "OMIM:605987": "PROTEIN INHIBITOR OF ACTIVATED STAT3; PIAS3", "OMIM:605988": "DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C", "OMIM:605989": "PROTEIN INHIBITOR OF ACTIVATED STAT4; PIAS4", "OMIM:605990": "NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO", "OMIM:605991": "NEURONAL GUANINE NUCLEOTIDE EXCHANGE FACTOR; NGEF", "OMIM:605992": "LIM HOMEOBOX PROTEIN 5; LHX5", "OMIM:605993": "PYRUVATE DEHYDROGENASE PHOSPHATASE, CATALYTIC SUBUNIT 1; PDP1", "OMIM:605994": "CYTOCHROME P450, FAMILY 39, SUBFAMILY A, POLYPEPTIDE 1; CYP39A1", "OMIM:605995": "KINESIN FAMILY MEMBER 1B; KIF1B", "OMIM:605996": "DECAPPING EXORIBONUCLEASE; DXO", "OMIM:605997": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, GAMMA ISOFORM; PPP2R2C", "OMIM:605998": "HCLS1-ASSOCIATED PROTEIN X1; HAX1", "OMIM:605999": "C-TYPE LECTIN DOMAIN FAMILY 10, MEMBER A; CLEC10A", "OMIM:606000": "BUTYROPHILIN-LIKE PROTEIN 2; BTNL2", "OMIM:606001": "INTERLEUKIN 32; IL32", "OMIM:606004": "GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 1; GGA1", "OMIM:606005": "GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 2; GGA2", "OMIM:606006": "GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 3; GGA3", "OMIM:606007": "POLYMERASE III, RNA, SUBUNIT K; POLR3K", "OMIM:606008": "NATURAL KILLER CELL GROUP 7 SEQUENCE; NKG7", "OMIM:606009": "DOUBLE HOMEOBOX PROTEIN 4; DUX4", "OMIM:606010": "NUCLEAR RECEPTOR-BINDING PROTEIN 1; NRBP1", "OMIM:606011": "V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 2; VSIG2", "OMIM:606013": "F-BOX ONLY PROTEIN 5; FBXO5", "OMIM:606014": "ARISTALESS-LIKE HOMEOBOX 3; ALX3", "OMIM:606015": "FAS APOPTOTIC INHIBITORY MOLECULE 3; FAIM3", "OMIM:606016": "KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; KEAP1", "OMIM:606017": "POLYMERASE II, RNA, SUBUNIT D; POLR2D", "OMIM:606018": "EGF-LIKE REPEATS- AND DISCOIDIN I-LIKE DOMAINS-CONTAINING PROTEIN 3; EDIL3", "OMIM:606019": "EXOSOME COMPONENT 8; EXOSC8", "OMIM:606020": "OPA-INTERACTING PROTEIN 5; OIP5", "OMIM:606021": "PRAME NUCLEAR RECEPTOR TRANSCRIPTIONAL REGULATOR; PRAME", "OMIM:606022": "NUDIX HYDROLASE 9; NUDT9", "OMIM:606023": "POLYMERASE II, RNA, SUBUNIT H; POLR2H", "OMIM:606025": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 20; ZBTB20", "OMIM:606026": "NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER A; NELFA", "OMIM:606027": "CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 1; CPSF1", "OMIM:606028": "CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 2; CPSF2", "OMIM:606029": "CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 3; CPSF3", "OMIM:606030": "ENHANCER OF mRNA DECAPPING 4; EDC4", "OMIM:606031": "WD REPEAT-CONTAINING PROTEIN 6; WDR6", "OMIM:606032": "SERINE/ARGININE REPETITIVE MATRIX PROTEIN 2; SRRM2", "OMIM:606033": "POLYMERASE II, RNA, SUBUNIT K; POLR2K", "OMIM:606034": "RIBONUCLEASE H2, SUBUNIT A; RNASEH2A", "OMIM:606035": "FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1; FIQTL1", "OMIM:606036": "ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR 2; ARNT2", "OMIM:606037": "CD96 ANTIGEN; CD96", "OMIM:606038": "LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6D; LY6G6D", "OMIM:606039": "HYDROXYCARBOXYLIC ACID RECEPTOR 3; HCAR3", "OMIM:606040": "WD REPEAT-CONTAINING PROTEIN 8; WDR8", "OMIM:606041": "SPARC-LIKE PROTEIN 1; SPARCL1", "OMIM:606042": "MYONEURIN; MYNN", "OMIM:606043": "ZINC FINGER PROTEIN 331; ZNF331", "OMIM:606044": "ZINC RIBBON DOMAIN-CONTAINING PROTEIN 2; ZNRD2", "OMIM:606045": "INTRAFLAGELLAR TRANSPORT 122; IFT122", "OMIM:606046": "SYNTAXIN 18; STX18", "OMIM:606047": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 5; LILRA5", "OMIM:606048": "MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 7; MBOAT7", "OMIM:606049": "ACROMEGALOID FEATURES, OVERGROWTH, CLEFT PALATE, AND HERNIA", "OMIM:606050": "UBIQUITIN D; UBD", "OMIM:606051": "SECRETION-REGULATING GUANINE NUCLEOTIDE EXCHANGE FACTOR; SERGEF", "OMIM:606055": "PHOSPHATIDYLCHOLINE TRANSFER PROTEIN; PCTP", "OMIM:606057": "RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; RAPGEF3", "OMIM:606058": "RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAPGEF4", "OMIM:606059": "PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR ALPHA; PKIA", "OMIM:606060": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 12; DNAJC12", "OMIM:606061": "T-BOX TRANSCRIPTION FACTOR 20; TBX20", "OMIM:606062": "STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3", "OMIM:606063": "EXONUCLEASE 1; EXO1", "OMIM:606064": "CD248 ANTIGEN; CD248", "OMIM:606065": "ATYPICAL CHEMOKINE RECEPTOR 4; ACKR4", "OMIM:606066": "LIM HOMEOBOX GENE 9; LHX9", "OMIM:606067": "OTORAPLIN; OTOR", "OMIM:606073": "NADPH-DEPENDENT DIFLAVIN OXIDOREDUCTASE 1; NDOR1", "OMIM:606074": "GLOBOSIDE ALPHA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE; GBGT1", "OMIM:606075": "TWINKLE mtDNA HELICASE; TWNK", "OMIM:606076": "PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 3; PIK3R3", "OMIM:606077": "RNA-BINDING MOTIF PROTEIN 15; RBM15", "OMIM:606078": "MYOCARDIN-RELATED TRANSCRIPTION FACTOR A; MRTFA", "OMIM:606079": "CD163 ANTIGEN-LIKE 1; CD163L1", "OMIM:606080": "CHITINASE, ACIDIC; CHIA", "OMIM:606081": "TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 70; TOMM70", "OMIM:606082": "GOITER, MULTINODULAR 3; MNG3", "OMIM:606083": "POLYBROMO 1; PBRM1", "OMIM:606084": "CDC42 EFFECTOR PROTEIN 1; CDC42EP1", "OMIM:606085": "TESTIS-DERIVED TRANSCRIPT; TES", "OMIM:606086": "EUKARYOTIC TRANSLATION INITIATION FACTOR 5B; EIF5B", "OMIM:606087": "SYNEMIN; SYNM", "OMIM:606088": "PHOSPHOLIPASE A2, GROUP IVB; PLA2G4B", "OMIM:606089": "BRAIN CYTOPLASMIC RNA 1; BCYRN1", "OMIM:606090": "CARNITINE OCTANOYLTRANSFERASE; CROT", "OMIM:606091": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 10; SIGLEC10", "OMIM:606092": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 14; DNAJC14", "OMIM:606093": "PEPTIDYL-PROLYL ISOMERASE G; PPIG", "OMIM:606094": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 12; SIGLEC12", "OMIM:606095": "PEPTIDYL-PROLYL ISOMERASE H; PPIH", "OMIM:606096": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 12; LGALS12", "OMIM:606097": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN", "OMIM:606098": "SORTING NEXIN 6; SNX6", "OMIM:606099": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 8; LGALS8", "OMIM:606100": "ADHESION G PROTEIN-COUPLED RECEPTOR E2; ADGRE2", "OMIM:606101": "ADHESION G PROTEIN-COUPLED RECEPTOR E3; ADGRE3", "OMIM:606102": "PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C", "OMIM:606103": "SESTRIN 1; SESN1", "OMIM:606105": "SOLUTE CARRIER FAMILY 44, MEMBER 1; SLC44A1", "OMIM:606106": "SOLUTE CARRIER FAMILY 44, MEMBER 2; SLC44A2", "OMIM:606107": "SOLUTE CARRIER FAMILY 44, MEMBER 4; SLC44A4", "OMIM:606108": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1A; PPM1A", "OMIM:606109": "NUDC DOMAIN-CONTAINING PROTEIN 1; NUDCD1", "OMIM:606110": "LY6/NEUROTOXIN 1; LYNX1", "OMIM:606111": "MELANIN-CONCENTRATING HORMONE RECEPTOR 2; MCHR2", "OMIM:606112": "RIBONUCLEASE P/MRP SUBUNIT p14; RPP14", "OMIM:606113": "POP7 HOMOLOG, RIBONUCLEASE P/MRP SUBUNIT; POP7", "OMIM:606114": "POP4 HOMOLOG, RIBONUCLEASE P/MRP SUBUNIT; POP4", "OMIM:606115": "RIBONUCLEASE P/MRP SUBUNIT p30; RPP30", "OMIM:606116": "RIBONUCLEASE P/MRP SUBUNIT p38; RPP38", "OMIM:606117": "RIBONUCLEASE P/MRP SUBUNIT p40; RPP40", "OMIM:606118": "HPS3 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 1; HPS3", "OMIM:606119": "SECRETED LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; SLURP1", "OMIM:606121": "CGRP RECEPTOR COMPONENT; CRCP", "OMIM:606122": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 19; TNFRSF19", "OMIM:606123": "RING FINGER PROTEIN 16; RNF16", "OMIM:606124": "TRIPARTITE MOTIF-CONTAINING PROTEIN 49; TRIM49", "OMIM:606125": "TRIPARTITE MOTIF-CONTAINING PROTEIN 8; TRIM8", "OMIM:606126": "BCL2-LIKE 14; BCL2L14", "OMIM:606127": "MYOCARDIN; MYOCD", "OMIM:606129": "DIAMOND-BLACKFAN ANEMIA 2; DBA2", "OMIM:606130": "RING FINGER PROTEIN 26; RNF26", "OMIM:606131": "TRIPARTITE MOTIF-CONTAINING PROTEIN 63; TRIM63", "OMIM:606132": "CDC42 EFFECTOR PROTEIN 2; CDC42EP2", "OMIM:606133": "CDC42 EFFECTOR PROTEIN 3; CDC42EP3", "OMIM:606134": "REV1 DNA-DIRECTED POLYMERASE; REV1", "OMIM:606135": "KALLIKREIN-RELATED PEPTIDASE 14; KLK14", "OMIM:606136": "RAS PROTEIN ACTIVATOR-LIKE 2; RASAL2", "OMIM:606137": "CELL GROWTH REGULATOR WITH EF-HAND DOMAIN 1; CGREF1", "OMIM:606138": "CELL GROWTH REGULATOR WITH RING FINGER DOMAIN 1; CGRRF1", "OMIM:606139": "KRUPPEL-LIKE FACTOR 16; KLF16", "OMIM:606140": "EXPORTIN 7; XPO7", "OMIM:606141": "RAN-BINDING PROTEIN 17; RANBP17", "OMIM:606142": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 9; SLC2A9", "OMIM:606143": "FRIZZLED CLASS RECEPTOR 3; FZD3", "OMIM:606144": "RAS-ASSOCIATED PROTEIN RAB23; RAB23", "OMIM:606145": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 10; SLC2A10", "OMIM:606146": "FRIZZLED CLASS RECEPTOR 8; FZD8", "OMIM:606147": "FRIZZLED CLASS RECEPTOR 10; FZD10", "OMIM:606148": "FATTY ACID DESATURASE 1; FADS1", "OMIM:606149": "FATTY ACID DESATURASE 2; FADS2", "OMIM:606150": "FATTY ACID DESATURASE 3; FADS3", "OMIM:606151": "BBS2 GENE; BBS2", "OMIM:606152": "SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 3; SLC19A3", "OMIM:606153": "ATP SYNTHASE F1, SUBUNIT EPSILON; ATP5F1E", "OMIM:606154": "MUCIN 16; MUC16", "OMIM:606156": "SENER SYNDROME", "OMIM:606157": "PANTOTHENATE KINASE 2; PANK2", "OMIM:606158": "BSCL2 GENE; BSCL2", "OMIM:606160": "PANTOTHENATE KINASE 1; PANK1", "OMIM:606161": "PANTOTHENATE KINASE 3; PANK3", "OMIM:606162": "PANTOTHENATE KINASE 4; PANK4", "OMIM:606165": "BOL-LIKE; BOLL", "OMIM:606167": "G PROTEIN-COUPLED RECEPTOR 132; GPR132", "OMIM:606168": "DEAD-BOX HELICASE 20; DDX20", "OMIM:606171": "tRNA SERINE (ANTICODON TGA) 2-1; TRS-TGA2-1", "OMIM:606172": "tRNA SERINE (ANTICODON TGA) 4-1; TRS-TGA4-1", "OMIM:606173": "GRPE-LIKE 1, MITOCHONDRIAL; GRPEL1", "OMIM:606174": "BACULUM, CONGENITAL ABSENCE OF", "OMIM:606175": "CARNITINE ACETYLTRANSFERASE DEFICIENCY", "OMIM:606177": "PARS PLANITIS", "OMIM:606178": "HEDGEHOG-INTERACTING PROTEIN; HHIP", "OMIM:606179": "ANEURYSMAL BONE CYSTS", "OMIM:606180": "EXOSOME COMPONENT 9; EXOSC9", "OMIM:606181": "DEAD-BOX HELICASE 24; DDX24", "OMIM:606182": "TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 9; TNFSF9", "OMIM:606183": "LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY", "OMIM:606184": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 12; ADAMTS12", "OMIM:606185": "TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 1; TP53INP1", "OMIM:606186": "CALCYCLIN-BINDING PROTEIN; CACYBP", "OMIM:606187": "ALZHEIMER DISEASE 7", "OMIM:606188": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 28; ADAM28", "OMIM:606189": "CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1", "OMIM:606190": "MENINGIOMA, RADIATION-INDUCED", "OMIM:606191": "FORMIN-BINDING PROTEIN 1; FNBP1", "OMIM:606192": "BUTYROPHILIN-LIKE PROTEIN 3; BTNL3", "OMIM:606193": "SOLUTE CARRIER FAMILY 13 (SODIUM/SULFATE SYMPORTER), MEMBER 1; SLC13A1", "OMIM:606194": "KERATIN 23, TYPE I; KRT23", "OMIM:606195": "IROQUOIS HOMEOBOX PROTEIN 5; IRX5", "OMIM:606196": "IROQUOIS HOMEOBOX PROTEIN 6; IRX6", "OMIM:606197": "IROQUOIS HOMEOBOX PROTEIN 1; IRX1", "OMIM:606198": "IROQUOIS HOMEOBOX PROTEIN 2; IRX2", "OMIM:606199": "IROQUOIS HOMEOBOX PROTEIN 4; IRX4", "OMIM:606200": "BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E41; BHLHE41", "OMIM:606201": "WOLFRAMIN ER TRANSMEMBRANE GLYCOPROTEIN; WFS1", "OMIM:606202": "SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2", "OMIM:606203": "GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2", "OMIM:606204": "LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS D; LY6D", "OMIM:606205": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, L-PROLINE), MEMBER 7; SLC6A7", "OMIM:606206": "METALLOTHIONEIN 4; MT4", "OMIM:606207": "SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC28A1", "OMIM:606208": "SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC28A2", "OMIM:606209": "YKT6 v-SNARE HOMOLOG; YKT6", "OMIM:606210": "SELENOPROTEIN N; SELENON", "OMIM:606211": "SIRTUIN 6; SIRT6", "OMIM:606212": "SIRTUIN 7; SIRT7", "OMIM:606213": "SIGNAL SEQUENCE RECEPTOR, GAMMA; SSR3", "OMIM:606214": "SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4", "OMIM:606215": "ATRIOVENTRICULAR SEPTAL DEFECT; AVSD", "OMIM:606216": "METHIONINE SULFOXIDE REDUCTASE B1; MSRB1", "OMIM:606218": "SELENOPHOSPHATE SYNTHETASE 2; SEPHS2", "OMIM:606219": "TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; TRAP1", "OMIM:606221": "IKAROS FAMILY ZINC FINGER 3; IKZF3", "OMIM:606222": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 6; IGSF6", "OMIM:606223": "PROTEASOME 26S SUBUNIT, NON-ATPASE, 2; PSMD2", "OMIM:606224": "5-PRIME-NUCLEOTIDASE, CYTOSOLIC IIIA; NT5C3A", "OMIM:606225": "TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1", "OMIM:606226": "TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2", "OMIM:606227": "MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP", "OMIM:606228": "ARGONAUTE RISC COMPONENT 1; AGO1", "OMIM:606229": "ARGONAUTE RISC COMPONENT 2; AGO2", "OMIM:606230": "SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3", "OMIM:606231": "ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE ZIPPER-CONTAINING PROTEIN 2; APPL2", "OMIM:606233": "PROKINETICIN 1; PROK1", "OMIM:606234": "IKAROS FAMILY ZINC FINGER 2; IKZF2", "OMIM:606235": "THIOREDOXIN REDUCTASE 3; TXNRD3", "OMIM:606236": "ASPSCR1 TETHER FOR SLC2A4, UBX DOMAIN-CONTAINING; ASPSCR1", "OMIM:606237": "TRANSFORMING GROWTH FACTOR-BETA RECEPTOR-ASSOCIATED PROTEIN 1; TGFBRAP1", "OMIM:606238": "IKAROS FAMILY ZINC FINGER 5; IKZF5", "OMIM:606239": "IKAROS FAMILY ZINC FINGER 4; IKZF4", "OMIM:606241": "DICER 1, RIBONUCLEASE III; DICER1", "OMIM:606244": "SIGNAL-TRANSDUCING ADAPTOR MOLECULE 2; STAM2", "OMIM:606245": "SUZ12 POLYCOMB REPRESSIVE COMPLEX 2 SUBUNIT; SUZ12", "OMIM:606246": "JAZF ZINC FINGER 1; JAZF1", "OMIM:606247": "STAM-BINDING PROTEIN; STAMBP", "OMIM:606248": "QUINOLINATE PHOSPHORIBOSYLTRANSFERASE; QPRT", "OMIM:606249": "PROTEIN KINASE, LYSINE-DEFICIENT 2; WNK2", "OMIM:606250": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 8; GALNT8", "OMIM:606251": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 9; GALNT9", "OMIM:606252": "TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP", "OMIM:606254": "SELENOPROTEIN F; SELENOF", "OMIM:606255": "STATURE AS A QUANTITATIVE TRAIT", "OMIM:606256": "STATURE QUANTITATIVE TRAIT LOCUS 2; STQTL2", "OMIM:606257": "STATURE QUANTITATIVE TRAIT LOCUS 3; STQTL3", "OMIM:606258": "STATURE QUANTITATIVE TRAIT LOCUS 4; STQTL4", "OMIM:606259": "BRMS1 TRANSCRIPTIONAL REPRESSOR AND ANOIKIS REGULATOR; BRMS1", "OMIM:606260": "MYOTUBULARIN-RELATED PROTEIN 9; MTMR9", "OMIM:606261": "NUDIX HYDROLASE 6; NUDT6", "OMIM:606264": "C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A", "OMIM:606265": "E1A-BINDING PROTEIN, 400-KD; EP400", "OMIM:606266": "BCL2-MODIFYING FACTOR; BMF", "OMIM:606267": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 16; WNT16", "OMIM:606268": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A", "OMIM:606269": "TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13C; TNFRSF13C", "OMIM:606270": "TOLL-LIKE RECEPTOR 10; TLR10", "OMIM:606271": "DISRUPTED IN SCHIZOPHRENIA 2; DISC2", "OMIM:606272": "CYSTINOSIN; CTNS", "OMIM:606273": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3", "OMIM:606274": "CASEIN KINASE I, GAMMA-1; CSNK1G1", "OMIM:606276": "CARTILAGE ACIDIC PROTEIN 1; CRTAC1", "OMIM:606277": "TOLL-INTERACTING PROTEIN; TOLLIP", "OMIM:606278": "F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7", "OMIM:606279": "ABI FAMILY MEMBER 3 BINDING PROTEIN; ABI3BP", "OMIM:606280": "NON-SMC CONDENSIN I COMPLEX SUBUNIT G; NCAPG", "OMIM:606281": "RAS-ASSOCIATED PROTEIN RAB38; RAB38", "OMIM:606283": "SORTILIN-RELATED VPS10 DOMAIN-CONTAINING RECEPTOR 1; SORCS1", "OMIM:606284": "SORTILIN-RELATED VPS10 DOMAIN-CONTAINING RECEPTOR 2; SORCS2", "OMIM:606285": "SORTILIN-RELATED VPS10 DOMAIN-CONTAINING RECEPTOR 3; SORCS3", "OMIM:606286": "DEAD-BOX HELICASE 43; DDX43", "OMIM:606288": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 1; PCDHGA1", "OMIM:606289": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 2; PCDHGA2", "OMIM:606290": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 3; PCDHGA3", "OMIM:606291": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 4; PCDHGA4", "OMIM:606292": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 5; PCDHGA5", "OMIM:606293": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 6; PCDHGA6", "OMIM:606294": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 7; PCDHGA7", "OMIM:606295": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 8; PCDHGA8", "OMIM:606296": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 9; PCDHGA9", "OMIM:606297": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 10; PCDHGA10", "OMIM:606298": "PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 11; PCDHGA11", "OMIM:606299": "PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 1; PCDHGB1", "OMIM:606300": "PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 2; PCDHGB2", "OMIM:606301": "PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 3; PCDHGB3", "OMIM:606302": "PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 5; PCDHGB5", "OMIM:606303": "PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 6; PCDHGB6", "OMIM:606304": "PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 7; PCDHGB7", "OMIM:606305": "PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 4; PCDHGC4", "OMIM:606306": "PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 5; PCDHGC5", "OMIM:606307": "PROTOCADHERIN-ALPHA 1; PCDHA1", "OMIM:606308": "PROTOCADHERIN-ALPHA 2; PCDHA2", "OMIM:606309": "PROTOCADHERIN-ALPHA 3; PCDHA3", "OMIM:606310": "PROTOCADHERIN-ALPHA 4; PCDHA4", "OMIM:606311": "PROTOCADHERIN-ALPHA 5; PCDHA5", "OMIM:606312": "PROTOCADHERIN-ALPHA 6; PCDHA6", "OMIM:606313": "PROTOCADHERIN-ALPHA 7; PCDHA7", "OMIM:606314": "PROTOCADHERIN-ALPHA 8; PCDHA8", "OMIM:606315": "PROTOCADHERIN-ALPHA 9; PCDHA9", "OMIM:606316": "PROTOCADHERIN-ALPHA 10; PCDHA10", "OMIM:606317": "PROTOCADHERIN-ALPHA 11; PCDHA11", "OMIM:606318": "PROTOCADHERIN-ALPHA 12; PCDHA12", "OMIM:606319": "PROTOCADHERIN-ALPHA 13; PCDHA13", "OMIM:606320": "PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 1; PCDHAC1", "OMIM:606321": "PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 2; PCDHAC2", "OMIM:606322": "CYTOPLASMIC FMRP-INTERACTING PROTEIN 1; CYFIP1", "OMIM:606323": "CYTOPLASMIC FMRP-INTERACTING PROTEIN 2; CYFIP2", "OMIM:606325": "HETEROTAXY, VISCERAL, 3, AUTOSOMAL; HTX3", "OMIM:606326": "SIX HOMEOBOX 6; SIX6", "OMIM:606327": "PROTOCADHERIN-BETA 1; PCDHB1", "OMIM:606328": "PROTOCADHERIN-BETA 2; PCDHB2", "OMIM:606329": "PROTOCADHERIN-BETA 3; PCDHB3", "OMIM:606330": "PROTOCADHERIN-BETA 4; PCDHB4", "OMIM:606331": "PROTOCADHERIN-BETA 5; PCDHB5", "OMIM:606332": "PROTOCADHERIN-BETA 6; PCDHB6", "OMIM:606333": "PROTOCADHERIN-BETA 7; PCDHB7", "OMIM:606334": "PROTOCADHERIN-BETA 8; PCDHB8", "OMIM:606335": "PROTOCADHERIN-BETA 9; PCDHB9", "OMIM:606336": "PROTOCADHERIN-BETA 10; PCDHB10", "OMIM:606337": "PROTOCADHERIN-BETA 11; PCDHB11", "OMIM:606338": "PROTOCADHERIN-BETA 12; PCDHB12", "OMIM:606339": "PROTOCADHERIN-BETA 13; PCDHB13", "OMIM:606340": "PROTOCADHERIN-BETA 14; PCDHB14", "OMIM:606341": "PROTOCADHERIN-BETA 15; PCDHB15", "OMIM:606342": "SIX HOMEOBOX 4; SIX4", "OMIM:606343": "POLYMERASE, DNA, LAMBDA; POLL", "OMIM:606344": "POLYMERASE, DNA, MU; POLM", "OMIM:606345": "PROTOCADHERIN-BETA 16; PCDHB16", "OMIM:606347": "PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 1; PSTPIP1", "OMIM:606348": "INFLAMMATORY BOWEL DISEASE 5; IBD5", "OMIM:606349": "GAMBLING, PATHOLOGIC", "OMIM:606350": "APRATAXIN; APTX", "OMIM:606351": "ESPIN; ESPN", "OMIM:606352": "ALSIN RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR ALS2; ALS2", "OMIM:606355": "DEAD-BOX HELICASE 18; DDX18", "OMIM:606356": "TRANSMEMBRANE PROTEIN 123; TMEM123", "OMIM:606357": "DExD-BOX HELICASE 21; DDX21", "OMIM:606358": "ANTERIOR GRADIENT 2, PROTEIN DISULPHIDE ISOMERASE FAMILY MEMBER; AGR2", "OMIM:606359": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A", "OMIM:606360": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8A; WNT8A", "OMIM:606361": "WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5B; WNT5B", "OMIM:606362": "ACID PHOSPHATASE 4; ACP4", "OMIM:606363": "ABI FAMILY MEMBER 3; ABI3", "OMIM:606365": "GLUTAMINASE 2; GLS2", "OMIM:606366": "RAS HOMOLOG GENE FAMILY, MEMBER U; RHOU", "OMIM:606368": "APOLIPOPROTEIN A-V; APOA5", "OMIM:606369": "MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY", "OMIM:606370": "THIAMINE PYROPHOSPHOKINASE; TPK1", "OMIM:606371": "ACTIVATING TRANSCRIPTION FACTOR 7; ATF7", "OMIM:606372": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 10; CHRNA10", "OMIM:606373": "FORMIN 2; FMN2", "OMIM:606374": "BETA-1,3-GLUCURONYLTRANSFERASE 3; B3GAT3", "OMIM:606376": "CARBOHYDRATE SULFOTRANSFERASE 10; CHST10", "OMIM:606377": "DIMERIC DIHYDRODIOL DEHYDROGENASE; DHDH", "OMIM:606378": "ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 4; ST6GALNAC4", "OMIM:606379": "G PROTEIN-COUPLED RECEPTOR 87; GPR87", "OMIM:606380": "PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 13; P2RY13", "OMIM:606381": "SUCCINATE RECEPTOR 1; SUCNR1", "OMIM:606382": "MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 2; MAGI2", "OMIM:606383": "G PROTEIN-COUPLED RECEPTOR 84; GPR84", "OMIM:606384": "UBIQUITIN PROTEIN LIGASE NEDD4-LIKE; NEDD4L", "OMIM:606385": "OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 1; OLIG1", "OMIM:606386": "OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2", "OMIM:606387": "TOPOISOMERASE I, MITOCHONDRIAL; TOP1MT", "OMIM:606388": "THIOESTERASE SUPERFAMILY MEMBER 4; THEM4", "OMIM:606389": "CATION CHANNEL, SPERM-ASSOCIATED, 1; CATSPER1", "OMIM:606393": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN-LIKE PROTEIN DECYSIN 1; ADAMDEC1", "OMIM:606395": "PROLACTIN REGULATORY ELEMENT-BINDING PROTEIN; PREB", "OMIM:606396": "BRIDGING INTEGRATOR 3; BIN3", "OMIM:606397": "CLARIN 1; CLRN1", "OMIM:606398": "ACTIVATING TRANSCRIPTION FACTOR 5; ATF5", "OMIM:606399": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 3; CACNA2D3", "OMIM:606400": "CALPAIN 7; CAPN7", "OMIM:606401": "CALPAIN 9; CAPN9", "OMIM:606402": "GASTROKINE 1; GKN1", "OMIM:606403": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-3 SUBUNIT; CACNG3", "OMIM:606404": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-4 SUBUNIT; CACNG4", "OMIM:606405": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-5 SUBUNIT; CACNG5", "OMIM:606406": "NUCLEAR PORE COMPLEX-INTERACTING PROTEIN FAMILY, MEMBER A1; NPIPA1", "OMIM:606409": "ITCHY E3 UBIQUITIN PROTEIN LIGASE; ITCH", "OMIM:606410": "ANTHRAX TOXIN RECEPTOR 1; ANTXR1", "OMIM:606411": "SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 3; SLC13A3", "OMIM:606412": "BARTTIN CLCNK-TYPE ACCESSORY SUBUNIT BETA; BSND", "OMIM:606413": "INSULIN-LIKE 5; INSL5", "OMIM:606414": "INSULIN-LIKE 6; INSL6", "OMIM:606416": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; NLRP3", "OMIM:606417": "WD REPEAT-CONTAINING PROTEIN 11; WDR11", "OMIM:606418": "24-DEHYDROCHOLESTEROL REDUCTASE; DHCR24", "OMIM:606419": "PRE-mRNA-PROCESSING FACTOR 31; PRPF31", "OMIM:606420": "ENGULFMENT AND CELL MOTILITY GENE 1; ELMO1", "OMIM:606421": "ENGULFMENT AND CELL MOTILITY GENE 2; ELMO2", "OMIM:606422": "ENGULFMENT AND CELL MOTILITY GENE 3; ELMO3", "OMIM:606423": "DISRUPTED IN RENAL CARCINOMA 1; DIRC1", "OMIM:606424": "EGL9 FAMILY HYPOXIA-INDUCIBLE FACTOR 2; EGLN2", "OMIM:606425": "EGL9 FAMILY HYPOXIA-INDUCIBLE FACTOR 1; EGLN1", "OMIM:606426": "EGL9 FAMILY HYPOXIA-INDUCIBLE FACTOR 3; EGLN3", "OMIM:606427": "ZINC FINGER PROTEIN 320; ZNF320", "OMIM:606428": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A3; UGT1A3", "OMIM:606429": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A4; UGT1A4", "OMIM:606430": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A5; UGT1A5", "OMIM:606431": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A6; UGT1A6", "OMIM:606432": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A7; UGT1A7", "OMIM:606433": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A8; UGT1A8", "OMIM:606434": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A9; UGT1A9", "OMIM:606435": "UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A10; UGT1A10", "OMIM:606436": "SYNAPTOTAGMIN 12; SYT12", "OMIM:606439": "ATLASTIN GTPase 1; ATL1", "OMIM:606440": "STEREOCILIN; STRC", "OMIM:606441": "HTRA SERINE PEPTIDASE 2; HTRA2", "OMIM:606442": "ABL INTERACTOR 2; ABI2", "OMIM:606443": "cAMP RESPONSE ELEMENT-BINDING PROTEIN 3; CREB3", "OMIM:606444": "CREB/ATF BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR; CREBZF", "OMIM:606446": "SLAM FAMILY, MEMBER 6; SLAMF6", "OMIM:606447": "RNA-BINDING PROTEIN S1; RNPS1", "OMIM:606448": "THIOREDOXIN REDUCTASE 2; TXNRD2", "OMIM:606449": "PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 3; PTP4A3", "OMIM:606450": "NEUROEPITHELIAL CELL TRANSFORMING GENE 1; NET1", "OMIM:606452": "ZINC FINGER, MATRIN-TYPE 3; ZMAT3", "OMIM:606453": "LIPOPOLYSACCHARIDE-RESPONSIVE, BEIGE-LIKE ANCHOR PROTEIN; LRBA", "OMIM:606454": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2", "OMIM:606455": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13B; PPP1R13B", "OMIM:606456": "NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 3; NPM3", "OMIM:606457": "INHIBITOR OF BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; IBTK", "OMIM:606458": "CYSTEINE- AND SERINE-RICH NUCLEAR PROTEIN 1; CSRNP1", "OMIM:606459": "OPIOID GROWTH FACTOR RECEPTOR; OGFR", "OMIM:606460": "LONGEVITY 2", "OMIM:606461": "TRIMETHYLGUANOSINE SYNTHASE 1; TGS1", "OMIM:606462": "RAD21 COHESIN COMPLEX COMPONENT; RAD21", "OMIM:606463": "GLUCOSIDASE, BETA, ACID; GBA", "OMIM:606464": "HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP", "OMIM:606465": "KRUPPEL-LIKE FACTOR 15; KLF15", "OMIM:606466": "PML-RARA REGULATED ADAPTOR MOLECULE 1; PRAM1", "OMIM:606467": "ALDEHYDE DEHYDROGENASE 8 FAMILY, MEMBER A1; ALDH8A1", "OMIM:606468": "GAR1 RIBONUCLEOPROTEIN; GAR1", "OMIM:606469": "RING FINGER PROTEIN 29; RNF29", "OMIM:606470": "NHP2 RIBONUCLEOPROTEIN; NHP2", "OMIM:606471": "NOP10 RIBONUCLEOPROTEIN; NOP10", "OMIM:606472": "SS18L1 SUBUNIT OF BAF CHROMATIN REMODELING COMPLEX; SS18L1", "OMIM:606473": "SS18-LIKE GENE 2; SS18L2", "OMIM:606474": "RING FINGER PROTEIN 30; RNF30", "OMIM:606475": "CD320 ANTIGEN; CD320", "OMIM:606476": "INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC", "OMIM:606477": "SERINE RACEMASE; SRR", "OMIM:606478": "PROTECTION OF TELOMERES 1; POT1", "OMIM:606479": "NEUROLIGIN 2; NLGN2", "OMIM:606480": "ZINC METALLOPROTEINASE STE24; ZMPSTE24", "OMIM:606481": "INOSITOL POLYPHOSPHATE 5-PHOSPHATASE J; INPP5J", "OMIM:606484": "MYOTROPHIN; MTPN", "OMIM:606485": "POLYMERASE II, RNA, SUBUNIT M; POLR2M", "OMIM:606486": "CHARGED MULTIVESICULAR BODY PROTEIN 1B; CHMP1B", "OMIM:606487": "PHOSPHOLIPASE A AND ACETYLTRANSFERASE 1; PLAAT1", "OMIM:606488": "EXOSOME COMPONENT 7; EXOSC7", "OMIM:606489": "EXOSOME COMPONENT 3; EXOSC3", "OMIM:606490": "EXOSOME COMPONENT 6; EXOSC6", "OMIM:606491": "EXOSOME COMPONENT 4; EXOSC4", "OMIM:606492": "EXOSOME COMPONENT 5; EXOSC5", "OMIM:606493": "EXOSOME COMPONENT 1; EXOSC1", "OMIM:606494": "ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3; ST3GAL3", "OMIM:606495": "MAP/MICROTUBULE AFFINITY-REGULATING KINASE 4; MARK4", "OMIM:606496": "INTERLEUKIN 17F; IL17F", "OMIM:606497": "URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B28; UGT2B28", "OMIM:606498": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 3; MS4A3", "OMIM:606499": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 5; MS4A5", "OMIM:606500": "SECRETOGLOBIN, FAMILY 3A, MEMBER 1; SCGB3A1", "OMIM:606501": "MYOTUBULARIN-RELATED PROTEIN 12; MTMR12", "OMIM:606502": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 7; MS4A7", "OMIM:606503": "SUV39H2 HISTONE LYSINE METHYLTRANSFERASE; SUV39H2", "OMIM:606504": "CANCER SUSCEPTIBILITY CANDIDATE 3; CASC3", "OMIM:606505": "PIN2-INTERACTING PROTEIN 1; PINX1", "OMIM:606508": "Fc RECEPTOR-LIKE PROTEIN 1; FCRL1", "OMIM:606509": "Fc RECEPTOR-LIKE PROTEIN 2; FCRL2", "OMIM:606510": "Fc RECEPTOR-LIKE PROTEIN 3; FCRL3", "OMIM:606511": "MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1; MARK1", "OMIM:606512": "PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 1; PACSIN1", "OMIM:606513": "PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 3; PACSIN3", "OMIM:606514": "CYTOHESIN 4; CYTH4", "OMIM:606515": "RNA, 7SK, SMALL NUCLEAR; RN7SK", "OMIM:606516": "MUSCLEBLIND-LIKE SPLICING REGULATOR 1; MBNL1", "OMIM:606517": "ARYLHYDROCARBON RECEPTOR REPRESSOR; AHRR", "OMIM:606518": "HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1", "OMIM:606520": "MEGAKARYOCYTE AND PLATELET INHIBITORY RECEPTOR G6B; MPIG6B", "OMIM:606521": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL THIAMINE PYROPHOSPHATE CARRIER), MEMBER 19; SLC25A19", "OMIM:606522": "GROWTH/DIFFERENTIATION FACTOR 3; GDF3", "OMIM:606523": "SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 1; SRGAP1", "OMIM:606524": "SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2; SRGAP2", "OMIM:606525": "SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 3; SRGAP3", "OMIM:606526": "MELANOPHILIN; MLPH", "OMIM:606527": "MEGARBANE SYNDROME", "OMIM:606529": "CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE", "OMIM:606530": "CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1", "OMIM:606531": "SECRETOGLOBIN, FAMILY 3A, MEMBER 2; SCGB3A2", "OMIM:606532": "HORMONALLY UPREGULATED NEU-ASSOCIATED KINASE; HUNK", "OMIM:606533": "CHLORIDE INTRACELLULAR CHANNEL 3; CLIC3", "OMIM:606534": "CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 43; CYP3A43", "OMIM:606535": "MYC-BINDING PROTEIN; MYCBP", "OMIM:606536": "CHLORIDE INTRACELLULAR CHANNEL 4; CLIC4", "OMIM:606537": "MYOSIN IB; MYO1B", "OMIM:606538": "MYOSIN IC; MYO1C", "OMIM:606539": "MYOSIN ID; MYO1D", "OMIM:606540": "MYOSIN VB; MYO5B", "OMIM:606541": "MYOSIN VIIB; MYO7B", "OMIM:606542": "HISTONE DEACETYLASE 7A; HDAC7A", "OMIM:606543": "HISTONE DEACETYLASE 9; HDAC9", "OMIM:606544": "MITOCHONDRIAL ELONGATION FACTOR G2; GFM2", "OMIM:606546": "HYDATIDIFORM MOLE-ASSOCIATED AND IMPRINTED TRANSCRIPT; HYMAI", "OMIM:606547": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 4A; MS4A4A", "OMIM:606548": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 6A; MS4A6A", "OMIM:606549": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 8B; MS4A8B", "OMIM:606550": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 12; MS4A12", "OMIM:606551": "LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 1; LZTS1", "OMIM:606553": "SOLUTE CARRIER FAMILY 9, MEMBER 3, REGULATOR 2; SLC9A3R2", "OMIM:606555": "TRIPARTITE MOTIF-CONTAINING PROTEIN 9; TRIM9", "OMIM:606556": "TRIPARTITE MOTIF-CONTAINING PROTEIN 14; TRIM14", "OMIM:606557": "BAF CHROMATIN REMODELING COMPLEX SUBUNIT BCL11A; BCL11A", "OMIM:606558": "BAF CHROMATIN REMODELING COMPLEX SUBUNIT BCL11B; BCL11B", "OMIM:606559": "TRIPARTITE MOTIF-CONTAINING PROTEIN 22; TRIM22", "OMIM:606560": "SPERM-ASSOCIATED ANTIGEN 11B; SPAG11B", "OMIM:606561": "SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 1; SLC36A1", "OMIM:606562": "TRANSMEMBRANE 6 SUPERFAMILY, MEMBER 1; TM6SF1", "OMIM:606563": "TRANSMEMBRANE 6 SUPERFAMILY, MEMBER 2; TM6SF2", "OMIM:606564": "PROSTATE TRANSMEMBRANE PROTEIN, ANDROGEN-INDUCED; PMEPA1", "OMIM:606565": "TRANSMEMBRANE PROTEASE, SERINE 4; TMPRSS4", "OMIM:606566": "MYOSIN LIGHT CHAIN KINASE 2; MYLK2", "OMIM:606567": "TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 4; TM4SF4", "OMIM:606568": "LEUCINE ZIPPER TRANSCRIPTION FACTOR-LIKE 1; LZTFL1", "OMIM:606569": "SUPPRESSOR OF ACTIN MUTATIONS 1-LIKE; SACM1L", "OMIM:606570": "SECRETED FRIZZLED-RELATED PROTEIN 4; SFRP4", "OMIM:606571": "LOW DENSITY LIPOPROTEIN RECEPTOR CLASS A DOMAIN-CONTAINING PROTEIN 4; LDLRAD4", "OMIM:606572": "NADPH OXIDASE 5; NOX5", "OMIM:606573": "FYN-RELATED SRC FAMILY TYROSINE KINASE; FRK", "OMIM:606575": "MEMBRANE PROTEIN, PALMITOYLATED 4; MPP4", "OMIM:606576": "TAF3 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 140-KD; TAF3", "OMIM:606577": "SRC-LIKE ADAPTOR 2; SLA2", "OMIM:606578": "AQUAPORIN 10; AQP10", "OMIM:606580": "OUTER MITOCHONDRIAL MEMBRANE LIPID METABOLISM REGULATOR OPA3; OPA3", "OMIM:606581": "POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO; PSAB", "OMIM:606582": "DELTA-LIKE CANONICAL NOTCH LIGAND 1; DLL1", "OMIM:606583": "PEROXIREDOXIN 5; PRDX5", "OMIM:606584": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 23; PTPN23", "OMIM:606585": "ENAMELIN; ENAM", "OMIM:606586": "RETINOIC ACID-INDUCED 14; RAI14", "OMIM:606587": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 18; PTPN18", "OMIM:606588": "DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L", "OMIM:606589": "SORTING NEXIN 13; SNX13", "OMIM:606590": "NPL4 HOMOLOG, UBIQUITIN RECOGNITION FACTOR; NPLOC4", "OMIM:606591": "MUS81 STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT; MUS81", "OMIM:606592": "VANIN 3; VNN3", "OMIM:606594": "SET DOMAIN-CONTAINING PROTEIN 7; SETD7", "OMIM:606596": "FUKUTIN-RELATED PROTEIN; FKRP", "OMIM:606597": "PAIRED BOX GENE 3; PAX3", "OMIM:606598": "GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1", "OMIM:606599": "THIOREDOXIN-INTERACTING PROTEIN; TXNIP", "OMIM:606600": "RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 1; RASGRF1", "OMIM:606601": "ENDOGENOUS RETROVIRAL SEQUENCE E, 1; ERVE1", "OMIM:606602": "BRAIN AND ACUTE LEUKEMIA GENE, CYTOPLASMIC; BAALC", "OMIM:606603": "EDAR-ASSOCIATED DEATH DOMAIN; EDARADD", "OMIM:606604": "F-BOX ONLY PROTEIN 32; FBXO32", "OMIM:606605": "ATR-INTERACTING PROTEIN; ATRIP", "OMIM:606607": "PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7", "OMIM:606608": "YES1-ASSOCIATED TRANSCRIPTIONAL REGULATOR; YAP1", "OMIM:606609": "3-PRIME REPAIR EXONUCLEASE 1; TREX1", "OMIM:606610": "NSFL1 COFACTOR; NSFL1C", "OMIM:606611": "DEFENSIN, BETA, 103A; DEFB103A", "OMIM:606613": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; HDLCQ1", "OMIM:606614": "RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 2; RASGRF2", "OMIM:606615": "HYPOXIA-INDUCIBLE FACTOR 1-ALPHA INHIBITOR; HIF1AN", "OMIM:606616": "DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6", "OMIM:606618": "DUAL-SPECIFICITY PHOSPHATASE 14; DUSP14", "OMIM:606619": "GLUCOSIDASE, BETA, ACID 3; GBA3", "OMIM:606620": "SLAM FAMILY, MEMBER 8; SLAMF8", "OMIM:606621": "INTRAFLAGELLAR TRANSPORT 57; IFT57", "OMIM:606622": "SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1; SMARCAL1", "OMIM:606623": "17-BETA-HYDROXYSTEROID DEHYDROGENASE VI; HSD17B6", "OMIM:606624": "NEUROGENIN 2; NEUROG2", "OMIM:606625": "SLAM FAMILY, MEMBER 7; SLAMF7", "OMIM:606626": "DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 1; DAAM1", "OMIM:606627": "DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 2; DAAM2", "OMIM:606628": "GLYCINE N-METHYLTRANSFERASE; GNMT", "OMIM:606629": "PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1", "OMIM:606630": "PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 2; RIMS2", "OMIM:606632": "ODOR, MALE, WOMEN'S CHOICE OF", "OMIM:606633": "TRANSCRIPTION FACTOR Sp7; SP7", "OMIM:606634": "DERMCIDIN; DCD", "OMIM:606635": "TRANSMEMBRANE PROTEASE, SERINE 15; TMPRSS15", "OMIM:606636": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1", "OMIM:606637": "PEPTIDE YY, 2; PYY2", "OMIM:606638": "PANCREATIC POLYPEPTIDE 2; PPY2", "OMIM:606639": "MITOCHONDRIAL ELONGATION FACTOR G1; GFM1", "OMIM:606641": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 1; BMIQ1", "OMIM:606643": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2; BMIQ2", "OMIM:606644": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 8; IGSF8", "OMIM:606645": "ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 2; ARAP2", "OMIM:606646": "ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; ARAP1", "OMIM:606647": "ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 3; ARAP3", "OMIM:606648": "INTERLEUKIN 22 RECEPTOR, ALPHA-2; IL22RA2", "OMIM:606649": "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 3; HIVEP3", "OMIM:606650": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A", "OMIM:606651": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B", "OMIM:606652": "HEPATITIS A VIRUS CELLULAR RECEPTOR 2; HAVCR2", "OMIM:606653": "LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 6; LGR6", "OMIM:606654": "RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 1; RXFP1", "OMIM:606655": "RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 2; RXFP2", "OMIM:606657": "GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO", "OMIM:606659": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8B; TIMM8B", "OMIM:606660": "MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1; UVM1", "OMIM:606661": "MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2; UVM2", "OMIM:606662": "WAARDENBURG SYNDROME, TYPE 2C; WS2C", "OMIM:606663": "LYSYL OXIDASE-LIKE 2; LOXL2", "OMIM:606665": "OPSIN 4; OPN4", "OMIM:606666": "LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 4; LGR4", "OMIM:606667": "LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 5; LGR5", "OMIM:606668": "INFLAMMATORY BOWEL DISEASE 8; IBD8", "OMIM:606669": "FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 5; FXYD5", "OMIM:606670": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 11; PPP1R11", "OMIM:606671": "NCK-INTERACTING PROTEIN WITH SH3 DOMAIN; NCKIPSD", "OMIM:606672": "GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA", "OMIM:606673": "BETA-UREIDOPROPIONASE; UPB1", "OMIM:606674": "INFLAMMATORY BOWEL DISEASE 6; IBD6", "OMIM:606675": "INFLAMMATORY BOWEL DISEASE 4; IBD4", "OMIM:606676": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 2; TRPV2", "OMIM:606677": "C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER C; CLEC4C", "OMIM:606678": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8; TRPM8", "OMIM:606679": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5; TRPV5", "OMIM:606680": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 6; TRPV6", "OMIM:606681": "NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1", "OMIM:606682": "HPS4 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 2; HPS4", "OMIM:606683": "FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 6; FXYD6", "OMIM:606684": "FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 7; FXYD7", "OMIM:606686": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1; EIF2B1", "OMIM:606687": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4", "OMIM:606689": "GLAUCOMA 1, OPEN ANGLE, B; GLC1B", "OMIM:606691": "CEA CELL ADHESION MOLECULE 19; CEACAM19", "OMIM:606692": "TNF RECEPTOR-ASSOCIATED FACTOR 7; TRAF7", "OMIM:606694": "NUCLEOPORIN, 155-KD; NUP155", "OMIM:606695": "OPSIN 3; OPN3", "OMIM:606696": "KATANIN, p60 SUBUNIT, A1; KATNA1", "OMIM:606697": "ZINC FINGER PROTEIN 443; ZNF443", "OMIM:606698": "SRY-BOX 30; SOX30", "OMIM:606699": "HELICASE WITH ZINC FINGER DOMAIN; HELZ", "OMIM:606700": "MIDNOLIN; MIDN", "OMIM:606701": "DORSAL ROOT GANGLIA HOMEOBOX; DRGX", "OMIM:606702": "PKHD1 CILIARY IPT DOMAIN-CONTAINING FIBROCYSTIN/POLYDUCTIN; PKHD1", "OMIM:606704": "G PROTEIN-COUPLED RECEPTOR 75; GPR75", "OMIM:606706": "TRANSMEMBRANE CHANNEL-LIKE PROTEIN 1; TMC1", "OMIM:606707": "TRANSMEMBRANE CHANNEL-LIKE PROTEIN 2; TMC2", "OMIM:606708": "SPLIT-HAND/FOOT MALFORMATION 5; SHFM5", "OMIM:606709": "PROTEASE, SERINE, 12; PRSS12", "OMIM:606710": "LHFPL TETRASPAN SUBFAMILY, MEMBER 6; LHFPL6", "OMIM:606714": "PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 1; PNRC1", "OMIM:606715": "ACID-SENSING ION CHANNEL, SUBUNIT 4; ASIC4", "OMIM:606716": "N-ACETYLTRANSFERASE 8; NAT8", "OMIM:606717": "XIAP-ASSOCIATED FACTOR 1; XAF1", "OMIM:606718": "SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2", "OMIM:606720": "ENDONUCLEASE, POLY(U)-SPECIFIC; ENDOU", "OMIM:606722": "NEUROCALCIN, DELTA; NCALD", "OMIM:606723": "MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 5; MAPKAPK5", "OMIM:606724": "MITOGEN-ACTIVATED PROTEIN KINASE-INTERACTING SERINE/THREONINE KINASE 1; MKNK1", "OMIM:606725": "CLN6 TRANSMEMBRANE ER PROTEIN; CLN6", "OMIM:606726": "SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 5; SLC12A5", "OMIM:606727": "NK2 HOMEOBOX 3; NKX2-3", "OMIM:606728": "CAVEOLAE-ASSOCIATED PROTEIN 2; CAVIN2", "OMIM:606729": "OXYSTEROL-BINDING PROTEIN 2; OSBP2", "OMIM:606730": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 1A; OSBPL1A", "OMIM:606731": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 2; OSBPL2", "OMIM:606732": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 3; OSBPL3", "OMIM:606733": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 5; OSBPL5", "OMIM:606734": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 6; OSBPL6", "OMIM:606735": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 7; OSBPL7", "OMIM:606736": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 8; OSBPL8", "OMIM:606737": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 9; OSBPL9", "OMIM:606738": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 10; OSBPL10", "OMIM:606739": "OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 11; OSBPL11", "OMIM:606740": "ZINC FINGER PROTEIN 180; ZNF180", "OMIM:606741": "ZINC FINGER PROTEIN 181; ZNF181", "OMIM:606742": "TOLLOID-LIKE 1; TLL1", "OMIM:606743": "TOLLOID-LIKE 2; TLL2", "OMIM:606745": "PAR3 FAMILY CELL POLARITY REGULATOR; PARD3", "OMIM:606746": "MYELOID-DERIVED GROWTH FACTOR; MYDGF", "OMIM:606747": "VASCULAR ENDOTHELIAL ZINC FINGER 1; VEZF1", "OMIM:606748": "COACTOSIN-LIKE PROTEIN 1; COTL1", "OMIM:606749": "TUBULOINTERSTITIAL NEPHRITIS ANTIGEN; TINAG", "OMIM:606750": "Z-DNA BINDING PROTEIN 1; ZBP1", "OMIM:606751": "TRANSMEMBRANE PROTEASE, SERINE 5; TMPRSS5", "OMIM:606752": "ACUTE HEMORRHAGIC LEUKOENCEPHALITIS", "OMIM:606753": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 4; TTC4", "OMIM:606754": "SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1; SAMHD1", "OMIM:606755": "PEPTIDYLARGININE DEIMINASE, TYPE III; PADI3", "OMIM:606756": "17-BETA-HYDROXYSTEROID DEHYDROGENASE VII; HSD17B7", "OMIM:606757": "SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 5; SLC4A5", "OMIM:606758": "DUAL OXIDASE 1; DUOX1", "OMIM:606759": "DUAL OXIDASE 2; DUOX2", "OMIM:606761": "MALONYL-CoA DECARBOXYLASE; MLYCD", "OMIM:606765": "THYROID PEROXIDASE; TPO", "OMIM:606767": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 3; KCNG3", "OMIM:606769": "HELICASE, POLQ-LIKE; HELQ", "OMIM:606770": "ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2", "OMIM:606771": "ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3", "OMIM:606773": "HEMIFACIAL MYOHYPERPLASIA; HFMH", "OMIM:606774": "MYOINOSITOL OXYGENASE; MIOX", "OMIM:606775": "CHONDROITIN SULFATE PROTEOGLYCAN 5; CSPG5", "OMIM:606776": "TRANSGLUTAMINASE 7; TGM7", "OMIM:606778": "SLINGSHOT PROTEIN PHOSPHATASE 1; SSH1", "OMIM:606779": "SLINGSHOT PROTEIN PHOSPHATASE 2; SSH2", "OMIM:606780": "SLINGSHOT PROTEIN PHOSPHATASE 3; SSH3", "OMIM:606781": "TRANSKETOLASE; TKT", "OMIM:606782": "C-TYPE LECTIN DOMAIN FAMILY 1, MEMBER A; CLEC1A", "OMIM:606783": "C-TYPE LECTIN DOMAIN FAMILY 1, MEMBER B; CLEC1B", "OMIM:606784": "GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A", "OMIM:606786": "CD300C ANTIGEN; CD300C", "OMIM:606787": "PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1", "OMIM:606788": "ANOREXIA NERVOSA, SUSCEPTIBILITY TO; ANON", "OMIM:606789": "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4", "OMIM:606790": "CD300A ANTIGEN; CD300A", "OMIM:606791": "TRANSMEMBRANE PHOSPHOINOSITIDE 3-PHOSPHATASE AND TENSIN HOMOLOG 2; TPTE2", "OMIM:606792": "HISTAMINE RECEPTOR H4; HRH4", "OMIM:606793": "AMINOPEPTIDASE, PUROMYCIN-SENSITIVE; NPEPPS", "OMIM:606794": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 10; SLC25A10", "OMIM:606795": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 17; SLC25A17", "OMIM:606796": "SUPPRESSION OF TUMORIGENICITY 13; ST13", "OMIM:606797": "ST14 TRANSMEMBRANE SERINE PROTEASE MATRIPTASE; ST14", "OMIM:606799": "STROKE, SUSCEPTIBILITY TO, 1", "OMIM:606800": "GLUCOSIDASE, ALPHA, ACID; GAA", "OMIM:606801": "MACROPHAGE ERYTHROBLAST ATTACHER; MAEA", "OMIM:606802": "SPIB TRANSCRIPTION FACTOR; SPIB", "OMIM:606803": "ACYL-CoA THIOESTERASE 11; ACOT11", "OMIM:606804": "GOLGI MEMBRANE PROTEIN 1; GOLM1", "OMIM:606805": "GOLGI INTEGRAL MEMBRANE PROTEIN 4; GOLIM4", "OMIM:606806": "FORMIMINOTRANSFERASE CYCLODEAMINASE; FTCD", "OMIM:606807": "INTERLEUKIN 17 RECEPTOR D; IL17RD", "OMIM:606808": "MYOSIN IIIA; MYO3A", "OMIM:606809": "ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 3; ACBD3", "OMIM:606810": "PROLINE DEHYDROGENASE 1; PRODH", "OMIM:606811": "ALDEHYDE DEHYDROGENASE, FAMILY 4, SUBFAMILY A, MEMBER 1; ALDH4A1", "OMIM:606813": "SOLUTE CARRIER FAMILY 2i (FACILITATED GLUCOSE TRANSPORTER), MEMBER 6; SLC2A6", "OMIM:606814": "PROTEOGLYCAN 3; PRG3", "OMIM:606815": "CBP/P300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH CARBOXY TERMINAL DOMAIN, 4; CITED4", "OMIM:606816": "SID1 TRANSMEMBRANE FAMILY, MEMBER 1; SIDT1", "OMIM:606817": "PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR; PTCRA", "OMIM:606818": "DIPEPTIDYL PEPTIDASE III; DPP3", "OMIM:606819": "DIPEPTIDYL PEPTIDASE VIII; DPP8", "OMIM:606820": "GLUTAREDOXIN 2; GLRX2", "OMIM:606821": "COMPONENT OF OLIGOMERIC GOLGI COMPLEX 5; COG5", "OMIM:606822": "PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1", "OMIM:606823": "ADHESION G PROTEIN-COUPLED RECEPTOR A2; ADGRA2", "OMIM:606825": "TENSIN 3; TNS3", "OMIM:606826": "PLEXIN DOMAIN-CONTAINING PROTEIN 1; PLXDC1", "OMIM:606827": "PLEXIN DOMAIN-CONTAINING PROTEIN 2; PLXDC2", "OMIM:606828": "N-ACETYLGLUCOSAMINE KINASE; NAGK", "OMIM:606829": "FRATAXIN; FXN", "OMIM:606830": "ATP/GTP-BINDING PROTEIN 1; AGTPBP1", "OMIM:606831": "NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 4; NLRC4", "OMIM:606832": "ENDOPLASMIC RETICULUM AMINOPEPTIDASE 1; ERAP1", "OMIM:606833": "LYSINE-SPECIFIC METHYLTRANSFERASE 2C; KMT2C", "OMIM:606834": "LYSINE-SPECIFIC METHYLTRANSFERASE 2B; KMT2B", "OMIM:606836": "GLUCOSAMINYL (N-ACETYL) TRANSFERASE 3, MUCIN-TYPE; GCNT3", "OMIM:606837": "RB1-INDUCIBLE COILED-COIL 1; RB1CC1", "OMIM:606838": "PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD", "OMIM:606839": "CADHERIN-RELATED FAMILY, MEMBER 5; CDHR5", "OMIM:606841": "DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN; DEDD", "OMIM:606844": "ALMS1 CENTROSOME AND BASAL BODY ASSOCIATED PROTEIN; ALMS1", "OMIM:606845": "GOLGI-ASSOCIATED PDZ AND COILED-COIL DOMAINS-CONTAINING PROTEIN; GOPC", "OMIM:606846": "SET AND MYND DOMAIN-CONTAINING PROTEIN 1; SMYD1", "OMIM:606847": "TREACLE RIBOSOME BIOGENESIS FACTOR 1; TCOF1", "OMIM:606848": "NIMA-RELATED KINASE 7; NEK7", "OMIM:606849": "UBIQUITIN-LIKE 5; UBL5", "OMIM:606850": "MIPOL1 GENE; MIPOL1", "OMIM:606852": "PARKINSON DISEASE 10; PARK10", "OMIM:606853": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 2; ATP6V1G2", "OMIM:606855": "RELAXIN 3; RLN3", "OMIM:606856": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 1", "OMIM:606857": "GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC", "OMIM:606860": "COMPLEMENT COMPONENT 1 INHIBITOR; C1NH", "OMIM:606861": "PROSTATE- AND TESTIS-EXPRESSED GENE; PATE", "OMIM:606862": "OSTEOCLAST-ASSOCIATED RECEPTOR; OSCAR", "OMIM:606863": "THYMOCYTE SELECTION-ASSOCIATED HIGH MOBILITY GROUP BOX; TOX", "OMIM:606865": "FUCOSYLTRANSFERASE 9; FUT9", "OMIM:606866": "MITOCHONDRIAL RIBOSOMAL PROTEIN L49; MRPL49", "OMIM:606867": "GOLGI REASSEMBLY STACKING PROTEIN 1; GORASP1", "OMIM:606868": "HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2", "OMIM:606869": "HEXOSAMINIDASE A; HEXA", "OMIM:606870": "JUNCTIONAL ADHESION MOLECULE 2; JAM2", "OMIM:606871": "JUNCTIONAL ADHESION MOLECULE 3; JAM3", "OMIM:606872": "CAS-BR-M MURINE ECTOPIC RETROVIRAL TRANSFORMING SEQUENCE LIKE-1; CBLL1", "OMIM:606873": "HEXOSAMINIDASE B; HEXB", "OMIM:606874": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6", "OMIM:606875": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7; HSCR7", "OMIM:606876": "PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, BETA; PITPNB", "OMIM:606877": "ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C", "OMIM:606878": "ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER D; ANP32D", "OMIM:606879": "PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH", "OMIM:606880": "CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2", "OMIM:606881": "FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 1; FHOD1", "OMIM:606882": "ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B", "OMIM:606883": "INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4", "OMIM:606884": "RNA-BINDING MOTIF PROTEIN 5; RBM5", "OMIM:606885": "ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS", "OMIM:606886": "RNA-BINDING MOTIF PROTEIN 6; RBM6", "OMIM:606887": "SULFITE OXIDASE; SUOX", "OMIM:606888": "CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 6; CHRNA6", "OMIM:606890": "GALACTOSYLCERAMIDASE; GALC", "OMIM:606891": "Fc RECEPTOR-LIKE PROTEIN A; FCRLA", "OMIM:606892": "SYNTAXIN 12; STX12", "OMIM:606894": "DUODENOJEJUNAL ATRESIA WITH VOLVULUS, ABSENT DORSAL MESENTERY, AND ABSENT SUPERIOR MESENTERIC ARTERY", "OMIM:606896": "DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5", "OMIM:606897": "LYSOSOMAL TRAFFICKING REGULATOR; LYST", "OMIM:606898": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-6 SUBUNIT; CACNG6", "OMIM:606899": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-7 SUBUNIT; CACNG7", "OMIM:606900": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-8 SUBUNIT; CACNG8", "OMIM:606902": "PYGOPUS FAMILY PHD FINGER 1; PYGO1", "OMIM:606903": "PYGOPUS FAMILY PHD FINGER 2; PYGO2", "OMIM:606905": "PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1; PREX1", "OMIM:606906": "MITOCHONDRIAL RIBOSOMAL RNA METHYLTRANSFERASE 2; MRM2", "OMIM:606907": "APOLIPOPROTEIN M; APOM", "OMIM:606908": "ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 2; ARFGAP2", "OMIM:606909": "VESICLE-ASSOCIATED MEMBRANE PROTEIN 4; VAMP4", "OMIM:606910": "BCL2-LIKE 10; BCL2L10", "OMIM:606911": "SECRETORY CARRIER MEMBRANE PROTEIN 1; SCAMP1", "OMIM:606912": "SECRETORY CARRIER MEMBRANE PROTEIN 2; SCAMP2", "OMIM:606913": "SECRETORY CARRIER MEMBRANE PROTEIN 3; SCAMP3", "OMIM:606914": "PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR BETA; PKIB", "OMIM:606915": "G PROTEIN-COUPLED RECEPTOR 63; GPR63", "OMIM:606916": "G PROTEIN-COUPLED RECEPTOR 61; GPR61", "OMIM:606917": "G PROTEIN-COUPLED RECEPTOR 62; GPR62", "OMIM:606918": "GOLGIN A5; GOLGA5", "OMIM:606919": "CERAMIDE SYNTHASE 1; CERS1", "OMIM:606920": "CERAMIDE SYNTHASE 2; CERS2", "OMIM:606921": "G PROTEIN-COUPLED RECEPTOR 78; GPR78", "OMIM:606922": "OXOGLUTARATE RECEPTOR 1; OXGR1", "OMIM:606923": "HYDROXYCARBOXYLIC ACID RECEPTOR 1; HCAR1", "OMIM:606925": "PYROGLUTAMYLATED RF-AMIDE PEPTIDE RECEPTOR; QRFPR", "OMIM:606926": "LYSOPHOSPHATIDIC ACID RECEPTOR 5; LPAR5", "OMIM:606927": "TRACE AMINE-ASSOCIATED RECEPTOR 8; TAAR8", "OMIM:606928": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3", "OMIM:606929": "THO COMPLEX, SUBUNIT 3; THOC3", "OMIM:606930": "THO COMPLEX, SUBUNIT 1; THOC1", "OMIM:606932": "VPS29 RETROMER COMPLEX COMPONENT; VPS29", "OMIM:606933": "TYROSINASE; TYR", "OMIM:606934": "NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 1; NDUFAF1", "OMIM:606935": "RNA-BINDING MOTIF PROTEIN 17; RBM17", "OMIM:606936": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 4; TRPM4", "OMIM:606938": "UROPORPHYRINOGEN III SYNTHASE; UROS", "OMIM:606939": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 2; ATP6V1B2", "OMIM:606940": "ZINC FINGER HOMEOBOX 4; ZFHX4", "OMIM:606941": "ALG9 ALPHA-1,2-MANNOSYLTRANSFERASE; ALG9", "OMIM:606942": "COATOMER PROTEIN COMPLEX, SUBUNIT EPSILON; COPE", "OMIM:606944": "ERBB2 INTERACTING PROTEIN; ERBIN", "OMIM:606945": "LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR", "OMIM:606946": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; ANAPC2", "OMIM:606947": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 4; ANAPC4", "OMIM:606948": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 5; ANAPC5", "OMIM:606949": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; ANAPC7", "OMIM:606950": "THYROTROPIN-RELEASING HORMONE-DEGRADING ECTOENZYME; TRHDE", "OMIM:606951": "INTERFERON-INDUCED HELICASE C DOMAIN-CONTAINING PROTEIN 1; IFIH1", "OMIM:606953": "UDP-GALACTOSE-4-EPIMERASE; GALE", "OMIM:606954": "ZINC FINGER PROTEIN 253; ZNF253", "OMIM:606956": "ZINC FINGER PROTEIN 256; ZNF256", "OMIM:606957": "ZINC FINGER PROTEIN 257; ZNF257", "OMIM:606958": "PROTEIN ASSOCIATED WITH LIN7 1, MAGUK p55 FAMILY MEMBER; PALS1", "OMIM:606959": "PROTEIN ASSOCIATED WITH LIN7 2, MAGUK p55 FAMILY MEMBER; PALS2", "OMIM:606961": "WW DOMAIN-BINDING PROTEIN 1; WBP1", "OMIM:606962": "WW DOMAIN-BINDING PROTEIN 2; WBP2", "OMIM:606964": "SERINE/THREONINE PROTEIN KINASE 38; STK38", "OMIM:606965": "FAS-ACTIVATED SERINE/THREONINE KINASE; FASTK", "OMIM:606967": "LECITHIN:CHOLESTEROL ACYLTRANSFERASE; LCAT", "OMIM:606968": "EUKARYOTIC ELONGATION FACTOR 2 KINASE; EEF2K", "OMIM:606969": "GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 4; GEMIN4", "OMIM:606972": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2; EIG2", "OMIM:606973": "COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1", "OMIM:606974": "COMPONENT OF OLIGOMERIC GOLGI COMPLEX 2; COG2", "OMIM:606975": "COMPONENT OF OLIGOMERIC GOLGI COMPLEX 3; COG3", "OMIM:606976": "COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4; COG4", "OMIM:606977": "COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6", "OMIM:606978": "COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7; COG7", "OMIM:606979": "COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8; COG8", "OMIM:606980": "COENZYME Q8A; COQ8A", "OMIM:606981": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-2; GNG2", "OMIM:606982": "GERANYLGERANYL DIPHOSPHATE SYNTHASE 1; GGPS1", "OMIM:606983": "DIACYLGLYCEROL O-ACYLTRANSFERASE 2; DGAT2", "OMIM:606984": "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2", "OMIM:606985": "ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 4; ELP4", "OMIM:606987": "G PROTEIN-COUPLED RECEPTOR KINASE 7; GRK7", "OMIM:606988": "CALCINEURIN-LIKE EF-HAND PROTEIN 1; CHP1", "OMIM:606989": "MYELOPEROXIDASE; MPO", "OMIM:606990": "COATOMER PROTEIN COMPLEX, SUBUNIT BETA-2; COPB2", "OMIM:606991": "INOSITOL HEXAPHOSPHATE KINASE 1; IP6K1", "OMIM:606992": "INOSITOL HEXAPHOSPHATE KINASE 2; IP6K2", "OMIM:606993": "INOSITOL HEXAPHOSPHATE KINASE 3; IP6K3", "OMIM:606994": "TYROSINE KINASE, NONRECEPTOR, 2; TNK2", "OMIM:606997": "C1D NUCLEAR RECEPTOR COREPRESSOR; C1D", "OMIM:606998": "FLOTILLIN 1; FLOT1", "OMIM:606999": "GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT", "OMIM:607000": "MEDIATOR COMPLEX SUBUNIT 24; MED24", "OMIM:607001": "EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1", "OMIM:607002": "PROKINETICIN 2; PROK2", "OMIM:607003": "THYMIC STROMAL LYMPHOPOIETIN; TSLP", "OMIM:607005": "GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 5; GEMIN5", "OMIM:607006": "GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 6; GEMIN6", "OMIM:607007": "SNAP-ASSOCIATED PROTEIN; SNAPIN", "OMIM:607008": "ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM", "OMIM:607009": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6; TRPM6", "OMIM:607010": "DECAPPING mRNA 1A; DCP1A", "OMIM:607011": "UBIQUITIN-SPECIFIC PROTEASE 17; USP17", "OMIM:607012": "B-DOUBLE PRIME 1, SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR IIIB; BDP1", "OMIM:607013": "BRF2 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR; BRF2", "OMIM:607018": "ADHESION G PROTEIN-COUPLED RECEPTOR L2; ADGRL2", "OMIM:607019": "RAS ASSOCIATION DOMAIN FAMILY PROTEIN 3; RASSF3", "OMIM:607020": "RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5", "OMIM:607021": "SEZ6-LIKE PROTEIN; SEZ6L", "OMIM:607022": "CCCTC-BINDING FACTOR-LIKE PROTEIN; CTCFL", "OMIM:607023": "POLO-LIKE KINASE 2; PLK2", "OMIM:607024": "DEBRANCHING RNA LARIATS 1; DBR1", "OMIM:607025": "MATERNAL EMBRYONIC LEUCINE ZIPPER KINASE; MELK", "OMIM:607026": "NEURON NAVIGATOR 2; NAV2", "OMIM:607027": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 70-KD, VI SUBUNIT A; ATP6V1A", "OMIM:607028": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 1; ATP6V0D1", "OMIM:607029": "VESICLE-ASSOCIATED MEMBRANE PROTEIN 5; VAMP5", "OMIM:607030": "GRANCALCIN; GCA", "OMIM:607031": "LIPOIC ACID SYNTHASE; LIAS", "OMIM:607032": "SMG1 NONSENSE-MEDIATED mRNA DECAY-ASSOCIATED PI3K-RELATED KINASE; SMG1", "OMIM:607033": "TRANSCRIPTION FACTOR B1, MITOCHONDRIAL; TFB1M", "OMIM:607035": "SUFU NEGATIVE REGULATOR OF HEDGEHOG SIGNALING; SUFU", "OMIM:607036": "ISOVALERYL-CoA DEHYDROGENASE; IVD", "OMIM:607037": "ENOYL-CoA HYDRATASE/3-HYDROXYACYL CoA DEHYDROGENASE; EHHADH", "OMIM:607038": "OTOANCORIN; OTOA", "OMIM:607040": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11", "OMIM:607041": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 12; ABCC12", "OMIM:607042": "CLN3 LYSOSOMAL/ENDOSOMAL TRANSMEMBRANE PROTEIN, BATTENIN; CLN3", "OMIM:607043": "TRAF3-INTERACTING PROTEIN 2; TRAF3IP2", "OMIM:607044": "T-BOX 24", "OMIM:607045": "RHABDOMYOSARCOMA 2-ASSOCIATED TRANSCRIPT; RMST", "OMIM:607046": "TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 22; TOMM22", "OMIM:607047": "ATAXIN 3; ATXN3", "OMIM:607048": "START DOMAIN-CONTAINING PROTEIN 3; STARD3", "OMIM:607049": "START DOMAIN-CONTAINING PROTEIN 4; STARD4", "OMIM:607050": "START DOMAIN-CONTAINING PROTEIN 5; STARD5", "OMIM:607051": "START DOMAIN-CONTAINING PROTEIN 6; STARD6", "OMIM:607052": "TUMOR SUPPRESSOR CANDIDATE 2; TUSC2", "OMIM:607053": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2; HDLCQ2", "OMIM:607054": "PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 3; PHLDA3", "OMIM:607055": "TRANSCRIPTION FACTOR B2, MITOCHONDRIAL; TFB2M", "OMIM:607056": "INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; IMPG2", "OMIM:607057": "UBIQUITIN-SPECIFIC PROTEASE 18; USP18", "OMIM:607058": "GAP JUNCTION PROTEIN, DELTA-2; GJD2", "OMIM:607059": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4; SLC39A4", "OMIM:607061": "PROSTAGLANDIN E SYNTHASE 3; PTGES3", "OMIM:607062": "FK506-BINDING PROTEIN 7; FKBP7", "OMIM:607063": "FK506-BINDING PROTEIN 10; FKBP10", "OMIM:607064": "PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER 2; PCOLCE2", "OMIM:607065": "GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE; QPCT", "OMIM:607066": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 3; TRPV3", "OMIM:607067": "SAITOHIN; STH", "OMIM:607068": "CYTOCHROME b561 DOMAIN-CONTAINING PROTEIN 2; CYB561D2", "OMIM:607069": "TRANSMEMBRANE PROTEIN 115; TMEM115", "OMIM:607070": "ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 10; ZMYND10", "OMIM:607071": "HYALURONOGLUCOSAMINIDASE 1; HYAL1", "OMIM:607072": "NPR2-LIKE PROTEIN, GATOR1 COMPLEX SUBUNIT; NPRL2", "OMIM:607073": "N-ALPHA-ACETYLTRANSFERASE 80, NatH CATALYTIC SUBUNIT; NAA80", "OMIM:607074": "PROTEIN KINASE D2; PRKD2", "OMIM:607075": "PDGFA-ASSOCIATED PROTEIN 1; PDAP1", "OMIM:607076": "PROTEASE INHIBITOR 15; PI15", "OMIM:607077": "PROTEIN KINASE D3; PRKD3", "OMIM:607079": "RHESUS BLOOD GROUP, B GLYCOPROTEIN; RHBG", "OMIM:607081": "TAP-BINDING PROTEIN-LIKE; TAPBPL", "OMIM:607082": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 2; CACNA2D2", "OMIM:607083": "NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 3; NSD3", "OMIM:607085": "MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA", "OMIM:607086": "AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1", "OMIM:607087": "AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2", "OMIM:607089": "CYCLIN D-TYPE-BINDING PROTEIN 1; CCNDBP1", "OMIM:607090": "SYF2 PRE-mRNA SPLICING FACTOR; SYF2", "OMIM:607092": "SPHINGOSINE KINASE 2; SPHK2", "OMIM:607093": "5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR", "OMIM:607094": "SUPPRESSOR OF CYTOKINE SIGNALING 5; SOCS5", "OMIM:607096": "SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12", "OMIM:607097": "SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 11", "OMIM:607098": "ENOLASE ALPHA, LUNG-SPECIFIC; ENO1B", "OMIM:607099": "HISTONE H4 TRANSCRIPTION FACTOR; HINFP", "OMIM:607100": "NEPHROCYSTIN 1; NPHP1", "OMIM:607102": "WT1 TRANSCRIPTION FACTOR; WT1", "OMIM:607103": "ARGINYLTRANSFERASE 1; ATE1", "OMIM:607104": "TANKYRASE 1-BINDING PROTEIN 1; TNKS1BP1", "OMIM:607105": "NADPH OXIDASE 3; NOX3", "OMIM:607106": "MINOR HISTOCOMPATIBILITY 13; HM13", "OMIM:607108": "PAIRED BOX GENE 6; PAX6", "OMIM:607109": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3A; APOBEC3A", "OMIM:607110": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B; APOBEC3B", "OMIM:607111": "SPARTIN; SPART", "OMIM:607112": "F-BOX ONLY PROTEIN 2; FBXO2", "OMIM:607113": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G; APOBEC3G", "OMIM:607114": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 33; ADAM33", "OMIM:607116": "ALZHEIMER DISEASE 8", "OMIM:607117": "MICROCEPHALIN 1; MCPH1", "OMIM:607118": "MITOCHONDRIAL RIBOSOMAL PROTEIN L3; MRPL3", "OMIM:607119": "RING FINGER PROTEIN 19A, RBR E3 UBIQUITIN PROTEIN LIGASE; RNF19A", "OMIM:607120": "PHOSPHOLIPASE C, BETA-1; PLCB1", "OMIM:607122": "PROKINETICIN RECEPTOR 1; PROKR1", "OMIM:607123": "PROKINETICIN RECEPTOR 2; PROKR2", "OMIM:607124": "PHOSPHOLIPID PHOSPHATASE 1; PLPP1", "OMIM:607125": "PHOSPHOLIPID PHOSPHATASE 3; PLPP3", "OMIM:607126": "PHOSPHOLIPID PHOSPHATASE 2; PLPP2", "OMIM:607127": "ELKS/RAB6-INTERACTING/CAST FAMILY, MEMBER 1; ERC1", "OMIM:607128": "TANKYRASE 2; TNKS2", "OMIM:607129": "MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 1; MICAL1", "OMIM:607130": "REGULATORY ASSOCIATED PROTEIN OF MTOR; RPTOR", "OMIM:607132": "LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES", "OMIM:607134": "SPECIFIC LANGUAGE IMPAIRMENT 3; SLI3", "OMIM:607135": "CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS", "OMIM:607137": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D-LIKE PROTEIN; HNRNPDL", "OMIM:607138": "cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 4; CREB3L4", "OMIM:607139": "FANCA GENE; FANCA", "OMIM:607140": "ANGIOID STREAKS", "OMIM:607141": "GLIOMA PATHOGENESIS-RELATED PROTEIN 2; GLIPR2", "OMIM:607144": "ALG12 ALPHA-1,6-MANNOSYLTRANSFERASE; ALG12", "OMIM:607145": "DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1", "OMIM:607146": "PDZ DOMAIN-CONTAINING 3; PDZD3", "OMIM:607147": "NECTIN CELL ADHESION MOLECULE 3; NECTIN3", "OMIM:607149": "RNA EXONUCLEASE 2; REXO2", "OMIM:607150": "FEV TRANSCRIPTION FACTOR, ETS FAMILY MEMBER; FEV", "OMIM:607151": "MOYAMOYA DISEASE 2; MYMY2", "OMIM:607153": "INTEGRIN, BETA-1, BINDING PROTEIN OF, 1; ITGB1BP1", "OMIM:607154": "ALLERGIC RHINITIS", "OMIM:607156": "ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 6; ST3GAL6", "OMIM:607157": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 11; SIGLEC11", "OMIM:607158": "VENT HOMEOBOX; VENTX", "OMIM:607159": "ZINC FINGER MIZ-DOMAIN CONTAINING 1; ZMIZ1", "OMIM:607160": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 14-KD, V1 SUBUNIT F; ATP6V1F", "OMIM:607161": "MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL", "OMIM:607162": "ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 5; ST8SIA5", "OMIM:607163": "LYSYL OXIDASE-LIKE 3; LOXL3", "OMIM:607164": "LADYBIRD HOMEOBOX 2; LBX2", "OMIM:607165": "SERINE INCORPORATOR 3; SERINC3", "OMIM:607166": "TESTIS-SPECIFIC PROTEIN 10; TSGA10", "OMIM:607167": "DYNEIN, LIGHT CHAIN, ROADBLOCK TYPE, 1; DYNLRB1", "OMIM:607168": "DYNEIN, LIGHT CHAIN, ROADBLOCK TYPE, 2; DYNLRB2", "OMIM:607169": "PROTEASE, SERINE, 16; PRSS16", "OMIM:607170": "CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1; CRELD1", "OMIM:607171": "CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 2; CRELD2", "OMIM:607172": "SERINE/THREONINE KINASE 11-INTERACTING PROTEIN; STK11IP", "OMIM:607173": "PROTEASOME 26S SUBUNIT, NON-ATPase, 14; PSMD14", "OMIM:607175": "DUAL-SPECIFICITY PHOSPHATASE 16; DUSP16", "OMIM:607176": "CALNEURON 1; CALN1", "OMIM:607177": "IMMEDIATE-EARLY RESPONSE GENE 5; IER5", "OMIM:607178": "PDZK1-INTERACTING PROTEIN 1; PDZK1IP1", "OMIM:607179": "RNA-BINDING MOTIF PROTEIN 12; RBM12", "OMIM:607180": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 2; LRRC2", "OMIM:607181": "RECEPTOR-TRANSPORTING PROTEIN 3; RTP3", "OMIM:607182": "FYVE AND COILED-COIL DOMAIN CONTAINING 1; FYCO1", "OMIM:607183": "SEC24-RELATED GENE FAMILY, MEMBER A; SEC24A", "OMIM:607184": "SEC24-RELATED GENE FAMILY, MEMBER B; SEC24B", "OMIM:607185": "SEC24-RELATED GENE FAMILY, MEMBER C; SEC24C", "OMIM:607186": "SEC24-RELATED GENE FAMILY, MEMBER D; SEC24D", "OMIM:607187": "ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 1; ST3GAL1", "OMIM:607188": "ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 2; ST3GAL2", "OMIM:607189": "REGULATOR OF G PROTEIN SIGNALING 8; RGS8", "OMIM:607190": "REGULATOR OF G PROTEIN SIGNALING 13; RGS13", "OMIM:607191": "REGULATOR OF G PROTEIN SIGNALING 17; RGS17", "OMIM:607192": "REGULATOR OF G PROTEIN SIGNALING 18; RGS18", "OMIM:607193": "REGULATOR OF G PROTEIN SIGNALING 20; RGS20", "OMIM:607194": "PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT; PTF1A", "OMIM:607197": "DEAFNESS, AUTOSOMAL RECESSIVE", "OMIM:607198": "TYROSYL-DNA PHOSPHODIESTERASE 1; TDP1", "OMIM:607199": "INTERFERON REGULATORY FACTOR 6; IRF6", "OMIM:607201": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN R; HNRNPR", "OMIM:607202": "CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5", "OMIM:607203": "SALVADOR FAMILY, WW DOMAIN-CONTAINING PROTEIN 1; SAV1", "OMIM:607204": "PUMILIO RNA BINDING FAMILY MEMBER 1; PUM1", "OMIM:607205": "PUMILIO RNA BINDING FAMILY MEMBER 2; PUM2", "OMIM:607206": "ARACHIDONATE LIPOXYGENASE 3; ALOXE3", "OMIM:607207": "STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1", "OMIM:607209": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 10; CARD10", "OMIM:607210": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11", "OMIM:607211": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 14; CARD14", "OMIM:607212": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9; CARD9", "OMIM:607213": "ORIGIN RECOGNITION COMPLEX, SUBUNIT 6; ORC6", "OMIM:607214": "ANONYCHIA, TOTAL, WITH MICROCEPHALY", "OMIM:607215": "NEPHROCYSTIN 4; NPHP4", "OMIM:607216": "SIDEKICK CELL ADHESION MOLECULE 1; SDK1", "OMIM:607217": "SIDEKICK CELL ADHESION MOLECULE 2; SDK2", "OMIM:607218": "INTERFERON REGULATORY FACTOR 5; IRF5", "OMIM:607219": "CONTACTIN 5; CNTN5", "OMIM:607220": "CONTACTIN 6; CNTN6", "OMIM:607221": "EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES; PEPS", "OMIM:607222": "F-BOX ONLY PROTEIN 18; FBXO18", "OMIM:607223": "SPARC-RELATED MODULAR CALCIUM-BINDING PROTEIN 2; SMOC2", "OMIM:607224": "ORAL CANCER OVEREXPRESSED GENE 1; ORAOV1", "OMIM:607226": "HISTONE DEACETYLASE 11; HDAC11", "OMIM:607227": "MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X1; MRGPRX1", "OMIM:607228": "MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X2; MRGPRX2", "OMIM:607229": "MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X3; MRGPRX3", "OMIM:607230": "MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X4; MRGPRX4", "OMIM:607231": "MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER D; MRGPRD", "OMIM:607232": "MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER E; MRGPRE", "OMIM:607233": "MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER F; MRGPRF", "OMIM:607234": "MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER G; MRGPRG", "OMIM:607235": "MAS1 ONCOGENE-LIKE; MAS1L", "OMIM:607237": "TRANSMEMBRANE INNER EAR-EXPRESSED GENE; TMIE", "OMIM:607238": "COMM DOMAIN-CONTAINING PROTEIN 1; COMMD1", "OMIM:607240": "LYSINE METHYLTRANSFERASE 5A; KMT5A", "OMIM:607241": "FOLLICULAR DENDRITIC CELL SECRETED PROTEIN; FDCSP", "OMIM:607242": "ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-2 SUBUNIT; AP2A2", "OMIM:607243": "ADAPTOR-RELATED PROTEIN COMPLEX 4, SIGMA-1 SUBUNIT; AP4S1", "OMIM:607244": "ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT; AP4E1", "OMIM:607245": "ADAPTOR-RELATED PROTEIN COMPLEX 4, BETA-1 SUBUNIT; AP4B1", "OMIM:607246": "ADAPTOR-RELATED PROTEIN COMPLEX 3, DELTA-1 SUBUNIT; AP3D1", "OMIM:607247": "CHONDROLECTIN; CHODL", "OMIM:607248": "GLIOMA SUSCEPTIBILITY 4; GLM4", "OMIM:607249": "CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2", "OMIM:607251": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 22; TIMM22", "OMIM:607252": "APOLIPOPROTEIN L2; APOL2", "OMIM:607253": "APOLIPOPROTEIN L3; APOL3", "OMIM:607254": "APOLIPOPROTEIN L4; APOL4", "OMIM:607255": "APOLIPOPROTEIN L5; APOL5", "OMIM:607256": "APOLIPOPROTEIN L6; APOL6", "OMIM:607257": "SRY-BOX 6; SOX6", "OMIM:607258": "HYPERCALCIURIA, ABSORPTIVE, 1", "OMIM:607260": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 14; LGALS14", "OMIM:607261": "EVC CILIARY COMPLEX SUBUNIT 2; EVC2", "OMIM:607262": "EPSIN 1; EPN1", "OMIM:607263": "EPSIN 2; EPN2", "OMIM:607264": "EPSIN 3; EPN3", "OMIM:607265": "CLATHRIN INTERACTOR 1; CLINT1", "OMIM:607267": "POLYMERASE, DNA, EPSILON-3; POLE3", "OMIM:607268": "CHROMATIN ACCESSIBILITY COMPLEX, SUBUNIT 1; CHRAC1", "OMIM:607269": "POLYMERASE, DNA, EPSILON-4; POLE4", "OMIM:607270": "ACTIVATOR OF TRANSCRIPTION AND DEVELOPMENTAL REGULATOR AUTS2; AUTS2", "OMIM:607272": "NDC80 KINETOCHORE COMPLEX COMPONENT; NDC80", "OMIM:607273": "FOLLICULIN; FLCN", "OMIM:607274": "UBIQUITIN-SPECIFIC PROTEASE 14; USP14", "OMIM:607275": "HOP HOMEOBOX; HOPX", "OMIM:607276": "RESTING HEART RATE, VARIATION IN", "OMIM:607277": "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1", "OMIM:607279": "SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1; SLEH1", "OMIM:607280": "CONTACTIN 4; CNTN4", "OMIM:607281": "LSM1 HOMOLOG, mRNA DEGRADATION-ASSOCIATED; LSM1", "OMIM:607282": "LSM2 PROTEIN; LSM2", "OMIM:607283": "LSM3 PROTEIN; LSM3", "OMIM:607284": "LSM4 PROTEIN; LSM4", "OMIM:607285": "LSM5 PROTEIN; LSM5", "OMIM:607286": "LSM6 PROTEIN; LSM6", "OMIM:607287": "LSM7 PROTEIN; LSM7", "OMIM:607288": "LSM8 PROTEIN; LSM8", "OMIM:607289": "BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 5; BLOC1S5", "OMIM:607290": "SHISA FAMILY, MEMBER 5; SHISA5", "OMIM:607291": "SYNERGIN, GAMMA; SYNRG", "OMIM:607292": "SEMAPHORIN 4A; SEMA4A", "OMIM:607293": "CHLORIDE INTRACELLULAR CHANNEL 5; CLIC5", "OMIM:607294": "TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2; TGIF2", "OMIM:607295": "MYOSIN XVIIIB; MYO18B", "OMIM:607296": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 1; ATP6V1G1", "OMIM:607297": "NERVE INJURY-INDUCED PROTEIN 2; NINJ2", "OMIM:607298": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-13; GNG13", "OMIM:607299": "DELTA- AND NOTCH-LIKE EPIDERMAL GROWTH FACTOR-RELATED RECEPTOR; DNER", "OMIM:607300": "PRE-mRNA-PROCESSING FACTOR 8; PRPF8", "OMIM:607301": "PRE-mRNA PROCESSING FACTOR 3; PRPF3", "OMIM:607303": "MORTALITY FACTOR 4-LIKE PROTEIN 1; MORF4L1", "OMIM:607304": "CATARACT 27; CTRCT27", "OMIM:607305": "MDS2 GENE", "OMIM:607306": "STEROID 5-ALPHA-REDUCTASE 2; SRD5A2", "OMIM:607307": "FILAMIN A-INTERACTING PROTEIN 1; FILIP1", "OMIM:607308": "MAMMOGRAPHIC DENSITY", "OMIM:607309": "ADAPTOR-RELATED PROTEIN COMPLEX 1, MU-2 SUBUNIT; AP1M2", "OMIM:607310": "A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 7; ADAM7", "OMIM:607311": "PROGESTERONE RECEPTOR; PGR", "OMIM:607312": "ZINC FINGER CCCH DOMAIN-CONTAINING ANTIVIRAL PROTEIN 1; ZC3HAV1", "OMIM:607314": "CALCIUM-BINDING PROTEIN 2; CABP2", "OMIM:607315": "CALCIUM-BINDING PROTEIN 5; CABP5", "OMIM:607318": "LYSYL OXIDASE-LIKE 4; LOXL4", "OMIM:607319": "SCM-LIKE PROTEIN WITH 4 MBT DOMAINS 1; SFMBT1", "OMIM:607320": "RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 4; RASGRP4", "OMIM:607321": "ATPase, Na+/K+ TRANSPORTING, ALPHA-4 POLYPEPTIDE; ATP1A4", "OMIM:607324": "POLYDACTYLY, POSTAXIAL, TYPE A3; PAPA3", "OMIM:607325": "DEDICATOR OF CYTOKINESIS 9; DOCK9", "OMIM:607327": "MUSCLEBLIND-LIKE SPLICING REGULATOR 2; MBNL2", "OMIM:607328": "HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 1; HEXIM1", "OMIM:607329": "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3", "OMIM:607331": "RP9 PRE-mRNA SPLICING FACTOR; RP9", "OMIM:607332": "NEURONAL REGENERATION-RELATED PROTEIN; NREP", "OMIM:607333": "STE20-RELATED KINASE ADAPTOR BETA; STRADB", "OMIM:607334": "TRAFFICKING PROTEIN, KINESIN-BINDING 2; TRAK2", "OMIM:607335": "BESTROPHIN 2; BEST2", "OMIM:607336": "BESTROPHIN 4; BEST4", "OMIM:607337": "BESTROPHIN 3; BEST3", "OMIM:607338": "LEPTIN RECEPTOR OVERLAPPING TRANSCRIPT-LIKE 1; LEPROTL1", "OMIM:607339": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1", "OMIM:607340": "GAMMA-AMINOBUTYRIC ACID B RECEPTOR 2; GABBR2", "OMIM:607342": "CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 1; CPEB1", "OMIM:607343": "SAL-LIKE 4; SALL4", "OMIM:607344": "TUBULIN, DELTA-1; TUBD1", "OMIM:607345": "TUBULIN, EPSILON-1; TUBE1", "OMIM:607347": "ALPHA KINASE 1; ALPK1", "OMIM:607348": "HES FAMILY bHLH TRANSCRIPTION FACTOR 5; HES5", "OMIM:607349": "TALIN 2; TLN2", "OMIM:607350": "KINESIN FAMILY MEMBER 13B; KIF13B", "OMIM:607351": "RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 1; RHOBTB1", "OMIM:607352": "RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 2; RHOBTB2", "OMIM:607353": "RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 3; RHOBTB3", "OMIM:607354": "SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2; IS2", "OMIM:607355": "ARGONAUTE RISC COMPONENT 3; AGO3", "OMIM:607356": "ARGONAUTE RISC COMPONENT 4; AGO4", "OMIM:607357": "POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 5; KCNQ5", "OMIM:607358": "AUTOIMMUNE REGULATOR; AIRE", "OMIM:607359": "CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 2; CCAR2", "OMIM:607360": "LACRITIN; LACRT", "OMIM:607362": "RGM DOMAIN FAMILY, MEMBER A; RGMA", "OMIM:607363": "KINETOCHORE-ASSOCIATED PROTEIN 1; KNTC1", "OMIM:607365": "LIPASE H; LIPH", "OMIM:607366": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 12; KCNK12", "OMIM:607367": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 13; KCNK13", "OMIM:607368": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 15; KCNK15", "OMIM:607369": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 16; KCNK16", "OMIM:607370": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 17; KCNK17", "OMIM:607372": "MEDIATOR COMPLEX SUBUNIT 15; MED15", "OMIM:607374": "PRKR INHIBITOR, REPRESSOR OF; PRKRIR", "OMIM:607375": "DOT1-LIKE; DOT1L", "OMIM:607376": "DYNACTIN 2; DCTN2", "OMIM:607377": "LENS EPITHELIAL PROTEIN; LENEP", "OMIM:607378": "SERPINE1 mRNA-BINDING PROTEIN 1; SERBP1", "OMIM:607379": "NF2, MOESIN-EZRIN-RADIXIN-LIKE (MERLIN) TUMOR SUPPRESSOR; NF2", "OMIM:607380": "TNF RECEPTOR-ASSOCIATED FACTOR 3-INTERACTING PROTEIN 1; TRAF3IP1", "OMIM:607381": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 50; TIMM50", "OMIM:607382": "CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 3; CLIP3", "OMIM:607383": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 13; TIMM13", "OMIM:607384": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 9; TIMM9", "OMIM:607385": "MGAT4 FAMILY, MEMBER C; MGAT4C", "OMIM:607386": "INTRAFLAGELLAR TRANSPORT 172; IFT172", "OMIM:607387": "DYNACTIN 3; DCTN3", "OMIM:607388": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10B; TIMM10B", "OMIM:607389": "SINGLE-STRANDED DNA-BINDING PROTEIN 2; SSBP2", "OMIM:607390": "SINGLE-STRANDED DNA-BINDING PROTEIN 3; SSBP3", "OMIM:607391": "SINGLE-STRANDED DNA-BINDING PROTEIN 4; SSBP4", "OMIM:607392": "WW DOMAIN-CONTAINING TRANSCRIPTION REGULATOR 1; WWTR1", "OMIM:607393": "CELL DIVISION CYCLE 73; CDC73", "OMIM:607394": "POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3; POU2F3", "OMIM:607395": "STREPTOCOCCUS, GROUP A, SEVERITY OF INFECTION BY", "OMIM:607396": "TRANSDUCER OF ERBB2, 2; TOB2", "OMIM:607397": "MELANOCORTIN 2 RECEPTOR; MC2R", "OMIM:607399": "MUCOLIPIN 2; MCOLN2", "OMIM:607400": "MUCOLIPIN 3; MCOLN3", "OMIM:607401": "INTERFERON, LAMBDA-2; IFNL2", "OMIM:607402": "INTERFERON, LAMBDA-3; IFNL3", "OMIM:607403": "INTERFERON, LAMBDA-1; IFNL1", "OMIM:607404": "INTERFERON-LAMBDA RECEPTOR 1; IFNLR1", "OMIM:607405": "TRACE AMINE-ASSOCIATED RECEPTOR 5; TAAR5", "OMIM:607406": "STARCH-BINDING DOMAIN-CONTAINING PROTEIN 1; STBD1", "OMIM:607407": "EARLY B-CELL FACTOR 3; EBF3", "OMIM:607408": "D-AMINO ACID OXIDASE ACTIVATOR; DAOA", "OMIM:607409": "NEURITIN 1; NRN1", "OMIM:607410": "DIENCEPHALON/MESENCEPHALON HOMEOBOX 1; DMBX1", "OMIM:607412": "BPI FOLD-CONTAINING PROTEIN, FAMILY A, MEMBER 1; BPIFA1", "OMIM:607413": "ALZHEIMER DISEASE NEURONAL THREAD PROTEIN", "OMIM:607414": "FEZ FAMILY ZINC FINGER PROTEIN 2; FEZF2", "OMIM:607415": "DAOA ANTISENSE RNA; DAOAAS", "OMIM:607416": "CELL ADHESION MOLECULE L1-LIKE; CHL1", "OMIM:607418": "GRIP AND COILED-COIL DOMAINS-CONTAINING PROTEIN 1; GCC1", "OMIM:607419": "GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 7; GEMIN7", "OMIM:607420": "GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 1; GABARAPL1", "OMIM:607421": "NME/NM23 FAMILY, MEMBER 8; NME8", "OMIM:607422": "GLYCINE C-ACETYLTRANSFERASE; GCAT", "OMIM:607423": "PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1", "OMIM:607424": "GLYCINE N-ACYLTRANSFERASE; GLYAT", "OMIM:607425": "GAP JUNCTION PROTEIN, DELTA-3; GJD3", "OMIM:607427": "ENOLASE SUPERFAMILY MEMBER 1; ENOSF1", "OMIM:607428": "KIRRE-LIKE NEPHRIN FAMILY ADHESION MOLECULE 1; KIRREL1", "OMIM:607429": "PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1; PDSS1", "OMIM:607430": "DAZ-ASSOCIATED PROTEIN 1; DAZAP1", "OMIM:607431": "DAZ-ASSOCIATED PROTEIN 2; DAZAP2", "OMIM:607433": "TWINFILIN ACTIN-BINDING PROTEIN 2; TWF2", "OMIM:607434": "GTP-BINDING PROTEIN 2; GTPBP2", "OMIM:607435": "ERA G-PROTEIN-LIKE 1; ERAL1", "OMIM:607436": "POLY(A) POLYMERASE, BETA; PAPOLB", "OMIM:607437": "G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER D; GPRC5D", "OMIM:607439": "PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2", "OMIM:607440": "FUKUTIN; FKTN", "OMIM:607441": "EPITHELIAL STROMAL INTERACTION 1; EPSTI1", "OMIM:607442": "ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 4; EML4", "OMIM:607443": "EPIDIDYMAL SPERM BINDING PROTEIN 1; ELSPBP1", "OMIM:607444": "SBDS RIBOSOME MATURATION FACTOR; SBDS", "OMIM:607445": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4E NUCLEAR IMPORT FACTOR 1; EIF4ENIF1", "OMIM:607446": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 3; BMIQ3", "OMIM:607447": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4", "OMIM:607448": "NEUROPEPTIDE FF RECEPTOR 1; NPFFR1", "OMIM:607449": "NEUROPEPTIDE FF RECEPTOR 2; NPFFR2", "OMIM:607451": "GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 2; GMEB2", "OMIM:607452": "GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 2; GABARAPL2", "OMIM:607455": "ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 3; ZFAND3", "OMIM:607456": "UTP4 SMALL SUBUNIT PROCESSOME COMPONENT; UTP4", "OMIM:607457": "GIL BLOOD GROUP", "OMIM:607460": "PHOSPHATIDYLSERINE-SPECIFIC PHOSPHOLIPASE A1-ALPHA; PLA1A", "OMIM:607461": "DYMECLIN; DYM", "OMIM:607462": "ATROPHIN 1; ATN1", "OMIM:607463": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13-LIKE; PPP1R13L", "OMIM:607464": "THYROID CARCINOMA, HURTHLE CELL", "OMIM:607465": "CODANIN 1; CDAN1", "OMIM:607466": "RAS-ASSOCIATED PROTEIN RAB2B; RAB2B", "OMIM:607467": "C-TYPE LECTIN-LIKE 1; CLECL1", "OMIM:607468": "G PROTEIN-COUPLED RECEPTOR 88; GPR88", "OMIM:607469": "N-ACYLETHANOLAMINE ACID AMIDASE; NAAA", "OMIM:607470": "BCAS3 MICROTUBULE-ASSOCIATED CELL MIGRATION FACTOR; BCAS3", "OMIM:607471": "BREAST CARCINOMA AMPLIFIED SEQUENCE 4; BCAS4", "OMIM:607472": "MITOCHONDRIAL ESCAPE 1-LIKE 1; YME1L1", "OMIM:607474": "HOMOGENTISATE 1,2-DIOXYGENASE; HGD", "OMIM:607477": "G2- AND S-PHASE EXPRESSED GENE 1; GTSE1", "OMIM:607478": "TRYPTOPHAN HYDROXYLASE 2; TPH2", "OMIM:607479": "APC DOWNREGULATED 1; APCDD1", "OMIM:607481": "METABOLISM OF COBALAMIN ASSOCIATED A; MMAA", "OMIM:607484": "PAR6 FAMILY CELL POLARITY REGULATOR ALPHA; PARD6A", "OMIM:607486": "KNOPS BLOOD GROUP SYSTEM; KN", "OMIM:607489": "CULLIN 9; CUL9", "OMIM:607490": "LACTATE DEHYDROGENASE D; LDHD", "OMIM:607491": "PROTEIN O-FUCOSYLTRANSFERASE 1; POFUT1", "OMIM:607492": "PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1", "OMIM:607493": "INHIBITOR OF GROWTH 3; ING3", "OMIM:607494": "INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE II, 105-KD; INPP4B", "OMIM:607496": "NITRIC OXIDE SYNTHASE TRAFFICKER; NOSTRIN", "OMIM:607497": "BETA-1,3-GLUCURONYLTRANSFERASE 2; B3GAT2", "OMIM:607502": "DISPATCHED RND TRANSPORTER FAMILY, MEMBER 1; DISP1", "OMIM:607503": "DISPATCHED RND TRANSPORTER FAMILY, MEMBER 2; DISP2", "OMIM:607504": "HEADACHE ASSOCIATED WITH SEXUAL ACTIVITY; HSA", "OMIM:607505": "PAS DOMAIN-CONTAINING SERINE/THREONINE KINASE; PASK", "OMIM:607506": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 14; ADAMTS14", "OMIM:607507": "PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO", "OMIM:607509": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 15; ADAMTS15", "OMIM:607510": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 16; ADAMTS16", "OMIM:607511": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 17; ADAMTS17", "OMIM:607512": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 18; ADAMTS18", "OMIM:607513": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 19; ADAMTS19", "OMIM:607514": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10; BMIQ10", "OMIM:607515": "PLACENTA-SPECIFIC GENE 8; PLAC8", "OMIM:607517": "LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 4; LILRA4", "OMIM:607518": "MONOCYTE AND PLASMACYTOID ACTIVATED MOLECULE", "OMIM:607519": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 4; PARP4", "OMIM:607520": "ZYGOTE ARREST 1; ZAR1", "OMIM:607521": "HPS5 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 2; HPS5", "OMIM:607522": "HPS6 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 3; HPS6", "OMIM:607524": "RING FINGER PROTEIN 39; RNF39", "OMIM:607525": "POLYMERASE I, RNA, SUBUNIT H; POLR1H", "OMIM:607526": "RIBOSOMAL PROTEIN L27; RPL27", "OMIM:607527": "POLYPYRIMIDINE TRACT BINDING PROTEIN 3; PTBP3", "OMIM:607528": "ROUNDABOUT GUIDANCE RECEPTOR 4; ROBO4", "OMIM:607529": "SERYL-tRNA SYNTHETASE 1; SARS1", "OMIM:607530": "HOMEOBOX A11, ANTISENSE; HOXA11AS", "OMIM:607531": "KRUPPEL-LIKE FACTOR 12; KLF12", "OMIM:607532": "PROGESTERONE-INDUCED BLOCKING FACTOR 1; PIBF1", "OMIM:607533": "DIS3 HOMOLOG, EXOSOME ENDORIBONUCLEASE AND 3-PRIME-5-PRIME EXORIBONUCLEASE; DIS3", "OMIM:607534": "YY1-ASSOCIATED FACTOR 2; YAF2", "OMIM:607535": "RING1- AND YY1-BINDING PROTEIN; RYBP", "OMIM:607536": "CREB-REGULATED TRANSCRIPTION COACTIVATOR 1; CRTC1", "OMIM:607537": "MASTERMIND-LIKE 2; MAML2", "OMIM:607538": "NUDE NEURODEVELOPMENT PROTEIN 1-LIKE 1; NDEL1", "OMIM:607540": "SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS", "OMIM:607542": "POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1", "OMIM:607543": "SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM", "OMIM:607544": "LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC", "OMIM:607545": "METHYLSTEROL MONOOXYGENASE 1; MSMO1", "OMIM:607546": "CD200 RECEPTOR 1; CD200R1", "OMIM:607547": "RIBOSOMAL PROTEIN L39-LIKE; RPL39L", "OMIM:607548": "RADIAL SPOKE HEAD 6 HOMOLOG A; RSPH6A", "OMIM:607549": "POTE ANKYRIN DOMAIN FAMILY, MEMBER D; POTED", "OMIM:607550": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 10; SLC16A10", "OMIM:607551": "STROMAL CELL-DERIVED FACTOR 2-LIKE 1; SDF2L1", "OMIM:607553": "EPIPLAKIN 1; EPPK1", "OMIM:607555": "TORSIN 3A; TOR3A", "OMIM:607556": "TWIST FAMILY bHLH TRANSCRIPTION FACTOR 2; TWIST2", "OMIM:607557": "SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 8; SLC17A8", "OMIM:607558": "SEC14-LIKE LIPID-BINDING PROTEIN 2; SEC14L2", "OMIM:607559": "MAHOGUNIN, RING FINGER 1; MGRN1", "OMIM:607560": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARHGEF2", "OMIM:607562": "INTERLEUKIN 23 RECEPTOR; IL23R", "OMIM:607563": "SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 6; SLC17A6", "OMIM:607564": "TRIPARTITE MOTIF-CONTAINING PROTEIN 6; TRIM6", "OMIM:607566": "EPM2A GLUCAN PHOSPHATASE, LAFORIN; EPM2A", "OMIM:607567": "OLFACTOMEDIN 3; OLFM3", "OMIM:607568": "METABOLISM OF COBALAMIN ASSOCIATED B; MMAB", "OMIM:607570": "DEAH-BOX HELICASE 40; DHX40", "OMIM:607571": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL OXODICARBOXYLATE CARRIER), MEMBER 21; SLC25A21", "OMIM:607572": "LEPROSY, SUSCEPTIBILITY TO, 2; LPRS2", "OMIM:607573": "MICROTUBULE-ASSOCIATED PROTEIN 1S; MAP1S", "OMIM:607574": "ARYLSULFATASE A; ARSA", "OMIM:607575": "ADENOSINE DEAMINASE 2; ADA2", "OMIM:607576": "CECR2 HISTONE ACETYL-LYSINE READER; CECR2", "OMIM:607577": "ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 4; ENTPD4", "OMIM:607579": "SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 9; SLC22A9", "OMIM:607580": "SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 10; SLC22A10", "OMIM:607581": "SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 8; SLC22A8", "OMIM:607582": "SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 6; SLC22A6", "OMIM:607583": "PEROXISOME BIOGENESIS FACTOR 11G; PEX11G", "OMIM:607585": "ATM SERINE/THREONINE KINASE; ATM", "OMIM:607586": "CALCIUM RESPONSE FACTOR; CARF", "OMIM:607587": "INTERLEUKIN 17D; IL17D", "OMIM:607588": "PEPTIDYL-PROLYL ISOMERASE-LIKE 2; PPIL2", "OMIM:607589": "SERUM/GLUCOCORTICOID-REGULATED KINASE 2; SGK2", "OMIM:607590": "BBS7 GENE; BBS7", "OMIM:607591": "SERUM/GLUCOCORTICOID-REGULATED KINASE 3; SGK3", "OMIM:607592": "PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19", "OMIM:607593": "MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1; MDC1", "OMIM:607599": "RETINOL DEHYDROGENASE 10; RDH10", "OMIM:607600": "EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS; EBSS", "OMIM:607601": "TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1; TICAM1", "OMIM:607603": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 4; KCNG4", "OMIM:607604": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 2; KCNV2", "OMIM:607605": "GLUTATHIONE S-TRANSFERASE, ALPHA-5; GSTA5", "OMIM:607606": "KERATIN 9, TYPE I; KRT9", "OMIM:607607": "NUCLEOPORIN, 54-KD; NUP54", "OMIM:607608": "SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1", "OMIM:607609": "PEPTIDYL-PROLYL ISOMERASE-LIKE 4; PPIL4", "OMIM:607610": "PHOSPHOLIPID SCRAMBLASE 2; PLSCR2", "OMIM:607611": "PHOSPHOLIPID SCRAMBLASE 3; PLSCR3", "OMIM:607612": "PHOSPHOLIPID SCRAMBLASE 4; PLSCR4", "OMIM:607613": "NUCLEOPORIN, 133-KD; NUP133", "OMIM:607614": "NUCLEOPORIN, 160-KD; NUP160", "OMIM:607615": "NUCLEOPORIN, 58-KD; NUP58", "OMIM:607617": "NUCLEOPORIN, 107-KD; NUP107", "OMIM:607618": "DEAD-BOX HELICASE 28; DDX28", "OMIM:607619": "FERM DOMAIN-CONTAINING PROTEIN 3; FRMD3", "OMIM:607620": "COLLECTIN 10; COLEC10", "OMIM:607621": "COLLECTIN 12; COLEC12", "OMIM:607622": "PHOSPHOMEVALONATE KINASE; PMVK", "OMIM:607623": "NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1; NPC1", "OMIM:607627": "BPI FOLD-CONTAINING PROTEIN, FAMILY A, MEMBER 4, PSEUDOGENE; BPIFA4P", "OMIM:607629": "APH1 HOMOLOG A, GAMMA SECRETASE SUBUNIT; APH1A", "OMIM:607630": "APH1 HOMOLOG B, GAMMA-SECRETASE SUBUNIT; APH1B", "OMIM:607632": "PRESENILIN ENHANCER, GAMMA-SECRETASE SUBUNIT; PSENEN", "OMIM:607633": "XANTHINE DEHYDROGENASE; XDH", "OMIM:607635": "CARBOXYPEPTIDASE A4; CPA4", "OMIM:607637": "EMX2 OPPOSITE STRAND/ANTISENSE RNA; EMX2OS", "OMIM:607638": "DEOXYCYTIDYLATE DEAMINASE; DCTD", "OMIM:607639": "SCAVENGER RECEPTOR CYSTEINE-RICH FAMILY MEMBER WITH 4 DOMAINS; SSC4D", "OMIM:607640": "ATAXIN 7; ATXN7", "OMIM:607642": "RETINOIC ACID-INDUCED GENE 1; RAI1", "OMIM:607643": "FASCIN ACTIN-BUNDLING PROTEIN 2, RETINAL; FSCN2", "OMIM:607645": "NEURONAL VESICLE TRAFFICKING-ASSOCIATED PROTEIN 1; NSG1", "OMIM:607646": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7B; ZBTB7B", "OMIM:607647": "PLASMALEMMA VESICLE-ASSOCIATED PROTEIN; PLVAP", "OMIM:607648": "SERINE/THREONINE PROTEIN KINASE 39; STK39", "OMIM:607649": "OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1", "OMIM:607650": "DEFENSIN, BETA, 118; DEFB118", "OMIM:607651": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY B, MEMBER 1; PLEKHB1", "OMIM:607652": "SERINE/THREONINE PROTEIN KINASE 36; STK36", "OMIM:607653": "RAS HOMOLOG GENE FAMILY, MEMBER J; RHOJ", "OMIM:607656": "CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME", "OMIM:607657": "CYSTATHIONINE GAMMA-LYASE; CTH", "OMIM:607658": "HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME", "OMIM:607659": "ELL-ASSOCIATED FACTOR 2; EAF2", "OMIM:607660": "TESTIS-SPECIFIC SERINE/THREONINE KINASE 3; TSSK3", "OMIM:607662": "SPERMATOGENESIS-ASSOCIATED PROTEIN 2; SPATA2", "OMIM:607663": "DEAD-BOX HELICASE 25; DDX25", "OMIM:607664": "N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS", "OMIM:607665": "TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU", "OMIM:607666": "ANGIOPOIETIN-LIKE 5; ANGPTL5", "OMIM:607667": "CATENIN, ALPHA-3; CTNNA3", "OMIM:607668": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 6-INTERACTING PROTEIN 4; ARL6IP4", "OMIM:607669": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 6-INTERACTING PROTEIN 1; ARL6IP1", "OMIM:607670": "SERINE/THREONINE PROTEIN KINASE 33; STK33", "OMIM:607672": "CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1", "OMIM:607673": "ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 1; EDEM1", "OMIM:607675": "REST COREPRESSOR; RCOR", "OMIM:607679": "DEDICATOR OF CYTOKINESIS 4; DOCK4", "OMIM:607680": "ZINC FINGER PROTEIN 363; ZNF363", "OMIM:607686": "FIP1-LIKE 1; FIP1L1", "OMIM:607687": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3", "OMIM:607690": "SECRETION-ASSOCIATED RAS-RELATED GTPase 1B; SAR1B", "OMIM:607691": "SECRETION-ASSOCIATED RAS-RELATED GTPase 1A; SAR1A", "OMIM:607693": "SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2; SECISBP2", "OMIM:607695": "EUKARYOTIC ELONGATION FACTOR, SELENOCYSTEINE-tRNA-SPECIFIC; EEFSEC", "OMIM:607696": "USH1 PROTEIN NETWORK COMPONENT SANS; USH1G", "OMIM:607697": "SET-BINDING FACTOR 2; SBF2", "OMIM:607698": "LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR; LCOR", "OMIM:607699": "RING FINGER PROTEIN 20; RNF20", "OMIM:607700": "RING FINGER PROTEIN 40; RNF40", "OMIM:607701": "KELCH-LIKE 41; KLHL41", "OMIM:607702": "TRANSCRIPTIONAL AND IMMUNE RESPONSE REGULATOR; TCIM", "OMIM:607703": "NUCLEOPORIN, 210-KD; NUP210", "OMIM:607704": "KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1; KANK1", "OMIM:607705": "PROTEASOME ACTIVATOR SUBUNIT 4; PSME4", "OMIM:607707": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-BETA; CAMK2B", "OMIM:607708": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D", "OMIM:607709": "TIGHT JUNCTION PROTEIN 2; TJP2", "OMIM:607710": "ENDOSOMAL TRANSMEMBRANE EPSIN INTERACTOR 1; ENTREP1", "OMIM:607711": "DISCO-INTERACTING PROTEIN 2 HOMOLOG A; DIP2A", "OMIM:607712": "HYPERMETHYLATED IN CANCER 2; HIC2", "OMIM:607713": "FIBROBLAST GROWTH FACTOR-BINDING PROTEIN 2; FGFBP2", "OMIM:607714": "TNFAIP3-INTERACTING PROTEIN 1; TNIP1", "OMIM:607715": "TSC22 DOMAIN FAMILY, MEMBER 1; TSC22D1", "OMIM:607716": "SYNAPTOTAGMIN 13; SYT13", "OMIM:607717": "TENSIN 2; TNS2", "OMIM:607718": "SYNAPTOTAGMIN 6; SYT6", "OMIM:607719": "SYNAPTOTAGMIN 8; SYT8", "OMIM:607720": "TRANSLIN-ASSOCIATED FACTOR X-INTERACTING PROTEIN 1; TSNAXIP1", "OMIM:607722": "ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 2; EMC2", "OMIM:607723": "SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 1; SUN1", "OMIM:607724": "CALCYPHOSINE 2; CAPS2", "OMIM:607725": "POLY(ADP-RIBOSE) POLYMERASE 2; PARP2", "OMIM:607726": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 3; PARP3", "OMIM:607727": "CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED PROTEIN 1; CAND1", "OMIM:607728": "POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK4", "OMIM:607729": "DNA DAMAGE-INDUCIBLE TRANSCRIPT 4; DDIT4", "OMIM:607730": "DNA DAMAGE-INDUCIBLE TRANSCRIPT 4-LIKE; DDIT4L", "OMIM:607732": "STERILE ALPHA AND TIR MOTIFS-CONTAINING PROTEIN 1; SARM1", "OMIM:607733": "SCRIBBLE PLANAR CELL POLARITY PROTEIN; SCRIB", "OMIM:607735": "PROGESTERONE RECEPTOR MEMBRANE COMPONENT 2; PGRMC2", "OMIM:607737": "FIBROBLAST GROWTH FACTOR-BINDING PROTEIN 1; FGFBP1", "OMIM:607738": "POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 2; KCNB2", "OMIM:607740": "UBIQUITIN-SPECIFIC PROTEASE 32; USP32", "OMIM:607741": "TBC1 DOMAIN FAMILY, MEMBER 3; TBC1D3", "OMIM:607742": "KERATIN 24, TYPE I; KRT24", "OMIM:607743": "FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2; FRS2", "OMIM:607744": "FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 3; FRS3", "OMIM:607746": "FERM DOMAIN-CONTAINING KINDLIN 2; FERMT2", "OMIM:607747": "FILAMIN-BINDING LIM PROTEIN 1; FBLIM1", "OMIM:607749": "CELL DIVISION CYCLE-ASSOCIATED PROTEIN 3; CDCA3", "OMIM:607750": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3C; APOBEC3C", "OMIM:607751": "TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38", "OMIM:607752": "CYCLIN O; CCNO", "OMIM:607753": "SINGLE-STRAND-SELECTIVE MONOFUNCTIONAL URACIL-DNA GLYCOSYLASE 1; SMUG1", "OMIM:607754": "MAKORIN 1; MKRN1", "OMIM:607755": "MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 2; MAPK8IP2", "OMIM:607756": "ALPHA-AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE-PHOSPHOPANTETHEINYL TRANSFERASE; AASDHPPT", "OMIM:607757": "CHIBBY FAMILY, MEMBER 1, BETA-CATENIN ANTAGONIST; CBY1", "OMIM:607758": "CATENIN, BETA-INTERACTING PROTEIN 1; CTNNBIP1", "OMIM:607759": "INTEGRIN, ALPHA-2B; ITGA2B", "OMIM:607760": "DNA TOPOISOMERASE II-BINDING PROTEIN 1; TOPBP1", "OMIM:607761": "KIRRE-LIKE NEPHRIN FAMILY ADHESION MOLECULE 3; KIRREL3", "OMIM:607762": "KIRRE-LIKE NEPHRIN FAMILY ADHESION MOLECULE 2; KIRREL2", "OMIM:607763": "ARF-GAP WITH COILED-COIL, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS 1; ACAP1", "OMIM:607764": "3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE; HSD3B7", "OMIM:607766": "ARF-GAP WITH COILED-COIL, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS 2; ACAP2", "OMIM:607767": "SESTRIN 2; SESN2", "OMIM:607768": "SESTRIN 3; SESN3", "OMIM:607769": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4; PLEKHA4", "OMIM:607770": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 5; PLEKHA5", "OMIM:607771": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 6; PLEKHA6", "OMIM:607772": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 1; PLEKHA1", "OMIM:607773": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 2; PLEKHA2", "OMIM:607774": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 3; PLEKHA3", "OMIM:607775": "POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 4; KCNE4", "OMIM:607776": "SIN3 TRANSCRIPTION REGULATOR FAMILY MEMBER A; SIN3A", "OMIM:607777": "SIN3 TRANSCRIPTION REGULATOR FAMILY MEMBER B; SIN3B", "OMIM:607779": "PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 7; PAQR7", "OMIM:607780": "PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 8; PAQR8", "OMIM:607781": "PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 5; PAQR5", "OMIM:607782": "LUC7-LIKE; LUC7L", "OMIM:607783": "MESODERM DEVELOPMENT LRP CHAPERONE; MESD", "OMIM:607784": "ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 4; ABCG4", "OMIM:607786": "PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9", "OMIM:607787": "G PROTEIN-COUPLED RECEPTOR 180; GPR180", "OMIM:607788": "MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2; MCFD2", "OMIM:607789": "PHD FINGER PROTEIN 3; PHF3", "OMIM:607790": "TET METHYLCYTOSINE DIOXYGENASE 1; TET1", "OMIM:607792": "GERMINAL CENTER-ASSOCIATED, SIGNALING AND MOTILITY; GCSAM", "OMIM:607793": "PETER PAN, DROSOPHILA, HOMOLOG OF; PPAN", "OMIM:607794": "MEST INTRONIC TRANSCRIPT 1; MESTIT1", "OMIM:607795": "PRE-mRNA-PROCESSING FACTOR 4; PRPF4", "OMIM:607796": "PHD FINGER PROTEIN 11; PHF11", "OMIM:607797": "SMALL NUCLEAR RIBONUCLEOPROTEIN, 40-KD; SNRNP40", "OMIM:607798": "TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1-LIKE; TAF1L", "OMIM:607799": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 17; ZDHHC17", "OMIM:607800": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12", "OMIM:607802": "CYCLIN M1; CNNM1", "OMIM:607803": "CYCLIN M2; CNNM2", "OMIM:607804": "CYCLIN M3; CNNM3", "OMIM:607805": "CYCLIN M4; CNNM4", "OMIM:607806": "OTOPETRIN 1; OTOP1", "OMIM:607807": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 13; ABCA13", "OMIM:607808": "NK2 HOMEOBOX 4; NKX2-4", "OMIM:607809": "ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1", "OMIM:607810": "RADICAL S-ADENOSYL METHIONINE DOMAIN-CONTAINING PROTEIN 2; RSAD2", "OMIM:607811": "p21-ACTIVATED KINASE- AND PHOSPHOLIPASE C-INTERACTING PROTEIN 1; PAK1IP1", "OMIM:607813": "PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 4; PLPPR4", "OMIM:607814": "REGULATOR OF G PROTEIN SIGNALING 9-BINDING PROTEIN; RGS9BP", "OMIM:607815": "ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 1B; ANKS1B", "OMIM:607816": "POLYCOMB GROUP RING FINGER PROTEIN 6; PCGF6", "OMIM:607817": "VACUOLAR PROTEIN SORTING 13 HOMOLOG B; VPS13B", "OMIM:607818": "ZINC FINGER PROTEIN 365; ZNF365", "OMIM:607819": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5", "OMIM:607820": "HOOK MICROTUBULE TETHERING PROTEIN 1; HOOK1", "OMIM:607824": "HOOK MICROTUBULE TETHERING PROTEIN 2; HOOK2", "OMIM:607825": "HOOK MICROTUBULE TETHERING PROTEIN 3; HOOK3", "OMIM:607826": "ADENOSYLHOMOCYSTEINASE-LIKE 1; AHCYL1", "OMIM:607827": "OTOPETRIN 2; OTOP2", "OMIM:607828": "OTOPETRIN 3; OTOP3", "OMIM:607830": "FRASER EXTRACELLULAR MATRIX COMPLEX SUBUNIT 1; FRAS1", "OMIM:607833": "TACHYKININ 4; TAC4", "OMIM:607834": "ANXIETY", "OMIM:607835": "SPLICING FACTOR 3B, SUBUNIT 6; SF3B6", "OMIM:607837": "CLN8 TRANSMEMBRANE ER AND ERGIC PROTEIN; CLN8", "OMIM:607838": "N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG", "OMIM:607839": "GLYCOGEN BRANCHING ENZYME; GBE1", "OMIM:607840": "N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB", "OMIM:607843": "PKHD1-LIKE 1; PKHD1L1", "OMIM:607844": "LEM DOMAIN-CONTAINING PROTEIN 3; LEMD3", "OMIM:607845": "EXPORTIN 5; XPO5", "OMIM:607846": "METHYLTRANSFERASE 2B, METHYLCYTIDINE; METTL2B", "OMIM:607848": "RAB-INTERACTING LYSOSOMAL PROTEIN; RILP", "OMIM:607849": "RETINOL DEHYDROGENASE 11; RDH11", "OMIM:607851": "NKD INHIBITOR OF WNT SIGNALING PATHWAY 1; NKD1", "OMIM:607852": "NKD INHIBITOR OF WNT SIGNALING PATHWAY 2; NKD2", "OMIM:607853": "PANIC DISORDER 2; PAND2", "OMIM:607854": "BESTROPHIN 1; BEST1", "OMIM:607856": "CINGULIN-LIKE 1; CGNL1", "OMIM:607857": "PSORIASIS 9, SUSCEPTIBILITY TO; PSORS9", "OMIM:607858": "PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; PARL", "OMIM:607860": "YY1 ASSOCIATED PROTEIN 1; YY1AP1", "OMIM:607861": "DAPPER, ANTAGONIST OF BETA-CATENIN, 1; DACT1", "OMIM:607862": "DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 1; DIRAS1", "OMIM:607863": "DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 2; DIRAS2", "OMIM:607865": "SET DOMAIN PROTEIN, BIFURCATED, 2; SETDB2", "OMIM:607866": "SPRY DOMAIN-CONTAINING PROTEIN 7; SPRYD7", "OMIM:607867": "RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 1; RCBTB1", "OMIM:607868": "TRIPARTITE MOTIF-CONTAINING PROTEIN 11; TRIM11", "OMIM:607869": "UNC5 NETRIN RECEPTOR A; UNC5A", "OMIM:607870": "UNC5 NETRIN RECEPTOR B; UNC5B", "OMIM:607871": "F-BOX ONLY PROTEIN 11; FBXO11", "OMIM:607873": "SCAVENGER RECEPTOR CLASS F, MEMBER 1; SCARF1", "OMIM:607874": "ZINC FINGER PROTEIN 444; ZNF444", "OMIM:607875": "INOSITOL POLYPHOSPHATE-5-PHOSPHATASE K; INPP5K", "OMIM:607877": "OTOSPIRALIN", "OMIM:607878": "NICOTINAMIDE NUCLEOTIDE TRANSHYDROGENASE; NNT", "OMIM:607879": "EXOCYST COMPLEX COMPONENT 1; EXOC1", "OMIM:607880": "EXOCYST COMPLEX COMPONENT 6B; EXOC6B", "OMIM:607881": "SIGNAL-TRANSDUCING ADAPTOR PROTEIN 2", "OMIM:607882": "SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; SLC52A2", "OMIM:607883": "SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 1; SLC52A1", "OMIM:607884": "CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 1; CMTM1", "OMIM:607885": "CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 2; CMTM2", "OMIM:607886": "CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 3; CMTM3", "OMIM:607887": "CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 4; CMTM4", "OMIM:607888": "CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 5; CMTM5", "OMIM:607889": "CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 6; CMTM6", "OMIM:607890": "CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 7; CMTM7", "OMIM:607891": "CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 8; CMTM8", "OMIM:607892": "DESMOGLEIN 4; DSG4", "OMIM:607893": "OVARIAN CANCER, SUSCEPTIBILITY TO, 1; OVCAS1", "OMIM:607894": "POLYCYSTIN 1-LIKE 2; PKD1L2", "OMIM:607895": "POLYCYSTIN 1-LIKE 3; PKD1L3", "OMIM:607896": "OVCA2 SERINE HYDROLASE DOMAIN-CONTAINING PROTEIN; OVCA2", "OMIM:607897": "MUSASHI RNA BINDING PROTEIN 2; MSI2", "OMIM:607898": "TRIBBLES PSEUDOKINASE 3; TRIB3", "OMIM:607899": "WT1 ANTISENSE RNA; WT1AS", "OMIM:607900": "FERM DOMAIN-CONTAINING KINDLIN 1; FERMT1", "OMIM:607901": "FERM DOMAIN-CONTAINING KINDLIN 3; FERMT3", "OMIM:607902": "SNURPORTIN 1; SNUPN", "OMIM:607904": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H", "OMIM:607905": "ALG2 ALPHA-1,3/1,6-MANNOSYLTRANSFERASE; ALG2", "OMIM:607907": "DERMATOFIBROSARCOMA PROTUBERANS; DFSP", "OMIM:607908": "LIM ZINC FINGER DOMAIN-CONTAINING PROTEIN 2; LIMS2", "OMIM:607909": "ANTIZYME INHIBITOR 1; AZIN1", "OMIM:607910": "KINESIN FAMILY MEMBER 9; KIF9", "OMIM:607911": "EPM2A-INTERACTING PROTEIN 1; EPM2AIP1", "OMIM:607912": "SELENOPROTEIN T; SELENOT", "OMIM:607913": "GLUTATHIONE PEROXIDASE 6; GPX6", "OMIM:607914": "SELENOPROTEIN H; SELENOH", "OMIM:607915": "SELENOPROTEIN I; SELENOI", "OMIM:607916": "SELENOPROTEIN K; SELENOK", "OMIM:607917": "SELENOPROTEIN O; SELENOO", "OMIM:607918": "SELENOPROTEIN S; SELENOS", "OMIM:607919": "SELENOPROTEIN V; SELENOV", "OMIM:607922": "ALPHA-1,4-GALACTOSYLTRANSFERASE; A4GALT", "OMIM:607923": "SYNAPTOSOMAL-ASSOCIATED PROTEIN, 91-KD; SNAP91", "OMIM:607924": "METASTASIS-ASSOCIATED LUNG ADENOCARCINOMA TRANSCRIPT 1; MALAT1", "OMIM:607925": "B- AND T-LYMPHOCYTE ATTENUATOR; BTLA", "OMIM:607926": "HOST CELL FACTOR C2; HCFC2", "OMIM:607927": "ANKYRIN REPEATS- AND FYVE DOMAIN-CONTAINING PROTEIN 1; ANKFY1", "OMIM:607928": "WHIRLIN; WHRN", "OMIM:607929": "CCM2 SCAFFOLD PROTEIN; CCM2", "OMIM:607930": "CYTOKINE-LIKE PROTEIN 1; CYTL1", "OMIM:607931": "ATAXIN 2-LIKE; ATXN2L", "OMIM:607933": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 11; SLC7A11", "OMIM:607934": "PEPTIDYLARGININE DEIMINASE, TYPE I; PADI1", "OMIM:607935": "PEPTIDYLARGININE DEIMINASE, TYPE II; PADI2", "OMIM:607937": "NANOG HOMEOBOX; NANOG", "OMIM:607938": "NEUROTRIMIN; NTM", "OMIM:607939": "SULFATASE-MODIFYING FACTOR 1; SUMF1", "OMIM:607940": "SULFATASE-MODIFYING FACTOR 2; SUMF2", "OMIM:607942": "PHOSPHOINOSITIDE 3-KINASE ADAPTOR PROTEIN 1; PIK3AP1", "OMIM:607943": "RAS p21 PROTEIN ACTIVATOR 4; RASA4", "OMIM:607945": "ADIPONECTIN RECEPTOR 1; ADIPOR1", "OMIM:607946": "ADIPONECTIN RECEPTOR 2; ADIPOR2", "OMIM:607947": "POTASSIUM CHANNEL REGULATOR; KCNRG", "OMIM:607948": "MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "OMIM:607949": "MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1", "OMIM:607950": "TESTIS-SPECIFIC PROTEASE 50", "OMIM:607951": "CENTROSOMAL PROTEIN, 57-KD; CEP57", "OMIM:607952": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 11; SLC6A11", "OMIM:607953": "TRANSGELIN 3; TAGLN3", "OMIM:607954": "RAN GUANINE NUCLEOTIDE RELEASE FACTOR; RANGRF", "OMIM:607955": "SAM- AND SH3 DOMAIN-CONTAINING PROTEIN 1; SASH1", "OMIM:607956": "MEDIATOR COMPLEX SUBUNIT 8; MED8", "OMIM:607957": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-DELTA; CAMK1D", "OMIM:607958": "SYNTAXIN-BINDING PROTEIN 6; STXBP6", "OMIM:607959": "SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 10; SLC7A10", "OMIM:607960": "DEAH-BOX HELICASE 32, PUTATIVE; DHX32", "OMIM:607961": "SEMAPHORIN 7A; SEMA7A", "OMIM:607962": "MICRO RNA 23A; MIR23A", "OMIM:607963": "METHYL-CpG BINDING DOMAIN PROTEIN 3-LIKE 1; MBD3L1", "OMIM:607964": "METHYL-CpG BINDING DOMAIN PROTEIN 3-LIKE 2; MBD3L2", "OMIM:607965": "SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1; SLEN1", "OMIM:607966": "SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2; SLEN2", "OMIM:607967": "SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3; SLEN3", "OMIM:607968": "PARATHYROID HORMONE-RESPONSIVE B1 GENE", "OMIM:607969": "CDC-LIKE KINASE 4; CLK4", "OMIM:607970": "G PROTEIN-COUPLED RECEPTOR 135; GPR135", "OMIM:607971": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 15; SLC6A15", "OMIM:607972": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 16; SLC6A16", "OMIM:607973": "NEUROPILIN- AND TOLLOID-LIKE 1; NETO1", "OMIM:607974": "NEUROPILIN- AND TOLLOID-LIKE 2; NETO2", "OMIM:607975": "OXIDATIVE STRESS-INDUCED GROWTH INHIBITOR 1; OSGIN1", "OMIM:607976": "CYTOCHROME c OXIDASE, SUBUNIT 4I2; COX4I2", "OMIM:607977": "HDC HOMOLOG, CELL CYCLE REGULATOR; HECA", "OMIM:607978": "SAM DOMAIN, SH3 DOMAIN, AND NUCLEAR LOCALIZATION SIGNALS 1; SAMSN1", "OMIM:607979": "SERINE HYDROLASE-LIKE, PSEUDOGENE; SERHL", "OMIM:607980": "TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 7; TOMM7", "OMIM:607981": "NEGATIVE REGULATOR OF UBIQUITIN-LIKE PROTEINS 1; NUB1", "OMIM:607982": "SCY1-LIKE 1; SCYL1", "OMIM:607983": "GOLGIN, RAB6-INTERACTING; GORAB", "OMIM:607984": "SPROUTY RTK SIGNALING ANTAGONIST 4; SPRY4", "OMIM:607985": "N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE; NAGPA", "OMIM:607986": "S100 CALCIUM-BINDING PROTEIN A14; S100A14", "OMIM:607987": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 10; DNAJC10", "OMIM:607988": "SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN 2; SPOCK2", "OMIM:607989": "SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN 3; SPOCK3", "OMIM:607990": "UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1", "OMIM:607991": "SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A3; SLC8A3", "OMIM:607992": "SURP AND G-PATCH DOMAINS-CONTAINING PROTEIN 1; SUGP1", "OMIM:607993": "SURP AND G-PATCH DOMAINS-CONTAINING PROTEIN 2; SUGP2", "OMIM:607994": "5-PRIME,3-PRIME-EXORIBONUCLEASE 1; XRN1", "OMIM:607995": "UNC93 HOMOLOG A; UNC93A", "OMIM:607996": "PREPRONEUROPEPTIDE B", "OMIM:607997": "NEUROPEPTIDE W; NPW", "OMIM:607998": "TRIPEPTIDYL PEPTIDASE I; TPP1", "OMIM:607999": "ASH1-LIKE HISTONE LYSINE METHYLTRANSFERASE; ASH1L", "OMIM:608000": "N-ALPHA-ACETYLTRANSFERASE 15, NatA AUXILIARY SUBUNIT; NAA15", "OMIM:608002": "NEPHROCYSTIN 3; NPHP3", "OMIM:608003": "HOMEODOMAIN-INTERACTING PROTEIN KINASE 1; HIPK1", "OMIM:608004": "NUCLEAR FACTOR KAPPA-B INHIBITOR, ZETA; NFKBIZ", "OMIM:608005": "SIL1 NUCLEOTIDE EXCHANGE FACTOR; SIL1", "OMIM:608006": "LEIOMODIN 2; LMOD2", "OMIM:608007": "PLECKSTRIN 2; PLEK2", "OMIM:608008": "ANNEXIN A10; ANXA10", "OMIM:608009": "ADENYLATE KINASE 5; AK5", "OMIM:608010": "NPC1-LIKE INTRACELLULAR CHOLESTEROL TRANSPORTER 1; NPC1L1", "OMIM:608011": "GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 3; GNL3", "OMIM:608012": "PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 2; PDIA2", "OMIM:608014": "HEAT-SHOCK 22-KD PROTEIN 8; HSPB8", "OMIM:608015": "TSUKUSHIN; TSKU", "OMIM:608016": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR 4 HOMOLOG; COA4", "OMIM:608017": "FAMILY WITH SEQUENCE SIMILARITY 162, MEMBER A; FAM162A", "OMIM:608018": "PROTEASE, SERINE, 27; PRSS27", "OMIM:608019": "TNFAIP3-INTERACTING PROTEIN 3; TNIP3", "OMIM:608020": "NUCLEOBINDIN 2; NUCB2", "OMIM:608021": "WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING PROTEIN 1; WFIKKN1", "OMIM:608023": "DEAD-BOX HELICASE 56; DDX56", "OMIM:608024": "ENOYL-CoA DELTA ISOMERASE 2; ECI2", "OMIM:608025": "NBAS SUBUNIT OF NRZ TETHERING COMPLEX; NBAS", "OMIM:608026": "HYPERTENSIVE NEPHROPATHY; HNP1", "OMIM:608028": "THAI SYMPHALANGISM SYNDROME", "OMIM:608031": "AMYOTROPHIC LATERAL SCLEROSIS 7; ALS7", "OMIM:608034": "ASPARTOACYLASE; ASPA", "OMIM:608035": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4; CMM4", "OMIM:608036": "TYPE 2 DIABETES MELLITUS 4; T2D4", "OMIM:608037": "CHONDROITIN POLYMERIZING FACTOR 2; CHPF2", "OMIM:608038": "p21 PROTEIN-ACTIVATED KINASE 5; PAK5", "OMIM:608039": "SPERMATOGENESIS-ASSOCIATED PROTEIN 9; SPATA9", "OMIM:608040": "INTRAFLAGELLAR TRANSPORT 74; IFT74", "OMIM:608041": "ANTHRAX TOXIN RECEPTOR 2; ANTXR2", "OMIM:608042": "SYNAPTOTAGMIN-LIKE 1; SYTL1", "OMIM:608043": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 10; GALNT10", "OMIM:608044": "SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8", "OMIM:608045": "REPRESSOR OF TELOMERASE EXPRESSION 1", "OMIM:608046": "SYNOVIAL APOPTOSIS INHIBITOR 1; SYVN1", "OMIM:608047": "UBIQUITIN-PROTEIN LIGASE E3B; UBE3B", "OMIM:608048": "SNF2, LINKER HISTONE, PHD FINGER, RING FINGER, AND HELICASE DOMAINS-CONTAINING PROTEIN; SHPRH", "OMIM:608050": "TORSIN 1B; TOR1B", "OMIM:608052": "TORSIN 2A; TOR2A", "OMIM:608053": "ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA", "OMIM:608054": "CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 7; CYP2A7", "OMIM:608055": "CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 13; CYP2A13", "OMIM:608057": "DEOXYRIBONUCLEASE II BETA; DNASE2B", "OMIM:608058": "GLUCOSE-6-PHOSPHATASE, CATALYTIC, 2; G6PC2", "OMIM:608059": "HES FAMILY bHLH TRANSCRIPTION FACTOR 7; HES7", "OMIM:608060": "HES FAMILY bHLH TRANSCRIPTION FACTOR 4; HES4", "OMIM:608061": "TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 40; TOMM40", "OMIM:608062": "DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 1; DCDC1", "OMIM:608063": "BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF", "OMIM:608064": "KELCH-LIKE 5; KLHL5", "OMIM:608065": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 4; SLC38A4", "OMIM:608066": "SCAFFOLD ATTACHMENT FACTOR B2; SAFB2", "OMIM:608067": "RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 2; RFWD2", "OMIM:608068": "NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE; AFND", "OMIM:608069": "ERBB RECEPTOR FEEDBACK INHIBITOR 1; ERRFI1", "OMIM:608070": "HOMOCYSTEINE- AND ENDOPLASMIC RETICULUM STRESS-INDUCIBLE PROTEIN, UBIQUITIN-LIKE DOMAIN-CONTAINING, 1; HERPUD1", "OMIM:608071": "F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4", "OMIM:608072": "NHL REPEAT-CONTAINING PROTEIN 1; NHLRC1", "OMIM:608073": "NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 2; NPM2", "OMIM:608074": "PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN; PDCD6IP", "OMIM:608075": "PHOSPHOLIPASE C, ZETA-1; PLCZ1", "OMIM:608076": "TYROSINE KINASE, NONRECEPTOR, 1; TNK1", "OMIM:608077": "PURINERGIC RECEPTOR P2X-LIKE 1; P2RXL1", "OMIM:608078": "SCHIZOPHRENIA 11", "OMIM:608079": "ELAC RIBONUCLEASE Z 1; ELAC1", "OMIM:608080": "MAESTRO; MRO", "OMIM:608081": "SYNAPTOTAGMIN 15; SYT15", "OMIM:608082": "YIPPEE-LIKE 1; YPEL1", "OMIM:608083": "APOLIPOPROTEIN C-II; APOC2", "OMIM:608084": "GTPase, IMAP FAMILY, MEMBER 1; GIMAP1", "OMIM:608085": "GTPase, IMAP FAMILY, MEMBER 2; GIMAP2", "OMIM:608086": "GTPase, IMAP FAMILY, MEMBER 5; GIMAP5", "OMIM:608087": "GTPase, IMAP FAMILY, MEMBER 4; GIMAP4", "OMIM:608090": "MLX-INTERACTING PROTEIN; MLXIP", "OMIM:608092": "PALLADIN, CYTOSKELETAL-ASSOCIATED PROTEIN; PALLD", "OMIM:608094": "SOLUTE CARRIER FAMILY 37 (SUGAR-PHOSPHATE TRANSPORTER), MEMBER 1; SLC37A1", "OMIM:608095": "SODIUM CHANNEL MODIFIER 1; SCNM1", "OMIM:608098": "PERIVENTRICULAR NODULAR HETEROTOPIA 3; PVNH3", "OMIM:608100": "NFU1 IRON-SULFUR CLUSTER SCAFFOLD; NFU1", "OMIM:608101": "SPERMATID-SPECIFIC LINKER HISTONE H1-LIKE PROTEIN", "OMIM:608102": "CLN5 INTRACELLULAR TRAFFICKING PROTEIN; CLN5", "OMIM:608103": "ALG8 ALPHA-1,3-GLUCOSYLTRANSFERASE; ALG8", "OMIM:608107": "MEFV INNATE IMMUNITY REGULATOR, PYRIN; MEFV", "OMIM:608108": "CRANIOFACIAL DEVELOPMENT PROTEIN 1; CFDP1", "OMIM:608109": "PSEUDOURIDINE SYNTHASE 1; PUS1", "OMIM:608110": "p21 PROTEIN-ACTIVATED KINASE 6; PAK6", "OMIM:608111": "FANCL GENE; FANCL", "OMIM:608112": "TRAFFICKING PROTEIN, KINESIN-BINDING 1; TRAK1", "OMIM:608113": "SARCOGLYCAN, ZETA; SGCZ", "OMIM:608114": "ARFGAP WITH DUAL PLECKSTRIN HOMOLOGY DOMAINS 1; ADAP1", "OMIM:608116": "HEDGEHOG ACYLTRANSFERASE-LIKE PROTEIN; HHATL", "OMIM:608117": "PHOSPHODIESTERASE 4D-INTERACTING PROTEIN; PDE4DIP", "OMIM:608119": "HOMEODOMAIN LEUCINE ZIPPER-CONTAINING FACTOR; HOMEZ", "OMIM:608120": "PARVIN, ALPHA; PARVA", "OMIM:608121": "PARVIN, BETA; PARVB", "OMIM:608122": "PARVIN, GAMMA; PARVG", "OMIM:608123": "ACYL-CoA THIOESTERASE 8; ACOT8", "OMIM:608124": "XYLOSYLTRANSFERASE 1; XYLT1", "OMIM:608125": "XYLOSYLTRANSFERASE 2; XYLT2", "OMIM:608126": "WD REPEAT AND HMG-BOX DNA-BINDING PROTEIN 1; WDHD1", "OMIM:608127": "PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 4; PBX4", "OMIM:608129": "UBIQUITIN-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1; UBAC1", "OMIM:608130": "NUAK FAMILY, SNF1-LIKE KINASE, 1; NUAK1", "OMIM:608131": "NUAK FAMILY, SNF1-LIKE KINASE, 2; NUAK2", "OMIM:608132": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 8; TTC8", "OMIM:608134": "PARALEMMIN; PALM", "OMIM:608135": "ASPORIN; ASPN", "OMIM:608136": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10; ARHGEF10", "OMIM:608137": "NMDA RECEPTOR SYNAPTONUCLEAR SIGNALING AND NEURONAL MIGRATION FACTOR; NSMF", "OMIM:608138": "PROGRAMMED CELL DEATH 7; PDCD7", "OMIM:608139": "CENTROMERE PROTEIN V; CENPV", "OMIM:608140": "NUCLEOPORIN, 35-KD; NUP35", "OMIM:608141": "NUCLEOPORIN, 43-KD; NUP43", "OMIM:608142": "HSCB MITOCHONDRIAL IRON-SULFUR CLUSTER COCHAPERONE; HSCB", "OMIM:608143": "1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 6; AGPAT6", "OMIM:608144": "SAM POINTED DOMAIN-CONTAINING ETS TRANSCRIPTION FACTOR; SPDEF", "OMIM:608145": "NIPA MAGNESIUM TRANSPORTER 1; NIPA1", "OMIM:608146": "NIPA MAGNESIUM TRANSPORTER 2; NIPA2", "OMIM:608147": "TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 5; TUBGCP5", "OMIM:608148": "SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2", "OMIM:608150": "PERIPHILIN 1; PPHLN1", "OMIM:608151": "WD REPEAT-CONTAINING PROTEIN 19; WDR19", "OMIM:608152": "PROSTAGLANDIN E SYNTHASE 2; PTGES2", "OMIM:608153": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14A; PPP1R14A", "OMIM:608155": "SYNAPTOPODIN; SYNPO", "OMIM:608157": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 2; SLC25A2", "OMIM:608158": "CoQ-RESPONSIVE OXPHOS DEFICIENCY", "OMIM:608159": "PROTEASE, SERINE, 21; PRSS21", "OMIM:608160": "SRY-BOX 9; SOX9", "OMIM:608162": "V-SET DOMAIN-CONTAINING T-CELL ACTIVATION INHIBITOR 1; VTCN1", "OMIM:608163": "EXOCYST COMPLEX COMPONENT 7; EXOC7", "OMIM:608164": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 1; KCNV1", "OMIM:608165": "PTB DOMAIN-CONTAINING ENGULFMENT ADAPTOR PROTEIN 1; GULP1", "OMIM:608166": "SEMAPHORIN 3E; SEMA3E", "OMIM:608167": "POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 1; KCNT1", "OMIM:608168": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 6; KCNH6", "OMIM:608169": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 7; KCNH7", "OMIM:608170": "DEAD-BOX HELICASE 41; DDX41", "OMIM:608171": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 4; CACNA2D4", "OMIM:608172": "DEHYDRODOLICHYL DIPHOSPHATE SYNTHASE; DHDDS", "OMIM:608173": "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1", "OMIM:608174": "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2", "OMIM:608176": "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4", "OMIM:608177": "EXOSTOSIN GLYCOSYLTRANSFERASE 1; EXT1", "OMIM:608178": "LEUCINE ZIPPER PROTEIN 2; LUZP2", "OMIM:608179": "CAYTAXIN; ATCAY", "OMIM:608181": "ACIDIC CLUSTER PROTEIN, 33-KD; ACP33", "OMIM:608182": "POTASSIUM CHANNEL-INTERACTING PROTEIN 4", "OMIM:608183": "CHONDROITIN SULFATE SYNTHASE 1; CHSY1", "OMIM:608185": "EXOCYST COMPLEX COMPONENT 4; EXOC4", "OMIM:608186": "EXOCYST COMPLEX COMPONENT 3; EXOC3", "OMIM:608187": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 8; MCM8", "OMIM:608188": "CARDIOLIPIN SYNTHASE 1; CRLS1", "OMIM:608190": "N-ACETYLTRANSFERASE 8B; NAT8B", "OMIM:608191": "RB-ASSOCIATED KRAB ZINC FINGER; RBAK", "OMIM:608192": "SCY1-LIKE PROTEIN 3; SCYL3", "OMIM:608193": "REC8 MEIOTIC RECOMBINATION PROTEIN; REC8", "OMIM:608195": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 1; LRRC1", "OMIM:608196": "WERNER HELICASE-INTERACTING PROTEIN 1; WRNIP1", "OMIM:608197": "PEPTIDOGLYCAN RECOGNITION PROTEIN 3; PGLYRP3", "OMIM:608198": "PEPTIDOGLYCAN RECOGNITION PROTEIN 4; PGLYRP4", "OMIM:608199": "PEPTIDOGLYCAN RECOGNITION PROTEIN 2; PGLYRP2", "OMIM:608200": "CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1; CDK5RAP1", "OMIM:608201": "CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2", "OMIM:608202": "CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 3; CDK5RAP3", "OMIM:608204": "UNC93 HOMOLOG B1, TLR SIGNALING REGULATOR; UNC93B1", "OMIM:608205": "MITOCHONDRIAL TRANS-2-ENOYL-CoA REDUCTASE; MECR", "OMIM:608206": "SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2", "OMIM:608207": "KALA-AZAR, SUSCEPTIBILITY TO, 1; KAZA1", "OMIM:608208": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 4; MARCHF4", "OMIM:608209": "DIPEPTIDYL PEPTIDASE X; DPP10", "OMIM:608210": "EXOSTOSIN GLYCOSYLTRANSFERASE 2; EXT2", "OMIM:608211": "KIDNEY-ASSOCIATED ANTIGEN 1; KAAG1", "OMIM:608212": "IMMUNITY-RELATED GTPase M; IRGM", "OMIM:608213": "CELL CYCLE EXIT AND NEURONAL DIFFERENTIATION 1; CEND1", "OMIM:608214": "SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 3; SCN3B", "OMIM:608215": "LIM HOMEOBOX GENE 6; LHX6", "OMIM:608216": "COMM DOMAIN-CONTAINING PROTEIN 5; COMMD5", "OMIM:608218": "KERATIN 20, TYPE I; KRT20", "OMIM:608221": "MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE-LIKE; MASTL", "OMIM:608222": "ADENYLOSUCCINATE LYASE; ADSL", "OMIM:608223": "ASPIRIN RESISTANCE", "OMIM:608225": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 14; GALNT14", "OMIM:608226": "NANOS C2HC-TYPE ZINC FINGER 1; NANOS1", "OMIM:608228": "NANOS C2HC-TYPE ZINC FINGER 2; NANOS2", "OMIM:608229": "NANOS C2HC-TYPE ZINC FINGER 3; NANOS3", "OMIM:608230": "CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1I SUBUNIT; CACNA1I", "OMIM:608231": "RAS ASSOCIATION DOMAIN FAMILY, MEMBER 8; RASSF8", "OMIM:608234": "GALACTOSE-3-O-SULFOTRANSFERASE 3; GAL3ST3", "OMIM:608235": "GALACTOSE-3-O-SULFOTRANSFERASE 4; GAL3ST4", "OMIM:608237": "GALACTOSE-3-O-SULFOTRANSFERASE 2; GAL3ST2", "OMIM:608238": "SIGNAL PEPTIDE PEPTIDASE-LIKE 2A; SPPL2A", "OMIM:608239": "SIGNAL PEPTIDE PEPTIDASE-LIKE 2B; SPPL2B", "OMIM:608240": "SIGNAL PEPTIDE PEPTIDASE-LIKE 3; SPPL3", "OMIM:608241": "SMAD NUCLEAR INTERACTING PROTEIN 1; SNIP1", "OMIM:608242": "HECT DOMAIN AND RCC1-LIKE DOMAIN 5; HERC5", "OMIM:608243": "NSE3 HOMOLOG, SMC5-SMC6 COMPLEX COMPONENT; NSMCE3", "OMIM:608245": "KERATIN 71, TYPE II; KRT71", "OMIM:608246": "KERATIN 72, TYPE II; KRT72", "OMIM:608247": "KERATIN 73, TYPE II; KRT73", "OMIM:608248": "KERATIN 74, TYPE II; KRT74", "OMIM:608249": "CYCLIN B1 INTERACTING PROTEIN 1; CCNB1IP1", "OMIM:608250": "SDS3 HOMOLOG, SIN3A COREPRESSOR COMPLEX COMPONENT; SUDS3", "OMIM:608251": "PHOBIA, SPECIFIC", "OMIM:608252": "ACTIN FILAMENT-ASSOCIATED PROTEIN 1; AFAP1", "OMIM:608253": "TESTIS-SPECIFIC KINASE SUBSTRATE; TSKS", "OMIM:608254": "PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1; PAXIP1", "OMIM:608255": "TRAF3-INTERACTING PROTEIN 3; TRAF3IP3", "OMIM:608256": "SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 4; SCN4B", "OMIM:608258": "DIPEPTIDYL PEPTIDASE IX; DPP9", "OMIM:608259": "INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 3; IGF2BP3", "OMIM:608260": "POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 8; KCNH8", "OMIM:608261": "SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 2; SENP2", "OMIM:608262": "DISRUPTED IN RENAL CARCINOMA 3; DIRC3", "OMIM:608263": "HEAT-SHOCK 27-KD PROTEIN-ASSOCIATED PROTEIN 1; HSPBAP1", "OMIM:608267": "RAS-RELATED GTP-BINDING PROTEIN C; RRAGC", "OMIM:608268": "RAS-RELATED GTP-BINDING PROTEIN D; RRAGD", "OMIM:608269": "SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 3; SLC28A3", "OMIM:608270": "THREONINE ASPARTASE 1; TASP1", "OMIM:608271": "MICROTUBULE-ACTIN CROSS-LINKING FACTOR 1; MACF1", "OMIM:608272": "NEURAMINIDASE 1; NEU1", "OMIM:608273": "INTERLEUKIN 27; IL27", "OMIM:608274": "PROTEIN ARGININE METHYLTRANSFERASE 6; PRMT6", "OMIM:608275": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 15; SLC22A15", "OMIM:608276": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 16; SLC22A16", "OMIM:608277": "CARBOHYDRATE SULFOTRANSFERASE 15; CHST15", "OMIM:608278": "GROWTH FAILURE, MICROCEPHALY, IMPAIRED INTELLECTUAL DEVELOPMENT, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR ATROPHY", "OMIM:608279": "CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS", "OMIM:608280": "GROWTH ARREST-SPECIFIC 5; GAS5", "OMIM:608281": "SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES", "OMIM:608282": "TRACE AMINE-ASSOCIATED RECEPTOR 9; TAAR9", "OMIM:608283": "KINESIN FAMILY MEMBER 21A; KIF21A", "OMIM:608284": "INTRAMEMBRANE PROTEASE 5", "OMIM:608285": "NAD SYNTHETASE 1; NADSYN1", "OMIM:608286": "PROTOCADHERIN 10; PCDH10", "OMIM:608287": "PROTOCADHERIN 18; PCDH18", "OMIM:608288": "INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 1; IGF2BP1", "OMIM:608289": "INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 2; IGF2BP2", "OMIM:608290": "LELIS SYNDROME", "OMIM:608291": "TUBULIN-TYROSINE LIGASE; TTL", "OMIM:608292": "STOMATIN-LIKE PROTEIN 2; STOML2", "OMIM:608293": "RHO GTPase-ACTIVATING PROTEIN 17; ARHGAP17", "OMIM:608294": "NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 6; NME6", "OMIM:608295": "FAMILY WITH SEQUENCE SIMILARITY 107, MEMBER A; FAM107A", "OMIM:608296": "FIBROBLAST GROWTH FACTOR, ACIDIC, INTRACELLULAR BINDING PROTEIN; FIBP", "OMIM:608297": "REMOVED FROM DATABASE", "OMIM:608298": "COILED-COIL DOMAIN-CONTAINING PROTEIN 80; CCDS80", "OMIM:608299": "RING FINGER PROTEIN 34; RNF34", "OMIM:608300": "N-ACETYLGLUTAMATE SYNTHASE; NAGS", "OMIM:608301": "LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 2; LGI2", "OMIM:608302": "LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 3; LGI3", "OMIM:608303": "LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 4; LGI4", "OMIM:608304": "CANCER/TESTIS ANTIGEN 3; CTAG3", "OMIM:608305": "SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5", "OMIM:608306": "TRANSCRIPTION FACTOR Sp8; SP8", "OMIM:608307": "CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1", "OMIM:608308": "ANKYRIN REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 1; ABTB1", "OMIM:608309": "PTEN-INDUCED KINASE 1; PINK1", "OMIM:608310": "ARGININOSUCCINATE LYASE; ASL", "OMIM:608311": "GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL D-ASPARTATE-LIKE 1B; GRINL1B", "OMIM:608312": "POLYMERASE I, RNA, SUBUNIT F; POLR1F", "OMIM:608313": "ARGINASE 1; ARG1", "OMIM:608314": "SEPTIN 3; SEPT3", "OMIM:608315": "ELL-ASSOCIATED FACTOR 1; EAF1", "OMIM:608316": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2", "OMIM:608317": "GRAINYHEAD-LIKE 3; GRHL3", "OMIM:608318": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4", "OMIM:608321": "TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 2; TICAM2", "OMIM:608322": "KINESIN FAMILY MEMBER 21B; KIF21B", "OMIM:608324": "SMALL INTEGRAL MEMBRANE PROTEIN 3; SMIM3", "OMIM:608325": "PHD FINGER PROTEIN 21A; PHF21A", "OMIM:608326": "STOMATIN-LIKE PROTEIN 1; STOML1", "OMIM:608327": "STOMATIN-LIKE PROTEIN 3; STOML3", "OMIM:608329": "MYELIN REGULATORY FACTOR; MYRF", "OMIM:608330": "PRE-mRNA-PROCESSING FACTOR 19; PRPF19", "OMIM:608331": "SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 2; SLC36A2", "OMIM:608332": "SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 3; SLC36A3", "OMIM:608333": "DOCKING PROTEIN 4; DOK4", "OMIM:608334": "DOCKING PROTEIN 5; DOK5", "OMIM:608335": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY O, MEMBER 1; PLEKHO1", "OMIM:608336": "TRANSMEMBRANE PROTEIN, ADIPOCYTE-ASSOCIATED 1; TPRA1", "OMIM:608337": "OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 1; OTUB1", "OMIM:608338": "OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 2; OTUB2", "OMIM:608339": "SYNTAXIN-BINDING PROTEIN 3; STXBP3", "OMIM:608341": "CYTOCHROME b5 REDUCTASE 1; CYB5R1", "OMIM:608342": "CYTOCHROME b5 REDUCTASE 2; CYB5R2", "OMIM:608343": "CYTOCHROME b5 REDUCTASE 4; CYB5R4", "OMIM:608344": "HEAT-SHOCK 27-KD PROTEIN 9; HSPB9", "OMIM:608347": "DICARBONYL/L-XYLULOSE REDUCTASE; DCXR", "OMIM:608348": "BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA", "OMIM:608349": "HEMATOPOIETIC SH2 DOMAIN-CONTAINING PROTEIN; HSH2D", "OMIM:608350": "ENDOMUCIN; EMCN", "OMIM:608351": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 11; IGSF11", "OMIM:608352": "ACROSIN-BINDING PROTEIN; ACRBP", "OMIM:608353": "ANTIZYME INHIBITOR 2; AZIN2", "OMIM:608356": "OUTER DENSE FIBER OF SPERM TAILS 3; ODF3", "OMIM:608357": "SULFOTRANSFERASE FAMILY 1C, MEMBER 4; SULT1C4", "OMIM:608359": "SULFOTRANSFERASE FAMILY 4A, MEMBER 1; SULT4A1", "OMIM:608360": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8A; LRRC8A", "OMIM:608362": "STATHMIN-LIKE 3; STMN3", "OMIM:608364": "LIM DOMAIN AND ACTIN-BINDING PROTEIN 1; LIMA1", "OMIM:608365": "T-COMPLEX PROTEIN 10-LIKE; TCP10L", "OMIM:608366": "CELL MIGRATION-INDUCING HYALURONIDASE 1; CEMIP", "OMIM:608368": "RAD9 CHECKPOINT CLAMP COMPONENT B; RAD9B", "OMIM:608369": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 13; GALNT13", "OMIM:608370": "STEAROYL-CoA DESATURASE 5; SCD5", "OMIM:608371": "OROFACIAL CLEFT 4; OFC4", "OMIM:608373": "SYNAPTOGYRIN 4; SYNGR4", "OMIM:608374": "HEMOJUVELIN BMP CORECEPTOR; HJV", "OMIM:608375": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; DNAJC6", "OMIM:608376": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 12; DNAJB12", "OMIM:608377": "ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 1; ARFGAP1", "OMIM:608378": "NUCLEAR EXPORT MEDIATOR FACTOR; NEMF", "OMIM:608379": "CHEMOKINE, CC MOTIF, RECEPTOR-LIKE PROTEIN 2; CCRL2", "OMIM:608381": "CERAMIDE KINASE-LIKE; CERKL", "OMIM:608382": "DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 3; DNAJA3", "OMIM:608383": "DIHYDROPYRIMIDINASE-LIKE 5; DPYSL5", "OMIM:608384": "GASDERMIN C; GSDMC", "OMIM:608385": "TENSIN 4; TNS4", "OMIM:608386": "PARATHYROID HORMONE 2; PTH2", "OMIM:608387": "ZINC FINGER PROTEIN 213; ZNF213", "OMIM:608388": "ECSIT SIGNALING INTEGRATOR; ECSIT", "OMIM:608391": "AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2", "OMIM:608392": "AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3", "OMIM:608396": "SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 9; SLC9A9", "OMIM:608397": "CUB AND SUSHI MULTIPLE DOMAINS 1; CSMD1", "OMIM:608398": "CUB AND SUSHI MULTIPLE DOMAINS 2; CSMD2", "OMIM:608399": "CUB AND SUSHI MULTIPLE DOMAINS 3; CSMD3", "OMIM:608400": "USHERIN; USH2A", "OMIM:608401": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 4E; MS4A4E", "OMIM:608402": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 6E; MS4A6E", "OMIM:608403": "MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 10; MS4A10", "OMIM:608405": "1-AMINOCYCLOPROPANE-1-CARBOXYLATE SYNTHASE; ACCS", "OMIM:608406": "VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY", "OMIM:608407": "DIHYDROPYRIMIDINASE-LIKE 4; DPYSL4", "OMIM:608408": "DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 3; DPPA3", "OMIM:608409": "CHROMOSOME 15 OPEN READING FRAME 48; C15ORF48", "OMIM:608410": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7; BMIQ7", "OMIM:608411": "EXPORTIN 6; XPO6", "OMIM:608412": "GC-RICH PROMOTER-BINDING PROTEIN 1; GPBP1", "OMIM:608413": "UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 5; UBR5", "OMIM:608414": "PHOSPHOLIPASE C, EPSILON-1; PLCE1", "OMIM:608416": "MATRIX METALLOPROTEINASE 21; MMP21", "OMIM:608417": "MATRIX METALLOPROTEINASE 28; MMP28", "OMIM:608418": "SEPTIN 8; SEPT8", "OMIM:608419": "METHYLMALONYL-CoA EPIMERASE; MCEE", "OMIM:608420": "PANNEXIN 1; PANX1", "OMIM:608421": "PANNEXIN 2; PANX2", "OMIM:608422": "PANNEXIN 3; PANX3", "OMIM:608424": "MUCIN 17; MUC17", "OMIM:608425": "FRUCTOSAMINE 3-KINASE", "OMIM:608426": "MAKORIN 2; MKRN2", "OMIM:608427": "PARKIN COREGULATED GENE; PACRG", "OMIM:608428": "CYTOCHROME P450, SUBFAMILY XXVIC, POLYPEPTIDE 1; CYP26C1", "OMIM:608429": "CARBOHYDRATE SULFOTRANSFERASE 14; CHST14", "OMIM:608430": "TRPC4-ASSOCIATED PROTEIN; TRPC4AP", "OMIM:608431": "G3BP STRESS GRANULE ASSEMBLY FACTOR 1; G3BP1", "OMIM:608432": "CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM", "OMIM:608433": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 18; ZBTB18", "OMIM:608434": "GIT ArfGAP 1; GIT1", "OMIM:608435": "MUSCLE RAS VIRAL ONCOGENE HOMOLOG; MRAS", "OMIM:608436": "SULFOTRANSFERASE FAMILY 1B, MEMBER 1; SULT1B1", "OMIM:608437": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4; SLEB4", "OMIM:608438": "TOUSLED-LIKE KINASE 1; TLK1", "OMIM:608439": "TOUSLED-LIKE KINASE 2; TLK2", "OMIM:608440": "LACTAMASE, BETA; LACTB", "OMIM:608441": "SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 1; SYNE1", "OMIM:608442": "SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 2; SYNE2", "OMIM:608444": "LYSINE-SPECIFIC METHYLTRANSFERASE 2E; KMT2E", "OMIM:608445": "SPEECH-SOUND DISORDER", "OMIM:608446": "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "OMIM:608447": "CAROTID INTIMAL MEDIAL THICKNESS 2; IMT2", "OMIM:608448": "INFLAMMATORY BOWEL DISEASE 9; IBD9", "OMIM:608449": "POLYPYRIMIDINE TRACT-BINDING PROTEIN 2; PTBP2", "OMIM:608450": "B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA-EXPRESSED GENE; BLACE", "OMIM:608451": "ETHE1 PERSULFIDE DIOXYGENASE; ETHE1", "OMIM:608452": "PLATELET-DERIVED GROWTH FACTOR C; PDGFC", "OMIM:608453": "CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE C; CBLC", "OMIM:608455": "GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM", "OMIM:608457": "CHROMOBOX 7; CBX7", "OMIM:608458": "NEUROCHONDRIN; NCDN", "OMIM:608459": "CYCLIN-DEPENDENT KINASE-LIKE 3; CDKL3", "OMIM:608460": "ZINC FINGER PROTEIN 276; ZFP276", "OMIM:608461": "COLLAGEN, TYPE XXVII, ALPHA-1; COL27A1", "OMIM:608462": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8; HSCR8", "OMIM:608463": "APOPTOSIS-ANTAGONIZING TRANSCRIPTION FACTOR; AATF", "OMIM:608464": "ANGIOGENIC FACTOR WITH G-PATCH AND FHA DOMAINS 1; AGGF1", "OMIM:608465": "SENATAXIN; SETX", "OMIM:608466": "ACTIVATOR OF HEAT-SHOCK 90-KD PROTEIN ATPase 1; AHSA1", "OMIM:608467": "STONIN 2; STON2", "OMIM:608468": "NOCTURNIN; NOCT", "OMIM:608469": "DEAD-BOX HELICASE 17; DDX17", "OMIM:608472": "ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 2; ST6GAL2", "OMIM:608473": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 1; ANAPC1", "OMIM:608475": "3-HYDROXYISOBUTYRATE DEHYDROGENASE; HIBADH", "OMIM:608476": "TBK1-BINDING PROTEIN 1; TBKBP1", "OMIM:608477": "ALDO-KETO REDUCTASE FAMILY 7, MEMBER A3; AKR7A3", "OMIM:608478": "ALDO-KETO REDUCTASE FAMILY 7, MEMBER A4", "OMIM:608479": "SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 7; SLC26A7", "OMIM:608480": "SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 8; SLC26A8", "OMIM:608481": "SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 9; SLC26A9", "OMIM:608482": "MATRIX METALLOPROTEINASE 25; MMP25", "OMIM:608483": "AKT-INTERACTING PROTEIN; AKTIP", "OMIM:608484": "CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA", "OMIM:608485": "TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 2; TRAM2", "OMIM:608486": "MTTS I-BAR DOMAIN-CONTAINING PROTEIN 1; MTSS1", "OMIM:608487": "TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5", "OMIM:608488": "SPARC-RELATED MODULAR CALCIUM-BINDING PROTEIN 1; SMOC1", "OMIM:608489": "STROMAL ANTIGEN 3; STAG3", "OMIM:608490": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 1; SLC38A1", "OMIM:608491": "CYCLIN D-BINDING MYB-LIKE TRANSCRIPTION FACTOR 1; DMTF1", "OMIM:608492": "OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY F, MEMBER 1; OR5F1", "OMIM:608493": "OLFACTORY RECEPTOR, FAMILY 10, SUBFAMILY A, MEMBER 1; OR10A1", "OMIM:608494": "OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY D, MEMBER 2; OR2D2", "OMIM:608495": "OLFACTORY RECEPTOR, FAMILY 6, SUBFAMILY A, MEMBER 2; OR6A2", "OMIM:608496": "OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY I, MEMBER 1; OR5I1", "OMIM:608497": "OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY F, MEMBER 1; OR2F1", "OMIM:608498": "ZONA PELLUCIDA-BINDING PROTEIN; ZPBP", "OMIM:608499": "ZONA PELLUCIDA-BINDING PROTEIN 2; ZPBP2", "OMIM:608500": "PRICKLE PLANAR CELL POLARITY PROTEIN 1; PRICKLE1", "OMIM:608501": "PRICKLE, PLANAR CELL POLARITY PROTEIN 2; PRICKLE2", "OMIM:608502": "POLY(rC)-BINDING PROTEIN 3; PCBP3", "OMIM:608503": "POLY(rC)-BINDING PROTEIN 4; PCBP4", "OMIM:608504": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 15; ARHGEF15", "OMIM:608506": "MITOFUSIN 1; MFN1", "OMIM:608507": "MITOFUSIN 2; MFN2", "OMIM:608508": "CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA", "OMIM:608509": "ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA", "OMIM:608510": "SH2 DOMAIN-CONTAINING 1B; SH2D1B", "OMIM:608511": "PHYTANOYL-CoA HYDROXYLASE-INTERACTING PROTEIN; PHYHIP", "OMIM:608512": "NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1", "OMIM:608513": "RIBONUCLEASE P, RNA COMPONENT H1; RPPH1", "OMIM:608514": "ANDROGEN-INDUCED GENE 1; AIG1", "OMIM:608515": "NEUTROPHIL CYTOSOLIC FACTOR 2; NCF2", "OMIM:608516": "MAJOR DEPRESSIVE DISORDER; MDD", "OMIM:608517": "MYOPALLADIN; MYPN", "OMIM:608518": "OROFACIODIGITAL SYNDROME VII; OFD7", "OMIM:608519": "F-BOX ONLY PROTEIN 16; FBXO16", "OMIM:608520": "MAJOR DEPRESSIVE DISORDER 1", "OMIM:608521": "LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 5; LAMTOR5", "OMIM:608522": "HEPATITIS B VIRUS X-ASSOCIATED PROTEIN; HBXAP", "OMIM:608523": "DIO3, OPPOSITE STRAND; DIO3OS", "OMIM:608524": "INHIBITOR OF GROWTH 4; ING4", "OMIM:608525": "INHIBITOR OF GROWTH 5; ING5", "OMIM:608526": "PERIODONTITIS, AGGRESSIVE, 2", "OMIM:608527": "NEURAMINIDASE 4; NEU4", "OMIM:608528": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS U PROTEIN; PIGU", "OMIM:608529": "FIBRILLIN 3; FBN3", "OMIM:608530": "BTB/POZ DOMAIN-CONTAINING PROTEIN 1; BTBD1", "OMIM:608531": "BTB/POZ DOMAIN-CONTAINING PROTEIN 2; BTBD2", "OMIM:608532": "NON-SMC CONDENSIN II COMPLEX SUBUNIT G2; NCAPG2", "OMIM:608533": "F-BOX ONLY PROTEIN 38; FBXO38", "OMIM:608534": "ACTIN-RELATED PROTEIN M1", "OMIM:608535": "ACTIN-RELATED PROTEIN T2; ACTRT2", "OMIM:608536": "GTP-BINDING PROTEIN 3; GTPBP3", "OMIM:608537": "VON HIPPEL-LINDAU TUMOR SUPPRESSOR; VHL", "OMIM:608538": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5B; ARID5B", "OMIM:608539": "GLIS FAMILY ZINC FINGER PROTEIN 2; GLIS2", "OMIM:608541": "RHO GTPase-ACTIVATING PROTEIN 32; ARHGAP32", "OMIM:608543": "SCHIZOPHRENIA 12", "OMIM:608544": "HISTONE DEACETYLASE 10; HDAC10", "OMIM:608546": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 3; EIF4A3", "OMIM:608547": "VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1", "OMIM:608548": "HEMICENTIN; HMCN1", "OMIM:608549": "VPS11 CORE SUBUNIT OF CORVET AND HOPS COMPLEXES; VPS11", "OMIM:608550": "VPS16 CORE SUBUNIT OF CORVET AND HOPS COMPLEXES; VPS16", "OMIM:608551": "VPS18 CORE SUBUNIT OF CORVET AND HOPS COMPLEXES; VPS18", "OMIM:608552": "VPS33B LATE ENDOSOME AND LYSOSOME ASSOCIATED; VPS33B", "OMIM:608554": "NEURONAL PAS DOMAIN PROTEIN 4; NPAS4", "OMIM:608555": "METAXIN 2; MTX2", "OMIM:608556": "LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO", "OMIM:608557": "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2", "OMIM:608558": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 5; BMIQ5", "OMIM:608559": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 6; BMIQ6", "OMIM:608560": "STABILIN 1; STAB1", "OMIM:608561": "STABILIN 2; STAB2", "OMIM:608562": "POLYDACTYLY, POSTAXIAL, TYPE A4", "OMIM:608564": "GIT ArfGAP 2; GIT2", "OMIM:608566": "MUCIN 15, TRANSMEMBRANE; MUC15", "OMIM:608568": "MYOSIN, HEAVY CHAIN 14, NONMUSCLE; MYH14", "OMIM:608570": "AHNAK NUCLEOPROTEIN 2; AHNAK2", "OMIM:608571": "ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY", "OMIM:608574": "EMSY TRANSCRIPTIONAL REPRESSOR, BRCA2 INTERACTING; EMSY", "OMIM:608575": "RETINOL DEHYDROGENASE 8; RDH8", "OMIM:608576": "GRAINYHEAD-LIKE 2; GRHL2", "OMIM:608577": "CHURCHILL DOMAIN-CONTAINING 1; CHURC1", "OMIM:608579": "SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO", "OMIM:608580": "MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16", "OMIM:608581": "RP1-LIKE PROTEIN 1; RP1L1", "OMIM:608582": "EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7", "OMIM:608584": "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2", "OMIM:608585": "BRACHIAL PALSY, FAMILIAL CONGENITAL", "OMIM:608586": "KERATOCONUS 3; KTCN3", "OMIM:608587": "GH3 DOMAIN-CONTAINING PROTEIN; GHDC", "OMIM:608588": "DExH-BOX HELICASE 58; DHX58", "OMIM:608589": "SLAM FAMILY, MEMBER 9; SLAMF9", "OMIM:608592": "CTD SMALL PHOSPHATASE-LIKE; CTDSPL", "OMIM:608593": "COMPLEMENT FACTOR H-RELATED 5; CFHR5", "OMIM:608595": "NEUROPEPTIDE S RECEPTOR 1; NPSR1", "OMIM:608596": "NPSR1 ANTISENSE RNA 1; NPSRAS1", "OMIM:608597": "NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 2; NEURL2", "OMIM:608598": "CANCER SUSCEPTIBILITY CANDIDATE 2; CASC2", "OMIM:608599": "RAB11 FAMILY-INTERACTING PROTEIN 2; RAB11FIP2", "OMIM:608601": "FIBROSIN 1; FBS1", "OMIM:608602": "NUCLEAR BODY PROTEIN SP140; SP140", "OMIM:608603": "GLIOMEDIN; GLDN", "OMIM:608604": "RETINOL-BINDING PROTEIN 7; RBP7", "OMIM:608605": "OLIGOSACCHARYLTRANSFERASE COMPLEX, CATALYTIC SUBUNIT STT3B; STT3B", "OMIM:608606": "BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A15; BHLHA15", "OMIM:608607": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 12; NBPF12", "OMIM:608608": "PEPTIDYL-PROLYL ISOMERASE A-LIKE PROTEIN 4E; PPIAL4E", "OMIM:608609": "CHROMOSOME 1 OPEN READING FRAME 152; C1ORF152", "OMIM:608610": "PROGRAMMED CELL DEATH 4; PDCD4", "OMIM:608613": "TRANSCRIPTION FACTOR Sp6; SP6", "OMIM:608614": "CYTOCHROME P450, FAMILY 4, SUBFAMILY V, POLYPEPTIDE 2; CYP4V2", "OMIM:608616": "OBSCURIN; OBSCN", "OMIM:608617": "FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER B; FAM3B", "OMIM:608618": "FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER C; FAM3C", "OMIM:608619": "FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER D; FAM3D", "OMIM:608621": "SPERM AUTOANTIGENIC PROTEIN 17; SPA17", "OMIM:608622": "HYPERTENSION, DIASTOLIC, RESISTANCE TO", "OMIM:608625": "PEPTIDYL-tRNA HYDROLASE 2; PTRH2", "OMIM:608626": "STE20-RELATED KINASE ADAPTOR ALPHA; STRADA", "OMIM:608628": "TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1; TBL1XR1", "OMIM:608630": "ROUNDABOUT GUIDANCE RECEPTOR 3; ROBO3", "OMIM:608632": "MICRO RNA 196A1; MIR196A1", "OMIM:608633": "CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12", "OMIM:608635": "ARFGAP WITH DUAL PLECKSTRIN HOMOLOGY DOMAINS 2; ADAP2", "OMIM:608639": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 8; PLEKHA8", "OMIM:608640": "ZINC FINGER PROTEIN 461; ZNF461", "OMIM:608642": "ZINC-BINDING ALCOHOL DEHYDROGENASE DOMAIN-CONTAINING PROTEIN 1; ZADH1", "OMIM:608646": "CILIARY DYSKINESIA, PRIMARY, 4; CILD4", "OMIM:608648": "SEC63 HOMOLOG, PROTEIN TRANSLOCATION REGULATOR; SEC63", "OMIM:608650": "UNC51-LIKE AUTOPHAGY-ACTIVATING KINASE 2; ULK2", "OMIM:608651": "ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 1; AGAP1", "OMIM:608655": "GAP JUNCTION PROTEIN, GAMMA-1; GJC1", "OMIM:608656": "PROSTATE CANCER, HEREDITARY, 3", "OMIM:608657": "JUN DIMERIZATION PROTEIN 2; JDP2", "OMIM:608658": "PROSTATE CANCER, HEREDITARY, 4", "OMIM:608659": "SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 8; SENP8", "OMIM:608660": "INSULIN-INDUCED GENE 2; INSIG2", "OMIM:608661": "PODOCAN; PODN", "OMIM:608662": "ANOCTAMIN 5; ANO5", "OMIM:608663": "ANOCTAMIN 6; ANO6", "OMIM:608665": "PSMC3-INTERACTING PROTEIN; PSMC3IP", "OMIM:608666": "PEROXISOME BIOGENESIS FACTOR 26; PEX26", "OMIM:608667": "NIPPED-B-LIKE; NIPBL", "OMIM:608668": "ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11; ZMYND11", "OMIM:608669": "BASONUCLIN 2; BNC2", "OMIM:608670": "ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY", "OMIM:608671": "DAZ-INTERACTING ZINC FINGER PROTEIN 1; DZIP1", "OMIM:608672": "DAZ-INTERACTING ZINC FINGER PROTEIN 3; DZIP3", "OMIM:608674": "SH3 DOMAIN PROTEIN 19; SH3D19", "OMIM:608675": "FUCOSE KINASE; FCSK", "OMIM:608676": "TAXILIN, ALPHA; TXLNA", "OMIM:608677": "MINDBOMB E3 UBIQUITIN PROTEIN LIGASE 1; MIB1", "OMIM:608678": "INTERLEUKIN 33; IL33", "OMIM:608679": "TP53-REGULATING KINASE; TP53RK", "OMIM:608680": "TP53RK-BINDING PROTEIN; TPRKB", "OMIM:608682": "ADRENOMEDULLIN 2; ADM2", "OMIM:608683": "CYSTATIN 8; CST8", "OMIM:608684": "NINEIN; NIN", "OMIM:608685": "STRUCTURAL MAINTENANCE OF CHROMOSOMES 1B; SMC1B", "OMIM:608686": "RAB3A-INTERACTING PROTEIN; RAB3IP", "OMIM:608689": "MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 1; MESP1", "OMIM:608690": "SSX2-INTERACTING PROTEIN; SSX2IP", "OMIM:608691": "MAJOR DEPRESSIVE DISORDER 2", "OMIM:608692": "BASIC LEUCINE ZIPPER NUCLEAR FACTOR 1; BLZF1", "OMIM:608693": "GOLGI REASSEMBLY STACKING PROTEIN 2; GORASP2", "OMIM:608694": "ZINC FINGER PROTEIN 622; ZNF622", "OMIM:608695": "GLAUCOMA 1, OPEN ANGLE, J; GLC1J", "OMIM:608696": "GLAUCOMA 1, OPEN ANGLE, K; GLC1K", "OMIM:608697": "FOLLICULOGENESIS-SPECIFIC bHLH TRANSCRIPTION FACTOR; FIGLA", "OMIM:608698": "DISCOIDIN, CUB, AND LCCL DOMAIN-CONTAINING PROTEIN 2; DCBLD2", "OMIM:608699": "BONE MORPHOGENETIC PROTEIN-BINDING ENDOTHELIAL REGULATOR PROTEIN; BMPER", "OMIM:608700": "NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1", "OMIM:608701": "NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 2; NMNAT2", "OMIM:608702": "NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 3; NMNAT3", "OMIM:608704": "NICOTINAMIDE RIBOSIDE KINASE 1; NMRK1", "OMIM:608705": "INTEGRIN, BETA-1, BINDING PROTEIN OF, 3; ITGB1BP3", "OMIM:608706": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 4; DNAAF4", "OMIM:608707": "CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON", "OMIM:608708": "BROTHER OF CDON; BOC", "OMIM:608711": "CTD SMALL PHOSPHATASE 2; CTDSP2", "OMIM:608712": "PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, T; PTPRT", "OMIM:608713": "CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1", "OMIM:608714": "SYNTROPHIN, GAMMA-1; SNTG1", "OMIM:608715": "SYNTROPHIN, GAMMA-2; SNTG2", "OMIM:608717": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 13; LGALS13", "OMIM:608718": "KERATIN-ASSOCIATED PROTEIN 13-1; KRTAP13-1", "OMIM:608719": "TR4-ASSOCIATED PROTEIN, 16-KD", "OMIM:608720": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA", "OMIM:608721": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 2; CAMK2N2", "OMIM:608722": "CAPPING PROTEIN, ALPHA-3; CAPZA3", "OMIM:608723": "PHOSPHATASE AND ACTIN REGULATOR 1; PHACTR1", "OMIM:608724": "PHOSPHATASE AND ACTIN REGULATOR 2; PHACTR2", "OMIM:608725": "PHOSPHATASE AND ACTIN REGULATOR 3; PHACTR3", "OMIM:608726": "PHOSPHATASE AND ACTIN REGULATOR 4; PHACTR4", "OMIM:608727": "DET1 PARTNER OF COP1 E3 UBIQUITIN LIGASE; DET1", "OMIM:608729": "ANGIOTENSIN II RECEPTOR-ASSOCIATED PROTEIN; AGTRAP", "OMIM:608730": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 5; SLC39A5", "OMIM:608731": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6", "OMIM:608732": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 8; SLC39A8", "OMIM:608733": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 10; SLC39A10", "OMIM:608734": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 12; SLC39A12", "OMIM:608735": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 13; SLC39A13", "OMIM:608736": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14", "OMIM:608737": "RAB11 FAMILY-INTERACTING PROTEIN 1; RAB11FIP1", "OMIM:608738": "RAB11 FAMILY-INTERACTING PROTEIN 3; RAB11FIP3", "OMIM:608739": "EXORIBONUCLEASE 1; ERI1", "OMIM:608740": "NFAT ACTIVATING PROTEIN WITH ITAM MOTIF 1; NFAM1", "OMIM:608741": "SYNAPTOTAGMIN 11; SYT11", "OMIM:608742": "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4", "OMIM:608743": "JUNCTIONAL SARCOPLASMIC RETICULUM PROTEIN 1; JSRP1", "OMIM:608744": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 24; SLC25A24", "OMIM:608745": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 25; SLC25A25", "OMIM:608746": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 23; SLC25A23", "OMIM:608748": "BONE MORPHOGENETIC PROTEIN 10; BMP10", "OMIM:608749": "BROMODOMAIN-CONTAINING PROTEIN 4; BRD4", "OMIM:608750": "ALG3 ALPHA-1,3-MANNOSYLTRANSFERASE; ALG3", "OMIM:608752": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 5; C1QTNF5", "OMIM:608753": "tRNA SPLICING ENDONUCLEASE, SUBUNIT 2; TSEN2", "OMIM:608754": "tRNA SPLICING ENDONUCLEASE, SUBUNIT 34; TSEN34", "OMIM:608755": "tRNA SPLICING ENDONUCLEASE, SUBUNIT 54; TSEN54", "OMIM:608756": "tRNA SPLICING ENDONUCLEASE, SUBUNIT 15; TSEN15", "OMIM:608757": "CLEAVAGE FACTOR POLYNUCLEOTIDE KINASE SUBUNIT 1; CLP1", "OMIM:608759": "CYTOGLOBIN; CYGB", "OMIM:608760": "AUTOPHAGY-RELATED 7; ATG7", "OMIM:608761": "SOLUTE CARRIER FAMILY 5 (CHOLINE TRANSPORTER), MEMBER 7; SLC5A7", "OMIM:608763": "EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE", "OMIM:608764": "NICOTINAMIDE PHOSPHORIBOSYLTRANSFERASE; NAMPT", "OMIM:608765": "SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3; IS3", "OMIM:608766": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1B; LRP1B", "OMIM:608767": "FEM1 HOMOLOG C; FEM1C", "OMIM:608769": "PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX", "OMIM:608770": "DIHYDROLIPOAMIDE S-ACETYLTRANSFERASE; DLAT", "OMIM:608771": "MEDIATOR COMPLEX SUBUNIT 13-LIKE; MED13L", "OMIM:608772": "INVASION INHIBITORY PROTEIN, 45-KD", "OMIM:608773": "TUBULIN POLYMERIZATION-PROMOTING PROTEIN; TPPP", "OMIM:608774": "ANKYRIN REPEAT- AND KINASE DOMAIN-CONTAINING PROTEIN 1; ANKK1", "OMIM:608775": "HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 1; HAUS1", "OMIM:608777": "PERIOSTIN; POSTN", "OMIM:608778": "KELCH-LIKE 10; KLHL10", "OMIM:608780": "GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5", "OMIM:608781": "ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3; ASPG3", "OMIM:608783": "SET AND MYND DOMAIN-CONTAINING PROTEIN 3; SMYD3", "OMIM:608784": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8", "OMIM:608785": "HTRA SERINE PEPTIDASE 3; HTRA3", "OMIM:608786": "PYRUVATE CARBOXYLASE; PC", "OMIM:608787": "OTOSCLEROSIS 5; OTSC5", "OMIM:608788": "SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7", "OMIM:608789": "NCK-ASSOCIATED PROTEIN 5; NCKAP5", "OMIM:608790": "TRANSCRIPTIONAL ADAPTOR 2B; TADA2B", "OMIM:608791": "NUCLEOREDOXIN-LIKE PROTEIN 1; NXNL1", "OMIM:608792": "GIPC PDZ DOMAIN-CONTAINING FAMILY, MEMBER 3; GIPC3", "OMIM:608793": "SPERM ANTIGEN WITH CALPONIN HOMOLOGY AND COILED-COIL DOMAINS 1; SPECC1", "OMIM:608794": "PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 1; PITPNM1", "OMIM:608795": "PHOSPHOLIPASE C, DELTA-3; PLCD3", "OMIM:608796": "MOYAMOYA DISEASE 3; MYMY3", "OMIM:608797": "MEIOTIC DOUBLE-STRANDED BREAK FORMATION PROTEIN 1; MEI1", "OMIM:608798": "GASDERMIN E; GSDME", "OMIM:608801": "GLUTARYL-CoA DEHYDROGENASE; GCDH", "OMIM:608802": "L3MBTL HISTONE METHYL-LYSINE-BINDING PROTEIN 1; L3MBTL1", "OMIM:608803": "GAP JUNCTION PROTEIN, GAMMA-2; GJC2", "OMIM:608806": "N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 2; NAALADL2", "OMIM:608809": "LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA; LACH", "OMIM:608811": "METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH", "OMIM:608812": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1", "OMIM:608813": "DER1-LIKE DOMAIN FAMILY, MEMBER 1; DERL1", "OMIM:608814": "LATERAL SEMICIRCULAR CANAL MALFORMATION, FAMILIAL, WITH EXTERNAL AND MIDDLE EAR ABNORMALITIES", "OMIM:608815": "EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 1; EFHC1", "OMIM:608816": "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3; EJM3", "OMIM:608817": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 4C; LRRC4C", "OMIM:608818": "NETRIN G1; NTNG1", "OMIM:608819": "KERATIN-ASSOCIATED PROTEIN 1-1; KRTAP1-1", "OMIM:608820": "KERATIN-ASSOCIATED PROTEIN 1-3; KRTAP1-3", "OMIM:608821": "KERATIN-ASSOCIATED PROTEIN 1-4; KRTAP1-4", "OMIM:608822": "KERATIN-ASSOCIATED PROTEIN 1-5; KRTAP1-5", "OMIM:608823": "CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 1; CGB1", "OMIM:608824": "CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 2; CGB2", "OMIM:608825": "CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 5; CGB5", "OMIM:608826": "CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 7; CGB7", "OMIM:608827": "CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 8; CGB8", "OMIM:608828": "DROSHA RIBONUCLEASE III; DROSHA", "OMIM:608829": "SMALL UBIQUITIN-LIKE MODIFIER 4; SUMO4", "OMIM:608830": "RETINOL DEHYDROGENASE 12; RDH12", "OMIM:608831": "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2; RLS2", "OMIM:608832": "GREMLIN 2, DAN FAMILY BMP ANTAGONIST; GREM2", "OMIM:608833": "REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1", "OMIM:608834": "cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 2; CREB3L2", "OMIM:608835": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 13; ABCC13", "OMIM:608838": "VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1-LIKE 1; VKORC1L1", "OMIM:608839": "CALPAIN 12; CAPN12", "OMIM:608841": "COMPLEMENT COMPONENT 3- AND PREGNANCY ZONE PROTEIN-LIKE ALPHA-2-MACROGLOBULIN DOMAIN-CONTAINING PROTEIN 8; CPAMD8", "OMIM:608842": "COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 1; CHCHD1", "OMIM:608843": "VASORIN", "OMIM:608844": "NEI-LIKE DNA GLYCOSYLASE 1; NEIL1", "OMIM:608845": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 6; ARL6", "OMIM:608846": "CARNITINE PALMITOYLTRANSFERASE IC; CPT1C", "OMIM:608847": "FERRITIN, MITOCHONDRIAL; FTMT", "OMIM:608848": "FORMIN-BINDING PROTEIN 1-LIKE; FNBP1L", "OMIM:608849": "U2AF HOMOLOGY MOTIF KINASE 1; UHMK1", "OMIM:608851": "5-PRIME,3-PRIME-EXORIBONUCLEASE 2; XRN2", "OMIM:608852": "PULMONARY FUNCTION", "OMIM:608853": "BH3-LIKE MOTIF-CONTAINING CELL DEATH INDUCER; BLID", "OMIM:608854": "OXIDORED-NITRO DOMAIN-CONTAINING PROTEIN 1", "OMIM:608855": "TWEETY FAMILY MEMBER 2; TTYH2", "OMIM:608856": "CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 1; CTAGE1", "OMIM:608857": "CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 3; CTAGE3", "OMIM:608858": "FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER 2; FGFR1OP2", "OMIM:608859": "CD109 ANTIGEN; CD109", "OMIM:608860": "ASTACIN-LIKE METALLOENDOPEPTIDASE; ASTL", "OMIM:608861": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 50/57-KD, V1 SUBUNIT H; ATP6V1H", "OMIM:608862": "NAD(P)HX EPIMERASE; NAXE", "OMIM:608863": "PODOPLANIN; PDPN", "OMIM:608865": "URB1 RIBOSOME BIOGENESIS 1, S. CEREVISIAE, HOMOLOG OF; URB1", "OMIM:608866": "FRA10A-ASSOCIATED CGG REPEAT 1; FRA10AC1", "OMIM:608867": "DUAL-SPECIFICITY PHOSPHATASE 10; DUSP10", "OMIM:608868": "LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 1; LRIG1", "OMIM:608869": "LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 2; LRIG2", "OMIM:608870": "LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 3; LRIG3", "OMIM:608871": "NIPSNAP HOMOLOG 3A; NIPSNAP3A", "OMIM:608872": "NIPSNAP HOMOLOG 3B; NIPSNAP3B", "OMIM:608873": "SEMAPHORIN 6B; SEMA6B", "OMIM:608875": "GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14", "OMIM:608876": "PCF11 CLEAVAGE AND POLYADENYLATION FACTOR SUBUNIT; PCF11", "OMIM:608877": "VACUOLAR PROTEIN SORTING 13 HOMOLOG D; VPS13D", "OMIM:608878": "GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20", "OMIM:608879": "VACUOLAR PROTEIN SORTING 13 HOMOLOG C; VPS13C", "OMIM:608880": "ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 16; ZFYVE16", "OMIM:608881": "MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 2; MICAL2", "OMIM:608882": "MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 3; MICAL3", "OMIM:608884": "RAL GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT ALPHA-1; RALGAPA1", "OMIM:608886": "PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA; PPARGC1B", "OMIM:608887": "PURINE-RICH ELEMENT-BINDING PROTEIN B; PURB", "OMIM:608888": "RNA-BINDING MOTIF PROTEIN 45; RBM45", "OMIM:608889": "AMINOCARBOXYMUCONATE SEMIALDEHYDE DECARBOXYLASE; ACMSD", "OMIM:608891": "ODD-SKIPPED-RELATED TRANSCRIPTION FACTOR 1; OSR1", "OMIM:608892": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7", "OMIM:608893": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19; SLC6A19", "OMIM:608894": "ABELSON HELPER INTEGRATION SITE 1; AHI1", "OMIM:608896": "SARCOGLYCAN, GAMMA; SGCG", "OMIM:608897": "UNC13 HOMOLOG D; UNC13D", "OMIM:608899": "GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 2, ALPHA", "OMIM:608900": "GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 2, BETA", "OMIM:608901": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5", "OMIM:608903": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1", "OMIM:608904": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2", "OMIM:608905": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3", "OMIM:608906": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4", "OMIM:608909": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 5B; ARL5B", "OMIM:608910": "CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 4; CTAGE4", "OMIM:608911": "CHOANAL ATRESIA, POSTERIOR; PCA", "OMIM:608912": "POTE ANKYRIN DOMAIN FAMILY, MEMBER B; POTEB", "OMIM:608913": "POTE ANKYRIN DOMAIN FAMILY, MEMBER H; POTEH", "OMIM:608914": "POTE ANKYRIN DOMAIN FAMILY, MEMBER E; POTEE", "OMIM:608915": "POTE ANKYRIN DOMAIN FAMILY, MEMBER A; POTEA", "OMIM:608916": "POTE ANKYRIN DOMAIN FAMILY, MEMBER G; POTEG", "OMIM:608917": "ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 1; ATPAF1", "OMIM:608918": "ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 2; ATPAF2", "OMIM:608919": "TWEETY FAMILY MEMBER 3; TTYH3", "OMIM:608920": "PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 2; PITPNM2", "OMIM:608921": "PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PITPNM3", "OMIM:608922": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 13B; ARL13B", "OMIM:608923": "TRACE AMINE-ASSOCIATED RECEPTOR 6; TAAR6", "OMIM:608924": "FORKHEAD BOX P4; FOXP4", "OMIM:608925": "MULTIMERIN 2; MMRN2", "OMIM:608926": "EMI DOMAIN-CONTAINING PROTEIN 1; EMID1", "OMIM:608927": "EMI DOMAIN-CONTAINING PROTEIN 2; EMID2", "OMIM:608928": "ELASTIN MICROFIBRIL INTERFACER 2; EMILIN2", "OMIM:608929": "ELASTIN MICROFIBRIL INTERFACER 3; EMILIN3", "OMIM:608932": "KERATOCONUS 2; KTCN2", "OMIM:608933": "ENDONUCLEASE VIII-LIKE 2; NEIL2", "OMIM:608934": "ENDONUCLEASE VIII-LIKE 3; NEIL3", "OMIM:608935": "LUNG CANCER SUSCEPTIBILITY 1; LNCR1", "OMIM:608936": "OPIORPHIN PREPROPEPTIDE; OPRPN", "OMIM:608937": "SH2B ADAPTOR PROTEIN 1; SH2B1", "OMIM:608938": "RIBOSOMAL PROTEIN S6 KINASE B1; RPS6KB1", "OMIM:608939": "RIBOSOMAL PROTEIN S6 KINASE B2; RPS6KB2", "OMIM:608941": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-3; GNG3", "OMIM:608942": "DYNEIN, LIGHT CHAIN, LC8 TYPE, 2; DYNLL2", "OMIM:608943": "CYTOKINE-INDUCED APOPTOSIS INHIBITOR 1; CIAPIN1", "OMIM:608944": "FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; FREM1", "OMIM:608945": "FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2", "OMIM:608946": "FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 3; FREM3", "OMIM:608947": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13; KCTD13", "OMIM:608948": "ZIC FAMILY, MEMBER 4; ZIC4", "OMIM:608949": "GLYCOLIPID TRANSFER PROTEIN; GLTP", "OMIM:608950": "MAGI2 INTRONIC TRANSCRIPT; MAGI2IT", "OMIM:608951": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 6; CNOT6", "OMIM:608952": "REPLICATION TIMING REGULATORY FACTOR 1; RIF1", "OMIM:608953": "TEKTIN 2; TEKT2", "OMIM:608954": "MON1 HOMOLOG B, SECRETORY TRAFFICKING-ASSOCIATED; MON1B", "OMIM:608955": "TUBULIN TYROSINE LIGASE-LIKE 1; TTLL1", "OMIM:608956": "SOLUTE CARRIER FAMILY 46, MEMBER 2; SLC46A2", "OMIM:608958": "ADENOSINE DEAMINASE; ADA", "OMIM:608959": "DIPHTHAMIDE BIOSYNTHESIS PROTEIN 3; DPH3", "OMIM:608960": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 5A; ARL5A", "OMIM:608961": "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 3; TRPM3", "OMIM:608962": "RHOMBOID-LIKE 2; RHBDL2", "OMIM:608963": "NUT MIDLINE CARCINOMA FAMILY MEMBER 1; NUTM1", "OMIM:608964": "TATA BOX-BINDING PROTEIN-LIKE PROTEIN 2; TBPL2", "OMIM:608965": "CALCIUM-BINDING PROTEIN 4; CABP4", "OMIM:608966": "DAPPER, ANTAGONIST OF BETA-CATENIN, 2; DACT2", "OMIM:608968": "MAF bZIP TRANSCRIPTION FACTOR B; MAFB", "OMIM:608969": "UTP14C SMALL SUBUNIT PROCESSOME COMPONENT; UTP14C", "OMIM:608972": "CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2", "OMIM:608973": "SALT-INDUCIBLE KINASE 2; SIK2", "OMIM:608974": "COMPLEMENT COMPONENT C1r-LIKE PROTEIN; C1RL", "OMIM:608975": "PAR6 FAMILY CELL POLARITY REGULATOR BETA; PARD6B", "OMIM:608976": "PAR6 FAMILY CELL POLARITY REGULATOR GAMMA; PARD6G", "OMIM:608977": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 19; DNAJC19", "OMIM:608979": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1M; PPM1M", "OMIM:608981": "ACTIVIN A RECEPTOR, TYPE IC; ACVR1C", "OMIM:608982": "STATURE QUANTITATIVE TRAIT LOCUS 5; STQTL5", "OMIM:608985": "RING FINGER PROTEIN 2; RNF2", "OMIM:608986": "CREB-REGULATED TRANSCRIPTION COACTIVATOR 3; CRTC3", "OMIM:608987": "PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 3; P4HA3", "OMIM:608988": "ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2", "OMIM:608989": "RETINAL DEHYDROGENASE, EPIDERMAL, 2", "OMIM:608990": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10; ADAMTS10", "OMIM:608991": "MASTERMIND-LIKE 3; MAML3", "OMIM:608992": "BCL6B TRANSCRIPTION REPRESSOR; BCL6B", "OMIM:608993": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3F; APOBEC3F", "OMIM:608994": "ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 1A; ANKS1A", "OMIM:608998": "EARP COMPLEX AND GARP COMPLEX INTERACTING PROTEIN 1; EIPR1", "OMIM:608999": "TUMOR-SUPPRESSING SUBTRANSFERABLE FRAGMENT CANDIDATE GENE 2; TSSC2", "OMIM:609000": "MONOOXYGENASE, DBH-LIKE, 1; MOXD1", "OMIM:609001": "PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, GAMMA; PIK3C2G", "OMIM:609002": "TEKTIN 1; TEKT1", "OMIM:609003": "FISSION, MITOCHONDRIAL 1; FIS1", "OMIM:609004": "B-CELL CLL/LYMPHOMA 9-LIKE; BCL9L", "OMIM:609005": "WD REPEAT-CONTAINING PROTEIN 17; WDR17", "OMIM:609007": "LEUCINE-RICH REPEAT KINASE 2; LRRK2", "OMIM:609009": "TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, THETA ISOFORM; YWHAQ", "OMIM:609010": "3-METHYLCROTONYL-CoA CARBOXYLASE 1; MCCC1", "OMIM:609011": "VASOHIBIN 1; VASH1", "OMIM:609012": "WD REPEAT-CONTAINING PROTEIN 5; WDR5", "OMIM:609013": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 4C1; SLCO4C1", "OMIM:609014": "3-METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2", "OMIM:609017": "ERYTHROBLAST MEMBRANE-ASSOCIATED PROTEIN; ERMAP", "OMIM:609018": "HOLOCARBOXYLASE SYNTHETASE; HLCS", "OMIM:609019": "BIOTINIDASE; BTD", "OMIM:609020": "FOLATE HYDROLASE 1B; FOLH1B", "OMIM:609022": "RAPAMYCIN-INSENSITIVE COMPANION OF MTOR; RICTOR", "OMIM:609023": "PNKD METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN; PNKD", "OMIM:609024": "KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 2; KDELR2", "OMIM:609025": "KERATIN 75, TYPE II; KRT75", "OMIM:609026": "CATARACT 28; CTRCT28", "OMIM:609027": "BLOOD GROUP, INDIAN SYSTEM; IN", "OMIM:609028": "TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN; TIFA", "OMIM:609030": "DGCR8 MICROPROCESSOR COMPLEX SUBUNIT; DGCR8", "OMIM:609031": "EPIDIDYMAL PROTEASE INHIBITOR; EPPIN", "OMIM:609032": "FSHD REGION GENE 2; FRG2", "OMIM:609034": "HES-RELATED bHLH TRANSCRIPTION FACTOR WITH YRPW MOTIF-LIKE PROTEIN; HEYL", "OMIM:609035": "RAS ASSOCIATION AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; RAPH1", "OMIM:609036": "APBB1-INTERACTING PROTEIN; APBB1IP", "OMIM:609038": "RHO FAMILY GTPase 1; RND1", "OMIM:609042": "OPSIN 5; OPN5", "OMIM:609043": "RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 4; RXFP4", "OMIM:609044": "FREE FATTY ACID RECEPTOR 4; FFAR4", "OMIM:609045": "G PROTEIN-COUPLED RECEPTOR 141; GPR141", "OMIM:609046": "G PROTEIN-COUPLED RECEPTOR 142; GPR142", "OMIM:609047": "SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA", "OMIM:609050": "METASTASIS-ASSOCIATED GENE 3; MTA3", "OMIM:609051": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8", "OMIM:609058": "METHYLMALONYL-CoA MUTASE; MMUT", "OMIM:609059": "PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2", "OMIM:609061": "ENAH ACTIN REGULATOR; ENAH", "OMIM:609062": "POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 2; POU6F2", "OMIM:609063": "THIOREDOXIN 2; TXN2", "OMIM:609064": "CARNOSINE DIPEPTIDASE 1; CNDP1", "OMIM:609066": "AJUBA LIM PROTEIN; AJUBA", "OMIM:609067": "SCLERAXIS bHLH TRANSCRIPTION FACTOR; SCX", "OMIM:609068": "DAN DOMAIN FAMILY, MEMBER 5; DAND5", "OMIM:609070": "HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH", "OMIM:609071": "F-BOX AND WD40 DOMAIN PROTEIN 2; FBXW2", "OMIM:609072": "F-BOX AND WD40 DOMAIN PROTEIN 5; FBXW5", "OMIM:609073": "F-BOX AND WD40 DOMAIN PROTEIN 8; FBXW8", "OMIM:609074": "F-BOX AND WD40 DOMAIN PROTEIN 9; FBXW9", "OMIM:609075": "F-BOX AND WD40 DOMAIN PROTEIN 12; FBXW12", "OMIM:609076": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 6; FBXL6", "OMIM:609077": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 8; FBXL8", "OMIM:609078": "LYSINE DEMETHYLASE 2B; KDM2B", "OMIM:609079": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 12; FBXL12", "OMIM:609080": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 13; FBXL13", "OMIM:609081": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 14; FBXL14", "OMIM:609082": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 16; FBXL16", "OMIM:609083": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 17; FBXL17", "OMIM:609084": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 18; FBXL18", "OMIM:609085": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 19; FBXL19", "OMIM:609086": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 20; FBXL20", "OMIM:609087": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 21; FBXL21", "OMIM:609088": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 22; FBXL22", "OMIM:609089": "F-BOX ONLY PROTEIN 3; FBXO3", "OMIM:609090": "F-BOX ONLY PROTEIN 4; FBXO4", "OMIM:609091": "F-BOX ONLY PROTEIN 9; FBXO9", "OMIM:609092": "F-BOX ONLY PROTEIN 10; FBXO10", "OMIM:609093": "F-BOX ONLY PROTEIN 15; FBXO15", "OMIM:609094": "F-BOX ONLY PROTEIN 17; FBXO17", "OMIM:609095": "F-BOX ONLY PROTEIN 21; FBXO21", "OMIM:609096": "F-BOX ONLY PROTEIN 22; FBXO22", "OMIM:609097": "F-BOX ONLY PROTEIN 24; FBXO24", "OMIM:609098": "F-BOX ONLY PROTEIN 25; FBXO25", "OMIM:609099": "F-BOX ONLY PROTEIN 27; FBXO27", "OMIM:609100": "F-BOX ONLY PROTEIN 28; FBXO28", "OMIM:609101": "F-BOX ONLY PROTEIN 30; FBXO30", "OMIM:609102": "F-BOX ONLY PROTEIN 31; FBXO31", "OMIM:609103": "F-BOX ONLY PROTEIN 33; FBXO33", "OMIM:609104": "F-BOX ONLY PROTEIN 34; FBXO34", "OMIM:609105": "F-BOX ONLY PROTEIN 36; FBXO36", "OMIM:609106": "F-BOX ONLY PROTEIN 39; FBXO39", "OMIM:609107": "F-BOX ONLY PROTEIN 40; FBXO40", "OMIM:609108": "F-BOX ONLY PROTEIN 41; FBXO41", "OMIM:609109": "F-BOX ONLY PROTEIN 42; FBXO42", "OMIM:609110": "F-BOX ONLY PROTEIN 43; FBXO43", "OMIM:609111": "F-BOX ONLY PROTEIN 44; FBXO44", "OMIM:609112": "F-BOX ONLY PROTEIN 45; FBXO45", "OMIM:609113": "TELOMERE LENGTH, MEAN LEUKOCYTE; LTL", "OMIM:609114": "DESTRIN; DSTN", "OMIM:609116": "RESPIRATORY RHYTHMICITY IN SLEEP", "OMIM:609117": "F-BOX ONLY PROTEIN 46; FBXO46", "OMIM:609118": "PROGRAMMED CELL DEATH 10; PDCD10", "OMIM:609119": "THAP DOMAIN-CONTAINING PROTEIN 11; THAP11", "OMIM:609120": "CATION CHANNEL, SPERM-ASSOCIATED, 3; CATSPER3", "OMIM:609121": "CATION CHANNEL, SPERM-ASSOCIATED, 4; CATSPER4", "OMIM:609123": "ATPase, CLASS I, TYPE 8B, MEMBER 4; ATP8B4", "OMIM:609124": "ZINC FINGER PROTEIN 385A; ZNF385A", "OMIM:609125": "MOTILE SPERM DOMAIN-CONTAINING PROTEIN 3; MOSPD3", "OMIM:609126": "ATPase, CLASS II, TYPE 9A; ATP9A", "OMIM:609130": "CENTROMERIC PROTEIN S; CENPS", "OMIM:609131": "CLAUDIN 7; CLDN7", "OMIM:609132": "LYSINE DEMETHYLASE 1A; KDM1A", "OMIM:609133": "FLT3-INTERACTING ZINC FINGER PROTEIN 1; FIZ1", "OMIM:609134": "UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 2; UBR2", "OMIM:609137": "RECEPTOR-TRANSPORTING PROTEIN 1; RTP1", "OMIM:609138": "RECEPTOR-TRANSPORTING PROTEIN 2; RTP2", "OMIM:609139": "RECEPTOR EXPRESSION-ENHANCING PROTEIN 1; REEP1", "OMIM:609142": "CEA CELL ADHESION MOLECULE 3; CEACAM3", "OMIM:609144": "FLVCR HEME TRANSPORTER 1; FLVCR1", "OMIM:609145": "NEUROFASCIN; NFASC", "OMIM:609146": "RIC8 GUANINE NUCLEOTIDE EXCHANGE FACTOR A; RIC8A", "OMIM:609147": "RIC8 GUANINE NUCLEOTIDE EXCHANGE FACTOR B; RIC8B", "OMIM:609148": "MALARIA, MILD, SUSCEPTIBILITY TO", "OMIM:609149": "SOLUTE CARRIER FAMILY 29 (MONOAMINE TRANSPORTER), MEMBER 4; SLC29A4", "OMIM:609150": "CXXC FINGER PROTEIN 1; CXXC1", "OMIM:609151": "UBX DOMAIN PROTEIN 11; UBXN11", "OMIM:609154": "ACHAETE-SCUTE FAMILY bHLH TRANSCRIPTION FACTOR 3; ASCL3", "OMIM:609155": "ACHAETE-SCUTE FAMILY bHLH TRANSCRIPTION FACTOR 4; ASCL4", "OMIM:609156": "NICALIN; NCLN", "OMIM:609157": "NODAL MODULATOR 1; NOMO1", "OMIM:609158": "NODAL MODULATOR 2; NOMO2", "OMIM:609159": "NODAL MODULATOR 3; NOMO3", "OMIM:609163": "HYDROXYCARBOXYLIC ACID RECEPTOR 2; HCAR2", "OMIM:609164": "UMBILICUS, FAMILIAL FLAT", "OMIM:609168": "SHUGOSHIN-LIKE 1; SGOL1", "OMIM:609169": "GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, SPERMATOGENIC; GAPDHS", "OMIM:609170": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 4; TXNDC4", "OMIM:609171": "CDC42 EFFECTOR PROTEIN 5; CDC42EP5", "OMIM:609172": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 16A; PPP1R16A", "OMIM:609173": "KINETOCHORE SCAFFOLD 1; KNL1", "OMIM:609174": "NSL1, MIS12 KINETOCHORE COMPLEX COMPONENT; NSL1", "OMIM:609175": "DSN1, MIS12 KINETOCHORE COMPLEX COMPONENT; DSN1", "OMIM:609176": "POLYAMINE-MODULATED FACTOR 1; PMF1", "OMIM:609177": "ZW10 INTERACTING KINETOCHORE PROTEIN; ZWINT", "OMIM:609178": "MIS12 KINETOCHORE COMPLEX COMPONENT; MIS12", "OMIM:609179": "MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7", "OMIM:609181": "DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 4; DYRK4", "OMIM:609182": "SOLUTE CARRIER FAMILY 35, MEMBER D2; SLC35D2", "OMIM:609183": "AURORA KINASE A-INTERACTING PROTEIN 1; AURKAIP1", "OMIM:609184": "KINESIN FAMILY MEMBER 4B; KIF4B", "OMIM:609185": "ZINC FINGER AND HOMEODOMAIN PROTEIN 2; ZHX2", "OMIM:609186": "D-2-HYDROXYGLUTARATE DEHYDROGENASE; D2HGDH", "OMIM:609187": "SUCCINYL-CoA:GLUTARATE-CoA TRANSFERASE; SUGCT", "OMIM:609188": "M-PHASE-SPECIFIC PLK1-INTERACTING PROTEIN; MPLKIP", "OMIM:609189": "ANTI-SILENCING FUNCTION 1A HISTONE CHAPERONE; ASF1A", "OMIM:609190": "ANTI-SILENCING FUNCTION 1B HISTONE CHAPERONE; ASF1B", "OMIM:609191": "PROTEIN KINASE A-INTERACTING PROTEIN 1; AKIP1", "OMIM:609193": "LEUCINE-RICH REPEAT PROTEIN 1; LRR1", "OMIM:609194": "CDK5 AND ABL ENZYME SUBSTRATE 1; CABLES1", "OMIM:609196": "MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN; MRAP", "OMIM:609198": "ADAMTS-LIKE PROTEIN 1; ADAMTSL1", "OMIM:609199": "ADAMTS-LIKE PROTEIN 3; ADAMTSL3", "OMIM:609201": "UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN B; UBASH3B", "OMIM:609202": "SECRETAGOGIN; SCGN", "OMIM:609203": "CLAUDIN 23; CLDN23", "OMIM:609204": "MITOCHONDRIAL RIBOSOMAL PROTEIN S16: MRPS16", "OMIM:609205": "DAB2-INTERACTING PROTEIN; DAB2IP", "OMIM:609206": "EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, EPSILON-1; EEF1E1", "OMIM:609207": "MELANOREGULIN; MREG", "OMIM:609208": "KAZAL-TYPE SERINE PEPTIDASE INHIBITOR DOMAIN 1; KAZALD1", "OMIM:609209": "INFLUENZA VIRUS NS1A-BINDING PROTEIN; IVNS1ABP", "OMIM:609210": "CLAUDIN 18; CLDN18", "OMIM:609211": "MYOSIN, LIGHT CHAIN 12B, REGULATORY; MYL12B", "OMIM:609212": "ASPARAGINASE-LIKE PROTEIN 1; ASRGL1", "OMIM:609213": "SEC61 TRANSLOCON, ALPHA-1 SUBUNIT; SEC61A1", "OMIM:609214": "SEC61 TRANSLOCON, BETA SUBUNIT; SEC61B", "OMIM:609215": "SEC61 TRANSLOCON, GAMMA SUBUNIT; SEC61G", "OMIM:609216": "SPIRE-TYPE ACTIN NUCLEATION FACTOR 1; SPIRE1", "OMIM:609217": "SPIRE-TYPE ACTIN NUCLEATION FACTOR 2; SPIRE2", "OMIM:609219": "NUDIX HYDROLASE 14; NUDT14", "OMIM:609221": "N-ACETYLTRANSFERASE 10; NAT10", "OMIM:609224": "WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 1; WIPI1", "OMIM:609225": "WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 2; WIPI2", "OMIM:609226": "WD REPEAT-CONTAINING PROTEIN 45B; WDR45B", "OMIM:609228": "NUDIX HYDROLASE 3; NUDT3", "OMIM:609229": "NUDIX HYDROLASE 4; NUDT4", "OMIM:609230": "NUDIX HYDROLASE 5; NUDT5", "OMIM:609231": "NUDIX HYDROLASE 7; NUDT7", "OMIM:609232": "NUDIX HYDROLASE 12; NUDT12", "OMIM:609233": "NUDIX HYDROLASE 13; NUDT13", "OMIM:609234": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2A; EIF2A", "OMIM:609235": "BR SERINE/THREONINE KINASE 1; BRSK1", "OMIM:609236": "BR SERINE/THREONINE KINASE 2; BRSK2", "OMIM:609237": "IQ MOTIF-CONTAINING PROTEIN B1; IQCB1", "OMIM:609238": "RAB GTPase-ACTIVATING PROTEIN 1-LIKE; RABGAP1L", "OMIM:609239": "LYSOPHOSPHATIDIC ACID RECEPTOR 6; LPAR6", "OMIM:609240": "HISTONE H3-ASSOCIATED PROTEIN KINASE; HASPIN", "OMIM:609243": "RETINOIC ACID EARLY TRANSCRIPT 1E; RAET1E", "OMIM:609244": "RETINOIC ACID EARLY TRANSCRIPT 1G; RAET1G", "OMIM:609245": "G PROTEIN SIGNALING MODULATOR 2; GPSM2", "OMIM:609246": "PYRIDOXAL PHOSPHATASE; PDXP", "OMIM:609247": "RING FINGER PROTEIN 13; RNF13", "OMIM:609248": "HECT DOMAIN AND RCC1-LIKE DOMAIN 4; HERC4", "OMIM:609249": "HECT DOMAIN AND RCC1-LIKE DOMAIN 6; HERC6", "OMIM:609250": "HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS, AND CLEFT LIP/PALATE", "OMIM:609251": "Fc RECEPTOR-LIKE PROTEIN B; FCRLB", "OMIM:609252": "LIPASE I; LIPI", "OMIM:609261": "STUTTERING, FAMILIAL PERSISTENT, 2; STUT2", "OMIM:609262": "CEREBLON; CRBN", "OMIM:609263": "SEH1-LIKE PROTEIN; SEH1L", "OMIM:609264": "NUCLEOPORIN, 37-KD; NUP37", "OMIM:609267": "MELANOMA ANTIGEN, FAMILY F, 1; MAGEF1", "OMIM:609268": "SPLICING REGULATORY PROTEIN, GLUTAMINE/LYSINE-RICH, 1; SREK1", "OMIM:609269": "KIAA0319 GENE; KIAA0319", "OMIM:609271": "KERATOCONUS 4; KTCN4", "OMIM:609272": "TRYPTASE, DELTA-1; TPSD1", "OMIM:609274": "NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE, 2; NACA2", "OMIM:609275": "RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2", "OMIM:609276": "NON-SMC CONDENSIN II COMPLEX SUBUNIT D3; NCAPD3", "OMIM:609277": "MOLYBDENUM COFACTOR SYNTHESIS 3; MOCS3", "OMIM:609278": "IZUMO SPERM-EGG FUSION PROTEIN 1; IZUMO1", "OMIM:609279": "CENTROMERIC PROTEIN J; CENPJ", "OMIM:609280": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 4; EIF2AK4", "OMIM:609281": "MOB KINASE ACTIVATOR 1A; MOB1A", "OMIM:609282": "MOB KINASE ACTIVATOR 1B; MOB1B", "OMIM:609287": "SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B1; SH3GLB1", "OMIM:609288": "SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B2; SH3GLB2", "OMIM:609290": "ADENYLATE KINASE 3; AK3", "OMIM:609291": "SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1", "OMIM:609292": "SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 2; SPRED2", "OMIM:609293": "SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 3; SPRED3", "OMIM:609294": "SEMAPHORIN 6C; SEMA6C", "OMIM:609295": "SEMAPHORIN 6D; SEMA6D", "OMIM:609296": "B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS; BILU", "OMIM:609297": "SEMAPHORIN 5A; SEMA5A", "OMIM:609298": "SEMAPHORIN 5B; SEMA5B", "OMIM:609299": "PROSTATE CANCER, HEREDITARY, 5; HPC5", "OMIM:609300": "CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1", "OMIM:609301": "p53 EFFECTOR RELATED TO PMP22; PERP", "OMIM:609302": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER 22; SLC25A22", "OMIM:609303": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER 18; SLC25A18", "OMIM:609305": "LATEXIN; LXN", "OMIM:609309": "MutS HOMOLOG 2; MSH2", "OMIM:609312": "DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH", "OMIM:609314": "RADIAL SPOKE HEAD COMPONENT 1; RSPH1", "OMIM:609315": "TRIPARTITE MOTIF-CONTAINING PROTEIN 7; TRIM7", "OMIM:609316": "TRIPARTITE MOTIF-CONTAINING PROTEIN 31; TRIM31", "OMIM:609317": "TRIPARTITE MOTIF-CONTAINING PROTEIN 36; TRIM36", "OMIM:609318": "TRIPARTITE MOTIF-CONTAINING PROTEIN 45; TRIM45", "OMIM:609319": "HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HCHGQ1", "OMIM:609320": "HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HCHGQ2", "OMIM:609321": "SAS6 CENTRIOLAR ASSEMBLY PROTEIN; SASS6", "OMIM:609323": "OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 3; OLIG3", "OMIM:609326": "MICRO RNA 1-1; MIR1-1", "OMIM:609327": "MICRO RNA 124-1; MIR124-1", "OMIM:609328": "URIDINE/CYTIDINE KINASE 1; UCK1", "OMIM:609329": "URIDINE/CYTIDINE KINASE 2; UCK2", "OMIM:609330": "ONCOPROTEIN-INDUCED TRANSCRIPT 3; OIT3", "OMIM:609331": "BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E23; BHLHE23", "OMIM:609332": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 7A; TTC7A", "OMIM:609333": "TRACE AMINE-ASSOCIATED RECEPTOR 1; TAAR1", "OMIM:609334": "CHROMOSOME 18 PERICENTRIC INVERSION", "OMIM:609335": "ODR4 GPCR LOCALIZATION FACTOR HOMOLOG; ODR4", "OMIM:609336": "ANGIOPOIETIN-LIKE 6; ANGPTL6", "OMIM:609337": "MICRO RNA 155; MIR155", "OMIM:609338": "CAROTID INTIMAL MEDIAL THICKNESS 1; IMT1", "OMIM:609341": "TRYPTASE, GAMMA-1; TPSG1", "OMIM:609342": "COBALAMIN-BINDING INTRINSIC FACTOR; CBLIF", "OMIM:609343": "PROTEASE, SERINE, 22; PRSS22", "OMIM:609344": "KIELIN/CHORDIN-LIKE PROTEIN", "OMIM:609345": "CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE ACETABULA", "OMIM:609346": "RECEPTOR EXPRESSION-ENHANCING PROTEIN 6; REEP6", "OMIM:609347": "RECEPTOR EXPRESSION-ENHANCING PROTEIN 2; REEP2", "OMIM:609348": "RECEPTOR EXPRESSION-ENHANCING PROTEIN 3; REEP3", "OMIM:609349": "RECEPTOR EXPRESSION-ENHANCING PROTEIN 4; REEP4", "OMIM:609350": "RECEPTOR-TRANSPORTING PROTEIN 4; RTP4", "OMIM:609351": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 11; ARL11", "OMIM:609353": "ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACETYLTRANSFERASE 2; ESCO2", "OMIM:609354": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 5; BMND5", "OMIM:609355": "MICRO RNA 32; MIR32", "OMIM:609356": "NUCLEAR FMRP-INTERACTING PROTEIN 2; NUFIP2", "OMIM:609357": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 10; MCM10", "OMIM:609358": "ETS VARIANT TRANSCRIPTION FACTOR 2; ETV2", "OMIM:609359": "HS1-BINDING PROTEIN 3; HS1BP3", "OMIM:609360": "RENALASE; RNLS", "OMIM:609361": "MOB FAMILY, MEMBER 4; MOB4", "OMIM:609362": "LYSOPHOSPHOLIPASE 3; LYPLA3", "OMIM:609363": "COLLOID CYSTS OF THIRD VENTRICLE", "OMIM:609364": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 2; NLRP2", "OMIM:609365": "GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 2; GNL2", "OMIM:609366": "CTR9 HOMOLOG, PAF1/RNA POLYMERASE II COMPLEX COMPONENT; CTR9", "OMIM:609367": "KINESIN FAMILY BINDING PROTEIN; KIFBP", "OMIM:609368": "ATLASTIN GTPase 2; ATL2", "OMIM:609369": "ATLASTIN GTPase 3; ATL3", "OMIM:609370": "SERINE/THREONINE KINASE 35; STK35", "OMIM:609371": "FAMILY WITH SEQUENCE SIMILARITY 13, MEMBER B; FAM13B", "OMIM:609372": "FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER C; FAM53C", "OMIM:609373": "LYSINE DEMETHYLASE 3B; KDM3B", "OMIM:609374": "CELL DIVISION CYCLE-ASSOCIATED PROTEIN 5; CDCA5", "OMIM:609375": "LIN9 DREAM MUVB CORE COMPLEX COMPONENT; LIN9", "OMIM:609377": "ACD SHELTERIN COMPLEX SUBUNIT AND TELOMERASE RECRUITMENT FACTOR; ACD", "OMIM:609378": "AUTISM, SUSCEPTIBILITY TO, 6; AUTS6", "OMIM:609379": "LIPOCALIN 6; LCN6", "OMIM:609380": "LEISHMANOLYSIN-LIKE; LMLN", "OMIM:609381": "SYNTAXIN-BINDING PROTEIN 5-LIKE; STXBP5L", "OMIM:609382": "IMMEDIATE-EARLY RESPONSE 3-INTERACTING PROTEIN 1; IER3IP1", "OMIM:609383": "NIPA-LIKE DOMAIN-CONTAINING PROTEIN 4; NIPAL4", "OMIM:609385": "DND MICRO RNA-MEDIATED REPRESSION INHIBITOR 1; DND1", "OMIM:609386": "STRUCTURAL MAINTENANCE OF CHROMOSOMES 5; SMC5", "OMIM:609387": "STRUCTURAL MAINTENANCE OF CHROMOSOMES 6; SMC6", "OMIM:609388": "METHYLTRANSFERASE-LIKE 9; METTL9", "OMIM:609389": "INOSITOL POLYPHOSPHATE 5-PHOSPHATASE F; INPP5F", "OMIM:609390": "FIG4 PHOSPHOINOSITIDE 5-PHOSPHATASE; FIG4", "OMIM:609391": "TRANSCRIPTION FACTOR Sp5; SP5", "OMIM:609392": "KRUPPEL-LIKE FACTOR 3; KLF3", "OMIM:609393": "KRUPPEL-LIKE FACTOR 14; KLF14", "OMIM:609394": "SPC24, NDC80 KINETOCHORE COMPLEX COMPONENT; SPC24", "OMIM:609395": "SPC25, NDC80 KINETOCHORE COMPLEX COMPONENT; SPC25", "OMIM:609396": "PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE 1; PHLPP1", "OMIM:609397": "STORKHEAD BOX 1; STOX1", "OMIM:609398": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 34-KD, V1 SUBUNIT D; ATP6V1D", "OMIM:609399": "SPERM EQUATORIAL SEGMENT PROTEIN 1; SPESP1", "OMIM:609400": "AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4; AIS4", "OMIM:609401": "HEPARAN SULFATE 6-O-SULFOTRANSFERASE 3; HS6ST3", "OMIM:609402": "PREECLAMPSIA/ECLAMPSIA 2; PEE2", "OMIM:609403": "PREECLAMPSIA/ECLAMPSIA 3; PEE3", "OMIM:609405": "RHO GTPase-ACTIVATING PROTEIN 8; ARHGAP8", "OMIM:609406": "PROLINE-RICH PROTEIN 5; PRR5", "OMIM:609407": "HEPARAN SULFATE-GLUCOSAMINE 3-SULFOTRANSFERASE 5; HS3ST5", "OMIM:609408": "HOLOPROSENCEPHALY 8; HPE8", "OMIM:609409": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A0; HNRNPA0", "OMIM:609410": "SYNAPTOJANIN 2; SYNJ2", "OMIM:609411": "SYNAPTOJANIN 2-BINDING PROTEIN; SYNJ2BP", "OMIM:609412": "ERCC EXCISION REPAIR 8, CSA UBIQUITIN LIGASE COMPLEX SUBUNIT; ERCC8", "OMIM:609413": "ERCC EXCISION REPAIR 6, CHROMATIN REMODELING FACTOR; ERCC6", "OMIM:609414": "PHOSPHOINOSITIDE KINASE, FYVE FINGER-CONTAINING; PIKFYVE", "OMIM:609415": "MICRO RNA 17 HOST GENE; MIR17HG", "OMIM:609416": "MICRO RNA 17; MIR17", "OMIM:609417": "MICRO RNA 18A; MIR18A", "OMIM:609418": "MICRO RNA 19A; MIR19A", "OMIM:609419": "MICRO RNA 19B1; MIR19B1", "OMIM:609420": "MICRO RNA 20A; MIR20A", "OMIM:609422": "MICRO RNA 92A1; MIR92A1", "OMIM:609423": "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "OMIM:609424": "RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING 1; RC3H1", "OMIM:609426": "MISSHAPEN/NIK-RELATED KINASE 1; MINK1", "OMIM:609427": "LHFPL TETRASPAN SUBFAMILY, MEMBER 5; LHFPL5", "OMIM:609429": "FORKHEAD BOX N4; FOXN4", "OMIM:609430": "NEURONAL PAS DOMAIN PROTEIN 3; NPAS3", "OMIM:609431": "MAP3K12-BINDING INHIBITORY PROTEIN; MBIP", "OMIM:609433": "UBIQUITIN INTERACTION MOTIF-CONTAINING PROTEIN 1; UIMC1", "OMIM:609434": "LUC7-LIKE 3 PRE-mRNA SPLICING FACTOR; LUC7L3", "OMIM:609435": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A13; NDUFA13", "OMIM:609436": "FIBROBLAST GROWTH FACTOR 21; FGF21", "OMIM:609437": "SERINE/THREONINE PROTEIN KINASE 40; STK40", "OMIM:609440": "UTP11-LIKE PROTEIN; UTP11L", "OMIM:609442": "VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO", "OMIM:609443": "CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 2A; CELA2A", "OMIM:609444": "CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 2B; CELA2B", "OMIM:609445": "RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 3; RXFP3", "OMIM:609447": "MARGINAL ZONE B AND B1 CELL-SPECIFIC PROTEIN; MZB1", "OMIM:609448": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 12; TXNDC12", "OMIM:609449": "NUDE NEURODEVELOPMENT PROTEIN 1; NDE1", "OMIM:609450": "MAX DIMERIZATION PROTEIN 3; MXD3", "OMIM:609451": "ZFP90 ZINC FINGER PROTEIN; ZFP90", "OMIM:609453": "GOLGIN A7; GOLGA7", "OMIM:609455": "PROLINE-, GLUTAMIC ACID-, AND LEUCINE-RICH PROTEIN 1; PELP1", "OMIM:609457": "HISTIDINE AMMONIA-LYASE; HAL", "OMIM:609458": "MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1", "OMIM:609459": "DIGEORGE SYNDROME CRITICAL REGION GENE 6-LIKE; DGCR6L", "OMIM:609461": "TRIBBLES PSEUDOKINASE 1; TRIB1", "OMIM:609462": "TRIBBLES PSEUDOKINASE 2; TRIB2", "OMIM:609463": "MYOCARDIN-RELATED TRANSCRIPTION FACTOR B; MRTFB", "OMIM:609466": "CLEFT PALATE, MIDFACIAL HYPOPLASIA, TRIANGULAR FACIES, AND SENSORINEURAL HEARING LOSS", "OMIM:609467": "CHEMOKINE, CC MOTIF, LIGAND 3, PSEUDOGENE 1; CCL3P1", "OMIM:609468": "CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 3; CCL3L3", "OMIM:609469": "NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS", "OMIM:609470": "LEFT VENTRICULAR NONCOMPACTION 2; LVNC2", "OMIM:609471": "GLUCOSIDASE, BETA, ACID 2; GBA2", "OMIM:609472": "CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-4; CNGA4", "OMIM:609473": "CINGULIN; CGN", "OMIM:609474": "NEURONAL PENTRAXIN RECEPTOR; NPTXR", "OMIM:609475": "A-KINASE ANCHOR PROTEIN 8-LIKE PROTEIN; AKAP8L", "OMIM:609476": "NEMO-LIKE KINASE; NLK", "OMIM:609477": "SINGLE-PASS MEMBRANE PROTEIN WITH COILED-COIL DOMAINS 4; SMCO4", "OMIM:609478": "ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 3; ST8SIA3", "OMIM:609479": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 20; MAP3K20", "OMIM:609481": "ISL2 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL2", "OMIM:609482": "ANTERIOR GRADIENT 3, PROTEIN DISULPHIDE ISOMERASE FAMILY MEMBER; AGR3", "OMIM:609483": "LRAT DOMAIN-CONTAINING PROTEIN 2; LRATD2", "OMIM:609484": "LY6/PLAUR DOMAIN-CONTAINING PROTEIN 3; LYPD3", "OMIM:609485": "MODULATOR OF APOPTOSIS 1; MOAP1", "OMIM:609486": "E2F-ASSOCIATED PHOSPHOPROTEIN; EAPP", "OMIM:609487": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 2; MAP3K2", "OMIM:609488": "CANCER/TESTIS ANTIGEN KM-HN-1", "OMIM:609489": "MANNOSIDASE, BETA A, LYSOSOMAL; MANBA", "OMIM:609490": "INHIBITORY CASPASE RECRUITMENT DOMAIN PROTEIN", "OMIM:609491": "G PROTEIN SIGNALING MODULATOR 1; GPSM1", "OMIM:609492": "RAS ASSOCIATION DOMAIN FAMILY PROTEIN 2; RASSF2", "OMIM:609493": "SLC2A4 REGULATOR; SLC2A4RG", "OMIM:609494": "ZINC FINGER PROTEIN 395; ZNF395", "OMIM:609495": "GAMETOGENETIN-BINDING PROTEIN 1; GGNBP1", "OMIM:609497": "ENDOPLASMIC RETICULUM AMINOPEPTIDASE 2; ERAP2", "OMIM:609498": "F-BOX ONLY PROTEIN 47", "OMIM:609499": "MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE-LIKE; MCF2L", "OMIM:609501": "TUDOR AND KH DOMAINS-CONTAINING PROTEIN; TDRKH", "OMIM:609502": "CADHERIN-RELATED FAMILY, MEMBER 1; CDHR1", "OMIM:609503": "SPERM MICROTUBULE-ASSOCIATED PROTEIN 2; SPMAP2", "OMIM:609504": "MICROSPHERULE PROTEIN 1; MCRS1", "OMIM:609505": "TRIPARTITE MOTIF-CONTAINING PROTEIN 16; TRIM16", "OMIM:609506": "CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1", "OMIM:609507": "TOPOISOMERASE I-BINDING ARGININE/SERINE-RICH PROTEIN; TOPORS", "OMIM:609509": "INTERLEUKIN 31; IL31", "OMIM:609510": "INTERLEUKIN 31 RECEPTOR A; IL31RA", "OMIM:609511": "RABENOSYN, RAB EFFECTOR; RBSN", "OMIM:609512": "CHARGED MULTIVESICULAR BODY PROTEIN 2B; CHMP2B", "OMIM:609513": "NEUROPEPTIDE S", "OMIM:609514": "TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 8; TAF8", "OMIM:609515": "IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES", "OMIM:609516": "ZINC FINGER PROTEIN 382; ZNF382", "OMIM:609517": "TGFB1-INDUCED ANTIAPOPTOTIC FACTOR 1; TIAF1", "OMIM:609518": "THAP DOMAIN-CONTAINING PROTEIN 7; THAP7", "OMIM:609519": "TCF3 FUSION PARTNER; TFPT", "OMIM:609520": "THAP DOMAIN-CONTAINING PROTEIN 1; THAP1", "OMIM:609521": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 1; SLC30A1", "OMIM:609522": "ELONGIN A2; ELOA2", "OMIM:609523": "ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2", "OMIM:609525": "METHYLTRANSFERASE 8, METHYLCYTIDINE; METTL8", "OMIM:609526": "PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G4; PLEKHG4", "OMIM:609527": "RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; RAPGEF5", "OMIM:609530": "RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RAPGEF2", "OMIM:609531": "RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 3; RASGRP3", "OMIM:609532": "HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "OMIM:609534": "ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 5; ATAD5", "OMIM:609535": "DRUG METABOLISM, POOR, CYP2C19-RELATED", "OMIM:609537": "LIPOMYELOMENINGOCELE", "OMIM:609538": "PROTEIN-TYROSINE PHOSPHATASE, MITOCHONDRIAL, 1; PTPMT1", "OMIM:609539": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2", "OMIM:609540": "SKI8 SUBUNIT OF SUPERKILLER COMPLEX; SKIC8", "OMIM:609542": "ATPase, CLASS I, TYPE 8A, MEMBER 1; ATP8A1", "OMIM:609543": "LONG INTERGENIC NONCODING RNA 293; LINC00293", "OMIM:609544": "CENTRIOLAR COILED-COIL PROTEIN, 110-KD; CCP110", "OMIM:609545": "OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS", "OMIM:609546": "UBIQUITIN-SPECIFIC PROTEASE 29; USP29", "OMIM:609548": "LECTIN, MANNOSE-BINDING 1-LIKE; LMAN1L", "OMIM:609550": "ZINC FINGER PROTEIN 330; ZNF330", "OMIM:609551": "LECTIN, MANNOSE-BINDING 2; LMAN2", "OMIM:609552": "LECTIN, MANNOSE-BINDING 2-LIKE; LMAN2L", "OMIM:609553": "RETBINDIN", "OMIM:609554": "INTEGRAL MEMBRANE PROTEIN 2C; ITM2C", "OMIM:609555": "CARBOXYPEPTIDASE X, M14 FAMILY, MEMBER 1; CPXM1", "OMIM:609556": "ATPase 13A4; ATP13A4", "OMIM:609557": "PROLYL ENDOPEPTIDASE-LIKE; PREPL", "OMIM:609558": "PROSTATE CANCER, HEREDITARY, 6", "OMIM:609559": "CALMODULIN LYSINE N-METHYLTRANSFERASE; CAMKMT", "OMIM:609561": "CARBOXYPEPTIDASE A5; CPA5", "OMIM:609562": "CARBOXYPEPTIDASE A6; CPA6", "OMIM:609563": "CARBOXYPEPTIDASE O; CPO", "OMIM:609564": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 10; PARP10", "OMIM:609565": "MAST CELL-EXPRESSED MEMBRANE PROTEIN 1", "OMIM:609567": "PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3", "OMIM:609568": "RHO GTPase-ACTIVATING PROTEIN 20; ARHGAP20", "OMIM:609570": "MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8", "OMIM:609571": "ZINC FINGER PROTEIN 699; ZNF699", "OMIM:609572": "PHOTOPAROXYSMAL RESPONSE 2; PPR2", "OMIM:609573": "PHOTOPAROXYSMAL RESPONSE 3; PPR3", "OMIM:609574": "17-BETA-HYDROXYSTEROID DEHYDROGENASE XII; HSD17B12", "OMIM:609575": "ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL", "OMIM:609576": "ACYL-CoA DEHYDROGENASE, LONG-CHAIN; ACADL", "OMIM:609577": "CULLIN 7; CUL7", "OMIM:609578": "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 2; RCM2", "OMIM:609580": "NINEIN-LIKE PROTEIN; NINL", "OMIM:609582": "MICRO RNA 122A; MIR122A", "OMIM:609584": "L-2-HYDROXYGLUTARATE DEHYDROGENASE; L2HGDH", "OMIM:609585": "COMPLEXIN 3; CPLX3", "OMIM:609586": "COMPLEXIN 4; CPLX4", "OMIM:609587": "REGULATOR OF CHROMOSOME CONDENSATION 2; RCC2", "OMIM:609588": "GLUTAREDOXIN 5; GLRX5", "OMIM:609589": "MICROTUBULE-ASSOCIATED SCAFFOLD PROTEIN 1; MTUS1", "OMIM:609590": "QKI, KH DOMAIN-CONTAINING RNA-BINDING PROTEIN; QKI", "OMIM:609591": "RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1", "OMIM:609592": "RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 2; RIT2", "OMIM:609593": "CAPPING PROTEIN REGULATOR AND MYOSIN 1 LINKER 1; CARMIL1", "OMIM:609594": "VENTRICULAR ZONE-EXPRESSED PH DOMAIN-CONTAINING PROTEIN, ZEBRAFISH, HOMOLOG OF, 1; VEPH1", "OMIM:609595": "R-SPONDIN 1; RSPO1", "OMIM:609596": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT K; EIF3K", "OMIM:609598": "ZINC FINGER AND HOMEODOMAIN PROTEIN 3; ZHX3", "OMIM:609599": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1; ANKRD1", "OMIM:609600": "ZINC FINGER PROTEIN 396; ZNF396", "OMIM:609601": "ZINC FINGER PROTEIN 397; ZNF397", "OMIM:609602": "KRUPPEL-LIKE FACTOR 17; KLF17", "OMIM:609603": "CRYSTALLIN, GAMMA-N; CRYGN", "OMIM:609604": "MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, BETA; MAP1LC3B", "OMIM:609605": "MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, GAMMA; MAP1LC3C", "OMIM:609606": "AUTOPHAGY-RELATED 3; ATG3", "OMIM:609607": "NECTIN CELL ADHESION MOLECULE 4; NECTIN4", "OMIM:609608": "AUTOPHAGY-RELATED 12; ATG12", "OMIM:609610": "TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 4; TUBGCP4", "OMIM:609611": "ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER E; ANP32E", "OMIM:609613": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 2; PLEKHM2", "OMIM:609614": "RNA EXONUCLEASE 1 HOMOLOG; REXO1", "OMIM:609615": "QUEUINE tRNA-RIBOSYLTRANSFERASE 1; QTRT1", "OMIM:609617": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 2; SLC30A2", "OMIM:609618": "NONCODING REPRESSOR OF NFAT; NRON", "OMIM:609619": "GOLGIN A8 FAMILY, MEMBER B; GOLGA8B", "OMIM:609623": "RAS-INTERACTING PROTEIN 1; RASIP1", "OMIM:609624": "MITOCHONDRIAL COILED-COIL DOMAIN 1; MCCD1", "OMIM:609626": "MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 1; MDGA1", "OMIM:609627": "TASTE RECEPTOR, TYPE 2, MEMBER 50; TAS2R50", "OMIM:609629": "VISCERAL NEUROPATHY, FAMILIAL, 3, AUTOSOMAL DOMINANT; VSCN3", "OMIM:609630": "LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1", "OMIM:609631": "RNA SENSOR RIGI; RIGI", "OMIM:609632": "GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 5; GDPD5", "OMIM:609633": "MAJOR AFFECTIVE DISORDER 3; MAFD3", "OMIM:609635": "TRANSCRIPTION FACTOR 23; TCF23", "OMIM:609639": "HEMOGLOBIN MU", "OMIM:609641": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M", "OMIM:609642": "T-CELL ANTIGEN RECEPTOR, GAMMA SUBUNIT, ALTERNATE READING FRAME PROTEIN", "OMIM:609643": "NGUYEN SYNDROME", "OMIM:609644": "FANCM GENE; FANCM", "OMIM:609645": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 4; NLRP4", "OMIM:609648": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 12; NLRP12", "OMIM:609650": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 6; NLRP6", "OMIM:609651": "GLYCOPROTEIN HORMONE, ALPHA-2; GPHA2", "OMIM:609652": "GLYCOPROTEIN HORMONE, BETA-5; GPHB5", "OMIM:609653": "NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 2; NDUFAF2", "OMIM:609656": "BONE SIZE QUANTITATIVE TRAIT LOCUS 1", "OMIM:609657": "BONE SIZE QUANTITATIVE TRAIT LOCUS 2", "OMIM:609658": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 5; NLRP5", "OMIM:609659": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 8; NLRP8", "OMIM:609660": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 13; NLRP13", "OMIM:609661": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 7; NLRP7", "OMIM:609662": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 10; NLRP10", "OMIM:609663": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 9; NLRP9", "OMIM:609664": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 11; NLRP11", "OMIM:609665": "NLR FAMILY, PYRIN DOMAIN-CONTAINING 14; NLRP14", "OMIM:609666": "TWO-PORE SEGMENT CHANNEL 1; TPCN1", "OMIM:609667": "T-CELL ACTIVATION GTPase-ACTIVATING PROTEIN; TAGAP", "OMIM:609668": "PROTEIN PHOSPHATASE TARGETING COQ7; PPTC7", "OMIM:609669": "WD REPEAT-CONTAINING PROTEIN 36; WDR36", "OMIM:609670": "MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9", "OMIM:609671": "STEAP3 METALLOREDUCTASE; STEAP3", "OMIM:609672": "EXOCYST COMPLEX COMPONENT 6; EXOC6", "OMIM:609673": "PLATELET-DERIVED GROWTH FACTOR D; PDGFD", "OMIM:609674": "ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACEYTLTRANSFERASE 1; ESCO1", "OMIM:609675": "SCLEROSTIN DOMAIN-CONTAINING PROTEIN 1; SOSTDC1", "OMIM:609676": "MITOCHONDRIAL ANTIVIRAL SIGNALING PROTEIN; MAVS", "OMIM:609677": "OS9 ENDOPLASMIC RETICULUM LECTIN; OS9", "OMIM:609678": "SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1", "OMIM:609679": "SLIT- AND NTRK-LIKE FAMILY, MEMBER 3; SLITRK3", "OMIM:609680": "SLIT- AND NTRK-LIKE FAMILY, MEMBER 5; SLITRK5", "OMIM:609681": "SLIT- AND NTRK-LIKE FAMILY, MEMBER 6; SLITRK6", "OMIM:609682": "DNA CROSS-LINK REPAIR PROTEIN 1A; DCLRE1A", "OMIM:609683": "DNA CROSS-LINK REPAIR PROTEIN 1B; DCLRE1B", "OMIM:609684": "MAL PROTEOLIPID PROTEIN 2; MAL2", "OMIM:609685": "CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7-LIKE; CDCA7L", "OMIM:609686": "CITRATE LYASE BETA-LIKE; CLYBL", "OMIM:609687": "MICRO RNA 196A2; MIR196A2", "OMIM:609688": "MICRO RNA 196B; MIR196B", "OMIM:609689": "CENTROSOMAL PROTEIN, 250-KD; CEP250", "OMIM:609690": "PHENYLALANINE-tRNA SYNTHETASE, BETA SUBUNIT; FARSB", "OMIM:609691": "FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 3; FHOD3", "OMIM:609692": "WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 2; WIPF2", "OMIM:609693": "VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 7; VWA7", "OMIM:609694": "GEM-INTERACTING PROTEIN; GMIP", "OMIM:609695": "4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; HPD", "OMIM:609696": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 4B; ARID4B", "OMIM:609697": "SIN3A-ASSOCIATED PROTEIN, 130-KD; SAP130", "OMIM:609699": "MONOGLYCERIDE LIPASE; MGLL", "OMIM:609700": "RAB GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RABGEF1", "OMIM:609701": "N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU", "OMIM:609702": "PROTEASOME ASSEMBLY CHAPERONE 2; PSMG2", "OMIM:609703": "MICRO RNA 15A; MIR15A", "OMIM:609704": "MICRO RNA 16-1; MIR16-1", "OMIM:609705": "MICRO RNA 24-1; MIR24-1", "OMIM:609707": "DIHYDROURIDINE SYNTHASE 2-LIKE; DUS2L", "OMIM:609708": "LIPOPROTEIN LIPASE; LPL", "OMIM:609709": "GLYCOSYLTRANSFERASE-LIKE 1B; GYLTL1B", "OMIM:609710": "DENDRITIC CELL-ASSOCIATED NUCLEAR PROTEIN 1; DCANP1", "OMIM:609711": "UBIQUINOL-CYTOCHROME C REDUCTASE, COMPLEX III SUBUNIT XI; UQCR11", "OMIM:609712": "PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR", "OMIM:609713": "HUS1 CHECKPOINT CLAMP COMPONENT B; HUS1B", "OMIM:609714": "TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 1; TREML1", "OMIM:609715": "TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 2; TREML2", "OMIM:609716": "TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 3; TREML3", "OMIM:609717": "PROSTATE CANCER-ASSOCIATED TRANSCRIPT 4; PCAT4", "OMIM:609718": "LHFPL TETRASPAN SUBFAMILY, MEMBER 2; LHFPL2", "OMIM:609719": "LHFPL TETRASPAN SUBFAMILY, MEMBER 3; LHFPL3", "OMIM:609720": "CRUMBS CELL POLARITY COMPLEX COMPONENT 2; CRB2", "OMIM:609721": "POLYCYSTIN 1-LIKE 1; PKD1L1", "OMIM:609722": "PDZ AND LIM DOMAIN PROTEIN 2; PDLIM2", "OMIM:609723": "YIPPEE-LIKE 2; YPEL2", "OMIM:609724": "YIPPEE-LIKE 3; YPEL3", "OMIM:609725": "YIPPEE-LIKE 4; YPEL4", "OMIM:609726": "YIPPEE-LIKE 5; YPEL5", "OMIM:609728": "METHIONYL-tRNA SYNTHETASE 2; MARS2", "OMIM:609729": "PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 3; PDZRN3", "OMIM:609730": "PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 4; PDZRN4", "OMIM:609731": "CYSTATIN 11; CST11", "OMIM:609732": "LIGAND OF NUMB PROTEIN X1; LNX1", "OMIM:609733": "LIGAND OF NUMB PROTEIN X2; LNX2", "OMIM:609735": "RING FINGER AND FYVE-LIKE DOMAIN CONTAINING 1; RFFL", "OMIM:609736": "COILED-COIL DOMAIN-CONTAINING PROTEIN 88A; CCDC88A", "OMIM:609737": "CRUMBS CELL POLARITY COMPLEX COMPONENT 3; CRB3", "OMIM:609738": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 9; IGSF9", "OMIM:609739": "IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING RECEPTOR 1; ILDR1", "OMIM:609740": "PHD FINGER PROTEIN 19; PHF19", "OMIM:609742": "INTERLEUKIN 4-INDUCED GENE 1; IL4I1", "OMIM:609743": "CELL ADHESION MOLECULE 3; CADM3", "OMIM:609744": "CELL ADHESION MOLECULE 4; CADM4", "OMIM:609745": "GLAUCOMA 1, OPEN ANGLE, I; GLC1I", "OMIM:609746": "RHO GTPase-ACTIVATING PROTEIN 10; ARHGAP10", "OMIM:609747": "ACTIN-BINDING RHO-ACTIVATING PROTEIN; ABRA", "OMIM:609748": "UBIQUITIN-LIKE 7; UBL7", "OMIM:609749": "UDP-GLUCURONATE DECARBOXYLASE 1; UXS1", "OMIM:609750": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4; EIG4", "OMIM:609751": "ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1", "OMIM:609752": "NUCLEAR RECEPTOR COACTIVATOR 7; NCOA7", "OMIM:609753": "CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4", "OMIM:609754": "CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2", "OMIM:609755": "CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3", "OMIM:609756": "CHRNA7/FAM7A FUSION GENE; CHRFAM7A", "OMIM:609758": "Na+/K+ TRANSPORTING ATPase-INTERACTING 2; NKAIN2", "OMIM:609759": "PR DOMAIN-CONTAINING PROTEIN 7; PRDM7", "OMIM:609760": "PR DOMAIN-CONTAINING PROTEIN 9; PRDM9", "OMIM:609761": "TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP", "OMIM:609762": "BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOC1S3", "OMIM:609763": "PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, ALPHA; PI4K2A", "OMIM:609764": "LYSINE DEMETHYLASE 4A; KDM4A", "OMIM:609765": "LYSINE DEMETHYLASE 4B; KDM4B", "OMIM:609766": "LYSINE DEMETHYLASE 4D; KDM4D", "OMIM:609767": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 28; SLC25A28", "OMIM:609768": "BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 2; BLOC1S2", "OMIM:609769": "SHORT CHAIN DEHYDROGENASE/REDUCTASE FAMILY 9C, MEMBER 7; SDR9C7", "OMIM:609770": "JUNCTIONAL ADHESION MOLECULE-LIKE; JAML", "OMIM:609771": "UBINUCLEIN 1; UBN1", "OMIM:609772": "CORTACTIN-BINDING PROTEIN 2; CTTNBP2", "OMIM:609773": "EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 2; EID2", "OMIM:609774": "APOPTOSIS INHIBITOR 5; API5", "OMIM:609775": "YIP1 DOMAIN FAMILY, MEMBER 3; YIPF3", "OMIM:609776": "PROLINE-RICH ACIDIC PROTEIN 1; PRAP1", "OMIM:609777": "XIN ACTIN-BINDING REPEAT-CONTAINING PROTEIN 1; XIRP1", "OMIM:609778": "XIN ACTIN-BINDING REPEAT-CONTAINING PROTEIN 2; XIRP2", "OMIM:609779": "NIMA-RELATED KINASE 11; NEK11", "OMIM:609780": "CARBOXYPEPTIDASE, VITELLOGENIC-LIKE; CPVL", "OMIM:609782": "AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 2; AAA2", "OMIM:609783": "INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 5; ITIH5", "OMIM:609784": "UPSTREAM BINDING PROTEIN 1; UBP1", "OMIM:609785": "TRANSCRIPTION FACTOR CP2-LIKE 1; TFCP2L1", "OMIM:609786": "GRAINYHEAD-LIKE 1; GRHL1", "OMIM:609787": "UBIQUITIN-ASSOCIATED PROTEIN 1; UBAP1", "OMIM:609788": "X-RAY RADIATION RESISTANCE-ASSOCIATED 1; XRRA1", "OMIM:609789": "AQUAPORIN 12A; AQP12A", "OMIM:609790": "ALZHEIMER DISEASE 11", "OMIM:609791": "LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 1; LINGO1", "OMIM:609792": "LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 3; LINGO3", "OMIM:609793": "LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 2; LINGO2", "OMIM:609794": "LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 4; LINGO4", "OMIM:609795": "PYROGLUTAMYLATED RF-AMIDE PEPTIDE PRECURSOR PROTEIN; QRFP", "OMIM:609797": "BICD CARGO ADAPTOR 2; BICD2", "OMIM:609798": "NIMA-RELATED KINASE 9; NEK9", "OMIM:609799": "NIMA-RELATED KINASE 8; NEK8", "OMIM:609801": "CD300E ANTIGEN; CD300E", "OMIM:609802": "SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 5; SLC24A5", "OMIM:609803": "ANKYRIN AND ARMADILLO REPEATS-CONTAINING PROTEIN; ANKAR", "OMIM:609804": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 52; CFAP52", "OMIM:609805": "SPERMATOGENESIS-ASSOCIATED PROTEIN 19; SPATA19", "OMIM:609806": "HYDROXYMETHYLBILANE SYNTHASE; HMBS", "OMIM:609807": "CD300 ANTIGEN-LIKE FAMILY, MEMBER F; CD300LF", "OMIM:609809": "LCK-INTERACTING TRANSMEMBRANE ADAPTOR 1; LIME1", "OMIM:609810": "PATERNALLY EXPRESSED GENE 10; PEG10", "OMIM:609811": "CYTOCHROME C OXIDASE, SUBUNIT 7B2; COX7B2", "OMIM:609815": "ZYGODACTYLY 1", "OMIM:609816": "NEUROBEACHIN-LIKE 1; NBEAL1", "OMIM:609817": "VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL", "OMIM:609818": "UBIQUITIN-SPECIFIC PROTEIN 10; USP10", "OMIM:609819": "PRAC1 SMALL NUCLEAR PROTEIN; PRAC1", "OMIM:609822": "STATURE QUANTITATIVE TRAIT LOCUS 7; STQTL7", "OMIM:609824": "HORMA DOMAIN-CONTAINING PROTEIN 1; HORMAD1", "OMIM:609825": "COENZYME Q2, POLYPRENYLTRANSFERASE; COQ2", "OMIM:609826": "SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 3; SLC34A3", "OMIM:609827": "PELLINO E3 UBIQUITIN PROTEIN LIGASE 3; PELI3", "OMIM:609828": "FIBRONECTIN TYPE III AND SPRY DOMAINS-CONTAINING PROTEIN 1; FSD1", "OMIM:609829": "FSD1 N-TERMINUS-LIKE PROTEIN; FSD1NL", "OMIM:609830": "REMOVED FROM DATABASE", "OMIM:609831": "METABOLISM OF COBALAMIN ASSOCIATED C; MMACHC", "OMIM:609832": "SOLUTE CARRIER FAMILY 47, MEMBER 1; SLC47A1", "OMIM:609833": "SOLUTE CARRIER FAMILY 47, MEMBER 2; SLC47A2", "OMIM:609834": "SET AND MARINER TRANSPOSASE DOMAINS-CONTAINING PROTEIN; SETMAR", "OMIM:609835": "MYCBP-ASSOCIATED PROTEIN; MYCBPAP", "OMIM:609836": "PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 2; PCBD2", "OMIM:609837": "SMALL NUCLEOLAR RNA, C/D BOX, 115-1; SNORD115-1", "OMIM:609838": "SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 2; SLC24A2", "OMIM:609839": "SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 3; SLC24A3", "OMIM:609840": "SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 4; SLC24A4", "OMIM:609841": "SOLUTE CARRIER FAMILY 8 (SODIUM/LITHIUM/CALCIUM EXCHANGER), MEMBER B1; SLC8B1", "OMIM:609842": "ENHANCER OF mRNA DECAPPING 3; EDC3", "OMIM:609843": "DECAPPING mRNA 1B; DCP1B", "OMIM:609844": "DECAPPING mRNA 2; DCP2", "OMIM:609845": "SUCRASE-ISOMALTASE; SI", "OMIM:609846": "REGENERATING ISLET-DERIVED FAMILY, MEMBER 4; REG4", "OMIM:609847": "NOTUM, PALMITOLEOYL-PROTEIN CARBOXYLESTERASE; NOTUM", "OMIM:609848": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 11; KCTD11", "OMIM:609849": "CORONIN 1B; CORO1B", "OMIM:609850": "TBC1 DOMAIN FAMILY, MEMBER 1; TBC1D1", "OMIM:609851": "INOSITOL POLYPHOSPHATE MULTIKINASE; IPMK", "OMIM:609852": "MIX1 HOMEOBOX-LIKE PROTEIN 1; MIXL1", "OMIM:609853": "PHOSPHOPANTOTHENOYLCYSTEINE SYNTHETASE; PPCS", "OMIM:609854": "PHOSPHOPANTOTHENOYLCYSTEINE DECARBOXYLASE; PPCDC", "OMIM:609855": "COENZYME A SYNTHASE; COASY", "OMIM:609856": "SPERMATOGENESIS-ASSOCIATED PROTEIN 16; SPATA16", "OMIM:609857": "DYSTROPHIA MYOTONICA WD REPEAT-CONTAINING PROTEIN; DMWD", "OMIM:609858": "ETHANOLAMINE KINASE 1; ETNK1", "OMIM:609859": "ETHANOLAMINE KINASE 2; ETNK2", "OMIM:609860": "DAD1-RELATED GENE", "OMIM:609861": "I-KAPPA-B KINASE-INTERACTING PROTEIN; IKBIP", "OMIM:609862": "TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6", "OMIM:609863": "TECTONIC FAMILY, MEMBER 1; TCTN1", "OMIM:609864": "PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 4-PHOSPHATASE, TYPE II; PIP4P2", "OMIM:609865": "PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 4-PHOSPHATASE, TYPE I; PIP4P1", "OMIM:609866": "START DOMAIN-CONTAINING PROTEIN 13; STARD13", "OMIM:609867": "UBIQUITIN-LIKE DOMAIN-CONTAINING CTD PHOSPHATASE 1; UBLCP1", "OMIM:609868": "SPERMATOGENESIS-ASSOCIATED PROTEIN 7; SPATA7", "OMIM:609869": "SPERMATOGENESIS-ASSOCIATED PROTEIN 12; SPATA12", "OMIM:609870": "RHO GTPase-ACTIVATING PROTEIN 21; ARHGAP21", "OMIM:609871": "TBC1 DOMAIN FAMILY, MEMBER 2; TBC1D2", "OMIM:609872": "WAP 4-DISULFIDE CORE DOMAIN 12; WFDC12", "OMIM:609873": "INTELECTIN 1; ITLN1", "OMIM:609874": "INTELECTIN 2; ITLN2", "OMIM:609875": "ATONAL bHLH TRANSCRIPTION FACTOR 7; ATOH7", "OMIM:609876": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 6; BMND6", "OMIM:609877": "CRYSTALLIN, LAMBDA-1; CRYL1", "OMIM:609878": "MEDIATOR COMPLEX SUBUNIT 9; MED9", "OMIM:609879": "SPERMATOGENESIS-ASSOCIATED PROTEIN 4; SPATA4", "OMIM:609880": "LYSINE ACETYLTRANSFERASE 7; KAT7", "OMIM:609881": "RNA POLYMERASE II, SUBUNIT J2; POLR2J2", "OMIM:609882": "METAL-REGULATORY TRANSCRIPTION FACTOR 2; MTF2", "OMIM:609883": "MKS TRANSITION ZONE COMPLEX SUBUNIT 1; MKS1", "OMIM:609884": "TRANSMEMBRANE PROTEIN 67; TMEM67", "OMIM:609885": "ELONGATION FACTOR, RNA POLYMERASE II, 3; ELL3", "OMIM:609888": "LEPROSY, SUSCEPTIBILITY TO, 1; LPRS1", "OMIM:609889": "ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY", "OMIM:609890": "UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 4; UBR4", "OMIM:609891": "RIPPLY TRANSCRIPTIONAL REPRESSOR 2; RIPPLY2", "OMIM:609892": "RIPPLY TRANSCRIPTIONAL REPRESSOR 3; RIPPLY3", "OMIM:609893": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3", "OMIM:609894": "UNC13 HOMOLOG A; UNC13A", "OMIM:609895": "CASTOR ZINC FINGER PROTEIN 1; CASZ1", "OMIM:609896": "EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 3; EIF4E3", "OMIM:609897": "EPIDERMAL GROWTH FACTOR-LIKE 8; EGFL8", "OMIM:609898": "KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 1; KREMEN1", "OMIM:609899": "KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 2; KREMEN2", "OMIM:609900": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3D; APOBEC3D", "OMIM:609901": "ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 4B; ANKS4B", "OMIM:609903": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5; SLEB5", "OMIM:609904": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER A; HIST1H2BA", "OMIM:609905": "MYOSIN LIGHT CHAIN 9, REGULATORY; MYL9", "OMIM:609906": "EMBRYONAL FYN-ASSOCIATED SUBSTRATE; EFS", "OMIM:609907": "SEMAPHORIN 3D; SEMA3D", "OMIM:609908": "APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 4; APOBEC4", "OMIM:609910": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 91; CFAP91", "OMIM:609911": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 47; SLC25A47", "OMIM:609912": "LYSINE ACETYLTRANSFERASE 8; KAT8", "OMIM:609913": "RETINITIS PIGMENTOSA 32; RP32", "OMIM:609914": "AQUAPORIN 11; AQP11", "OMIM:609915": "CARDIOMYOPATHY, DILATED, 1Q; CMD1Q", "OMIM:609916": "5-AZACYTIDINE-INDUCED PROTEIN 2; AZI2", "OMIM:609917": "PRION PROTEIN-INTERACTING PROTEIN; PRNPIP", "OMIM:609918": "GALLBLADDER DISEASE 2; GBD2", "OMIM:609919": "GALLBLADDER DISEASE 3; GBD3", "OMIM:609920": "CADHERIN 22; CDH22", "OMIM:609921": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 10; LRP10", "OMIM:609922": "EH DOMAIN-BINDING PROTEIN 1; EHBP1", "OMIM:609925": "DIPEPTIDASE 2; DPEP2", "OMIM:609926": "DIPEPTIDASE 3; DPEP3", "OMIM:609927": "VPS37A SUBUNIT OF ESCRIT-I; VPS37A", "OMIM:609928": "MYOSIN, HEAVY CHAIN 7B, CARDIAC MUSCLE, BETA; MYH7B", "OMIM:609929": "MYOSIN, HEAVY CHAIN 15; MYH15", "OMIM:609930": "MYOSIN, LIGHT CHAIN 6B, ALKALI, SMOOTH MUSCLE AND NONMUSCLE, SLOW; MYL6B", "OMIM:609931": "MYOSIN LIGHT CHAIN 6, ALKALI, SMOOTH MUSCLE AND NONMUSCLE; MYL6", "OMIM:609932": "SPERM ACROSOME-ASSOCIATED PROTEIN 4; SPACA4", "OMIM:609933": "REGENERATING ISLET-DERIVED 3-GAMMA; REG3G", "OMIM:609934": "EARLY B-CELL FACTOR 2; EBF2", "OMIM:609935": "EARLY B-CELL FACTOR 4; EBF4", "OMIM:609936": "SPINDLIN 1; SPIN1", "OMIM:609937": "CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7; CDCA7", "OMIM:609938": "CELL ADHESION MOLECULE 2; CADM2", "OMIM:609947": "PROTEIN ONLY RNASE P CATALYTIC SUBUNIT; PRORP", "OMIM:609948": "RING FINGER PROTEIN 216; RNF216", "OMIM:609949": "COMPLEMENT COMPONENT 5a RECEPTOR 2; C5AR2", "OMIM:609950": "RIBONUCLEOPROTEIN, PTB-BINDING 1; RAVER1", "OMIM:609951": "ZINC FINGER PROTEIN 384; ZNF384", "OMIM:609953": "RIBONUCLEOPROTEIN, PTB-BINDING 2; RAVER2", "OMIM:609954": "ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4; ASPG4", "OMIM:609955": "FIBROMATOSIS, GINGIVAL, 3; GINGF3", "OMIM:609956": "RAS-ASSOCIATED PROTEIN RAB37; RAB37", "OMIM:609957": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1J; PPM1J", "OMIM:609958": "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3", "OMIM:609959": "MYELOID-ASSOCIATED DIFFERENTIATION MARKER; MYADM", "OMIM:609960": "PUMILIO RNA-BINDING FAMILY, MEMBER 3; PUM3", "OMIM:609961": "MINOR HISTOCOMPATIBILITY ANTIGEN HB-1; HMHB1", "OMIM:609962": "C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER E; CLEC4E", "OMIM:609963": "CHONDROITIN SULFATE SYNTHASE 3; CHSY3", "OMIM:609964": "C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER D; CLEC4D", "OMIM:609966": "GAMETOGENETIN; GGN", "OMIM:609967": "NIBAN APOPTOSIS REGULATOR 3; NIBAN3", "OMIM:609969": "SUPRABASIN", "OMIM:609970": "HES FAMILY bHLH TRANSCRIPTION FACTOR 2; HES2", "OMIM:609971": "HES FAMILY bHLH TRANSCRIPTION FACTOR 3; HES3", "OMIM:609972": "ACYL-CoA THIOESTERASE 2; ACOT2", "OMIM:609973": "HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 3; HCN3", "OMIM:609974": "CADHERIN 9; CDH9", "OMIM:609976": "HYPOXIA-INDUCIBLE FACTOR 3, ALPHA SUBUNIT; HIF3A", "OMIM:609977": "CELL DIVISION CYCLE-ASSOCIATED PROTEIN 8; CDCA8", "OMIM:609978": "CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2; CADPS2", "OMIM:609979": "VESTIGIAL-LIKE 2; VGLL2", "OMIM:609980": "VESTIGIAL-LIKE 3; VGLL3", "OMIM:609982": "VACUOLAR PROTEIN SORTING 4 HOMOLOG A; VPS4A", "OMIM:609983": "VACUOLAR PROTEIN SORTING 4 HOMOLOG B; VPS4B", "OMIM:609984": "ZWILCH KINETOCHORE PROTEIN; ZWILCH", "OMIM:609985": "PANIC DISORDER 3; PAND3", "OMIM:609986": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 6; CARD6", "OMIM:609987": "STIMULATED BY RETINOIC ACID 8; STRA8", "OMIM:609988": "PYROPHOSPHATASE, INORGANIC, 2; PPA2", "OMIM:609989": "METAPHYSEAL CHONDRODYSPLASIA WITH CONE-SHAPED EPIPHYSES, NORMAL HAIR, AND NORMAL HANDS", "OMIM:609990": "TRICHOSCYPHODYSPLASIA", "OMIM:609991": "FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; FNDC1", "OMIM:609992": "POP5 HOMOLOG, RIBONUCLEASE P/MRP SUBUNIT; POP5", "OMIM:609994": "MYOPIA 11, AUTOSOMAL DOMINANT; MYP11", "OMIM:609995": "MYOPIA 12, AUTOSOMAL DOMINANT; MYP12", "OMIM:609996": "COLLAGEN, TYPE XXVIII, ALPHA-1; COL28A1", "OMIM:609997": "HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 2; HINT2", "OMIM:609998": "HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 3; HINT3", "OMIM:609999": "SYNAPSE DIFFERENTIATION-INDUCED GENE 1-LIKE; SYNDIG1L", "OMIM:610000": "CENTROSOMAL PROTEIN, 55-KD; CEP55", "OMIM:610001": "ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY DEATH", "OMIM:610002": "COLLAGEN, TYPE XXI, ALPHA-1; COL21A1", "OMIM:610004": "COLLAGEN, TYPE XXV, ALPHA-1; COL25A1", "OMIM:610005": "TRAF2- AND NCK-INTERACTING KINASE; TNIK", "OMIM:610007": "LIMB REGION 1 HOMOLOG-LIKE; LMBR1L", "OMIM:610008": "ARYLSULFATASE G; ARSG", "OMIM:610009": "ARYLSULFATASE I; ARSI", "OMIM:610010": "ARYLSULFATASE J; ARSJ", "OMIM:610011": "ARYLSULFATASE K; ARSK", "OMIM:610012": "SULFATASE 1; SULF1", "OMIM:610013": "SULFATASE 2; SULF2", "OMIM:610014": "TM2 DOMAIN-CONTAINING PROTEIN 3; TM2D3", "OMIM:610016": "MICRO RNA 132; MIR132", "OMIM:610018": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 40; ARHGEF40", "OMIM:610020": "TBC1 DOMAIN FAMILY, MEMBER 10A; TBC1D10A", "OMIM:610022": "MYOSIN VC; MYO5C", "OMIM:610025": "COLLAGEN, TYPE XXIV, ALPHA-1; COL24A1", "OMIM:610026": "COLLAGEN, TYPE XXII, ALPHA-1; COL22A1", "OMIM:610027": "VPS26 RETROMER COMPLEX COMPONENT B; VPS26B", "OMIM:610028": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 14; PARP14", "OMIM:610029": "VOLTAGE-DEPENDENT ANION CHANNEL 3; VDAC3", "OMIM:610030": "VOLTAGE-DEPENDENT ANION CHANNEL 1 PSEUDOGENE 4; VDAC1P4", "OMIM:610032": "TRANSPORTIN 3; TNPO3", "OMIM:610033": "PENTA-EF-HAND DOMAIN-CONTAINING PROTEIN 1; PEF1", "OMIM:610034": "VPS33A CORE SUBUNIT OF CORVET AND HOPS COMPLEXES; VPS33A", "OMIM:610035": "VACUOLAR PROTEIN SORTING 45 HOMOLOG; VPS45", "OMIM:610036": "CLAUDIN 19; CLDN19", "OMIM:610037": "VPS37B SUBUNIT OF ESCRT-I; VPS37B", "OMIM:610038": "VPS37C SUBUNIT OF ESCRT-I; VPS37C", "OMIM:610039": "VPS37D SUBUNIT OF ESCRT-I; VPS37D", "OMIM:610040": "MYOSIN IIIB; MYO3B", "OMIM:610041": "NEDD4 FAMILY-INTERACTING PROTEIN 2; NDFIP2", "OMIM:610043": "COLLAGEN, TYPE XXIII, ALPHA-1; COL23A1", "OMIM:610044": "POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 2; KCNT2", "OMIM:610045": "ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1", "OMIM:610046": "LAEVERIN; LVRN", "OMIM:610047": "CANOPY FGF SIGNALING REGULATOR 4; CNPY4", "OMIM:610049": "SAP DOMAIN-CONTAINING RIBONUCLEOPROTEIN; SARNP", "OMIM:610050": "TRANSMEMBRANE PROTEASE, SERINE 13; TMPRSS13", "OMIM:610051": "CHARGED MULTIVESICULAR BODY PROTEIN 4A; CHMP4A", "OMIM:610052": "CHARGED MULTIVESICULAR BODY PROTEIN 3; CHMP3", "OMIM:610053": "TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6", "OMIM:610054": "MACRO H2A.1 HISTONE; MACROH2A1", "OMIM:610055": "COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 1A; CC2D1A", "OMIM:610056": "SPERM-ASSOCIATED ANTIGEN 7; SPAG7", "OMIM:610057": "TRANS-2,3-ENOYL-CoA REDUCTASE; TECR", "OMIM:610058": "TUBULIN-SPECIFIC CHAPERONE A; TBCA", "OMIM:610059": "MITOCHONDRIAL RIBOSOMAL PROTEIN L33; MRPL33", "OMIM:610060": "POLYMERASE I, RNA, SUBUNIT C; POLR1C", "OMIM:610061": "DYNEIN, AXONEMAL, HEAVY CHAIN 7; DNAH7", "OMIM:610062": "DYNEIN, AXONEMAL, LIGHT CHAIN 1; DNAL1", "OMIM:610063": "DYNEIN, AXONEMAL, HEAVY CHAIN 17; DNAH17", "OMIM:610064": "OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1", "OMIM:610065": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7; SLEB7", "OMIM:610066": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8; SLEB8", "OMIM:610067": "MYOSIN XVIIIA; MYO18A", "OMIM:610068": "SOLUTE CARRIER FAMILY 26 (ANION TRANSPORTER), MEMBER 6: SLC26A6", "OMIM:610070": "ASTER-ASSOCIATED PROTEIN", "OMIM:610071": "HYPERPARATHYROIDISM 3; HRPT3", "OMIM:610072": "ERMIN; ERMN", "OMIM:610073": "ORM1-LIKE PROTEIN 1; ORMDL1", "OMIM:610074": "ORM1-LIKE PROTEIN 2; ORMDL2", "OMIM:610075": "ORM1-LIKE PROTEIN 3; ORMDL3", "OMIM:610076": "CYCLIN-DEPENDENT KINASE 20; CDK20", "OMIM:610077": "REGULATOR OF CELL CYCLE; RGCC", "OMIM:610078": "MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 3; MORC3", "OMIM:610079": "SIALIC ACID ACETYLESTERASE; SIAE", "OMIM:610080": "TM2 DOMAIN-CONTAINING PROTEIN 1; TM2D1", "OMIM:610081": "TM2 DOMAIN-CONTAINING PROTEIN 2; TM2D2", "OMIM:610082": "MYOSIN REGULATORY LIGHT CHAIN-INTERACTING PROTEIN; MYLIP", "OMIM:610083": "TENEURIN TRANSMEMBRANE PROTEIN 3; TENM3", "OMIM:610084": "TENEURIN TRANSMEMBRANE PROTEIN 4; TENM4", "OMIM:610085": "FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A", "OMIM:610086": "PROTEIN ARGININE METHYLTRANSFERASE 8; PRMT8", "OMIM:610087": "PROTEIN ARGININE METHYLTRANSFERASE 7; PRMT7", "OMIM:610088": "OLFACTOMEDIN-LIKE 3; OLFML3", "OMIM:610089": "RAD50-INTERACTING PROTEIN 1; RINT1", "OMIM:610091": "WD REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; WSB1", "OMIM:610094": "DEF6 GUANINE NUCLEOTIDE EXCHANGE FACTOR; DEF6", "OMIM:610095": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 3; KIR3DL3", "OMIM:610096": "T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 4; TIMD4", "OMIM:610097": "OUTER DENSE FIBER OF SPERM TAILS 4; ODF4", "OMIM:610098": "MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 9; MCM9", "OMIM:610101": "CUTC COPPER TRANSPORTER; CUTC", "OMIM:610103": "S100 CALCIUM-BINDING PROTEIN, ZETA; S100Z", "OMIM:610104": "MICRO RNA 125B1; MIR125B1", "OMIM:610105": "MICRO RNA 125B2; MIR125B2", "OMIM:610106": "DREBRIN-LIKE; DBNL", "OMIM:610107": "O-SIALOGLYCOPROTEIN ENDOPEPTIDASE; OSGEP", "OMIM:610108": "ANOCTAMIN 1, CALCIUM-ACTIVATED CHLORIDE CHANNEL; ANO1", "OMIM:610109": "ANOCTAMIN 2; ANO2", "OMIM:610110": "ANOCTAMIN 3; ANO3", "OMIM:610111": "ANOCTAMIN 4; ANO4", "OMIM:610112": "C-MAF-INDUCING PROTEIN; CMIP", "OMIM:610113": "ADAMTS-LIKE 4; ADAMTSL4", "OMIM:610114": "STATURE QUANTITATIVE TRAIT LOCUS 8; STQTL8", "OMIM:610115": "NDC1 TRANSMEMBRANE NUCLEOPORIN; NDC1", "OMIM:610116": "PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 14; P2RY14", "OMIM:610117": "SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 11; SLC26A11", "OMIM:610118": "G PROTEIN-COUPLED RECEPTOR 33; GPR33", "OMIM:610119": "TENEURIN TRANSMEMBRANE PROTEIN 2; TENM2", "OMIM:610120": "TETRASPANIN 33; TSPAN33", "OMIM:610121": "5-HYDROXYTRYPTAMINE RECEPTOR 3C; HTR3C", "OMIM:610122": "5-HYDROXYTRYPTAMINE RECEPTOR 3D; HTR3D", "OMIM:610123": "5-HYDROXYTRYPTAMINE RECEPTOR 3E; HTR3E", "OMIM:610124": "CARBOHYDRATE SULFOTRANSFERASE 13; CHST13", "OMIM:610128": "CARBOHYDRATE SULFOTRANSFERASE 11; CHST11", "OMIM:610129": "CARBOHYDRATE SULFOTRANSFERASE 12; CHST12", "OMIM:610130": "SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 1; SLC26A1", "OMIM:610132": "VANGL PLANAR CELL POLARITY PROTEIN 1; VANGL1", "OMIM:610133": "ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 3; ST6GALNAC3", "OMIM:610134": "ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 5; ST6GALNAC5", "OMIM:610135": "ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 6; ST6GALNAC6", "OMIM:610136": "DEVRIENDT SYNDROME", "OMIM:610137": "ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 2; ST6GALNAC2", "OMIM:610138": "ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GALNAC1", "OMIM:610139": "ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 6; ST8SIA6", "OMIM:610141": "QT INTERVAL, VARIATION IN", "OMIM:610142": "CENTROSOMAL PROTEIN, 290-KD; CEP290", "OMIM:610144": "TBC1 DOMAIN FAMILY, MEMBER 3B; TBC1D3B", "OMIM:610145": "ENDOTHELIN-CONVERTING ENZYME 2; ECE2", "OMIM:610146": "INSULIN-LIKE GROWTH FACTOR II, ANTISENSE; IGF2AS", "OMIM:610147": "G PROTEIN-COUPLED BILE ACID RECEPTOR 1; GPBAR1", "OMIM:610148": "BBS10 GENE; BBS10", "OMIM:610149": "MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7", "OMIM:610150": "CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5; CCT5", "OMIM:610151": "METHIONYL AMINOPEPTIDASE 1; METAP1", "OMIM:610152": "CENTROMERIC PROTEIN M; CENPM", "OMIM:610155": "TYPE 1 DIABETES MELLITUS 19; T1D19", "OMIM:610157": "HEAT-SHOCK RNA 1", "OMIM:610159": "ZINC FINGER PROTEIN 366; ZNF366", "OMIM:610160": "ZINC FINGER PROTEIN 367; ZNF367", "OMIM:610161": "TRANSCRIPTION FACTOR AP2-DELTA; TFAP2D", "OMIM:610162": "COILED-COIL DOMAIN-CONTAINING PROTEIN 28B; CCDC28B", "OMIM:610164": "MICRO RNA 134; MIRN134", "OMIM:610165": "GLYCOSYLTRANSFERASE-LIKE DOMAIN-CONTAINING PROTEIN 1; GTDC1", "OMIM:610166": "IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 1; IQSEC1", "OMIM:610167": "PHOSPHOHISTIDINE PHOSPHATASE 1; PHPT1", "OMIM:610169": "INO80 COMPLEX, ATPase SUBUNIT; INO80", "OMIM:610170": "KYPHOSCOLIOSIS 1; KYPSC1", "OMIM:610171": "CALMODULIN-LIKE 6; CALML6", "OMIM:610172": "SPERM FLAGELLAR PROTEIN 2; SPEF2", "OMIM:610173": "MICRO RNA 10A; MIR10A", "OMIM:610174": "UBIQUITIN DOMAIN-CONTAINING PROTEIN 2; UBTD2", "OMIM:610175": "MICRO RNA 130A; MIR130A", "OMIM:610176": "SECRETOGLOBIN, FAMILY 1C, MEMBER 1; SCGB1C1", "OMIM:610177": "APOPTOSIS-ENHANCING NUCLEASE; AEN", "OMIM:610178": "KIAA0586 GENE; KIAA0586", "OMIM:610179": "PHOSPHOLIPASE B1; PLB1", "OMIM:610180": "OSTEOCLAST-STIMULATING FACTOR 1; OSTF1", "OMIM:610182": "PALMDELPHIN; PALMD", "OMIM:610183": "ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 6; ZFAND6", "OMIM:610184": "MONOACYLGLYCEROL O-ACYLTRANSFERASE 3; MOGAT3", "OMIM:610186": "UBIQUITIN-SPECIFIC PEPTIDASE 17-LIKE FAMILY MEMBER 2; USP17L2", "OMIM:610190": "CARBOHYDRATE SULFOTRANSFERASE 8; CHST8", "OMIM:610191": "CARBOHYDRATE SULFOTRANSFERASE 9; CHST9", "OMIM:610192": "GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3", "OMIM:610194": "BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 2; B3GALNT2", "OMIM:610195": "PTOV1 EXTENDED AT-HOOK-CONTAINING ADAPTOR PROTEIN; PTOV1", "OMIM:610196": "ELMO/CED12 DOMAIN-CONTAINING PROTEIN 2; ELMOD2", "OMIM:610197": "MEDIATOR COMPLEX SUBUNIT 25; MED25", "OMIM:610200": "MITOCHONDRIAL RIBOSOMAL PROTEIN L13; MRPL13", "OMIM:610201": "CENTROSOMAL PROTEIN, 162-KD; CEP162", "OMIM:610203": "CYSTEINE-RICH PAK1 INHIBITOR; CRIPAK", "OMIM:610206": "SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11; SLC4A11", "OMIM:610207": "SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 9; SLC4A9", "OMIM:610210": "MAF1 HOMOLOG, NEGATIVE REGULATOR OF RNA POLYMERASE III; MAF1", "OMIM:610211": "SRA STEM LOOP-INTERACTING RNA-BINDING PROTEIN; SLIRP", "OMIM:610213": "ANEURYSM, INTRACRANIAL BERRY, 4; ANIB4", "OMIM:610214": "ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 3; EDEM3", "OMIM:610215": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 25; ARHGEF25", "OMIM:610216": "ANOCTAMIN 8; ANO8", "OMIM:610218": "SAP30-BINDING PROTEIN; SAP30BP", "OMIM:610219": "PEJVAKIN; PJVK", "OMIM:610221": "AKT1 SUBSTRATE 1, PROLINE-RICH; AKT1S1", "OMIM:610222": "RAS AND RAB INTERACTOR 2; RIN2", "OMIM:610223": "RAS AND RAB INTERACTOR 3; RIN3", "OMIM:610224": "SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN 1; SOHLH1", "OMIM:610225": "RIBOSOMAL PROTEIN S19 BINDING PROTEIN 1; RPS19BP1", "OMIM:610226": "ZINC FINGER PROTEIN 750; ZNF750", "OMIM:610228": "CALPAIN 13; CAPN13", "OMIM:610229": "CALPAIN 14; CAPN14", "OMIM:610230": "tRNA 5-METHYLAMINOMETHYL-2-THIOURIDYLATE METHYLTRANSFERASE; TRMU", "OMIM:610231": "POLYCOMB GROUP RING FINGER PROTEIN 1; PCGF1", "OMIM:610232": "ATPase 13A3; ATP13A3", "OMIM:610234": "SYNPOLYDACTYLY 3; SPD3", "OMIM:610235": "MITOCHONDRIAL FISSION PROCESS 1; MTFP1", "OMIM:610236": "LUNAPARK; LNPK", "OMIM:610237": "MEDIATOR COMPLEX SUBUNIT 30; MED30", "OMIM:610238": "SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 11; SLC5A11", "OMIM:610239": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4", "OMIM:610240": "LHFPL TETRASPAN SUBFAMILY, MEMBER 4; LHFPL4", "OMIM:610241": "RING FINGER PROTEIN 32; RNF32", "OMIM:610242": "CHROMOSOME 7 OPEN READING FRAME 13; C7ORF13", "OMIM:610243": "ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27", "OMIM:610249": "PROTEIN O-FUCOSYLTRANSFERASE 2; POFUT2", "OMIM:610252": "MICRO RNA 1-2; MIR1-2", "OMIM:610254": "MICRO RNA 133A1; MIR133A1", "OMIM:610255": "MICRO RNA 133A2; MIR133A2", "OMIM:610257": "SEC31 HOMOLOG A, COPII COAT COMPLEX COMPONENT; SEC31A", "OMIM:610258": "SEC31 HOMOLOG B, COPII COAT COMPLEX COMPONENT; SEC31B", "OMIM:610259": "LONG INTERGENIC NONCODING RNA 163; LINC00163", "OMIM:610260": "PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 2; IHPS2", "OMIM:610261": "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5", "OMIM:610262": "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6", "OMIM:610263": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 13; DNAJB13", "OMIM:610264": "TESTIS-PROSTATE-PLACENTA-EXPRESSED PROTEIN; TEPP", "OMIM:610266": "TAO KINASE 1; TAOK1", "OMIM:610267": "METHIONINE AMINOPEPTIDASE 1D; METAP1D", "OMIM:610268": "MONOACYLGLYCEROL O-ACYLTRANSFERASE 1; MOGAT1", "OMIM:610270": "MONOACYLGLYCEROL O-ACYLTRANSFERASE 2; MOGAT2", "OMIM:610271": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS S PROTEIN; PIGS", "OMIM:610272": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS T PROTEIN; PIGT", "OMIM:610273": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS M PROTEIN; PIGM", "OMIM:610274": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS V PROTEIN; PIGV", "OMIM:610275": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS W PROTEIN; PIGW", "OMIM:610276": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS X PROTEIN; PIGX", "OMIM:610277": "ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 1; ORAI1", "OMIM:610278": "PLATELET ENDOTHELIAL AGGREGATION RECEPTOR 1", "OMIM:610280": "OSTEOCRIN; OSTN", "OMIM:610281": "ZINC FINGER PROTEIN 62; ZFP62", "OMIM:610284": "LIPOYLTRANSFERASE 1; LIPT1", "OMIM:610285": "DOWNSTREAM OF TYROSINE KINASE 7; DOK7", "OMIM:610286": "LEUCINE CARBOXYL METHYLTRANSFERASE 1; LCMT1", "OMIM:610287": "F-BOX AND LEUCINE-RICH REPEAT PROTEIN 15; FBXL15", "OMIM:610288": "GOLGIN A6 FAMILY, MEMBER A; GOLGA6A", "OMIM:610289": "3-OXOACID CoA TRANSFERASE 2; OXCT2", "OMIM:610290": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 12; GALNT12", "OMIM:610291": "SYNAPTIC VESICLE GLYCOPROTEIN 2C; SV2C", "OMIM:610292": "B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1", "OMIM:610294": "INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2", "OMIM:610295": "INTELLIGENCE QUANTITATIVE TRAIT LOCUS 3", "OMIM:610296": "NUDC DOMAIN-CONTAINING PROTEIN 3; NUDCD3", "OMIM:610298": "PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 2; PHLDB2", "OMIM:610299": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 17; SLC6A17", "OMIM:610300": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 18; SLC6A18", "OMIM:610301": "MACOILIN 1; MACO1", "OMIM:610302": "ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 2; EDEM2", "OMIM:610303": "MAF bZIP TRANSCRIPTION FACTOR A; MAFA", "OMIM:610304": "DER1-LIKE DOMAIN FAMILY, MEMBER 2; DERL2", "OMIM:610305": "DER1-LIKE DOMAIN FAMILY, MEMBER 3; DERL3", "OMIM:610306": "NEPHRONECTIN; NPNT", "OMIM:610307": "CERAMIDE KINASE; CERK", "OMIM:610308": "BETA-3-GLUCOSYLTRANSFERASE; B3GLCT", "OMIM:610309": "UBIQUITIN-CONJUGATING ENZYME E2 S; UBE2S", "OMIM:610310": "MGAT4 FAMILY, MEMBER D; MGAT4D", "OMIM:610311": "MEDIATOR COMPLEX SUBUNIT 28; MED28", "OMIM:610312": "PIWI-LIKE RNA-MEDIATED GENE SILENCING 2; PIWIL2", "OMIM:610314": "PIWI-LIKE RNA-MEDIATED GENE SILENCING 3: PIWIL3", "OMIM:610315": "PIWI-LIKE RNA-MEDIATED GENE SILENCING 4; PIWIL4", "OMIM:610316": "POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE 1; PNPT1", "OMIM:610317": "CORDON-BLEU WH2 REPEAT PROTEIN; COBL", "OMIM:610318": "COBL-LIKE PROTEIN 1: COBLL1", "OMIM:610319": "RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA", "OMIM:610320": "MYOPIA 14; MYP14", "OMIM:610321": "PROSTATE CANCER, HEREDITARY, 7; HPC7", "OMIM:610322": "TRANSCRIPTIONAL REGULATING FACTOR 1; TRERF1", "OMIM:610323": "METADHERIN; MTDH", "OMIM:610324": "3-OXOACYL-ACP SYNTHASE, MITOCHONDRIAL; OXSM", "OMIM:610325": "NUCLEAR DISTRIBUTION C, DYNEIN COMPLEX REGULATOR; NUDC", "OMIM:610326": "RIBONUCLEASE H2, SUBUNIT B; RNASEH2B", "OMIM:610327": "RUN AND FYVE DOMAINS-CONTAINING PROTEIN 1; RUFY1", "OMIM:610328": "RUN AND FYVE DOMAINS-CONTAINING PROTEIN 2; RUFY2", "OMIM:610330": "RIBONUCLEASE H2, SUBUNIT C; RNASEH2C", "OMIM:610331": "HES FAMILY bHLH TRANSCRIPTION FACTOR 6; HES6", "OMIM:610334": "TRANSMEMBRANE PROTEIN 176A; TMEM176A", "OMIM:610335": "PHD FINGER PROTEIN 20; PHF20", "OMIM:610336": "C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4C; C2CD4C", "OMIM:610337": "UPREGULATOR OF CELL PROLIFERATION; URGCP", "OMIM:610339": "PROLYL 3-HYDROXYLASE 1; P3H1", "OMIM:610340": "ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4B; EPB41L4B", "OMIM:610341": "PROLYL 3-HYDROXYLASE 2; P3H2", "OMIM:610342": "PROLYL 3-HYDROXYLASE 3; P3H3", "OMIM:610343": "C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4A; C2CD4A", "OMIM:610344": "C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4B; C2CD4B", "OMIM:610345": "ACYLGLYCEROL KINASE; AGK", "OMIM:610346": "CELL DIVISION CYCLE 37-LIKE 1; CDC37L1", "OMIM:610347": "REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING PROTEIN 1A; RPRD1A", "OMIM:610348": "SMC5-SMC6 COMPLEX LOCALIZATION FACTOR 2; SLF2", "OMIM:610349": "MEF2-ACTIVATING SAP TRANSCRIPTIONAL REGULATOR; MAMSTR", "OMIM:610350": "LINES HOMOLOG 1; LINS1", "OMIM:610351": "PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 3, ALPHA; PPP4R3A", "OMIM:610352": "PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 3, BETA; PPP4R3B", "OMIM:610354": "RIC1 HOMOLOG, RAB6A GEF COMPLEX PARTNER 1; RIC1", "OMIM:610355": "PARTNER AND LOCALIZER OF BRCA2; PALB2", "OMIM:610358": "SIGNAL PEPTIDASE COMPLEX, SUBUNIT 1; SPCS1", "OMIM:610360": "MUCIN 20, CELL SURFACE-ASSOCIATED; MUC20", "OMIM:610361": "OROFACIAL CLEFT 9; OFC9", "OMIM:610362": "RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX 2; RAX2", "OMIM:610363": "PEPTIDYLARGININE DEIMINASE, TYPE VI; PADI6", "OMIM:610364": "TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 1; TMBIM1", "OMIM:610365": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 1; C1QTNF1", "OMIM:610366": "ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-1 SUBUNIT; AP3M1", "OMIM:610367": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 11; SLC2A11", "OMIM:610368": "LEUCINE-RICH REPEATS- AND CALPONIN HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; LRCH1", "OMIM:610369": "HEAT-SHOCK 70-KD PROTEIN 14; HSPA14", "OMIM:610371": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 7; SLC2A7", "OMIM:610372": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 12; SLC2A12", "OMIM:610373": "DExD-BOX HELICASE 50; DDX50", "OMIM:610375": "CAPRIN FAMILY, MEMBER 2; CAPRIN2", "OMIM:610376": "ATYPICAL CHEMOKINE RECEPTOR 3; ACKR3", "OMIM:610378": "GLIS FAMILY ZINC FINGER PROTEIN 1; GLIS1", "OMIM:610379": "WEST NILE VIRUS, SUSCEPTIBILITY TO", "OMIM:610383": "RAS ASSOCIATION DOMAIN FAMILY, MEMBER 9; RASSF9", "OMIM:610384": "HECT, C2, AND WW DOMAINS-CONTAINING E3 UBIQUITIN-PROTEIN LIGASE 1; HECW1", "OMIM:610385": "TRANSMEMBRANE PROTEIN 176B; TMEM176B", "OMIM:610386": "BTB/POZ DOMAIN-CONTAINING PROTEIN 7; BTBD7", "OMIM:610387": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL IRON CARRIER), MEMBER 37; SLC25A37", "OMIM:610388": "RRAD- AND GEM-LIKE GTPase 1; REM1", "OMIM:610389": "LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 2; LAMTOR2", "OMIM:610390": "MACROPHAGE EXPRESSED GENE 1; MPEG1", "OMIM:610391": "PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 3; PLPPR3", "OMIM:610392": "MYC-BINDING PROTEIN 2; MYCBP2", "OMIM:610393": "GON4-LIKE PROTEIN; GON4L", "OMIM:610394": "GLIPR1-LIKE PROTEIN 2; GLIPR1L2", "OMIM:610395": "GLIPR1-LIKE PROTEIN 1; GLIPR1L1", "OMIM:610396": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6A; TRAPPC6A", "OMIM:610397": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6B; TRAPPC6B", "OMIM:610398": "SAP30-LIKE PROTEIN; SAP30L", "OMIM:610399": "TRANSMEMBRANE PROTEASE, SERINE 11E; TMPRSS11E", "OMIM:610400": "MONO-ADP RIBOSYLHYDROLASE 1; MACROD1", "OMIM:610401": "NETRIN 4; NTN4", "OMIM:610403": "CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED 2; CAND2", "OMIM:610404": "RECQ-MEDIATED GENOME INSTABILITY 1; RMI1", "OMIM:610405": "CHONDROITIN POLYMERIZING FACTOR; CHPF", "OMIM:610406": "tRNA ARGININE (ANTICODON TCT) 2-1; TRR-TCT2-1", "OMIM:610407": "tRNA GLYCINE (ANTICODON GCC) 2-6; TRG-GCC2-6", "OMIM:610408": "SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 3; SLC15A3", "OMIM:610409": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 8; SLC16A8", "OMIM:610410": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 1; DHRS1", "OMIM:610411": "IMPORTIN 13; IPO13", "OMIM:610412": "SERINE PALMITOYLTRANSFERASE, SMALL SUBUNIT, B; SPTSSB", "OMIM:610413": "INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN-LIKE 1; IGFBPL1", "OMIM:610414": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15", "OMIM:610415": "SYNTAXIN-BINDING PROTEIN 4; STXBP4", "OMIM:610416": "SCAN DOMAIN-CONTAINING 1; SCAND1", "OMIM:610417": "SCAN DOMAIN-CONTAINING 2; SCAND2", "OMIM:610418": "WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 2; WDFY2", "OMIM:610421": "KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 3; KHDRBS3", "OMIM:610423": "PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 2; PACS2", "OMIM:610424": "HEPATITIS B VIRUS, SUSCEPTIBILITY TO", "OMIM:610428": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX18; COX18", "OMIM:610429": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX19; COX19", "OMIM:610430": "MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2; WM2", "OMIM:610431": "RING FINGER PROTEIN 167; RNF167", "OMIM:610432": "RING FINGER PROTEIN 125; RNF125", "OMIM:610433": "LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5B; LY6G5B", "OMIM:610434": "LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5C; LY6G5C", "OMIM:610435": "LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6C; LY6G6C", "OMIM:610436": "ROTATIN; RTTN", "OMIM:610437": "LYMPHOCYTE ANTIGEN 6 FAMILY, MEMBER G6E, PSEUDOGENE; LY6G6E", "OMIM:610438": "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; RLS3", "OMIM:610439": "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4; RLS4", "OMIM:610440": "SMALL G PROTEIN SIGNALING MODULATOR 3; SGSM3", "OMIM:610446": "BURULI ULCER, SUSCEPTIBILITY TO", "OMIM:610447": "SHADOW OF PRION PROTEIN; SPRN", "OMIM:610449": "MITOCHONDRIAL CARRIER HOMOLOG 1; MTCH1", "OMIM:610450": "LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; LYPD1", "OMIM:610451": "TUBULIN-SPECIFIC CHAPERONE E-LIKE; TBCEL", "OMIM:610452": "MUTAGEN SENSITIVITY", "OMIM:610453": "HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT", "OMIM:610454": "LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 2; LZTS2", "OMIM:610456": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9; SAMD9", "OMIM:610457": "SPHINGOMYELIN PHOSPHODIESTERASE 4, NEUTRAL MEMBRANE; SMPD4", "OMIM:610458": "LEUCINE ZIPPER AND CTNNBIP1 DOMAINS-CONTAINING PROTEIN; LZIC", "OMIM:610459": "PROLINE-RICH PROTEIN 13; PRR13", "OMIM:610461": "RETICULON 4 RECEPTOR-LIKE 1; RTN4RL1", "OMIM:610462": "RETICULON 4 RECEPTOR-LIKE 2; RTN4RL2", "OMIM:610463": "NUS1 DEHYDRODOLICHYL DIPHOSPHATE SYNTHASE SUBUNIT; NUS1", "OMIM:610464": "G PROTEIN-COUPLED RECEPTOR 156; GPR156", "OMIM:610465": "ACYL-CoA SYNTHETASE FAMILY, MEMBER 2; ACSF2", "OMIM:610466": "LIMB AND CNS EXPRESSED 1; LIX1", "OMIM:610467": "3-HYDROXYACYL-CoA DEHYDRATASE 1; HACD1", "OMIM:610468": "INTERFERON-INDUCED PROTEIN 44; IFI44", "OMIM:610469": "ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-2 SUBUNIT; AP3M2", "OMIM:610470": "TRANSFER RNA PHOSPHOTRANSFERASE 1; TRPT1", "OMIM:610471": "VASOHIBIN 2; VASH2", "OMIM:610472": "LPC ACYLTRANSFERASE 1; LPCAT1", "OMIM:610473": "LYSOPHOSPHATIDYLGLYCEROL ACYLTRANSFERASE 1; LPGAT1", "OMIM:610477": "TRANSMEMBRANE PROTEASE, SERINE 9; TMPRSS9", "OMIM:610479": "SERUM RESPONSE FACTOR BINDING PROTEIN 1; SRFBP1", "OMIM:610480": "LEM DOMAIN-CONTAINING PROTEIN 1; LEMD1", "OMIM:610481": "SRC HOMOLOGY 2 DOMAIN-CONTAINING TRANSFORMING PROTEIN D; SHD", "OMIM:610482": "SH2 DOMAIN-CONTAINING PROTEIN E; SHE", "OMIM:610483": "AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS", "OMIM:610484": "PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN-INTERACTING PROTEIN 1", "OMIM:610485": "LONG INTERGENIC NONCODING RNA 312; LINC00312", "OMIM:610486": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 4; LRRC4", "OMIM:610487": "KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 2; KHDRBS2", "OMIM:610488": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 9; TTC9", "OMIM:610490": "PURPLE ACID PHOSPHATASE, LONG FORM", "OMIM:610491": "SLAIN MOTIF FAMILY, MEMBER 1; SLAIN1", "OMIM:610492": "SLAIN MOTIF FAMILY, MEMBER 2; SLAIN2", "OMIM:610493": "DIX DOMAIN-CONTAINING PROTEIN 1; DIXDC1", "OMIM:610494": "DDB1- AND CUL4-ASSOCIATED FACTOR 6; DCAF6", "OMIM:610495": "INTERMEDIATE FILAMENT FAMILY ORPHAN 1; IFFO1", "OMIM:610496": "RHO GTPase-ACTIVATING PROTEIN 29; ARHGAP29", "OMIM:610497": "BRISC AND BRCA1 A COMPLEX MEMBER 2; BABAM2", "OMIM:610499": "RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; RAPGEF6", "OMIM:610500": "ANKYRIN REPEAT AND KH DOMAIN-CONTAINING PROTEIN 1; ANKHD1", "OMIM:610501": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 1; NBPF1", "OMIM:610502": "RETICULON 4-INTERACTING PROTEIN 1; RTN4IP1", "OMIM:610503": "CELL DEATH-INDUCING p53 TARGET 1; CDIP1", "OMIM:610506": "PAF1 HOMOLOG, PAF1/RNA POLYMERASE II COMPLEX COMPONENT; PAF1", "OMIM:610507": "LEO1 HOMOLOG, PAF1/RNA POLYMERASE II COMPLEX COMPONENT; LEO1", "OMIM:610509": "RIC3 ACETYLCHOLINE RECEPTOR CHAPERONE; RIC3", "OMIM:610510": "AURORA BOREALIS; BORA", "OMIM:610511": "SEC23 HOMOLOG A, COAT COMPLEX II COMPONENT; SEC23A", "OMIM:610512": "SEC23 HOMOLOG B, COAT COMPLEX II COMPONENT; SEC23B", "OMIM:610513": "ATPase 13A2; ATP13A2", "OMIM:610514": "JADE FAMILY PHD FINGER 1; JADE1", "OMIM:610515": "JADE FAMILY PHD FINGER 2; JADE2", "OMIM:610516": "GLYCERATE KINASE; GLYCTK", "OMIM:610517": "CONTACTIN-ASSOCIATED PROTEIN-LIKE 3; CNTNAP3", "OMIM:610518": "CONTACTIN-ASSOCIATED PROTEIN-LIKE 4; CNTNAP4", "OMIM:610519": "CONTACTIN-ASSOCIATED PROTEIN-LIKE 5; CNTNAP5", "OMIM:610520": "CD300 ANTIGEN-LIKE FAMILY, MEMBER G; CD300LG", "OMIM:610521": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 12; KCTD12", "OMIM:610522": "COORDINATED EXPRESSION TO IRXA2", "OMIM:610523": "CENTROSOMAL PROTEIN, 41-KD; CEP41", "OMIM:610524": "ENDOGENOUS RETROVIRUS GROUP FRD, MEMBER 1; ERVFRD1", "OMIM:610525": "5-PRIME-NUCLEOTIDASE, CYTOSOLIC, IA; NT5C1A", "OMIM:610526": "5-PRIME-NUCLEOTIDASE, CYTOSOLIC, IB; NT5C1B", "OMIM:610527": "THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 1; TMX1", "OMIM:610528": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 8; CHD8", "OMIM:610529": "TUMOR SUPPRESSOR CANDIDATE 1; TUSC1", "OMIM:610530": "TRIPARTITE MOTIF-CONTAINING PROTEIN 41; TRIM41", "OMIM:610531": "HYCCIN, PI4KA LIPID KINASE COMPLEX, SUBUNIT 1; HYCC1", "OMIM:610533": "WW AND C2 DOMAINS-CONTAINING PROTEIN 1; WWC1", "OMIM:610534": "DECAPPING ENZYME, SCAVENGER; DCPS", "OMIM:610537": "DIPEPTIDYL PEPTIDASE VII; DPP7", "OMIM:610538": "UBIQUITIN-CONJUGATING ENZYME E2 T; UBE2T", "OMIM:610540": "GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT 1; GNASAS1", "OMIM:610541": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3B; PPP1R3B", "OMIM:610544": "IGF-LIKE FAMILY MEMBER 1; IGFL1", "OMIM:610545": "IGF-LIKE FAMILY MEMBER 2; IGFL2", "OMIM:610546": "IGF-LIKE FAMILY MEMBER 3; IGFL3", "OMIM:610547": "IGF-LIKE FAMILY MEMBER 4; IGFL4", "OMIM:610548": "AQUARIUS INTRON-BINDING SPLICEOSOMAL FACTOR; AQR", "OMIM:610549": "DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS", "OMIM:610550": "METHIONINE ADENOSYLTRANSFERASE I, ALPHA; MAT1A", "OMIM:610552": "UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 5; UBA5", "OMIM:610553": "UBIQUITIN-FOLD MODIFIER 1; UFM1", "OMIM:610554": "UBIQUITIN-FOLD MODIFIER-CONJUGATING ENZYME 1; UFC1", "OMIM:610555": "CORE 1 SYNTHASE, GLYCOPROTEIN-N-ACETYLGALACTOSAMINE 3-BETA-GALACTOSYLTRANSFERASE, 1; C1GALT1", "OMIM:610556": "HIGHLY ACCELERATED REGION GENE 1A; HAR1A", "OMIM:610557": "HIGHLY ACCELERATED REGION GENE 1B; HAR1B", "OMIM:610558": "MITOGEN-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; MAPKAP1", "OMIM:610559": "RAS ASSOCIATION DOMAIN FAMILY, MEMBER 4; RASSF4", "OMIM:610560": "PROTEASE, SERINE, 36; PRSS36", "OMIM:610561": "PROTEASE, SERINE, 53; PRSS53", "OMIM:610562": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12A; ZC3H12A", "OMIM:610563": "KARYOPHERIN ALPHA-6; KPNA6", "OMIM:610564": "PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2", "OMIM:610565": "DYNEIN, AXONEMAL, LIGHT CHAIN 4; DNAL4", "OMIM:610566": "MICRO RNA 146A; MIR146A", "OMIM:610567": "MICRO RNA 146B; MIR146B", "OMIM:610568": "ZINC FINGER PROTEIN 687; ZNF687", "OMIM:610569": "UBIQUITIN-SPECIFIC PROTEASE 24; USP24", "OMIM:610570": "UBIQUITIN-SPECIFIC PROTEASE 40; USP40", "OMIM:610571": "FK506-BINDING PROTEIN 11; FKBP11", "OMIM:610572": "MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2", "OMIM:610573": "R-SPONDIN 4; RSPO4", "OMIM:610574": "R-SPONDIN 3; RSPO3", "OMIM:610575": "R-SPONDIN 2; RSPO2", "OMIM:610576": "RHO GTPase-ACTIVATING PROTEIN 9; ARHGAP9", "OMIM:610577": "RHO GTPase-ACTIVATING PROTEIN 12; ARHGAP12", "OMIM:610578": "RHO GTPase-ACTIVATING PROTEIN 15; ARHGAP15", "OMIM:610579": "RCSD DOMAIN-CONTAINING PROTEIN 1; RCSD1", "OMIM:610580": "ONCOGENE PIM3; PIM3", "OMIM:610581": "COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2, INTRONIC TRANSCRIPT 1; COPG2IT1", "OMIM:610583": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 6; ANKRD6", "OMIM:610584": "TRIPARTITE MOTIF-CONTAINING PROTEIN 67; TRIM67", "OMIM:610585": "RHO GTPase-ACTIVATING PROTEIN 22; ARHGAP22", "OMIM:610586": "RHO GTPase-ACTIVATING PROTEIN 24; ARHGAP24", "OMIM:610587": "RHO GTPase-ACTIVATING PROTEIN 25; ARHGAP25", "OMIM:610588": "DENDRIN; DDN", "OMIM:610589": "RHO GTPase-ACTIVATING PROTEIN 11A; ARHGAP11A", "OMIM:610590": "RHO GTPase-ACTIVATING PROTEIN 23; ARHGAP23", "OMIM:610591": "RHO GTPase-ACTIVATING PROTEIN 27; ARHGAP27", "OMIM:610592": "RHO GTPase-ACTIVATING PROTEIN 28; ARHGAP28", "OMIM:610593": "MAP6 DOMAIN-CONTAINING PROTEIN 1; MAP6D1", "OMIM:610594": "FOLLICULIN-INTERACTING PROTEIN 1; FNIP1", "OMIM:610595": "FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE 1; FLAD1", "OMIM:610596": "BLOCK OF PROLIFERATION 1; BOP1", "OMIM:610597": "GLUTAMATE-RICH WD REPEAT-CONTAINING PROTEIN 1; GRWD1", "OMIM:610598": "PHOTORECEPTOR DISC COMPONENT; PRCD", "OMIM:610601": "KALLIKREIN-RELATED PEPTIDASE 15; KLK15", "OMIM:610602": "AlkB HOMOLOG 2, ALPHA-KETOGLUTARATE-DEPENDENT DIOXYGENASE; ALKBH2", "OMIM:610603": "AlkB HOMOLOG 3, ALPHA-KETOGLUTARATE-DEPENDENT DIOXYGENASE; ALKBH3", "OMIM:610604": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, PSEUDOGENE 1; KIR3DP1", "OMIM:610605": "CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 2; CPEB2", "OMIM:610606": "CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 3; CPEB3", "OMIM:610607": "CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4; CPEB4", "OMIM:610608": "GINS COMPLEX SUBUNIT 1; GINS1", "OMIM:610609": "GINS COMPLEX SUBUNIT 2; GINS2", "OMIM:610610": "GINS COMPLEX SUBUNIT 3; GINS3", "OMIM:610611": "GINS COMPLEX SUBUNIT 4; GINS4", "OMIM:610613": "CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1", "OMIM:610614": "TRANSFORMING GROWTH FACTOR-BETA REGULATOR 1; TBRG1", "OMIM:610615": "RAB, MEMBER RAS ONCOGENE FAMILY-LIKE 6; RABL6", "OMIM:610616": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 12; ANKRD12", "OMIM:610617": "DENTICLELESS E3 UBIQUITIN PROTEIN LIGASE HOMOLOG; DTL", "OMIM:610619": "COAGULATION FACTOR XII; F12", "OMIM:610620": "ADP-RIBOSYLHYDROLASE-LIKE 1; ADPRHL1", "OMIM:610621": "INTURNED PLANAR CELL POLARITY PROTEIN; INTU", "OMIM:610622": "FUZZY PLANAR CELL POLARITY PROTEIN; FUZ", "OMIM:610624": "ADP-RIBOSYLSERINE HYDROLASE; ADPRS", "OMIM:610625": "ADP-RIBOSYLTRANSFERASE 5; ART5", "OMIM:610626": "PHOSPHOLIPID PHOSPHATASE 5; PLPP5", "OMIM:610627": "ALPHA-2-MACROGLOBULIN-LIKE 1; A2ML1", "OMIM:610630": "PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 20; PTPN20", "OMIM:610632": "MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 2; MICU2", "OMIM:610633": "MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 3; MICU3", "OMIM:610635": "COLLAGEN TRIPLE-HELIX REPEAT-CONTAINING PROTEIN 1; CTHRC1", "OMIM:610636": "MICRO RNA 27B; MIR27B", "OMIM:610637": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 5; MARCHF5", "OMIM:610638": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 5; IGSF5", "OMIM:610639": "GRID2-INTERACTING PROTEIN 1; GRID2IP1", "OMIM:610640": "YTH N6-METHYLADENOSINE RNA-BINDING PROTEIN 2; YTHDF2", "OMIM:610641": "TERMINAL URIDYLYL TRANSFERASE 1, U6 snRNA-SPECIFIC; TUT1", "OMIM:610642": "ENDOPLASMIC RETICULUM PROTEIN, 27-KD; ERP27", "OMIM:610643": "CELL PROLIFERATION-REGULATING INHIBITOR OF PROTEIN PHOSPHATASE 2A; CIP2A", "OMIM:610645": "CALCIUM- AND INTEGRIN-BINDING PROTEIN 3; CIB3", "OMIM:610646": "CALCIUM- AND INTEGRIN-BINDING PROTEIN 4; CIB4", "OMIM:610647": "N-ACETYLTRANSFERASE 8-LIKE; NAT8L", "OMIM:610648": "CUT-LIKE HOMEOBOX 2; CUX2", "OMIM:610649": "BONE SIZE QUANTITATIVE TRAIT LOCUS 3", "OMIM:610650": "ADHESION-REGULATING MOLECULE 1; ADRM1", "OMIM:610652": "PHOSPHODIESTERASE 10A; PDE10A", "OMIM:610653": "RIBOSOMAL RNA-PROCESSING 1; RRP1", "OMIM:610654": "RIBOSOMAL RNA-PROCESSING 1B; RRP1B", "OMIM:610656": "CYSTEINE CONJUGATE BETA-LYASE 2; CCBL2", "OMIM:610657": "WASH COMPLEX, SUBUNIT 5; WASHC5", "OMIM:610658": "TRIPARTITE MOTIF-CONTAINING PROTEIN 29; TRIM29", "OMIM:610659": "GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 1; GRID1", "OMIM:610660": "GLYOXYLATE REDUCTASE 1 HOMOLOG; GLYR1", "OMIM:610661": "N-GLYCANASE 1; NGLY1", "OMIM:610662": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Y PROTEIN; PIGY", "OMIM:610663": "SET AND MYND DOMAIN-CONTAINING PROTEIN 2; SMYD2", "OMIM:610664": "BRIDGE-LIKE LIPID TRANSFER PROTEIN FAMILY, MEMBER 2; BLTP2", "OMIM:610665": "Fc FRAGMENT OF IgG RECEPTOR IIIb; FCGR3B", "OMIM:610666": "NEURENSIN 2; NRSN2", "OMIM:610667": "UBIQUITIN CARBOXYL-TERMINAL HYDROLASE L5; UCHL5", "OMIM:610668": "INSC SPINDLE ORIENTATION ADAPTOR PROTEIN; INSC", "OMIM:610669": "TNFAIP3-INTERACTING PROTEIN 2; TNIP2", "OMIM:610670": "CYTOCHROME P450, FAMILY 2, SUBFAMILY U, POLYPEPTIDE 1; CYP2U1", "OMIM:610671": "ZINC FINGER PROTEIN 628; ZNF628", "OMIM:610672": "NUCLEUS ACCUMBENS-ASSOCIATED PROTEIN 1, BEN AND BTB/POZ DOMAINS-CONTAINING; NACC1", "OMIM:610673": "NUCLEAR APOPTOSIS-INDUCING FACTOR 1; NAIF1", "OMIM:610674": "SPERM FLAGELLAR PROTEIN 1; SPEF1", "OMIM:610675": "UNCONVENTIONAL SNARE IN THE ER 1; USE1", "OMIM:610676": "AUTISM, SUSCEPTIBILITY TO, 7; AUTS7", "OMIM:610677": "LSM14A mRNA PROCESSING BODY ASSEMBLY FACTOR; LSM14A", "OMIM:610679": "CYCLIN-DEPENDENT KINASE 14; CDK14", "OMIM:610680": "HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS", "OMIM:610681": "PHOSPHOFRUCTOKINASE, MUSCLE TYPE; PFKM", "OMIM:610683": "BBS12 GENE; BBS12", "OMIM:610684": "C-TERMINAL DOMAIN NUCLEAR ENVELOPE PHOSPHATASE 1; CTDNEP1", "OMIM:610685": "SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2", "OMIM:610686": "UBX DOMAIN PROTEIN 2B; UBXN2B", "OMIM:610689": "DIPLA1, ANTISENSE", "OMIM:610690": "3-HYDROXYISOBUTYRYL-CoA HYDROLASE; HIBCH", "OMIM:610691": "PRUNE HOMOLOG 2 WITH BCH DOMAIN; PRUNE2", "OMIM:610692": "HEAT-SHOCK 27-KD PROTEIN 7; HSPB7", "OMIM:610693": "HYLS1 CENTRIOLAR AND CILIOGENESIS-ASSOCIATED PROTEIN; HYLS1", "OMIM:610694": "PYROGLUTAMYL PEPTIDASE I; PGPEP1", "OMIM:610695": "HEAT-SHOCK 27-KD PROTEIN 6; HSPB6", "OMIM:610696": "PCNA CLAMP-ASSOCIATED FACTOR; PCLAF", "OMIM:610697": "PDZ DOMAIN-CONTAINING 2; PDZD2", "OMIM:610699": "ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 2A; ZFAND2A", "OMIM:610700": "HTRA SERINE PEPTIDASE 4; HTRA4", "OMIM:610701": "HEAT-SHOCK 70-KD PROTEIN 12A; HSPA12A", "OMIM:610702": "HEAT-SHOCK 70-KD PROTEIN 12B; HSPA12B", "OMIM:610703": "HEAT-SHOCK 105/110-KD PROTEIN 1; HSPH1", "OMIM:610704": "PROHIBITIN 2; PHB2", "OMIM:610705": "CD300 ANTIGEN-LIKE FAMILY, MEMBER B; CD300LB", "OMIM:610707": "PSORIASIS 8, SUSCEPTIBILITY TO; PSORS8", "OMIM:610709": "TESTIS-SPECIFIC SERINE/THREONINE KINASE 1; TSSK1", "OMIM:610710": "TESTIS-SPECIFIC SERINE/THREONINE KINASE 2; TSSK2", "OMIM:610711": "TESTIS-SPECIFIC SERINE/THREONINE KINASE 4; TSSK4", "OMIM:610712": "TESTIS-SPECIFIC SERINE/THREONINE KINASE 6; TSSK6", "OMIM:610714": "PROTEIN KINASE N3; PKN3", "OMIM:610715": "HEMOGEN; HEMGN", "OMIM:610716": "TIMELESS-INTERACTING PROTEIN; TIPIN", "OMIM:610718": "MICRO RNA 195; MIR195", "OMIM:610719": "MICRO RNA 199A1; MIR199A1", "OMIM:610720": "MICRO RNA 199A2; MIR199A2", "OMIM:610721": "MICRO RNA 214; MIR214", "OMIM:610723": "MICRO RNA 23B; MIR23B", "OMIM:610724": "MICRO RNA 24-2; MIR24-2", "OMIM:610726": "TRUB PSEUDOURIDINE SYNTHASE FAMILY MEMBER 1; TRUB1", "OMIM:610727": "TRUB PSEUDOURIDINE SYNTHASE FAMILY MEMBER 2; TRUB2", "OMIM:610728": "SPHINGOMYELIN PHOSPHODIESTERASE, ACID-LIKE, 3A; SMPDL3A", "OMIM:610729": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 10; DNAAF10", "OMIM:610730": "CHAPERONIN-CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6B; CCT6B", "OMIM:610731": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 7; ANKRD7", "OMIM:610732": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 12; TTC12", "OMIM:610734": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; ANKRD2", "OMIM:610735": "MYOZENIN 3; MYOZ3", "OMIM:610736": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 23; ANKRD23", "OMIM:610737": "KINASE SUPPRESSOR OF RAS 2; KSR2", "OMIM:610739": "TRINUCLEOTIDE REPEAT-CONTAINING GENE 6A; TNRC6A", "OMIM:610740": "TRINUCLEOTIDE REPEAT-CONTAINING GENE 6B; TNRC6B", "OMIM:610741": "TRINUCLEOTIDE REPEAT-CONTAINING GENE 6C; TNRC6C", "OMIM:610742": "MOV10 RISC COMPLEX RNA HELICASE ; MOV10", "OMIM:610744": "IRIS PATTERN", "OMIM:610745": "STIMULATED BY RETINOIC ACID 6; STRA6", "OMIM:610746": "DOLICHOL KINASE; DOLK", "OMIM:610747": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 4A; SAMD4A", "OMIM:610748": "UBIQUITIN-SPECIFIC PROTEASE 28; USP28", "OMIM:610749": "KELCH-LIKE 31; KLHL31", "OMIM:610750": "ZINC FINGER CCHC DOMAIN- AND RNA-BINDING MOTIF-CONTAINING PROTEIN 1; ZCRB1", "OMIM:610751": "PHOSPHORIBOSYL TRANSFERASE DOMAIN-CONTAINING PROTEIN 1; PRTFDC1", "OMIM:610752": "URONYL 2-SULFOTRANSFERASE; UST", "OMIM:610754": "WAPL COHESIN RELEASE FACTOR; WAPL", "OMIM:610757": "CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 2; CCL4L2", "OMIM:610760": "CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2", "OMIM:610761": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5", "OMIM:610762": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; HDLCQ6", "OMIM:610763": "N-ACETYLNEURAMINIC ACID PHOSPHATASE; NANP", "OMIM:610764": "TSPO-ASSOCIATED PROTEIN 1; TSPOAP1", "OMIM:610766": "MEIOSIS-SPECIFIC NUCLEAR STRUCTURAL PROTEIN 1; MNS1", "OMIM:610767": "AUTOPHAGY 16-LIKE 1; ATG16L1", "OMIM:610769": "NOC3-LIKE DNA REPLICATION REGULATOR; NOC3L", "OMIM:610770": "NOC2-LIKE NUCLEOLAR-ASSOCIATED TRANSCRIPTIONAL REPRESSOR; NOC2L", "OMIM:610771": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 5; CHD5", "OMIM:610772": "NK6 HOMEOBOX 3; NKX6-3", "OMIM:610774": "CANOPY FGF SIGNALING REGULATOR 3; CNPY3", "OMIM:610775": "TP53-INDUCED GLYCOLYSIS AND APOPTOSIS REGULATOR; TIGAR", "OMIM:610776": "DAMAGE-REGULATED AUTOPHAGY MODULATOR 1; DRAM1", "OMIM:610777": "NEUROGUIDIN; NGDN", "OMIM:610778": "GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1-LIKE; GNB1L", "OMIM:610779": "NUCLEOTIDE-BINDING PROTEIN 2; NUBP2", "OMIM:610780": "LARGE 60S SUBUNIT NUCLEAR EXPORT GTPase 1; LSG1", "OMIM:610781": "GUANOSINE MONOPHOSPHATE REDUCTASE 2; GMPR2", "OMIM:610782": "MICRO RNA 29A; MIR29A", "OMIM:610783": "MICRO RNA 29B1; MIR29B1", "OMIM:610784": "MICRO RNA 29C; MIR29C", "OMIM:610785": "PDLIM1-INTERACTING KINASE 1-LIKE; PDIK1L", "OMIM:610786": "SRC KINASE SIGNALING INHIBITOR 1; SRCIN1", "OMIM:610787": "PRAC2 SMALL NUCLEAR PROTEIN; PRAC2", "OMIM:610788": "SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER), MEMBER B2; SLC35B2", "OMIM:610789": "p53 AND DNA DAMAGE-REGULATED 1; PDRG1", "OMIM:610790": "SOLUTE CARRIER FAMILY 35, MEMBER B1; SLC35B1", "OMIM:610791": "SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 2; SLC43A2", "OMIM:610792": "SOLUTE CARRIER FAMILY 22, MEMBER 25; SLC22A25", "OMIM:610793": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, KIDNEY), MEMBER 30; SLC25A30", "OMIM:610794": "ZINC FINGER PROTEIN 323; ZNF323", "OMIM:610795": "SORBIN AND SH3 DOMAINS-CONTAINING PROTEIN 3; SORBS3", "OMIM:610796": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 31; SLC25A31", "OMIM:610800": "AUTOPHAGY-RELATED 10; ATG10", "OMIM:610801": "SOLUTE CARRIER FAMILY 41 (MAGNESIUM TRANSPORTER), MEMBER 1; SLC41A1", "OMIM:610802": "SOLUTE CARRIER FAMILY 41, MEMBER 2; SLC41A2", "OMIM:610803": "SOLUTE CARRIER FAMILY 41, MEMBER 3; SLC41A3", "OMIM:610804": "SOLUTE CARRIER FAMILY 35 (UDP-GLUCURONIC ACID/UDP-N-ACETYLGALACTOSAMINE DUAL TRANSPORTER), MEMBER D1; SLC35D1", "OMIM:610806": "TBC1 DOMAIN FAMILY, MEMBER 3C; TBC1D3C", "OMIM:610807": "TBC1 DOMAIN FAMILY, MEMBER 3D; TBC1D3D", "OMIM:610808": "TBC1 DOMAIN FAMILY, MEMBER 3E; TBC1D3E", "OMIM:610809": "TBC1 DOMAIN FAMILY, MEMBER 3F; TBC1D3F", "OMIM:610810": "TBC1 DOMAIN FAMILY, MEMBER 3G; TBC1D3G", "OMIM:610811": "TBC1 DOMAIN FAMILY, MEMBER 3H; TBC1D3H", "OMIM:610812": "HYDIN AXONEMAL CENTRAL PAIR APPARATUS PROTEIN; HYDIN", "OMIM:610813": "HYDIN AXONEMAL CENTRAL PAIR APPARATUS PROTEIN 2; HYDIN2", "OMIM:610816": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PYRIMIDINE NUCLEOTIDE TRANSPORTER), MEMBER 33; SLC25A33", "OMIM:610817": "SOLUTE CARRIER FAMILY 25, MEMBER 34; SLC25A34", "OMIM:610818": "SOLUTE CARRIER FAMILY 25, MEMBER 35; SLC25A35", "OMIM:610819": "SOLUTE CARRIER FAMILY 25, MEMBER 38; SLC25A38", "OMIM:610820": "SOLUTE CARRIER FAMILY 25, MEMBER 39; SLC25A39", "OMIM:610821": "SOLUTE CARRIER FAMILY 25, MEMBER 40; SLC25A40", "OMIM:610822": "SOLUTE CARRIER FAMILY 25, MEMBER 41; SLC25A41", "OMIM:610823": "SOLUTE CARRIER FAMILY 25, MEMBER 42; SLC25A42", "OMIM:610824": "SOLUTE CARRIER FAMILY 25, MEMBER 44; SLC25A44", "OMIM:610825": "SOLUTE CARRIER FAMILY 25, MEMBER 45; SLC25A45", "OMIM:610826": "SOLUTE CARRIER FAMILY 25, MEMBER 46; SLC25A46", "OMIM:610827": "ZINC FINGER PROTEIN 335; ZNF335", "OMIM:610830": "POLYOSTEOLYSIS-HYPEROSTOSIS SYNDROME", "OMIM:610831": "TBC1 DOMAIN FAMILY, MEMBER 10C; TBC1D10C", "OMIM:610833": "N-ALPHA-ACETYLTRANSFERASE 20, NatB CATALYTIC SUBUNIT; NAA20", "OMIM:610834": "N-ALPHA-ACETYLTRANSFERASE 50, NatE CATALYTIC SUBUNIT; NAA50", "OMIM:610835": "NMDA RECEPTOR-REGULATED 2; NARG2", "OMIM:610836": "AUTISM, SUSCEPTIBILITY TO, 11; AUTS11", "OMIM:610837": "BCL2-LIKE 12; BCL2L12", "OMIM:610838": "AUTISM, SUSCEPTIBILITY TO, 12; AUTS12", "OMIM:610839": "OSTEOARTHRITIS SUSCEPTIBILITY 4; OS4", "OMIM:610841": "STROMAL INTERACTION MOLECULE 2; STIM2", "OMIM:610843": "UBIQUINOL-CYTOCHROME C REDUCTASE, COMPLEX III SUBUNIT X; UQCR10", "OMIM:610844": "SPG11 VESICLE TRAFFICKING ASSOCIATED, SPATACSIN; SPG11", "OMIM:610845": "SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER), MEMBER B3; SLC35B3", "OMIM:610846": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 10; LRRC10", "OMIM:610847": "ZINC FINGER PROTEIN 322; ZNF322", "OMIM:610848": "RAB15 EFFECTOR PROTEIN; REP15", "OMIM:610849": "TUBULIN TYROSINE LIGASE-LIKE 6; TTLL6", "OMIM:610850": "XPA-BINDING PROTEIN 2; XAB2", "OMIM:610851": "ADAPTOR-RELATED PROTEIN COMPLEX 1-ASSOCIATED REGULATORY PROTEIN; AP1AR", "OMIM:610853": "AT-HOOK-CONTAINING TRANSCRIPTION FACTOR 1; AHCTF1", "OMIM:610855": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 26; ANKRD26", "OMIM:610856": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 30A; ANKRD30A", "OMIM:610857": "MUCIN-LIKE 1; MUCL1", "OMIM:610858": "RNA TRANSCRIPTION, TRANSLATION, AND TRANSPORT FACTOR; RTRAF", "OMIM:610859": "CAPPING PROTEIN REGULATOR AND MYOSIN 1 LINKER 2; CARMIL2", "OMIM:610860": "AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL", "OMIM:610861": "SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 3; SYNE3", "OMIM:610862": "DELTA(4)-DESATURASE, SPHINGOLIPID, 2; DEGS2", "OMIM:610863": "GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-4; GNB4", "OMIM:610864": "FLVCR1 DIVERGENT TRANSCRIPT; FLVCR1-DT", "OMIM:610865": "FLVCR HEME TRANSPORTER 2; FLVCR2", "OMIM:610866": "URIDINE/CYTIDINE KINASE-LIKE 1; UCKL1", "OMIM:610867": "LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 1: LRRTM1", "OMIM:610868": "LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 2; LRRTM2", "OMIM:610869": "LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 3; LRRTM3", "OMIM:610870": "LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 4; LRRTM4", "OMIM:610871": "SAKODA COMPLEX", "OMIM:610872": "RING FINGER PROTEIN 19B; RNF19B", "OMIM:610873": "MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1", "OMIM:610874": "SPERMATOGENESIS AND CENTRIOLE-ASSOCIATED 1; SPATC1", "OMIM:610875": "PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 1; PPP6R1", "OMIM:610876": "HECT DOMAIN- AND ANKYRIN REPEAT-CONTAINING E3 UBIQUITIN PROTEIN LIGASE 1; HACE1", "OMIM:610877": "PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 2; PPP6R2", "OMIM:610879": "PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 3; PPP6R3", "OMIM:610880": "CHROMOSOME 11 OPEN READING FRAME 24; C11ORF24", "OMIM:610881": "LYSINE METHYLTRANSFERASE 5B; KMT5B", "OMIM:610882": "SS NUCLEAR AUTOANTIGEN 1; SSNA1", "OMIM:610884": "FA CORE COMPLEX-ASSOCIATED PROTEIN 24; FAAP24", "OMIM:610885": "ESSENTIAL MEIOTIC STRUCTURE-SPECIFIC ENDONUCLEASE 1; EME1", "OMIM:610886": "ESSENTIAL MEIOTIC STRUCTURE-SPECIFIC ENDONUCLEASE 2; EME2", "OMIM:610887": "POLYMERASE, DNA, NU; POLN", "OMIM:610888": "GASTRIC CANCER-RELATED GENE 224", "OMIM:610889": "IMPORTIN 11; IPO11", "OMIM:610890": "REGULATOR OF G PROTEIN SIGNALING 7-BINDING PROTEIN; RGS7BP", "OMIM:610891": "FAMILY WITH SEQUENCE SIMILARITY 102, MEMBER A; FAM102A", "OMIM:610892": "SYNAPTOTAGMIN 14-LIKE PROTEIN; SYT14L", "OMIM:610893": "CHARGED MULTIVESICULAR BODY PROTEIN 2A; CHMP2A", "OMIM:610894": "NEUREGULIN 4; NRG4", "OMIM:610895": "WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING PROTEIN 2; WFIKKN2", "OMIM:610897": "CHARGED MULTIVESICULAR BODY PROTEIN 4B; CHMP4B", "OMIM:610898": "SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3", "OMIM:610899": "CHARGED MULTIVESICULAR BODY PROTEIN 4C; CHMP4C", "OMIM:610900": "CHARGED MULTIVESICULAR BODY PROTEIN 5; CHMP5", "OMIM:610901": "CHARGED MULTIVESICULAR BODY PROTEIN 6; CHMP6", "OMIM:610902": "VESSICLE TRAFFICKING 1; VTA1", "OMIM:610903": "VACUOLAR PROTEIN SORTING 36 HOMOLOG; VPS36", "OMIM:610904": "SNF8 SUBUNIT OF ESCRIT-II; SNF8", "OMIM:610906": "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4", "OMIM:610907": "VACUOLAR PROTEIN SORTING 25 HOMOLOG; VPS25", "OMIM:610908": "AUTISM, SUSCEPTIBILITY TO, 13; AUTS13", "OMIM:610909": "MINICHROMOSOME MAINTENANCE COMPLEX-BINDING PROTEIN; MCMBP", "OMIM:610911": "RHO GTPase-ACTIVATING PROTEIN 31; ARHGAP31", "OMIM:610912": "AMELOTIN; AMTN", "OMIM:610914": "ECTO-NOX DISULFIDE-THIOL EXCHANGER 1; ENOX1", "OMIM:610916": "NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 2; NSUN2", "OMIM:610917": "RAS-ASSOCIATED PROTEIN 34; RAB34", "OMIM:610918": "SELENOPROTEIN M; SELENOM", "OMIM:610919": "GTP-BINDING PROTEIN 5; GTPBP5", "OMIM:610920": "GTP-BINDING PROTEIN 10; GTPBP10", "OMIM:610922": "NUCLEAR PORE ASSOCIATED PROTEIN 1; NPAP1", "OMIM:610923": "SOLUTE CARRIER FAMILY 35 (UDP-XYLOSE/UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER B4; SLC35B4", "OMIM:610924": "RANBP-TYPE AND C3HC4-TYPE ZINC FINGER-CONTAINING 1; RBCK1", "OMIM:610925": "INTERLEUKIN 17 RECEPTOR C; IL17RC", "OMIM:610926": "TOOTH AGENESIS, SELECTIVE, 5; STHAG5", "OMIM:610927": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; SLEB9", "OMIM:610928": "SRY-BOX 17; SOX17", "OMIM:610929": "ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 2; ORAI2", "OMIM:610930": "ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 3; ORAI3", "OMIM:610931": "ZINC FINGER GENE IN AUTOIMMUNE THYROID DISEASE 1; ZFAT1", "OMIM:610932": "TWINFILIN ACTIN-BINDING PROTEIN 1; TWF1", "OMIM:610933": "LEUCINE-RICH REPEAT- AND STERILE ALPHA MOTIF-CONTAINING 1; LRSAM1", "OMIM:610934": "NOBOX OOGENESIS HOMEOBOX; NOBOX", "OMIM:610935": "ZINC-ACTIVATED ION CHANNEL; ZACN", "OMIM:610936": "PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1", "OMIM:610937": "RPGRIP1-LIKE; RPGRIP1L", "OMIM:610938": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; CHDS7", "OMIM:610939": "MICRO RNA 192; MIR192", "OMIM:610940": "MICRO RNA 194-1; MIR194-1", "OMIM:610941": "MICRO RNA 194-2; MIR194-2", "OMIM:610942": "MICRO RNA 204; MIR204", "OMIM:610943": "MICRO RNA 215; MIR215", "OMIM:610944": "MICRO RNA 216; MIR216", "OMIM:610945": "MICRO RNA 296; MIR296", "OMIM:610946": "MICRO RNA 133B; MIR133B", "OMIM:610948": "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7", "OMIM:610949": "SYNAPTOTAGMIN 14; SYT14", "OMIM:610950": "SYNAPTOTAGMIN 16; SYT16", "OMIM:610952": "CROOKED NECK PRE-mRNA SPLICING FACTOR-LIKE 1; CRNKL1", "OMIM:610953": "PIF1 5-PRIME-TO-3-PRIME DNA HELICASE; PIF1", "OMIM:610955": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 3; TRAPPC3", "OMIM:610956": "ASPARTYL-tRNA SYNTHETASE 2; DARS2", "OMIM:610957": "TYROSYL-tRNA SYNTHETASE 2; YARS2", "OMIM:610958": "1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 9; AGPAT9", "OMIM:610959": "MICRO RNA 376A1; MIR376A1", "OMIM:610960": "MICRO RNA 376A2; MIR376A2", "OMIM:610961": "MICRO RNA 376B; MIR376B", "OMIM:610962": "SMG5 NONSENSE-MEDIATED mRNA DECAY FACTOR; SMG5", "OMIM:610963": "SMG6 NONSENSE-MEDIATED mRNA DECAY FACTOR; SMG6", "OMIM:610964": "SMG7 NONSENSE-MEDIATED mRNA DECAY FACTOR; SMG7", "OMIM:610966": "FTO ALPHA-KETOGLUTARATE-DEPENDENT DIOXYGENASE; FTO", "OMIM:610969": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 1; TRAPPC1", "OMIM:610970": "TRAFFICKING PROTEIN PARTICLE COMPLEX 2-LIKE; TRAPPC2L", "OMIM:610971": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 4; TRAPPC4", "OMIM:610972": "ADHERENS JUNCTION-ASSOCIATED PROTEIN 1; AJAP1", "OMIM:610973": "MEMBRANE PROTEIN, PALMITOYLATED 7; MPP7", "OMIM:610974": "ZINC FINGER PROTEIN 521; ZNF521", "OMIM:610975": "SKIN-, EMBRYO-, BRAIN-, AND OOCYTE-SPECIFIC HOMEOBOX", "OMIM:610976": "APOLIPOPROTEIN B mRNA EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3H; APOBEC3H", "OMIM:610977": "TETRACYCLINE TRANSPORTER-LIKE PROTEIN", "OMIM:610979": "DIPHOSPHOINOSITOL PENTAKISPHOSPHATE KINASE 1; PPIP5K1", "OMIM:610980": "KCNQ1 DOWNSTREAM NEIGHBOR; KCNQ1DN", "OMIM:610981": "WWBP2 N-TERMINAL-LIKE PROTEIN; WBP2NL", "OMIM:610982": "INVERTED FORMIN 2; INF2", "OMIM:610983": "MICRO RNA 376C; MIR376C", "OMIM:610985": "UBIQUITIN E2 VARIANT AND LACTATE/MALATE DEHYDROGENASE DOMAINS-CONTAINING PROTEIN; UEVLD", "OMIM:610986": "LEUCINE-RICH REPEAT KINASE 1; LRRK1", "OMIM:610987": "N-ACYLSPHINGOSINE AMIDOHYDROLASE 2B; ASAH2B", "OMIM:610988": "LEPROSY, SUSCEPTIBILITY TO, 4; LPRS4", "OMIM:610989": "LEMUR TYROSINE KINASE 2; LMTK2", "OMIM:610990": "PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT 18; PPP1R18", "OMIM:610991": "OBSCURIN-LIKE 1; OBSL1", "OMIM:610993": "UBIQUITIN-SPECIFIC PROTEASE 44; USP44", "OMIM:610994": "TRANSMEMBRANE PROTEIN 189; TMEM189", "OMIM:610995": "PRENYLCYSTEINE OXIDASE 1; PCYOX1", "OMIM:610996": "D-AMINOACYL-tRNA DEACYLASE 1; DTD1", "OMIM:610997": "PROSTATE CANCER, HEREDITARY, 9; HPC9", "OMIM:610998": "METEORIN; METRN", "OMIM:610999": "ENHANCER OF POLYCOMB HOMOLOG 1; EPC1", "OMIM:611000": "ENHANCER OF POLYCOMB HOMOLOG 2; EPC2", "OMIM:611001": "MYST/ESA1-ASSOCIATED FACTOR 6; MEAF6", "OMIM:611002": "TRANSMEMBRANE PROTEIN 204; TMEM204", "OMIM:611003": "SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1", "OMIM:611004": "SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2", "OMIM:611005": "MEX3 RNA-BINDING FAMILY MEMBER C; MEX3C", "OMIM:611006": "IRON-SULFUR CLUSTER ASSEMBLY 1; ISCA1", "OMIM:611007": "MEX3 RNA-BINDING FAMILY MEMBER A; MEX3A", "OMIM:611008": "MEX3 RNA-BINDING FAMILY MEMBER B; MEX3B", "OMIM:611009": "MEX3 RNA-BINDING FAMILY MEMBER D; MEX3D", "OMIM:611010": "FIBROMATOSIS, GINGIVAL, 4; GINGF4", "OMIM:611011": "TRANSMEMBRANE PROTEIN 259; TMEM259", "OMIM:611012": "REGULATOR OF G PROTEIN SIGNALING-LIKE 1; RGSL1", "OMIM:611013": "REGULATOR OF G PROTEIN SIGNALING-LIKE 2; RGSL2", "OMIM:611014": "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8", "OMIM:611015": "AUTISM, SUSCEPTIBILITY TO, 9; AUTS9", "OMIM:611016": "AUTISM, SUSCEPTIBILITY TO, 10; AUTS10", "OMIM:611017": "TRYPSIN DOMAIN-CONTAINING PROTEIN 1; TYSND1", "OMIM:611018": "POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2B; PAIP2B", "OMIM:611019": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E2; ATP6V0E2", "OMIM:611020": "MICRO RNA 21; MIR21", "OMIM:611021": "NMD3 RIBOSOME EXPORT ADAPTOR; NMD3", "OMIM:611023": "tRNA METHYLTRANSFERASE 5; TRMT5", "OMIM:611024": "ZINC FINGER PROTEIN 667; ZNF667", "OMIM:611025": "ENKURIN, TRPC CHANNEL-INTERACTING PROTEIN; ENKUR", "OMIM:611026": "FATTY ACID 2-HYDROXYLASE; FA2H", "OMIM:611027": "SHC-BINDING AND SPINDLE-ASSOCIATED PROTEIN 1; SHCBP1", "OMIM:611028": "TRANSMEMBRANE PROTEIN 30A; TMEM30A", "OMIM:611029": "TRANSMEMBRANE PROTEIN 30B; TMEM30B", "OMIM:611030": "TRANSMEMBRANE PROTEIN 30C; TMEM30C", "OMIM:611032": "SPERMATOGENESIS-ASSOCIATED PROTEIN 17; SPATA17", "OMIM:611033": "CHROMOSOME 11 OPEN READING FRAME 21; C11ORF21", "OMIM:611034": "SOLUTE CARRIER FAMILY 17 (ORGANIC ANION TRANSPORTER), MEMBER 3; SLC17A3", "OMIM:611035": "APRATAXIN- AND PNKP-LIKE FACTOR; APLF", "OMIM:611036": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 13; SLC2A13", "OMIM:611037": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 26; SLC25A26", "OMIM:611039": "SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 14; SLC2A14", "OMIM:611041": "TRIPARTITE MOTIF-CONTAINING PROTEIN 47; TRIM47", "OMIM:611042": "LATE CORNIFIED ENVELOPE-LIKE PROLINE-RICH 1; LELP1", "OMIM:611043": "LIN28 HOMOLOG A; LIN28A", "OMIM:611044": "LIN28 HOMOLOG B; LIN28B", "OMIM:611045": "GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3", "OMIM:611046": "MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2", "OMIM:611047": "RETINOIC ACID EARLY TRANSCRIPT 1L; RAET1L", "OMIM:611048": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15A; PPP1R15A", "OMIM:611049": "SOLUTE CARRIER FAMILY 17, MEMBER 2; SLC17A2", "OMIM:611050": "LEUCINE ZIPPER PROTEIN 6; LUZP6", "OMIM:611051": "COILED-COIL DOMAIN-CONTAINING PROTEIN 50; CCDC50", "OMIM:611052": "SET DOMAIN-CONTAINING PROTEIN 1A; SETD1A", "OMIM:611053": "RUN DOMAIN AND SH3 DOMAIN-CONTAINING PROTEIN 2; RUSC2", "OMIM:611054": "PTPRF-INTERACTING PROTEIN ALPHA-1; PPFIA1", "OMIM:611055": "SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B", "OMIM:611056": "SELENOCYSTEINE LYASE; SCLY", "OMIM:611058": "PEROXISOME BIOGENESIS FACTOR 5-LIKE; PEX5L", "OMIM:611059": "WD REPEAT-CONTAINING PROTEIN 82; WDR82", "OMIM:611060": "SET-BINDING PROTEIN 1; SETBP1", "OMIM:611061": "FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C", "OMIM:611062": "FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER A; FAM20A", "OMIM:611063": "FAM20B GLYCOSAMINOGLYCAN XYLOSYLKINASE; FAM20B", "OMIM:611064": "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5", "OMIM:611065": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1K; PPM1K", "OMIM:611066": "PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE-LIKE; PHLPPL", "OMIM:611068": "SMALL NUCLEOLAR RNA, C/D BOX, 43; SNORD43", "OMIM:611069": "RNA, U86 SMALL NUCLEOLAR", "OMIM:611070": "SMALL NUCLEOLAR RNA, C/D BOX, 83A; SNORD83A", "OMIM:611071": "SMALL NUCLEOLAR RNA, C/D BOX, 83B; SNORD83B", "OMIM:611072": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 24; DNAJC24", "OMIM:611073": "ALZHEIMER DISEASE 12", "OMIM:611074": "BRAIN-SPECIFIC HOMEOBOX; BSX", "OMIM:611075": "DIPHTHAMIDE BIOSYNTHESIS PROTEIN 5; DPH5", "OMIM:611076": "5-PRIME-NUCLEOTIDASE DOMAIN-CONTAINING PROTEIN 3; NT5DC3", "OMIM:611077": "COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 4; CHCHD4", "OMIM:611078": "COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 1; CBWD1", "OMIM:611079": "COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 2; CBWD2", "OMIM:611080": "COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 3; CBWD3", "OMIM:611081": "INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 10; IBD10", "OMIM:611082": "MIAT GENE; MIAT", "OMIM:611083": "ALCOHOL DEHYDROGENASE, IRON-CONTAINING, 1; ADHFE1", "OMIM:611084": "FORKHEAD BOX D4-LIKE 1; FOXD4L1", "OMIM:611085": "FORKHEAD BOX D4-LIKE 4; FOXD4L4", "OMIM:611086": "FORKHEAD BOX D4-LIKE 3; FOXD4L3", "OMIM:611088": "COILED-COIL DOMAIN-CONTAINING PROTEIN 65; CCDC65", "OMIM:611089": "MYOTUBULARIN-RELATED PROTEIN 14; MTMR14", "OMIM:611098": "STEAP4 METALLOREDUCTASE; STEAP4", "OMIM:611099": "PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6", "OMIM:611100": "PROSTATE CANCER, HEREDITARY, 10; HPC10", "OMIM:611101": "PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G5; PLEKHG5", "OMIM:611103": "ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9", "OMIM:611104": "FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4", "OMIM:611106": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12D; ZC3H12D", "OMIM:611108": "VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2; VWC2", "OMIM:611109": "CINNAMON ODOR, PLEASANTNESS OF", "OMIM:611110": "MAP3K7 C-TERMINAL-LIKE PROTEIN; MAP3K7CL", "OMIM:611111": "DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 5; DPPA5", "OMIM:611112": "DAPPER, ANTAGONIST OF BETA-CATENIN, 3; DACT3", "OMIM:611113": "CEMENTUM PROTEIN 1; CEMP1", "OMIM:611114": "MICRO RNA 150; MIR150", "OMIM:611115": "VON WILLEBRAND FACTOR C AND EGF DOMAIN-CONTAINING PROTEIN; VWCE", "OMIM:611116": "MICRO RNA 208A; MIR208A", "OMIM:611117": "PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1", "OMIM:611118": "NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL", "OMIM:611119": "KELCH-LIKE 7; KLHL7", "OMIM:611120": "SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3", "OMIM:611121": "CALMIN; CLMN", "OMIM:611122": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 28; ANKRD28", "OMIM:611123": "EPHRIN RECEPTOR EphA10; EPHA10", "OMIM:611124": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8; MFSD8", "OMIM:611125": "DERMATAN SULFATE EPIMERASE-LIKE; DSEL", "OMIM:611127": "UBIQUITIN-LIKE 4B; UBL4B", "OMIM:611128": "MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2; MDGA2", "OMIM:611129": "WW DOMAIN-BINDING PROTEIN 1-LIKE; WBP1L", "OMIM:611130": "CHARGED MULTIVESICULAR BODY PROTEIN 7; CHMP7", "OMIM:611132": "RIBOKINASE; RBKS", "OMIM:611133": "SMALL NUCLEOLAR RNA, C/D BOX, 82; SNORD82", "OMIM:611135": "KLOTHO, BETA; KLB", "OMIM:611136": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13", "OMIM:611137": "PROTEASOME SUBUNIT, BETA-TYPE, 11; PSMB11", "OMIM:611138": "SPERMATID PERINUCLEAR RNA-BINDING PROTEIN; STRBP", "OMIM:611139": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8", "OMIM:611140": "TELOMERE MAINTENANCE 2; TELO2", "OMIM:611141": "MINDBOMB E3 UBIQUITIN PROTEIN LIGASE 2; MIB2", "OMIM:611142": "CYTOSKELETON-ASSOCIATED PROTEIN 5; CKAP5", "OMIM:611143": "ABRAXAS 1, BRCA1 A COMPLEX SUBUNIT; ABRAXAS1", "OMIM:611144": "ABRAXAS 2, BRISC COMPLEX SUBUNIT; ABRAXAS2", "OMIM:611145": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8", "OMIM:611146": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 10; SLC30A10", "OMIM:611148": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 6; SLC30A6", "OMIM:611149": "SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 7; SLC30A7", "OMIM:611150": "ATAXIN 10; ATXN10", "OMIM:611151": "tRNA METHYLTRANSFERASE 2 HOMOLOG A; TRMT2A", "OMIM:611152": "ALZHEIMER DISEASE 13; AD13", "OMIM:611153": "XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA", "OMIM:611154": "ALZHEIMER DISEASE 14; AD14", "OMIM:611156": "ENDOPLASMIC RETICULUM METALLOPEPTIDASE 1; ERMP1", "OMIM:611157": "MRG/MORF4L-BINDING PROTEIN; MRGBP", "OMIM:611158": "KERATIN 77, TYPE II; KRT77", "OMIM:611159": "KERATIN 78, TYPE II; KRT78", "OMIM:611160": "KERATIN 79, TYPE II; KRT79", "OMIM:611161": "KERATIN 80, TYPE II; KRT80", "OMIM:611162": "MALARIA, SUSCEPTIBILITY TO", "OMIM:611163": "TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 2; TOX2", "OMIM:611164": "ARGININE-FIFTY HOMEOBOX; ARGFX", "OMIM:611165": "DIVERGENT-PAIRED RELATED HOMEOBOX; DPRX", "OMIM:611166": "TETRAPEPTIDE REPEAT HOMEOBOX 1; TPRX1", "OMIM:611167": "TETRAPEPTIDE REPEAT HOMEOBOX-LIKE; TPRXL", "OMIM:611168": "DOUBLE HOMEOBOX A; DUXA", "OMIM:611169": "CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT BETA; CATSPERB", "OMIM:611170": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L", "OMIM:611171": "SHOOTIN1; SHTN1", "OMIM:611172": "MICRO RNA 34A; MIR34A", "OMIM:611173": "MICRO RNA 375; MIR375", "OMIM:611175": "OBG-LIKE ATPase 1; OLA1", "OMIM:611176": "JNK/MAPK8-ASSOCIATED MEMBRANE PROTEIN; JKAMP", "OMIM:611177": "INTRAFLAGELLAR TRANSPORT 80; IFT80", "OMIM:611178": "GALANIN-LIKE PEPTIDE; GALP", "OMIM:611179": "SHROOM FAMILY MEMBER 1; SHROOM1", "OMIM:611180": "NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER B; NELFB", "OMIM:611181": "ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 10; ACAD10", "OMIM:611183": "BRICK1, SCAR/WAVE ACTIN-NUCLEATING COMPLEX SUBUNIT; BRK1", "OMIM:611184": "PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL COMPONENT 1; PIEZO1", "OMIM:611185": "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6", "OMIM:611186": "MICRO RNA 9-1; MIR9-1", "OMIM:611187": "MICRO RNA 9-2; MIR9-2", "OMIM:611188": "MICRO RNA 9-3; MIR9-3", "OMIM:611189": "MICRO RNA 197; MIR197", "OMIM:611190": "MICRO RNA 346; MIR346", "OMIM:611191": "MICRO RNA 125A; MIR125A", "OMIM:611192": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11", "OMIM:611193": "RIBOSOMAL RNA-PROCESSING 15 HOMOLOG; RRP15", "OMIM:611194": "RUN AND FYVE DOMAINS-CONTAINING PROTEIN 3; RUFY3", "OMIM:611195": "JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 1; JAKMIP1", "OMIM:611196": "ZINC FINGER MIZ-DOMAIN CONTAINING 2; ZMIZ2", "OMIM:611197": "JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 2; JAKMIP2", "OMIM:611198": "JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 3; JAKMIP3", "OMIM:611199": "DNTT-INTERACTING PROTEIN 2; DNTTIP2", "OMIM:611200": "TUDOR DOMAIN-CONTAINING PROTEIN 6; TDRD6", "OMIM:611201": "KELCH-LIKE 9; KLHL9", "OMIM:611202": "N-ACYLSPHINGOSINE AMIDOHYDROLASE 2; ASAH2", "OMIM:611203": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5; DNAJC5", "OMIM:611204": "COILED-COIL DOMAIN-CONTAINING PROTEIN 88C; CCDC88C", "OMIM:611205": "COILED-COIL DOMAIN-CONTAINING PROTEIN 88B; CCDC88B", "OMIM:611206": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 9; DNAJC9", "OMIM:611207": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 1; DNAJC1", "OMIM:611208": "HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN L-LIKE; HNRNPLL", "OMIM:611210": "PDZ-BINDING KINASE; PBK", "OMIM:611211": "RECEPTOR EXPRESSED IN LYMPHOID TISSUES; RELT", "OMIM:611212": "RELT-LIKE 1; RELL1", "OMIM:611213": "RELT-LIKE 2; RELL2", "OMIM:611214": "TSR1 RIBOSOME MATURATION FACTOR; TSR1", "OMIM:611215": "PRADER-WILLI REGION NONCODING RNA 1; PWRN1", "OMIM:611216": "UBX DOMAIN PROTEIN 4; UBXN4", "OMIM:611217": "PRADER-WILLI REGION NONCODING RNA 2; PWRN2", "OMIM:611218": "GASDERMIN A; GSDMA", "OMIM:611219": "UNC45 MYOSIN CHAPERONE A; UNC45A", "OMIM:611220": "UNC45 MYOSIN CHAPERONE B; UNC45B", "OMIM:611221": "GASDERMIN B; GSDMB", "OMIM:611222": "MICROPHTHALMIA, SYNDROMIC 10; MCOPS10", "OMIM:611223": "AKT SERINE/THREONINE KINASE 3; AKT3", "OMIM:611224": "SUCCINATE-CoA LIGASE, GDP/ADP-FORMING, SUBUNIT ALPHA; SUCLG1", "OMIM:611226": "ARMADILLO REPEAT-CONTAINING PROTEIN 3; ARMC3", "OMIM:611227": "HYDROGEN VOLTAGE-GATED CHANNEL 1; HVCN1", "OMIM:611229": "ENDOPLASMIC RETICULUM LECTIN 1; ERLEC1", "OMIM:611230": "NON-SMC CONDENSIN II COMPLEX SUBUNIT H2; NCAPH2", "OMIM:611231": "CLAUDIN 8; CLDN8", "OMIM:611232": "CLAUDIN 12; CLDN12", "OMIM:611233": "ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS-LIKE 1; ARMETL1", "OMIM:611234": "LRAT DOMAIN-CONTAINING PROTEIN 1; LRATD1", "OMIM:611235": "TRANSMEMBRANE PROTEIN 38A; TMEM38A", "OMIM:611236": "TRANSMEMBRANE PROTEIN 38B; TMEM38B", "OMIM:611237": "BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9", "OMIM:611238": "COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 7; CHCHD7", "OMIM:611239": "GPRIN FAMILY, MEMBER 1; GPRIN1", "OMIM:611240": "GPRIN FAMILY, MEMBER 2; GPRIN2", "OMIM:611241": "GPRIN FAMILY, MEMBER 3; GPRIN3", "OMIM:611242": "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5; RLS5", "OMIM:611243": "tRNA YW-SYNTHESIZING PROTEIN 1 HOMOLOG; TYW1", "OMIM:611244": "tRNA METHYLTRANSFERASE 12 HOMOLOG; TRMT12", "OMIM:611245": "tRNA YW-SYNTHESIZING PROTEIN 3 HOMOLOG; TYW3", "OMIM:611246": "LEUCINE CARBOXYL METHYLTRANSFERASE 2; LCMT2", "OMIM:611247": "MAJOR AFFECTIVE DISORDER 4; MAFD4", "OMIM:611248": "KELCH DOMAIN-CONTAINING PROTEIN 3; KLHDC3", "OMIM:611249": "MICRO RNA LET7B; MIRLET7B", "OMIM:611250": "MICRO RNA LET7E; MIRLET7E", "OMIM:611251": "DISPATCHED RND TRANSPORTER FAMILY, MEMBER 3; DISP3", "OMIM:611253": "KINESIN FAMILY MEMBER 27; KIF27", "OMIM:611254": "KINESIN FAMILY MEMBER 7; KIF7", "OMIM:611255": "NADPH OXIDASE ACTIVATOR 1; NOXA1", "OMIM:611256": "NADPH OXIDASE ORGANIZER 1; NOXO1", "OMIM:611257": "TRANSMEMBRANE PROTEIN 132D; TMEM132D", "OMIM:611258": "TUDOR DOMAIN-CONTAINING PROTEIN 7; TDRD7", "OMIM:611259": "CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1", "OMIM:611260": "THREONINE SYNTHASE-LIKE 1; THNSL1", "OMIM:611261": "THREONINE SYNTHASE-LIKE 2; THNSL2", "OMIM:611262": "DEOXYHYPUSINE HYDROXYLASE; DOHH", "OMIM:611264": "CENTROMERIC PROTEIN W; CENPW", "OMIM:611265": "PEROXISOMAL PROLIFERATOR-ACTIVATED RECEPTOR ALPHA-INTERACTING COFACTOR COMPLEX, 285-KD SUBUNIT", "OMIM:611266": "POTE ANKYRIN DOMAIN FAMILY, MEMBER K, PSEUDOGENE; POTEKP", "OMIM:611267": "OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 1; OR51E1", "OMIM:611268": "OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 2; OR51E2", "OMIM:611269": "NUCLEOLAR PROTEIN WITH MIF4G DOMAIN 1; NOM1", "OMIM:611270": "NSF ATTACHMENT PROTEIN BETA; NAPB", "OMIM:611271": "KINESIN FAMILY MEMBER 18A; KIF18A", "OMIM:611272": "ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 5; ZKSCAN5", "OMIM:611273": "SKI FAMILY TRANSCRIPTIONAL COREPRESSOR 1; SKOR1", "OMIM:611274": "GLAUCOMA 1, OPEN ANGLE, N; GLC1N", "OMIM:611275": "BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2-LIKE; BNIPL", "OMIM:611276": "GLAUCOMA 1, OPEN ANGLE, H; GLC1H", "OMIM:611278": "KINESIN FAMILY MEMBER 12; KIF12", "OMIM:611279": "KINESIN FAMILY MEMBER 14; KIF14", "OMIM:611280": "KELCH DOMAIN-CONTAINING PROTEIN 2; KLHDC2", "OMIM:611281": "KELCH DOMAIN-CONTAINING PROTEIN 1; KLHDC1", "OMIM:611282": "DYNAMIN-BINDING PROTEIN; DNMBP", "OMIM:611285": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 5; KCTD5", "OMIM:611286": "RNA 3-PRIME-TERMINAL PHOSPHATE CYCLASE; RTCA", "OMIM:611287": "CORNICHON FAMILY AMPA RECEPTOR AUXILIARY PROTEIN 1; CNIH1", "OMIM:611288": "CORNICHON FAMILY AMPA RECEPTOR AUXILIARY PROTEIN 2; CNIH2", "OMIM:611289": "LEUCINE-RICH ALPHA-2-GLYCOPROTEIN 1; LRG1", "OMIM:611290": "NONHOMOLOGOUS END-JOINING FACTOR 1; NHEJ1", "OMIM:611291": "IMMUNODEFICIENCY 124, SEVERE COMBINED; IMD124", "OMIM:611292": "CLAVESIN 1; CLVS1", "OMIM:611293": "COILED-COIL DOMAIN-CONTAINING PROTEIN 86; CCDC86", "OMIM:611294": "ONE CUT HOMEOBOX 3; ONECUT3", "OMIM:611295": "KELCH-LIKE 24; KLHL24", "OMIM:611296": "ANNEXIN A2 RECEPTOR; ANXA2R", "OMIM:611297": "ODD-SKIPPED-RELATED TRANSCRIPTION FACTOR 2; OSR2", "OMIM:611298": "ENDOSOME-LYSOSOME-ASSOCIATED APOPTOSIS AND AUTOPHAGY REGULATOR 1; ELAPOR1", "OMIM:611299": "G2/M PHASE-SPECIFIC E3 UBIQUITIN LIGASE; G2E3", "OMIM:611300": "La RIBONUCLEOPROTEIN 6, TRANSLATIONAL REGULATOR; LARP6", "OMIM:611301": "FANCONI ANEMIA-ASSOCIATED PROTEIN, 100-KD SUBUNIT; FAAP100", "OMIM:611303": "C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A", "OMIM:611304": "LIPID DROPLET ASSEMBLY FACTOR 1; LDAF1", "OMIM:611305": "ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 3; ABLIM3", "OMIM:611306": "SCAVENGER RECEPTOR CLASS A, MEMBER 5; SCARA5", "OMIM:611308": "PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT; PHPVAD", "OMIM:611309": "DEPP1 AUTOPHAGY REGULATOR; DEPP1", "OMIM:611310": "PHOSPHOSERYL-tRNA KINASE; PSTK", "OMIM:611312": "CORNULIN; CRNN", "OMIM:611313": "ARMS2 GENE; ARMS2", "OMIM:611314": "HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2 PSEUDOGENE 46; HMGN2P46", "OMIM:611315": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 20; ZSCAN20", "OMIM:611316": "SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 8; SLC12A8", "OMIM:611317": "PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 5; PIK3R5", "OMIM:611318": "MEDIATOR COMPLEX SUBUNIT 12-LIKE; MED12L", "OMIM:611319": "INTERFERON-ALPHA-INDUCIBLE PROTEIN 27-LIKE 2; IFI27L2", "OMIM:611320": "INTERFERON-ALPHA-INDUCIBLE PROTEIN 27-LIKE 1; IFI27L1", "OMIM:611321": "CALSYNTENIN 1; CLSTN1", "OMIM:611322": "DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 2; DNAJA2", "OMIM:611323": "CALSYNTENIN 2; CLSTN2", "OMIM:611324": "CALSYNTENIN 3; CLSTN3", "OMIM:611325": "TRANSFORMING GROWTH FACTOR-BETA REGULATOR 4; TBRG4", "OMIM:611326": "CELL CYCLE PROGRESSION 1; CCPG1", "OMIM:611327": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 4; DNAJB4", "OMIM:611328": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 5; DNAJB5", "OMIM:611329": "SMALL CAJAL BODY-SPECIFIC RNA 18; SCARNA18", "OMIM:611330": "SMALL NUCLEOLAR RNA, H/ACA BOX, 12; SNORA12", "OMIM:611331": "SMALL NUCLEOLAR RNA, H/ACA BOX, 74B; SNORA74B", "OMIM:611332": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 6; DNAJB6", "OMIM:611333": "SMALL NUCLEOLAR RNA, H/ACA BOX, 3B; SNORA3B", "OMIM:611334": "SMALL NUCLEOLAR RNA, H/ACA BOX, 81; SNORA81", "OMIM:611335": "SMALL NUCLEOLAR RNA, H/ACA BOX, 5C; SNORA5C", "OMIM:611336": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 7; DNAJB7", "OMIM:611337": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 8; DNAJB8", "OMIM:611338": "AUTOPHAGY-RELATED 4B CYSTEINE PEPTIDASE; ATG4B", "OMIM:611339": "AUTOPHAGY-RELATED 4C CYSTEINE PEPTIDASE; ATG4C", "OMIM:611340": "AUTOPHAGY-RELATED 4D CYSTEINE PEPTIDASE; ATG4D", "OMIM:611341": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11", "OMIM:611342": "CHROMOSOME 9 OPEN READING FRAME 64; C9ORF64", "OMIM:611343": "IDNK GLUCONOKINASE; IDNK", "OMIM:611344": "RAS AND EF-HAND DOMAINS-CONTAINING PROTEIN; RASEF", "OMIM:611345": "INTEGRATOR COMPLEX SUBUNIT 1; INTS1", "OMIM:611346": "INTEGRATOR COMPLEX SUBUNIT 2; INTS2", "OMIM:611347": "INTEGRATOR COMPLEX SUBUNIT 3; INTS3", "OMIM:611348": "INTEGRATOR COMPLEX SUBUNIT 4; INTS4", "OMIM:611349": "INTEGRATOR COMPLEX SUBUNIT 5; INTS5", "OMIM:611350": "INTEGRATOR COMPLEX SUBUNIT 7; INTS7", "OMIM:611351": "INTEGRATOR COMPLEX SUBUNIT 8; INTS8", "OMIM:611352": "INTEGRATOR COMPLEX SUBUNIT 9; INTS9", "OMIM:611353": "INTEGRATOR COMPLEX SUBUNIT 10; INTS10", "OMIM:611354": "INTEGRATOR COMPLEX SUBUNIT 11; INTS11", "OMIM:611355": "INTEGRATOR COMPLEX SUBUNIT 12; INTS12", "OMIM:611356": "G KINASE-ANCHORING PROTEIN 1; GKAP1", "OMIM:611357": "TERMINAL NUCLEOTIDYLTRANSFERASE 5A; TENT5A", "OMIM:611358": "RING FINGER PROTEIN 135; RNF135", "OMIM:611359": "ACTIVATING MOLECULE IN BECLIN 1-REGULATED AUTOPHAGY; AMBRA1", "OMIM:611360": "FANCI GENE; FANCI", "OMIM:611361": "UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 6; UBA6", "OMIM:611362": "UBIQUITIN-CONJUGATING ENZYME E2 Z; UBE2Z", "OMIM:611365": "TRANSMEMBRANE PROTEIN 183B; TMEM183B", "OMIM:611366": "MYG1 EXONUCLEASE; MYG1", "OMIM:611367": "ASPARTYL AMINOPEPTIDASE; DNPEP", "OMIM:611368": "MAELSTROM SPERMATOGENIC TRANSPOSON SILENCER; MAEL", "OMIM:611370": "FGGY CARBOHYDRATE KINASE DOMAIN-CONTAINING PROTEIN; FGGY", "OMIM:611371": "ZINC FINGER PROTEIN 653; ZNF653", "OMIM:611372": "SMALL ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 1; SMAP1", "OMIM:611373": "LIVER-EXPRESSED ANTIMICROBIAL PEPTIDE 2; LEAP2", "OMIM:611374": "MICRO RNA 34B; MIR34B", "OMIM:611375": "MICRO RNA 34C; MIR34C", "OMIM:611378": "MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9", "OMIM:611379": "DISCO-INTERACTING PROTEIN 2 HOMOLOG B; DIP2B", "OMIM:611380": "DISCO-INTERACTING PROTEIN 2 HOMOLOG C; DIP2C", "OMIM:611381": "KALA-AZAR, SUSCEPTIBILITY TO, 2; KAZA2", "OMIM:611382": "KALA-AZAR, SUSCEPTIBILITY TO, 3; KAZA3", "OMIM:611384": "PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1", "OMIM:611386": "ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX; ADNP", "OMIM:611387": "CXC CHEMOKINE LIGAND 17; CXCL17", "OMIM:611388": "DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL, INTERACTING PROTEIN 1; DNTTIP1", "OMIM:611389": "PRICKLE PLANAR CELL POLARITY PROTEIN 4; PRICKLE4", "OMIM:611392": "2-AMINOETHANETHIOL DIOXYGENASE; ADO", "OMIM:611393": "FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER A; FAM110A", "OMIM:611394": "FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER B; FAM110B", "OMIM:611395": "FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER C; FAM110C", "OMIM:611396": "ADIPOGENIN; ADIG", "OMIM:611397": "TETRATRICOPEPTIDE REPEAT-, ANKYRIN REPEAT-, AND COILED-COIL-CONTAINING PROTEIN 1; TANC1", "OMIM:611398": "GROWTH ARREST-SPECIFIC 2-LIKE 2; GAS2L2", "OMIM:611399": "SODIUM CHANNEL AND CLATHRIN LINKER 1; SCLT1", "OMIM:611400": "HOX TRANSCRIPT ANTISENSE RNA, NONCODING; HOTAIR", "OMIM:611401": "CHROMOSOME 6 OPEN READING FRAME 15; C6ORF15", "OMIM:611402": "DOCKING PROTEIN 6; DOK6", "OMIM:611403": "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6", "OMIM:611404": "LYMPHOCYTE ANTIGEN 6 FAMILY, MEMBER G6F; LY6G6F", "OMIM:611405": "RNA TERMINAL PHOSPHATE CYCLASE-LIKE 1; RCL1", "OMIM:611406": "DYNEIN, CYTOPLASMIC 1, LIGHT INTERMEDIATE CHAIN 2; DYNC1LI2", "OMIM:611408": "LEBERILIN LCA5; LCA5", "OMIM:611409": "OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN; OCA2", "OMIM:611410": "RHO FAMILY-INTERACTING CELL POLARIZATION REGULATOR 2; RIPOR2", "OMIM:611411": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE KINASE 1, ALPHA; CAMKK1", "OMIM:611412": "N-ACETYLNEURAMINATE PYRUVATE LYASE; NPL", "OMIM:611413": "DISCS LARGE-ASSOCIATED PROTEIN 3; DLGAP3", "OMIM:611414": "CALRETICULIN 3; CALR3", "OMIM:611415": "POLYMERASE (DNA-DIRECTED), DELTA 3, ACCESSORY SUBUNIT; POLD3", "OMIM:611416": "TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 3; TOX3", "OMIM:611417": "SMALL G PROTEIN SIGNALING MODULATOR 1; SGSM1", "OMIM:611418": "SMALL G PROTEIN SIGNALING MODULATOR 2; SGSM2", "OMIM:611419": "SMALL INTEGRAL MEMBRANE PROTEIN 29; SMIM29", "OMIM:611420": "CDKN1A-INTERACTING ZINC FINGER PROTEIN 1; CIZ1", "OMIM:611421": "SNF2-RELATED CBP ACTIVATOR PROTEIN; SRCAP", "OMIM:611422": "MEIOTIC NUCLEAR DIVISIONS 1; MND1", "OMIM:611423": "CENTROSOMAL PROTEIN, 135-KD; CEP135", "OMIM:611424": "ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 19; ZMYND19", "OMIM:611425": "CENTROBIN, CENTRIOLE DUPLICATION AND SPINDLE ASSEMBLY PROTEIN; CNTROB", "OMIM:611426": "TENTED EYEBROWS", "OMIM:611427": "METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1-LIKE, NADP(+)-DEPENDENT; MTHFD1L", "OMIM:611428": "DOWNSTREAM NEIGHBOR OF SON; DONSON", "OMIM:611429": "APRG1 TUMOR SUPPRESSOR CANDIDATE; APRG1", "OMIM:611430": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21A; TTC21A", "OMIM:611432": "DEDICATOR OF CYTOKINESIS 8; DOCK8", "OMIM:611433": "SERINE/THREONINE/TYROSINE KINASE 1; STYK1", "OMIM:611434": "CYTOKINE-DEPENDENT HEMATOPOIETIC CELL LINKER; CLNK", "OMIM:611435": "DOCKING PROTEIN 3; DOK3", "OMIM:611436": "CARBONIC ANHYDRASE XIII; CA13", "OMIM:611437": "DUAL-SPECIFICITY PHOSPHATASE 19; DUSP19", "OMIM:611438": "TAXILIN, BETA; TXLNB", "OMIM:611439": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 22; ZBTB22", "OMIM:611440": "WD REPEAT-CONTAINING PROTEIN 46; WDR46", "OMIM:611441": "DOUBLE HOMEOBOX PROTEIN 1; DUX1", "OMIM:611442": "DOUBLE HOMEOBOX PROTEIN 2; DUX2", "OMIM:611443": "DOUBLE HOMEOBOX PROTEIN 3; DUX3", "OMIM:611444": "DOUBLE HOMEOBOX PROTEIN 5; DUX5", "OMIM:611445": "DYNAMIN 3; DNM3", "OMIM:611446": "DUAL-SPECIFICITY PHOSPHATASE 18; DUSP18", "OMIM:611447": "Y BOX-BINDING PROTEIN 2; YBX2", "OMIM:611448": "BMS1 RIBOSOME BIOGENESIS FACTOR; BMS1", "OMIM:611449": "EXPORTIN 4; XPO4", "OMIM:611450": "PXK DOMAIN-CONTAINING SERINE/THREONINE KINASE; PXK", "OMIM:611453": "DYSBINDIN DOMAIN-CONTAINING PROTEIN 2; DBNDD2", "OMIM:611455": "KINOCILIN; KNCN", "OMIM:611456": "TREMOR, HEREDITARY ESSENTIAL, 3; ETM3", "OMIM:611457": "FORKHEAD BOX O6; FOXO6", "OMIM:611458": "GALACTOSIDASE, BETA-1; GLB1", "OMIM:611459": "SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 7; SLC10A7", "OMIM:611460": "TUMOR PROTEIN p63-REGULATED PROTEIN 1-LIKE; TPRG1L", "OMIM:611461": "SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 17; SLC22A17", "OMIM:611462": "PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 6; PIK3R6", "OMIM:611463": "SPERMIDINE/SPERMINE N1-ACETYLTRANSFERASE 2; SAT2", "OMIM:611464": "MON1 HOMOLOG A, SECRETORY TRAFFICKING-ASSOCIATED; MON1A", "OMIM:611466": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1; PLEKHM1", "OMIM:611467": "GUANYLATE-BINDING PROTEIN 5: GBP5", "OMIM:611468": "BDNF ANTISENSE RNA; BDNFAS", "OMIM:611469": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2", "OMIM:611470": "GLUTAMATE-AMMONIA LIGASE (GLUTAMINE SYNTHETASE) DOMAIN-CONTAINING 1; GLULD1", "OMIM:611471": "ACID PHOSPHATASE 6, LYSOPHOSPHATIDE; ACP6", "OMIM:611472": "METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5", "OMIM:611473": "EMBRYONIC STEM CELL-RELATED PROTEIN; ESRG", "OMIM:611474": "PHOSPHOLIPASE A AND ACYLTRANSFERASE 5; PLAAT5", "OMIM:611475": "RNA POLYMERASE II-ASSOCIATED PROTEIN 1; RPAP1", "OMIM:611476": "RNA POLYMERASE II-ASSOCIATED PROTEIN 2; RPAP2", "OMIM:611477": "RNA POLYMERASE II-ASSOCIATED PROTEIN 3; RPAP3", "OMIM:611478": "METHYLPHOSPHATE CAPPING ENZYME; MEPCE", "OMIM:611479": "XPA-BINDING PROTEIN 1; XAB1", "OMIM:611480": "PIH1 DOMAIN-CONTAINING PROTEIN 1; PIH1D1", "OMIM:611481": "UFM1-SPECIFIC PEPTIDASE 1; UFSP1", "OMIM:611482": "UFM1-SPECIFIC PEPTIDASE 2; UFSP2", "OMIM:611483": "YIP1 DOMAIN FAMILY, MEMBER 5; YIPF5", "OMIM:611484": "YIP1-INTERACTING FACTOR HOMOLOG A, MEMBRANE-TRAFFICKING PROTEIN; YIF1A", "OMIM:611485": "CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12", "OMIM:611486": "SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1; SYCE1", "OMIM:611487": "SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 2; SYCE2", "OMIM:611488": "MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10", "OMIM:611491": "RAS ASSOCIATION AND DILUTE DOMAINS PROTEIN; RADIL", "OMIM:611492": "CARBONIC ANHYDRASE II; CA2", "OMIM:611495": "CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22; CYP4F22", "OMIM:611496": "GATA-BINDING PROTEIN 5; GATA5", "OMIM:611499": "BETA-GLUCURONIDASE; GUSB", "OMIM:611500": "MICRO RNA 219-1; MIR219-1", "OMIM:611501": "CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1; CAMTA1", "OMIM:611502": "CENTROMERIC PROTEIN K; CENPK", "OMIM:611503": "CENTROMERIC PROTEIN L; CENPL", "OMIM:611504": "CENTROMERIC PROTEIN O; CENPO", "OMIM:611505": "CENTROMERIC PROTEIN P; CENPP", "OMIM:611506": "CENTROMERIC PROTEIN Q; CENPQ", "OMIM:611507": "CDGSH IRON SULFUR DOMAIN PROTEIN 2; CISD2", "OMIM:611508": "CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 2; CAMTA2", "OMIM:611509": "CENTROMERIC PROTEIN N; CENPN", "OMIM:611510": "CENTROMERIC PROTEIN T; CENPT", "OMIM:611511": "MLF1-INTERACTING PROTEIN; MLF1IP", "OMIM:611512": "LYSINE DEMETHYLASE 3A; KDM3A", "OMIM:611513": "NEUROGENIC DIFFERENTIATION 6; NEUROD6", "OMIM:611514": "WNT LIGAND SECRETION MEDIATOR; WLS", "OMIM:611515": "FEBRILE SEIZURES, FAMILIAL, 7; FEB7", "OMIM:611516": "NICOLIN 1; NICN1", "OMIM:611517": "CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11", "OMIM:611518": "DEDICATOR OF CYTOKINESIS 10; DOCK10", "OMIM:611519": "POLYMERASE DELTA-INTERACTING PROTEIN 2; POLDIP2", "OMIM:611520": "POLYMERASE DELTA-INTERACTING PROTEIN 3; POLDIP3", "OMIM:611522": "INTRAOCULAR PRESSURE QUANTITATIVE TRAIT LOCUS; IOPQTL", "OMIM:611524": "ARGINYL-tRNA SYNTHETASE 2; RARS2", "OMIM:611525": "POLYMERASE (DNA-DIRECTED), DELTA 4; POLD4", "OMIM:611526": "NOP14 NUCLEOLAR PROTEIN; NOP14", "OMIM:611527": "Na+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 1; NHEDC1", "OMIM:611529": "CYTOCHROME P450, FAMILY 2, SUBFAMILY S, POLYPEPTIDE 1; CYP2S1", "OMIM:611530": "NEUROLYSIN; NLN", "OMIM:611531": "EMG1 N1-SPECIFIC PSEUDOURIDINE METHYLTRANSFERASE; EMG1", "OMIM:611532": "NUCLEOLAR PROTEIN 6; NOL6", "OMIM:611533": "NUCLEOLAR PROTEIN 7; NOL7", "OMIM:611534": "NUCLEOLAR PROTEIN 8; NOL8", "OMIM:611535": "MAJOR AFFECTIVE DISORDER 5; MAFD5", "OMIM:611536": "MAJOR AFFECTIVE DISORDER 6; MAFD6", "OMIM:611537": "CATENIN, BETA-LIKE, 1; CTNNBL1", "OMIM:611538": "OLFACTORY RECEPTOR, FAMILY 7, SUBFAMILY D, MEMBER 4; OR7D4", "OMIM:611539": "FORKHEAD BOX D3; FOXD3", "OMIM:611540": "SH3-DOMAIN GRB2-LIKE (ENDOPHILIN)-INTERACTING PROTEIN 1; SGIP1", "OMIM:611541": "SORTING NEXIN 27; SNX27", "OMIM:611542": "ARYLSULFATASE B; ARSB", "OMIM:611545": "CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 8; CYP4F8", "OMIM:611546": "ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6", "OMIM:611547": "STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9", "OMIM:611549": "SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN", "OMIM:611550": "NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3", "OMIM:611551": "FIBULIN 7; FBLN7", "OMIM:611552": "NICOTINATE PHOSPHORIBOSYLTRANSFERASE; NAPRT", "OMIM:611555": "RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DISTINCTIVE FACIES", "OMIM:611557": "UROPLAKIN 1A; UPK1A", "OMIM:611558": "UROPLAKIN 2; UPK2", "OMIM:611559": "UROPLAKIN 3A; UPK3A", "OMIM:611562": "SEPTIN 12; SEPTIN12", "OMIM:611563": "SEPTIN 13; SEPT13", "OMIM:611564": "BTG3-ASSOCIATED NUCLEAR PROTEIN; BANP", "OMIM:611565": "BRIDGE-LIKE LIPID TRANSFER PROTEIN FAMILY, MEMBER 1; BLTP1", "OMIM:611566": "PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 1-LIKE 1; PRPS1L1", "OMIM:611567": "MONO-ADP RIBOSYLHYDROLASE 2; MACROD2", "OMIM:611568": "SYNTABULIN; SYBU", "OMIM:611569": "CYTOSKELETON-ASSOCIATED PROTEIN 2; CKAP2", "OMIM:611570": "FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1", "OMIM:611573": "SPHINGOMYELIN SYNTHASE 1; SGMS1", "OMIM:611574": "SPHINGOMYELIN SYNTHASE 2; SGMS2", "OMIM:611575": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 8; SAMD8", "OMIM:611576": "MICRO RNA 10B; MIR10B", "OMIM:611577": "LYSINE DEMETHYLASE 6B; KDM6B", "OMIM:611578": "FERRIC CHELATE REDUCTASE 1; FRRS1", "OMIM:611579": "TRANSMEMBRANE PROTEIN 114; TMEM114", "OMIM:611580": "EPIDIDYMAL PROTEIN 3A; EDDM3A", "OMIM:611582": "FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B", "OMIM:611583": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5A; ARID5A", "OMIM:611585": "TESCALCIN; TESC", "OMIM:611586": "COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 1; C1QL1", "OMIM:611587": "RHO GTPase-ACTIVATING PROTEIN 19; ARHGAP19", "OMIM:611589": "PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 5; PNPLA5", "OMIM:611591": "PRO-PLATELET BASIC PROTEIN PSEUDOGENE 2; PPBPP2", "OMIM:611592": "PHENYLALANYL-tRNA SYNTHETASE 2, MITOCHONDRIAL; FARS2", "OMIM:611593": "SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 3B; SMR3B", "OMIM:611594": "UBIQUITIN-SPECIFIC PROTEASE 39; USP39", "OMIM:611595": "THIOREDOXIN-LIKE 4A; TXNL4A", "OMIM:611596": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4; DHRS4", "OMIM:611598": "CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6", "OMIM:611599": "MICRO RNA 206; MIR206", "OMIM:611600": "PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 3; RIMS3", "OMIM:611601": "PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 4; RIMS4", "OMIM:611602": "RIMS-BINDING PROTEIN 2; RIMBP2", "OMIM:611604": "ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 1; ERLIN1", "OMIM:611605": "ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 2; ERLIN2", "OMIM:611606": "MICRO RNA 96; MIR96", "OMIM:611607": "MICRO RNA 182; MIR182", "OMIM:611608": "MICRO RNA 183; MIR183", "OMIM:611609": "SIPA1-LIKE PROTEIN 2; SIPA1L2", "OMIM:611610": "PHOSPHOGLUCOMUTASE 2-LIKE 1; PGM2L1", "OMIM:611611": "S-PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM; SCAPER", "OMIM:611612": "THIAMINE TRIPHOSPHATASE; THTPA", "OMIM:611613": "PROTEIN O-GLUCOSYLTRANSFERASE 2; POGLUT2", "OMIM:611614": "UTP3 SMALL SUBUNIT PROCESSOME COMPONENT; UTP3", "OMIM:611616": "NAD KINASE; NADK", "OMIM:611617": "EF-HAND DOMAIN FAMILY, MEMBER D1; EFHD1", "OMIM:611619": "MICRO RNA 877; MIR877", "OMIM:611620": "MICRO RNA 1224; MIR1224", "OMIM:611621": "MICRO RNA 1225; MIR1225", "OMIM:611622": "IQ MOTIF-CONTAINING PROTEIN J; IQCJ", "OMIM:611623": "NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 1; NECAP1", "OMIM:611624": "NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 2; NECAP2", "OMIM:611625": "GID COMPLEX, SUBUNIT 8; GID8", "OMIM:611626": "M-PHASE PHOSPHOPROTEIN 8; MPHOSPH8", "OMIM:611627": "TLC DOMAIN-CONTAINING PROTEIN 3A; TLCD3A", "OMIM:611628": "NEURON NAVIGATOR 1; NAV1", "OMIM:611629": "NEURON NAVIGATOR 3; NAV3", "OMIM:611632": "UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1", "OMIM:611633": "RTF1 HOMOLOG, PAF1/RNA POLYMERASE II COMPLEX COMPONENT; RTF1", "OMIM:611635": "NEUROGENIC DIFFERENTIATION 4; NEUROD4", "OMIM:611636": "N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE 2; NAALAD2", "OMIM:611639": "ZINC FINGER GATA-LIKE PROTEIN 1; ZGLP1", "OMIM:611640": "FIBRONECTIN TYPE III AND ANKYRIN REPEAT DOMAINS 1; FANK1", "OMIM:611641": "CANCER SUSCEPTIBILITY GENE HEPN1; HEPN1", "OMIM:611642": "HEPATOCYTE CELL ADHESION MOLECULE; HEPACAM", "OMIM:611643": "ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 4; ZKSCAN4", "OMIM:611644": "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9", "OMIM:611645": "CXXC FINGER PROTEIN 4; CXXC4", "OMIM:611646": "SPHK1-INTERACTING PROTEIN; SPHKAP", "OMIM:611647": "ARV1 HOMOLOG, FATTY ACID HOMEOSTASIS MODULATOR; ARV1", "OMIM:611648": "DIPHOSPHOINOSITOL PENTAKISPHOSPHATE KINASE 2; PPIP5K2", "OMIM:611649": "MINDY LYSINE-48 DEUBIQUITINASE 3; MINDY3", "OMIM:611650": "PERIPAPILLARY ATROPHY, BETA TYPE; PPAB", "OMIM:611651": "PHOSPHOLIPASE A2, GROUP III; PLA2G3", "OMIM:611652": "PHOSPHOLIPASE A2, GROUP XIIA; PLA2G12A", "OMIM:611653": "PHOSPHOLIPASE A2, GROUP XIIB; PLA2G12B", "OMIM:611654": "CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1", "OMIM:611655": "POST-GPI ATTACHMENT TO PROTEINS 1; PGAP1", "OMIM:611656": "SUPPRESSOR OF IKBKE 1; SIKE1", "OMIM:611657": "SPRY DOMAIN- AND SOCS BOX-CONTAINING 1; SPSB1", "OMIM:611658": "SPRY DOMAIN- AND SOCS BOX-CONTAINING 2; SPSB2", "OMIM:611659": "SPRY DOMAIN- AND SOCS BOX-CONTAINING 3; SPSB3", "OMIM:611660": "SPRY DOMAIN- AND SOCS BOX-CONTAINING 4; SPSB4", "OMIM:611661": "DBF4 ZINC FINGER B; DBF4B", "OMIM:611662": "EOSINOPHIL GRANULE ONTOGENY TRANSCRIPT, NONCODING; EGOT", "OMIM:611663": "TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20", "OMIM:611664": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7", "OMIM:611665": "DEAD-BOX HELICASE 54; DDX54", "OMIM:611666": "PHOSPHOLIPID PHOSPHATASE 6; PLPP6", "OMIM:611667": "SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2; SPATS2", "OMIM:611668": "CORONIN 7; CORO7", "OMIM:611669": "tRNA METHYLTRANSFERASE 1; TRMT1", "OMIM:611670": "INOSITOL-3-PHOSPHATE SYNTHASE 1; ISYNA1", "OMIM:611671": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Z PROTEIN; PIGZ", "OMIM:611672": "SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1", "OMIM:611673": "tRNA METHYLTRANSFERASE 1-LIKE; TRMT1L", "OMIM:611674": "X KELL BLOOD GROUP PRECURSOR-RELATED FAMILY, MEMBER 3; XKR3", "OMIM:611675": "KIAA0513 GENE; KIAA0513", "OMIM:611676": "PHOSDUCIN-LIKE 2; PDCL2", "OMIM:611677": "OLFACTORY RECEPTOR, FAMILY 13, SUBFAMILY G, MEMBER 1; OR13G1", "OMIM:611678": "PHOSDUCIN-LIKE 3; PDCL3", "OMIM:611679": "F-BOX AND WD40 DOMAIN PROTEIN 10; FBXW10", "OMIM:611680": "CHROMOSOME 1 OPEN READING FRAME 116; C1ORF116", "OMIM:611681": "A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 20; ADAMTS20", "OMIM:611682": "LIPOPROTEIN(a)-LIKE 2; LPAL2", "OMIM:611683": "FRUCTOSAMINE 3-KINASE-RELATED PROTEIN", "OMIM:611684": "SPLICEOSOME-ASSOCIATED FACTOR 3, U4/U6 RECYCLING PROTEIN; SART3", "OMIM:611685": "RING FINGER PROTEIN 8; RNF8", "OMIM:611686": "CAS1 DOMAIN-CONTAINING PROTEIN 1; CASD1", "OMIM:611687": "KHDC3-LIKE PROTEIN, SUBCORTICAL MATERNAL COMPLEX MEMBER; KHDC3L", "OMIM:611688": "KH DOMAIN-CONTAINING PROTEIN 1; KHDC1", "OMIM:611689": "OOCYTE-EXPRESSED PROTEIN; OOEP", "OMIM:611690": "PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 4; PRRG4", "OMIM:611691": "SUSHI, VON WILLEBRAND FACTOR TYPE A, EGF, AND PENTRAXIN DOMAINS-CONTAINING 1; SVEP1", "OMIM:611692": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 34; ZBTB34", "OMIM:611693": "COXSACKIEVIRUS- AND ADENOVIRUS RECEPTOR-LIKE MEMBRANE PROTEIN; CLMP", "OMIM:611695": "TAU TUBULIN KINASE 2; TTBK2", "OMIM:611696": "SOLUTE CARRIER FAMILY 22, MEMBER 20; SLC22A20", "OMIM:611697": "SOLUTE CARRIER FAMILY 22, MEMBER 23; SLC22A23", "OMIM:611698": "SOLUTE CARRIER FAMILY 22, MEMBER 24; SLC22A24", "OMIM:611699": "SV2-RELATED PROTEIN; SVOP", "OMIM:611700": "SV2-RELATED PROTEIN-LIKE; SVOPL", "OMIM:611701": "SPHINGOLIPID TRANSPORTER 3; SPNS3", "OMIM:611702": "SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE", "OMIM:611703": "ZINC FINGER PROTEIN 436; ZNF436", "OMIM:611704": "TRANSMEMBRANE PROTEASE, SERINE 11A; TMPRSS11A", "OMIM:611707": "MYELIN PROTEIN ZERO-LIKE 3; MPZL3", "OMIM:611708": "MICRO RNA 431; MIR431", "OMIM:611709": "MICRO RNA 127; MIR127", "OMIM:611710": "MICRO RNA 136; MIR136", "OMIM:611711": "MICRO RNA 433; MIR433", "OMIM:611712": "HOMEODOMAIN-INTERACTING PROTEIN KINASE 4; HIPK4", "OMIM:611713": "DYNEIN, LIGHT CHAIN, TCTEX-TYPE 4; DYNLT4", "OMIM:611714": "GTPase-ACTIVATING PROTEIN AND VPS9 DOMAINS 1; GAPVD1", "OMIM:611715": "STEROID 5-ALPHA-REDUCTASE 3; SRD5A3", "OMIM:611716": "ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2", "OMIM:611720": "INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN LIKE; IRF2BPL", "OMIM:611723": "CHROMOSOME 21 OPEN READING FRAME 24; C21ORF24", "OMIM:611724": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8", "OMIM:611725": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 7; KCTD7", "OMIM:611727": "FAMILY WITH SEQUENCE SIMILARITY 163, MEMBER A; FAM163A", "OMIM:611728": "PROLINE-RICH PROTEIN 5-LIKE; PRR5L", "OMIM:611729": "KINESIN LIGHT CHAIN 2; KLC2", "OMIM:611730": "ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 5; EPB41L5", "OMIM:611731": "APC REGULATOR OF WNT SIGNALING PATHWAY; APC", "OMIM:611732": "MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; MBOAT1", "OMIM:611733": "DAUWERSE-PETERS SYNDROME", "OMIM:611734": "WD REPEAT-CONTAINING PROTEIN 77; WDR77", "OMIM:611735": "CUB DOMAIN-CONTAINING PROTEIN 1; CDCP1", "OMIM:611736": "GREB1 PROTEIN", "OMIM:611737": "SEPTIN 10; SEPTIN10", "OMIM:611738": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7", "OMIM:611739": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8; BMND8", "OMIM:611740": "BETA-CAROTENE OXYGENASE 2; BCO2", "OMIM:611741": "ACID-SENSING ION CHANNEL, SUBUNIT 3; ASIC3", "OMIM:611742": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9", "OMIM:611743": "PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G6; PLEKHG6", "OMIM:611744": "OTU DOMAIN-CONTAINING PROTEIN 4; OTUD4", "OMIM:611745": "VCP/p47 COMPLEX-INTERACTING PROTEIN 1; VCPIP1", "OMIM:611746": "SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 1; SCUBE1", "OMIM:611747": "SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 2; SCUBE2", "OMIM:611748": "OTU DOMAIN-CONTAINING PROTEIN 7B; OTUD7B", "OMIM:611749": "ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 1; ZRANB1", "OMIM:611750": "SYNCOILIN 1; SYNC1", "OMIM:611751": "THUMP DOMAIN-CONTAINING PROTEIN 2; THUMPD2", "OMIM:611752": "ECRG4 AUGURIN PRECURSOR; ECRG4", "OMIM:611753": "VACUOLE MEMBRANE PROTEIN 1; VMP1", "OMIM:611754": "ALPHA-AMINOADIPATE AMINOTRANSFERASE; AADAT", "OMIM:611756": "RHOPHILIN ASSOCIATED TAIL PROTEIN 1-LIKE; ROPN1L", "OMIM:611757": "RHOPHILIN-ASSOCIATED TAIL PROTEIN 1; ROPN1", "OMIM:611758": "OTU DOMAIN-CONTAINING PROTEIN 3; OTUD3", "OMIM:611759": "STARD3 N-TERMINAL-LIKE; STARD3NL", "OMIM:611760": "PROTOCADHERIN 17; PCDH17", "OMIM:611761": "LIPASE MATURATION FACTOR 1; LMF1", "OMIM:611763": "LBH REGULATOR OF WNT SIGNALING PATHWAY; LBH", "OMIM:611764": "CORNIFELIN; CNFN", "OMIM:611765": "ASPARTIC PEPTIDASE, RETROVIRAL-LIKE 1; ASPRV1", "OMIM:611766": "MITOCHONDRIAL METHIONYL-tRNA FORMYLTRANSFERASE; MTFMT", "OMIM:611767": "MICRO RNA 126; MIR126", "OMIM:611768": "MICRO RNA 335; MIR335", "OMIM:611769": "MICRO RNA 128-2; MIR128-2", "OMIM:611770": "NK2 HOMEOBOX 6; NKX2-6", "OMIM:611772": "NUF2 COMPONENT OF NDC80 KINETOCHORE COMPLEX; NUF2", "OMIM:611774": "MICRO RNA 128-1; MIR128-1", "OMIM:611775": "KAWASAKI DISEASE", "OMIM:611776": "NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 4; NDUFAF4", "OMIM:611778": "GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1-LIKE; GPD1L", "OMIM:611779": "FIBROUS SHEATH CABYR-BINDING PROTEIN; FSCB", "OMIM:611780": "PHD AND RING FINGER DOMAIN-CONTAINING PROTEIN 1; PHRF1", "OMIM:611781": "PR DOMAIN-CONTAINING PROTEIN 14; PRDM14", "OMIM:611782": "DOWN SYNDROME CELL ADHESION MOLECULE-LIKE 1; DSCAML1", "OMIM:611784": "GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 6; GTF3C6", "OMIM:611785": "ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 5; ABCB5", "OMIM:611786": "MEDIATOR OF CELL MOTILITY 1; MEMO1", "OMIM:611787": "CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 2, MITOCHONDRIAL; CMPK2", "OMIM:611789": "NA+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 2; NHEDC2", "OMIM:611790": "MYOSIN VIIA- AND RAB-INTERACTING PROTEIN; MYRIP", "OMIM:611791": "PATCHED DOMAIN-CONTAINING PROTEIN 3; PTCHD3", "OMIM:611792": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 4; ZCCHC4", "OMIM:611793": "LSM12, S. CEREVISIAE, HOMOLOG OF; LSM12", "OMIM:611794": "MICRO RNA 369; MIR369", "OMIM:611795": "MICRO RNA 145; MIR145", "OMIM:611796": "SECRETOGRANIN III; SCG3", "OMIM:611797": "UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 1; UQCC1", "OMIM:611798": "EFR3 HOMOLOG A; EFR3A", "OMIM:611799": "LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL", "OMIM:611800": "THADA ARMADILLO REPEAT-CONTAINING PROTEIN; THADA", "OMIM:611801": "POST-GPI ATTACHMENT TO PROTEINS 3; PGAP3", "OMIM:611802": "MIGRATION AND INVASION ENHANCER 1; MIEN1", "OMIM:611803": "INTEGRIN-ALPHA FG-GAP REPEAT-CONTAINING PROTEIN 1; ITFG1", "OMIM:611805": "ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 5; ELOVL5", "OMIM:611806": "ARSENIC (+3 OXIDATION STATE) METHYLTRANSFERASE; AS3MT", "OMIM:611807": "TIP41-LIKE PROTEIN; TIPRL", "OMIM:611810": "USH1C-BINDING PROTEIN 1; USHBP1", "OMIM:611811": "ZINC FINGER PROTEIN 333; ZNF333", "OMIM:611813": "ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 1; ELOVL1", "OMIM:611814": "ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 2; ELOVL2", "OMIM:611815": "ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 3; ELOVL3", "OMIM:611817": "KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY K, MEMBER 1; KLRK1", "OMIM:611821": "MITOCHONDRIAL RIBOSOMAL PROTEIN L1; MRPL1", "OMIM:611822": "MITOCHONDRIAL RIBOSOMAL PROTEIN L2; MRPL2", "OMIM:611823": "MITOCHONDRIAL RIBOSOMAL PROTEIN L4; MRPL4", "OMIM:611824": "MITOCHONDRIAL RIBOSOMAL PROTEIN L9; MRPL9", "OMIM:611825": "MITOCHONDRIAL RIBOSOMAL PROTEIN L10; MRPL10", "OMIM:611826": "MITOCHONDRIAL RIBOSOMAL PROTEIN L11; MRPL11", "OMIM:611827": "MITOCHONDRIAL RIBOSOMAL PROTEIN L14; MRPL14", "OMIM:611828": "MITOCHONDRIAL RIBOSOMAL PROTEIN L15; MRPL15", "OMIM:611829": "MITOCHONDRIAL RIBOSOMAL PROTEIN L16; MRPL16", "OMIM:611830": "MITOCHONDRIAL RIBOSOMAL PROTEIN L17; MRPL17", "OMIM:611831": "MITOCHONDRIAL RIBOSOMAL PROTEIN L18; MRPL18", "OMIM:611832": "MITOCHONDRIAL RIBOSOMAL PROTEIN L19; MRPL19", "OMIM:611833": "MITOCHONDRIAL RIBOSOMAL PROTEIN L20; MRPL20", "OMIM:611834": "MITOCHONDRIAL RIBOSOMAL PROTEIN L21; MRPL21", "OMIM:611835": "MITOCHONDRIAL RIBOSOMAL PROTEIN L22; MRPL22", "OMIM:611836": "MITOCHONDRIAL RIBOSOMAL PROTEIN L24; MRPL24", "OMIM:611837": "MITOCHONDRIAL RIBOSOMAL PROTEIN L27; MRPL27", "OMIM:611838": "MITOCHONDRIAL RIBOSOMAL PROTEIN L30; MRPL30", "OMIM:611839": "MITOCHONDRIAL RIBOSOMAL PROTEIN L32; MRPL32", "OMIM:611840": "MITOCHONDRIAL RIBOSOMAL PROTEIN L34; MRPL34", "OMIM:611841": "MITOCHONDRIAL RIBOSOMAL PROTEIN L35; MRPL35", "OMIM:611842": "MITOCHONDRIAL RIBOSOMAL PROTEIN L36; MRPL36", "OMIM:611843": "MITOCHONDRIAL RIBOSOMAL PROTEIN L37; MRPL37", "OMIM:611844": "MITOCHONDRIAL RIBOSOMAL PROTEIN L38; MRPL38", "OMIM:611845": "MITOCHONDRIAL RIBOSOMAL PROTEIN L39; MRPL39", "OMIM:611846": "MITOCHONDRIAL RIBOSOMAL PROTEIN L41; MRPL41", "OMIM:611847": "MITOCHONDRIAL RIBOSOMAL PROTEIN L42; MRPL42", "OMIM:611848": "MITOCHONDRIAL RIBOSOMAL PROTEIN L43; MRPL43", "OMIM:611849": "MITOCHONDRIAL RIBOSOMAL PROTEIN L44; MRPL44", "OMIM:611850": "MITOCHONDRIAL RIBOSOMAL PROTEIN L45; MRPL45", "OMIM:611851": "MITOCHONDRIAL RIBOSOMAL PROTEIN L46; MRPL46", "OMIM:611852": "MITOCHONDRIAL RIBOSOMAL PROTEIN L47; MRPL47", "OMIM:611853": "MITOCHONDRIAL RIBOSOMAL PROTEIN L48; MRPL48", "OMIM:611854": "MITOCHONDRIAL RIBOSOMAL PROTEIN L50; MRPL50", "OMIM:611855": "MITOCHONDRIAL RIBOSOMAL PROTEIN L51; MRPL51", "OMIM:611856": "MITOCHONDRIAL RIBOSOMAL PROTEIN L52; MRPL52", "OMIM:611857": "MITOCHONDRIAL RIBOSOMAL PROTEIN L53; MRPL53", "OMIM:611858": "MITOCHONDRIAL RIBOSOMAL PROTEIN L54; MRPL54", "OMIM:611859": "MITOCHONDRIAL RIBOSOMAL PROTEIN L55; MRPL55", "OMIM:611861": "ADP-DEPENDENT GLUCOKINASE; ADPGK", "OMIM:611862": "WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1", "OMIM:611864": "ARMADILLO REPEAT-CONTAINING 10; ARMC10", "OMIM:611865": "L3MBTL HISTONE METHYL-LYSINE-BINDING PROTEIN 2; L3MBTL2", "OMIM:611866": "RETINOL-BINDING PROTEIN 5; RBP5", "OMIM:611868": "PROSTATE CANCER, HEREDITARY, 12; HPC12", "OMIM:611869": "RABAPTIN, RAB GTPase-BINDING EFFECTOR PROTEIN 2; RABEP2", "OMIM:611870": "CENTLEIN; CNTLN", "OMIM:611871": "REGULATOR OF MICROTUBULE DYNAMICS 1; RMDN1", "OMIM:611872": "REGULATOR OF MICROTUBULE DYNAMICS 2; RMDN2", "OMIM:611873": "REGULATOR OF MICROTUBULE DYNAMICS 3; RMDN3", "OMIM:611874": "NEURON-DERIVED NEUROTROPHIC FACTOR; NENF", "OMIM:611877": "BAI1-ASSOCIATED PROTEIN 2-LIKE 1; BAIAP2L1", "OMIM:611882": "PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 2; PNRC2", "OMIM:611883": "BRCA2- AND CDKN1A-INTERACTING PROTEIN; BCCIP", "OMIM:611885": "SHANK-ASSOCIATED RH DOMAIN INTERACTOR; SHARPIN", "OMIM:611886": "MESOMELIC DYSPLASIA, CAMERA TYPE", "OMIM:611887": "UROPLAKIN 3B; UPK3B", "OMIM:611888": "ETS2 REPRESSOR FACTOR; ERF", "OMIM:611889": "S100P-BINDING PROTEIN; S100PBP", "OMIM:611891": "AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 3; AAA3", "OMIM:611892": "ANEURYSM, INTRACRANIAL BERRY, 6; ANIB6", "OMIM:611893": "PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G2; PLEKHG2", "OMIM:611894": "MICRO RNA 140; MIR140", "OMIM:611896": "RETROTRANSPOSON-LIKE GENE 1; RTL1", "OMIM:611897": "NANOPHTHALMOS 3; NNO3", "OMIM:611898": "ENDO-BETA-N-ACETYLGLUCOSAMINIDASE; ENGASE", "OMIM:611899": "MICRO RNA 203A; MIR203A", "OMIM:611900": "METALLOPHOSPHOESTERASE 1; MPPE1", "OMIM:611901": "VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 1; VWA1", "OMIM:611902": "COILED-COIL DOMAIN-CONTAINING PROTEIN 136; CCDC136", "OMIM:611903": "ZINC FINGER PROTEIN 649; ZNF649", "OMIM:611904": "PLACENTA-EXPRESSED TRANSCRIPT 1; PLET1", "OMIM:611905": "FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 4; FNDC4", "OMIM:611906": "FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 5; FNDC5", "OMIM:611908": "RFT1 HOMOLOG; RFT1", "OMIM:611909": "FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3B; FNDC3B", "OMIM:611910": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 12; SLC16A12", "OMIM:611911": "IRON-SULFUR CLUSTER ASSEMBLY ENZYME; ISCU", "OMIM:611912": "NUCLEAR CASEIN KINASE AND CYCLIN-DEPENDENT KINASE SUBSTRATE 1; NUCKS1", "OMIM:611914": "TSC22 DOMAIN FAMILY, MEMBER 4; TSC22D4", "OMIM:611915": "VESICULAR, OVEREXPRESSED IN CANCER, PROSURVIVAL PROTEIN 1; VOPP1", "OMIM:611916": "COLLAGEN, TYPE VI, ALPHA-5; COL6A5", "OMIM:611917": "LYSINE DEMETHYLASE 8; KDM8", "OMIM:611919": "RIBOSOMAL OXYGENASE 1; RIOX1", "OMIM:611920": "C-REACTIVE PROTEIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; CRPQTL1", "OMIM:611921": "GAP JUNCTION PROTEIN, BETA-7; GJB7", "OMIM:611922": "GAP JUNCTION PROTEIN, DELTA-4; GJD4", "OMIM:611923": "GAP JUNCTION PROTEIN, ALPHA-9; GJA9", "OMIM:611924": "GAP JUNCTION PROTEIN, ALPHA-10; GJA10", "OMIM:611925": "GAP JUNCTION PROTEIN, GAMMA-3; GJC3", "OMIM:611927": "FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER H; FAM83H", "OMIM:611928": "PROSTATE CANCER, HEREDITARY, 13; HPC13", "OMIM:611930": "INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 2; ISG20L2", "OMIM:611931": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1L; PPM1L", "OMIM:611932": "CDGSH IRON SULFUR DOMAIN PROTEIN 1; CISD1", "OMIM:611933": "CDGSH IRON SULFUR DOMAIN PROTEIN 3; CISD3", "OMIM:611934": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5", "OMIM:611935": "METABOLISM OF COBALAMIN ASSOCIATED D; MMADHC", "OMIM:611937": "IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE 3-3; IGHD3-3", "OMIM:611939": "IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE 3-23; IGHV3-23", "OMIM:611940": "MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 4; MBOAT4", "OMIM:611941": "ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 2; ATAD2", "OMIM:611942": "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6", "OMIM:611946": "UBX DOMAIN PROTEIN 6; UBXN6", "OMIM:611947": "NLR FAMILY MEMBER X1; NLRX1", "OMIM:611949": "MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 2; MBOAT2", "OMIM:611950": "LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 3; LPCAT3", "OMIM:611951": "B9 DOMAIN-CONTAINING PROTEIN 2; B9D2", "OMIM:611952": "VPS28 SUBUNIT OF ESCRT-I; VPS28", "OMIM:611954": "MICRO RNA 373; MIR373", "OMIM:611955": "PROSTATE CANCER, HEREDITARY, 11; HPC11", "OMIM:611956": "CHROMOSOME 3 OPEN READING FRAME 52; C3ORF52", "OMIM:611957": "MICRO RNA 378; MIRN378", "OMIM:611958": "PROSTATE CANCER, HEREDITARY, 14; HPC14", "OMIM:611959": "PROSTATE CANCER, HEREDITARY, 15; HPC15", "OMIM:611960": "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7", "OMIM:611963": "ACYL-CoA THIOESTERASE 7-LIKE", "OMIM:611964": "CYTOCHROME b5, TYPE B (OUTER MITOCHONDRIAL MEMBRANE); CYB5B", "OMIM:611965": "THO COMPLEX, SUBUNIT 7; THOC7", "OMIM:611966": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 9; TRAPPC9", "OMIM:611967": "KELCH-LIKE 8; KLHL8", "OMIM:611968": "CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD, TAU VARIANT; CSTF2T", "OMIM:611969": "MOB KINASE ACTIVATOR 2; MOB2", "OMIM:611970": "NUCLEOLAR PROTEIN INTERACTING WITH THE FHA DOMAIN OF MKI67; NIFK", "OMIM:611971": "MITOCHONDRIAL RIBOSOMAL PROTEIN S2; MRPS2", "OMIM:611972": "MITOCHONDRIAL RIBOSOMAL PROTEIN S5; MRPS5", "OMIM:611973": "MITOCHONDRIAL RIBOSOMAL PROTEIN S6; MRPS6", "OMIM:611974": "MITOCHONDRIAL RIBOSOMAL PROTEIN S7; MRPS7", "OMIM:611975": "MITOCHONDRIAL RIBOSOMAL PROTEIN S9; MRPS9", "OMIM:611976": "MITOCHONDRIAL RIBOSOMAL PROTEIN S10; MRPS10", "OMIM:611977": "MITOCHONDRIAL RIBOSOMAL PROTEIN S11; MRPS11", "OMIM:611978": "MITOCHONDRIAL RIBOSOMAL PROTEIN S14; MRPS14", "OMIM:611979": "MITOCHONDRIAL RIBOSOMAL PROTEIN S15; MRPS15", "OMIM:611980": "MITOCHONDRIAL RIBOSOMAL PROTEIN S17; MRPS17", "OMIM:611981": "MITOCHONDRIAL RIBOSOMAL PROTEIN S18A; MRPS18A", "OMIM:611982": "MITOCHONDRIAL RIBOSOMAL PROTEIN S18B; MRPS18B", "OMIM:611983": "MITOCHONDRIAL RIBOSOMAL PROTEIN S18C; MRPS18C", "OMIM:611984": "MITOCHONDRIAL RIBOSOMAL PROTEIN S21; MRPS21", "OMIM:611985": "MITOCHONDRIAL RIBOSOMAL PROTEIN S23; MRPS23", "OMIM:611986": "MITOCHONDRIAL RIBOSOMAL PROTEIN S24; MRPS24", "OMIM:611987": "MITOCHONDRIAL RIBOSOMAL PROTEIN S25; MRPS25", "OMIM:611988": "MITOCHONDRIAL RIBOSOMAL PROTEIN S26; MRPS26", "OMIM:611989": "MITOCHONDRIAL RIBOSOMAL PROTEIN S27; MRPS27", "OMIM:611990": "MITOCHONDRIAL RIBOSOMAL PROTEIN S28; MRPS28", "OMIM:611991": "MITOCHONDRIAL RIBOSOMAL PROTEIN S30; MRPS30", "OMIM:611992": "MITOCHONDRIAL RIBOSOMAL PROTEIN S31; MRPS31", "OMIM:611993": "MITOCHONDRIAL RIBOSOMAL PROTEIN S33; MRPS33", "OMIM:611994": "MITOCHONDRIAL RIBOSOMAL PROTEIN S34; MRPS34", "OMIM:611995": "MITOCHONDRIAL RIBOSOMAL PROTEIN S35; MRPS35", "OMIM:611996": "MITOCHONDRIAL RIBOSOMAL PROTEIN S36; MRPS36", "OMIM:611997": "MITOCHONDRIAL RIBOSOMAL PROTEIN 63; MRP63", "OMIM:611998": "cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 3; CREB3L3", "OMIM:611999": "RAB11 FAMILY-INTERACTING PROTEIN 4; RAB11FIP4", "OMIM:612000": "TRIPARTITE MOTIF-CONTAINING PROTEIN 66; TRIM66", "OMIM:612002": "DEP DOMAIN-CONTAINING PROTEIN 1; DEPDC1", "OMIM:612003": "GRB10-INTERACTING GYF PROTEIN 2; GIGYF2", "OMIM:612005": "CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7", "OMIM:612006": "CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8", "OMIM:612007": "CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9", "OMIM:612008": "CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10", "OMIM:612009": "CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11", "OMIM:612010": "CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12", "OMIM:612011": "CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13", "OMIM:612012": "ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26", "OMIM:612013": "COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A", "OMIM:612014": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21B; TTC21B", "OMIM:612017": "PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3", "OMIM:612019": "INTESTINE-SPECIFIC HOMEOBOX; ISX", "OMIM:612021": "OTU DOMAIN-CONTAINING PROTEIN 6B; OTUD6B", "OMIM:612022": "OTU DOMAIN-CONTAINING PROTEIN 1; OTUD1", "OMIM:612023": "YOD1 DEUBIQUITINASE; YOD1", "OMIM:612024": "OTU DOMAIN-CONTAINING PROTEIN 7A; OTUD7A", "OMIM:612025": "IODOTYROSINE DEIODINASE; IYD", "OMIM:612026": "La RIBONUCLEOPROTEIN 7, TRANSCRIPTIONAL REGULATOR; LARP7", "OMIM:612027": "TRAFFICKING REGULATOR AND SCAFFOLD PROTEIN TAMALIN; TAMALIN", "OMIM:612028": "FAT STORAGE-INDUCING TRANSMEMBRANE PROTEIN 1; FITM1", "OMIM:612029": "FAT STORAGE-INDUCING TRANSMEMBRANE PROTEIN 2; FITM2", "OMIM:612030": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; CHDS9", "OMIM:612031": "INHIBIN, BETA E; INHBE", "OMIM:612032": "DPY30 HISTONE METHYLTRANSFERASE COMPLEX REGULATORY SUBUNIT; DPY30", "OMIM:612033": "PAXIP1-ASSOCIATED GLUTAMATE-RICH PROTEIN 1; PAGR1", "OMIM:612034": "APC2 REGULATOR OF WNT SIGNALING PATHWAY 2; APC2", "OMIM:612035": "ALANYL-tRNA SYNTHETASE 2; AARS2", "OMIM:612036": "PROLYL-tRNA SYNTHETASE 2; PARS2", "OMIM:612037": "MITOCHONDRIAL UBIQUITIN LIGASE ACTIVATOR OF NFKB 1; MUL1", "OMIM:612038": "TRANSMEMBRANE p24 TRAFFICKING PROTEIN 4; TMED4", "OMIM:612039": "1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 7; AGPAT7", "OMIM:612040": "LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 2; LPCAT2", "OMIM:612041": "RING FINGER PROTEIN 212; RNF212", "OMIM:612042": "RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1", "OMIM:612043": "MICRO RNA 371A; MIR371A", "OMIM:612044": "MICRO RNA 372; MIRN372", "OMIM:612045": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 3; C1QTNF3", "OMIM:612046": "E2F TRANSCRIPTION FACTOR 7; E2F7", "OMIM:612047": "E2F TRANSCRIPTION FACTOR 8; E2F8", "OMIM:612048": "TRANSMEMBRANE PROTEIN 43; TMEM43", "OMIM:612049": "RIBOSOMAL OXYGENASE 2; RIOX2", "OMIM:612050": "NEDD4 FAMILY-INTERACTING PROTEIN 1; NDFIP1", "OMIM:612051": "BRAIN-EXPRESSED, ASSOCIATED WITH NEDD4, 1; BEAN1", "OMIM:612052": "SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3", "OMIM:612053": "ZINC FINGER PROTEIN 36-LIKE 2; ZFP36L2", "OMIM:612054": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 9; CNOT9", "OMIM:612055": "RIBOSOMAL PROTEIN S27-LIKE; RPS27L", "OMIM:612056": "GUIDED ENTRY OF TAIL-ANCHORED PROTEINS FACTOR 4; GET4", "OMIM:612057": "SUPPRESSOR APC DOMAIN-CONTAINING PROTEIN 2; SAPCD2", "OMIM:612058": "SAMM50 SORTING AND ASSEMBLY MACHINERY COMPONENT; SAMM50", "OMIM:612059": "La RIBONUCLEOPROTEIN 1, TRANSLATIONAL REGULATOR; LARP1", "OMIM:612060": "ZINC FINGER AND RING FINGER PROTEIN 1; ZNRF1", "OMIM:612061": "ZINC FINGER AND RING FINGER PROTEIN 2; ZNRF2", "OMIM:612062": "ZINC FINGER AND RING FINGER PROTEIN 3; ZNRF3", "OMIM:612063": "ZINC FINGER AND RING FINGER PROTEIN 4; ZNRF4", "OMIM:612064": "GRB10-INTERACTING GYF PROTEIN 1; GIGYF1", "OMIM:612065": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 9; PARP9", "OMIM:612066": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 15; PARP15", "OMIM:612068": "PHOSPHOINOSITIDE-INTERACTING REGULATOR OF TRANSIENT RECEPTOR POTENTIAL CHANNELS; PIRT", "OMIM:612070": "MICRO RNA 144; MIRN144", "OMIM:612071": "MICRO RNA 451; MIRN451", "OMIM:612072": "MIF4G DOMAIN-CONTAINING PROTEIN; MIF4GD", "OMIM:612074": "RNA-BINDING MOTIF PROTEIN 28; RBM28", "OMIM:612077": "MICRO RNA 22; MIR22", "OMIM:612078": "ZINC FINGER PROTEIN 469; ZNF469", "OMIM:612080": "UBIQUINOL-CYTOCHROME c REDUCTASE, COMPLEX III SUBUNIT VII; UQCRQ", "OMIM:612081": "INTERLEUKIN 34; IL34", "OMIM:612082": "CAPICUA TRANSCRIPTIONAL REPRESSOR; CIC", "OMIM:612083": "MUSCLE STRENGTH QUANTITATIVE TRAIT LOCUS 1", "OMIM:612084": "SOLUTE CARRIER FAMILY 51, SUBUNIT ALPHA; SLC51A", "OMIM:612085": "SOLUTE CARRIER FAMILY 51, SUBUNIT BETA; SLC51B", "OMIM:612086": "MINOR HISTOCOMPATIBILITY ANTIGEN, SERPIN DOMAIN-CONTAINING; HMSD", "OMIM:612087": "C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER A; CLEC2A", "OMIM:612088": "C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER A; CLEC12A", "OMIM:612090": "MICRO RNA 200A; MIR200A", "OMIM:612091": "MICRO RNA 200B; MIRN200B", "OMIM:612092": "MICRO RNA 200C; MIR200C", "OMIM:612093": "MICRO RNA 141; MIR141", "OMIM:612094": "MICRO RNA 429; MIRN429", "OMIM:612099": "TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2", "OMIM:612100": "AUTISM, SUSCEPTIBILITY TO, 15; AUTS15", "OMIM:612101": "PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, BETA; PI4K2B", "OMIM:612102": "MICRO RNA LET7G; MIRNLET7G", "OMIM:612103": "NUCLEIC ACID-BINDING PROTEIN 1; NABP1", "OMIM:612104": "NUCLEIC ACID-BINDING PROTEIN 2; NABP2", "OMIM:612105": "KILLIN; KLLN", "OMIM:612106": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 40; ZBTB40", "OMIM:612107": "SOLUTE CARRIER FAMILY 17 (VESICULAR NUCLEOTIDE TRANSPORTER), MEMBER 9; SLC17A9", "OMIM:612108": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1", "OMIM:612110": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9", "OMIM:612111": "TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8; TNFAIP8", "OMIM:612112": "TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 2; TNFAIP8L2", "OMIM:612113": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10", "OMIM:612114": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11", "OMIM:612115": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; ARHGEF3", "OMIM:612116": "UBIQUITIN-SPECIFIC PROTEASE 22; USP22", "OMIM:612117": "MICRO RNA 143; MIR143", "OMIM:612118": "IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 3; IQSEC3", "OMIM:612120": "CELL DEATH-INDUCING DFFA-LIKE EFFECTOR C; CIDEC", "OMIM:612121": "PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 1; PNPLA1", "OMIM:612122": "PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 7; PNPLA7", "OMIM:612123": "PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 8; PNPLA8", "OMIM:612125": "SERTA DOMAIN-CONTAINING PROTEIN 3; SERTAD3", "OMIM:612127": "17-BETA-HYDROXYSTEROID DEHYDROGENASE XIII; HSD17B13", "OMIM:612128": "RAS-LIKE, FAMILY 10, MEMBER B; RASL10B", "OMIM:612129": "INDOLEAMINE 2,3-DIOXYGENASE 2; IDO2", "OMIM:612130": "GENE AMPLIFIED IN ESOPHAGEAL CANCER 1; GAEC1", "OMIM:612131": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 9; DHRS9", "OMIM:612133": "TRANSCRIPTION FACTOR NFE4; NFE4", "OMIM:612134": "GLUCURONIC ACID EPIMERASE; GLCE", "OMIM:612135": "CALCIUM-BINDING TYROSINE PHOSPHORYLATION-REGULATED PROTEIN; CABYR", "OMIM:612136": "ENOYL COENZYME A HYDRATASE DOMAIN-CONTAINING PROTEIN 1; ECHDC1", "OMIM:612137": "RING FINGER PROTEIN 146; RNF146", "OMIM:612139": "PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 2; PREX2", "OMIM:612140": "SEPTIN 14; SEPT14", "OMIM:612141": "ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4A; EPB41L4A", "OMIM:612142": "MICRO RNA LET7A2; MIRLET7A2", "OMIM:612143": "MICRO RNA LET7A3; MIRNLET7A3", "OMIM:612144": "MICRO RNA LET7C; MIRLET7C", "OMIM:612145": "MICRO RNA LET7D; MIRNLET7D", "OMIM:612146": "MICRO RNA LET7F1; MIRLET7F1", "OMIM:612147": "MYOSIN LIGHT CHAIN KINASE 3; MYLK3", "OMIM:612148": "MICRO RNA LET7I; MIRNLET7I", "OMIM:612149": "RNA-BINDING FOX1 HOMOLOG 2; RBFOX2", "OMIM:612150": "MICRO RNA 25; MIR25", "OMIM:612151": "MICRO RNA 26A1; MIR26A1", "OMIM:612152": "MICRO RNA 26B; MIR26B", "OMIM:612153": "MICRO RNA 27A; MIR27A", "OMIM:612154": "MICRO RNA 28; MIR28", "OMIM:612155": "MICRO RNA 31; MIR31", "OMIM:612156": "MICRO RNA 33A; MIR33A", "OMIM:612157": "SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 1; SENP1", "OMIM:612159": "RABPHILIN 3A; RPH3A", "OMIM:612161": "ANEURYSM, INTRACRANIAL BERRY, 7; ANIB7", "OMIM:612162": "ANEURYSM, INTRACRANIAL BERRY, 8; ANIB8", "OMIM:612163": "TWO-PORE SEGMENT CHANNEL 2; TPCN2", "OMIM:612166": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 2; SLC39A2", "OMIM:612167": "WD REPEAT-CONTAINING PROTEIN 48; WDR48", "OMIM:612168": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 3; SLC39A3", "OMIM:612169": "Fc FRAGMENT OF IgG RECEPTOR IIc; FCGR2C", "OMIM:612170": "MUCIN 19, OLIGOMERIC; MUC19", "OMIM:612171": "REPRIMO; RPRM", "OMIM:612172": "DEAD-BOX HELICASE 23; DDX23", "OMIM:612173": "SPERM-ASSOCIATED ANTIGEN 16; SPAG16", "OMIM:612174": "CALCIUM-BINDING PROTEIN 39; CAB39", "OMIM:612175": "CALCIUM-BINDING PROTEIN 39-LIKE PROTEIN; CAB39L", "OMIM:612176": "MYB-LIKE, SWIRM, AND MPN DOMAINS-CONTAINING PROTEIN 1; MYSM1", "OMIM:612177": "RNA, 7SL, CYTOPLASMIC 1; RN7SL1", "OMIM:612178": "HEN METHYLTRANSFERASE 1; HENMT1", "OMIM:612179": "RNA, 7SL, CYTOPLASMIC 2; RN7SL2", "OMIM:612180": "RNA, 7SL, CYTOPLASMIC 3; RN7SL3", "OMIM:612181": "MUCIN 13, CELL SURFACE-ASSOCIATED; MUC13", "OMIM:612182": "N-ACETYLTRANSFERASE 2; NAT2", "OMIM:612183": "G PROTEIN-COUPLED RECEPTOR 176; GPR176", "OMIM:612184": "CASK-INTERACTING PROTEIN 1; CASKIN1", "OMIM:612185": "CASK-INTERACTING PROTEIN 2; CASKIN2", "OMIM:612186": "DMX-LIKE 2; DMXL2", "OMIM:612187": "SOLUTE CARRIER FAMILY 48 (HEME TRANSPORTER), MEMBER 1; SLC48A1", "OMIM:612188": "VPS39 SUBUNIT OF HOPS COMPLEX; VPS39", "OMIM:612189": "PHENAZINE BIOSYNTHESIS-LIKE PROTEIN DOMAIN-CONTAINING PROTEIN; PBLD", "OMIM:612190": "MTOR-ASSOCIATED PROTEIN LST8; MLST8", "OMIM:612191": "MICROSEMINOPROTEIN, PROSTATE-ASSOCIATED; MSMP", "OMIM:612192": "ZFP57 ZINC FINGER PROTEIN; ZFP57", "OMIM:612193": "CARDIOMYOPATHY-ASSOCIATED PROTEIN 5; CMYA5", "OMIM:612194": "RAS-RELATED GTP-BINDING PROTEIN A; RRAGA", "OMIM:612195": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 1; ABHD1", "OMIM:612196": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 2, ACYLGLYCEROL LIPASE; ABHD2", "OMIM:612197": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 3, PHOSPHOLIPASE; ABHD3", "OMIM:612200": "DIVERGENT PROTEIN KINASE DOMAIN 2A; DIPK2A", "OMIM:612202": "SRY-BOX 7; SOX7", "OMIM:612203": "NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 5; NAP1L5", "OMIM:612204": "AUTOPHAGY-RELATED 9A; ATG9A", "OMIM:612205": "AUTOPHAGY-RELATED 9B; ATG9B", "OMIM:612206": "FOUR-JOINTED BOX KINASE 1; FJX1", "OMIM:612207": "GOLGI PHOSPHOPROTEIN 3; GOLPH3", "OMIM:612208": "GOLGI PHOSPHOPROTEIN 3-LIKE; GOLPH3L", "OMIM:612209": "MESOGENIN 1; MSGN1", "OMIM:612210": "HEPATOCELLULAR CARCINOMA-UPREGULATED LONG NONCODING RNA; HULC", "OMIM:612211": "TUMOR SUPPRESSOR CANDIDATE 5; TUSC5", "OMIM:612212": "PLASMINOGEN-LIKE A; PLGLA", "OMIM:612213": "BINDER OF SPERM PROTEIN HOMOLOG 1; BSPH1", "OMIM:612214": "RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 4; RGL4", "OMIM:612215": "SMALL NUCLEOLAR RNA HOST GENE 6; SNHG6", "OMIM:612216": "SMALL NUCLEOLAR RNA, C/D BOX, 87; SNORD87", "OMIM:612217": "INFLAMMATION AND LIPID REGULATOR WITH UBA-LIKE AND NBR1-LIKE DOMAINS; ILRUN", "OMIM:612218": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38", "OMIM:612220": "BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 3; B4GALNT3", "OMIM:612221": "STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10", "OMIM:612222": "GALACTOSAMINE-6-SULFATE SULFATASE; GALNS", "OMIM:612223": "STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11", "OMIM:612224": "STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12", "OMIM:612226": "STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13", "OMIM:612228": "STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14", "OMIM:612230": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 5; CRCS5", "OMIM:612231": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 6; CRCS6", "OMIM:612232": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7", "OMIM:612234": "CALCIUM HOMEOSTASIS MODULATOR 1; CALHM1", "OMIM:612235": "CALCIUM HOMEOSTASIS MODULATOR 2; CALHM2", "OMIM:612236": "ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 2; ERGIC2", "OMIM:612238": "SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4; IS4", "OMIM:612239": "SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5; IS5", "OMIM:612241": "INFLAMMATORY BOWEL DISEASE 12; IBD12", "OMIM:612243": "ADHESION G PROTEIN-COUPLED RECEPTOR G6; ADGRG6", "OMIM:612245": "INFLAMMATORY BOWEL DISEASE 14; IBD14", "OMIM:612246": "CD302 ANTIGEN; CD302", "OMIM:612248": "ZINC FINGER PROTEIN 627; ZNF627", "OMIM:612249": "THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 7A; THSD7A", "OMIM:612250": "G PROTEIN-COUPLED RECEPTOR 161: GPR161", "OMIM:612251": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10", "OMIM:612252": "C-TYPE LECTIN DOMAIN FAMILY 9, MEMBER A; CLEC9A", "OMIM:612253": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11", "OMIM:612254": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12", "OMIM:612255": "INFLAMMATORY BOWEL DISEASE 15; IBD15", "OMIM:612256": "MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1; MAST1", "OMIM:612257": "MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 2; MAST2", "OMIM:612258": "MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 3; MAST3", "OMIM:612259": "INFLAMMATORY BOWEL DISEASE 16; IBD16", "OMIM:612261": "INFLAMMATORY BOWEL DISEASE 17; IBD17", "OMIM:612262": "INFLAMMATORY BOWEL DISEASE 18; IBD18", "OMIM:612263": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7", "OMIM:612264": "MANNOSE RECEPTOR, C-TYPE, 2; MRC2", "OMIM:612265": "FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER A; FAM120A", "OMIM:612266": "FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER B; FAM120B", "OMIM:612267": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10", "OMIM:612268": "TUBULIN TYROSINE LIGASE-LIKE 5; TTLL5", "OMIM:612270": "CELL DIVISION CYCLE-ASSOCIATED PROTEIN 4; CDCA4", "OMIM:612271": "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11", "OMIM:612274": "CILIARY DYSKINESIA, PRIMARY, 8; CILD8", "OMIM:612275": "GAMETOGENETIN-BINDING PROTEIN 2; GGNBP2", "OMIM:612276": "YRDC DOMAIN-CONTAINING PROTEIN; YRDC", "OMIM:612277": "ADAMTS-LIKE PROTEIN 2; ADAMTSL2", "OMIM:612279": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 6; GEFSP6", "OMIM:612280": "FUCOSIDASE, ALPHA-L, 1; FUCA1", "OMIM:612282": "ZINC FINGER PROTEIN 804A; ZNF804A", "OMIM:612283": "PROTEIN C; PROC", "OMIM:612288": "INFLAMMATORY BOWEL DISEASE 20; IBD20", "OMIM:612293": "POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK5", "OMIM:612294": "DEP DOMAIN-CONTAINING PROTEIN 7; DEPDC7", "OMIM:612295": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 14 EFFECTOR PROTEIN; ARL14EP", "OMIM:612296": "LONG INTERGENIC NONCODING RNA 294; LINC00294", "OMIM:612297": "CHROMOSOME 11 OPEN READING FRAME 41; C11ORF41", "OMIM:612298": "TRIPARTITE MOTIF-CONTAINING PROTEIN 44; TRIM44", "OMIM:612299": "COMM DOMAIN-CONTAINING PROTEIN 9; COMMD9", "OMIM:612302": "ADHESION G PROTEIN-COUPLED RECEPTOR A1; ADGRA1", "OMIM:612303": "ADHESION G PROTEIN-COUPLED RECEPTOR A3; ADGRA3", "OMIM:612305": "ADHESION G PROTEIN-COUPLED RECEPTOR E4, PSEUDOGENE; ADGRE4P", "OMIM:612306": "THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1", "OMIM:612307": "ADHESION G PROTEIN-COUPLED RECEPTOR G7; ADGRG7", "OMIM:612308": "ZINC FINGER AND BTB DOMAIN-CONTAINING 4; ZBTB4", "OMIM:612309": "COAGULATION FACTOR V; F5", "OMIM:612311": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5", "OMIM:612312": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6", "OMIM:612314": "GLUTATHIONE S-TRANSFERASE, OMEGA-2; GSTO2", "OMIM:612315": "KERATIN 6C, TYPE II; KRT6C", "OMIM:612316": "ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3A; ATAD3A", "OMIM:612317": "ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3B; ATAD3B", "OMIM:612318": "PSEUDOFOLLICULITIS BARBAE", "OMIM:612320": "CUB DOMAIN-CONTAINING PROTEIN 2; CDCP2", "OMIM:612322": "FAST KINASE DOMAINS 2; FASTKD2", "OMIM:612323": "INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 1; IMMP1L", "OMIM:612324": "COILED-COIL DOMAIN-CONTAINING PROTEIN 34; CCDC34", "OMIM:612325": "INTESTINAL CELL KINASE; ICK", "OMIM:612326": "TRANSCRIPTION FACTOR 25; TCF25", "OMIM:612327": "MANNOSIDASE, ENDO-ALPHA; MANEA", "OMIM:612328": "COILED-COIL DOMAIN-CONTAINING PROTEIN 73: CCDC73", "OMIM:612329": "MICRO RNA 30A; MIR30A", "OMIM:612330": "MICRO RNA 610; MIRN610", "OMIM:612331": "LIN7 HOMOLOG B, CRUMBS CELL POLARITY COMPLEX COMPONENT; LIN7B", "OMIM:612332": "LIN7 HOMOLOG C, CRUMBS CELL POLARITY COMPLEX COMPONENT; LIN7C", "OMIM:612333": "PROGRAMMED CELL DEATH 11; PDCD11", "OMIM:612334": "N-ACYL PHOSPHATIDYLETHANOLAMINE-HYDROLYZING PHOSPHOLIPASE D; NAPEPLD", "OMIM:612338": "GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 1; GGTLC1", "OMIM:612339": "GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 2; GGTLC2", "OMIM:612340": "GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 3; GGTLC3", "OMIM:612341": "GAMMA-GLUTAMYLTRANSFERASE 6; GGT6", "OMIM:612342": "GAMMA-GLUTAMYLTRANSFERASE 7; GGT7", "OMIM:612343": "MUSICAL APTITUDE QUANTITATIVE TRAIT LOCUS", "OMIM:612344": "ZINC FINGER PROTEIN 385B; ZNF385B", "OMIM:612345": "CHROMOSOME 2q31.2 DELETION SYNDROME", "OMIM:612346": "GAMMA-GLUTAMYLTRANSFERASE 1; GGT1", "OMIM:612349": "PHENYLALANINE HYDROXYLASE; PAH", "OMIM:612351": "FORKHEAD BOX I3; FOXI3", "OMIM:612352": "STAM-BINDING PROTEIN-LIKE 1; STAMBPL1", "OMIM:612357": "MAJOR AFFECTIVE DISORDER 8; MAFD8", "OMIM:612358": "KININOGEN 1; KNG1", "OMIM:612360": "NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 5; NDUFAF5", "OMIM:612361": "SCHIZOPHRENIA 14", "OMIM:612362": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12", "OMIM:612363": "ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "OMIM:612364": "ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2", "OMIM:612365": "GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "OMIM:612366": "GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2", "OMIM:612367": "ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2", "OMIM:612368": "ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 3", "OMIM:612369": "ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 4", "OMIM:612371": "MAJOR AFFECTIVE DISORDER 7; MAFD7", "OMIM:612372": "MAJOR AFFECTIVE DISORDER 9; MAFD9", "OMIM:612373": "SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 3: SLC29A3", "OMIM:612374": "STIMULATOR OF INTERFERON RESPONSE cGAMP INTERACTOR 1; STING1", "OMIM:612375": "AXIN INTERACTOR, DORSALIZATION-ASSOCIATED; AIDA", "OMIM:612377": "COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6", "OMIM:612378": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13; SLEB13", "OMIM:612380": "INFLAMMATORY BOWEL DISEASE 22; IBD22", "OMIM:612381": "INFLAMMATORY BOWEL DISEASE 23; IBD23", "OMIM:612382": "MEDIATOR COMPLEX SUBUNIT 10; MED10", "OMIM:612383": "MEDIATOR COMPLEX SUBUNIT 11; MED11", "OMIM:612384": "MEDIATOR COMPLEX SUBUNIT 18; MED18", "OMIM:612385": "MEDIATOR COMPLEX SUBUNIT 19; MED19", "OMIM:612386": "FERROCHELATASE; FECH", "OMIM:612388": "SARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3", "OMIM:612392": "NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 6; NDUFAF6", "OMIM:612393": "WAS PROTEIN HOMOLOG ASSOCIATED WITH ACTIN, GOLGI MEMBRANES, AND MICROTUBULES; WHAMM", "OMIM:612395": "CHOLINE KINASE, BETA; CHKB", "OMIM:612396": "ALLANTOICASE; ALLC", "OMIM:612397": "COLLAGEN, TYPE VI, ALPHA-4, PSEUDOGENE 1; COL6A4P1", "OMIM:612398": "RAB-ASSOCIATED PROTEIN RAB21; RAB21", "OMIM:612399": "TLE FAMILY MEMBER 6, SUBCORTICAL MATERNAL COMPLEX MEMBER; TLE6", "OMIM:612400": "OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5", "OMIM:612401": "OSTEOARTHRITIS SUSCEPTIBILITY 6; OS6", "OMIM:612402": "ALS2 C-TERMINAL-LIKE PROTEIN; ALS2CL", "OMIM:612403": "RAS-LIKE, FAMILY 11, MEMBER A; RASL11A", "OMIM:612404": "RAS-LIKE, FAMILY 11, MEMBER B; RASL11B", "OMIM:612405": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 9; ARL9", "OMIM:612407": "REGULATOR OF G PROTEIN SIGNALING 21; RGS21", "OMIM:612408": "PARASPECKLE COMPONENT 1; PSPC1", "OMIM:612409": "RNA-BINDING MOTIF PROTEIN 14; RBM14", "OMIM:612410": "PSORIASIS 10, SUSCEPTIBILITY TO; PSORS10", "OMIM:612411": "FAT ATYPICAL CADHERIN 4; FAT4", "OMIM:612412": "SPERMATOGENESIS AND CENTRIOLE-ASSOCIATED PROTEIN 1-LIKE; SPATC1L", "OMIM:612413": "RNA-BINDING MOTIF PROTEIN 7; RBM7", "OMIM:612414": "LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE; LRTOMT", "OMIM:612415": "RAS-ASSOCIATED PROTEIN 24; RAB24", "OMIM:612417": "NARCOLEPSY 4, SUSCEPTIBILITY TO; NRCLP4", "OMIM:612418": "TRANSMEMBRANE PROTEIN 70; TMEM70", "OMIM:612419": "CARTILAGE INTERMEDIATE LAYER PROTEIN 2; CILP2", "OMIM:612420": "ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE PROTEIN 2; AFAP1L2", "OMIM:612421": "ALOPECIA, ANDROGENETIC, 3; AGA3", "OMIM:612424": "EYES SHUT HOMOLOG; EYS", "OMIM:612425": "SHUGOSHIN-LIKE 2; SGOL2", "OMIM:612426": "RECQ-MEDIATED GENOME INSTABILITY 2; RMI2", "OMIM:612427": "RNA-BINDING MOTIF PROTEIN 25; RBM25", "OMIM:612428": "RNA-BINDING MOTIF PROTEIN 38; RBM38", "OMIM:612429": "ZINC FINGER PROTEIN 300; ZNF300", "OMIM:612430": "RNA-BINDING MOTIF PROTEIN 22; RBM22", "OMIM:612432": "WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 3; WIPF3", "OMIM:612434": "CYSTEINE-RICH SECRETORY PROTEIN, LCCL DOMAIN-CONTAINING, 2; CRISPLD2", "OMIM:612435": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 3A1; SLCO3A1", "OMIM:612436": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 4A1; SLCO4A1", "OMIM:612439": "ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 3; ARFGAP3", "OMIM:612441": "ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B; MGAT5B", "OMIM:612442": "SEC22 HOMOLOG A, VESICLE TRAFFICKING PROTEIN; SEC22A", "OMIM:612445": "SCOLIOSIS, ARACHNODACTYLY, AND BLINDNESS", "OMIM:612448": "AGE-RELATED HEARING IMPAIRMENT 1; ARHI1", "OMIM:612449": "GEN1 HOLLIDAY JUNCTION 5-PRIME FLAP ENDONUCLEASE; GEN1", "OMIM:612450": "HBS1-LIKE PROTEIN; HBS1L", "OMIM:612451": "RING FINGER PROTEIN 114; RNF114", "OMIM:612452": "KAT8 REGULATORY NSL COMPLEX, SUBUNIT 1; KANSL1", "OMIM:612453": "MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 10; MEGF10", "OMIM:612454": "MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 11; MEGF11", "OMIM:612455": "SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 12; SLC5A12", "OMIM:612456": "APOLIPOPROTEIN L DOMAIN-CONTAINING 1; APOLD1", "OMIM:612457": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 3B; ARID3B", "OMIM:612458": "ACTIN-LIKE 6B; ACTL6B", "OMIM:612459": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13; BMIQ13", "OMIM:612460": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14", "OMIM:612461": "ACTIVITY-REGULATED CYTOSKELETON-ASSOCIATED PROTEIN; ARC", "OMIM:612464": "ARRESTIN DOMAIN-CONTAINING PROTEIN 3; ARRDC3", "OMIM:612465": "TBC1 DOMAIN FAMILY, MEMBER 4; TBC1D4", "OMIM:612466": "GUANYLATE-BINDING PROTEIN 4; GBP4", "OMIM:612467": "GUANYLATE-BINDING PROTEIN 6; GBP6", "OMIM:612468": "GUANYLATE-BINDING PROTEIN 7; GBP7", "OMIM:612469": "WAGRO SYNDROME; WAGRO", "OMIM:612470": "BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE 3; BATF3", "OMIM:612471": "ALANINE-GLYOXYLATE AMINOTRANSFERASE 2; AGXT2", "OMIM:612472": "METHYLTRANSFERASE 3, N6-ADENOSINE-METHYLTRANSFERASE COMPLEX CATALYTIC SUBUNIT; METTL3", "OMIM:612473": "PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 4; PEBP4", "OMIM:612476": "BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE; BATF", "OMIM:612477": "IQ MOTIF-CONTAINING PROTEIN G; IQCG", "OMIM:612478": "N-TERMINAL EF-HAND CALCIUM-BINDING PROTEIN 3; NECAB3", "OMIM:612480": "TCDD-INDUCIBLE POLY(ADP-RIBOSE) POLYMERASE; TIPARP", "OMIM:612481": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 12; PARP12", "OMIM:612482": "RING FINGER PROTEIN 43; RNF43", "OMIM:612483": "FAT ATYPICAL CADHERIN 3; FAT3", "OMIM:612484": "RIBONUCLEASE A FAMILY, MEMBER 7; RNASE7", "OMIM:612485": "RIBONUCLEASE A FAMILY, MEMBER 8; RNASE8", "OMIM:612486": "DACHSOUS CADHERIN-RELATED 2; DCHS2", "OMIM:612487": "RING FINGER PROTEIN 31; RNF31", "OMIM:612488": "RING FINGER PROTEIN 38; RNF38", "OMIM:612489": "RING FINGER PROTEIN 24; RNF24", "OMIM:612490": "RING FINGER PROTEIN 181; RNF181", "OMIM:612491": "APAF1-INTERACTING PROTEIN; APIP", "OMIM:612492": "UBIQUITIN-SPECIFIC PROTEASE 30; USP30", "OMIM:612493": "CANOPY FGF SIGNALING REGULATOR 1; CNPY1", "OMIM:612494": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10-LIKE; ARHGEF10L", "OMIM:612495": "UBIQUITIN-PROTEIN LIGASE E3D; UBE3D", "OMIM:612496": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 19; ARHGEF19", "OMIM:612497": "TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE NUCLEAR PROTEIN 1", "OMIM:612498": "ADENYLOSUCCINATE SYNTHASE 1; ADSS1", "OMIM:612499": "DIMT1 rRNA METHYLTRANSFERASE AND RIBOSOME MATURATION FACTOR; DIMT1", "OMIM:612500": "DExD-BOX HELICASE 52; DDX52", "OMIM:612501": "UBIQUITIN-CONJUGATING ENZYME E2 Q2; UBE2Q2", "OMIM:612502": "COLLECTIN 11; COLEC11", "OMIM:612503": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 5; ABCA5", "OMIM:612504": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 6; ABCA6", "OMIM:612505": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 8; ABCA8", "OMIM:612506": "UBIQUITIN-CONJUGATING ENZYME E2 R2; UBE2R2", "OMIM:612507": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 9; ABCA9", "OMIM:612508": "ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 10; ABCA10", "OMIM:612509": "ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 10; ABCC10", "OMIM:612510": "ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 2; ABCF2", "OMIM:612511": "MICRO RNA 101-1; MIRN101-1", "OMIM:612512": "MICRO RNA 101-2; MIRN101-2", "OMIM:612514": "SPECIFIC LANGUAGE IMPAIRMENT 4; SLI4", "OMIM:612515": "DDB1- AND CUL4-ASSOCIATED FACTOR 17; DCAF17", "OMIM:612516": "UVEAL AUTOANTIGEN WITH COILED-COIL DOMAINS AND ANKYRIN REPEATS; UACA", "OMIM:612517": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 2; DNAAF2", "OMIM:612519": "SOLUTE CARRIER FAMILY 35, MEMBER D3; SLC35D3", "OMIM:612521": "TYPE 1 DIABETES MELLITUS 21; T1D21", "OMIM:612522": "TYPE 1 DIABETES MELLITUS 22; T1D22", "OMIM:612523": "IQ MOTIF-CONTAINING PROTEIN H: IQCH", "OMIM:612524": "RIBONUCLEASE P/MRP SUBUNIT p21; RPP21", "OMIM:612525": "PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 5; IHPS5", "OMIM:612531": "THAP DOMAIN-CONTAINING PROTEIN 2; THAP2", "OMIM:612532": "THAP DOMAIN-CONTAINING PROTEIN 3; THAP3", "OMIM:612533": "THAP DOMAIN-CONTAINING PROTEIN 4; THAP4", "OMIM:612534": "THAP DOMAIN-CONTAINING PROTEIN 5; THAP5", "OMIM:612535": "THAP DOMAIN-CONTAINING PROTEIN 6; THAP6", "OMIM:612536": "THAP DOMAIN-CONTAINING PROTEIN 8; THAP8", "OMIM:612537": "THAP DOMAIN-CONTAINING PROTEIN 9; THAP9", "OMIM:612538": "THAP DOMAIN-CONTAINING PROTEIN 10; THAP10", "OMIM:612542": "VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1", "OMIM:612543": "UBIQUITIN-SPECIFIC PROTEASE 36; USP36", "OMIM:612544": "ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 2; ABLIM2", "OMIM:612545": "WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 26; WBSCR26", "OMIM:612546": "METHYLTRANSFERASE-LIKE 27; METTL27", "OMIM:612547": "TRANSMEMBRANE PROTEIN 270; TMEM270", "OMIM:612548": "TRIPARTITE MOTIF-CONTAINING PROTEIN 50; TRIM50", "OMIM:612549": "TRIPARTITE MOTIF-CONTAINING PROTEIN 73; TRIM73", "OMIM:612550": "TRIPARTITE MOTIF-CONTAINING PROTEIN 74; TRIM74", "OMIM:612552": "ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 4; ZBED4", "OMIM:612553": "MICRO RNA 370; MIR370", "OMIM:612554": "MYOPIA 16, AUTOSOMAL DOMINANT; MYP16", "OMIM:612556": "ADIPONECTIN DEFICIENCY; ADPOD", "OMIM:612557": "LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3", "OMIM:612558": "LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 4", "OMIM:612559": "LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 5", "OMIM:612560": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12", "OMIM:612564": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 9; TXNDC9", "OMIM:612565": "RAS-ASSOCIATED PROTEIN RAB1B; RAB1B", "OMIM:612566": "INFLAMMATORY BOWEL DISEASE 24; IBD24", "OMIM:612568": "SPIC TRANSCRIPTION FACTOR; SPIC", "OMIM:612569": "CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 1; CCAR1", "OMIM:612570": "FIBRILLIN 2; FBN2", "OMIM:612571": "LUNG CANCER SUSCEPTIBILITY 3; LNCR3", "OMIM:612573": "MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 1; MPVCQTL1", "OMIM:612574": "MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 2; MPVCQTL2", "OMIM:612575": "MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 3; MPVCQTL3", "OMIM:612578": "STATURE QUANTITATIVE TRAIT LOCUS 15; STQTL15", "OMIM:612579": "STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL16", "OMIM:612583": "SPHINGOLIPID TRANSPORTER 1; SPNS1", "OMIM:612584": "SPHINGOLIPID TRANSPORTER 2; SPNS2", "OMIM:612585": "CLPTM1-LIKE PROTEIN; CLPTM1L", "OMIM:612586": "ANEURYSM, INTRACRANIAL BERRY, 9; ANIB9", "OMIM:612587": "ANEURYSM, INTRACRANIAL BERRY, 10; ANIB10", "OMIM:612588": "BCL2-ASSOCIATED TRANSCRIPTION FACTOR 1; BCLAF1", "OMIM:612589": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8", "OMIM:612590": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9", "OMIM:612592": "COLORECTAL CANCER, SUSCEPTIBILITY TO, 11; CRCS11", "OMIM:612593": "LUNG CANCER SUSCEPTIBILITY 4; LNCR4", "OMIM:612594": "MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2", "OMIM:612595": "MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3", "OMIM:612596": "MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4", "OMIM:612597": "CYTOTOXIC AND REGULATORY T-CELL MOLECULE; CRTAM", "OMIM:612598": "RING FINGER PROTEIN 11; RNF11", "OMIM:612599": "PSORIASIS 11, SUSCEPTIBILITY TO; PSORS11", "OMIM:612600": "RNA METHYLTRANSFERASE-LIKE 1; RNMTL1", "OMIM:612601": "RET FINGER PROTEIN-LIKE 4A; RFPL4A", "OMIM:612602": "RNA-BINDING MOTIF PROTEIN 15B; RBM15B", "OMIM:612603": "LATE CORNIFIED ENVELOPE PROTEIN 1A; LCE1A", "OMIM:612604": "LATE CORNIFIED ENVELOPE PROTEIN 1B; LCE1B", "OMIM:612605": "LATE CORNIFIED ENVELOPE 1C; LCE1C", "OMIM:612606": "LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D", "OMIM:612607": "LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E", "OMIM:612608": "LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F", "OMIM:612609": "LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A", "OMIM:612610": "LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B", "OMIM:612611": "LATE CORNIFIED ENVELOPE PROTEIN 2C; LCE2C", "OMIM:612612": "LATE CORNIFIED ENVELOPE PROTEIN 2D; LCE2D", "OMIM:612613": "LATE CORNIFIED ENVELOPE PROTEIN 3A; LCE3A", "OMIM:612614": "LATE CORNIFIED ENVELOPE PROTEIN 3B; LCE3B", "OMIM:612615": "LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C", "OMIM:612616": "LATE CORNIFIED ENVELOPE PROTEIN 3D; LCE3D", "OMIM:612617": "LATE CORNIFIED ENVELOPE PROTEIN 3E; LCE3E", "OMIM:612618": "LATE CORNIFIED ENVELOPE PROTEIN 4A; LCE4A", "OMIM:612619": "LATE CORNIFIED ENVELOPE PROTEIN 5A; LCE5A", "OMIM:612620": "RAS ASSOCIATION DOMAIN FAMILY, MEMBER 6; RASSF6", "OMIM:612622": "TYPE 1 DIABETES MELLITUS 23; T1D23", "OMIM:612623": "MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2", "OMIM:612624": "MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3", "OMIM:612625": "LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1", "OMIM:612627": "SEIZURES, BENIGN FAMILIAL INFANTILE, 4; BFIS4", "OMIM:612628": "MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4", "OMIM:612629": "ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; ADIPQTL4", "OMIM:612630": "HAIR MORPHOLOGY 1; HRM1", "OMIM:612632": "USHER SYNDROME, TYPE IH; USH1H", "OMIM:612633": "MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5", "OMIM:612634": "MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6", "OMIM:612635": "MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7", "OMIM:612636": "UNC80 HOMOLOG, NALCN CHANNEL COMPLEX SUBUNIT; UNC80", "OMIM:612637": "FEBRILE SEIZURES, FAMILIAL, 10; FEB10", "OMIM:612638": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A11; NDUFA11", "OMIM:612639": "INFLAMMATORY BOWEL DISEASE 26; IBD26", "OMIM:612640": "THYMUS, BRAIN, AND TESTES ASSOCIATED; TBATA", "OMIM:612641": "ANKYRIN 1; ANK1", "OMIM:612646": "MET TRANSCRIPTIONAL REGULATOR MACC1; MACC1", "OMIM:612647": "RADIAL SPOKE HEAD COMPONENT 4A; RSPH4A", "OMIM:612648": "RADIAL SPOKE HEAD COMPONENT 9; RSPH9", "OMIM:612654": "TRICHOPLEIN; TCHP", "OMIM:612655": "TBC1 DOMAIN FAMILY, MEMBER 7; TBC1D7", "OMIM:612658": "TIGHT JUNCTION-ASSOCIATED PROTEIN 1; TJAP1", "OMIM:612659": "REGULATORY FACTOR X, 6; RFX6", "OMIM:612660": "REGULATORY FACTOR X, 7; RFX7", "OMIM:612661": "WD REPEAT-CONTAINING PROTEIN ANTISENSE TO TP53; WRAP53", "OMIM:612662": "TBC1 DOMAIN FAMILY, MEMBER 15; TBC1D15", "OMIM:612663": "TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN, FAMILY MEMBER B; TIFAB", "OMIM:612664": "RAS-LIKE AND ESTROGEN-REGULATED GROWTH INHIBITOR; RERG", "OMIM:612665": "TESTIS-EXPRESSED GENE 101; TEX101", "OMIM:612666": "DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK", "OMIM:612667": "HOLLIDAY JUNCTION RECOGNITION PROTEIN; HJURP", "OMIM:612668": "TASTE RECEPTOR, TYPE 2, MEMBER 43; TAS2R43", "OMIM:612669": "TASTE RECEPTOR, TYPE 2, MEMBER 31; TAS2R31", "OMIM:612671": "URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4", "OMIM:612672": "RAS-ASSOCIATED PROTEIN RAB10; RAB10", "OMIM:612673": "RAS-ASSOCIATED PROTEIN RAB14; RAB14", "OMIM:612675": "SMALL CAJAL BODY-SPECIFIC RNA 15; SCARNA15", "OMIM:612676": "QUINOID DIHYDROPTERIDINE REDUCTASE; QDPR", "OMIM:612677": "PYRIN AND HIN DOMAIN FAMILY, MEMBER 1; PYHIN1", "OMIM:612678": "CUGBP- AND ELAV-LIKE FAMILY, MEMBER 3; CELF3", "OMIM:612679": "CUGBP- AND ELAV-LIKE FAMILY, MEMBER 4; CELF4", "OMIM:612680": "CUGBP- AND ELAV-LIKE FAMILY, MEMBER 5; CELF5", "OMIM:612681": "CUGBP- AND ELAV-LIKE FAMILY, MEMBER 6; CELF6", "OMIM:612682": "DORSAL INHIBITORY AXON GUIDANCE PROTEIN; DRAXIN", "OMIM:612683": "TEKTIN 3; TEKT3", "OMIM:612684": "ISTHMIN 2; ISM2", "OMIM:612685": "CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 3; CAMSAP3", "OMIM:612686": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 7; PLEKHA7", "OMIM:612687": "RGM DOMAIN FAMILY, MEMBER B; RGMB", "OMIM:612688": "RING FINGER PROTEIN 168; RNF168", "OMIM:612689": "TIGHT JUNCTION PROTEIN 3; TJP3", "OMIM:612693": "UBIQUITIN-RELATED MODIFIER 1; URM1", "OMIM:612694": "CYTOSOLIC THIOURIDYLASE, SUBUNIT 1; CTU1", "OMIM:612695": "VAULT RNA 1-1; VTRNA1-1", "OMIM:612696": "VAULT RNA 1-2; VTRNA1-2", "OMIM:612697": "VAULT RNA 1-3; VTRNA1-3", "OMIM:612698": "MICRO RNA 187; MIR187", "OMIM:612699": "RIMS-BINDING PROTEIN 3; RIMBP3", "OMIM:612700": "RIMS-BINDING PROTEIN 3B; RIMBP3B", "OMIM:612701": "RIMS-BINDING PROTEIN 3C; RIMBP3C", "OMIM:612704": "RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 1; RGPD1", "OMIM:612705": "RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 2; RGPD2", "OMIM:612706": "RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 3; RGPD3", "OMIM:612707": "RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 4; RGPD4", "OMIM:612708": "RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 5; RGPD5", "OMIM:612709": "RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 6; RGPD6", "OMIM:612710": "RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 7; RGPD7", "OMIM:612711": "GRIP AND COILED-COIL DOMAIN-CONTAINING PROTEIN 2; GCC2", "OMIM:612715": "DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 2; DUH2", "OMIM:612719": "6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS", "OMIM:612720": "DExH-BOX HELICASE; DHX29", "OMIM:612721": "REGULATED ENDOCRINE-SPECIFIC PROTEIN 18", "OMIM:612722": "ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 3; ELP3", "OMIM:612723": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY H, MEMBER 2; PLEKHH2", "OMIM:612724": "ALDOLASE B, FRUCTOSE-BISPHOSPHATE; ALDOB", "OMIM:612725": "PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C", "OMIM:612727": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 13; BMND13", "OMIM:612728": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 14; BMND14", "OMIM:612729": "LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1; LBMQTL1", "OMIM:612730": "SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 8; SLC9A8", "OMIM:612732": "COPROPORPHYRINOGEN OXIDASE; CPOX", "OMIM:612733": "THO COMPLEX, SUBUNIT 5; THOC5", "OMIM:612734": "TLX1 NEIGHBOR; TLX1NB", "OMIM:612735": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-3; HLA-DRB3", "OMIM:612737": "STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17", "OMIM:612738": "SOLUTE CARRIER FAMILY 9, MEMBER C1; SLC9C1;;", "OMIM:612739": "SPERM ACROSOME-ASSOCIATED PROTEIN 1; SPACA1", "OMIM:612741": "SNAIL FAMILY TRANSCRIPTIONAL REPRESSOR 3; SNAI3", "OMIM:612742": "MICRO RNA 181A1; MIR181A1", "OMIM:612743": "MICRO RNA 181A2; MIR181A2", "OMIM:612744": "MICRO RNA 181B1; MIR181B1", "OMIM:612745": "MICRO RNA 181B2; MIR181B2", "OMIM:612746": "MICRO RNA 181C; MIR181C", "OMIM:612747": "TUFTELIN-INTERACTING PROTEIN 11; TFIP11", "OMIM:612748": "LYSOZYME-LIKE 2; LYZL2", "OMIM:612749": "SPERM ACROSOME-ASSOCIATED PROTEIN 3; SPACA3", "OMIM:612750": "LYSOZYME-LIKE 4; LYZL4", "OMIM:612751": "LYSOZYME-LIKE 6; LYZL6", "OMIM:612752": "CXXC FINGER PROTEIN 5; CXXC5", "OMIM:612753": "COLLAGEN AND CALCIUM-BINDING EGF DOMAIN-CONTAINING PROTEIN 1; CCBE1", "OMIM:612754": "GLUTAREDOXIN 3; GLRX3", "OMIM:612755": "N-ALPHA-ACETYLTRANSFERASE 25, NatB AUXILIARY SUBUNIT; NAA25", "OMIM:612756": "TESTICULAR CELL ADHESION MOLECULE 1; TCAM1", "OMIM:612757": "GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN 1; GPIHBP1", "OMIM:612758": "TRANSMEMBRANE ANTERIOR POSTERIOR TRANSFORMATION 1; TAPT1", "OMIM:612759": "SYNESTHESIA", "OMIM:612760": "SNF-RELATED KINASE; SNRK", "OMIM:612761": "SWI/SNF-RELATED, MATRIX-ASSOCIATED ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, DEAD/H BOX-CONTAINING, 1; SMARCAD1", "OMIM:612762": "SPTY7-LIKE, STAGA COMPLEX SUBUNIT GAMMA; SUPT7L", "OMIM:612763": "TRANSCRIPTIONAL ADAPTOR 1-LIKE; TADA1L", "OMIM:612764": "ISY1 SPLICING FACTOR HOMOLOG; ISY1", "OMIM:612765": "SFI1 CENTRIN-BINDING PROTEIN; SFI1", "OMIM:612766": "BRISC AND BRCA1 A COMPLEX, MEMBER 1; BABAM1", "OMIM:612767": "DEAH-BOX HELICASE 36; DHX36", "OMIM:612768": "FOLLICULIN-INTERACTING PROTEIN 2; FNIP2", "OMIM:612769": "NONCODING NUCLEAR-ENRICHED ABUNDANT TRANSCRIPT 1; NEAT1", "OMIM:612770": "PHOSPHATIDYLSERINE DECARBOXYLASE; PISD", "OMIM:612771": "DUAL OXIDASE MATURATION FACTOR 1; DUOXA1", "OMIM:612772": "DUAL OXIDASE MATURATION FACTOR 2; DUOXA2", "OMIM:612773": "BASAL CELL ADHESION MOLECULE; BCAM", "OMIM:612774": "TASTE RECEPTOR, TYPE 2, MEMBER 46; TAS2R46", "OMIM:612777": "HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY", "OMIM:612778": "SET DOMAIN-CONTAINING PROTEIN 2; SETD2", "OMIM:612779": "DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD", "OMIM:612784": "HUNTINGTIN-INTERACTING PROTEIN K", "OMIM:612785": "MEGARBANE-JALKH SYNDROME", "OMIM:612786": "CYCLIN Y; CCNY", "OMIM:612787": "PSEUDOURIDYLATE SYNTHASE 10; PUS10", "OMIM:612788": "FORKHEAD BOX Q1; FOXQ1", "OMIM:612790": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 28; ARHGEF28", "OMIM:612791": "ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 3; ZKSCAN3", "OMIM:612792": "PHOSPHATIDYLSERINE SYNTHASE 1; PTDSS1", "OMIM:612793": "PHOSPHATIDYLSERINE SYNTHASE 2; PTDSS2", "OMIM:612795": "POLYUNSATURATED FATTY ACIDS PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; PUFAQTL1", "OMIM:612796": "INFLAMMATORY BOWEL DISEASE 27; IBD27", "OMIM:612797": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12; HDLCQ12", "OMIM:612799": "GLUTAMYL-tRNA SYNTHETASE 2, MITOCHONDRIAL; EARS2", "OMIM:612800": "CYSTEINYL-tRNA SYNTHETASE 2; CARS2", "OMIM:612801": "ISOLEUCYL-tRNA SYNTHETASE 2; IARS2", "OMIM:612802": "VALYL-tRNA SYNTHETASE 2; VARS2", "OMIM:612803": "ASPARAGINYL-tRNA SYNTHETASE 2; NARS2", "OMIM:612804": "SERYL-tRNA SYNTHETASE 2; SARS2", "OMIM:612805": "THREONYL-tRNA SYNTHETASE 2; TARS2", "OMIM:612806": "G PROTEIN-COUPLED RECEPTOR 89B; GPR89B", "OMIM:612807": "LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; LRFN1", "OMIM:612808": "LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 2; LRFN2", "OMIM:612809": "LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3; LRFN3", "OMIM:612810": "LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 4; LRFN4", "OMIM:612811": "LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 5; LRFN5", "OMIM:612812": "PROFILIN 3; PFN3", "OMIM:612814": "SPERMATOGENESIS-ASSOCIATED PROTEIN 18; SPATA18", "OMIM:612815": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 13; ZDHHC13", "OMIM:612816": "UTP18 SMALL SUBUNIT PROCESSOME COMPONENT; UTP18", "OMIM:612817": "KRR1 SMALL SUBUNITPROCESSOME COMPONENT HOMOLOG; KRR1", "OMIM:612818": "NUCLEOLAR AND SPINDLE-ASSOCIATED PROTEIN 1; NUSAP1", "OMIM:612819": "NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 4 HOMOLOG; NOC4L", "OMIM:612820": "NEUROPLASTIN; NPTN", "OMIM:612821": "G PROTEIN-COUPLED RECEPTOR 89A; GPR89A", "OMIM:612822": "UTP20 SMALL SUBUNIT PROCESSOME COMPONENT; UTP20", "OMIM:612823": "TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1D; TAF1D", "OMIM:612824": "SEC14-LIKE LIPID-BINDING PROTEIN 3; SEC14L3", "OMIM:612825": "SEC14-LIKE LIPID-BINDING PROTEIN 4; SEC14L4", "OMIM:612826": "SPHINGOSINE-1-PHOSPHATE PHOSPHATASE 1; SGPP1", "OMIM:612827": "SPHINGOSINE-1-PHOSPHATE PHOSPHATASE 2; SGPP2", "OMIM:612828": "CCAAT/ENHANCER-BINDING PROTEIN, ZETA; CEBPZ", "OMIM:612829": "RAS-ASSOCIATED PROTEIN RAB3C; RAB3C", "OMIM:612830": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 3; DHRS3", "OMIM:612831": "17-BETA-HYDROXYSTEROID DEHYDROGENASE XI; HSD17B11", "OMIM:612832": "17-BETA-HYDROXYSTEROID DEHYDROGENASE XIV; HSD17B14", "OMIM:612833": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7; DHRS7", "OMIM:612834": "PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 1; PHLDB1", "OMIM:612835": "PHOSPHOLIPASE C, ETA-1; PLCH1", "OMIM:612836": "PHOSPHOLIPASE C, ETA-2; PLCH2", "OMIM:612837": "COENZYME 9; COQ9", "OMIM:612839": "TET METHYLCYTOSINE DIOXYGENASE 2; TET2", "OMIM:612842": "RASD FAMILY, MEMBER 2; RASD2", "OMIM:612844": "SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 3; SENP3", "OMIM:612845": "SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 5; SENP5", "OMIM:612846": "SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 7; SENP7", "OMIM:612848": "SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 1; SDHAF1", "OMIM:612849": "UBIQUITIN-SPECIFIC PEPTIDASE 46; USP46", "OMIM:612850": "TUBULIN, BETA-2B; TUBB2B", "OMIM:612851": "NARCOLEPSY 5, SUSCEPTIBILITY TO; NRCLP5", "OMIM:612853": "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7; RLS7", "OMIM:612854": "SEC16 HOMOLOG A, ENDOPLASMIC RETICULUM EXPORT FACTOR; SEC16A", "OMIM:612855": "SEC16 HOMOLOG B, ENDOPLASMIC RETICULUM EXPORT FACTOR; SEC16B", "OMIM:612856": "ASTROTACTIN 2; ASTN2", "OMIM:612857": "PLACENTA-SPECIFIC GENE 9; PLAC9", "OMIM:612858": "OROFACIAL CLEFT 12; OFC12", "OMIM:612859": "T-CELL IMMUNORECEPTOR WITH IMMUNOGLOBULIN AND ITIM DOMAINS; TIGIT", "OMIM:612860": "QUIESCIN Q6 SULFHYDRYL OXIDASE 2; QSOX2", "OMIM:612861": "NOP16 NUCLEOLAR PROTEIN; NOP16", "OMIM:612862": "PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO", "OMIM:612864": "PHOSPHOLIPASE A2, GROUP IVD; PLA2G4D", "OMIM:612865": "PHOSPHATIDYLINOSITOL 4-PHOSPHATE-5-KINASE-LIKE 1; PIP5KL1", "OMIM:612866": "ALG14 UDP-N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT; ALG14", "OMIM:612867": "CORNEAL DYSTROPHY, SUBEPITHELIAL MUCINOUS; SMCD", "OMIM:612869": "ATTRACTIN-LIKE 1; ATRNL1", "OMIM:612870": "PLECKSTRIN HOMOLOGY DOMAIN-INTERACTING PROTEIN; PHIP", "OMIM:612871": "Na+/K+ TRANSPORTING ATPase-INTERACTING 1; NKAIN1", "OMIM:612872": "Na+/K+ TRANSPORTING ATPase-INTERACTING 3; NKAIN3", "OMIM:612873": "Na+/K+ TRANSPORTING ATPase-INTERACTING 4; NKAIN4", "OMIM:612874": "ERYTHROCYTE AMP DEAMINASE DEFICIENCY", "OMIM:612875": "GONADOTROPIN-RELEASING HORMONE RECEPTOR 2; GNRHR2", "OMIM:612876": "SPINOCEREBELLAR ATAXIA 9; SCA9", "OMIM:612878": "EXOPHILIN 5; EXPH5", "OMIM:612879": "MAM DOMAIN-CONTAINING PROTEIN 2; MAMDC2", "OMIM:612880": "SYNAPTOTAGMIN-LIKE 2; SYTL2", "OMIM:612881": "CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL", "OMIM:612882": "MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENAQ2", "OMIM:612883": "MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 3; MENAQ3", "OMIM:612884": "MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENOQ2", "OMIM:612886": "MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 4; MENOQ4", "OMIM:612887": "SEPTIN 11; SEPT11", "OMIM:612888": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8B; LRRC8B", "OMIM:612889": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8C; LRRC8C", "OMIM:612890": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8D; LRRC8D", "OMIM:612891": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8E; LRRC8E", "OMIM:612892": "STATURE QUANTITATIVE TRAIT LOCUS 18; STQTL18", "OMIM:612893": "STATURE QUANTITATIVE TRAIT LOCUS 19; STQTL19", "OMIM:612894": "STATURE QUANTITATIVE TRAIT LOCUS 20; STQTL20", "OMIM:612895": "NUCLEOREDOXIN; NXN", "OMIM:612896": "RAD52 MOTIF-CONTAINING PROTEIN 1; RDM1", "OMIM:612897": "SEPTIN 1; SEPT1", "OMIM:612898": "COENZYME Q4; COQ4", "OMIM:612899": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8", "OMIM:612901": "TUBULIN, BETA-1; TUBB1", "OMIM:612902": "LIPOCALIN 8; LCN8", "OMIM:612903": "LIPOCALIN 9; LCN9", "OMIM:612904": "LIPOCALIN 10; LCN10", "OMIM:612905": "LIPOCALIN 12; LCN12", "OMIM:612906": "RAS-ASSOCIATED PROTEIN RAB32; RAB32", "OMIM:612907": "tRNA NUCLEOTIDYLTRANSFERASE, CCA-ADDING, 1; TRNT1", "OMIM:612909": "RAS-ASSOCIATED PROTEIN RAB6C; RAB6C", "OMIM:612910": "PHD FINGER PROTEIN 23; PHF23", "OMIM:612911": "NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 3; NDUFAF3", "OMIM:612912": "TRANSMEMBRANE PROTEIN 97; TMEM97", "OMIM:612914": "MEDIATOR COMPLEX SUBUNIT 29; MED29", "OMIM:612915": "MEDIATOR COMPLEX SUBUNIT 20; MED20", "OMIM:612919": "LanC-LIKE 2; LANCL2", "OMIM:612920": "THROMBOSPONDIN-TYPE LAMININ G DOMAIN AND EAR REPEATS; TSPEAR", "OMIM:612927": "AVL9 CELL MIGRATION-ASSOCIATED PROTEIN; AVL9", "OMIM:612928": "ISOCHORISMATASE DOMAIN-CONTAINING 2; ISOC2", "OMIM:612929": "MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3", "OMIM:612930": "PHOSPHOTYROSINE INTERACTION DOMAIN-CONTAINING 1; PID1", "OMIM:612931": "PHOSPHOGLYCERATE MUTASE 2; PGAM2", "OMIM:612935": "MYOSIN PHOSPHATASE RHO-INTERACTING PROTEIN; MPRIP", "OMIM:612939": "HEAT-SHOCK 70-KD PROTEIN-BINDING PROTEIN 1; HSPBP1", "OMIM:612941": "PRE-mRNA-PROCESSING FACTOR 40 HOMOLOG A; PRPF40A", "OMIM:612942": "RAS-ASSOCIATED PROTEIN RAB25; RAB25", "OMIM:612944": "RIBONUCLEASE T2; RNASET2", "OMIM:612945": "RAS-ASSOCIATED PROTEIN RAB4B; RAB4B", "OMIM:612947": "MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL APPEARANCE", "OMIM:612948": "STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSMORPHIC FACIAL FEATURES", "OMIM:612950": "PSORIASIS 12, SUSCEPTIBILITY TO; PSORS12", "OMIM:612957": "VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B6QTL1", "OMIM:612958": "TRANSLATIONAL ACTIVATOR OF MITOCHONDRIALLY ENCODED CYTOCHROME c OXIDASE SUBUNIT I; TACO1", "OMIM:612959": "EPITHELIAL SPLICING REGULATORY PROTEIN 1; ESRP1", "OMIM:612960": "EPITHELIAL SPLICING REGULATORY PROTEIN 2; ESRP2", "OMIM:612962": "DYNACTIN 5; DCTN5", "OMIM:612963": "DYNACTIN 6; DCTN6", "OMIM:612966": "RAS-ASSOCIATED PROTEIN RAB22A; RAB22A", "OMIM:612967": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 15; BMIQ15", "OMIM:612968": "CATARACT 34, MULTIPLE TYPES; CTRCT34", "OMIM:612969": "TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 7; TIGD7", "OMIM:612970": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 17, PSEUDOGENE; NBPF17P", "OMIM:612971": "PDZ DOMAIN-CONTAINING 7; PDZD7", "OMIM:612972": "TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 1; TIGD1", "OMIM:612973": "TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 2; TIGD2", "OMIM:612974": "DEP DOMAIN-CONTAINING PROTEIN 6; DEPDC6", "OMIM:612975": "SHORT SLEEP, FAMILIAL NATURAL, 1; FNSS1", "OMIM:612976": "AGE-RELATED HEARING IMPAIRMENT 2; ARHI2", "OMIM:612977": "DCN1 DOMAIN-CONTAINING PROTEIN 4; DCUN1D4", "OMIM:612978": "PRECEREBELLIN 3; CBLN3", "OMIM:612979": "SYS1 GOLGI TRAFFICKING PROTEIN; SYS1", "OMIM:612980": "IMP U3 SMALL NUCLEOLAR RIBONUCLEAR PROTEIN 3; IMP3", "OMIM:612981": "IMP U3 SMALL NUCLEOLAR RIBONUCLEAR PROTEIN 4; IMP4", "OMIM:612982": "MICRO RNA 210; MIR210", "OMIM:612983": "MICRO RNA 106B; MIR106B", "OMIM:612984": "MICRO RNA 93; MIR93", "OMIM:612985": "IROQUOIS HOMEOBOX PROTEIN 3; IRX3", "OMIM:612986": "EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 3; EID3", "OMIM:612987": "NSE4 HOMOLOG A, SMC5-SMC6 COMPLEX COMPONENT; NSMCE4A", "OMIM:612988": "TRANSMEMBRANE PROTEIN 126A; TMEM126A", "OMIM:612990": "ASXL TRANSCRIPTIONAL REGULATOR 1; ASXL1", "OMIM:612991": "ASXL TRANSCRIPTIONAL REGULATOR 2; ASXL2", "OMIM:612992": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 3; NBPF3", "OMIM:612993": "FILAMIN A-INTERACTING PROTEIN 1-LIKE; FILIP1L", "OMIM:612994": "RAS-ASSOCIATED PROTEIN 28; RAB28", "OMIM:612995": "tRNA VALINE (ANTICODON CAC) 1-2; TRV-CAC1-2", "OMIM:612996": "tRNA LYSINE (ANTICODON CTT) 2-3; TRK-CTT2-3", "OMIM:613003": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7; ADHD7", "OMIM:613004": "HUNTINGTIN; HTT", "OMIM:613006": "TYPE 1 DIABETES MELLITUS 24; T1D24", "OMIM:613007": "BILIARY CIRRHOSIS, PRIMARY, 2; PBC2", "OMIM:613008": "BILIARY CIRRHOSIS, PRIMARY, 3; PBC3", "OMIM:613009": "O-PHOSPHOSERINE tRNA-SELENOCYSTEINE tRNA SYNTHASE; SEPSECS", "OMIM:613010": "RIBOFLAVIN KINASE; RFK", "OMIM:613012": "UROCANASE DOMAIN-CONTAINING PROTEIN 1; UROC1", "OMIM:613014": "NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3", "OMIM:613015": "NEUROBLASTOMA, SUSCEPTIBILITY TO, 4; NBLST4", "OMIM:613016": "NEUROBLASTOMA, SUSCEPTIBILITY TO, 5; NBLST5", "OMIM:613017": "NEUROBLASTOMA, SUSCEPTIBILITY TO, 6; NBLST6", "OMIM:613018": "TYROSINE AMINOTRANSFERASE; TAT", "OMIM:613019": "SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 2; SDHAF2", "OMIM:613022": "OXOGLUTARATE DEHYDROGENASE; OGDH", "OMIM:613023": "CENTROSOMAL PROTEIN, 170-KD; CEP170", "OMIM:613025": "SCHIZOPHRENIA 13; SCZD13", "OMIM:613028": "GLIOMA SUSCEPTIBILITY 2; GLM2", "OMIM:613030": "GLIOMA SUSCEPTIBILITY 5; GLM5", "OMIM:613031": "GLIOMA SUSCEPTIBILITY 6; GLM6", "OMIM:613032": "GLIOMA SUSCEPTIBILITY 7; GLM7", "OMIM:613033": "GLIOMA SUSCEPTIBILITY 8; GLM8", "OMIM:613035": "HEARING LOSS, NOISE-INDUCED, SUSCEPTIBILITY TO; NIHL", "OMIM:613036": "PEPTIDASE, MITOCHONDRIAL PROCESSING, ALPHA; PMPCA", "OMIM:613037": "INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD; INPP5E", "OMIM:613039": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1-LIKE; CHD1L", "OMIM:613040": "CCDC26 LONG NONCODING RNA; CCDC26", "OMIM:613041": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A1; FAM90A1", "OMIM:613042": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A3; FAM90A3", "OMIM:613043": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A5; FAM90A5", "OMIM:613044": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A7; FAM90A7", "OMIM:613045": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A8; FAM90A8", "OMIM:613046": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A9; FAM90A9", "OMIM:613047": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A10; FAM90A10", "OMIM:613048": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A12; FAM90A12", "OMIM:613049": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A13; FAM90A13", "OMIM:613050": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A14; FAM90A14", "OMIM:613051": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A15; FAM90A15", "OMIM:613052": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A18; FAM90A18", "OMIM:613053": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A19; FAM90A19", "OMIM:613054": "FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A20; FAM90A20", "OMIM:613055": "ATRIAL FIBRILLATION, FAMILIAL, 8; ATFB8", "OMIM:613056": "LUC7-LIKE 2 PRE-mRNA SPLICING FACTOR; LUC7L2", "OMIM:613057": "MICRO RNA 26A2; MIR26A2", "OMIM:613058": "BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2; BCC2", "OMIM:613059": "BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 3; BCC3", "OMIM:613061": "BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4; BCC4", "OMIM:613062": "BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5; BCC5", "OMIM:613063": "BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 6; BCC6", "OMIM:613064": "DERMATITIS, ATOPIC, 7; ATOD7", "OMIM:613066": "PBX/KNOTTED 1 HOMEOBOX 2; PKNOX2", "OMIM:613067": "LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2; ALL2", "OMIM:613069": "PHD FINGER PROTEIN 10; PHF10", "OMIM:613072": "LIPOXYGENASE HOMOLOGY DOMAIN-CONTAINING 1; LOXHD1", "OMIM:613081": "LYSINE DEMETHYLASE 1B; KDM1B", "OMIM:613082": "ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 2; ATP2C2", "OMIM:613083": "LISTERIN E3 UBIQUITIN PROTEIN LIGASE 1; LTN1", "OMIM:613084": "MYELIN TRANSCRIPTION FACTOR 1-LIKE; MYT1L", "OMIM:613085": "GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C", "OMIM:613088": "PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2", "OMIM:613098": "INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC", "OMIM:613099": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5", "OMIM:613103": "SERINE/ARGININE REPETITIVE MATRIX PROTEIN 4; SRRM4", "OMIM:613104": "CALCIUM CHANNEL FLOWER-DOMAIN CONTAINING PROTEIN 1; CACFD1", "OMIM:613106": "VERTIGO, BENIGN RECURRENT, 2; BRV2", "OMIM:613109": "GM2 ACTIVATOR; GM2A", "OMIM:613110": "BLCAP APOPTOSIS-INDUCING FACTOR; BLCAP", "OMIM:613111": "CATHEPSIN A; CTSA", "OMIM:613113": "NEUROFIBROMIN 1; NF1", "OMIM:613114": "RETICULOPHAGY REGULATOR 1; RETREG1", "OMIM:613117": "SMALL NUCLEOLAR RNA, C/D BOX, 50A; SNORD50A", "OMIM:613121": "NEXILIN F-ACTIN-BINDING PROTEIN; NEXN", "OMIM:613125": "NUCLEAR RECEPTOR-INTERACTING PROTEIN 3; NRIP3", "OMIM:613126": "PROLINE/SERINE-RICH COILED-COIL PROTEIN 1; PSRC1", "OMIM:613127": "CHORDIN-LIKE 2; CHRDL2", "OMIM:613128": "STN1, CST COMPLEX SUBUNIT; STN1", "OMIM:613129": "CONSERVED TELOMERE MAINTENANCE COMPONENT 1; CTC1", "OMIM:613130": "TEN1, CST COMPLEX SUBUNIT; TEN1", "OMIM:613131": "MICRO RNA 449A; MIR449A", "OMIM:613132": "MICRO RNA 449B; MIR449B", "OMIM:613133": "TETRASPANIN 2; TSPAN2", "OMIM:613134": "TETRASPANIN 3; TSPAN3", "OMIM:613136": "TETRASPANIN 5; TSPAN5", "OMIM:613137": "TETRASPANIN 9; TSPAN9", "OMIM:613138": "TETRASPANIN 12; TSPAN12", "OMIM:613139": "TETRASPANIN 13; TSPAN13", "OMIM:613140": "TETRASPANIN 15; TSPAN15", "OMIM:613141": "DELTEX E3 UBIQUITIN LIGASE 2; DTX2", "OMIM:613142": "DELTEX E3 UBIQUITIN LIGASE 3; DTX3", "OMIM:613143": "DELTEX E3 UBIQUITIN LIGASE 3L; DTX3L", "OMIM:613145": "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14; SLEB14", "OMIM:613146": "MICRO RNA 184; MIR184", "OMIM:613147": "MICRO RNA 205; MIR205", "OMIM:613149": "CDKN2B ANTISENSE RNA; CDKN2BAS", "OMIM:613160": "VON WILLEBRAND FACTOR; VWF", "OMIM:613164": "PARKINSON DISEASE 16; PARK16", "OMIM:613165": "CALCIUM-ACTIVATED NUCLEOTIDASE 1; CANT1", "OMIM:613166": "DOUBLECORTIN-LIKE KINASE 2; DCLK2", "OMIM:613167": "DOUBLECORTIN-LIKE KINASE 3; DCLK3", "OMIM:613168": "SERPIN PEPTIDASE INHIBITOR, CLADE F, MEMBER 2; SERPINF2", "OMIM:613169": "KELCH DOMAIN-CONTAINING PROTEIN 8B; KLHDC8B", "OMIM:613170": "TETRASPANIN 1; TSPAN1", "OMIM:613171": "RNA-BINDING MOTIF PROTEIN 20; RBM20", "OMIM:613173": "NEURONAL GROWTH REGULATOR 1; NEGR1", "OMIM:613175": "SMG8 NONSENSE-MEDIATED mRNA DECAY FACTOR; SMG8", "OMIM:613176": "SMG9 NONSENSE-MEDIATED mRNA DECAY FACTOR; SMG9", "OMIM:613178": "CAP-BINDING COMPLEX-DEPENDENT TRANSLATION INITIATION FACTOR; CTIF", "OMIM:613181": "BOLA FAMILY MEMBER 1; BOLA1", "OMIM:613182": "BOLA FAMILY MEMBER 2; BOLA2", "OMIM:613183": "BOLA FAMILY MEMBER 3; BOLA3", "OMIM:613184": "TRIPARTITE MOTIF-CONTAINING PROTEIN 68; TRIM68", "OMIM:613185": "MICRO RNA 95; MIR95", "OMIM:613186": "MICRO RNA 100; MIR100", "OMIM:613187": "MICRO RNA 103-1; MIR103-1", "OMIM:613188": "MICRO RNA 103-2; MIR103-2", "OMIM:613189": "MICRO RNA 107; MIR107", "OMIM:613190": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 1; DNAAF1", "OMIM:613191": "DUAL-SPECIFICITY PHOSPHATASE 13; DUSP13", "OMIM:613196": "ETAA1 ACTIVATOR OF ATR KINASE; ETAA1", "OMIM:613197": "TRAF-TYPE ZINC FINGER DOMAIN-CONTAINING 1; TRAFD1", "OMIM:613198": "LYSINE METHYLTRANSFERASE 5C; KMT5C", "OMIM:613199": "TAO KINASE 2; TAOK2", "OMIM:613200": "PDS5 COHESIN-ASSOCIATED FACTOR A; PDS5A", "OMIM:613201": "CHROMOSOME TRANSMISSION FIDELITY FACTOR 18; CHTF18", "OMIM:613202": "CHROMOSOME TRANSMISSION FIDELITY FACTOR 8; CHTF8", "OMIM:613203": "DNA REPLICATION AND SISTER CHROMATID COHESION 1; DSCC1", "OMIM:613207": "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8; ASRT8", "OMIM:613208": "XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC", "OMIM:613209": "TRANSMEMBRANE PROTEIN 181; TMEM181", "OMIM:613210": "DIPHTHAMIDE BIOSYNTHESIS PROTEIN 7; DPH7", "OMIM:613212": "ALANYL-tRNA SYNTHETASE DOMAIN-CONTAINING 1; AARSD1", "OMIM:613213": "CYTOCHROME b5 REDUCTASE 3; CYB5R3", "OMIM:613214": "WD REPEAT-CONTAINING PROTEIN 72; WDR72", "OMIM:613215": "CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME", "OMIM:613218": "CYTOCHROME b5, TYPE A (MICROSOMAL); CYB5A", "OMIM:613219": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 2; FGQTL2", "OMIM:613220": "TRANSMEMBRANE PROTEIN 18; TMEM18", "OMIM:613221": "MITOCHONDRIAL CARRIER HOMOLOG 2; MTCH2", "OMIM:613222": "GLUCOSAMINE-6-PHOSPHATE DEAMINASE 2; GNPDA2", "OMIM:613223": "LEPROSY, SUSCEPTIBILITY TO, 5; LPRS5", "OMIM:613226": "ZINC FINGER PROTEIN 296; ZNF296", "OMIM:613228": "ASPARTYLGLUCOSAMINIDASE; AGA", "OMIM:613230": "PEPTIDASE D; PEPD", "OMIM:613231": "KINESIN FAMILY MEMBER 26A; KIF26A", "OMIM:613232": "RNA-BINDING MOTIF PROTEIN 42; RBM42", "OMIM:613233": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 3; FGQTL3", "OMIM:613234": "NEUTRAL CHOLESTEROL ESTER HYDROLASE 1; NCEH1", "OMIM:613236": "POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 18; KCNJ18", "OMIM:613238": "SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3; SPDA3", "OMIM:613240": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1C; PPP1R1C", "OMIM:613241": "PSEUDOPILI ANNULATI", "OMIM:613242": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14C; PPP1R14C", "OMIM:613245": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12C; PPP1R12C", "OMIM:613246": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1A; PPP1R1A", "OMIM:613247": "PERILIPIN 4; PLIN4", "OMIM:613248": "PERILIPIN 5; PLIN5", "OMIM:613249": "ENDOGENOUS BORNA-LIKE N ELEMENT-CONTAINING PROTEIN 1; EBLN1", "OMIM:613250": "ENDOGENOUS BORNA-LIKE N ELEMENT-CONTAINING PROTEIN 2; EBLN2", "OMIM:613256": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14D; PPP1R14D", "OMIM:613257": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15B; PPP1R15B", "OMIM:613258": "CHROMOSOME 18 OPEN READING FRAME 54; C18ORF54", "OMIM:613259": "REPETIN; RPTN", "OMIM:613260": "KERATINOCYTE PROLINE-RICH PROTEIN; KPRP", "OMIM:613261": "PROTOGENIN; PRTG", "OMIM:613262": "RIBOSOMAL PROTEIN L24 DOMAIN-CONTAINING PROTEIN 1; RSL24D1", "OMIM:613263": "SMALL NUCLEOLAR RNA HOST GENE 5; SNHG5", "OMIM:613264": "SMALL NUCLEOLAR RNA, C/D BOX; SNORD50B", "OMIM:613269": "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 5; FECD5", "OMIM:613271": "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 7; FECD7", "OMIM:613272": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3; KCTD3", "OMIM:613273": "INST3- AND NABP-INTERACTING PROTEIN; INIP", "OMIM:613274": "MOLYBDENUM COFACTOR SULFURASE; MOCOS", "OMIM:613275": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 16B; PPP1R16B", "OMIM:613276": "U6 SMALL NUCLEAR RNA BIOGENESIS PHOSPHODIESTERASE 1; USB1", "OMIM:613277": "TRANSMEMBRANE PROTEIN 216; TMEM216", "OMIM:613278": "SLX4 STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT; SLX4", "OMIM:613279": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 14: ZC3H14", "OMIM:613281": "SORTING NEXIN 20; SNX20", "OMIM:613283": "GLUTAREDOXIN, CYSTEINE-RICH, 1; GRXCR1", "OMIM:613284": "HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HCHGQ3", "OMIM:613288": "TRIPARTITE MOTIF-CONTAINING PROTEIN 72; TRIM72", "OMIM:613289": "ATAXIN 8; ATXN8", "OMIM:613290": "HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO; CIHL", "OMIM:613292": "DENN/MADD DOMAIN-CONTAINING PROTEIN 1B; DENND1B", "OMIM:613293": "SH3 AND PX DOMAINS-CONTAINING PROTEIN 2B; SH3PXD2B", "OMIM:613294": "SUMO1-ACTIVATING ENZYME, SUBUNIT 1; SAE1", "OMIM:613295": "UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 2; UBA2", "OMIM:613296": "LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 4, BETA; LAPTM4B", "OMIM:613297": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 6; MARCHF6", "OMIM:613298": "TOPBP1-INTERACTING CHECKPOINT AND REPLICATION REGULATOR; TICRR", "OMIM:613299": "FAMILY WITH SEQUENCE SIMILARITY 13, MEMBER A; FAM13A", "OMIM:613300": "FAM13A OPPOSITE STRAND; FAM13AOS", "OMIM:613301": "FEZ FAMILY ZINC FINGER PROTEIN 1; FEZF1", "OMIM:613302": "AlkB HOMOLOG 4, LYSINE DEMETHYLASE; ALKBH4", "OMIM:613303": "AlkB HOMOLOG 5, RNA DEMETHYLASE; ALKBH5", "OMIM:613304": "AlkB HOMOLOG 6; ALKBH6", "OMIM:613305": "AlkB HOMOLOG 7; ALKBH7", "OMIM:613306": "AlkB HOMOLOG 8, tRNA METHYLTRANSFERASE; ALKBH8", "OMIM:613311": "LYR MOTIF-CONTAINING PROTEIN 4; LYRM4", "OMIM:613314": "RIBOSOMAL PROTEIN L37A; RPL37A", "OMIM:613315": "RIBOSOMAL PROTEIN L41; RPL41", "OMIM:613316": "WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 4; WDFY4", "OMIM:613317": "DDB1- AND CUL4-ASSOCIATED FACTOR 11; DCAF11", "OMIM:613318": "MIYOSHI MUSCULAR DYSTROPHY 2; MMD2", "OMIM:613321": "GLUCOSIDE XYLOSYLTRANSFERASE 1; GXYLT1", "OMIM:613322": "GLUCOSIDE XYLOSYLTRANSFERASE 2; GXYLT2", "OMIM:613323": "FERM AND PDZ DOMAINS-CONTAINING PROTEIN 2; FRMPD2", "OMIM:613324": "SPERMATOGENESIS-ASSOCIATED PROTEIN 13; SPATA13", "OMIM:613326": "DIHYDROPYRIMIDINASE; DPYS", "OMIM:613331": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 1; MARCHF1", "OMIM:613332": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 2; MARCHF2", "OMIM:613333": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 3; MARCHF3", "OMIM:613334": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 7; MARCHF7", "OMIM:613335": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 8; MARCHF8", "OMIM:613336": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 9; MARCHF9", "OMIM:613337": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 10; MARCHF10", "OMIM:613338": "MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 11; MARCHF11", "OMIM:613340": "EPILEPSY, HOT WATER, 2; HWE2", "OMIM:613343": "HANDIGODU JOINT DISEASE", "OMIM:613344": "KIAA1549 GENE; KIAA1549", "OMIM:613346": "SHISA FAMILY, MEMBER 9; SHISA9", "OMIM:613348": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 3", "OMIM:613349": "ORNITHINE AMINOTRANSFERASE; OAT", "OMIM:613350": "SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3", "OMIM:613351": "RHO GTPase-ACTIVATING PROTEIN 18; ARHGAP18", "OMIM:613352": "ARGININE/SERINE-RICH COILED-COIL PROTEIN 1; RSRC1", "OMIM:613354": "TAPERIN; TPRN", "OMIM:613356": "TLR4 INTERACTOR WITH LEUCINE-RICH REPEATS; TRIL", "OMIM:613357": "FIBRINOGEN C DOMAIN-CONTAINING PROTEIN 1; FIBCD1", "OMIM:613358": "ALDEHYDE DEHYDROGENASE 16 FAMILY, MEMBER A1; ALDH16A1", "OMIM:613359": "LY6/PLAUR DOMAIN-CONTAINING PROTEIN 6; LYPD6", "OMIM:613360": "DAMAGE-REGULATED AUTOPHAGY MODULATOR 2; DRAM2", "OMIM:613361": "SOLUTE CARRIER FAMILY 18, MEMBER B1; SLC18B1", "OMIM:613362": "CDK2-INTERACTING PROTEIN; CINP", "OMIM:613363": "WD REPEAT-CONTAINING PROTEIN 34; WDR34", "OMIM:613365": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 6A1; SLCO6A1", "OMIM:613366": "SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 6; SLC10A6", "OMIM:613367": "LIN54, C. ELEGANS, HOMOLOG OF; LIN54", "OMIM:613368": "CARNOSINE SYNTHASE 1; CARNS1", "OMIM:613369": "DEAD-BOX HELICASE 42; DDX42", "OMIM:613372": "UFM1-SPECIFIC LIGASE 1; UFL1", "OMIM:613373": "YEATS DOMAIN-CONTAINING PROTEIN 2; YEATS2", "OMIM:613374": "COILED-COIL DOMAIN-CONTAINING PROTEIN 101; CCDC101", "OMIM:613377": "SH3 DOMAIN-CONTAINING RING FINGER PROTEIN 2; SH3RF2", "OMIM:613378": "AIG2-LIKE DOMAIN-CONTAINING PROTEIN 1; A2LD1", "OMIM:613379": "CARBOXYMETHYLENEBUTENOLIDASE-LIKE PROTEIN; CMBL", "OMIM:613380": "H6 FAMILY HOMEOBOX 3; HMX3", "OMIM:613381": "CYSTATHIONINE BETA-SYNTHASE; CBS", "OMIM:613383": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 54; ANKRD54", "OMIM:613384": "CYCLIN L1; CCNL1", "OMIM:613386": "PROTEASOME MATURATION PROTEIN; POMP", "OMIM:613389": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1C1; SLCO1C1", "OMIM:613393": "BIRBECK GRANULE DEFICIENCY", "OMIM:613394": "MICRO RNA 138-1; MIR138-1", "OMIM:613395": "MICRO RNA 138-2; MIR138-2", "OMIM:613396": "DOWN SYNDROME CRITICAL REGION GENE 8; DSCR8", "OMIM:613397": "ADVILLIN; AVIL", "OMIM:613400": "ACIREDUCTONE DIOXYGENASE 1; ADI1", "OMIM:613401": "VPS33B-INTERACTING PROTEIN, APICAL-BASOLATERAL POLARITY REGULATOR, SPE39 HOMOLOG; VIPAS39", "OMIM:613403": "TRANSMEMBRANE PROTEIN 127; TMEM127", "OMIM:613405": "MICRO RNA 2861; MIR2861", "OMIM:613407": "LEPROSY, SUSCEPTIBILITY TO, 6; LPRS6", "OMIM:613408": "COILED-COIL DOMAIN-CONTAINING PROTEIN 122; CCDC122", "OMIM:613409": "LACCASE (MULTICOPPER REDUCTASE) DOMAIN-CONTAINING PROTEIN 1; LACC1", "OMIM:613410": "AUTISM, SUSCEPTIBILITY TO, 16; AUTS16", "OMIM:613413": "TRANSMEMBRANE PROTEIN 106B; TMEM106B", "OMIM:613414": "INTERLEUKIN 17 RECEPTOR E-LIKE; IL17REL", "OMIM:613415": "CREATINE KINASE, MITOCHONDRIAL 1A; CKMT1A", "OMIM:613416": "SCINDERIN; SCIN", "OMIM:613417": "FAMILY WITH SEQUENCE SIMILARITY 48, MEMBER A; FAM48A", "OMIM:613418": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15", "OMIM:613419": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 4; ZSCAN4", "OMIM:613420": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 1; KCTD1", "OMIM:613421": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 10; KCTD10", "OMIM:613422": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 2; KCTD2", "OMIM:613423": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 16; KCTD16", "OMIM:613425": "PHOTORECEPTOR CILIUM ACTIN REGULATOR; PCARE", "OMIM:613427": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 16; ANAPC16", "OMIM:613429": "HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 2; HAUS2", "OMIM:613430": "HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 3; HAUS3", "OMIM:613431": "HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 4; HAUS4", "OMIM:613432": "HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 5; HAUS5", "OMIM:613433": "HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 6; HAUS6", "OMIM:613434": "HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 8; HAUS8", "OMIM:613436": "AUTISM, SUSCEPTIBILITY TO, 17; AUTS17", "OMIM:613437": "FCH DOMAIN ONLY PROTEIN 1; FCHO1", "OMIM:613438": "FCH DOMAIN ONLY PROTEIN 2; FCHO2", "OMIM:613439": "CONSORTIN; CNST", "OMIM:613440": "STATURE QUANTITATIVE TRAIT LOCUS 21; STQTL21", "OMIM:613441": "TRANSCOBALAMIN II; TCN2", "OMIM:613442": "PENTRAXIN 4; PTX4", "OMIM:613444": "CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB", "OMIM:613446": "CENTROSOMAL PROTEIN, 120-KD; CEP120", "OMIM:613447": "SPINDLE- AND CENTRIOLE-ASSOCIATED PROTEIN 1; SPICE1", "OMIM:613448": "MITOTIC SPINDLE ORGANIZING PROTEIN 1; MZT1", "OMIM:613449": "FAMILY WITH SEQUENCE SIMILARITY 128, MEMBER A; FAM128A", "OMIM:613450": "MITOTIC SPINDLE-ORGANIZING PROTEIN 2B; MZT2B", "OMIM:613452": "CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT GAMMA; CATSPERG", "OMIM:613455": "MIA SH3 DOMAIN ER EXPORT FACTOR 3; MIA3", "OMIM:613459": "BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 2; BWQTL2", "OMIM:613460": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 6; FGQTL6", "OMIM:613461": "LEPTIN RECEPTOR OVERLAPPING TRANSCRIPT; LEPROT", "OMIM:613462": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 4; FGQTL4", "OMIM:613463": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5; FGQTL5", "OMIM:613465": "NME/NM23 FAMILY, MEMBER 7; NME7", "OMIM:613466": "PREFOLDIN 2; PFDN2", "OMIM:613467": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 6; ZCCHC6", "OMIM:613468": "N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1", "OMIM:613469": "HEPARANASE 2; HPSE2", "OMIM:613472": "UNC51-LIKE KINASE 3; ULK3", "OMIM:613473": "WD REPEAT-CONTAINING PROTEIN 7; WDR7", "OMIM:613474": "ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 2B; ZFAND2B", "OMIM:613475": "RIBOSOMAL RNA-PROCESSING 36; RRP36", "OMIM:613476": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 6; MFSD6", "OMIM:613478": "COILED-COIL DOMAIN-CONTAINING PROTEIN 106; CCDC106", "OMIM:613479": "CENTROSOMAL PROTEIN 131; CEP131", "OMIM:613481": "COILED-COIL DOMAIN-CONTAINING PROTEIN 62: CCDC62", "OMIM:613482": "CYCLIN L2; CCNL2", "OMIM:613483": "BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E22; BHLHE22", "OMIM:613484": "SPEN FAMILY TRANSCRIPTIONAL REPRESSOR; SPEN", "OMIM:613486": "MICRO RNA 33B; MIR33B", "OMIM:613487": "MICRO RNA 212; MIR212", "OMIM:613491": "ALKALINE CERAMIDASE 1; ACER1", "OMIM:613492": "ALKALINE CERAMIDASE 2; ACER2", "OMIM:613497": "LIPASE A, LYSOSOMAL ACID; LIPA", "OMIM:613498": "SEX HORMONE-BINDING GLOBULIN CIRCULATING LEVEL QUANTITATIVE TRAIT LOCUS; SXGQTL1", "OMIM:613499": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER A; HIST1H2AA", "OMIM:613503": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-2; HLA-DQA2", "OMIM:613504": "ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 21; ZFYVE21", "OMIM:613505": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 26; LRRC26", "OMIM:613508": "SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1; SSQTL1", "OMIM:613510": "LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 1; LAMTOR1", "OMIM:613511": "SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 9; SPINK9", "OMIM:613512": "ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 6; ZBED6", "OMIM:613513": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 11A; ZC3H11A", "OMIM:613514": "ZONA PELLUCIDA GLYCOPROTEIN 4; ZP4", "OMIM:613515": "AUTOPHAGY-RELATED 14; ATG14", "OMIM:613516": "RUN DOMAIN- AND CYSTEINE-RICH DOMAIN-CONTAINING BECLIN-1-INTERACTING PROTEIN; RUBCN", "OMIM:613518": "DERMATITIS, ATOPIC, 8; ATOD8", "OMIM:613519": "DERMATITIS, ATOPIC, 9; ATOD9", "OMIM:613520": "FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 6; FGD6", "OMIM:613521": "UROPORPHYRINOGEN DECARBOXYLASE; UROD", "OMIM:613522": "OPSIN 1, SHORT-WAVE-SENSITIVE; OPN1SW", "OMIM:613523": "CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME", "OMIM:613524": "SHH SIGNALING AND CILIOGENESIS REGULATOR SDCCAG8; SDCCAG8", "OMIM:613525": "SEEK1 GENE", "OMIM:613526": "SPR1 GENE", "OMIM:613527": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 27; DNAJC27", "OMIM:613528": "SYNAPTOTAGMIN 9; SYT9", "OMIM:613529": "CENTROSOMAL PROTEIN, 152-KD; CEP152", "OMIM:613531": "PHOSPHATASE AND TENSIN HOMOLOG PSEUDOGENE; PTENP1", "OMIM:613532": "RAS-ASSOCIATED PROTEIN RAB8B; RAB8B", "OMIM:613533": "CHROMOSOME 17q21.31 DUPLICATION SYNDROME", "OMIM:613534": "FANCD2/FANCI-ASSOCIATED NUCLEASE 1; FAN1", "OMIM:613535": "KIAA0319-LIKE; KIAA0319L", "OMIM:613536": "LEUCINE-, GLUTAMATE-, AND LYSINE-RICH PROTEIN 1; LEKR1", "OMIM:613537": "NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 5; NLRC5", "OMIM:613538": "FEM1 HOMOLOG A; FEM1A", "OMIM:613539": "FEM1 HOMOLOG B; FEM1B", "OMIM:613540": "SERINE PALMITOYLTRANSFERASE, SMALL SUBUNIT, A; SPTSSA", "OMIM:613541": "MITOCHONDRIAL TRANSLATION RELEASE FACTOR IN RESCUE; MTRFR", "OMIM:613542": "MITOCHONDRIAL TRANSLATIONAL RELEASE FACTOR 1-LIKE; MTRF1L", "OMIM:613543": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 5A1; SLCO5A1", "OMIM:613545": "MACROSTOMIA, ISOLATED", "OMIM:613547": "STATURE QUANTITATIVE TRAIT LOCUS 22; STQTL22", "OMIM:613548": "STATURE QUANTITATIVE TRAIT LOCUS 23; STQTL23", "OMIM:613549": "STATURE QUANTITATIVE TRAIT LOCUS 24; STQTL24", "OMIM:613551": "AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6", "OMIM:613552": "GAMMA-SECRETASE-ACTIVATING PROTEIN; GSAP", "OMIM:613553": "X-PROLYL AMINOPEPTIDASE 3; XPNPEP3", "OMIM:613555": "TET METHYLCYTOSINE DIOXYGENASE 3; TET3", "OMIM:613556": "MICRO RNA 659; MIR659", "OMIM:613560": "N-TERMINAL X-PRO-LYS N-METHYLTRANSFERASE 1; NTMT1", "OMIM:613562": "Fc RECEPTOR-LIKE PROTEIN 6; FCRL6", "OMIM:613564": "CHROMOSOME 2p12-p11.2 DELETION SYNDROME", "OMIM:613565": "UBIQUITINATION FACTOR E4B; UBE4B", "OMIM:613566": "FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6", "OMIM:613567": "ZINC FINGER, MYM-TYPE 6; ZMYM6", "OMIM:613568": "ZINC FINGER, MYM-TYPE 4; ZMYM4", "OMIM:613569": "SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 2; SUN2", "OMIM:613570": "LIPID DROPLET ASSOCIATED HYDROLASE; LDAH", "OMIM:613572": "G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 6, MEMBER A; GPRC6A", "OMIM:613574": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 39B; TTC39B", "OMIM:613577": "TBC1 DOMAIN FAMILY, MEMBER 24; TBC1D24", "OMIM:613578": "PROTEASE, SERINE, 3; PRSS3", "OMIM:613579": "C-TYPE LECTIN DOMAIN FAMILY 6, MEMBER A; CLEC6A", "OMIM:613580": "WD REPEAT-CONTAINING PLANAR CELL POLARITY EFFECTOR; WDPCP", "OMIM:613583": "WD REPEAT-CONTAINING PROTEIN 62; WDR62", "OMIM:613584": "ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER L2; ALDH1L2", "OMIM:613585": "TRANSMEMBRANE PROTEIN 147; TMEM147", "OMIM:613586": "NIN1-BINDING PROTEIN 1 HOMOLOG; NOB1", "OMIM:613588": "C-TYPE LECTIN DOMAIN FAMILY 3, MEMBER A; CLEC3A", "OMIM:613589": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; LDLCQ6", "OMIM:613590": "BUTYROPHILIN, SUBFAMILY 2, MEMBER A1; BTN2A1", "OMIM:613591": "BUTYROPHILIN, SUBFAMILY 2, MEMBER A2; BTN2A2", "OMIM:613592": "BUTYROPHILIN, SUBFAMILY 2, MEMBER A3; BTN2A3", "OMIM:613593": "BUTYROPHILIN, SUBFAMILY 3, MEMBER A1; BTN3A1", "OMIM:613594": "BUTYROPHILIN, SUBFAMILY 3, MEMBER A2; BTN3A2", "OMIM:613595": "BUTYROPHILIN, SUBFAMILY 3, MEMBER A3; BTN3A3", "OMIM:613596": "FAMILY WITH SEQUENCE SIMILARITY 161, MEMBER A; FAM161A", "OMIM:613597": "4-HYDROXY-2-OXOGLUTARATE ALDOLASE 1; HOGA1", "OMIM:613598": "ZINC FINGER PROTEIN 513; ZNF513", "OMIM:613599": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 12, LYSOPHOSPHOLIPASE; ABHD12", "OMIM:613600": "TORSADE DE POINTES, SHORT-COUPLED VARIANT", "OMIM:613601": "EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION", "OMIM:613602": "WD REPEAT-CONTAINING PROTEIN 35; WDR35", "OMIM:613605": "BBS PROTEIN COMPLEX-INTERACTING PROTEIN 1; BBIP1", "OMIM:613607": "THYMOCYTE SELECTION-ASSOCIATED PROTEIN; THEMIS", "OMIM:613609": "HOMEOSTATIC IRON REGULATOR; HFE", "OMIM:613613": "MICRO RNA 208B; MIR208B", "OMIM:613614": "MICRO RNA 499; MIR499", "OMIM:613619": "SCAVENGER RECEPTOR CLASS F, MEMBER 2; SCARF2", "OMIM:613620": "TBC1 DOMAIN FAMILY, MEMBER 10B; TBC1D10B", "OMIM:613621": "NUCLEOTIDE-BINDING PROTEIN-LIKE PROTEIN; NUBPL", "OMIM:613622": "FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; FOXRED1", "OMIM:613623": "AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA", "OMIM:613624": "ZINC FINGER PROTEIN 592; ZNF592", "OMIM:613627": "TSUKAHARA SYNDROME", "OMIM:613629": "PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL COMPONENT 2; PIEZO2", "OMIM:613631": "WASH COMPLEX, SUBUNIT 2C; WASHC2C", "OMIM:613632": "WASH COMPLEX, SUBUNIT 1; WASHC1", "OMIM:613633": "DENN/MADD DOMAIN-CONTAINING PROTEIN 1A; DENND1A", "OMIM:613634": "DENN/MADD DOMAIN-CONTAINING PROTEIN 1C; DENND1C", "OMIM:613635": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 1; EIF2AK1", "OMIM:613636": "TUBERCULIN SKIN TEST REACTIVITY, ABSENCE OF", "OMIM:613637": "TUBERCULIN SKIN TEST REACTIVITY QUANTITATIVE TRAIT LOCUS", "OMIM:613639": "ADHESION G PROTEIN-COUPLED RECEPTOR D1; ADGRD1", "OMIM:613643": "PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "OMIM:613644": "ACTIVATING TRANSCRIPTION FACTOR 7-INTERACTING PROTEIN; ATF7IP", "OMIM:613645": "ACTIVATING TRANSCRIPTION FACTOR 7-INTERACTING PROTEIN 2; ATF7IP2", "OMIM:613648": "MATERNALLY EXPRESSED GENE 8; MEG8", "OMIM:613649": "SMALL NUCLEOLAR RNA, C/D BOX, 112; SNORD112", "OMIM:613650": "SMALL NUCLEOLAR RNA, C/D BOX, 113-1; SNORD113-1", "OMIM:613651": "SMALL NUCLEOLAR RNA, C/D BOX, 114-1; SNORD114-1", "OMIM:613653": "ADAPTOR-RELATED PROTEIN COMPLEX 5, ZETA-1 SUBUNIT; AP5Z1", "OMIM:613654": "MICRO RNA 380; MIR380", "OMIM:613655": "POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 18; KCNK18", "OMIM:613656": "MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 13; MGR13", "OMIM:613663": "SHQ1, H/ACA RIBONUCLEOPROTEIN ASSEMBLY FACTOR; SHQ1", "OMIM:613664": "SMOOTHELIN-LIKE 1; SMTNL1", "OMIM:613665": "ATYPICAL CHEMOKINE RECEPTOR 1; ACKR1", "OMIM:613666": "ALG11 ALPHA-1,2-MANNOSYLTRANSFERASE; ALG11", "OMIM:613667": "SINE OCULIS-BINDING PROTEIN HOMOLOG; SOBP", "OMIM:613669": "MITOCHONDRIAL POLY(A) POLYMERASE; MTPAP", "OMIM:613682": "MICRO RNA 130B; MIR130B", "OMIM:613683": "SOLUTE CARRIER FAMILY 50 (SUGAR TRANSPORTER), MEMBER 1; SLC50A1", "OMIM:613687": "PARP1-BINDING PROTEIN; PARPBP", "OMIM:613691": "GRAM DOMAIN-CONTAINING PROTEIN 4; GRAMD4", "OMIM:613692": "TERMINAL URIDYLYL TRANSFERASE 4; TUT4", "OMIM:613696": "UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I)-LIKE 1; UBTFL1", "OMIM:613698": "SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; SLC25A20", "OMIM:613699": "GLYCOSYLTRANSFERASE 6 DOMAIN-CONTAINING 1; GLT6D1", "OMIM:613700": "SUPERNUMERARY DER(22)t(8;22) SYNDROME", "OMIM:613701": "MICRO RNA 328; MIR328", "OMIM:613709": "EUKARYOTIC TRANSLATION INITIATION FACTOR 2D; EIF2D", "OMIM:613713": "PCI DOMAIN-CONTAINING PROTEIN 2; PCID2", "OMIM:613714": "NATURAL KILLER CELL CYTOTOXICITY RECEPTOR 3 LIGAND 1; NCR3LG1", "OMIM:613715": "POLYMERASE I, RNA, SUBUNIT D; POLR1D", "OMIM:613716": "MICRO RNA 661; MIR661", "OMIM:613719": "METHIONINE SULFOXIDE REDUCTASE B3; MSRB3", "OMIM:613725": "SOLUTE CARRIER FAMILY 25, MEMBER 17; SLC25A27", "OMIM:613726": "ANOCTAMIN 10; ANO10", "OMIM:613727": "KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 13; KBTBD13", "OMIM:613729": "CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB", "OMIM:613733": "MENIN 1 ; MEN1", "OMIM:613734": "COILED-COIL DOMAIN-CONTAINING PROTEIN 115; CCDC115", "OMIM:613738": "ALKYLGLYCEROL MONOOXYGENASE; AGMO", "OMIM:613739": "THYMOCYTE NUCLEAR PROTEIN 1; THYN1", "OMIM:613741": "GLYCOGEN PHOSPHORYLASE, LIVER; PYGL", "OMIM:613742": "GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC", "OMIM:613745": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 10; ANAPC10", "OMIM:613746": "BREAST CANCER ANTIESTROGEN RESISTANCE 4; BCAR4", "OMIM:613747": "KINESIN FAMILY MEMBER 24; KIF24", "OMIM:613748": "COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 3; CHCHD3", "OMIM:613749": "ZINC FINGER PROTEIN 260; ZNF260", "OMIM:613753": "MICRO RNA 211; MIR211", "OMIM:613754": "RING FINGER PROTEIN 187; RNF187", "OMIM:613755": "MICRO RNA 326; MIR326", "OMIM:613760": "SOLUTE CARRIER FAMILY 36, MEMBER 4; SLC36A4", "OMIM:613761": "MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5", "OMIM:613764": "SECRETORY CARRIER MEMBRANE PROTEIN 4; SCAMP4", "OMIM:613766": "SECRETORY CARRIER MEMBRANE PROTEIN 5; SCAMP5", "OMIM:613768": "RING FINGER PROTEIN 213; RNF213", "OMIM:613770": "PLACENTA-SPECIFIC GENE 4; PLAC4", "OMIM:613771": "TRANSMEMBRANE PROTEIN 205; TMEM205", "OMIM:613772": "KELCH-LIKE 14; KLHL14", "OMIM:613773": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 9B; IGSF9B", "OMIM:613774": "CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 1; CAMSAP1", "OMIM:613775": "CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 2; CAMSAP2", "OMIM:613777": "FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 2; FOXRED2", "OMIM:613778": "MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8", "OMIM:613781": "COILED-COIL DOMAIN-CONTAINING PROTEIN 125; CCDC125", "OMIM:613782": "METHIONINE SULFOXIDE REDUCTASE B2; MSRB2", "OMIM:613784": "MACULAR DEGENERATION, AGE-RELATED, 12; ARMD12", "OMIM:613785": "COMPLEMENT COMPONENT 1, r SUBCOMPONENT; C1R", "OMIM:613786": "MICRO RNA 148A; MIR148A", "OMIM:613787": "MICRO RNA 148B; MIR148B", "OMIM:613788": "MICRO RNA 152; MIR152", "OMIM:613797": "PROTEASE, SERINE, 33; PRSS33", "OMIM:613798": "COILED-COIL DOMAIN-CONTAINING PROTEIN 39; CCDC39", "OMIM:613799": "COILED-COIL DOMAIN-CONTAINING PROTEIN 40; CCDC40", "OMIM:613802": "MALECTIN; MLEC", "OMIM:613806": "CHOLANGITIS, PRIMARY SCLEROSING; PSC", "OMIM:613813": "MDM1 NUCLEAR PROTEIN; MDM1", "OMIM:613814": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 19; TTC19", "OMIM:613815": "CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2", "OMIM:613816": "UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 7; UBR7", "OMIM:613817": "SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2-LIKE; SPATS2L", "OMIM:613821": "PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, BETA; PPP3R2", "OMIM:613822": "PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 2; PPP4R2", "OMIM:613828": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8; GEFSP8", "OMIM:613831": "UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 3; UBR3", "OMIM:613833": "KAT8 REGULATORY NSL COMPLEX SUBUNIT 1-LIKE PROTEIN; KANSL1L", "OMIM:613836": "ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 5; ADIPQTL5", "OMIM:613840": "ZINC FINGER PROTEIN 304; ZNF304", "OMIM:613841": "UBINUCLEIN 2; UBN2", "OMIM:613842": "GDNF-INDUCIBLE ZINC FINGER PROTEIN 1; GZF1", "OMIM:613844": "UBIQUINOL-CYTOCHROME C REDUCTASE HINGE PROTEIN; UQCRH", "OMIM:613846": "TECTONIC FAMILY, MEMBER 2; TCTN2", "OMIM:613847": "TECTONIC FAMILY, MEMBER 3; TCTN3", "OMIM:613850": "INOSINE TRIPHOSPHATASE DEFICIENCY", "OMIM:613851": "PROLINE-RICH MEMBRANE ANCHOR 1; PRIMA1", "OMIM:613852": "FUCOSYLTRANSFERASE 6 DEFICIENCY", "OMIM:613858": "PROTEASE, SERINE, 56; PRSS56", "OMIM:613859": "UROMODULIN-LIKE 1; UMODL1", "OMIM:613864": "ZINC FINGER PROTEIN 317; ZNF317", "OMIM:613866": "PHOSPHOLIPASE A AND ACYLTRANSFERASE 2; PLAAT2", "OMIM:613867": "PHOSPHOLIPASE A AND ACYLTRANSFERASE 3; PLAAT3", "OMIM:613868": "SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 1; SLC14A1", "OMIM:613871": "FUMARYLACETOACETATE HYDROLASE; FAH", "OMIM:613872": "COAGULATION FACTOR X; F10", "OMIM:613878": "COAGULATION FACTOR VII; F7", "OMIM:613879": "THYROTROPIN-RELEASING HORMONE; TRH", "OMIM:613880": "BROMO-ADJACENT HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; BAHD1", "OMIM:613883": "KELL BLOOD GROUP METALLOENDOPEPTIDASE; KEL", "OMIM:613888": "RAS HOMOLOG GENE FAMILY, MEMBER T1; RHOT1", "OMIM:613889": "RAS HOMOLOG GENE FAMILY, MEMBER T2; RHOT2", "OMIM:613890": "3-BETA-HYDROXYSTEROID DEHYDROGENASE 2; HSD3B2", "OMIM:613891": "URIDINE MONOPHOSPHATE SYNTHETASE; UMPS", "OMIM:613892": "DPY19-LIKE 1; DPY19L1", "OMIM:613893": "DPY19-LIKE 2; DPY19L2", "OMIM:613894": "DPY19-LIKE 3; DPY19L3", "OMIM:613895": "DPY19-LIKE 4; DPY19L4", "OMIM:613896": "BISPHOSPHOGLYCERATE MUTASE; BPGM", "OMIM:613897": "FANCF GENE; FANCF", "OMIM:613898": "3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE; HMGCL", "OMIM:613899": "FANCC GENE; FANCC", "OMIM:613900": "TRANSGLUTAMINASE 6; TGM6", "OMIM:613901": "RNA 2-PRIME,3-PRIME CYCLIC PHOSPHATE AND 5-PRIME-OH LIGASE; RTCB", "OMIM:613902": "ZINC FINGER PROTEIN 503; ZNF503", "OMIM:613903": "ZINC FINGER PROTEIN 540; ZNF540", "OMIM:613904": "ZINC FINGER PROTEIN 569; ZNF569", "OMIM:613905": "ZINC FINGER PROTEIN 606; ZNF606", "OMIM:613906": "ZINC FINGER PROTEIN 641; ZNF641", "OMIM:613907": "ZINC FINGER PROTEIN 652; ZNF652", "OMIM:613910": "ZINC FINGER PROTEIN 480; ZNF480", "OMIM:613911": "ZINC FINGER PROTEIN 496; ZNF496", "OMIM:613914": "ZINC FINGER PROTEIN 746; ZNF746", "OMIM:613915": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 42: ZBTB42", "OMIM:613917": "MUCIN 22; MUC22", "OMIM:613918": "HLA COMPLEX GROUP 22; HCG22", "OMIM:613919": "KINESIN FAMILY MEMBER 6; KIF6", "OMIM:613920": "CYTOCHROME C OXIDASE ASSEMBLY FACTOR 5; COA5", "OMIM:613921": "LIPASE FAMILY, MEMBER J; LIPJ", "OMIM:613922": "LIPASE FAMILY, MEMBER K; LIPK", "OMIM:613923": "LIPASE FAMILY, MEMBER M; LIPM", "OMIM:613924": "LIPASE FAMILY, MEMBER N; LIPN", "OMIM:613927": "COMPLEMENT COMPONENT 2; C2", "OMIM:613928": "MUCIN-LIKE 3; MUCL3", "OMIM:613929": "SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 4; SPINK4", "OMIM:613931": "TARGET OF EGR1; TOE1", "OMIM:613932": "TNNI3-INTERACTING KINASE; TNNI3K", "OMIM:613934": "TRANSMEMBRANE PROTEIN 25; TMEM25", "OMIM:613935": "TRANSMEMBRANE PROTEIN 74; TMEM74", "OMIM:613936": "TRANSMEMBRANE PROTEIN 102; TMEM102", "OMIM:613937": "TRANSMEMBRANE PROTEIN 184C; TMEM184C", "OMIM:613939": "SPERMATOGENESIS-ASSOCIATED PROTEIN 20; SPATA20", "OMIM:613940": "AFG2 AAA ATPase HOMOLOG A; AFG2A", "OMIM:613941": "SERINE PEPTIDASE INHIBITOR, KUNITZ-TYPE, 3; SPINT3", "OMIM:613942": "SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 5; SUN5", "OMIM:613945": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5, BETA; DNAJC5B", "OMIM:613946": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5, GAMMA; DNAJC5G", "OMIM:613947": "SPERMATOGENESIS-ASSOCIATED PROTEIN 6; SPATA6", "OMIM:613948": "SPERMATOGENESIS-ASSOCIATED PROTEIN 8; SPATA8", "OMIM:613952": "TERMINAL NUCLEOTIDYLTRANSFERASE 5C; TENT5C", "OMIM:613959": "SCHIZOPHRENIA 16; SCZD16", "OMIM:613961": "TASTE RECEPTOR, TYPE 2, MEMBER 19; TAS2R19", "OMIM:613962": "TASTE RECEPTOR, TYPE 2, MEMBER 20; TAS2R20", "OMIM:613963": "TASTE RECEPTOR, TYPE 2, MEMBER 30; TAS2R30", "OMIM:613964": "TASTE RECEPTOR, TYPE 2, MEMBER 40; TAS2R40", "OMIM:613965": "TASTE RECEPTOR, TYPE 2, MEMBER 41; TAS2R41", "OMIM:613966": "TASTE RECEPTOR, TYPE 2, MEMBER 42; TAS2R42", "OMIM:613967": "TASTE RECEPTOR, TYPE 2, MEMBER 45; TAS2R45", "OMIM:613968": "TASTE RECEPTOR, TYPE 2, MEMBER 60; TAS2R60", "OMIM:613972": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6", "OMIM:613973": "CYCLIC GMP-AMP SYNTHASE; CGAS", "OMIM:613974": "DExD/H-BOX HELICASE 60; DDX60", "OMIM:613975": "INTERFERON-INDUCED PROTEIN 44-LIKE; IFI44L", "OMIM:613976": "FANCE GENE; FANCE", "OMIM:613979": "PRE-mRNA-PROCESSING FACTOR 6; PRPF6", "OMIM:613984": "FANCD2 GENE; FANCD2", "OMIM:613991": "CDC42-BINDING PROTEIN KINASE, GAMMA; CDC42BPG", "OMIM:613992": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, DELTA; PPP2R2D", "OMIM:613993": "MYOSIN, LIGHT CHAIN 7, REGULATORY; MYL7", "OMIM:613994": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 4; NBPF4", "OMIM:613995": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 5; NBPF5", "OMIM:613996": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 6; NBPF6", "OMIM:613997": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 7; NBPF7", "OMIM:613998": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 8; NBPF8", "OMIM:613999": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 9; NBPF9", "OMIM:614000": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 10; NBPF10", "OMIM:614001": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 11; NBPF11", "OMIM:614003": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 14; NBPF14", "OMIM:614006": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 19; NBPF19", "OMIM:614007": "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 20; NBPF20", "OMIM:614010": "INOSITOL MONOPHOSPHATASE DOMAIN-CONTAINING PROTEIN 1; IMPAD1", "OMIM:614011": "ENDOGENOUS RETROVIRUS GROUP K, MEMBER 4; ERVK-4", "OMIM:614012": "ENDOGENOUS RETROVIRUS GROUP K, MEMBER 5; ERVK-5", "OMIM:614013": "ENDOGENOUS RETROVIRUS GROUP K, MEMBER 7; ERVK-7", "OMIM:614014": "RIBONUCLEASE A FAMILY, MEMBER 9, INACTIVE; RNASE9", "OMIM:614015": "DIACYLGLYCEROL LIPASE, ALPHA; DAGLA", "OMIM:614016": "DIACYLGLYCEROL LIPASE, BETA; DAGLB", "OMIM:614024": "PROTEIN Z DEFICIENCY", "OMIM:614026": "KINESIN FAMILY MEMBER 26B; KIF26B", "OMIM:614027": "INSULINOMA-ASSOCIATED 2; INSM2", "OMIM:614029": "SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER A; SPDYA", "OMIM:614030": "SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER C; SPDYC", "OMIM:614031": "RAN-BINDING PROTEIN 10; RANBP10", "OMIM:614032": "TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 4; TOX4", "OMIM:614036": "ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD", "OMIM:614040": "ZINC FINGER PROTEIN 467; ZNF467", "OMIM:614041": "RB TRANSCRIPTIONAL COREPRESSOR 1; RB1", "OMIM:614043": "LEUCINE-RICH REPEAT IN FLII-INTERACTING PROTEIN 2; LRRFIP2", "OMIM:614044": "TRYPSINOGEN DEFICIENCY", "OMIM:614045": "NIBAN APOPTOSIS REGULATOR 2; NIBAN2", "OMIM:614046": "ARGININE- AND GLUTAMATE-RICH PROTEIN 1; ARGLU1", "OMIM:614047": "METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2-LIKE, NADP(+)-DEPENDENT; MTHFD2L", "OMIM:614048": "ENDOSOME-LYSOSOME-ASSOCIATED APOPTOSIS AND AUTOPHAGY REGULATOR 2; ELAPOR2", "OMIM:614054": "RIBOSOMAL MODIFICATION PROTEIN RimK-LIKE FAMILY, MEMBER B; RIMKLB", "OMIM:614056": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 26; PPP1R26", "OMIM:614057": "MICRO RNA 409; MIR409", "OMIM:614058": "KETOHEXOKINASE; KHK", "OMIM:614059": "MICRO RNA 338; MIR338", "OMIM:614060": "HOXA DISTAL TRANSCRIPT ANTISENSE RNA; HOTTIP", "OMIM:614061": "OLFACTOMEDIN 4; OLFM4", "OMIM:614062": "CDC42-BINDING PROTEIN KINASE, BETA; CDC42BPB", "OMIM:614064": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 24; ZBTB24", "OMIM:614068": "INTRAFLAGELLAR TRANSPORT 43; IFT43", "OMIM:614070": "PSORIASIS 13, SUSCEPTIBILITY TO; PSORS13", "OMIM:614071": "MYOCARDIAL ZONULA ADHERENS PROTEIN; MYZAP", "OMIM:614079": "ASPERGILLOSIS, SUSCEPTIBILITY TO", "OMIM:614081": "ANHAPTOGLOBINEMIA; AHP", "OMIM:614084": "WEE1 HOMOLOG 2; WEE2", "OMIM:614085": "RAD9-, RAD1-, AND HUS1-INTERACTING NUCLEAR ORPHAN 1; RHNO1", "OMIM:614086": "MULTICILIATE DIFFERENTIATION AND DNA SYNTHESIS-ASSOCIATED CELL CYCLE PROTEIN; MCIDAS", "OMIM:614088": "INTRACELLULAR ADHESION MOLECULE 4; ICAM4", "OMIM:614090": "SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3", "OMIM:614092": "RAB-INTERACTING LYSOSOMAL PROTEIN-LIKE 1; RILPL1", "OMIM:614093": "RAB-INTERACTING LYSOSOMAL PROTEIN-LIKE 2; RILPL2", "OMIM:614094": "MARVEL DOMAIN-CONTAINING PROTEIN 3; MARVELD3", "OMIM:614095": "PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2", "OMIM:614106": "MUSCULAR LMNA-INTERACTING PROTEIN; MLIP", "OMIM:614107": "KARYOPHERIN ALPHA-7; KPNA7", "OMIM:614108": "BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 2; BPIFB2", "OMIM:614109": "BPI FOLD-CONTAINING PROTEIN, FAMILY C; BPIFC", "OMIM:614110": "BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 6; BPIFB6", "OMIM:614112": "MICRO RNA 320A; MIR320A", "OMIM:614117": "EXOCYST COMPLEX COMPONENT 3-LIKE 1; EXOC3L1", "OMIM:614118": "TEASHIRT ZINC FINGER HOMEOBOX 2; TSHZ2", "OMIM:614119": "TEASHIRT ZINC FINGER HOMEOBOX 3; TSHZ3", "OMIM:614121": "TERMINAL NUCLEOTIDYLTRANSFERASE 2; TENT2", "OMIM:614122": "CHITOTRIOSIDASE DEFICIENCY; CHITD", "OMIM:614123": "TRANSMEMBRANE AND COILED-COIL DOMAINS PROTEIN 1; TMCO1", "OMIM:614124": "GLYCEROPHOSPHOCHOLINE PHOSPHODIESTERASE 1; GPCPD1", "OMIM:614125": "DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 4; DPPA4", "OMIM:614126": "MITOCHONDRIAL AMIDOXIME-REDUCING COMPONENT 1; MTARC1", "OMIM:614127": "MITOCHONDRIAL AMIDOXIME-REDUCING COMPONENT 2; MTARC2", "OMIM:614130": "ADENOSINE DEAMINASE DOMAIN-CONTAINING PROTEIN 1, TESTIS-SPECIFIC; ADAD1", "OMIM:614133": "HEPACAM FAMILY MEMBER 2; HEPACAM2", "OMIM:614136": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 8; TRAPPC8", "OMIM:614137": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 3-LIKE; TRAPPC3L", "OMIM:614138": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 11; TRAPPC11", "OMIM:614139": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 12; TRAPPC12", "OMIM:614140": "SPERM ANTIGEN WITH CALPONIN HOMOLOGY AND COILED-COIL DOMAINS 1-LIKE; SPECC1L", "OMIM:614141": "TRIPARTITE MOTIF-CONTAINING PROTEIN 2; TRIM2", "OMIM:614142": "CUE DOMAIN-CONTAINING PROTEIN 2; CUEDC2", "OMIM:614143": "IGF-LIKE FAMILY RECEPTOR 1; IGFLR1", "OMIM:614144": "B9 DOMAIN-CONTAINING PROTEIN 1; B9D1", "OMIM:614145": "COILED-COIL DOMAIN-CONTAINING PROTEIN 8; CCDC8", "OMIM:614146": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 9; DNAAF9", "OMIM:614147": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 8; C1QTNF8", "OMIM:614148": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 9B; C1QTNF9B", "OMIM:614150": "PROTEIN KINASE DOMAIN-CONTAINING PROTEIN, CYTOPLASMIC; PKDCC", "OMIM:614151": "RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 3; RFWD3", "OMIM:614154": "NOP56 RIBONUCLEAR PROTEIN; NOP56", "OMIM:614155": "MICRO RNA 1292; MIR1292", "OMIM:614159": "ZINC FINGER PROTEIN 644; ZNF644", "OMIM:614161": "PR DOMAIN-CONTAINING PROTEIN 5; PRDM5", "OMIM:614166": "MYOPIA 20, AUTOSOMAL DOMINANT; MYP20", "OMIM:614168": "PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1", "OMIM:614169": "NEUROBEACHIN-LIKE 2; NBEAL2", "OMIM:614174": "MEIOSIS/SPERMIOGENESIS-ASSOCIATED PROTEIN 1; MEIG1", "OMIM:614176": "ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 28; ZFYVE28", "OMIM:614177": "EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 4A; EFCAB4A", "OMIM:614178": "CALCIUM RELEASE-ACTIVATED CALCIUM CHANNEL REGULATOR 2A; CRACR2A", "OMIM:614179": "IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT 2; ISLR2", "OMIM:614182": "HEART DEVELOPMENT PROTEIN WITH EGF-LIKE DOMAINS 1; HEG1", "OMIM:614183": "DIS3-LIKE EXOSOME 3-PRIME-5-PRIME EXORIBONUCLEASE; DIS3L", "OMIM:614184": "DIS3-LIKE 3-PRIME-5-PRIME EXORIBONUCLEASE 2; DIS3L2", "OMIM:614189": "GOLGIN A7 FAMILY, MEMBER B; GOLGA7B", "OMIM:614191": "DEP DOMAIN-CONTAINING PROTEIN 5; DEPDC5", "OMIM:614193": "TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2", "OMIM:614194": "DEDICATOR OF CYTOKINESIS 6; DOCK6", "OMIM:614197": "MITOCHONDRIAL CALCIUM UNIPORTER; MCU", "OMIM:614206": "CHROMATIN TARGET OF PRMT1; CHTOP", "OMIM:614210": "LUNG CANCER SUSCEPTIBILITY 5; LNCR5", "OMIM:614214": "KELCH-LIKE 6; KLHL6", "OMIM:614215": "ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 1; ASCC1", "OMIM:614216": "ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 2; ASCC2", "OMIM:614217": "ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 3; ASCC3", "OMIM:614218": "WD REPEAT-CONTAINING PROTEIN 81; WDR81", "OMIM:614220": "BILIARY CIRRHOSIS, PRIMARY, 4; PBC4", "OMIM:614221": "BILIARY CIRRHOSIS, PRIMARY, 5; PBC5", "OMIM:614223": "NARCOLEPSY 6, SUSCEPTIBILITY TO; NRCLP6", "OMIM:614232": "11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II; HSD11B2", "OMIM:614234": "PRIMARY CILIA FORMATION; PIFO", "OMIM:614235": "PDZ DOMAIN-CONTAINING PROTEIN 8; PDZD8", "OMIM:614236": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 7; SLC38A7", "OMIM:614239": "PH DOMAIN-CONTAINING ENDOCYTIC TRAFFICKING ADAPTOR 1; PHETA1", "OMIM:614240": "PH DOMAIN-CONTAINING ENDOCYTIC TRAFFICKING ADAPTOR 2; PHETA2", "OMIM:614241": "LYSOCARDIOLIPIN ACYLTRANSFERASE 1; LCLAT1", "OMIM:614242": "SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 9; SLC16A9", "OMIM:614243": "5-OXOPROLINASE (ATP-HYDROLYZING); OPLAH", "OMIM:614244": "PYRIDOXAL-DEPENDENT DECARBOXYLASE DOMAIN-CONTAINING PROTEIN 1; PDXDC1", "OMIM:614245": "ACYL-CoA SYNTHETASE FAMILY, MEMBER 3; ACSF3", "OMIM:614246": "N-ALPHA-ACETYLTRANSFERASE 60, NatF CATALYTIC SUBUNIT; NAA60", "OMIM:614247": "MICRO RNA 519D; MIR519D", "OMIM:614248": "PEAK FAMILY MEMBER 1; PEAK1", "OMIM:614252": "ANEURYSM, INTRACRANIAL BERRY, 11; ANIB11", "OMIM:614258": "POLYMERASE III, RNA, SUBUNIT A; POLR3A", "OMIM:614259": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 57; CFAP57", "OMIM:614260": "CHROMOSOME 9 OPEN READING FRAME 72; C9ORF72", "OMIM:614263": "BACE1 ANTISENSE RNA: BACE1AS", "OMIM:614264": "RHO GTPase-ACTIVATING PROTEIN 30; ARHGAP30", "OMIM:614267": "ACYL-CoA THIOESTERASE 6; ACOT6", "OMIM:614268": "ADHESION G PROTEIN-COUPLED RECEPTOR F4; ADGRF4", "OMIM:614269": "G PROTEIN-COUPLED RECEPTOR 153; GPR153", "OMIM:614270": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 65; CFAP65", "OMIM:614271": "COILED-COIL DOMAIN-CONTAINING PROTEIN 137; CCDC137", "OMIM:614272": "FAST KINASE DOMAINS 5; FASTKD5", "OMIM:614273": "OLFACTORY RECEPTOR, FAMILY 4, SUBFAMILY C, MEMBER 46; OR4C46", "OMIM:614274": "STRAWBERRY NOTCH, DROSOPHILA, HOMOLOG OF, 1; SBNO1", "OMIM:614275": "ZINC FINGER PROTEIN 565; ZNF565", "OMIM:614276": "PHOSPHOLIPASE C-LIKE 2; PLCL2", "OMIM:614277": "UBIQUITIN-CONJUGATING ENZYME E2 W; UBE2W", "OMIM:614281": "ENDOTHELIAL CELL ADHESION MOLECULE; ESAM", "OMIM:614282": "STROMAL CELL-DERIVED FACTOR 4; SDF4", "OMIM:614283": "GLUCOCORTICOID-INDUCED TRANSCRIPT 1; GLCCI1", "OMIM:614285": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 9; C1QTNF9", "OMIM:614287": "OFC1 CANDIDATE GENE 1; OFCC1", "OMIM:614288": "ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 11; ACAD11", "OMIM:614289": "SUPPRESSOR OF LIN12-LIKE 2; SEL1L2", "OMIM:614290": "TETRASOMY 18p", "OMIM:614291": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4; BROVCA4", "OMIM:614295": "BICC FAMILY RNA-BINDING PROTEIN 1; BICC1", "OMIM:614297": "CHROMOSOME 19 OPEN READING FRAME 12; C19ORF12", "OMIM:614301": "ATAXIN 1-LIKE; ATXN1L", "OMIM:614304": "MICRO RNA 137; MIR137", "OMIM:614308": "FORMIMINOTRANSFERASE CYCLODEAMINASE N-TERMINAL-LIKE PROTEIN 1; FTCDNL1", "OMIM:614309": "tRNA METHYLTRANSFERASE 44 HOMOLOG; TRMT44", "OMIM:614310": "CENTROSOMAL PROTEIN, 70-KD; CEP70", "OMIM:614311": "SYNAPSE DIFFERENTIATION-INDUCED GENE 1; SYNDIG1", "OMIM:614312": "ZINC FINGER MYND-CONTAINING PROTEIN 15; ZMYND15", "OMIM:614313": "ACYL-CoA THIOESTERASE 1; ACOT1", "OMIM:614314": "ACYL-CoA THIOESTERASE 4; ACOT4", "OMIM:614315": "ACYL-CoA THIOESTERASE 12; ACOT12", "OMIM:614316": "VESICLE TRANSPORT THROUGH INTERACTION WITH T-SNARES 1A; VTI1A", "OMIM:614317": "VESICOURETERAL REFLUX 4; VUR4", "OMIM:614318": "VESICOURETERAL REFLUX 5; VUR5", "OMIM:614319": "VESICOURETERAL REFLUX 6; VUR6", "OMIM:614320": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 4; PNCA4", "OMIM:614330": "COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 2; C1QL2", "OMIM:614332": "CHROMOSOME 2p16.3 DELETION SYNDROME", "OMIM:614334": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 13; DNAJC13", "OMIM:614336": "PRESEQUENCE TRANSLOCASE-ASSOCIATED MOTOR 16; PAM16", "OMIM:614348": "ANDROGEN-DEPENDENT TFPI-REGULATING PROTEIN; ADTRP", "OMIM:614349": "ZINC FINGER PROTEIN 638; ZNF638", "OMIM:614351": "NUCLEOPORIN, 93-KD; NUP93", "OMIM:614352": "NUCLEOPORIN, 205-KD; NUP205", "OMIM:614353": "HAS2 ANTISENSE RNA 1; HAS2AS1", "OMIM:614354": "PRO2268 GENE", "OMIM:614355": "ACYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 1; ACSS1", "OMIM:614356": "ACYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 3; ACSS3", "OMIM:614357": "ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 1; ACSM1", "OMIM:614358": "ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 2A; ACSM2A", "OMIM:614359": "ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 2B; ACSM2B", "OMIM:614360": "ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 4; ACSM4", "OMIM:614361": "ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 5; ACSM5", "OMIM:614362": "ACYL-CoA SYNTHETASE, BUBBLEGUM FAMILY, MEMBER 1; ACSBG1", "OMIM:614363": "ACYL-CoA SYNTHETASE, BUBBLEGUM FAMILY, MEMBER 2; ACSBG2", "OMIM:614364": "ACETOACETYL-CoA SYNTHETASE; AACS", "OMIM:614365": "AMINOADIPATE-SEMIALDEHYDE DEHYDROGENASE; AASDH", "OMIM:614366": "POLYMERASE III, RNA, SUBUNIT B; POLR3B", "OMIM:614367": "ADAPTOR-RELATED PROTEIN COMPLEX 5, BETA-1 SUBUNIT; AP5B1", "OMIM:614368": "ADAPTOR-RELATED PROTEIN COMPLEX 5, MU-1 SUBUNIT; AP5M1", "OMIM:614371": "DENGUE VIRUS, SUSCEPTIBILITY TO", "OMIM:614374": "BLOOD GROUP, CHIDO/RODGERS SYSTEM", "OMIM:614375": "AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 4; AAA4", "OMIM:614382": "BACTEREMIA, SUSCEPTIBILITY TO, 1; BACTS1", "OMIM:614383": "BACTEREMIA, SUSCEPTIBILITY TO, 2; BACTS2", "OMIM:614384": "MICRO RNA 492; MIR492", "OMIM:614386": "PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2", "OMIM:614387": "ZINC FINGER PROTEIN 526; ZNF526", "OMIM:614392": "TUDOR DOMAIN-CONTAINING PROTEIN 3; TDRD3", "OMIM:614393": "O-ACYL-ADP-RIBOSE DEACYLASE 1; OARD1", "OMIM:614394": "INTRAFLAGELLAR TRANSPORT 20; IFT20", "OMIM:614395": "GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS", "OMIM:614396": "G-PATCH DOMAIN-CONTAINING PROTEIN 8; GPATCH8", "OMIM:614397": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 2A; MFSD2A", "OMIM:614398": "JUNCTIONAL CADHERIN 5-ASSOCIATED PROTEIN; JCAD", "OMIM:614400": "GLUCOCORTICOID THERAPY, RESPONSE TO; GCTR", "OMIM:614401": "ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS", "OMIM:614403": "RHOMBOID 5 HOMOLOG 1; RHBDF1", "OMIM:614404": "RHOMBOID 5 HOMOLOG 2; RHBDF2", "OMIM:614405": "DEAH-BOX HELICASE 33; DHX33", "OMIM:614406": "SLP ADAPTOR- AND CSK-INTERACTING MEMBRANE PROTEIN; SCIMP", "OMIM:614410": "ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE 1; AFAP1L1", "OMIM:614411": "GLYCEROL QUANTITATIVE TRAIT LOCUS; GLYCQTL", "OMIM:614412": "TESTIS- AND OVARY-SPECIFIC PAZ DOMAIN-CONTAINING PROTEIN 1; TOPAZ1", "OMIM:614413": "AMINOACYLASE 3; ACY3", "OMIM:614419": "ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "OMIM:614423": "TRANSMEMBRANE PROTEIN 237; TMEM237", "OMIM:614425": "TELO2-INTERACTING PROTEIN 1; TTI1", "OMIM:614426": "TELO2-INTERACTING PROTEIN 2; TTI2", "OMIM:614427": "TEASHIRT ZINC FINGER HOMEOBOX 1; TSHZ1", "OMIM:614428": "TRANSCRIPTION FACTOR AP2-EPSILON; TFAP2E", "OMIM:614439": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 14; ARL14", "OMIM:614440": "PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN 3; PSD3", "OMIM:614442": "PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN 4; PSD4", "OMIM:614443": "EBNA1-BINDING PROTEIN 2; EBNA1BP2", "OMIM:614444": "RAL GUANINE NUCLEOTIDE EXCHANGE FACTOR WITH PH DOMAIN AND SH3 DOMAIN-BINDING MOTIF 1; RALGPS1", "OMIM:614445": "DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 2; DPPA2", "OMIM:614446": "ATPase, CLASS II, TYPE 9B; ATP9B", "OMIM:614447": "G0/G1 SWITCH GENE 2; G0S2", "OMIM:614448": "GEMININ COILED-COIL DOMAIN-CONTAINING PROTEIN; GMNC", "OMIM:614449": "PROTOCADHERIN 20; PCDH20", "OMIM:614451": "ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 7; ELOVL7", "OMIM:614452": "ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 1; ATAD1", "OMIM:614453": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 7; LRRC7", "OMIM:614454": "UBIQUITIN PROTEIN LIGASE E3C; UBE3C", "OMIM:614459": "TRANSMEMBRANE PROTEIN 138; TMEM138", "OMIM:614460": "UBIQUITIN-SPECIFIC PROTEASE 47; USP47", "OMIM:614461": "UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 2; UQCC2", "OMIM:614463": "NMYC DOWNSTREAM-REGULATED GENE 4; NDRG4", "OMIM:614466": "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6; CHDS6", "OMIM:614469": "SERRATE RNA EFFECTOR MOLECULE; SRRT", "OMIM:614471": "UBIQUITIN-SPECIFIC PROTEASE 19; USP19", "OMIM:614472": "RING FINGER PROTEIN 123; RNF123", "OMIM:614476": "THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 4; THSD4", "OMIM:614477": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 418; CFAP418", "OMIM:614478": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX14; COX14", "OMIM:614479": "MALONYL CoA:ACP ACYLTRANSFERASE, MITOCHONDRIAL; MCAT", "OMIM:614481": "ATXN7 ANTISENSE RNA 1; ATXN7AS1", "OMIM:614484": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 13; ANAPC13", "OMIM:614488": "MICRO RNA 1258; MIR1258", "OMIM:614489": "MICRO RNA 616; MIR616", "OMIM:614490": "BLOOD GROUP, JUNIOR SYSTEM; JR", "OMIM:614502": "PIERCER OF MICROTUBULE WALL 1; PIERCE1", "OMIM:614503": "KELCH DOMAIN-CONTAINING PROTEIN 8A; KLHDC8A", "OMIM:614505": "FK506-BINDING PROTEIN 14; FKBP14", "OMIM:614506": "BRCA1-ASSOCIATED ATM ACTIVATOR 1; BRAT1", "OMIM:614509": "MICRO RNA 99A; MIR99A", "OMIM:614510": "MICRO RNA 99B; MIR99B", "OMIM:614511": "MYOD FAMILY INHIBITOR DOMAIN-CONTAINING PROTEIN; MDFIC", "OMIM:614512": "TORSIN 1A-INTERACTING PROTEIN 1; TOR1AIP1", "OMIM:614513": "TORSIN 1A-INTERACTING PROTEIN 2; TOR1AIP2", "OMIM:614515": "G PROTEIN-COUPLED RECEPTOR 179; GPR179", "OMIM:614516": "DOLICHYL PYROPHOSPHATE PHOSPHATASE 1; DOLPP1", "OMIM:614517": "BRAIN AND MUSCLE ARNT-LIKE PROTEIN 2; BMAL2", "OMIM:614518": "GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 1; GATAD1", "OMIM:614519": "HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH", "OMIM:614522": "KELCH-LIKE 12; KLHL12", "OMIM:614523": "MICRO RNA 489; MIR489", "OMIM:614525": "NFATC2-INTERACTING PROTEIN; NFATC2IP", "OMIM:614528": "HIF1A ANTISENSE RNA 1; HIF1AAS1", "OMIM:614529": "HIF1A ANTISENSE RNA 2; HIF1AAS2", "OMIM:614530": "NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A12; NDUFA12", "OMIM:614531": "RASGEF DOMAIN FAMILY, MEMBER 1A; RASGEF1A", "OMIM:614532": "RASGEF DOMAIN FAMILY, MEMBER 1B; RASGEF1B", "OMIM:614533": "CELL DIVISION CYCLE 26; CDC26", "OMIM:614534": "ANAPHASE-PROMOTING COMPLEX SUBUNIT 11; ANAPC11", "OMIM:614535": "ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 7; ZSWIM7", "OMIM:614536": "SWIM-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 7-ASSOCIATED PROTEIN 1; SWSAP1", "OMIM:614537": "LEUCINE-RICH MELANOCYTE DIFFERENTIATION-ASSOCIATED PROTEIN; LRMDA", "OMIM:614538": "MICRO RNA 570; MIR570", "OMIM:614539": "HELICASE, DNA, B; HELB", "OMIM:614542": "DIVERGENT PROTEIN KINASE DOMAIN 1A; DIPK1A", "OMIM:614543": "DIVERGENT PROTEIN KINASE DOMAIN 1B; DIPK1B", "OMIM:614544": "DIVERGENT PROTEIN KINASE DOMAIN 1C; DIPK1C", "OMIM:614545": "ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 10; EMC10", "OMIM:614546": "EFAVIRENZ, POOR METABOLISM OF", "OMIM:614547": "FAMILY WITH SEQUENCE SIMILARITY 103, MEMBER A1; FAM103A1", "OMIM:614548": "SERINE INCORPORATOR 1; SERINC1", "OMIM:614549": "SERINE INCORPORATOR 2; SERINC2", "OMIM:614550": "SERINE INCORPORATOR 4; SERINC4", "OMIM:614551": "SERINE INCORPORATOR 5; SERINC5", "OMIM:614552": "XYLOSIDE XYLOSYLTRANSFERASE 1; XXYLT1", "OMIM:614553": "N6 ADENINE-SPECIFIC DNA METHYLTRANSFERASE 1; N6AMT1", "OMIM:614554": "FAMILY WITH SEQUENCE SIMILARITY 32, MEMBER A; FAM32A", "OMIM:614555": "FERM DOMAIN-CONTAINING PROTEIN 6; FRMD6", "OMIM:614556": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1B; ARID1B", "OMIM:614560": "MAU2 SISTER CHROMATID COHESION FACTOR; MAU2", "OMIM:614566": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 3; DNAAF3", "OMIM:614567": "DIAPHANOUS-RELATED FORMIN 3; DIAPH3", "OMIM:614568": "UNC13 HOMOLOG C; UNC13C", "OMIM:614570": "KINESIN FAMILY MEMBER 18B; KIF18B", "OMIM:614571": "CILIOGENESIS AND PLANAR POLARITY EFFECTOR COMPLEX, SUBUNIT 1; CPLANE1", "OMIM:614572": "ZINC FINGER PROTEIN 42; ZFP42", "OMIM:614573": "G PROTEIN-COUPLED RECEPTOR 158; GPR158", "OMIM:614574": "ROGDI ATYPICAL LEUCINE ZIPPER; ROGDI", "OMIM:614577": "PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 3; PAQR3", "OMIM:614578": "PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 4; PAQR4", "OMIM:614579": "PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 6; PAQR6", "OMIM:614580": "PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 9; PAQR9", "OMIM:614581": "MONOCYTE-TO-MACROPHAGE DIFFERENTIATION-ASSOCIATED PROTEIN 2; MMD2", "OMIM:614584": "PROLYL 4-HYDROXYLASE, TRANSMEMBRANE; P4HTM", "OMIM:614585": "FERREDOXIN 2; FDX2", "OMIM:614586": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 5; ZDHHC5", "OMIM:614587": "CHAC GLUTATHIONE-SPECIFIC GAMMA-GLUTAMYLCYCLOTRANSFERASE 1; CHAC1", "OMIM:614589": "SKI3 SUBUNIT OF SUPERKILLER COMPLEX; SKIC3", "OMIM:614590": "PODOCONIOSIS, SUSCEPTIBILITY TO; PDCOS", "OMIM:614591": "CEA CELL ADHESION MOLECULE 16; CEACAM16", "OMIM:614593": "MEIOSIS REGULATOR AND mRNA STABILITY FACTOR 1; MARF1", "OMIM:614596": "MICRO RNA 302A; MIR302A", "OMIM:614597": "MICRO RNA 302B; MIR302B", "OMIM:614598": "MICRO RNA 302C; MIR302C", "OMIM:614599": "MICRO RNA 302D; MIR302D", "OMIM:614600": "MICRO RNA 367; MIR367", "OMIM:614601": "ZINC FINGER PROTEIN 326; ZNF326", "OMIM:614603": "DDHD DOMAIN-CONTAINING PROTEIN 1; DDHD1", "OMIM:614604": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 7; ZDHHC7", "OMIM:614605": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 21; ZDHHC21", "OMIM:614606": "FOCADHESIN; FOCAD", "OMIM:614610": "KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; KANK2", "OMIM:614611": "KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 3; KANK3", "OMIM:614612": "KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 4; KANK4", "OMIM:614620": "INTRAFLAGELLAR TRANSPORT 140; IFT140", "OMIM:614624": "MITOCHONDRIAL ASSEMBLY OF RIBOSOMAL LARGE SUBUNIT 1; MALSU1", "OMIM:614625": "DIFFERENTIATION-ANTAGONIZING NONCODING RNA; DANCR", "OMIM:614626": "SMALL NUCLEOLAR RNA, H/ACA BOX, 26; SNORA26", "OMIM:614627": "MICRO RNA 4449; MIR4449", "OMIM:614630": "ANDROGLOBIN; ADGB", "OMIM:614631": "CDP-L-RIBITOL PYROPHOSPHORYLASE A; CRPPA", "OMIM:614632": "UV-STIMULATED SCAFFOLD PROTEIN A; UVSSA", "OMIM:614633": "VPS54 SUBUNIT OF GARP COMPLEX; VPS54", "OMIM:614634": "CENTROSOMAL PROTEIN 126; CEP126", "OMIM:614635": "LONG INTERGENIC NONCODING RNA 538; LINC00538", "OMIM:614636": "MYOSIN IH; MYO1H", "OMIM:614637": "DESUMOYLATING ISOPEPTIDASE 1; DESI1", "OMIM:614638": "DESUMOYLATING ISOPEPTIDASE 2; DESI2", "OMIM:614639": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 46; ZBTB46", "OMIM:614641": "LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 5; LAMP5", "OMIM:614642": "START DOMAIN-CONTAINING PROTEIN 9; STARD9", "OMIM:614644": "MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 4; MPVCQTL4", "OMIM:614645": "MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 5; MPVCQTL5", "OMIM:614646": "MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 6; MPVCQTL6", "OMIM:614647": "COENZYME Q6, MONOOXYGENASE; COQ6", "OMIM:614648": "RALY-LIKE PROTEIN; RALYL", "OMIM:614649": "RING FINGER PROTEIN 170; RNF170", "OMIM:614655": "STUTTERING, FAMILIAL PERSISTENT, 3; STUT3", "OMIM:614656": "PALADIN1; PALD1", "OMIM:614657": "ANGIOMOTIN-LIKE 1; AMOTL1", "OMIM:614658": "ANGIOMOTIN-LIKE 2; AMOTL2", "OMIM:614659": "APC MEMBRANE RECRUITMENT PROTEIN 2; AMER2", "OMIM:614660": "PAT1 HOMOLOG 1, PROCESSING BODY mRNA DECAY FACTOR; PATL1", "OMIM:614661": "PAT1 HOMOLOG 2; PATL2", "OMIM:614663": "RALY HETEROGENEOUS NUCLEAR RIBONUCLEAR PROTEIN; RALY", "OMIM:614664": "TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 4; TREML4", "OMIM:614666": "COILED-COIL DOMAIN-CONTAINING PROTEIN 78; CCDC78", "OMIM:614667": "MITOCHONDRIAL tRNA TRANSLATION OPTIMIZATION 1; MTO1", "OMIM:614668": "STUTTERING, FAMILIAL PERSISTENT, 4; STUT4", "OMIM:614670": "PERIPARTUM CARDIOMYOPATHY, SUSCEPTIBILITY TO; PPCM", "OMIM:614671": "CHROMOSOME 16p11.2 DUPLICATION SYNDROME", "OMIM:614677": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 19; DNAAF19", "OMIM:614680": "INFLUENZA, SEVERE, SUSCEPTIBILITY TO", "OMIM:614681": "AMINOGLYCOSIDE PHOSPHOTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; AGPHD1", "OMIM:614682": "ALANINE-GLYOXYLATE AMINOTRANSFERASE 2-LIKE 1; AGXT2L1", "OMIM:614683": "5-PHOSPHOHYDROXY-L-LYSINE PHOSPHO-LYASE; PHYKPL", "OMIM:614685": "ZINC FINGER PROTEIN 597; ZNF597", "OMIM:614686": "FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER B; FAM50B", "OMIM:614689": "SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS", "OMIM:614690": "NELL2-INTERACTING CELL ONTOGENY REGULATOR 1; NICOL1", "OMIM:614692": "MEMBRANOUS NEPHROPATHY, SUSCEPTIBILITY TO; MBNP", "OMIM:614693": "ATM INTERACTOR; ATMIN", "OMIM:614694": "REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING PROTEIN 1B; RPRD1B", "OMIM:614695": "REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING 2; RPRD2", "OMIM:614697": "KATANIN, p60 SUBUNIT, A-LIKE PROTEIN 2; KATNAL2", "OMIM:614698": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX20; COX20", "OMIM:614703": "SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2B; SRGAP2B", "OMIM:614704": "SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2C; SRGAP2C", "OMIM:614705": "SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2D; SRGAP2D", "OMIM:614708": "SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 3; SCUBE3", "OMIM:614709": "LYR MOTIF-CONTAINING PROTEIN 1; LYRM1", "OMIM:614710": "FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER A; FAM72A", "OMIM:614711": "FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER B; FAM72B", "OMIM:614712": "FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER D; FAM72D", "OMIM:614713": "RAS ASSOCIATION DOMAIN FAMILY, MEMBER 10; RASSF10", "OMIM:614715": "TRANSMEMBRANE AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 2; TMIGD2", "OMIM:614716": "CAPPING PROTEIN REGULATOR AND MYOSIN 1 LINKER 3; CARMIL3", "OMIM:614717": "ANAPHASE-PROMOTING COMPLEX, SUBUNIT 15; ANAPC15", "OMIM:614718": "KINETOCHORE-LOCALIZED ASTRIN/SPAG5-BINDING PROTEIN; KNSTRN", "OMIM:614719": "POTASSIUM CHANNEL MODULATORY FACTOR 1; KCMF1", "OMIM:614720": "CYCLIN-DEPENDENT KINASE 19; CDK19", "OMIM:614721": "TSPY-LIKE 5; TSPYL5", "OMIM:614722": "MICRO RNA 3120; MIR3120", "OMIM:614724": "CENTROSOMAL PROTEIN, 63-KD; CEP63", "OMIM:614725": "SERINE ACTIVE SITE-CONTAINING PROTEIN 1; SERAC1", "OMIM:614726": "TRANSMEMBRANE PROTEIN 165; TMEM165", "OMIM:614729": "COP9 SIGNALOSOME, SUBUNIT 6; COPS6", "OMIM:614730": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O PROTEIN; PIGO", "OMIM:614731": "PROSTATE CANCER, HEREDITARY, 2; HPC2", "OMIM:614733": "MICRO RNA 193A; MIR193A", "OMIM:614734": "MICRO RNA 193B; MIR193B", "OMIM:614735": "MICRO RNA 365A; MIR365A", "OMIM:614737": "MITOCHONDRIAL PYRUVATE CARRIER 2; MPC2", "OMIM:614738": "MITOCHONDRIAL PYRUVATE CARRIER 1; MPC1", "OMIM:614740": "BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7", "OMIM:614745": "BLOOD GROUP, JOHN MILTON HAGEN SYSTEM; JMH", "OMIM:614746": "URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 5; UAQTL5", "OMIM:614747": "URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 6; UAQTL6", "OMIM:614752": "INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS", "OMIM:614754": "DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 3; DMRT3", "OMIM:614755": "MICRO RNA 520H; MIR520H", "OMIM:614757": "INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 5; IFITM5", "OMIM:614758": "DYNACTIN 4; DCTN4", "OMIM:614759": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 53; CFAP53", "OMIM:614760": "SOLUTE CARRIER FAMILY 66, MEMBER 1; SLC66A1", "OMIM:614761": "GLYCINE N-ACYLTRANSFERASE-LIKE 1; GLYATL1", "OMIM:614762": "GLYCINE N-ACYLTRANSFERASE-LIKE 2; GLYATL2", "OMIM:614763": "GLYCINE N-ACYLTRANSFERASE-LIKE 3; GLYATL3", "OMIM:614764": "KATANIN, p60 SUBUNIT, A-LIKE 1; KATNAL1", "OMIM:614765": "STRIATIN, CALMODULIN-BINDING PROTEIN; STRN", "OMIM:614766": "STRIATIN, CALMODULIN-BINDING PROTEIN 3; STRN3", "OMIM:614767": "STRIATIN, CALMODULIN-BINDING PROTEIN 4; STRN4", "OMIM:614768": "TRANSMEMBRANE PROTEIN 66; TMEM66", "OMIM:614769": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR 1 HOMOLOG; COA1", "OMIM:614770": "PET100 CYTOCHROME c OXIDASE CHAPERONE; PET100", "OMIM:614771": "PET117 CYTOCHROME c OXIDASE CHAPERONE; PET117", "OMIM:614772": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR 6; COA6", "OMIM:614773": "MSS51 MITOCHONDRIAL TRANSLATIONAL ACTIVATOR; MSS51", "OMIM:614774": "PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 1; PTCD1", "OMIM:614775": "CYTOCHROME C OXIDASE ASSEMBLY FACTOR 3; COA3", "OMIM:614776": "SIK FAMILY KINASE 3; SIK3", "OMIM:614777": "MMS19 HOMOLOG, CYTOSOLIC IRON-SULFUR ASSEMBLY COMPONENT; MMS19", "OMIM:614778": "CYTOSOLIC IRON-SULFUR ASSEMBLY COMPONENT 2B; CIAO2B", "OMIM:614780": "SORTING NEXIN 10; SNX10", "OMIM:614781": "TECTONIN BETA-PROPELLER REPEAT-CONTAINING 1; TECPR1", "OMIM:614783": "POC1 CENTRIOLAR PROTEIN A; POC1A", "OMIM:614784": "POC1 CENTRIOLAR PROTEIN B; POC1B", "OMIM:614785": "MITOCHONDRIAL FISSION FACTOR; MFF", "OMIM:614786": "TRANSMEMBRANE PROTEIN 207; TMEM207", "OMIM:614787": "POGO TRANSPOSABLE ELEMENT-DERIVED PROTEIN WITH ZNF DOMAIN; POGZ", "OMIM:614788": "FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 5; FGD5", "OMIM:614789": "EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; EOGT", "OMIM:614790": "WT1-INTERACTING PROTEIN; WTIP", "OMIM:614791": "MICRO RNA 199B; MIR199B", "OMIM:614792": "TRANSMEMBRANE AND UBIQUITIN-LIKE DOMAIN-CONTAINING PROTEIN 1; TMUB1", "OMIM:614793": "MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 21; MAP3K21", "OMIM:614794": "1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 3; AGPAT3", "OMIM:614795": "1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 4; AGPAT4", "OMIM:614796": "1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 5; AGPAT5", "OMIM:614797": "PELLINO E3 UBIQUITIN PROTEIN LIGASE 1; PELI1", "OMIM:614798": "PELLINO E3 UBIQUITIN PROTEIN LIGASE 2; PELI2", "OMIM:614799": "AFG2 INTERACTING RIBOSOME MATURATION FACTOR; AIRIM", "OMIM:614801": "MSL COMPLEX SUBUNIT 1; MSL1", "OMIM:614802": "MSL COMPLEX SUBUNIT 2; MSL2", "OMIM:614803": "DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR A1; DMRTA1", "OMIM:614804": "DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR A2; DMRTA2", "OMIM:614805": "DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR B1; DMRTB1", "OMIM:614806": "DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR C2; DMRTC2", "OMIM:614810": "MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5; MS5", "OMIM:614811": "L-3-HYDROXYPROLINE DEHYDRATASE, TRANS; L3HYPDH", "OMIM:614812": "NUCLEAR PROTEIN, TRANSCRIPTIONAL REGULATOR, 1; NUPR1", "OMIM:614818": "FRY MICROTUBULE-BINDING PROTEIN; FRY", "OMIM:614821": "PTCSC3 GENE; PTCSC3", "OMIM:614824": "ADAPTOR-RELATED PROTEIN COMPLEX 5, SIGMA-1 SUBUNIT; AP5S1", "OMIM:614825": "RALBP1-ASSOCIATED EPS DOMAIN-CONTAINING PROTEIN 1; REPS1", "OMIM:614827": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 11; DNAJC11", "OMIM:614828": "PROTEIN O-MANNOSE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE 2; POMGNT2", "OMIM:614829": "ODONTOGENESIS-ASSOCIATED PHOSPHOPROTEIN; ODAPH", "OMIM:614834": "THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 3; TTPP3", "OMIM:614835": "ACTIN, BETA-LIKE, 2; ACTBL2", "OMIM:614836": "HUMAN HERPESVIRUS 8, SUSCEPTIBILITY TO; HHV8S", "OMIM:614843": "ODONTOGENIC AMELOBLAST-ASSOCIATED PROTEIN; ODAM", "OMIM:614846": "TETRASOMY 15q26", "OMIM:614848": "CENTROSOMAL PROTEIN, 164-KD; CEP164", "OMIM:614849": "IMMUNODEFICIENCY 132A; IMD132A", "OMIM:614853": "CYTOKINE RECEPTOR-LIKE FACTOR 3; CRLF3", "OMIM:614854": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 59; LRRC59", "OMIM:614855": "TBC1 DOMAIN FAMILY, MEMBER 14; TBC1D14", "OMIM:614864": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 5; DNAAF5", "OMIM:614865": "D4Z4 BINDING ELEMENT TRANSCRIPT, NONCODING; DBET", "OMIM:614875": "METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA", "OMIM:614884": "VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 3B; VWA3B", "OMIM:614888": "ALPHA- AND GAMMA-ADAPTIN-BINDING PROTEIN; AAGAB", "OMIM:614901": "BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE KINASE; BCKDK", "OMIM:614902": "RHO GTPase-ACTIVATING PROTEIN 33; ARHGAP33", "OMIM:614903": "SORTING NEXIN 16; SNX16", "OMIM:614904": "SORTING NEXIN 7; SNX7", "OMIM:614905": "SORTING NEXIN 8; SNX8", "OMIM:614906": "SORTING NEXIN 11; SNX11", "OMIM:614907": "PRE-mRNA-PROCESSING FACTOR 39; PRPF39", "OMIM:614908": "HEAT SHOCK PROTEIN NUCLEAR IMPORT FACTOR HIKESHI; HIKESHI", "OMIM:614909": "TRANSMEMBRANE PROTEIN 174; TMEM174", "OMIM:614910": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 6; C1QTNF6", "OMIM:614911": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 4; C1QTNF4", "OMIM:614912": "TRAB DOMAIN-CONTAINING PROTEIN 2A; TRABD2A", "OMIM:614913": "TRAB DOMAIN-CONTAINING PROTEIN 2B; TRABD2B", "OMIM:614914": "MICRO RNA 298; MIR298", "OMIM:614917": "REQUIRED FOR MEIOTIC NUCLEAR DIVISION 1 HOMOLOG; RMND1", "OMIM:614918": "PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3; PTCD3", "OMIM:614919": "NITRIC OXIDE-ASSOCIATED PROTEIN 1; NOA1", "OMIM:614925": "OTOGELIN-LIKE PROTEIN; OTOGL", "OMIM:614930": "DYNEIN, AXONEMAL, ASSEMBLY FACTOR 11; DNAAF11", "OMIM:614933": "LONG INTERGENIC NONCODING RNA, MUSCLE DIFFERENTIATION 1; LINCMD1", "OMIM:614938": "VAULT RNA 2-1; VTRNA2-1", "OMIM:614939": "PHOSPHOGLYCERATE MUTASE FAMILY, MEMBER 5; PGAM5", "OMIM:614942": "PHOSPHATIDYLGLYCEROPHOSPHATE SYNTHASE 1; PGS1", "OMIM:614943": "TP53-REGULATED INHIBITOR OF APOPTOSIS 1; TRIAP1", "OMIM:614948": "TAM41 MITOCHONDRIAL TRANSLOCATOR ASSEMBLY AND MAINTENANCE HOMOLOG; TAMM41", "OMIM:614949": "TRANSMEMBRANE PROTEIN 231; TMEM231", "OMIM:614950": "TRANSMEMBRANE PROTEIN 17; TMEM17", "OMIM:614951": "HEAT REPEAT-CONTAINING PROTEIN 3; HEATR3", "OMIM:614952": "SCHLAFEN FAMILY, MEMBER 5; SLFN5", "OMIM:614953": "SCHLAFEN FAMILY, MEMBER 11; SLFN11", "OMIM:614955": "SCHLAFEN FAMILY, MEMBER 12; SLFN12", "OMIM:614956": "SCHLAFEN FAMILY, MEMBER 12-LIKE; SLFN12L", "OMIM:614957": "SCHLAFEN FAMILY, MEMBER 13; SLFN13", "OMIM:614958": "SCHLAFEN FAMILY, MEMBER 14; SLFN14", "OMIM:614960": "PHOSPHOLIPASE D FAMILY, MEMBER 6; PLD6", "OMIM:614964": "EXTRACELLULAR LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; ELFN1", "OMIM:614965": "SECERNIN 1; SCRN1", "OMIM:614966": "SECERNIN 2; SCRN2", "OMIM:614967": "SECERNIN 3; SCRN3", "OMIM:614968": "SH2 DOMAIN-CONTAINING PROTEIN 4A; SH2D4A", "OMIM:614971": "TAURINE-UPREGULATED GENE 1, NONCODING; TUG1", "OMIM:614973": "FOCAL FACIAL DERMAL DYSPLASIA 2, BRAUER-SETLEIS TYPE; FFDD2", "OMIM:614975": "FOXF1 ADJACENT NONCODING DEVELOPMENTAL REGULATORY RNA; FENDRR", "OMIM:614977": "LONG INTERGENIC NONCODING RNA 1081; LINC01081", "OMIM:614978": "LONG INTERGENIC NONCODING RNA 1082; LINC01082", "OMIM:614981": "ATPase INHIBITORY FACTOR 1; ATPIF1", "OMIM:614982": "STRUCTURAL MAINTENANCE OF CHROMOSOMES FLEXIBLE HINGE DOMAIN-CONTAINING PROTEIN 1; SMCHD1", "OMIM:614983": "BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE 2; BATF2", "OMIM:614984": "DEHYDROGENASE E1 AND TRANSKETOLASE DOMAINS-CONTAINING PROTEIN 1; DHTKD1", "OMIM:614985": "HELLP SYNDROME-ASSOCIATED LONG NONCODING RNA; HELLPAR", "OMIM:614986": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 1; CAMK2N1", "OMIM:614987": "EPS8-LIKE PROTEIN 1; EPS8L1", "OMIM:614988": "EPS8-LIKE PROTEIN 2; EPS8L2", "OMIM:614989": "EPS8-LIKE PROTEIN 3; EPS8L3", "OMIM:614991": "UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1, ANTISENSE; UCH1LAS", "OMIM:614992": "LONG INTERGENIC NONCODING RNA 237; LINC00237", "OMIM:614993": "CAM KINASE-LIKE VESICLE-ASSOCIATED; CAMKV", "OMIM:614994": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IG; CAMK1G", "OMIM:614995": "INTERLEUKIN 17 RECEPTOR E; IL17RE", "OMIM:614996": "MYELINATING SCHWANN CELL ELEMENT; MSE", "OMIM:614997": "GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 2A; GATAD2A", "OMIM:614998": "GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 2B; GATAD2B", "OMIM:614999": "CYTOCHROME P450, FAMILY 4, SUBFAMILY X, POLYPEPTIDE 1; CYP4X1", "OMIM:615000": "TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; TECPR2", "OMIM:615001": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12C; ZC3H12C", "OMIM:615002": "CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE KINASE 2, BETA; CAMKK2", "OMIM:615003": "DDHD DOMAIN-CONTAINING PROTEIN 2; DDHD2", "OMIM:615004": "LEUCINE-RICH REPEAT, IMMUNOGLOBULIN-LIKE, AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 3; LRIT3", "OMIM:615011": "PHOSPHOHYDROXYLYSINURIA; PHLU", "OMIM:615012": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER G; HIST1H2AG", "OMIM:615013": "HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER H; HIST1H2AH", "OMIM:615014": "HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER B; HIST2H2AB", "OMIM:615015": "HISTONE GENE CLUSTER 3, H2A HISTONE; HIST3H2A", "OMIM:615016": "OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY J, MEMBER 3; OR2J3", "OMIM:615017": "MICRO RNA 139; MIR139", "OMIM:615018": "BLOOD GROUP, SID SYSTEM; SID", "OMIM:615019": "ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 5; ELP5", "OMIM:615020": "ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 6; ELP6", "OMIM:615021": "BLOOD GROUP, GLOBOSIDE SYSTEM; GLOB", "OMIM:615027": "SIN3-HDAC COMPLEX ASSOCIATED FACTOR; SINHCAF", "OMIM:615029": "PRECEREBELLIN 4; CBLN4", "OMIM:615036": "MICRO RNA 410; MIR410", "OMIM:615037": "MICRO RNA 487B; MIR487B", "OMIM:615038": "OUTER DYNEIN ARM DOCKING COMPLEX SUBUNIT 1; ODAD1", "OMIM:615039": "N-DEACETYLASE/N-SULFOTRANSFERASE 4; NDST4", "OMIM:615044": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER J; HIST1H2BJ", "OMIM:615045": "HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER K; HIST1H2BK", "OMIM:615046": "HISTONE GENE CLUSTER 3, H2B HISTONE FAMILY, MEMBER B; HIST3H2BB", "OMIM:615047": "TETRATRICOPEPTIDE REPEAT-, ANKYRIN REPEAT-, AND COILED-COIL-CONTAINING PROTEIN 2; TANC2", "OMIM:615049": "WW DOMAIN-CONTAINING ADAPTOR WITH COILED-COIL REGION; WAC", "OMIM:615050": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 5; ASB5", "OMIM:615051": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 6; ASB6", "OMIM:615052": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 7; ASB7", "OMIM:615053": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 8; ASB8", "OMIM:615054": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 10; ASB10", "OMIM:615055": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 13; ASB13", "OMIM:615056": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 16; ASB16", "OMIM:615060": "SECRETOGLOBIN, FAMILY 1D, MEMBER 1; SCGB1D1", "OMIM:615061": "SECRETOGLOBIN, FAMILY 1D, MEMBER 2; SCGB1D2", "OMIM:615062": "SECRETOGLOBIN, FAMILY 1D, MEMBER 4; SCGB1D4", "OMIM:615063": "SECRETOGLOBIN, FAMILY 2B, MEMBER 2; SCGB2B2", "OMIM:615064": "SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 29; SLC25A29", "OMIM:615068": "ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5 HOMOLOG; EPG5", "OMIM:615069": "H4 HISTONE 16; H4-16", "OMIM:615070": "MICRO RNA 590; MIR590", "OMIM:615076": "MITOCHONDRIAL GENOME MAINTENANCE EXONUCLEASE 1; MGME1", "OMIM:615077": "TBC1 DOMAIN FAMILY, MEMBER 30; TBC1D30", "OMIM:615078": "GOLGI TRANSPORT 1B; GOLT1B", "OMIM:615079": "INTEGRATOR COMPLEX SUBUNIT 13; INTS13", "OMIM:615080": "ALZHEIMER DISEASE 17; AD17", "OMIM:615082": "C3HEX, ABILITY TO SMELL", "OMIM:615086": "HARBINGER TRANSPOSASE-DERIVED GENE 1; HARBI1", "OMIM:615088": "AUTOPHAGY-RELATED 13; ATG13", "OMIM:615089": "AUTOPHAGY-RELATED PROTEIN 101; ATG101", "OMIM:615090": "INTERFERON, LAMBDA-4; IFNL4", "OMIM:615091": "AUTISM, SUSCEPTIBILITY TO, 19; AUTS19", "OMIM:615093": "LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS K; LY6K", "OMIM:615094": "PROSPERO-RELATED HOMEOBOX 2; PROX2", "OMIM:615096": "MICRO RNA 217; MIR217", "OMIM:615097": "SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 13; SLC6A13", "OMIM:615098": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 28; TTC28", "OMIM:615099": "ERYTHROFERRONE; ERFE", "OMIM:615100": "CTTNBP2 N TERMINUS-LIKE PROTEIN; CTTNBP2NL", "OMIM:615101": "TUBULIN, BETA-2A; TUBB2A", "OMIM:615103": "TUBULIN, BETA-6; TUBB6", "OMIM:615104": "NCK-ASSOCIATED PROTEIN 5-LIKE; NCKAP5L", "OMIM:615105": "METHYLTHIORIBOSE-1-PHOSPHATE ISOMERASE 1; MRI1", "OMIM:615110": "WD REPEAT-CONTAINING PROTEIN 53; WDR53", "OMIM:615111": "DENN/MADD DOMAIN-CONTAINING PROTEIN 2D; DENND2D", "OMIM:615114": "ZINC FINGER PROTEIN 516; ZNF516", "OMIM:615115": "ASXL TRANSCRIPTIONAL REGULATOR 3; ASXL3", "OMIM:615116": "SPERMATID MATURATION PROTEIN 1; SPEM1", "OMIM:615117": "CHROMOSOME 2 OPEN READING FRAME 88; C2ORF88", "OMIM:615121": "STOMATIN-LIKE PROTEIN-2, HYPERPHOSPHORYLATION OF", "OMIM:615123": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13A; ANKRD13A", "OMIM:615124": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13B; ANKRD13B", "OMIM:615125": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13C; ANKRD13C", "OMIM:615126": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13D; ANKRD13D", "OMIM:615128": "CENTROMERIC PROTEIN X; CENPX", "OMIM:615129": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 5; GALNT5", "OMIM:615130": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 11; GALNT11", "OMIM:615131": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 15; GALNT15", "OMIM:615132": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 16; GALNT16", "OMIM:615133": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 5; GALNTL5", "OMIM:615135": "MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV", "OMIM:615136": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 18; GALNT18", "OMIM:615137": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 17; GALNT17", "OMIM:615138": "UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 6; GALNTL6", "OMIM:615140": "CHROMOSOME 12 OPEN READING FRAME 57; C12ORF57", "OMIM:615142": "KINESIN FAMILY MEMBER 2B; KIF2B", "OMIM:615143": "UBIQUITIN-SPECIFIC PROTEASE 20; USP20", "OMIM:615144": "PROTEASE, SERINE, 55; PRSS55", "OMIM:615146": "UBIQUITIN-SPECIFIC PROTEASE 33; USP33", "OMIM:615148": "MICRO RNA 551A; MIR551A", "OMIM:615149": "MICRO RNA 495; MIR495", "OMIM:615150": "MICRO RNA 191; MIR191", "OMIM:615151": "MICRO RNA 30C-1; MIR30C1", "OMIM:615152": "KELCH DOMAIN-CONTAINING PROTEIN 10; KLHDC10", "OMIM:615153": "MIXED LINEAGE KINASE DOMAIN-LIKE PROTEIN; MLKL", "OMIM:615154": "DPY30 DOMAIN-CONTAINING PROTEIN 1; DYDC1", "OMIM:615161": "MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-2; HLA-DQB2", "OMIM:615164": "AKIRIN 1; AKIRIN1", "OMIM:615165": "AKIRIN 2; AKIRIN2", "OMIM:615166": "C-X9-C MOTIF-CONTAINING 1; CMC1", "OMIM:615167": "LEUCINE-RICH REPEATS- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; LRWD1", "OMIM:615168": "ARCHAELYSIN FAMILY METALLOPEPTIDASE 1; AMZ1", "OMIM:615169": "ARCHAELYSIN FAMILY METALLOPEPTIDASE 2; AMZ2", "OMIM:615171": "LOC100134040 GENE", "OMIM:615172": "RING FINGER PROTEIN, TRANSMEMBRANE 1; RNFT1", "OMIM:615173": "LONG INTERGENIC NONCODING RNA, REGULATOR OF REPROGRAMMING; LINC-ROR", "OMIM:615174": "L-THREONINE DEHYDROGENASE, PSEUDOGENE; TDH", "OMIM:615175": "TLC DOMAIN-CONTAINING PROTEIN 3B; TLCD3B", "OMIM:615176": "NPTN INTRONIC TRANSCRIPT 1, NONCODING; NPTNIT1", "OMIM:615177": "RING FINGER PROTEIN 126; RNF126", "OMIM:615178": "KXDL MOTIF-CONTAINING PROTEIN 1; KXD1", "OMIM:615180": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 21; TIMM21", "OMIM:615183": "FA CORE COMPLEX-ASSOCIATED PROTEIN 20; FAAP20", "OMIM:615186": "CWC22 SPLICEOSOME-ASSOCIATED PROTEIN HOMOLOG; CWC22", "OMIM:615187": "POST-GPI ATTACHMENT TO PROTEINS 2; PGAP2", "OMIM:615189": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 55; ANKRD55", "OMIM:615192": "BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 4; BWQTL4", "OMIM:615194": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 2; DHRS2", "OMIM:615195": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4-LIKE 1; DHRS4L1", "OMIM:615196": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4-LIKE 2; DHRS4L2", "OMIM:615197": "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 8; RLS8", "OMIM:615199": "SOLUTE CARRIER FAMILY 35, MEMBER G5; SLC35G5", "OMIM:615200": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY F, MEMBER 1; PLEKHF1", "OMIM:615201": "MICRO RNA 1909; MIR1909", "OMIM:615202": "MICRO RNA 1915; MIR1915", "OMIM:615203": "RHOMBOID DOMAIN-CONTAINING PROTEIN 2; RHBDD2", "OMIM:615204": "ATP SYNTHASE MEMBRANE SUBUNIT DAPIT; ATP5MD", "OMIM:615205": "SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 13; SPINK13", "OMIM:615208": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY F, MEMBER 2; PLEKHF2", "OMIM:615209": "MICRO RNA 149; MIR149", "OMIM:615210": "PEST-CONTAINING NUCLEAR PROTEIN; PCNP", "OMIM:615211": "UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 2, E3 UBIQUITIN PROTEIN LIGASE; UHRF2", "OMIM:615212": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 38; LRRC38", "OMIM:615213": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 55; LRRC55", "OMIM:615215": "POTASSIUM CHANNEL, SUBFAMILY U, MEMBER 1; KCNU1", "OMIM:615216": "KINESIN FAMILY MEMBER C2; KIFC2", "OMIM:615218": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 52; LRRC52", "OMIM:615221": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16", "OMIM:615223": "INTERFERON, EPSILON; IFNE", "OMIM:615227": "COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 3; C1QL3", "OMIM:615229": "COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 4; C1QL4", "OMIM:615230": "LONG INTERGENIC NONCODING RNA 1080; LINC01080", "OMIM:615231": "RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING PROTEIN 2; RC3H2", "OMIM:615232": "SCHIZOPHRENIA 18; SCZD18", "OMIM:615239": "MICRO RNA 7-1; MIR7-1", "OMIM:615240": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 15; KCTD15", "OMIM:615241": "TERMINAL DIFFERENTIATION-INDUCED NONCODING RNA; TINCR", "OMIM:615242": "SMALL INTEGRAL MEMBRANE PROTEIN 1; SMIM1", "OMIM:615243": "DEFENSIN, BETA, 114; DEFB114", "OMIM:615245": "MICRO RNA 671; MIR671", "OMIM:615246": "ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 2; ZBED2", "OMIM:615247": "PROTEIN-O-MANNOSE KINASE; POMK", "OMIM:615250": "ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 3; ZBED3", "OMIM:615251": "ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 5; ZBED5", "OMIM:615252": "ZBED6 C TERMINUS-LIKE PROTEIN; ZBED6CL", "OMIM:615253": "ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 8; ZBED8", "OMIM:615254": "SCAN DOMAIN-CONTAINING PROTEIN 3; SCAND3", "OMIM:615255": "METHYLTRANSFERASE-LIKE 18; METTL18", "OMIM:615256": "ELECTRON TRANSFER FLAVOPROTEIN BETA-SUBUNIT LYSINE METHYLTRANSFERASE; ETFBKMT", "OMIM:615257": "METHYLTRANSFERASE 21A, HSPA LYSINE; METTL21A", "OMIM:615258": "EEF1A LYSINE METHYLTRANSFERASE 3; EEF1AKMT3", "OMIM:615259": "METHYLTRANSFERASE 21C, AARS1 LYSINE; METTL21C", "OMIM:615260": "VALOSIN-CONTAINING PROTEIN LYSINE METHYLTRANSFERASE; VCPKMT", "OMIM:615261": "METHYLTRANSFERASE 22, KIN27 LYSINE; METTL22", "OMIM:615262": "METHYLTRANSFERASE-LIKE 23; METTL23", "OMIM:615263": "EUKARYOTIC ELONGATION FACTOR 2 LYSINE METHYLTRANSFERASE; EEF2KMT", "OMIM:615264": "BLOOD GROUP, VEL SYSTEM; VEL", "OMIM:615265": "FORMIN-BINDING PROTEIN 4; FNBP4", "OMIM:615275": "ACONITATE DECARBOXYLASE 1; ACOD1", "OMIM:615276": "CERAMIDE SYNTHASE 3; CERS3", "OMIM:615283": "EXOCYST COMPLEX COMPONENT 8; EXOC8", "OMIM:615288": "DYNEIN REGULATORY COMPLEX, SUBUNIT 1; DRC1", "OMIM:615289": "MITOTIC SPINDLE-POSITIONING PROTEIN; MISP", "OMIM:615291": "BETA-1,3-GALACTOSYLTRANSFERASE 6; B3GALT6", "OMIM:615292": "FAMILY WITH SEQUENCE SIMILARITY 111, MEMBER A; FAM111A", "OMIM:615295": "UBIQUITIN-SPECIFIC PROTEASE 34; USP34", "OMIM:615296": "INTERLEUKIN 1 FAMILY, MEMBER 10; IL1F10", "OMIM:615299": "NUCLEOREDOXIN-LIKE PROTEIN 2; NXNL2", "OMIM:615301": "TRANSMEMBRANE PROTEIN 214; TMEM214", "OMIM:615302": "ADENOSINE DEAMINASE, tRNA-SPECIFIC, 3; ADAT3", "OMIM:615303": "tRNA GLYCINE (ANTICODON TCC) 1-1; TRG-TCC1-1", "OMIM:615304": "tRNA VALINE (ANTICODON CAC) 3-1; TRV-CAC3-1", "OMIM:615305": "tRNA ARGININE (ANTICODON ACG) 1-2; TRR-ACG1-2", "OMIM:615306": "tRNA VALINE (ANTICODON CAC) 1-6; TRV-CAC1-6", "OMIM:615307": "tRNA VALINE (ANTICODON AAC) 5-1; TRV-AAC5-1", "OMIM:615308": "tRNA VALINE (ANTICODON AAC) 4-1; TRV-AAC4-1", "OMIM:615309": "tRNA THREONINE (ANTICODON AGT) 2-2; TRT-AGT2-2", "OMIM:615310": "tRNA VALINE (ANTICODON AAC) 1-1; TRV-AAC1-1", "OMIM:615311": "BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17; BMND17", "OMIM:615313": "BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 7; B3GNT7", "OMIM:615315": "BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 6; B3GNT6", "OMIM:615316": "IRON-SULFUR CLUSTER ASSEMBLY FACTOR IBA57; IBA57", "OMIM:615317": "IRON-SULFUR CLUSTER ASSEMBLY 2; ISCA2", "OMIM:615318": "TRANSMEMBRANE PROTEIN 14C; TMEM14C", "OMIM:615319": "IMPACT RWD DOMAIN PROTEIN; IMPACT", "OMIM:615320": "GDP-MANNOSE PYROPHOSPHORYLASE B; GMPPB", "OMIM:615321": "CHLORIDE INTRACELLULAR CHANNEL 6; CLIC6", "OMIM:615322": "NEGATIVE REGULATOR OF REACTIVE OXYGEN SPECIES; NRROS", "OMIM:615323": "JOSEPHIN DOMAIN-CONTAINING PROTEIN 1; JOSD1", "OMIM:615324": "JOSEPHIN DOMAIN-CONTAINING PROTEIN 2; JOSD2", "OMIM:615326": "INTERFERON, KAPPA; IFNK", "OMIM:615329": "EXOCYST COMPLEX COMPONENT 2; EXOC2", "OMIM:615331": "INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN 1; IRF2BP1", "OMIM:615332": "INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN 2; IRF2BP2", "OMIM:615333": "BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 5; B3GNT5", "OMIM:615334": "CERAMIDE SYNTHASE 4; CERS4", "OMIM:615335": "CERAMIDE SYNTHASE 5; CERS5", "OMIM:615336": "CERAMIDE SYNTHASE 6; CERS6", "OMIM:615337": "BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE-LIKE 1; B3GNTL1", "OMIM:615339": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 15; DNAJC15", "OMIM:615340": "KELCH-LIKE 40: KLHL40", "OMIM:615341": "CYTOCHROME P450, FAMILY 4, SUBFAMILY A, POLYPEPTIDE 22; CYP4A22", "OMIM:615345": "MYOMAKER; MYMK", "OMIM:615347": "ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 2B; ATAD2B", "OMIM:615353": "COILED-COIL DOMAIN-CONTAINING PROTEIN 28A; CCDC28A", "OMIM:615354": "LIGAND-DEPENDENT NUCLEAR RECEPTOR-INTERACTING FACTOR 1; LRIF1", "OMIM:615357": "BETA-1,3-GALACTOSYLTRANSFERASE 8; B3GNT8", "OMIM:615358": "ADENYLATE KINASE 9; AK9", "OMIM:615359": "MEIOSIS REGULATOR FOR OOCYTE DEVELOPMENT; MIOS", "OMIM:615364": "ADENYLATE KINASE 7; AK7", "OMIM:615365": "ADENYLATE KINASE 8; AK8", "OMIM:615366": "NUCLEOLAR PROTEIN 11; NOL11", "OMIM:615367": "N-TERMINAL ASPARAGINE AMIDASE; NTAN1", "OMIM:615370": "ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 6; ANKS6", "OMIM:615371": "PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO; PHN", "OMIM:615372": "MICRO RNA 1260B; MIR1260B", "OMIM:615375": "INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1-BINDING PROTEIN 1; IRAK1BP1", "OMIM:615379": "MICRO RNA 650; MIR650", "OMIM:615380": "APOPTOSIS-RESISTANT E3 UBIQUITIN PROTEIN LIGASE 1; AREL1", "OMIM:615383": "FIDGETIN-LIKE PROTEIN 1; FIGNL1", "OMIM:615384": "SCAFFOLDING PROTEIN INVOLVED IN DNA REPAIR; SPIDR", "OMIM:615385": "MICRO RNA 485; MIR485", "OMIM:615388": "ADENOSINE DEAMINASE, tRNA-SPECIFIC, 2; ADAT2", "OMIM:615389": "ISOPENTENYL-DIPHOSPHATE DELTA ISOMERASE 2; IDI2", "OMIM:615390": "VESICOURETERAL REFLUX 7; VUR7", "OMIM:615391": "IDI2 ANTISENSE RNA 1, NONCODING; IDI2AS1", "OMIM:615392": "SCM-LIKE PROTEIN WITH 4 MBT DOMAINS 2; SFMBT2", "OMIM:615393": "MITOCHONDRIAL TRANSCRIPTION TERMINATION FACTOR 4; MTERF4", "OMIM:615394": "NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 4; NSUN4", "OMIM:615403": "THO COMPLEX, SUBUNIT 6; THOC6", "OMIM:615404": "TRANSMEMBRANE 4 L6 FAMILY, MEMBER 20; TM4SF20", "OMIM:615405": "GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-12; GNG12", "OMIM:615406": "GNG12 ANTISENSE RNA 1, NONCODING; GNG12AS1", "OMIM:615407": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 2-BINDING PROTEIN; ARL2BP", "OMIM:615408": "OUTER DYNEIN ARM DOCKING COMPLEX SUBUNIT 2; ODAD2", "OMIM:615409": "SPERMATOGENESIS-ASSOCIATED PROTEIN 33; SPATA33", "OMIM:615410": "MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN 2; MRAP2", "OMIM:615416": "BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A9; BHLHA9", "OMIM:615417": "BET1-LIKE PROTEIN; BET1L", "OMIM:615421": "COILED-COIL DOMAIN-CONTAINING 111; CCDC111", "OMIM:615423": "tRNA METHYLTRANSFERASE 10C, MITOCHONDRIAL RNAse P SUBUNIT; TRMT10C", "OMIM:615427": "ELMO/CED12 DOMAIN-CONTAINING PROTEIN 3; ELMOD3", "OMIM:615428": "DEAD-BOX HELICASE 47; DDX47", "OMIM:615430": "TRANSMEMBRANE PROTEIN 241; TMEM241", "OMIM:615435": "ENDOPLASMIC RETICULUM OXIDOREDUCTIN 1-LIKE; ERO1L", "OMIM:615437": "ENDOPLASMIC RETICULUM OXIDOREDUCTIN 1-LIKE, BETA; ERO1LB", "OMIM:615442": "T-CELL RECEPTOR ALPHA CHAIN VARIABLE GENE CLUSTER; TRAV@", "OMIM:615443": "T-CELL RECEPTOR ALPHA CHAIN JOINING GENE CLUSTER; TRAJ@", "OMIM:615445": "T-CELL RECEPTOR BETA CHAIN CONSTANT REGION 2; TRBC2", "OMIM:615446": "T-CELL RECEPTOR BETA CHAIN VARIABLE GENE CLUSTER; TRBV@", "OMIM:615447": "T-CELL RECEPTOR BETA CHAIN DIVERSITY GENE 1; TRBD1", "OMIM:615448": "T-CELL RECEPTOR BETA CHAIN DIVERSITY GENE 2; TRBD2", "OMIM:615449": "T-CELL RECEPTOR BETA CHAIN JOINING GENE CLUSTER; TRBJ@", "OMIM:615450": "T-CELL RECEPTOR GAMMA CHAIN CONSTANT REGION 2; TRGC2", "OMIM:615452": "PROSTATE CANCER-ASSOCIATED NONCODING RNA 1; PRNCR1", "OMIM:615454": "T-CELL RECEPTOR GAMMA CHAIN VARIABLE GENE CLUSTER; TRGV@", "OMIM:615455": "T-CELL RECEPTOR GAMMA CHAIN JOINING GENE CLUSTER; TRGJ@", "OMIM:615456": "ELMO/CED12 DOMAIN-CONTAINING PROTEIN 1; ELMOD1", "OMIM:615457": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18", "OMIM:615459": "T-CELL RECEPTOR DELTA CHAIN VARIABLE GENE CLUSTER; TRDV@", "OMIM:615460": "T-CELL RECEPTOR DELTA CHAIN DIVERSITY GENE CLUSTER; TRDD@", "OMIM:615461": "T-CELL RECEPTOR DELTA CHAIN JOINING GENE CLUSTER; TRDJ@", "OMIM:615462": "WD REPEAT-CONTAINING PROTEIN 60; WDR60", "OMIM:615463": "SZT2 SUBUNIT OF KICSTOR COMPLEX; SZT2", "OMIM:615464": "DEAD-BOX HELICASE 59; DDX59", "OMIM:615466": "TALIN ROD DOMAIN-CONTAINING PROTEIN 1; TLNRD1", "OMIM:615467": "GLYCOLIPID TRANSFER PROTEIN DOMAIN-CONTAINING PROTEIN 1; GLTPD1", "OMIM:615469": "MICRO RNA 574; MIR574", "OMIM:615470": "CENTROSOMAL PROTEIN, 89-KD; CEP89", "OMIM:615472": "COATOMER PROTEIN COMPLEX, SUBUNIT ZETA-1; COPZ1", "OMIM:615475": "DExH-BOX HELICASE 34; DHX34", "OMIM:615477": "NEURONAL TYROSINE-PHOSPHORYLATED PHOSPHOINOSITIDE 3-KINASE ADAPTOR 1; NYAP1", "OMIM:615478": "NEURONAL TYROSINE-PHOSPHORYLATED PHOSPHOINOSITIDE 3-KINASE ADAPTOR 2; NYAP2", "OMIM:615479": "MYOSIN XVI; MYO16", "OMIM:615480": "BLADDER CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; BLACAT1", "OMIM:615484": "PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 2; PTCD2", "OMIM:615487": "SMALL NUCLEOLAR RNA, H/ACA BOX, 2C; SNORA2C", "OMIM:615488": "KAT8 REGULATORY NSL COMPLEX, SUBUNIT 2; KANSL2", "OMIM:615489": "MACULAR DEGENERATION, AGE-RELATED, 14; ARMD14", "OMIM:615492": "LONG INTERGENIC NONCODING RNA COX2", "OMIM:615494": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 298; CFAP298", "OMIM:615495": "GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA", "OMIM:615496": "ATP/GTP-BINDING PROTEIN-LIKE 1; AGBL1", "OMIM:615497": "MITOCHONDRIAL ELONGATION FACTOR 1; MIEF1", "OMIM:615498": "MITOCHONDRIAL ELONGATION FACTOR 2; MIEF2", "OMIM:615499": "PYRUVATE DEHYDROGENASE PHOSPHATASE CATALYTIC SUBUNIT 2; PDP2", "OMIM:615507": "NISCHARIN; NISCH", "OMIM:615509": "MICRO RNA 675; MIR675", "OMIM:615514": "CYCLIN-DEPENDENT KINASE 12; CDK12", "OMIM:615519": "TARGET OF MYB1-LIKE 2 MEMBRANE TRAFFICKING PROTEIN; TOM1L2", "OMIM:615520": "MICRO RNA 297; MIR297", "OMIM:615521": "SH3 AND CYSTEINE-RICH DOMAINS 3; STAC3", "OMIM:615525": "COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-1; COPG1", "OMIM:615526": "COATOMER PROTEIN COMPLEX, SUBUNIT ZETA-2; COPZ2", "OMIM:615531": "TRANSMEMBRANE PROTEIN 79; TMEM79", "OMIM:615532": "ENDOPLASMIC RETICULUM MEMBRANE-ASSOCIATED RNA DEGRADATION PROTEIN; ERMARD", "OMIM:615533": "TRANSMEMBRANE PROTEIN 126B; TMEM126B", "OMIM:615534": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE DOMAIN-CONTAINING PROTEIN 1; TIMMDC1", "OMIM:615535": "SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 4; SYNE4", "OMIM:615536": "CHROMOSOME 2 OPEN READING FRAME 80; C2ORF80", "OMIM:615543": "ACTIN-RELATED PROTEIN 2/3 COMPLEX INHIBITOR; ARPIN", "OMIM:615545": "LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3; ALL3", "OMIM:615549": "ARMADILLO REPEAT-CONTAINING PROTEIN 5; ARMC5", "OMIM:615556": "ALPHA-TUBULIN ACETYLTRANSFERASE 1; ATAT1", "OMIM:615557": "MELIOIDOSIS, SUSCEPTIBILITY TO", "OMIM:615562": "SPERM-ASSOCIATED ANTIGEN 5; SPAG5", "OMIM:615563": "NUCLEAR RECEPTOR-BINDING PROTEIN 2; NRBP2", "OMIM:615564": "SIDEROFLEXIN 4; SFXN4", "OMIM:615566": "BTB/POZ DOMAIN-CONTAINING PROTEIN 3; BTBD3", "OMIM:615567": "COENZYME Q8B; COQ8B", "OMIM:615568": "SWI/SNF COMPLEX ANTAGONIST ASSOCIATED WITH PROSTATE CANCER 1, NONCODING; SCHLAP1", "OMIM:615569": "SIDEROFLEXIN 1; SFXN1", "OMIM:615570": "SIDEROFLEXIN 2; SFXN2", "OMIM:615571": "SIDEROFLEXIN 3; SFXN3", "OMIM:615572": "SIDEROFLEXIN 5; SFXN5", "OMIM:615576": "MICRO RNA 185; MIR185", "OMIM:615579": "ATAXIN 7-LIKE 3B; ATXN7L3B", "OMIM:615580": "ZINC FINGER PROTEIN 528; ZNF528", "OMIM:615581": "DOUBLE HOMEOBOX 4-LIKE 9; DUX4L9", "OMIM:615584": "FAMILY WITH SEQUENCE SIMILARITY 111, MEMBER B; FAM111B", "OMIM:615585": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 8; SLC38A8", "OMIM:615586": "CENTROSOMAL PROTEIN, 19-KD; CEP19", "OMIM:615587": "NUCLEOPORIN, 188-KD; NUP188", "OMIM:615588": "SINGLE-PASS MEMBRANE PROTEIN WITH ASPARTATE-RICH TAIL 1; SMDT1", "OMIM:615590": "ALZHEIMER DISEASE 18; AD18", "OMIM:615591": "MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15", "OMIM:615594": "APELIN RECEPTOR EARLY ENDOGENOUS LIGAND; APELA", "OMIM:615600": "ZINC FINGER PROTEIN 582; ZNF582", "OMIM:615601": "GLUTAMATE DECARBOXYLASE-LIKE 1; GADL1", "OMIM:615602": "MEMORY QUANTITATIVE TRAIT LOCUS; MEMRYQTL", "OMIM:615603": "CALCINEURIN-LIKE PHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 1; CPPED1", "OMIM:615606": "BUTYROPHILIN-LIKE PROTEIN 8; BTNL8", "OMIM:615608": "V-SET IMMUNOREGULATORY RECEPTOR; VSIR", "OMIM:615609": "SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 3; SIAH3", "OMIM:615610": "CADHERIN-RELATED FAMILY, MEMBER 3; CDHR3", "OMIM:615611": "CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE CHAPERONE SUBUNIT; CLPX", "OMIM:615613": "HEPATOCELLULAR CARCINOMA-ASSOCIATED TRANSCRIPT 5; HCCAT5", "OMIM:615614": "MMS22-LIKE PROTEIN; MMS22L", "OMIM:615618": "PROTEIN O-GLUCOSYLTRANSFERASE 1; POGLUT1", "OMIM:615620": "KAPTIN; KPTN", "OMIM:615621": "RETROELEMENT SILENCING FACTOR 1; RESF1", "OMIM:615622": "TNF- AND HNRNPL-RELATED IMMUNOREGULATORY LONG NONCODING RNA; THRIL", "OMIM:615623": "CYTOCHROME C OXIDASE ASSEMBLY FACTOR 7; COA7", "OMIM:615624": "COLORECTAL NEOPLASIA DIFFERENTIALLY EXPRESSED GENE, NONCODING; CRNDE", "OMIM:615626": "CDAN1-INTERACTING NUCLEASE 1; CDIN1", "OMIM:615627": "BRI3-BINDING PROTEIN; BRI3BP", "OMIM:615628": "BRAIN PROTEIN I3; BRI3", "OMIM:615634": "COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 6; CHCHD6", "OMIM:615635": "ZINC FINGER RNA-BINDING PROTEIN; ZFR", "OMIM:615638": "NON-SMC CONDENSIN I COMPLEX SUBUNIT D2; NCAPD2", "OMIM:615639": "SMALL CAJAL BODY-SPECIFIC RNA 10; SCARNA10", "OMIM:615640": "SMALL CAJAL BODY-SPECIFIC RNA 5; SCARNA5", "OMIM:615641": "SMALL CAJAL BODY-SPECIFIC RNA 6; SCARNA6", "OMIM:615642": "SMALL CAJAL BODY-SPECIFIC RNA 12; SCARNA12", "OMIM:615644": "SMALL CAJAL BODY-SPECIFIC RNA 7; SCARNA7", "OMIM:615645": "SMALL CAJAL BODY-SPECIFIC RNA 17; SCARNA17", "OMIM:615646": "SMALL CAJAL BODY-SPECIFIC RNA 8; SCARNA8", "OMIM:615647": "TESTIS-EXPRESSED GENE 19; TEX19", "OMIM:615648": "NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 3; NLRC3", "OMIM:615650": "REGULATOR OF G PROTEIN SIGNALING 22; RGS22", "OMIM:615652": "ACYL-CoA THIOESTERASE 13; ACOT13", "OMIM:615653": "THIOESTERASE SUPERFAMILY MEMBER 5; THEM5", "OMIM:615655": "ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 3; ZRANB3", "OMIM:615657": "MICRO RNA 142; MIR142", "OMIM:615659": "TRANSMEMBRANE PROTEIN 131; TMEM131", "OMIM:615660": "RIBOSOMAL PROTEIN L10A; RPL10A", "OMIM:615661": "PROGRAMMED CELL DEATH 2-LIKE PROTEIN; PDCD2L", "OMIM:615662": "SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 12; SERPINB12", "OMIM:615664": "THYMOCYTE-EXPRESSED POSITIVE SELECTION-ASSOCIATED PROTEIN 1; TESPA1", "OMIM:615666": "PUTATIVE tRNA METHYLTRANSFERASE 9B; TRMT9B", "OMIM:615667": "ERCC EXCISION REPAIR 6-LIKE 2; ERCC6L2", "OMIM:615669": "EMBIGIN; EMB", "OMIM:615671": "SET DOMAIN-CONTAINING PROTEIN 3; SETD3", "OMIM:615672": "MICRO RNA 497; MIR497", "OMIM:615675": "MICRO RNA 301A; MIR301A", "OMIM:615676": "TESTIS DEVELOPMENT-RELATED GENE 1, NONCODING; TDRG1", "OMIM:615677": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 9; SERPINA9", "OMIM:615678": "SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN 2; SH3BGRL2", "OMIM:615679": "SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN 3; SH3BGRL3", "OMIM:615680": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 16; CARD16", "OMIM:615682": "SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 11; SERPINB11", "OMIM:615684": "HELICASE FOR MEIOSIS 1; HFM1", "OMIM:615687": "BECLIN 2; BECN2", "OMIM:615689": "ADHESION MOLECULE WITH Ig-LIKE DOMAIN 1; AMIGO1", "OMIM:615690": "ADHESION MOLECULE WITH Ig-LIKE DOMAIN 2; AMIGO2", "OMIM:615691": "ADHESION MOLECULE WITH Ig-LIKE DOMAIN 3; AMIGO3", "OMIM:615692": "CHITINASE DOMAIN-CONTAINING PROTEIN 1; CHID1", "OMIM:615693": "COLCA1 GENE; COLCA1", "OMIM:615694": "POU CLASS 2 HOMEOBOX-ASSOCIATING FACTOR 3; POU2AF3", "OMIM:615695": "HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 2; HEXIM2", "OMIM:615698": "PHOSPHOLIPASE D FAMILY, MEMBER 3; PLD3", "OMIM:615699": "ZINC FINGER TRANSLOCATION-ASSOCIATED PROTEIN; ZFTA", "OMIM:615700": "PYRIN DOMAIN-CONTAINING PROTEIN 1; PYDC1", "OMIM:615701": "PYRIN DOMAIN-CONTAINING PROTEIN 2; PYDC2", "OMIM:615702": "OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY AN, MEMBER 1; OR5AN1", "OMIM:615708": "ZINC FINGER PROTEIN 451; ZNF451", "OMIM:615711": "ALZHEIMER DISEASE 19; AD19", "OMIM:615712": "OTU DEUBIQUITINASE WITH LINEAR LINKAGE SPECIFICITY; OTULIN", "OMIM:615713": "ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 8; ZMYND8", "OMIM:615714": "POLR1H ANTISENSE, PSEUDOGENE; POLR1HASP", "OMIM:615717": "BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 3; BPIFB3", "OMIM:615718": "BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 4; BPIFB4", "OMIM:615719": "TCL1 UPSTREAM NEURAL DIFFERENTIATION-ASSOCIATED RNA; TUNAR", "OMIM:615720": "SOLUTE CARRIER FAMILY 7, MEMBER 14; SLC7A14", "OMIM:615727": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 5B; KIR2DL5B", "OMIM:615729": "STRAWBERRY NOTCH, DROSOPHILA, HOMOLOG OF, 2; SBNO2", "OMIM:615730": "DEDICATOR OF CYTOKINESIS 7; DOCK7", "OMIM:615732": "NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 5; NSUN5", "OMIM:615733": "rRNA METHYLTRANSFERASE AND RIBOSOME MATURATION FACTOR BUD23; BUD23", "OMIM:615734": "WD REPEAT-CONTAINING PROTEIN 47; WDR47", "OMIM:615736": "ENDOTHELIAL CELL SURFACE-EXPRESSED CHEMOTAXIS AND APOPTOSIS REGULATOR; ECSCR", "OMIM:615737": "IZUMO1 RECEPTOR, JUNO; IZUMO1R", "OMIM:615738": "VPS51 SUBUNIT OF GARP COMPLEX; VPS51", "OMIM:615739": "POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1B; POU5F1B", "OMIM:615740": "TBC1 DOMAIN FAMILY, MEMBER 5; TBC1D5", "OMIM:615741": "DAP3-BINDING CELL DEATH ENHANCER 1; DELE1", "OMIM:615742": "RGP1 HOMOLOG, RAB6A GEF COMPLEX PARTNER 1; RGP1", "OMIM:615743": "SET DOMAIN-CONTAINING PROTEIN 5; SETD5", "OMIM:615746": "ZXD FAMILY ZINC FINGER PROTEIN C; ZXDC", "OMIM:615747": "CEA CELL ADHESION MOLECULE 8; CEACAM8", "OMIM:615748": "WASH COMPLEX, SUBUNIT 4; WASHC4", "OMIM:615749": "ECULIZUMAB, POOR RESPONSE TO", "OMIM:615753": "POM121 TRANSMEMBRANE NUCLEOPORIN; POM121", "OMIM:615754": "POM121 TRANSMEMBRANE NUCLEOPORIN C; POM121C", "OMIM:615755": "FORKHEAD BOX R1; FOXR1", "OMIM:615756": "SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2-LIKE; SECISBP2L", "OMIM:615757": "KIZUNA CENTROSOMAL PROTEIN; KIZ", "OMIM:615759": "KINASE D-INTERACTING SUBSTRATE, 220-KD; KIDINS220", "OMIM:615762": "GLUTAREDOXIN, CYSTEINE-RICH, 2; GRXCR2", "OMIM:615764": "LONG STRESS-INDUCED NONCODING TRANSCRIPT 5; LSINCT5", "OMIM:615765": "SOLUTE CARRIER FAMILY 16, MEMBER 11; SLC16A11", "OMIM:615766": "MICROTUBULE CROSSLINKING FACTOR 1; MTCL1", "OMIM:615769": "FAMILY WITH SEQUENCE SIMILARITY 169, MEMBER A; FAM169A", "OMIM:615772": "WAP FOUR-DISULFIDE CORE DOMAIN 21, PSEUDOGENE; WFDC21P", "OMIM:615773": "SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 3; SDHAF3", "OMIM:615775": "SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 3; SYCE3", "OMIM:615776": "CILIARY ROOTLET COILED-COIL PROTEIN; CROCC", "OMIM:615778": "CLAUDIN 15; CLDN15", "OMIM:615781": "ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-3 SUBUNIT; AP1S3", "OMIM:615782": "CIRCADIAN-ASSOCIATED REPRESSOR OF TRANSCRIPTION; CIART", "OMIM:615783": "N-ACETYLTRANSFERASE 16; NAT16", "OMIM:615784": "GLUTATHIONE PEROXIDASE 7; GPX7", "OMIM:615786": "NACC FAMILY, MEMBER 2, BEN AND BTB/POZ DOMAINS-CONTAINING; NACC2", "OMIM:615787": "NAD KINASE 2, MITOCHONDRIAL; NADK2", "OMIM:615788": "NEDD4-BINDING PROTEIN 2-LIKE 2; N4BP2L2", "OMIM:615790": "AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1", "OMIM:615791": "NUDIX HYDROLASE 18; NUDT18", "OMIM:615792": "NUDIX HYDROLASE 15; NUDT15", "OMIM:615793": "ISTHMIN 1; ISM1", "OMIM:615794": "FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3A; FNDC3A", "OMIM:615795": "FIBROUS SHEATH-INTERACTING PROTEIN 1; FSIP1", "OMIM:615796": "FIBROUS SHEATH-INTERACTING PROTEIN 2; FSIP2", "OMIM:615797": "HLA COMPLEX GROUP 9, NONCODING; HCG9", "OMIM:615798": "CLAUDIN 6; CLDN6", "OMIM:615799": "CLAUDIN 9; CLDN9", "OMIM:615800": "FASCIN ACTIN-BUNDLING PROTEIN 3, TESTICULAR; FSCN3", "OMIM:615804": "UREIDOIMIDAZOLINE (2-OXO-4-HYDROXY-4-CARBOXY-5-) DECARBOXYLASE; URAD", "OMIM:615805": "URATE (HYDROXYISO-) HYDROLASE, PSEUDOGENE; URAHP", "OMIM:615806": "SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 4; SLC15A4", "OMIM:615808": "TRANSLATION MACHINERY-ASSOCIATED 7, S. CEREVISIAE, HOMOLOG OF; TMA7", "OMIM:615810": "CHROMOSOME 11 OPEN READING FRAME 54; C11ORF54", "OMIM:615811": "PEPTIDYL-PROLYL ISOMERASE-LIKE 3; PPIL3", "OMIM:615813": "FAMILY WITH SEQUENCE SIMILARITY 193, MEMBER B; FAM193B", "OMIM:615814": "SERINE/THREONINE/TYROSINE-INTERACTING PROTEIN; STYX", "OMIM:615815": "SMOOTH MUSCLE- AND ENDOTHELIAL CELL-ENRICHED MIGRATION/DIFFERENTIATION-ASSOCIATED LONG NONCODING RNA; SENCR", "OMIM:615818": "RIBOSOMAL RNA PROCESSING 8; RRP8", "OMIM:615819": "SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 4; SULT1A4", "OMIM:615820": "DDB1- AND CUL4-ASSOCIATED FACTOR 8; DCAF8", "OMIM:615822": "SLX1 HOMOLOG A, STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT; SLX1A", "OMIM:615823": "SLX1 HOMOLOG B, STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT; SLX1B", "OMIM:615825": "SUSHI DOMAIN-CONTAINING PROTEIN 2; SUSD2", "OMIM:615826": "SPERM-TAIL PG-RICH REPEAT-CONTAINING PROTEIN 1; STPG1", "OMIM:615827": "SUSHI DOMAIN-CONTAINING PROTEIN 4; SUSD4", "OMIM:615831": "LYR MOTIF-CONTAINING PROTEIN 7; LYRM7", "OMIM:615832": "UBIQUITIN-CONJUGATING ENZYME E2 Q FAMILY-LIKE PROTEIN 1; UBE2QL1", "OMIM:615835": "CHROMOSOME 16 INVERSION, 0.45-MB", "OMIM:615836": "SERINE/THREONINE PROTEIN KINASE 38-LIKE PROTEIN; STK38L", "OMIM:615839": "2,4-DIENOYL-CoA REDUCTASE 2, PEROXISOMAL; DECR2", "OMIM:615840": "dCTP PYROPHOSPHATASE 1; DCTPP1", "OMIM:615843": "DELTA(4)-DESATURASE, SPHINGOLIPID, 1; DEGS1", "OMIM:615844": "TRIOKINASE AND FMN CYCLASE; TKFC", "OMIM:615845": "MICRO RNA 190A; MIR190A", "OMIM:615847": "CENTROSOMAL PROTEIN, 83-KD; CEP83", "OMIM:615850": "VPS53 SUBUNIT OF GARP COMPLEX; VPS53", "OMIM:615852": "RAS-ASSOCIATED PROTEIN RAB6B; RAB6B", "OMIM:615853": "POLYAMINE OXIDASE; PAOX", "OMIM:615854": "SPERMINE OXIDASE; SMOX", "OMIM:615855": "TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 1; TMTC1", "OMIM:615856": "TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 2; TMTC2", "OMIM:615857": "2-OXOGLUTARATE- AND IRON-DEPENDENT OXYGENASE DOMAIN-CONTAINING PROTEIN 1; OGFOD1", "OMIM:615858": "ROUND SPERMATID BASIC PROTEIN 1; RSBN1", "OMIM:615864": "CENTROSOMAL PROTEIN, 97-KD; CEP97", "OMIM:615865": "NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 4; NEURL4", "OMIM:615867": "TBC1 DOMAIN FAMILY, MEMBER 32; TBC1D32", "OMIM:615868": "SERINE PEPTIDASE INHIBITOR, KAZAL-TYPE, 6; SPINK6", "OMIM:615869": "TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 1; TNFAIP8L1", "OMIM:615870": "INTRAFLAGELLAR TRANSPORT 27; IFT27", "OMIM:615874": "RIBOSOMAL L1 DOMAIN-CONTAINING PROTEIN 1; RSL1D1", "OMIM:615875": "RWD DOMAIN-CONTAINING PROTEIN 3; RWDD3", "OMIM:615876": "RADIAL SPOKE HEAD 3; RSPH3", "OMIM:615880": "RHO GTPase-ACTIVATING PROTEIN 39; ARHGAP39", "OMIM:615881": "PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS; TGQTL", "OMIM:615882": "RAB GTPase-ACTIVATING PROTEIN 1; RABGAP1", "OMIM:615884": "ADIPOCYTE PLASMA MEMBRANE-ASSOCIATED PROTEIN; APMAP", "OMIM:615886": "FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER G; FAM83G", "OMIM:615890": "DYNEIN, CYTOPLASMIC 1, LIGHT INTERMEDIATE CHAIN 1; DYNC1LI1", "OMIM:615891": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 8, OPPOSITE STRAND; ZBTB8OS", "OMIM:615893": "NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 1B; NEURL1B", "OMIM:615894": "ZINC FINGER PROTEIN 407; ZNF407", "OMIM:615898": "NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 7; NDUFAF7", "OMIM:615899": "OLFACTOMEDIN-LIKE 2A; OLFML2A", "OMIM:615900": "AATP/GTP-BINDING PROTEIN-LIKE 5; AGBL5", "OMIM:615901": "NCCRP1, F-BOX-ASSOCIATED DOMAIN CONTAINING; NCCRP1", "OMIM:615902": "PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, GAMMA; PPP2R3C", "OMIM:615903": "COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 10; CHCHD10", "OMIM:615904": "PEROXIDASIN-LIKE PROTEIN; PXDNL", "OMIM:615906": "ORC UBIQUITIN LIGASE 1; OBI1", "OMIM:615908": "MICRO RNA 520C; MIR520C", "OMIM:615910": "NAD(P)HX DEHYDRATASE; NAXD", "OMIM:615912": "GLUTATHIONE S-TRANSFERASE C-TERMINAL DOMAIN-CONTAINING PROTEIN; GSTCD", "OMIM:615913": "PEPTIDASE M20 DOMAIN-CONTAINING PROTEIN 2; PM20D2", "OMIM:615914": "CYCLIN-DEPENDENT KINASE INHIBITOR 2A-INTERACTING PROTEIN; CDKN2AIP", "OMIM:615915": "ZONA PELLUCIDA-LIKE DOMAIN-CONTAINING PROTEIN 1; ZPLD1", "OMIM:615920": "PROLINE-RICH PROTEIN 11; PRR11", "OMIM:615921": "PPARGC1- AND ESRR-INDUCED REGULATOR, MUSCLE, 1; PERM1", "OMIM:615927": "REFILIN A; RFLNA", "OMIM:615928": "REFILIN B; RFLNB", "OMIM:615929": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 17; ANKRD17", "OMIM:615930": "COLORECTAL ADENOCARCINOMA HYPERMETHYLATED GENE, NONCODING; CAHM", "OMIM:615931": "PROLINE-RICH PROTEIN 16; PRR16", "OMIM:615932": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 20; KCTD20", "OMIM:615933": "BTB/POZ DOMAIN-CONTAINING PROTEIN 10; BTBD10", "OMIM:615936": "RHO GTPase-ACTIVATING PROTEIN 42; ARHGAP42", "OMIM:615939": "PROTEIN TYROSINE PHOSPHATASE-LIKE (PROLINE INSTEAD OF CATALYTIC ARGININE), MEMBER B; PTPLB", "OMIM:615940": "PROTEIN TYROSINE PHOSPHATASE-LIKE A DOMAIN-CONTAINING PROTEIN 1; PTPLAD1", "OMIM:615941": "PROTEIN TYROSINE PHOSPHATASE-LIKE A DOMAIN-CONTAINING PROTEIN 2; PTPLAD2", "OMIM:615943": "MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 3; MAGI3", "OMIM:615944": "C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 3; C2CD3", "OMIM:615949": "TRANSMEMBRANE PROTEIN 98; TMEM98", "OMIM:615950": "SPEG COMPLEX LOCUS; SPEG", "OMIM:615951": "ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 6; ZSWIM6", "OMIM:615953": "KALLIKREIN, DECREASED URINARY ACTIVITY OF", "OMIM:615955": "COILED-COIL DOMAIN-CONTAINING PROTEIN 183; CCDC183", "OMIM:615956": "OUTER DYNEIN ARM DOCKING COMPLEX SUBUNIT 3; ODAD3", "OMIM:615958": "SLX4-INTERACTING PROTEIN; SLX4IP", "OMIM:615964": "MIR99A-LET7C CLUSTER HOST GENE, NONCODING; MIR99AHG", "OMIM:615965": "MIR100-LET7A2 CLUSTER HOST GENE, NONCODING; MIR100HG", "OMIM:615967": "CYTOCHROME P450, FAMILY 2, SUBFAMILY W, POLYPEPTIDE 1; CYP2W1", "OMIM:615968": "MYCN UPSTREAM TRANSCRIPT, NONCODING; MYCNUT", "OMIM:615971": "REMOVED FROM DATABASE", "OMIM:615975": "TRANSMEMBRANE PROTEIN 129; TMEM129", "OMIM:615976": "FOXC1 UPSTREAM TRANSCRIPT, NONCODING; FOXCUT", "OMIM:615977": "MICRO RNA 339; MIR339", "OMIM:615997": "DEFENSIN, BETA, 119; DEFB119", "OMIM:615998": "RING FINGER PROTEIN 10; RNF10", "OMIM:615999": "HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH", "OMIM:616003": "APOPTOGENIC PROTEIN 1, MITOCHONDRIAL; APOPT1", "OMIM:616004": "DYSFIBRINOGENEMIA, CONGENITAL", "OMIM:616008": "COP9 SIGNALOSOME, SUBUNIT 4; COPS4", "OMIM:616009": "COP9 SIGNALOSOME, SUBUNIT 7A; COPS7A", "OMIM:616010": "COP9 SIGNALOSOME, SUBUNIT 7B; COPS7B", "OMIM:616011": "COP9 SIGNALOSOME, SUBUNIT 8; COPS8", "OMIM:616012": "JAGUNAL HOMOLOG 1; JAGN1", "OMIM:616013": "tRNA METHYLTRANSFERASE 10A; TRMT10A", "OMIM:616014": "RING FINGER PROTEIN 25; RNF25", "OMIM:616015": "RING FINGER PROTEIN 180; RNF180", "OMIM:616016": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1H; PPM1H", "OMIM:616017": "TRIPARTITE MOTIF-CONTAINING PROTEIN 69; TRIM69", "OMIM:616018": "REMOVED FROM DATABASE", "OMIM:616019": "REST COREPRESSOR 2; RCOR2", "OMIM:616020": "CYSTEINE/TYROSINE-RICH PROTEIN 1; CYYR1", "OMIM:616021": "CYYR1 ANTISENSE RNA 1; CYYR1AS1", "OMIM:616023": "SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 4; SCAF4", "OMIM:616024": "SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 8; SCAF8", "OMIM:616027": "ACTIN-BINDING PROTEIN ANILLIN; ANLN", "OMIM:616031": "COILED-COIL DOMAIN-CONTAINING PROTEIN 141; CCDC141", "OMIM:616035": "FORKHEAD BOX J3; FOXJ3", "OMIM:616036": "MICRO RNA 494; MIR494", "OMIM:616041": "THIOSULFATE SULFURTRANSFERASE (RHODANESE)-LIKE DOMAIN-CONTAINING PROTEIN 1; TSTD1", "OMIM:616043": "PROSTATE CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; PCAT1", "OMIM:616046": "PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 2; PSTPIP2", "OMIM:616047": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 97; CFAP97", "OMIM:616048": "ALU-MEDIATED CDKN1A/p21 TRANSCRIPTIONAL REGULATOR, NONCODING; APTR", "OMIM:616049": "TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 34; TOMM34", "OMIM:616054": "ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 2; ELP2", "OMIM:616057": "TUMOR SUPPRESSOR CANDIDATE 7, NONCODING; TUSC7", "OMIM:616058": "TCF21 ANTISENSE RNA INDUCING PROMOTER DEMETHYLATION; TARID", "OMIM:616060": "BLOOD GROUP, DOMBROCK SYSTEM; DO", "OMIM:616061": "MAX DIMERIZATION PROTEIN MGA; MGA", "OMIM:616062": "ANKYRIN REPEAT- AND LEM DOMAIN-CONTAINING PROTEIN 2; ANKLE2", "OMIM:616064": "TUBULOINTERSTITIAL NEPHRITIS ANTIGEN-LIKE PROTEIN 1; TINAGL1", "OMIM:616065": "PILR-ALPHA-ASSOCIATED NEURAL PROTEIN; PIANP", "OMIM:616066": "SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN 2; SOHLH2", "OMIM:616068": "HOXA CLUSTER ANTISENSE RNA 2, NONCODING; HOXAAS2", "OMIM:616070": "COILED-COIL DOMAIN-CONTAINING PROTEIN 113; CCDC113", "OMIM:616071": "SPERM MICROTUBULE INNER PROTEIN 4; SPMIP4", "OMIM:616072": "HETEROCHROMATIN PROTEIN 1-BINDING PROTEIN 3; HP1BP3", "OMIM:616073": "DEP DOMAIN-CONTAINING PROTEIN 1B; DEPDC1B", "OMIM:616074": "CHEMOKINE-LIKE FACTOR; CKLF", "OMIM:616075": "DEFENSIN, BETA, 121; DEFB121", "OMIM:616076": "DEFENSIN, BETA, 123; DEFB123", "OMIM:616077": "DEFENSIN, BETA, 122, PSEUDOGENE; DEFB122", "OMIM:616082": "FERRY ENDOSOMAL RAB5 EFFECTOR COMPLEX SUBUNIT 3; FERRY3", "OMIM:616085": "ZINC FINGER PROTEIN 37A; ZNF37A", "OMIM:616086": "SprT-LIKE N-TERMINAL DOMAIN PROTEIN; SPRTN", "OMIM:616087": "TYPE 2 DIABETES 5; T2D5", "OMIM:616088": "REGULATOR OF HEMOGLOBINIZATION AND ERYTHROID CELL EXPANSION; RHEX", "OMIM:616089": "BLOOD GROUP, GERBICH SYSTEM; GE", "OMIM:616090": "MICRO RNA 802; MIR802", "OMIM:616091": "METHYLTRANSFERASE-LIKE 17; METTL17", "OMIM:616092": "FOCALLY AMPLIFIED LONG NONCODING RNA IN EPITHELIAL CANCER; FALEC", "OMIM:616093": "BLOOD GROUP, ABO SYSTEM", "OMIM:616096": "MYOSIN HEAVY CHAIN-ASSOCIATED RNA TRANSCRIPT, NONCODING; MHRT", "OMIM:616097": "UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 3; UQCC3", "OMIM:616101": "TRANSMEMBRANE PROTEIN 240; TMEM240", "OMIM:616102": "THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 3; TMX3", "OMIM:616103": "LEUCINE-RICH REPEAT, IMMUNOGLOBULIN-LIKE, AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 1; LRIT1", "OMIM:616104": "RBPJ-LIKE PROTEIN; RBPJL", "OMIM:616105": "SORTING NEXIN 14; SNX14", "OMIM:616107": "FATTY ACYL CoA REDUCTASE 1; FAR1", "OMIM:616109": "TOP6B-LIKE INITIATOR OF MEIOTIC DOUBLE STRAND BREAKS; TOP6BL", "OMIM:616110": "DELTEX E3 UBIQUITIN LIGASE 4; DTX4", "OMIM:616112": "LEIOMODIN 3; LMOD3", "OMIM:616114": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 6; CHD6", "OMIM:616119": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 126; CFAP126", "OMIM:616120": "CWF19-LIKE CELL CYCLE CONTROL FACTOR 1; CWF19L1", "OMIM:616121": "GTPase, VERY LARGE INTERFERON-INDUCIBLE, PSEUDOGENE 1; GVINP1", "OMIM:616122": "FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER B1; FAM86B1", "OMIM:616123": "FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER B2; FAM86B2", "OMIM:616124": "FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER C1, PSEUDOGENE; FAM86C1P", "OMIM:616125": "PROTEIN ARGININE METHYLTRANSFERASE 9; PRMT9", "OMIM:616128": "FAMILY WITH SEQUENCE SIMILARITY 89, MEMBER B; FAM89B", "OMIM:616129": "LEUCINE-RICH ADAPTOR PROTEIN 1; LURAP1", "OMIM:616130": "LEUCINE-RICH ADAPTOR PROTEIN 1-LIKE; LURAP1L", "OMIM:616131": "GASTRIC CANCER-ASSOCIATED TRANSCRIPT 2, NONCODING; GACAT2", "OMIM:616132": "GASTRIC CANCER-ASSOCIATED TRANSCRIPT 3, NONCODING; GACAT3", "OMIM:616133": "MPV17 MITOCHONDRIAL INNER MEMBRANE PROTEIN-LIKE 2; MPV17L2", "OMIM:616134": "H3 HISTONE, FAMILY 3C; H3F3C", "OMIM:616135": "INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 5; IFIT5", "OMIM:616136": "RING FINGER PROTEIN 220; RNF220", "OMIM:616137": "MICRO RNA 873; MIR873", "OMIM:616141": "MACRO H2A.2 HISTONE; MACROH2A2", "OMIM:616142": "FAMILY WITH SEQUENCE SIMILARITY 98, MEMBER B; FAM98B", "OMIM:616143": "LYSOPHOSPHOLIPASE II; LYPLA2", "OMIM:616144": "WD REPEAT-CONTAINING PROTEIN 73; WDR73", "OMIM:616146": "TDP-GLUCOSE 4,6-DEHYDRATASE; TGDS", "OMIM:616147": "CYCLIN-DEPENDENT KINASE 15; CDK15", "OMIM:616148": "TRIPARTITE MOTIF-CONTAINING PROTEIN 59; TRIM59", "OMIM:616149": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PYRIMIDINE NUCLEOTIDE TRANSPORTER), MEMBER 36; SLC25A36", "OMIM:616150": "SOLUTE CARRIER FAMILY 25, MEMBER 48; SLC25A48", "OMIM:616153": "SOLUTE CARRIER FAMILY 25, MEMBER 52; SLC25A52", "OMIM:616156": "FATTY ACYL CoA REDUCTASE 2; FAR2", "OMIM:616157": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 13; DHRS13", "OMIM:616159": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 11; DHRS11", "OMIM:616160": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7B; DHRS7B", "OMIM:616161": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7C; DHRS7C", "OMIM:616162": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 39U, MEMBER 1; SDR39U1", "OMIM:616163": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 12; DHRS12", "OMIM:616164": "SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 42E, MEMBER 1; SDR42E1", "OMIM:616167": "DCN1 DOMAIN-CONTAINING PROTEIN 3; DCUN1D3", "OMIM:616168": "TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 6; TOMM6", "OMIM:616169": "TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 5; TOMM5", "OMIM:616173": "NUCLEAR SPECKLE SPLICING REGULATORY PROTEIN 1; NSRP1", "OMIM:616174": "CYTOSKELETON-ASSOCIATED PROTEIN 2-LIKE; CKAP2L", "OMIM:616175": "UBIQUITIN-CONJUGATING ENZYME E2 J1; UBE2J1", "OMIM:616177": "DDRGK DOMAIN-CONTAINING PROTEIN 1; DDRGK1", "OMIM:616178": "TRANSMEMBRANE PROTEIN 132E; TMEM132E", "OMIM:616179": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 16; TXNDC16", "OMIM:616180": "GOLGIN A8 FAMILY, MEMBER A; GOLGA8A", "OMIM:616181": "ZINC FINGER PROTEIN 713; ZNF713", "OMIM:616182": "CHRONIC MOUNTAIN SICKNESS, SUSCEPTIBILITY TO", "OMIM:616183": "TRANSMEMBRANE PROTEIN 107; TMEM107", "OMIM:616184": "CLUSTERED MITOCHONDRIA, D. DISCOIDEUM, HOMOLOG OF; CLUH", "OMIM:616186": "H19/IGF2-IMPRINTING CONTROL REGION", "OMIM:616189": "CAP METHYLTRANSFERASE 1; CMTR1", "OMIM:616190": "CAP METHYLTRANSFERASE 2; CMTR2", "OMIM:616191": "DISCS LARGE-ASSOCIATED PROTEIN 4; DLGAP4", "OMIM:616194": "UTP15 SMALL SUBUNIT PROCESSOME COMPONENT; UTP15", "OMIM:616195": "WD REPEAT-CONTAINING PROTEIN 43; WDR43", "OMIM:616196": "DDB1- AND CUL4-ASSOCIATED FACTOR 13; DCAF13", "OMIM:616197": "NUCLEOLAR PROTEIN 10; NOL10", "OMIM:616203": "SOLUTE CARRIER FAMILY 38, MEMBER 9; SLC38A9", "OMIM:616205": "MICRO RNA 648; MIR648", "OMIM:616206": "NEUROBLASTOMA-ASSOCIATED TRANSCRIPT 1, NONCODING; NBAT1", "OMIM:616207": "NEGATIVE REGULATOR OF ANTIVIRAL RESPONSE, NONCODING; NRAV", "OMIM:616210": "CHROMOSOME 4 OPEN READING FRAME 46; C4ORF46", "OMIM:616213": "ZINC FINGER PROTEIN 292; ZNF292", "OMIM:616215": "cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 1; CREB3L1", "OMIM:616218": "TBC1 DOMAIN FAMILY, MEMBER 13; TBC1D13", "OMIM:616223": "ANGIOPOIETIN-LIKE 8; ANGPTL8", "OMIM:616225": "AUTOPHAGY-RELATED 2A; ATG2A", "OMIM:616226": "AUTOPHAGY-RELATED 2B; ATG2B", "OMIM:616232": "MEIOTIC KINETOCHORE FACTOR; MEIKIN", "OMIM:616234": "WD REPEAT- AND COILED-COIL-CONTAINING PROTEIN; WDCP", "OMIM:616235": "KATANIN, p80 SUBUNIT, B-LIKE 1; KATNBL1", "OMIM:616236": "CHONDROADHERIN-LIKE; CHADL", "OMIM:616237": "KINASE NONCATALYTIC C-LOBE DOMAIN-CONTAINING PROTEIN 1; KNDC1", "OMIM:616238": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 49; ZBTB49", "OMIM:616240": "OLIGODENDROCYTE MATURATION-ASSOCIATED LONG INTERGENIC NONCODING RNA; OLMALINC", "OMIM:616241": "METEORIN-LIKE PROTEIN; METRNL", "OMIM:616242": "TRANSMEMBRANE AND COILED-COIL DOMAIN FAMILY, MEMBER 1; TMCC1", "OMIM:616243": "TRANSMEMBRANE PROTEIN 131-LIKE; TMEM131L", "OMIM:616244": "COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 2; CHCHD2", "OMIM:616245": "ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 4; EMC4", "OMIM:616246": "MYOREGULIN; MRLN", "OMIM:616250": "NACHT DOMAIN- AND WD REPEAT-CONTAINING PROTEIN 1; NWD1", "OMIM:616251": "TRPM8 CHANNEL-ASSOCIATED FACTOR 1; TCAF1", "OMIM:616252": "TRPM8 CHANNEL-ASSOCIATED FACTOR 2; TCAF2", "OMIM:616253": "GS HOMEOBOX 2; GSX2", "OMIM:616254": "CASEINOLYTIC PEPTIDASE B; CLPB", "OMIM:616256": "C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER G; CLEC4G", "OMIM:616257": "FK506-BINDING PROTEIN 9; FKBP9", "OMIM:616259": "SMALL NUCLEOLAR RNA HOST GENE 14; SNHG14", "OMIM:616261": "PSEUDOURIDYLATE SYNTHASE 7, PUTATIVE; PUS7", "OMIM:616262": "KELCH-LIKE 21; KLHL21", "OMIM:616264": "MAF TRANSCRIPTIONAL REGULATOR RNA, NONCODING; MAFTRR", "OMIM:616272": "MICRO RNA 520G; MIR520G", "OMIM:616273": "PROSTATE CANCER-ASSOCIATED TRANSCRIPT 29, NONCODING; PCAT29", "OMIM:616274": "MICRO RNA 4276; MIR4276", "OMIM:616275": "FAMILY WITH SEQUENCE SIMILARITY 136, MEMBER A; FAM136A", "OMIM:616283": "PSEUDOURIDYLATE SYNTHASE 3; PUS3", "OMIM:616284": "FILAGGRIN FAMILY MEMBER 2; FLG2", "OMIM:616285": "FORMIN-LIKE 2; FMNL2", "OMIM:616288": "FORMIN-LIKE 3; FMNL3", "OMIM:616290": "ZINC FINGER PROTEIN 658; ZNF658", "OMIM:616292": "STABILIZER OF AXONEMAL MICROTUBULES 1; SAXO1", "OMIM:616293": "HORNERIN; HRNR", "OMIM:616296": "MULTIPLE C2 DOMAINS-CONTAINING TRANSMEMBRANE PROTEIN 1; MCTP1", "OMIM:616297": "MULTIPLE C2 DOMAINS-CONTAINING TRANSMEMBRANE PROTEIN 2; MCTP2", "OMIM:616301": "CD300 ANTIGEN-LIKE FAMILY, MEMBER D; CD300LD", "OMIM:616302": "FORKHEAD BOX K1; FOXK1", "OMIM:616303": "WD REPEAT-CONTAINING PROTEIN 91; WDR91", "OMIM:616305": "FERM DOMAIN-CONTAINING PROTEIN 4A; FRMD4A", "OMIM:616306": "FIBRINOGEN SILENCER-BINDING PROTEIN; FSBP", "OMIM:616308": "BETA-GLOBIN LOCUS TRANSCRIPT 3, NONCODING; BGLT3", "OMIM:616309": "FERM DOMAIN-CONTAINING PROTEIN 5; FRMD5", "OMIM:616310": "RHO GTPase-ACTIVATING PROTEIN 11B; ARHGAP11B", "OMIM:616312": "LEM DOMAIN-CONTAINING PROTEIN 2; LEMD2", "OMIM:616315": "PAXX NONHOMOLOGOUS END JOINING FACTOR; PAXX", "OMIM:616316": "FAMILY WITH SEQUENCE SIMILARITY 168, MEMBER A; FAM168A", "OMIM:616317": "GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 1; GDPD1", "OMIM:616318": "GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 3; GDPD3", "OMIM:616319": "RING FINGER PROTEIN 138; RNF138", "OMIM:616320": "FUMARYLACETOACETATE HYDROLASE DOMAIN-CONTAINING PROTEIN 1; FAHD1", "OMIM:616327": "CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1", "OMIM:616328": "LONG INTERGENIC NONCODING RNA PINKY", "OMIM:616332": "ACIDIC RESIDUE METHYLTRANSFERASE 1; ARMT1", "OMIM:616333": "WNT SIGNALING PATHWAY ACTIVATING NONCODING RNA; WSPAR", "OMIM:616334": "TRANSMEMBRANE PROTEIN 100; TMEM100", "OMIM:616336": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER B15; AKR1B15", "OMIM:616337": "SUPPRESSOR OF CYTOKINE SIGNALING 4; SOCS4", "OMIM:616338": "SOX2 OVERLAPPING TRANSCRIPT, NONCODING; SOX2OT", "OMIM:616343": "TUMOR PROTEIN p53 PATHWAY COREPRESSOR 1, NONCODING; TP53COR1", "OMIM:616344": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 23-LIKE; TTC23L", "OMIM:616347": "PR DOMAIN-CONTAINING PROTEIN 11; PRDM11", "OMIM:616348": "ZINC FINGER PROTEIN 695; ZNF695", "OMIM:616349": "SORBIN AND SH3 DOMAINS-CONTAINING PROTEIN 2; SORBS2", "OMIM:616350": "PROMOTER OF MAT2A ANTISENSE RADIATION-INDUCED CIRCULATING LONG NONCODING RNA; PARTICL", "OMIM:616352": "ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 6; ACBD6", "OMIM:616356": "MICRO RNA 31 HOST GENE, NONCODING; MIR31HG", "OMIM:616358": "MICRO RNA 379; MIR379", "OMIM:616359": "COENZYME Q5, METHYLTRANSFERASE; COQ5", "OMIM:616360": "TRANSMEMBRANE PROTEIN 135; TMEM135", "OMIM:616363": "SMALL PROLINE-RICH PROTEIN 4; SPRR4", "OMIM:616365": "SCY1-LIKE PROTEIN 2; SCYL2", "OMIM:616372": "DDB1- AND CUL4-ASSOCIATED FACTOR 4; DCAF4", "OMIM:616374": "BEN DOMAIN-CONTAINING PROTEIN 3; BEND3", "OMIM:616375": "UNKEMPT FAMILY ZINC FINGER PROTEIN; UNK", "OMIM:616376": "MICRO RNA 656; MIR656", "OMIM:616377": "PROLINE DEHYDROGENASE (OXIDASE) 2; PRODH2", "OMIM:616378": "UBX DOMAIN PROTEIN 1; UBXN1", "OMIM:616379": "UBX DOMAIN PROTEIN 7; UBXN7", "OMIM:616380": "LAMININ, BETA-4; LAMB4", "OMIM:616381": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 8; ZCCHC8", "OMIM:616382": "UDP GLUCURONOSYLTRANSFERASE FAMILY 2, MEMBER A3; UGT2A3", "OMIM:616383": "URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A1; UGT3A1", "OMIM:616384": "URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A2; UGT3A2", "OMIM:616385": "LONG INTERGENIC NONCODING RNA 1018; LINC01018", "OMIM:616386": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 17; KCTD17", "OMIM:616387": "DOWNREGULATED RNA IN ANDROGEN-INDEPENDENT CELLS, NONCODING; DRAIC", "OMIM:616388": "UBIQUITIN DOMAIN-CONTAINING PROTEIN 1; UBTD1", "OMIM:616391": "RAN-BINDING PROTEIN 3-LIKE; RANBP3L", "OMIM:616392": "SKINT1-LIKE PSEUDOGENE; SKINTL", "OMIM:616396": "SCM POLYCOMB GROUP PROTEIN HOMOLOG 1; SCMH1", "OMIM:616397": "PEROXISOMAL MEMBRANE PROTEIN 4; PXMP4", "OMIM:616401": "SPINDLE APPARATUS COILED-COIL PROTEIN 1; SPDL1", "OMIM:616403": "TP53 TARGET GENE 1; TP53TG1", "OMIM:616404": "POLYMERASE I, RNA, SUBUNIT A; POLR1A", "OMIM:616405": "ADAPTOR PROTEIN 2-ASSOCIATED KINASE 1; AAK1", "OMIM:616406": "PYRROLINE-5-CARBOXYLATE REDUCTASE 2; PYCR2", "OMIM:616408": "PYRROLINE-5-CARBOXYLATE REDUCTASE-LIKE; PYCRL", "OMIM:616412": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 5; TXNDC5", "OMIM:616416": "ADHESION G PROTEIN-COUPLED RECEPTOR L1; ADGRL1", "OMIM:616417": "ADHESION G PROTEIN-COUPLED RECEPTOR L3; ADGRL3", "OMIM:616419": "ADHESION G PROTEIN-COUPLED RECEPTOR L4; ADGRL4", "OMIM:616422": "TRANSCRIPTION ELONGATION FACTOR, MITOCHONDRIAL; TEFM", "OMIM:616423": "DExH-BOX HELICASE 30; DHX30", "OMIM:616424": "SET DOMAIN-CONTAINING PROTEIN 6; SETD6", "OMIM:616426": "CENTROSOMAL PROTEIN, 192-KD; CEP192", "OMIM:616427": "A-KINASE ANCHOR INHIBITOR 1; AKAIN1", "OMIM:616429": "SUSHI DOMAIN-CONTAINING PROTEIN 3; SUSD3", "OMIM:616431": "GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE 2, MITOCHONDRIAL; GPAT2", "OMIM:616432": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 18; ARHGEF18", "OMIM:616434": "IST1 FACTOR ASSOCIATED WITH ESCRT-III; IST1", "OMIM:616438": "TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 3; TNFAIP8L3", "OMIM:616440": "SOLUTE CARRIER FAMILY 32 (GABA VESICULAR TRANSPORTER), MEMBER 1; SLC32A1", "OMIM:616441": "OVO-LIKE 2; OVOL2", "OMIM:616442": "OVO-LIKE 3; OVOL3", "OMIM:616443": "ZINC FINGER, MYM-TYPE 5; ZMYM5", "OMIM:616444": "RNA-BINDING MOTIF PROTEIN 19; RBM19", "OMIM:616446": "LYMPHOCYTE EXPANSION MOLECULE; LEXM", "OMIM:616447": "VIR-LIKE M6A METHYLTRANSFERASE-ASSOCIATED PROTEIN; VIRMA", "OMIM:616448": "RAS-ASSOCIATED PROTEIN RAB12; RAB12", "OMIM:616450": "EF-HAND DOMAIN FAMILY, MEMBER D2; EFHD2", "OMIM:616453": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 13; ZC3H13", "OMIM:616454": "ZINC FINGER PROTEIN 408; ZNF408", "OMIM:616456": "INO80 COMPLEX, SUBUNIT B; INO80B", "OMIM:616458": "PR DOMAIN-CONTAINING PROTEIN 12; PRDM12", "OMIM:616463": "ZINC FINGER PROTEIN 232; ZNF232", "OMIM:616464": "ECDYSONELESS CELL CYCLE REGULATOR; ECD", "OMIM:616465": "VPS50, EARP/GARPII COMPLEX SUBUNIT; VPS50", "OMIM:616466": "UNC5 NETRIN RECEPTOR D; UNC5D", "OMIM:616467": "DELETED IN PRIMARY CILIARY DYSKINESIA, MOUSE, HOMOLOG OF; DPCD", "OMIM:616472": "UBIQUITIN-ASSOCIATED PROTEIN 2-LIKE; UBAP2L", "OMIM:616473": "MICRO RNA 558; MIR558", "OMIM:616474": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 26; ZSCAN26", "OMIM:616475": "CENTROSOMAL PROTEIN, 72-KD; CEP72", "OMIM:616476": "ATP/GTP-BINDING PROTEIN-LIKE 4; AGBL4", "OMIM:616477": "NUCLEAR RECEPTOR-BINDING FACTOR 2; NRBF2", "OMIM:616478": "LEUCINE-RICH REPEATS- AND GUANYLATE KINASE DOMAIN-CONTAINING PROTEIN; LRGUK", "OMIM:616480": "KIAA1328 GENE; KIAA1328", "OMIM:616484": "TAX1-BINDING PROTEIN 3; TAX1BP3", "OMIM:616485": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 21; ZBTB21", "OMIM:616492": "EWING SARCOMA-ASSOCIATED TRANSCRIPT 1, NONCODING; EWSAT1", "OMIM:616493": "TRANSCRIPTION ACTIVATION REPRESSOR; TASOR", "OMIM:616495": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 6-INTERACTING PROTEIN 6; ARL6IP6", "OMIM:616496": "NUCLEAR ENVELOPE INTEGRAL MEMBRANE PROTEIN 1; NEMP1", "OMIM:616497": "NUCLEAR ENVELOPE INTEGRAL MEMBRANE PROTEIN 2; NEMP2", "OMIM:616498": "RETICULOPHAGY REGULATOR 3; RETREG3", "OMIM:616499": "TRANSMEMBRANE PROTEIN 203; TMEM203", "OMIM:616504": "METHYLTRANSFERASE 14, N6-ADENOSINE-METHYLTRANSFERASE SUBUNIT; METTL14", "OMIM:616506": "NEURON-DERIVED NEUROTROPHIC FACTOR; NDNF", "OMIM:616508": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 11; SLC39A11", "OMIM:616510": "GLUCOSAMINE-PHOSPHATE N-ACETYLTRANSFERASE 1; GNPNAT1", "OMIM:616512": "RING FINGER PROTEIN 152; RNF152", "OMIM:616513": "La RIBONUCLEOPROTEIN 4B; LARP4B", "OMIM:616514": "FAMILY WITH SEQUENCE SIMILARITY 195, MEMBER B; FAM195B", "OMIM:616518": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 6; SLC38A6", "OMIM:616519": "PHOSPHODIESTERASE 12; PDE12", "OMIM:616520": "ADENOSYLHOMOCYSTEINASE-LIKE 2; AHCYL2", "OMIM:616522": "DCN1 DOMAIN-CONTAINING PROTEIN 5; DCUN1D5", "OMIM:616523": "MICROFIBRILLAR-ASSOCIATED PROTEIN 3-LIKE; MFAP3L", "OMIM:616524": "TRANSMEMBRANE PROTEIN 139; TMEM139", "OMIM:616525": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 10; SLC38A10", "OMIM:616526": "SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 11; SLC38A11", "OMIM:616527": "SWI5-DEPENDENT HOMOLOGOUS RECOMBINATION REPAIR PROTEIN 1; SFR1", "OMIM:616528": "SWI5 HOMOLOGOUS RECOMBINATION REPAIR PROTEIN; SWI5", "OMIM:616529": "YTH N6-METHYLADENOSINE RNA-BINDING PROTEIN 1; YTHDF1", "OMIM:616530": "YTH DOMAIN-CONTAINING PROTEIN 2; YTHDC2", "OMIM:616533": "DEAD-BOX HELICASE 31; DDX31", "OMIM:616536": "CYSTATIN 9-LIKE; CST9L", "OMIM:616537": "V-SET AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 2-LIKE; VSTM2L", "OMIM:616542": "GS HOMEOBOX 1; GSX1", "OMIM:616543": "CYSTATIN 9; CST9", "OMIM:616545": "PRELI DOMAIN-CONTAINING PROTEIN 3A; PRELID3A", "OMIM:616547": "LYSOZYME G2; LYG2", "OMIM:616548": "LYSOPHOSPHOLIPASE-LIKE 1; LYPLAL1", "OMIM:616550": "TRANSMEMBRANE PROTEIN 120A; TMEM120A", "OMIM:616551": "TRANSMEMBRANE PROTEIN 120B; TMEM120B", "OMIM:616552": "CARNOSINE N-METHYLTRANSFERASE 1; CARNMT1", "OMIM:616554": "SPERM-ASSOCIATED ANTIGEN 17; SPAG17", "OMIM:616555": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A; LRRC37A", "OMIM:616556": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A2; LRRC37A2", "OMIM:616557": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A3; LRRC37A3", "OMIM:616558": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37B; LRRC37B", "OMIM:616560": "CD300H ANTIGEN; CD300H", "OMIM:616561": "RAS PROTEIN ACTIVATOR-LIKE 3; RASAL3", "OMIM:616563": "STE20-LIKE PROTEIN KINASE; SLK", "OMIM:616565": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 30B; ANKRD30B", "OMIM:616567": "DEATH-ASSOCIATED PROTEIN KINASE 2; DAPK2", "OMIM:616569": "CYSTEINE SULFINIC ACID DECARBOXYLASE; CSAD", "OMIM:616571": "C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER A; CLEC18A", "OMIM:616572": "C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER B; CLEC18B", "OMIM:616573": "C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER C; CLEC18C", "OMIM:616574": "MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 10-KD SUBUNIT; MICOS10", "OMIM:616575": "LEUKOCYTE RECEPTOR CLUSTER GENE 8; LENG8", "OMIM:616578": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 1; ZBTB1", "OMIM:616581": "LYSINE DEMETHYLASE 4E; KDM4E", "OMIM:616582": "LIPOLYSIS-STIMULATED LIPOPROTEIN RECEPTOR; LSR", "OMIM:616584": "SPERMATOGENESIS-ASSOCIATED PROTEIN 31, SUBFAMILY A, MEMBER 7; SPATA31A7", "OMIM:616585": "RING FINGER- AND SPRY DOMAIN-CONTAINING PROTEIN 1; RSPRY1", "OMIM:616587": "FAMILY WITH SEQUENCE SIMILARITY 118, MEMBER B; FAM118B", "OMIM:616588": "DIHYDROFOLATE REDUCTASE-LIKE 1; DHFRL1", "OMIM:616590": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 5; ZBTB5", "OMIM:616591": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7C; ZBTB7C", "OMIM:616593": "C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 12; C1QTNF12", "OMIM:616594": "ARF GTPase-ACTIVATING PROTEIN WITH SH3 DOMAIN, ANKYRIN REPEAT, AND PH DOMAIN 3; ASAP3", "OMIM:616595": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 2; ZBTB2", "OMIM:616596": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 8B; ARL8B", "OMIM:616597": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 8A; ARL8A", "OMIM:616598": "BLOC1-RELATED COMPLEX, SUBUNIT 5; BORCS5", "OMIM:616599": "BLOC1-RELATED COMPLEX, SUBUNIT 6; BORCS6", "OMIM:616600": "BLOC1-RELATED COMPLEX, SUBUNIT 7; BORCS7", "OMIM:616601": "BLOC1-RELATED COMPLEX, SUBUNIT 8; BORCS8", "OMIM:616605": "GSK3B-INTERACTING PROTEIN; GSKIP", "OMIM:616607": "KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 8; KBTBD8", "OMIM:616608": "MACROPHAGE IMMUNOMETABOLISM REGULATOR; MACIR", "OMIM:616609": "TRANSMEMBRANE PROTEIN 65; TMEM65", "OMIM:616610": "CANCER SUSCEPTIBILITY CANDIDATE 15, NONCODING; CASC15", "OMIM:616611": "LONG INTERGENIC NONCODING RNA 461; LINC00461", "OMIM:616612": "COLLAGEN, TYPE VI, ALPHA-4, PSEUDOGENE 2; COL6A4P2", "OMIM:616613": "COLLAGEN, TYPE VI, ALPHA-6; COL6A6", "OMIM:616614": "HISTONE PARYLATION FACTOR 1; HPF1", "OMIM:616615": "CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1; CSGALNACT1", "OMIM:616616": "CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 2; CSGALNACT2", "OMIM:616618": "ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 5; ACBD5", "OMIM:616619": "DPPA2 UPSTREAM-BINDING RNA, NONCODING; DUBR", "OMIM:616620": "WD REPEAT-CONTAINING PROTEIN 12; WDR12", "OMIM:616621": "DEAD-BOX HELICASE 27; DDX27", "OMIM:616623": "FAMILY WITH SEQUENCE SIMILARITY 30, MEMBER A; FAM30A", "OMIM:616624": "NUCLEAR CAP-BINDING PROTEIN 3; NCBP3", "OMIM:616626": "CEREBRAL ENDOTHELIAL CELL ADHESION MOLECULE; CERCAM", "OMIM:616627": "PODOCALYXIN-LIKE 2; PODXL2", "OMIM:616628": "FAMILY WITH SEQUENCE SIMILARITY 220, MEMBER A; FAM220A", "OMIM:616630": "NEURENSIN 1; NRSN1", "OMIM:616633": "PROLINE-RICH PROTEIN 12; PRR12", "OMIM:616634": "SUSHI, NIDOGEN, AND EGF-LIKE DOMAINS PROTEIN 1; SNED1", "OMIM:616635": "CYSTEINE- AND HISTIDINE-RICH PROTEIN 1; CYHR1", "OMIM:616637": "TBC1 DOMAIN FAMILY, MEMBER 16; TBC1D16", "OMIM:616639": "PR DOMAIN-CONTAINING PROTEIN 8; PRDM8", "OMIM:616641": "RING FINGER PROTEIN 141; RNF141", "OMIM:616642": "CHROMOSOME 6 OPEN READING FRAME 89; C6ORF89", "OMIM:616643": "HEPATOMA-DERIVED GROWTH FACTOR-RELATED PROTEIN 3", "OMIM:616644": "CUB AND ZONA PELLUCIDA-LIKE DOMAINS 1; CUZD1", "OMIM:616646": "KERATIN 25, TYPE I; KRT25", "OMIM:616650": "KATANIN-INTERACTING PROTEIN; KATNIP", "OMIM:616653": "PNN-INTERACTING SERINE/ARGININE-RICH PROTEIN; PNISR", "OMIM:616655": "SIPA1-LIKE PROTEIN 3; SIPA1L3", "OMIM:616656": "COMM DOMAIN-CONTAINING PROTEIN 8; COMMD8", "OMIM:616658": "MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 13-KD SUBUNIT; MICOS13", "OMIM:616659": "TBC1 DOMAIN FAMILY, MEMBER 17; TBC1D17", "OMIM:616660": "TRANSMEMBRANE PROTEIN 175: TMEM175", "OMIM:616661": "MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 2; MORC2", "OMIM:616662": "THUMP DOMAIN-CONTAINING PROTEIN 1; THUMPD1", "OMIM:616663": "SMALL NUCLEOLAR RNA, C/D BOX, 118; SNORD118", "OMIM:616664": "SMALL NUCLEOLAR RNA, C/D BOX, 13; SNORD13", "OMIM:616665": "SYNAPTOPHYSIN-LIKE 1; SYPL1", "OMIM:616666": "SEIZURE-RELATED 6, MOUSE, HOMOLOG OF; SEZ6", "OMIM:616667": "SEZ6-LIKE PROTEIN 2; SEZ6L2", "OMIM:616670": "EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 1; ESYT1", "OMIM:616671": "KERATIN 76, TYPE II; KRT76", "OMIM:616673": "SPINDLE- AND KINETOCHORE-ASSOCIATED COMPLEX, SUBUNIT 1; SKA1", "OMIM:616674": "SPINDLE- AND KINETOCHORE-ASSOCIATED COMPLEX, SUBUNIT 2; SKA2", "OMIM:616675": "KERATIN 26, TYPE I; KRT26", "OMIM:616676": "KERATIN 27, TYPE I; KRT27", "OMIM:616677": "KERATIN 28, TYPE I; KRT28", "OMIM:616678": "KERATIN 39, TYPE I; KRT39", "OMIM:616679": "KERATIN 40, TYPE I; KRT40", "OMIM:616686": "SYNAPTOTAGMIN-BINDING CYTOPLASMIC RNA-INTERACTING PROTEIN; SYNCRIP", "OMIM:616690": "CENTROSOMAL PROTEIN, 104-KD; CEP104", "OMIM:616691": "EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 2; ESYT2", "OMIM:616692": "EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 3; ESYT3", "OMIM:616693": "ACID-SENSING ION CHANNEL, SUBUNIT 5; ASIC5", "OMIM:616694": "ECM29 PROTEASOME ADAPTOR AND SCAFFOLD PROTEIN; ECPAS", "OMIM:616695": "SERINE/THREONINE/TYROSINE-INTERACTING PROTEIN-LIKE 1; STYXL1", "OMIM:616696": "KIAA0040 GENE; KIAA0040", "OMIM:616698": "ZINC FINGER PROTEIN 593; ZNF593", "OMIM:616699": "COMM DOMAIN-CONTAINING PROTEIN 2; COMMD2", "OMIM:616700": "COMM DOMAIN-CONTAINING PROTEIN 3; COMMD3", "OMIM:616701": "COMM DOMAIN-CONTAINING PROTEIN 4; COMMD4", "OMIM:616702": "ZINC FINGER PROTEIN 589; ZNF589", "OMIM:616703": "COMM DOMAIN-CONTAINING PROTEIN 7; COMMD7", "OMIM:616704": "COMM DOMAIN-CONTAINING PROTEIN 10; COMMD10", "OMIM:616706": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 11; PARP11", "OMIM:616709": "ALPHA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE; A4GNT", "OMIM:616711": "TAO KINASE 3; TAOK3", "OMIM:616712": "START DOMAIN-CONTAINING PROTEIN 7; STARD7", "OMIM:616713": "PIPECOLIC ACID OXIDASE; PIPOX", "OMIM:616714": "HMG-BOX TRANSCRIPTION FACTOR 1; HBP1", "OMIM:616715": "THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 2; TMX2", "OMIM:616717": "TESTIS-EXPRESSED GENE 10; TEX10", "OMIM:616718": "NEURITE OUTGROWTH-ASSOCIATED PROTEIN; NGRN", "OMIM:616725": "DExD/H-BOX HELICASE 60-LIKE PROTEIN; DDX60L", "OMIM:616727": "PHD FINGER PROTEIN 21B; PHF21B", "OMIM:616729": "OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY W, MEMBER 3; OR2W3", "OMIM:616731": "NIMA-RELATED KINASE 5; NEK5", "OMIM:616735": "COILED-COIL DOMAIN-CONTAINING PROTEIN 174: CCDC174", "OMIM:616741": "PR DOMAIN-CONTAINING PROTEIN 13; PRDM13", "OMIM:616742": "NOP58 RIBONUCLEOPROTEIN; NOP58", "OMIM:616743": "RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 3; RGL3", "OMIM:616745": "BIORIENTATION OF CHROMOSOMES IN CELL DIVISION 1; BOD1", "OMIM:616746": "BOD1-LIKE PROTEIN 1; BOD1L1", "OMIM:616747": "CHOLINE PHOSPHOTRANSFERASE 1; CHPT1", "OMIM:616748": "ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 8; ENTPD8", "OMIM:616750": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 16; ZDHHC16", "OMIM:616751": "CHOLINE/ETHANOLAMINE PHOSPHOTRANSFERASE 1; CEPT1", "OMIM:616752": "NEURONAL VESICLE TRAFFICKING-ASSOCIATED PROTEIN 2; NSG2", "OMIM:616753": "ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 7; ENTPD7", "OMIM:616754": "BOMBAY PHENOTYPE", "OMIM:616755": "TRIPARTITE MOTIF-CONTAINING PROTEIN 62; TRIM62", "OMIM:616757": "TRANSMEMBRANE PROTEIN 150A; TMEM150A", "OMIM:616758": "KERATINOCYTE DIFFERENTIATION FACTOR 1; KDF1", "OMIM:616759": "NITRIC OXIDE SYNTHASE-INTERACTING PROTEIN; NOSIP", "OMIM:616761": "SUSHI DOMAIN-CONTAINING PROTEIN 6; SUSD6", "OMIM:616762": "CENTRIOLE-, CILIA-, AND SPINDLE-ASSOCIATED PROTEIN; CCSAP", "OMIM:616764": "SOLUTE CARRIER FAMILY 46, MEMBER 3; SLC46A3", "OMIM:616765": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 11; SAMD11", "OMIM:616766": "THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 4; TMX4", "OMIM:616767": "CALPAIN, SMALL SUBUNIT 2; CAPNS2", "OMIM:616768": "TUBULIN, BETA-8; TUBB8", "OMIM:616769": "NITRILASE FAMILY MEMBER 2; NIT2", "OMIM:616770": "MICRO RNA 218-1; MIR218-1", "OMIM:616771": "MICRO RNA 218-2; MIR218-2", "OMIM:616772": "MANNOSIDASE, ALPHA, CLASS 1C, MEMBER 1; MAN1C1", "OMIM:616773": "MITOGUARDIN 1; MIGA1", "OMIM:616774": "MITOGUARDIN 2; MIGA2", "OMIM:616775": "ZINC FINGER PROTEIN 683; ZNF683", "OMIM:616776": "DUAL-SPECIFICITY PHOSPHATASE 15; DUSP15", "OMIM:616778": "DUAL-SPECIFICITY PHOSPHATASE 22; DUSP22", "OMIM:616782": "GLUCOSAMINYL (N-ACETYL) TRANSFERASE 4; GCNT4", "OMIM:616783": "UBX DOMAIN PROTEIN 10; UBXN10", "OMIM:616785": "PUTATIVE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PHTF2", "OMIM:616786": "MITOGEN-ACTIVATED PROTEIN KINASE-BINDING PROTEIN 1; MAPKBP1", "OMIM:616787": "CLUSTERIN-ASSOCIATED PROTEIN 1; CLUAP1", "OMIM:616790": "PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 4; PPP4R4", "OMIM:616791": "PIGGYBAC TRANSPOSABLE ELEMENT-DERIVED GENE 5; PGBD5", "OMIM:616792": "NEUROBLASTOMA, SUSCEPTIBILITY TO, 7; NBLST7", "OMIM:616793": "PHOSPHOLIPASE A2, GROUP IIF; PLA2G2F", "OMIM:616796": "RETINOL DEHYDROGENASE 14; RDH14", "OMIM:616797": "EFR3 HOMOLOG B; EFR3B", "OMIM:616798": "ZINC FINGER PROTEIN 28; ZFP28", "OMIM:616799": "SYNAPTONEMAL COMPLEX PROTEIN 2-LIKE; SYCP2L", "OMIM:616800": "LOXL1 ANTISENSE RNA 1, NONCODING; LOXL1AS1", "OMIM:616802": "T CELL-INTERACTING ACTIVATING RECEPTOR ON MYELOID CELLS 1; TARM1", "OMIM:616804": "V-SET AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 1; VSTM1", "OMIM:616805": "MYC TARGET IN MYELOID CELLS 1; MYCT1", "OMIM:616807": "FAS-BINDING FACTOR 1; FBF1", "OMIM:616808": "SHIFTLESS ANTIVIRAL INHIBITOR OF RIBOSOMAL FRAMESHIFTING; SHFL", "OMIM:616810": "IMMUNOGLOBULIN SUPERFAMILY, DCC SUBCLASS, MEMBER 4; IGDCC4", "OMIM:616813": "ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 3; AGAP3", "OMIM:616815": "VACUOLAR ATPase ASSEMBLY FACTOR VMA12; VMA12", "OMIM:616820": "METHENYLTETRAHYDROFOLATE SYNTHETASE DOMAIN-CONTAINING PROTEIN; MTHFSD", "OMIM:616821": "THROMBOSPONDIN TYPE 1 DOMAIN-CONTAINING PROTEIN 1; THSD1", "OMIM:616822": "MON2, REGULATOR OF ENDOSOME-TO-GOLGI TRAFFICKING; MON2", "OMIM:616823": "DOP1 LEUCINE ZIPPER-LIKE PROTEIN A; DOP1A", "OMIM:616824": "TMF1-REGULATED NUCLEAR PROTEIN 1; TRNP1", "OMIM:616825": "NUCLEAR RECEPTOR COACTIVATOR 5; NCOA5", "OMIM:616826": "EPS15-LIKE PROTEIN 1; EPS15L1", "OMIM:616830": "TRANSPORT AND GOLGI ORGANIZATION 2 HOMOLOG; TANGO2", "OMIM:616832": "MYOMESIN 3; MYOM3", "OMIM:616836": "G-PATCH DOMAIN-CONTAINING PROTEIN 2; GPATCH2", "OMIM:616837": "HUMAN PLURIPOTENCY-ASSOCIATED TRANSCRIPT 5, NONCODING", "OMIM:616838": "C-TYPE LECTIN DOMAIN FAMILY 17, MEMBER A; CLEC17A", "OMIM:616841": "ZINC FINGER PROTEIN 468; ZNF468", "OMIM:616842": "DNase1 HYPERSENSITIVITY, CHROMOSOME 6, SITE 1; DHS6S1", "OMIM:616844": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 17; DNAJC17", "OMIM:616845": "C-TYPE LECTIN DOMAIN FAMILY 14, MEMBER A; CLEC14A", "OMIM:616846": "ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 1; EMC1", "OMIM:616847": "ZINC FINGER PROTEIN 543; ZNF543", "OMIM:616848": "MIER1 TRANSCRIPTIONAL REGULATOR; MIER1", "OMIM:616850": "WD REPEAT-CONTAINING PROTEIN 83; WDR83", "OMIM:616853": "FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER C: FAM72C", "OMIM:616855": "CYTOCHROME c OXIDASE, SUBUNIT 8C; COX8C", "OMIM:616856": "BROMODOMAIN- AND PHD FINGER-CONTAINING PROTEIN 3; BRPF3", "OMIM:616857": "CHLORIDE CHANNEL ACCESSORY 4; CLCA4", "OMIM:616861": "SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 9; SLC12A9", "OMIM:616862": "RIBOSOMAL PROTEIN L34; RPL34", "OMIM:616864": "HEXOSAMINIDASE D; HEXD", "OMIM:616865": "POLY(A) POLYMERASE, GAMMA; PAPOLG", "OMIM:616869": "C-TERMINAL DOMAIN NUCLEAR ENVELOPE PHOSPHATASE 1 REGULATORY SUBUNIT 1; CNEP1R1", "OMIM:616870": "TRANSMEMBRANE PROTEIN 14A; TMEM14A", "OMIM:616872": "TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 3; TM9SF3", "OMIM:616874": "TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 4; TMBIM4", "OMIM:616876": "TRANSMEMBRANE p24 TRAFFICKING PROTEIN 5; TMED5", "OMIM:616877": "TRANSMEMBRANE PROTEIN 9; TMEM9", "OMIM:616879": "TBC1 DOMAIN FAMILY, MEMBER 22A; TBC1D22A", "OMIM:616880": "TBC1 DOMAIN FAMILY, MEMBER 22B; TBC1D22B", "OMIM:616883": "SRP RECEPTOR SUBUNIT, BETA; SRPRB", "OMIM:616884": "UNC79 HOMOLOG, NALCN CHANNEL COMPLEX SUBUNIT; UNC79", "OMIM:616885": "CALCIUM-REGULATED HEAT-STABLE PROTEIN 1; CARHSP1", "OMIM:616886": "GSE1 COILED-COIL PROTEIN; GSE1", "OMIM:616888": "TRANSMEMBRANE PROTEIN 8B; TMEM8B", "OMIM:616889": "CENTROSOMAL PROTEIN, 68-KD; CEP68", "OMIM:616891": "SMALL TRANSMEMBRANE REGULATOR OF ION TRANSPORT 1; STRIT1", "OMIM:616895": "SURVIVAL-ASSOCIATED MITOCHONDRIAL MELANOMA-SPECIFIC ONCOGENIC NONCODING RNA; SAMMSON", "OMIM:616899": "TBC1 DOMAIN-CONTAINING KINASE; TBCK", "OMIM:616903": "THIOPURINES, POOR METABOLISM OF, 2; THPM2", "OMIM:616904": "DEDICATOR OF CYTOKINESIS 5; DOCK5", "OMIM:616905": "MORF4 FAMILY-ASSOCIATED PROTEIN 1; MRFAP1", "OMIM:616906": "CANCER SUSCEPTIBILITY CANDIDATE 1; CASC1", "OMIM:616908": "PATCHED DOMAIN-CONTAINING PROTEIN 4; PTCHD4", "OMIM:616909": "COILED-COIL DOMAIN-CONTAINING PROTEIN 68; CCDC68", "OMIM:616912": "ENAH/VASP-LIKE PROTEIN; EVL", "OMIM:616915": "REMOVED FROM DATABASE", "OMIM:616916": "SMALL ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 2; SMAP2", "OMIM:616918": "PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS G PROTEIN; PIGG", "OMIM:616919": "FERM AND PDZ DOMAINS-CONTAINING PROTEIN 1; FRMPD1", "OMIM:616923": "RING FINGER PROTEIN 207; RNF207", "OMIM:616925": "DDHRS4 ANTISENSE RNA 1, NONCODING; DHRS4AS1", "OMIM:616926": "FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 4; FXYD4", "OMIM:616927": "EXOCYST COMPLEX COMPONENT 3-LIKE 2; EXOC3L2", "OMIM:616928": "TRANSMEMBRANE PROTEIN 45A; TMEM45A", "OMIM:616929": "TRANSCRIPTION TERMINATION FACTOR 2, MITOCHONDRIAL; MTERF2", "OMIM:616930": "TRANSCRIPTION TERMINATION FACTOR 3, MITOCHONDRIAL; MTERF3", "OMIM:616931": "FUCOSYLTRANSFERASE 10; FUT10", "OMIM:616932": "FUCOSYLTRANSFERASE 11; FUT11", "OMIM:616933": "FORTY-TWO-THREE DOMAIN-CONTAINING PROTEIN 1; FYTTD1", "OMIM:616934": "MEIOSIS-SPECIFIC PROTEIN WITH COILED-COIL DOMAIN; MEIOC", "OMIM:616935": "FAS-ASSOCIATED FACTOR FAMILY, MEMBER 2; FAF2", "OMIM:616936": "CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 9; CHD9", "OMIM:616940": "EXONUCLEASE 3-PRIME-TO-5-PRIME DOMAIN-CONTAINING PROTEIN 2; EXD2", "OMIM:616942": "PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 5; PDIA5", "OMIM:616945": "CLAVESIN 2; CLVS2", "OMIM:616951": "MTSS I-BAR DOMAIN-CONTAINING PROTEIN 2; MTSS2", "OMIM:616952": "MITOCHONDRIAL CALCIUM UNIPORTER REGULATOR 1; MCUR1", "OMIM:616953": "CUTA DIVALENT CATION TOLERANCE HOMOLOG; CUTA", "OMIM:616955": "RRAD- AND GEM-LIKE GTPase 2; REM2", "OMIM:616956": "TUBULIN POLYMERIZATION-PROMOTING PROTEIN FAMILY, MEMBER 2; TPPP2", "OMIM:616957": "TUBULIN POLYMERIZATION-PROMOTING PROTEIN FAMILY, MEMBER 3; TPPP3", "OMIM:616960": "GTPase, IMAP FAMILY, MEMBER 6; GIMAP6", "OMIM:616961": "GTPase, IMAP FAMILY, MEMBER 7; GIMAP7", "OMIM:616962": "GTPase, IMAP FAMILY, MEMBER 8; GIMAP8", "OMIM:616965": "ADHESION G PROTEIN-COUPLED RECEPTOR G5; ADGRG5", "OMIM:616966": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 6, ACYLGLYCEROL LIPASE; ABHD6", "OMIM:616967": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 17; TXNDC17", "OMIM:616970": "MARVEL DOMAIN-CONTAINING PROTEIN 1; MARVELD1", "OMIM:616971": "ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 3; ERGIC3", "OMIM:616972": "MICRO RNA 490; MIR490", "OMIM:616976": "TRIPARTITE MOTIF-CONTAINING PROTEIN 40; TRIM40", "OMIM:616978": "COILED COIL-HELIX-COILED COIL-HELIX DOMAIN-CONTAINING PROTEIN 5; CHCHD5", "OMIM:616979": "DEATH DOMAIN-CONTAINING PROTEIN 1; DTHD1", "OMIM:616980": "CELL CYCLE REGULATOR OF NONHOMOLOGOUS END JOINING; CYREN", "OMIM:616982": "PR DOMAIN-CONTAINING PROTEIN 6; PRDM6", "OMIM:616983": "ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 6; ENPP6", "OMIM:616984": "NEUROPEPTIDE VF PRECURSOR; NPVF", "OMIM:616985": "MTRNR2-LIKE 1; MTRNR2L1", "OMIM:616986": "LONG INTERGENIC NONCODING RNA AC011288.2", "OMIM:616987": "CHROMOSOME 6 OPEN READING FRAME 120; C6ORF120", "OMIM:616988": "CHRONIC LYMPHOCYTIC LEUKEMIA UPREGULATED GENE 1; CLLU1", "OMIM:616989": "CHRONIC LYMPHOCYTIC LEUKEMIA UPREGULATED 1, OPPOSITE STRAND; CLLU1OS", "OMIM:616990": "CLUSTERIN-LIKE PROTEIN 1; CLUL1", "OMIM:616991": "MUCIN 21, CELL SURFACE-ASSOCIATED; MUC21", "OMIM:616992": "CHROMOSOME 8 OPEN READING FRAME 17; C8ORF17", "OMIM:616993": "TRANSMEMBRANE PROTEIN 243; TMEM243", "OMIM:616994": "CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2; CFSMR2", "OMIM:616995": "CLOCK-INTERACTING PACEMAKER; CIPC", "OMIM:616996": "TRIPARTITE MOTIF-CONTAINING PROTEIN 56; TRIM56", "OMIM:616997": "ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 7; ENPP7", "OMIM:616998": "LLP HOMOLOG, LONG-TERM SYNAPTIC FACILITATION FACTOR; LLPH", "OMIM:616999": "RNA-BINDING FOX1 HOMOLOG 3; RBFOX3", "OMIM:617000": "ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 4; ENPP4", "OMIM:617001": "ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 5; ENPP5", "OMIM:617002": "BICD FAMILY-LIKE CARGO ADAPTOR 1; BICDL1", "OMIM:617003": "BICD FAMILY-LIKE CARGO ADAPTOR 2; BICDL2", "OMIM:617005": "CLAUDIN 17; CLDN17", "OMIM:617007": "TRIPARTITE MOTIF-CONTAINING PROTEIN 35; TRIM35", "OMIM:617009": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 53; ANKRD53", "OMIM:617010": "UNC51-LIKE KINASE 4; ULK4", "OMIM:617012": "POLIOVIRUS RECEPTOR-RELATED IMMUNOGLOBULIN DOMAIN-CONTAINING PROTEIN; PVRIG", "OMIM:617015": "PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 2; PLCXD2", "OMIM:617016": "PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 3; PLCXD3", "OMIM:617019": "TRANSMEMBRANE PROTEIN 230; TMEM230", "OMIM:617029": "SEMAPHORIN 4B; SEMA4B", "OMIM:617031": "PRE-mRNA-PROCESSING FACTOR 38A; PRPF38A", "OMIM:617032": "PROTEIN-GLUCOSYLGALACTOSYLHYDROXYLYSINE GLUCOSIDASE; PGGHG", "OMIM:617033": "CELLULAR ARGININE SENSOR FOR MTORC1 PROTEIN 2; CASTOR2", "OMIM:617034": "CELLULAR ARGININE SENSOR FOR MTORC1 PROTEIN 1; CASTOR1", "OMIM:617036": "ALKALINE CERAMIDASE 3; ACER3", "OMIM:617037": "NONCODING RNA ACTIVATED BY DNA DAMAGE; NORAD", "OMIM:617038": "LONG INTERGENIC NONCODING RNA 1370; LINC01370", "OMIM:617040": "MICRO RNA 1231; MIR1231", "OMIM:617042": "GASDERMIN D; GSDMD", "OMIM:617043": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 17; ARHGEF17", "OMIM:617045": "ZINC FINGER PROTEIN 703; ZNF703", "OMIM:617048": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 21; DNAJC21", "OMIM:617057": "CYTOSOLIC THIOURIDYLASE, SUBUNIT 2; CTU2", "OMIM:617058": "TSR3 RIBOSOME MATURATION FACTOR; TSR3", "OMIM:617059": "ZINC FINGER DBF DOMAIN-CONTAINING PROTEIN 2; ZDBF2", "OMIM:617060": "LACTASE-LIKE PROTEIN; LCTL", "OMIM:617064": "GTP-BINDING ELONGATION FACTOR GUF1; GUF1", "OMIM:617067": "LY6/PLAUR DOMAIN-CONTAINING PROTEIN 8; LYPD8", "OMIM:617071": "LONG NONCODING RNA 13", "OMIM:617074": "SMITH-MAGENIS SYNDROME CHROMOSOME REGION, CANDIDATE GENE 8; SMCR8", "OMIM:617076": "FK506-BINDING PROTEIN-LIKE; FKBPL", "OMIM:617077": "ZINC FINGER PROTEIN 618; ZNF618", "OMIM:617078": "DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN 2; DEDD2", "OMIM:617079": "LONG INTERGENIC NONCODING RNA 673; LINC00673", "OMIM:617081": "OMA1 ZINC METALLOPEPTIDASE; OMA1", "OMIM:617083": "DYNEIN, CYTOPLASMIC 2, LIGHT INTERMEDIATE CHAIN 1; DYNC2LI1", "OMIM:617084": "TRANSMEMBRANE PROTEIN 59; TMEM59", "OMIM:617085": "FIN BUD INITIATION FACTOR, ZEBRAFISH, HOMOLOG OF; FIBIN", "OMIM:617089": "NUCLEOLUS AND NEURAL PROGENITOR PROTEIN; NEPRO", "OMIM:617094": "INTRAFLAGELLAR TRANSPORT 52; IFT52", "OMIM:617095": "OUTER DYNEIN ARM DOCKING COMPLEX SUBUNIT 4; ODAD4", "OMIM:617096": "TRANSMEMBRANE PROTEIN 59-LIKE; TMEM59L", "OMIM:617097": "LONG INTERGENIC NONCODING RNA 1194; LINC01194", "OMIM:617098": "RIBONUCLEASE K; RNASEK", "OMIM:617103": "ZINC FINGER PROTEIN 668; ZNF668", "OMIM:617104": "PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, GAMMA; PIP4K2C", "OMIM:617109": "CREB3 RECRUITMENT FACTOR; CREBRF", "OMIM:617110": "CENTROSOMAL PROTEIN, 78-KD; CEP78", "OMIM:617112": "KIAA0753 GENE; KIAA0753", "OMIM:617117": "LONG INTERGENIC NONCODING RNA 663; LINC00663", "OMIM:617122": "C1QTNF9B ANTISENSE RNA 1; C1QTNF9BAS1", "OMIM:617124": "PEPTIDASE M20 DOMAIN-CONTAINING PROTEIN 1; PM20D1", "OMIM:617128": "INHIBITORY SYNAPTIC FACTOR 1; INSYN1", "OMIM:617129": "INHIBITORY SYNAPTIC FACTOR 2A; INSYN2A", "OMIM:617130": "MEMBRANE-ANCHORED JUNCTION PROTEIN; MAJIN", "OMIM:617131": "TELOMERE REPEAT-BINDING BOUQUET FORMATION PROTEIN 2; TERB2", "OMIM:617134": "TRANSMEMBRANE AND COILED-COIL DOMAINS PROTEIN 3; TMCO3", "OMIM:617135": "L3MBTL HISTONE METHYL-LYSINE-BINDING PROTEIN 4; L3MBTL4", "OMIM:617136": "TFAP2A ANTISENSE RNA 2; TFAP2AAS2", "OMIM:617138": "SKI FAMILY TRANSCRIPTIONAL COREPRESSOR 2; SKOR2", "OMIM:617139": "LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7B; LGALS7B", "OMIM:617144": "MICRO RNA 4435-2 HOST GENE, NONCODING; MIR4435-2HG", "OMIM:617147": "COILED-COIL DOMAIN-CONTAINING PROTEIN 14; CCDC14", "OMIM:617148": "DEUTEROSOME ASSEMBLY PROTEIN 1; DEUP1", "OMIM:617149": "CENTROSOMAL PROTEIN 20; CEP20", "OMIM:617150": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 3; ZDHHC3", "OMIM:617151": "SULFOTRANSFERASE FAMILY 1C, MEMBER 3; SULT1C3", "OMIM:617152": "SULFOTRANSFERASE FAMILY 6B, MEMBER 1; SULT6B1", "OMIM:617154": "MRN COMPLEX-INTERACTING PROTEIN; MRNIP", "OMIM:617155": "SUPPRESSION OF TUMORIGENICITY 18; ST18", "OMIM:617160": "PROMININ 2; PROM2", "OMIM:617161": "GSG1-LIKE PROTEIN; GSG1L", "OMIM:617163": "RING FINGER PROTEIN 186; RNF186", "OMIM:617165": "FAMILY WITH SEQUENCE SIMILARITY 213, MEMBER A; FAM213A", "OMIM:617167": "SOLUTE CARRIER FAMILY 35, MEMBER G1; SLC35G1", "OMIM:617170": "CWC27 SPLICEOSOME-ASSOCIATED CYCLOPHILIN; CWC27", "OMIM:617172": "GLUTATHIONE PEROXIDASE 8; GPX8", "OMIM:617176": "MICRO RNA 4271; MIR4271", "OMIM:617177": "MYOSIN LIGHT CHAIN 10; MYL10", "OMIM:617178": "RING FINGER PROTEIN 166; RNF166", "OMIM:617179": "PROMOTER OF CDKN1A ANTISENSE DNA DAMAGE-ACTIVATED RNA; PANDAR", "OMIM:617181": "TRANSMEMBRANE CHANNEL-LIKE PROTEIN 4; TMC4", "OMIM:617185": "NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 7; NSUN7", "OMIM:617189": "TRANSMEMBRANE PROTEIN 110; TMEM110", "OMIM:617191": "p38-INHIBITED CUTANEOUS SQUAMOUS CELL CARCINOMA-ASSOCIATED LONG INTERGENIC NONCODING RNA; PICSAR", "OMIM:617192": "ENDONUCLEASE/EXONUCLEASE/PHOSPHATASE FAMILY DOMAIN-CONTAINING PROTEIN 1; EEPD1", "OMIM:617195": "MUSCULOSKELETAL EMBRYONIC NUCLEAR PROTEIN 1; MUSTN1", "OMIM:617196": "TRANSMEMBRANE CHANNEL-LIKE PROTEIN 3; TMC3", "OMIM:617197": "TRANSMEMBRANE CHANNEL-LIKE PROTEIN 5; TMC5", "OMIM:617198": "TRANSMEMBRANE CHANNEL-LIKE PROTEIN 7; TMC7", "OMIM:617199": "NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 6; NSUN6", "OMIM:617200": "OLIGODENDROCYTIC MYELIN PARANODAL AND INNER LOOP PROTEIN; OPALIN", "OMIM:617202": "FORKHEAD BOX I2; FOXI2", "OMIM:617203": "TRANSMEMBRANE PROTEIN 87B; TMEM87B", "OMIM:617204": "VIMENTIN-TYPE INTERMEDIATE FILAMENT-ASSOCIATED COILED-COIL PROTEIN; VMAC", "OMIM:617206": "NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 3; NEURL3", "OMIM:617208": "MAM DOMAIN-CONTAINING PROTEIN 4; MAMDC4", "OMIM:617209": "GLUTAMINYL-tRNA AMIDOTRANSFERASE SUBUNIT QRSL1; QRSL1", "OMIM:617210": "GLUTAMYL-tRNA AMIDOTRANSFERASE, SUBUNIT C; GATC", "OMIM:617211": "DERMOKINE; DMKN", "OMIM:617212": "KERATINOCYTE DIFFERENTIATION-ASSOCIATED PROTEIN; KRTDAP", "OMIM:617215": "BPTF-ASSOCIATED CHROMATIN COMPLEX COMPONENT 1; BACC1", "OMIM:617216": "ZINC FINGER PROTEIN 420; ZNF420", "OMIM:617218": "TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 3; TMTC3", "OMIM:617220": "PYRIDINE NUCLEOTIDE-DISULFIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; PYROXD1", "OMIM:617221": "HEXOKINASE DOMAIN-CONTAINING PROTEIN 1; HKDC1", "OMIM:617224": "GROWTH ARREST-SPECIFIC 2-LIKE 3; GAS2L3", "OMIM:617226": "MITOGEN-ACTIVATED PROTEIN KINASE 1-INTERACTING PROTEIN 1-LIKE PROTEIN; MAPK1IP1L", "OMIM:617227": "ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3C; ATAD3C", "OMIM:617229": "FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER A; FAM53A", "OMIM:617230": "ZFP1 ZINC FINGER PROTEIN; ZFP1", "OMIM:617231": "PHOSPHOLYSINE PHOSPHOHISTIDINE INORGANIC PYROPHOSPHATE PHOSPHATASE; LHPP", "OMIM:617233": "WD REPEAT-CONTAINING PROTEIN 70; WDR70", "OMIM:617240": "HAND2 ANTISENSE RNA 1, NONCODING; HAND2AS1", "OMIM:617242": "TRANS-2,3-ENOYL-CoA REDUCTASE-LIKE PROTEIN; TECRL", "OMIM:617245": "HECT, C2, AND WW DOMAINS-CONTAINING E3 UBIQUITIN-PROTEIN LIGASE 2; HECW2", "OMIM:617246": "NSE2 (MMS21) HOMOLOG, SMC5-SMC6 COMPLEX SUMO LIGASE; NSMCE2", "OMIM:617249": "FAMILY WITH SEQUENCE SIMILARITY 122, MEMBER A; FAM122A", "OMIM:617250": "ELKS/RAB6-INTERACTING/CAST FAMILY, MEMBER 2; ERC2", "OMIM:617254": "LAMIN TAIL DOMAIN-CONTAINING PROTEIN 1; LMNTD1", "OMIM:617256": "SOLUTE CARRIER FAMILY 7, MEMBER 13; SLC7A13", "OMIM:617257": "SPERMATOGENESIS-ASSOCIATED PROTEIN 46; SPATA46", "OMIM:617259": "DDB1- AND CUL4-ASSOCIATED FACTOR 1; DCAF1", "OMIM:617261": "TRANSMEMBRANE PROTEIN 261; TMEM261", "OMIM:617262": "ATP5S-LIKE PROTEIN; ATP5SL", "OMIM:617263": "NSE1 HOMOLOG, SMC5-SMC6 COMPLEX COMPONENT; NSMCE1", "OMIM:617264": "SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 1; SCAF1", "OMIM:617265": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 9; KCTD9", "OMIM:617266": "KIAA0825 GENE; KIAA0825", "OMIM:617267": "MATRIX AAA PEPTIDASE-INTERACTING PROTEIN 1; MAIP1", "OMIM:617269": "SOCS2 ANTISENSE RNA 1, NONCODING; SOCS2AS1", "OMIM:617273": "CBY1-INTERACTING BAR DOMAIN-CONTAINING PROTEIN 1; CIBAR1", "OMIM:617274": "CBY1-INTERACTING BAR DOMAIN-CONTAINING PROTEIN 2; CIBAR2", "OMIM:617277": "DYNEIN HEAVY CHAIN DOMAIN 1; DNHD1", "OMIM:617278": "DENN DOMAIN-CONTAINING PROTEIN 5A; DENND5A", "OMIM:617279": "DENN DOMAIN-CONTAINING PROTEIN 5B; DENND5B", "OMIM:617283": "YTH DOMAIN-CONTAINING PROTEIN 1; YTHDC1", "OMIM:617285": "HIGH MOBILITY GROUP BOX 4; HMGB4", "OMIM:617286": "PITX2 ADJACENT NONCODING RNA; PANCR", "OMIM:617287": "PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 5; PLPPR5", "OMIM:617288": "SERINE PEPTIDASE INHIBITOR, KAZAL-TYPE, 7; SPINK7", "OMIM:617289": "FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER B; FAM53B", "OMIM:617291": "TRANSMEMBRANE PROTEIN 150B; TMEM150B", "OMIM:617292": "TRANSMEMBRANE PROTEIN 150C; TMEM150C", "OMIM:617293": "MATRIX REMODELING-ASSOCIATED PROTEIN 8; MXRA8", "OMIM:617295": "RUN DOMAIN-CONTAINING PROTEIN 3B; RUNDC3B", "OMIM:617298": "APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 3; AIFM3", "OMIM:617299": "RPA-INTERACTING PROTEIN; RPAIN", "OMIM:617305": "FAMILY WITH SEQUENCE SIMILARITY 26, MEMBER F; FAM26F", "OMIM:617307": "CHROMOSOME 14 OPEN READING FRAME 39; C14ORF39", "OMIM:617309": "IMMUNOGLOBULIN-LIKE AND FIBRONECTIN TYPE III DOMAINS-CONTAINING PROTEIN 1; IGFN1", "OMIM:617310": "ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 3; ANKS3", "OMIM:617311": "ZYMOGEN GRANULE PROTEIN, 16-KD; ZG16", "OMIM:617312": "FHF COMPLEX SUBUNIT HOOK-INTERACTING PROTEIN 2A; FHIP2A", "OMIM:617313": "SH2 DOMAIN-CONTAINING ADAPTOR PROTEIN F; SHF", "OMIM:617314": "SH3 DOMAIN- AND SYLF DOMAIN-CONTAINING PROTEIN 1; SH3YL1", "OMIM:617316": "TP53 TARGET GENE 5; TP53TG5", "OMIM:617317": "ZFP30 ZINC FINGER PROTEIN; ZFP30", "OMIM:617318": "RUN DOMAIN- AND SH3 DOMAIN-CONTAINING PROTEIN 1; RUSC1", "OMIM:617322": "SH3KBP1-BINDING PROTEIN 1; SHKBP1", "OMIM:617324": "SHISA FAMILY, MEMBER 2; SHISA2", "OMIM:617325": "SHISA FAMILY, MEMBER 3; SHISA3", "OMIM:617326": "SHISA FAMILY, MEMBER 4; SHISA4", "OMIM:617327": "SHISA FAMILY, MEMBER 6; SHISA6", "OMIM:617328": "SHISA FAMILY, MEMBER 7; SHISA7", "OMIM:617329": "SHISA FAMILY, MEMBER 8; SHISA8", "OMIM:617331": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 4B; MFSD4B", "OMIM:617332": "TELOMERE REPEAT-BINDING BOUQUET FORMATION PROTEIN 1; TERB1", "OMIM:617334": "ZINC FINGER DHHC-TYPE CONTAINING 23; ZDHHC23", "OMIM:617335": "EMOPAMIL-BINDING PROTEIN-LIKE; EBPL", "OMIM:617338": "NUDIX HYDROLASE 16-LIKE 1; NUDT16L1", "OMIM:617340": "URIDINE PHOSPHORYLASE 2; UPP2", "OMIM:617342": "PEPTIDYL-tRNA HYDROLASE DOMAIN-CONTAINING 1; PTRHD1", "OMIM:617344": "PEAK1-RELATED KINASE-ACTIVATING PSEUDOKINASE 1; PRAG1", "OMIM:617345": "ATP/GTP-BINDING PROTEIN-LIKE 2; AGBL2", "OMIM:617346": "ATP/GTP-BINDING PROTEIN-LIKE 3; AGBL3", "OMIM:617347": "HYPERLIPOPROTEINEMIA, TYPE III", "OMIM:617348": "CARBOXYPEPTIDASE X, M14 FAMILY, MEMBER 2; CPXM2", "OMIM:617351": "IMMUNOGLOBULIN SUPERFAMILY, MEMBER 10; IGSF10", "OMIM:617353": "DYNEIN, LIGHT CHAIN, TCTEX-TYPE, 2B; DYNLT2B", "OMIM:617354": "CHROMOBOX 8; CBX8", "OMIM:617355": "EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 2B; EID2B", "OMIM:617356": "SUBCOMMISSURAL ORGAN SPONDIN; SSPO", "OMIM:617357": "ZINC FINGER PROTEIN 222; ZNF222", "OMIM:617358": "SYNDECAN-BINDING PROTEIN 2; SDCBP2", "OMIM:617359": "STORKHEAD BOX 2; STOX2", "OMIM:617361": "TRANSMEMBRANE PROTEIN 108; TMEM108", "OMIM:617362": "DEAH-BOX HELICASE 37; DHX37", "OMIM:617363": "TRANSMEMBRANE PROTEIN 132A; TMEM132A", "OMIM:617365": "AAR2 SPLICING FACTOR; AAR2", "OMIM:617366": "COILED-COIL DOMAIN-CONTAINING PROTEIN 91; CCDC91", "OMIM:617367": "KIAA1217 GENE; KIAA1217", "OMIM:617368": "SH3 DOMAIN-BINDING PROTEIN 1; SH3BP1", "OMIM:617369": "HYALURONAN-BINDING PROTEIN 4; HABP4", "OMIM:617371": "ZINC FINGER PROTEIN 462; ZNF462", "OMIM:617372": "SHC TRANSFORMING PROTEIN 4; SHC4", "OMIM:617373": "PROLINE-RICH COILED-COIL PROTEIN 2C; PRRC2C", "OMIM:617374": "INHIBITOR OF CDK, CYCLIN A1-INTERACTING PROTEIN 1; INCA1", "OMIM:617375": "KELCH DOMAIN-CONTAINING PROTEIN 9; KLHDC9", "OMIM:617376": "PROLINE-RICH CYCLIN A1-INTERACTING PROTEIN; PROCA1", "OMIM:617377": "SYNAPSE DEFECTIVE RHO GTPase HOMOLOG 1; SYDE1", "OMIM:617378": "MYOSIN LIGHT CHAIN 11; MYL11", "OMIM:617379": "MYOSIN XIX; MYO19", "OMIM:617380": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 29; TIMM29", "OMIM:617381": "NUDIX HYDROLASE 16; NUDT16", "OMIM:617382": "START DOMAIN-CONTAINING PROTEIN 10; STARD10", "OMIM:617385": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E2", "OMIM:617386": "NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 5, PSEUDOGENE; NR1H5P", "OMIM:617387": "GLUTAMINE-RICH PROTEIN 1; QRICH1", "OMIM:617390": "KIAA1958 GENE; KIAA1958", "OMIM:617398": "FK506-BINDING PROTEIN 15; FKBP15", "OMIM:617399": "PEROXISOMAL MEMBRANE PROTEIN 2; PXMP2", "OMIM:617400": "EPOXIDE HYDROLASE 3; EPHX3", "OMIM:617401": "EPOXIDE HYDROLASE 4; EPHX4", "OMIM:617407": "POLYCOMB GROUP RING FINGER PROTEIN 5; PCGF5", "OMIM:617410": "ZINC FINGER PROTEIN 419; ZNF419", "OMIM:617411": "ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; ARFGEF3", "OMIM:617413": "PRUNE EXOPOLYPHOSPHATASE 1; PRUNE1", "OMIM:617414": "RIBOSOMAL PROTEIN L14; RPL14", "OMIM:617415": "RIBOSOMAL PROTEIN L31; RPL31", "OMIM:617416": "RIBOSOMAL PROTEIN L3-LIKE; RPL3L", "OMIM:617417": "RIBOSOMAL PROTEIN L7-LIKE 1; RPL7L1", "OMIM:617418": "WD REPEAT-CONTAINING PROTEIN 59; WDR59", "OMIM:617419": "PROLYL 3-HYDROXYLASE 4; P3H4", "OMIM:617420": "KICSTOR SUBUNIT 2; KICS2", "OMIM:617421": "INTEGRIN-ALPHA FG-GAP REPEAT-CONTAINING PROTEIN 2; ITFG2", "OMIM:617422": "ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX 2; ADNP2", "OMIM:617423": "PROLINE-RICH PROTEIN 14; PRR14", "OMIM:617424": "WD REPEAT-CONTAINING PROTEIN 26; WDR26", "OMIM:617426": "CYSTEINE-RICH C-TERMINAL 1; CRCT1", "OMIM:617427": "S100 CALCIUM-BINDING PROTEIN A7A; S100A7A", "OMIM:617428": "LIPID TRANSPORT AUXILIARY PROTEIN 1; LTAP1", "OMIM:617429": "UBIQUITIN-CONJUGATING ENZYME E2 Q1; UBE2Q1", "OMIM:617430": "ADHESION G PROTEIN-COUPLED RECEPTOR F1; ADGRF1", "OMIM:617431": "UBIQUITIN-SPECIFIC PEPTIDASE 53; USP53", "OMIM:617434": "COMPETING ENDOGENOUS LONG NONCODING RNA 2 FOR MICRO RNA LET7B; CERNA2", "OMIM:617436": "GON7 SUBUNIT OF KEOPS COMPLEX; GON7", "OMIM:617437": "S100 CALCIUM-BINDING PROTEIN A16; S100A16", "OMIM:617438": "CHROMOBOX 6; CBX6", "OMIM:617440": "PAPILLARY THYROID CARCINOMA SUSCEPTIBILITY CANDIDATE 1 GENE; PTCSC1", "OMIM:617444": "ZINC FINGER PROTEIN 479; ZNF479", "OMIM:617445": "UBIQUITIN-SPECIFIC PEPTIDASE 48; USP48", "OMIM:617446": "CHAC CATION TRANSPORT REGULATOR HOMOLOG 2; CHAC2", "OMIM:617447": "PABP-DEPENDENT POLY(A) NUCLEASE 2; PAN2", "OMIM:617448": "PABP-DEPENDENT POLY(A) NUCLEASE 3; PAN3", "OMIM:617449": "TRANSMEMBRANE PROTEIN 260; TMEM260", "OMIM:617451": "ALDO-KETO REDUCTASE FAMILY 1, MEMBER E2; AKR1E2", "OMIM:617453": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 26; TTC26", "OMIM:617454": "POLYMERASE III, RNA, SUBUNIT C; POLR3C", "OMIM:617455": "POLYMERASE III, RNA, SUBUNIT F; POLR3F", "OMIM:617456": "POLYMERASE III, RNA, SUBUNIT G; POLR3G", "OMIM:617457": "POLYMERASE III, RNA, SUBUNIT G-LIKE; POLR3GL", "OMIM:617458": "PRKR-INTERACTING PROTEIN 1, IL11-INDUCIBLE; PRKRIP1", "OMIM:617459": "TRANSMEMBRANE AND COILED-COIL DOMAIN FAMILY, MEMBER 3; TMCC3", "OMIM:617461": "YBEY METALLOPEPTIDASE; YBEY", "OMIM:617462": "PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR-RELATED PROTEIN 1; PPRC1", "OMIM:617463": "UNKEMPT FAMILY-LIKE ZINC FINGER; UNKL", "OMIM:617464": "UNC5 FAMILY C-TERMINAL-LIKE PROTEIN; UNC5CL", "OMIM:617465": "SMALL INTEGRAL MEMBRANE PROTEIN 20; SMIM20", "OMIM:617467": "FERM DOMAIN-CONTAINING PROTEIN 4B; FRMD4B", "OMIM:617469": "AFG1-LIKE ATPase; AFG1L", "OMIM:617470": "UBIQUITIN-SPECIFIC PEPTIDASE-LIKE 1; USPL1", "OMIM:617471": "SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 12; SERPINA12", "OMIM:617472": "TENASCIN N; TNN", "OMIM:617473": "ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT G; ATP5L", "OMIM:617474": "ZINC FINGER PROTEIN 609; ZNF609", "OMIM:617476": "CNKSR FAMILY, MEMBER 3; CNKSR3", "OMIM:617477": "ZINC FINGER PROTEIN 324; ZNF324", "OMIM:617479": "SSU2 HOMOLOG; SSUH2", "OMIM:617482": "TP53 TARGET GENE 3; TP53TG3", "OMIM:617483": "CORNICHON FAMILY AMPA RECEPTOR AUXILIARY PROTEIN 4; CNIH4", "OMIM:617484": "GAMETOCYTE-SPECIFIC FACTOR 1; GTSF1", "OMIM:617485": "WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 3; WDFY3", "OMIM:617486": "G-PATCH DOMAIN-CONTAINING PROTEIN 3; GPATCH3", "OMIM:617487": "DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 14; DNAJB14", "OMIM:617488": "RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 4; RPUSD4", "OMIM:617489": "LONG INTERGENIC NONCODING RNA 305; LINC00305", "OMIM:617490": "CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT DELTA; CATSPERD", "OMIM:617491": "NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 3; NSUN3", "OMIM:617492": "OLFACTOMEDIN 2; OLFM2", "OMIM:617494": "ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 2; EML2", "OMIM:617495": "TAFA CHEMOKINE-LIKE FAMILY MEMBER 1; TAFA1", "OMIM:617496": "FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A2, CC MOTIF CHEMOKINE-LIKE; FAM19A2", "OMIM:617497": "FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A3, CC MOTIF CHEMOKINE-LIKE; FAM19A3", "OMIM:617498": "FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A4, CC MOTIF CHEMOKINE-LIKE; FAM19A4", "OMIM:617499": "FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A5, CC MOTIF CHEMOKINE-LIKE; FAM19A5", "OMIM:617500": "UROTHELIAL CANCER-ASSOCIATED GENE 1; UCA1", "OMIM:617501": "LYSINE ACETYLTRANSFERASE 14; KAT14", "OMIM:617502": "WD REPEAT-CONTAINING PROTEIN 41; WDR41", "OMIM:617503": "DENN DOMAIN-CONTAINING PROTEIN 3; DENND3", "OMIM:617504": "SIPA1-LIKE PROTEIN 1; SIPA1L1", "OMIM:617505": "TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 1-LIKE 1; TRAM1L1", "OMIM:617508": "ZINC FINGER PROTEIN 598; ZNF598", "OMIM:617509": "VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 8; VWA8", "OMIM:617510": "CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT EPSILON; CATSPERE", "OMIM:617511": "CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT ZETA; CATSPERZ", "OMIM:617512": "ZINC FINGER PROTEIN 318; ZNF318", "OMIM:617513": "OXOGLUTARATE DEHYDROGENASE-LIKE PROTEIN; OGDHL", "OMIM:617515": "RHOMBOID DOMAIN-CONTAINING 1; RHBDD1", "OMIM:617517": "RIBOSOMAL PROTEIN S6 KINASE C1; RPS6KC1", "OMIM:617518": "BSD DOMAIN-CONTAINING PROTEIN 1; BSDC1", "OMIM:617521": "YIP1 DOMAIN FAMILY, MEMBER 1; YIPF1", "OMIM:617522": "YIP1 DOMAIN FAMILY, MEMBER 2; YIPF2", "OMIM:617528": "PROTEASOME ASSEMBLY CHAPERONE 3; PSMG3", "OMIM:617529": "FAST KINASE DOMAINS 1; FASTKD1", "OMIM:617530": "FAST KINASE DOMAINS 3; FASTKD3", "OMIM:617531": "COLLAGEN BETA(1-O)GALACTOSYLTRANSFERASE 1; COLGALT1", "OMIM:617533": "COLLAGEN BETA(1-O)GALACTOSYLTRANSFERASE 2; COLGALT2", "OMIM:617534": "YIP1 DOMAIN FAMILY, MEMBER 4; YIPF4", "OMIM:617535": "FAS APOPTOTIC INHIBITORY MOLECULE; FAIM", "OMIM:617536": "BAI1-ASSOCIATED PROTEIN 2-LIKE 2; BAIAP2L2", "OMIM:617538": "ELONGATION FACTOR-LIKE GTPase 1; EFL1", "OMIM:617539": "CHLORIDE CHANNEL CLIC-LIKE 1; CLCC1", "OMIM:617541": "ANKYRIN REPEAT- AND ZINC FINGER DOMAIN-CONTAINING 1; ANKZF1", "OMIM:617543": "POLYCOMB GROUP RING FINGER PROTEIN 3; PCGF3", "OMIM:617544": "LONG INTERGENIC NONCODING RNA 672; LINC00672", "OMIM:617545": "MINICHROMOSOME MAINTENANCE DOMAIN-CONTAINING PROTEIN 2; MCMDC2", "OMIM:617546": "HELT bHLH TRANSCRIPTION FACTOR; HELT", "OMIM:617548": "WAP 4-DISULFIDE CORE DOMAIN 2; WFDC2", "OMIM:617549": "TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 2; TP53INP2", "OMIM:617550": "PROTEASOME ASSEMBLY CHAPERONE 4; PSMG4", "OMIM:617551": "SID1 TRANSMEMBRANE FAMILY, MEMBER 2; SIDT2", "OMIM:617552": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 26; ARHGEF26", "OMIM:617553": "Fc FRAGMENT OF IgG-BINDING PROTEIN; FCGBP", "OMIM:617554": "FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 3; FGD3", "OMIM:617555": "FCH AND DOUBLE SH3 DOMAINS PROTEIN 1; FCHSD1", "OMIM:617556": "FCH AND DOUBLE SH3 DOMAINS PROTEIN 2; FCHSD2", "OMIM:617558": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 43; CFAP43", "OMIM:617559": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 44; CFAP44", "OMIM:617566": "ZINC FINGER PROTEIN 568; ZNF568", "OMIM:617567": "TUMOR PROTEIN D52-LIKE 3; TPD52L3", "OMIM:617568": "UPSTREAM TRANSCRIPTION FACTOR FAMILY, MEMBER 3; USF3", "OMIM:617569": "KINESIN FAMILY, MEMBER 15; KIF15", "OMIM:617570": "DAZ-INTERACTING ZINC FINGER PROTEIN 1-LIKE; DZIP1L", "OMIM:617573": "C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER B; CLEC12B", "OMIM:617578": "FER3-LIKE bHLH TRANSCRIPTION FACTOR; FERD3L", "OMIM:617579": "CLAUDIN 10; CLDN10", "OMIM:617580": "TETRASPANIN 16; TSPAN16", "OMIM:617581": "C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 2; C2CD2", "OMIM:617582": "C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 2-LIKE; C2CD2L", "OMIM:617583": "SULFIREDOXIN 1; SRXN1", "OMIM:617586": "FERM, ARHGEF, AND PLECKSTRIN DOMAINS-CONTAINING PROTEIN 2; FARP2", "OMIM:617587": "SMALL PROLINE-RICH PROTEIN 2D; SPRR2D", "OMIM:617588": "SMALL PROLINE-RICH PROTEIN 2E; SPRR2E", "OMIM:617589": "SMALL PROLINE-RICH PROTEIN 2F; SPRR2F", "OMIM:617590": "SMALL PROLINE-RICH PROTEIN 2G; SPRR2G", "OMIM:617594": "JUNCTIONAL CADHERIN COMPLEX REGULATOR; JHY", "OMIM:617597": "RETINOL SATURASE; RETSAT", "OMIM:617603": "RNA-BINDING MOTIF PROTEIN 24; RBM24", "OMIM:617608": "ALPHA KINASE 3; ALPK3", "OMIM:617611": "PICALM-INTERACTING MITOTIC REGULATOR; PIMREG", "OMIM:617612": "ARMADILLO REPEAT-CONTAINING PROTEIN 9; ARMC9", "OMIM:617614": "SPOUT DOMAIN-CONTAINING METHYLTRANSFERASE 1; SPOUT1", "OMIM:617615": "TRANSMEMBRANE PROTEIN 258; TMEM258", "OMIM:617617": "SPRY4 INTRONIC TRANSCRIPT 1, NONCODING; SPRY4IT1", "OMIM:617618": "TOG ARRAY REGULATOR OF AXONEMAL MICROTUBULES 1; TOGARAM1", "OMIM:617619": "MISATO MITOCHONDRIAL DISTRIBUTION AND MORPHOLOGY REGULATOR 1; MSTO1", "OMIM:617620": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 3; LRRC3", "OMIM:617621": "PAX3- AND PAX7-BINDING PROTEIN 1; PAXBP1", "OMIM:617623": "SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E1; SPDYE1", "OMIM:617624": "SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E2; SPDYE2", "OMIM:617625": "SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E3; SPDYE3", "OMIM:617627": "SMALL REGULATORY POLYPEPTIDE OF AMINO ACID RESPONSE; SPAAR", "OMIM:617628": "SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E4; SPDYE4", "OMIM:617630": "G PROTEIN-COUPLED RECEPTOR 37-LIKE 1; GPR37L1", "OMIM:617631": "IQ DOMAIN-CONTAINING PROTEIN E; IQCE", "OMIM:617632": "EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 7; EFCAB7", "OMIM:617634": "COILED-COIL GLUTAMATE-RICH PROTEIN 2; CCER2", "OMIM:617636": "CMKLR2 ANTISENSE RNA; CMKLR2AS", "OMIM:617640": "SUPPRESSOR OF TUMORIGENICITY 7-LIKE PROTEIN; ST7L", "OMIM:617645": "KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 4; KBTBD4", "OMIM:617646": "BAH DOMAIN- AND COILED-COIL DOMAIN-CONTAINING PROTEIN 1; BAHCC1", "OMIM:617647": "PROSTATE CANCER-ASSOCIATED TRANSCRIPT 18, NONCODING; PCAT18", "OMIM:617648": "BMP2-INDUCIBLE KINASE; BMP2K", "OMIM:617649": "UBIQUITIN-CONJUGATING ENZYME E2 O; UBE2O", "OMIM:617650": "PTGS2 ANTISENSE NFKB1 COMPLEX-MEDIATED EXPRESSION REGULATOR RNA, NONCODING; PACERR", "OMIM:617651": "EQTN, MOB3B, IFNK, AND C9ORF72 ENHANCER RNA I, NONCODING", "OMIM:617652": "MOB KINASE ACTIVATOR 3B; MOB3B", "OMIM:617653": "EQUATORIN; EQTN", "OMIM:617655": "PECANEX 1; PCNX1", "OMIM:617656": "PECANEX 2; PCNX2", "OMIM:617657": "PECANEX 3; PCNX3", "OMIM:617658": "SULFIDE:QUINONE OXIDOREDUCTASE; SQOR", "OMIM:617659": "LIPOYL(OCTANOYL) TRANSFERASE 2; LIPT2", "OMIM:617670": "MEIOSIS-SPECIFIC PROTEIN WITH OB DOMAINS; MEIOB", "OMIM:617673": "SPERMATOGENESIS-ASSOCIATED PROTEIN 22; SPATA22", "OMIM:617674": "STRESS-ASSOCIATED ENDOPLASMIC RETICULUM PROTEIN 1; SERP1", "OMIM:617676": "PROTEASOME 26S SUBUNIT, NON-ATPase, 3; PSMD3", "OMIM:617677": "ZO2-ASSOCIATED SPECKLE PROTEIN", "OMIM:617678": "PROSTATE CANCER-ASSOCIATED TRANSCRIPT 2, NONCODING; PCAT2", "OMIM:617679": "KELCH-LIKE 20; KLHL20", "OMIM:617680": "SSU72 HOMOLOG, RNA POLYMERASE II CTD PHOSPHATASE; SSU72", "OMIM:617683": "EGF-LIKE, FIBRONECTIN TYPE III, AND LAMININ G DOMAINS-CONTAINING PROTEIN; EGFLAM", "OMIM:617684": "Ly1 ANTIBODY-REACTIVE PROTEIN; LYAR", "OMIM:617685": "CADHERIN 26; CDH26", "OMIM:617686": "PITUITARY ADENOMA 3, MULTIPLE TYPES; PITA3", "OMIM:617687": "TBC1 DOMAIN FAMILY, MEMBER 23; TBC1D23", "OMIM:617688": "PROSTATE ANDROGEN-REGULATED MUCIN-LIKE PROTEIN 1; PARM1", "OMIM:617689": "COLD-SHOCK DOMAIN-CONTAINING PROTEIN C2; CSDC2", "OMIM:617692": "PR DOMAIN-CONTAINING PROTEIN 15; PRDM15", "OMIM:617693": "VITRIN; VIT", "OMIM:617696": "LONG INTERGENIC NONCODING RNA 1488; LINC01488", "OMIM:617697": "LONG INTERGENIC NONCODING RNA 2757; LINC02747", "OMIM:617699": "GID COMPLEX, SUBUNIT 4; GID4", "OMIM:617700": "UBIQUITIN-CONJUGATING ENZYME E2 F; UBE2F", "OMIM:617701": "CANCER SUSCEPTIBILITY CANDIDATE 8, NONCODING; CASC8", "OMIM:617702": "CANCER SUSCEPTIBILITY CANDIDATE 21, NONCODING; CASC21", "OMIM:617703": "CANCER SUSCEPTIBILITY CANDIDATE 19, NONCODING; CASC19", "OMIM:617704": "CANCER SUSCEPTIBILITY CANDIDATE 11, NONCODING; CASC11", "OMIM:617705": "COLON CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; CCAT1", "OMIM:617708": "CELL DIVISION CYCLE 123; CDC123", "OMIM:617714": "CAVEOLAE-ASSOCIATED PROTEIN 4; CAVIN4", "OMIM:617715": "MAM AND LDL RECEPTOR CLASS A DOMAIN-CONTAINING PROTEIN 1; MALRD1", "OMIM:617716": "RHO GTPase-ACTIVATING PROTEIN 44; ARHGAP44", "OMIM:617720": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 42; PPP1R42", "OMIM:617722": "THIOREDOXIN-LIKE 4B; TXNL4B", "OMIM:617723": "RIBOSOMAL RNA-PROCESSING 12; RRP12", "OMIM:617724": "TSC22 DOMAIN FAMILY, MEMBER 2; TSC22D2", "OMIM:617725": "FUCOSE MUTAROTASE; FUOM", "OMIM:617726": "CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 19; CARD19", "OMIM:617727": "TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 4; TM9SF4", "OMIM:617728": "CENTROSOMAL PROTEIN, 295-KD; CEP295", "OMIM:617733": "ZINC FINGER PROTEIN 518A; ZNF518A", "OMIM:617734": "ZINC FINGER PROTEIN 518B; ZNF518B", "OMIM:617735": "CHROMOSOME 10 OPEN READING FRAME 90; C10ORF90", "OMIM:617736": "MORN REPEAT-CONTAINING PROTEIN 4; MORN4", "OMIM:617737": "SPHINGOMYELIN PHOSPHODIESTERASE, ACID-LIKE, 3B; SMPDL3B", "OMIM:617738": "KELCH REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 6; KBTBD6", "OMIM:617739": "KELCH REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 7; KBTBD7", "OMIM:617740": "V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 10-LIKE; VSIG10L", "OMIM:617741": "WD REPEAT-CONTAINING PROTEIN 20; WDR20", "OMIM:617742": "KAT8 REGULATORY NSL COMPLEX, SUBUNIT 3; KANSL3", "OMIM:617745": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 12; MFSD12", "OMIM:617747": "NUCLEAR BODY PROTEIN SP140-LIKE; SP140L", "OMIM:617748": "TUDOR DOMAIN-CONTAINING PROTEIN 5; TDRD5", "OMIM:617749": "ACTN3 DEFICIENCY", "OMIM:617750": "LIM AND CALPONIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; LIMCH1", "OMIM:617753": "RIO KINASE 1; RIOK1", "OMIM:617754": "RIO KINASE 2; RIOK2", "OMIM:617758": "ZINC FINGER PROTEIN 692; ZNF692", "OMIM:617759": "RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 3; RPUSD3", "OMIM:617764": "ZYG11-RELATED CELL CYCLE REGULATOR; ZER1", "OMIM:617766": "FAMILY WITH SEQUENCE SIMILARITY 192, MEMBER A; FAM192A", "OMIM:617774": "LON PEPTIDASE 2, PEROXISOMAL; LONP2", "OMIM:617775": "G PROTEIN-COUPLED RECEPTOR 15 LIGAND; GPR15LG", "OMIM:617776": "BAGE FAMILY, MEMBER 2; BAGE2", "OMIM:617777": "BAGE FAMILY, MEMBER 3; BAGE3", "OMIM:617778": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 15; TXNDC15", "OMIM:617779": "TRANSMEMBRANE PROTEIN 256; TMEM256", "OMIM:617782": "GREB1-LIKE RETINOIC ACID RECEPTOR COACTIVATOR; GREB1L", "OMIM:617785": "PAPILIN, PROTEOGLYCAN-LIKE SULFATED GLYCOPROTEIN; PAPLN", "OMIM:617786": "CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 8; CCT8", "OMIM:617789": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 8; TXNDC8", "OMIM:617790": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 2; TXNDC2", "OMIM:617791": "LEUCINE-RICH REPEAT- AND COILED-COIL DOMAIN-CONTAINING CENTROSOMAL PROTEIN 1; LRRCC1", "OMIM:617792": "THIOREDOXIN DOMAIN-CONTAINING PROTEIN 11; TXNDC11", "OMIM:617793": "EEF1A LYSINE METHYLTRANSFERASE 1; EEF1AKMT1", "OMIM:617794": "EEF1A LYSINE METHYLTRANSFERASE 2; EEF1AKMT2", "OMIM:617795": "ELONGIN BC- AND POLYCOMB REPRESSIVE COMPLEX 2-ASSOCIATED PROTEIN; EPOP", "OMIM:617797": "SRC-RELATED KINASE LACKING C-TERMINAL REGULATORY TYROSINE AND N-TERMINAL MYRISTYLATION SITES; SRMS", "OMIM:617801": "CYCLASE-ASSOCIATED ACTIN CYTOSKELETON REGULATORY PROTEIN 1; CAP1", "OMIM:617803": "TRANSMEMBRANE PROTEIN 26; TMEM26", "OMIM:617806": "TRANSMEMBRANE PROTEIN 86B; TMEM86B", "OMIM:617811": "DNA REPLICATION REGULATOR AND SPLICEOSOMAL FACTOR SMU1; SMU1", "OMIM:617812": "SOLUTE CARRIER FAMILY 35, MEMBER G2; SLC35G2", "OMIM:617813": "TRANSMEMBRANE PROTEIN 88; TMEM88", "OMIM:617814": "TRANSMEMBRANE PROTEIN 95; TMEM95", "OMIM:617815": "POLYMERASE III, RNA, SUBUNIT E; POLR3E", "OMIM:617817": "TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 2; TUBGCP2", "OMIM:617818": "TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 3; TUBGCP3", "OMIM:617819": "RAL GUANINE NUCLEOTIDE EXCHANGE FACTOR WITH PH DOMAIN AND SH3 DOMAIN-BINDING MOTIF 2; RALGPS2", "OMIM:617823": "PWWP DOMAIN-CONTAINING PROTEIN 2A; PWWP2A", "OMIM:617824": "BROMODOMAIN AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; BRWD1", "OMIM:617826": "UNC50, INNER NUCLEAR MEMBRANE RNA-BINDING PROTEIN; UNC50", "OMIM:617828": "ZINC FINGER HOMEOBOX 2; ZFHX2", "OMIM:617832": "SENTAN, CILIA APICAL STRUCTURAL PROTEIN; SNTN", "OMIM:617833": "ZFHX2 ANTISENSE RNA 1, NONCODING; ZFHX2AS1", "OMIM:617834": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY J, MEMBER 1; PLEKHJ1", "OMIM:617835": "PYRUVATE DEHYDROGENASE PHOSPHATASE REGULATORY SUBUNIT; PDPR", "OMIM:617837": "GDNF FAMILY RECEPTOR ALPHA-LIKE PROTEIN; GFRAL", "OMIM:617838": "FAMILY WITH SEQUENCE SIMILARITY 234, MEMBER B; FAM234B", "OMIM:617840": "tRNA ISOPENTENYLTRANSFERASE 1; TRIT1", "OMIM:617841": "PROTEASOME SUBUNIT, ALPHA-TYPE, 8; PSMA8", "OMIM:617842": "PROTEASOME 26S SUBUNIT, NON-ATPase, 1; PSMD1", "OMIM:617843": "RWD DOMAIN-CONTAINING PROTEIN 2B; RWDD2B", "OMIM:617844": "PROTEASOME 26S SUBUNIT, NON-ATPase, 8; PSMD8", "OMIM:617845": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 2B; MFSD2B", "OMIM:617846": "PHD FINGER PROTEIN 5A; PHF5A", "OMIM:617847": "SPLICING FACTOR 3B, SUBUNIT 5; SF3B5", "OMIM:617848": "DEAD-BOX HELICASE 46; DDX46", "OMIM:617849": "U2 SMALL NUCLEAR RIBONUCLEOPROTEIN-ASSOCIATED SURP DOMAIN-CONTAINING PROTEIN; U2SURP", "OMIM:617850": "SERTA DOMAIN-CONTAINING PROTEIN 1; SERTAD1", "OMIM:617851": "SERTA DOMAIN-CONTAINING PROTEIN 2; SERTAD2", "OMIM:617852": "SEC23-INTERACTING PROTEIN; SEC23IP", "OMIM:617853": "SMALL VASOHIBIN-BINDING PROTEIN; SVBP", "OMIM:617855": "BASE METHYLTRANSFERASE OF 25S rRNA 2 HOMOLOG; BMT2", "OMIM:617856": "THYMOCYTE SELECTION-ASSOCIATED PROTEIN FAMILY, MEMBER 2; THEMIS2", "OMIM:617857": "PROTEASOME 26S SUBUNIT, NON-ATPase, 6; PSMD6", "OMIM:617858": "PROTEASOME INHIBITOR SUBUNIT 1; PSMF1", "OMIM:617859": "DISCS LARGE-ASSOCIATED PROTEIN 5; DLGAP5", "OMIM:617860": "SURFACTANT-ASSOCIATED PROTEIN 3; SFTA3", "OMIM:617861": "MYB-RELATED TRANSCRIPTION FACTOR, PARTNER OF PROFILIN; MYPOP", "OMIM:617863": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69; MRD69", "OMIM:617867": "TUMOR PROTEIN p53-INDUCIBLE PROTEIN 11; TP53I11", "OMIM:617868": "NUCLEAR ASSEMBLY FACTOR 1 RIBONUCLEOPROTEIN; NAF1", "OMIM:617869": "NK1 HOMEOBOX 1; NKX1-1", "OMIM:617870": "CENTROSOMAL PROTEIN 350; CEP350", "OMIM:617876": "RNA, U7 SMALL NUCLEAR, 1; RNU7-1", "OMIM:617878": "TUBULIN, ALPHA-3D; TUBA3D", "OMIM:617880": "POC5 CENTRIOLAR PROTEIN; POC5", "OMIM:617881": "CHROMOSOME 4 OPEN READING FRAME 54; C4ORF54", "OMIM:617884": "HEPATOMA-DERIVED GROWTH FACTOR-LIKE PROTEIN 2; HDGFL2", "OMIM:617886": "ZINC FINGER PROTEIN 512B; ZNF512B", "OMIM:617887": "AGMATINASE; AGMAT", "OMIM:617888": "ZINC FINGER PROTEIN 580; ZNF580", "OMIM:617889": "PYRIDINE NUCLEOTIDE-DISULPHIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 2; PYROXD2", "OMIM:617890": "ZINC FINGER PROTEIN 664; ZNF664", "OMIM:617891": "ZINC FINGER PROTEIN 655; ZNF655", "OMIM:617893": "RIBOSOMAL PROTEIN L36; RPL36", "OMIM:617894": "TRANSMEMBRANE PROTEIN 50B; TMEM50B", "OMIM:617896": "ZIC FAMILY, MEMBER 5; ZIC5", "OMIM:617897": "CITRATE SYNTHASE LYSINE METHYLTRANSFERASE; CSKMT", "OMIM:617901": "DEXAMETHASONE-INDUCED GENE; DEXI", "OMIM:617902": "GALECTIN-LIKE PROTEIN; LGALSL", "OMIM:617905": "HYPOXIA-INDUCIBLE LIPID DROPLET-ASSOCIATED PROTEIN; HILPDA", "OMIM:617906": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 20; CFAP20", "OMIM:617908": "ZINC FINGER PROTEIN 473; ZNF473", "OMIM:617909": "LSM10, U7 SMALL NUCLEAR RNA-ASSOCIATED PROTEIN; LSM10", "OMIM:617910": "LSM11, U7 SMALL NUCLEAR RNA-ASSOCIATED PROTEIN; LSM11", "OMIM:617918": "STRIATIN-INTERACTING PROTEIN 1; STRIP1", "OMIM:617919": "STRIATIN-INTERACTING PROTEIN 2; STRIP2", "OMIM:617922": "GLYCOPHORIN A; GYPA", "OMIM:617923": "GLYCOPHORIN B; GYPB", "OMIM:617932": "RHOPHILIN 2; RHPN2", "OMIM:617934": "AE-BINDING PROTEIN 2; AEBP2", "OMIM:617937": "RNA-BINDING MOTIF PROTEIN 11; RBM11", "OMIM:617939": "ZINC FINGER PROTEIN 69; ZFP69", "OMIM:617940": "PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G3; PLEKHG3", "OMIM:617942": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 17A, DEPALMITOYLASE; ABHD17A", "OMIM:617943": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 17B, DEPALMITOYLASE; ABHD17B", "OMIM:617944": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 17C, DEPALMITOYLASE; ABHD17C", "OMIM:617945": "BTB DOMAIN-CONTAINING PROTEIN 8; BTBD8", "OMIM:617946": "ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 1; ERGIC1", "OMIM:617947": "WD REPEAT-CONTAINING PROTEIN 74; WDR74", "OMIM:617948": "ELLIPTOCYTOSIS 3; EL3", "OMIM:617949": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 69; CFAP69", "OMIM:617953": "HYPERTHYROXINEMIA, EUTHYROID, CAUSED BY GENERALIZED 5-PRIME-DEIODINASE DEFICIENCY", "OMIM:617955": "PHENYTOIN TOXICITY", "OMIM:617956": "BETA-GLUCOPYRANOSIDE TASTING; BGLPT", "OMIM:617957": "LEUCINE RICH REPEATS- AND IQ MOTIF-CONTAINING PROTEIN 3; LRRIQ3", "OMIM:617958": "INTERACTOR OF LITTLE ELONGATION COMPLEX ELL SUBUNIT 1; ICE1", "OMIM:617962": "ZINC FINGER PROTEIN 827; ZNF827", "OMIM:617963": "TUDOR DOMAIN-CONTAINING PROTEIN 9; TDRD9", "OMIM:617966": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; LDLCQ7", "OMIM:617968": "WD REPEAT-CONTAINING PROTEIN 63; WDR63", "OMIM:617969": "COILED-COIL DOMAIN-CONTAINING PROTEIN 63; CCDC63", "OMIM:617970": "RH-NULL, AMORPH TYPE; RHNA", "OMIM:617971": "METHEMOGLOBINEMIA, BETA TYPE", "OMIM:617972": "ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 20; ZDHHC20", "OMIM:617973": "METHEMOGLOBINEMIA, ALPHA TYPE", "OMIM:617975": "FAMILY WITH SEQUENCE SIMILARITY 210, MEMBER A; FAM210A", "OMIM:617978": "CYFIP-RELATED RAC1 INTERACTOR B; CYRIB", "OMIM:617979": "LONG NONCODING RNA NEAR ACOD1", "OMIM:617980": "ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6", "OMIM:617981": "ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7", "OMIM:617986": "LOW DENSITY LIPOPROTEIN RECEPTOR CLASS A DOMAIN-CONTAINING PROTEIN 3; LDLRAD3", "OMIM:617987": "METHYLTRANSFERASE 13, EEF1A LYSINE AND N-TERMINAL METHYLTRANSFERASE; METTL13", "OMIM:617989": "N-ALPHA-ACETYLTRANSFERASE 30, NatC CATALYTIC SUBUNIT; NAA30", "OMIM:617990": "N-ALPHA-ACETYLTRANSFERASE 38, NatC AUXILIARY SUBUNIT; NAA38", "OMIM:617992": "DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE", "OMIM:617993": "TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2", "OMIM:617994": "TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3", "OMIM:617995": "IMPDH2 ENZYME ACTIVITY, VARIATION IN; IMPDH2V", "OMIM:617997": "RCC1 DOMAIN-CONTAINING PROTEIN 1; RCCD1", "OMIM:617998": "GRB2-ASSOCIATED REGULATOR OF MAPK1, SUBTYPE 1; GAREM1", "OMIM:617999": "GRB2-ASSOCIATED REGULATOR OF MAPK1, SUBTYPE 2; GAREM2", "OMIM:618001": "RAB11 EFFECTOR CONTAINING LIS1 HOMOLOGY DOMAIN, COILED-COIL DOMAINS, AND HEAT REPEATS; RELCH", "OMIM:618002": "MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 4; MAST4", "OMIM:618009": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61", "OMIM:618016": "RNA-BINDING REGION-CONTAINING PROTEIN 3; RNPC3", "OMIM:618017": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 16; ANKRD16", "OMIM:618018": "DRUG METABOLISM, ALTERED, CYP2C8-RELATED", "OMIM:618019": "RHIZOMELIC SKELETAL DYSPLASIA WITH OR WITHOUT PELGER-HUET ANOMALY; SKPHA", "OMIM:618020": "KELCH-LIKE 22; KLHL22", "OMIM:618023": "NOTCH2 N-TERMINAL-LIKE A; NOTCH2NLA", "OMIM:618024": "NOTCH2 N-TERMINAL-LIKE B; NOTCH2NLB", "OMIM:618025": "NOTCH2 N-TERMINAL-LIKE C; NOTCH2NLC", "OMIM:618026": "NOTCH2 N-TERMINAL-LIKE R; NOTCH2NLR", "OMIM:618028": "SHIELD COMPLEX, SUBUNIT 1; SHLD1", "OMIM:618029": "SHIELD COMPLEX, SUBUNIT 2; SHLD2", "OMIM:618030": "SHIELD COMPLEX, SUBUNIT 3; SHLD3", "OMIM:618032": "ZINC FINGER PROTEIN 768; ZNF768", "OMIM:618033": "ZINC FINGER PROTEIN 689; ZNF689", "OMIM:618034": "SOLUTE CARRIER FAMILY 43, MEMBER 3; SLC43A3", "OMIM:618035": "TBC1 DOMAIN FAMILY, MEMBER 9; TBC1D9", "OMIM:618037": "ZINC FINGER PROTEIN 536; ZNF536", "OMIM:618038": "SHORTAGE IN CHIASMATA 1; SHOC1", "OMIM:618039": "TBC1 DOMAIN FAMILY, MEMBER 9B; TBC1D9B", "OMIM:618040": "DIGEORGE SYNDROME CRITICAL REGION GENE 5; DGCR5", "OMIM:618041": "PURINE-RICH ELEMENT-BINDING PROTEIN G; PURG", "OMIM:618043": "POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 1; POU6F1", "OMIM:618044": "C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 5; C2CD5", "OMIM:618045": "DNA DAMAGE-INDUCED APOPTOSIS SUPPRESSOR; DDIAS", "OMIM:618046": "OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY A, MEMBER 1; OR1A1", "OMIM:618047": "OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY A, MEMBER 2; OR1A2", "OMIM:618051": "INNATE IMMUNITY ACTIVATOR; INAVA", "OMIM:618053": "ANDROGEN RECEPTOR-REGULATED LONG NONCODING RNA 1; ARLNC1", "OMIM:618054": "MEMBRANE INTEGRAL NOTCH2-ASSOCIATED RECEPTOR 1; MINAR1", "OMIM:618055": "CELLULAR REPRESSOR OF E1A-STIMULATED GENES 1; CREG1", "OMIM:618057": "DRUG METABOLISM, ALTERED, CES1-RELATED", "OMIM:618058": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 300; CFAP300", "OMIM:618059": "WD REPEAT-CONTAINING PROTEIN 25; WDR25", "OMIM:618062": "CYSTEINE-RICH SECRETORY PROTEIN 3; CRISP3", "OMIM:618064": "CYTOCHROME c OXIDASE ASSEMBLY FACTOR 16; COX16", "OMIM:618066": "HOMEOBOX B CLUSTER ANTISENSE RNA 1, NONCODING; HOXBAS1", "OMIM:618068": "SPERMATOGENIC LEUCINE ZIPPER PROTEIN 1; SPZ1", "OMIM:618069": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 6-LIKE; CNOT6L", "OMIM:618070": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 2; ATP6V1C2", "OMIM:618071": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 3; ATP6V1G3", "OMIM:618072": "ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 2; ATP6V0D2", "OMIM:618073": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 12; SAMD12", "OMIM:618074": "EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6", "OMIM:618075": "EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7", "OMIM:618077": "INFLAMMATORY BOWEL DISEASE 29; IBD29", "OMIM:618079": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8; LDLCQ8", "OMIM:618080": "WD REPEAT-AND FYVE DOMAIN-CONTAINING PROTEIN 1; WDFY1", "OMIM:618081": "IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING RECEPTOR 2; ILDR2", "OMIM:618082": "WD REPEAT-CONTAINING PROTEIN 33; WDR33", "OMIM:618083": "WW-BINDING PROTEIN 11; WBP11", "OMIM:618085": "POLYAMINE-MODULATED FACTOR 1-BINDING PROTEIN 1; PMFBP1", "OMIM:618099": "MITOCHONDRIAL RIBOSOMAL RNA METHYLTRANSFERASE 1; MRM1", "OMIM:618100": "MPV17 MITOCHONDRIAL INNER MEMBRANE PROTEIN-LIKE; MPV17L", "OMIM:618101": "MATRIX METALLOPROTEINASE 27; MMP27", "OMIM:618102": "SUMO-INTERACTING MOTIFS-CONTAINING PROTEIN 1; SIMC1", "OMIM:618104": "MEMBRANE METALLOENDOPEPTIDASE-LIKE 1; MMEL1", "OMIM:618105": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 15; SIGLEC15", "OMIM:618111": "ZINC FINGER PROTEIN 64; ZFP64", "OMIM:618118": "ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 3; EML3", "OMIM:618119": "ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 5; EML5", "OMIM:618121": "ATP SYNTHASE PERIPHERAL STALK, SUBUNIT D; ATP5PD", "OMIM:618122": "MTR4 EXOSOME RNA HELICASE; MTREX", "OMIM:618125": "KASH DOMAIN-CONTAINING PROTEIN 5; KASH5", "OMIM:618127": "CYTOCHROME C OXIDASE, SUBUNIT 6B2; COX6B2", "OMIM:618128": "GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 2; GDAP2", "OMIM:618130": "N-TERMINAL EF-HAND CALCIUM-BINDING PROTEIN 2; NECAB2", "OMIM:618132": "SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 14; SIGLEC14", "OMIM:618133": "NEUREXOPHILIN AND PC-ESTERASE DOMAIN FAMILY, MEMBER 4; NXPE4", "OMIM:618134": "UROTENSIN 2B; UTS2B", "OMIM:618136": "MAD2L1-BINDING PROTEIN; MAD2L1BP", "OMIM:618137": "MIS18 KINETOCHORE PROTEIN A: MIS18A", "OMIM:618139": "MIS18-BINDING PROTEIN 1; MIS18BP1", "OMIM:618146": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 251; CFAP251", "OMIM:618149": "OROFACIAL CLEFT 8; OFC8", "OMIM:618151": "TESTIS-EXPRESSED BASIC PROTEIN 1; TSBP1", "OMIM:618156": "SQUALENE SYNTHASE DEFICIENCY; SQSD", "OMIM:618159": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 21; PPP1R21", "OMIM:618163": "TRANSMEMBRANE PROTEIN 94; TMEM94", "OMIM:618166": "CYCLIN N-TERMINAL DOMAIN-CONTAINING PROTEIN 1; CNTD1", "OMIM:618169": "POU3F3-ADJACENT NONCODING TRANSCRIPT 1; PANTR1", "OMIM:618171": "KINESIN FAMILY MEMBER 16B; KIF16B", "OMIM:618172": "LONG NONCODING RNA UPREGULATOR OF ANTIVIRAL RESPONSE INTERFERON SIGNALING; LUARIS", "OMIM:618175": "WARBURG-CINOTTI SYNDROME; WRCN", "OMIM:618181": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 11; ZBTB11", "OMIM:618190": "LUNG CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; LUCAT1", "OMIM:618191": "CEA CELL ADHESION MOLECULE 21; CEACAM21", "OMIM:618192": "PROSTATE CANCER-ASSOCIATED TRANSCRIPT 19, NONCODING; PCAT19", "OMIM:618194": "SCAVENGER RECEPTOR CYSTEINE-RICH FAMILY MEMBER WITH 5 DOMAINS; SSC5D", "OMIM:618199": "APOBEC1 COMPLEMENTATION FACTOR; A1CF", "OMIM:618200": "MIDASIN AAA ATPase 1; MDN1", "OMIM:618202": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 30; DNAJC30", "OMIM:618203": "TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 4; TMTC4", "OMIM:618206": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 7B; ZC3H7B", "OMIM:618207": "SEC1 FAMILY DOMAIN-CONTAINING PROTEIN 1; SCFD1", "OMIM:618208": "LONG INTERGENIC NONCODING RNA 1159; LINC01159", "OMIM:618209": "HOXD ANTISENSE GROWTH-ASSOCIATED LONG NONCODING RNA; HAGLR", "OMIM:618210": "LIPID RAFT LINKING PROTEIN 1; RFTN1", "OMIM:618211": "PITRILYSIN METALLOPEPTIDASE 1; PITRM1", "OMIM:618212": "LONG INTERGENIC NONCODING RNA, p53-INDUCED TRANSCRIPT; LINC-PINT", "OMIM:618214": "LONG INTERGENIC NONCODING RNA 1157; LINC01157", "OMIM:618215": "LIPID RAFT LINKING PROTEIN 2; RFTN2", "OMIM:618216": "MIRLET7B HOST GENE, NONCODING; MIRLET7BHG", "OMIM:618217": "EGFR LONG NONCODING DOWNSTREAM RNA; ELDR", "OMIM:618227": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 56; LRRC56", "OMIM:618255": "MYOGENESIS-REGULATING GLYCOSIDASE; MYORG", "OMIM:618256": "BIPARENTAL MITOCHONDRIAL DNA TRANSMISSION", "OMIM:618258": "SEC11 HOMOLOG A, SIGNAL PEPTIDASE COMPLEX SUBUNIT; SEC11A", "OMIM:618259": "LONG INTERGENIC NONCODING RNA 1565; LINC01565", "OMIM:618260": "COILED-COIL DOMAIN-CONTAINING PROTEIN 47; CCDC47", "OMIM:618262": "cAMP RESPONSE ELEMENT-BINDING PROTEIN 5; CREB5", "OMIM:618263": "CALCIUM HOMEOSTASIS MODULATOR 3; CALHM3", "OMIM:618269": "ZINC FINGER PROTEIN 341; ZNF341", "OMIM:618271": "SEC61 TRANSLOCON, ALPHA-2 SUBUNIT; SEC61A2", "OMIM:618274": "PEPTIDYLPROLYL ISOMERASE DOMAIN- AND WD40 REPEAT-CONTAINING PROTEIN 1; PPWD1", "OMIM:618277": "NHL REPEAT-CONTAINING PROTEIN 2; NHLRC2", "OMIM:618281": "VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 2; VWA2", "OMIM:618288": "5-HYDROXYMETHYLCYTOSINE-BINDING PROTEIN, EMBRYONIC STEM CELL-SPECIFIC; HMCES", "OMIM:618289": "ENDOSOME-ASSOCIATED TRAFFICKING REGULATOR 1; ENTR1", "OMIM:618290": "WD REPEAT-CONTAINING PROTEIN 90; WDR90", "OMIM:618293": "INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 10; IFITM10", "OMIM:618294": "TRANSMEMBRANE PROTEIN 91; TMEM91", "OMIM:618296": "TRANSMEMBRANE PROTEIN 233; TMEM233", "OMIM:618297": "PROLINE-RICH TRANSMEMBRANE PROTEIN 1; PRRT1", "OMIM:618299": "LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 12; LRP12", "OMIM:618301": "KAZRIN, PERIPLAKIN-INTERACTING PROTEIN; KAZN", "OMIM:618303": "CAVEOLAE-ASSOCIATED PROTEIN 3; CAVIN3", "OMIM:618304": "GLUTAMINE-RICH PROTEIN 2; QRICH2", "OMIM:618305": "ATP1A1 ANTISENSE RNA 1, NONCODING; ATP1A1AS1", "OMIM:618306": "PROLINE-RICH PROTEIN 7; PRR7", "OMIM:618308": "NOP9 NUCLEOLAR PROTEIN; NOP9", "OMIM:618311": "RIBOSOME BIOGENESIS REGULATOR 1 HOMOLOG; RRS1", "OMIM:618312": "DIAMOND-BLACKFAN ANEMIA 19; DBA19", "OMIM:618315": "RIBOSOMAL PROTEIN L35; RPL35", "OMIM:618318": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 119; CFAP119", "OMIM:618319": "PR DOMAIN-CONTAINING PROTEIN 10; PRDM10", "OMIM:618320": "SECRETORY PHOSPHOLIPASE A2, GROUP IIE; PLA2G2E", "OMIM:618322": "UBIQUITIN-SPECIFIC PROTEASE 38; USP38", "OMIM:618326": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 3; ZCCHC3", "OMIM:618327": "CAPPING PROTEIN INHIBITING REGULATOR OF ACTIN DYNAMICS; CRACD", "OMIM:618332": "MENKE-HENNEKAM SYNDROME 1; MKHK1", "OMIM:618333": "MENKE-HENNEKAM SYNDROME 2; MKHK2", "OMIM:618334": "CYTOCHROME b(-254) CHAPERONE 1; CYBC1", "OMIM:618335": "LONG INTERGENIC NONCODING RNA 958; LINC00958", "OMIM:618337": "FERM DOMAIN-CONTAINING PROTEIN 8; FRMD8", "OMIM:618338": "THIOL METHYLTRANSFERASE 1A; TMT1A", "OMIM:618340": "SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 3A; SMR3A", "OMIM:618344": "PROLINE-RICH PROTEIN 15; PRR15", "OMIM:618350": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 14; TRAPPC14", "OMIM:618355": "ALG10 ALPHA-1,2-GLUCOSYLTRANSFERASE; ALG10", "OMIM:618359": "ZINC FINGER PROTEIN 197; ZNF197", "OMIM:618361": "DUAL-SPECIFICITY PHOSPHATASE 23; DUSP23", "OMIM:618365": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 10; ZSCAN10", "OMIM:618366": "VPS8 CORVET COMPLEX SUBUNIT; VPS8", "OMIM:618368": "DUAL-SPECIFICITY PHOSPHATASE 26; DUSP26", "OMIM:618370": "NEXN ANTISENSE RNA 1, NONCODING; NEXNAS1", "OMIM:618375": "FATTY ACID AMIDE HYDROLASE PSEUDOGENE 1; FAAHP1", "OMIM:618376": "PROTEASE, SERINE, 23; PRSS23", "OMIM:618377": "PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1; PAINQTL1", "OMIM:618380": "FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER D; FAM83D", "OMIM:618382": "CYTOSOLIC IRON-SULFUR ASSEMBLY COMPONENT 2A; CIAO2A", "OMIM:618385": "CYCLASE-ASSOCIATED ACTIN CYTOSKELETON REGULATORY PROTEIN 2; CAP2", "OMIM:618388": "FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2", "OMIM:618389": "FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3", "OMIM:618390": "BONE MORPHOGENETIC PROTEIN/RETINOIC ACID-INDUCIBLE NEURAL-SPECIFIC PROTEIN 3; BRINP3", "OMIM:618391": "DIPHTHAMIDE BIOSYNTHESIS PROTEIN 6; DPH6", "OMIM:618399": "GLYCOSYLTRANSFERASE 8 DOMAIN-CONTAINING PROTEIN 1; GLT8D1", "OMIM:618401": "FAMILY WITH SEQUENCE SIMILARITY 170, MEMBER A; FAM170A", "OMIM:618403": "FAMILY WITH SEQUENCE SIMILARITY 124, MEMBER B; FAM124B", "OMIM:618405": "ZINC FINGER PROTEIN 717; ZNF717", "OMIM:618407": "MINDY LYSINE-48 DEUBIQUITINASE 1; MINDY1", "OMIM:618408": "MINDY LYSINE-48 DEUBIQUITINASE 2; MINDY2", "OMIM:618409": "FAMILY WITH SEQUENCE SIMILARITY 8, MEMBER A1; FAM8A1", "OMIM:618411": "FTSJ RNA 2-PRIME-O-METHYLTRANSFERASE 3; FTSJ3", "OMIM:618413": "FAMILY WITH SEQUENCE SIMILARITY 149, MEMBER B1; FAM149B1", "OMIM:618417": "MEIOTIC DOUBLE-STRANDED BREAK FORMATION PROTEIN 4; MEI4", "OMIM:618421": "REC114 MEIOTIC RECOMBINATION PROTEIN; REC114", "OMIM:618423": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 31; ANKRD31", "OMIM:618424": "ARMADILLO REPEAT-CONTAINING PROTEIN 2; ARMC2", "OMIM:618427": "PROTON-ACTIVATED CHLORIDE CHANNEL 1; PACC1", "OMIM:618428": "REMOVED FROM DATABASE", "OMIM:618432": "HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4", "OMIM:618439": "UBIQUITIN-SPECIFIC PROTEASE 45; USP45", "OMIM:618441": "ADHESION G PROTEIN-COUPLED RECEPTOR G3; ADGRG3", "OMIM:618442": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 8; KCTD8", "OMIM:618444": "PLASMINOGEN RECEPTOR WITH C-TERMINAL LYSINE; PLGRKT", "OMIM:618445": "GHRELIN OPPOSITE STRAND, NONCODING; GHRLOS", "OMIM:618446": "GLYPICAN 2; GPC2", "OMIM:618447": "LONG QT SYNDROME 8; LQT8", "OMIM:618448": "G PROTEIN-COUPLED RECEPTOR 139; GPR139", "OMIM:618450": "RHOTEKIN 2; RTKN2", "OMIM:618452": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY B, MEMBER 2; PLEKHB2", "OMIM:618455": "HEPHAESTIN-LIKE PROTEIN 1; HEPHL1", "OMIM:618458": "KNOBLOCH SYNDROME 2; KNO2", "OMIM:618461": "NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 8; NDUFAF8", "OMIM:618463": "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2", "OMIM:618465": "BROMODOMAIN-CONTAINING PROTEIN 9; BRD9", "OMIM:618466": "BIOGENESIS OF RIBOSOMES BRIX1; BRIX1", "OMIM:618467": "SMC5-SMC6 COMPLEX LOCALIZATION FACTOR 1; SLF1", "OMIM:618468": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76", "OMIM:618471": "RIBOSOME PRODUCTION FACTOR 2 HOMOLOG; RPF2", "OMIM:618472": "ASPARAGINASE; ASPG", "OMIM:618473": "EUKARYOTIC TRANSLATION INITIATION FACTOR 1A DOMAIN-CONTAINING PROTEIN; EIF1AD", "OMIM:618474": "WDR83 OPPOSITE STRAND; WDR83OS", "OMIM:618478": "FYN-BINDING PROTEIN 2; FYB2", "OMIM:618483": "LLGL SCRIBBLE CELL POLARITY COMPLEX COMPONENT 2; LLGL2", "OMIM:618485": "ZBTB40 INTRONIC TRANSCRIPT 1, NONCODING; ZBTB40IT1", "OMIM:618486": "PHOSPHOLIPASE B DOMAIN-CONTAINING PROTEIN 1; PLBD1", "OMIM:618487": "G PROTEIN-COUPLED RECEPTOR 151; GPR151", "OMIM:618488": "PHOSPHOLIPASE D FAMILY, MEMBER 4; PLD4", "OMIM:618489": "BROMODOMAIN-CONTAINING PROTEIN 7; BRD7", "OMIM:618490": "G PROTEIN-COUPLED RECEPTOR 107; GPR107", "OMIM:618491": "G PROTEIN-COUPLED RECEPTOR 108; GPR108", "OMIM:618502": "BRD4-INTERACTING CHROMATIN REMODELING COMPLEX-ASSOCIATED PROTEIN-LIKE; BICRAL", "OMIM:618503": "PROTEIN O-GLUCOSYLTRANSFERASE 3; POGLUT3", "OMIM:618507": "WOUND- AND KERATINOCYTE MIGRATION-ASSOCIATED LONG NONCODING RNA 1; WAKMAR1", "OMIM:618508": "WOUND- AND KERATINOCYTE MIGRATION-ASSOCIATED LONG NONCODING RNA 2; WAKMAR2", "OMIM:618509": "OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY M, MEMBER 7; OR2M7", "OMIM:618510": "DYSTROTELIN; DYTN", "OMIM:618514": "BRMS1-LIKE TRANSCRIPTIONAL REPRESSOR; BRMS1L", "OMIM:618515": "TRANSMEMBRANE PROTEIN 33; TMEM33", "OMIM:618516": "OLFACTORY RECEPTOR, FAMILY 14, SUBFAMILY I, MEMBER 1; OR14I1", "OMIM:618517": "ANGIOPOIETIN-LIKE 7; ANGPTL7", "OMIM:618518": "LONG INTERGENIC NONCODING RNA 261; LINC00261", "OMIM:618519": "CHROMOSOME 2 OPEN READING FRAME 68; C2ORF68", "OMIM:618520": "EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 9; EFCAB9", "OMIM:618521": "ARMADILLO REPEAT-CONTAINING PROTEIN 8; ARMC8", "OMIM:618523": "HYPER-IgE SYNDROME 4B, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; HIES4B", "OMIM:618524": "CONGENITAL MYOPATHY 16; CMYO16", "OMIM:618525": "COILED-COIL DOMAIN-CONTAINING PROTEIN 33; CCDC33", "OMIM:618526": "PEAK FAMILY MEMBER 3; PEAK3", "OMIM:618530": "SERINE/THREONINE KINASE-LIKE DOMAIN-CONTAINING PROTEIN 1; STKLD1", "OMIM:618531": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6", "OMIM:618532": "CLK4-ASSOCIATING SERINE/ARGININE-RICH PROTEIN; CLASRP", "OMIM:618533": "DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37", "OMIM:618534": "IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION; IMD64", "OMIM:618536": "CACTIN, SPLICEOSOME C COMPLEX SUBUNIT; CACTIN", "OMIM:618537": "ARGININE VASOPRESSIN-INDUCED PROTEIN 1; AVPI1", "OMIM:618538": "CANNABINOID RECEPTOR-INTERACTING PROTEIN 1; CNRIP1", "OMIM:618539": "CALCIUM HOMEOSTASIS ENDOPLASMIC RETICULUM PROTEIN; CHERP", "OMIM:618540": "CELLULAR REPRESSOR OF E1A-STIMULATED GENES 2; CREG2", "OMIM:618542": "RAB, MEMBER OF RAS ONCOGENE FAMILY-LIKE 3; RABL3", "OMIM:618543": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 46; CFAP46", "OMIM:618544": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 16; ZSCAN16", "OMIM:618545": "GRPE-LIKE 2, MITOCHONDRIAL; GRPEL2", "OMIM:618547": "NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA", "OMIM:618548": "MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4", "OMIM:618549": "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH", "OMIM:618551": "MICROTUBULE-ASSOCIATED PROTEIN 10; MAP10", "OMIM:618552": "SPERM ACROSOME-ASSOCIATED PROTEIN 9; SPACA9", "OMIM:618553": "BONE MARROW-ASSOCIATED LONG NONCODING RNA; BMNCR", "OMIM:618554": "ZINC FINGER PROTEIN 84; ZNF84", "OMIM:618555": "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I", "OMIM:618556": "ENERGY HOMEOSTASIS-ASSOCIATED PROTEIN; ENHO", "OMIM:618557": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78", "OMIM:618558": "G PROTEIN SIGNALING MODULATOR 3; GPSM3", "OMIM:618559": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79", "OMIM:618560": "BETA-1,4-N-ACETYL-GALACTOSAMINYLTRANSFERASE 4; B4GALNT4", "OMIM:618561": "CELL WALL BIOGENESIS PROTEIN 43 C-TERMINAL HOMOLOG; CWH43", "OMIM:618562": "TESTIS-EXPRESSED GENE 261; TEX261", "OMIM:618563": "SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 4; SLC10A4", "OMIM:618565": "H1.7 LINKER HISTONE; H1-7", "OMIM:618566": "ADENINE NUCLEOTIDE TRANSLOCASE LYSINE METHYLTRANSFERASE; ANTKMT", "OMIM:618567": "MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17", "OMIM:618568": "ATP SYNTHASE C SUBUNIT LYSINE N-METHYLTRANSFERASE; ATPSCKMT", "OMIM:618569": "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM", "OMIM:618570": "TRIPARTITE MOTIF-CONTAINING PROTEIN 71; TRIM71", "OMIM:618571": "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF", "OMIM:618572": "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS", "OMIM:618573": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7", "OMIM:618574": "DUAL-SPECIFICITY PHOSPHATASE DOMAIN- AND PROLINE ISOMERASE DOMAIN-CONTAINING PROTEIN 1; DUPD1", "OMIM:618575": "E2F1 mRNA STABILIZING LONG NONCODING RNA; EMSLR", "OMIM:618576": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 10; ZBTB10", "OMIM:618577": "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF", "OMIM:618578": "CONGENITAL MYOPATHY 19; CMYO19", "OMIM:618579": "DISTAL MEMBRANE ARM ASSEMBLY COMPLEX 2-LIKE PROTEIN; DMAC2L", "OMIM:618580": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80", "OMIM:618581": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 34B; ANKRD34B", "OMIM:618582": "SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER A5; SLC10A5", "OMIM:618583": "MITOCHONDRIAL TRANSCRIPTION RESCUE FACTOR 1; MTRES1", "OMIM:618584": "NME/NM23 FAMILY, MEMBER 9; NME9", "OMIM:618585": "COILED-COIL DOMAIN-CONTAINING PROTEIN 51; CCDC51", "OMIM:618586": "WD REPEAT-CONTAINING PROTEIN 37; WDR37", "OMIM:618587": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60", "OMIM:618588": "PROTEIN DISULFIDE ISOMERASE-LIKE PROTEIN, TESTIS-EXPRESSED; PDILT", "OMIM:618589": "GASTROKINE 2; GKN2", "OMIM:618590": "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS", "OMIM:618591": "SHORT SLEEP, FAMILIAL NATURAL, 2; FNSS2", "OMIM:618592": "RING FINGER PROTEIN 217; RNF217", "OMIM:618593": "ZINC FINGER PROTEIN 398; ZNF398", "OMIM:618594": "NEPHROTIC SYNDROME, TYPE 21; NPHS21", "OMIM:618595": "CYTOSKELETON-ASSOCIATED PROTEIN 4; CKAP4", "OMIM:618596": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16", "OMIM:618597": "BRAIN-ENRICHED GUANYLATE KINASE-ASSOCIATED PROTEIN; BEGAIN", "OMIM:618598": "SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP", "OMIM:618599": "CADHERIN 24; CDH24", "OMIM:618600": "CALCIUM-BINDING PROTEIN, SPERMATID-ASSOCIATED 1; CABS1", "OMIM:618601": "EXONUCLEASE 5; EXO5", "OMIM:618602": "ADAM METALLOPEPTIDASE DOMAIN-CONTAINING PROTEIN 32; ADAM32", "OMIM:618603": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB", "OMIM:618604": "SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS", "OMIM:618605": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 9; ANKRD9", "OMIM:618606": "PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13", "OMIM:618607": "Yjef N-TERMINAL DOMAIN-CONTAINING PROTEIN 3; YJEFN3", "OMIM:618608": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS", "OMIM:618609": "HemK METHYLTRANSFERASE FAMILY, MEMBER 1; HEMK1", "OMIM:618610": "HOMEOBOX-CONTAINING PROTEIN 1; HMBOX1", "OMIM:618611": "HOMOLOGOUS RECOMBINATION FACTOR WITH OB-FOLD; HROB", "OMIM:618612": "LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO", "OMIM:618613": "RETINITIS PIGMENTOSA 86; RP86", "OMIM:618614": "CHIBBY FAMILY, MEMBER 2; CBY2", "OMIM:618615": "HEPATOCELLULAR CARCINOMA-UPREGULATED EZH2-ASSOCIATED LONG NONCODING RNA; HEIH", "OMIM:618616": "MITOGEN-ACTIVATED PROTEIN KINASE 15; MAPK15", "OMIM:618617": "ZINC FINGER HIT DOMAIN-CONTAINING PROTEIN 1; ZNHIT1", "OMIM:618618": "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN", "OMIM:618619": "WEISS-KRUSZKA SYNDROME; WSKA", "OMIM:618620": "ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4", "OMIM:618621": "ZINC FINGER DHHC-TYPE PALMITOYLTRANSFERASE 2; ZDHHC2", "OMIM:618622": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA", "OMIM:618623": "HIG1 HYPOXIA-INDUCIBLE DOMAIN FAMILY, MEMBER 1A; HIGD1A", "OMIM:618624": "NOONAN SYNDROME 12; NS12", "OMIM:618625": "ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1", "OMIM:618626": "PHOSPHORYLATED C-TERMINAL DOMAIN-INTERACTING FACTOR 1; PCIF1", "OMIM:618627": "GERM CELL-LESS 1, SPERMATOGENESIS-ASSOCIATED; GMCL1", "OMIM:618628": "METHYLTRANSFERASE 5, N6-ADENOSINE; METTL5", "OMIM:618629": "GERM CELL-LESS 2, SPERMATOGENESIS ASSOCIATED; GMCL2", "OMIM:618630": "tRNA METHYLTRANSFERASE SUBUNIT 11-2; TRMT112", "OMIM:618631": "NRDE2, NECESSARY FOR RNA INTERFERENCE, DOMAIN CONTAINING; NRDE2", "OMIM:618632": "USHER SYNDROME, TYPE 1M; USH1M", "OMIM:618633": "SOLUTE CARRIER FAMILY 5 (LOW-AFFINITY GLUCOSE COTRANSPORTER), MEMBER 4; SLC5A4", "OMIM:618634": "DELETED IN LYMPHOCYTIC LEUKEMIA 7; DLEU7", "OMIM:618635": "SIDDIQI SYNDROME; SIDDIS", "OMIM:618636": "SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 10; SLC5A10", "OMIM:618637": "OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1", "OMIM:618638": "HECT DOMAIN E3 UBIQUITIN PROTEIN LIGASE 3; HECTD3", "OMIM:618639": "NUTM2B ANTISENSE RNA 1; NUTM2BAS1", "OMIM:618640": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 3; ZC3H3", "OMIM:618641": "INFANTILE LIVER FAILURE SYNDROME 3; ILFS3", "OMIM:618642": "SH3 DOMAIN-CONTAINING RING FINGER PROTEIN 1; SH3RF1", "OMIM:618643": "SPERMATOGENIC FAILURE 39; SPGF39", "OMIM:618644": "OSTEOGENESIS IMPERFECTA, TYPE XX; OI20", "OMIM:618645": "PHD FINGER PROTEIN 12; PHF12", "OMIM:618646": "DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2", "OMIM:618647": "C1q- AND TNF-RELATED PROTEIN 2; C1QTNF2", "OMIM:618648": "IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65", "OMIM:618649": "HECT DOMAIN E3 UBIQUITIN PROTEIN LIGASE 1; HECTD1", "OMIM:618650": "RING FINGER PROTEIN 169; RNF169", "OMIM:618651": "HALPERIN-BIRK SYNDROME; HLBKS", "OMIM:618652": "NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS", "OMIM:618653": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF", "OMIM:618654": "CONGENITAL MYOPATHY 8; CMYO8", "OMIM:618655": "MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6", "OMIM:618656": "PROLINE- AND GLUTAMATE-RICH PROTEIN WITH COILED-COIL DOMAIN 1; PERCC1", "OMIM:618657": "La RIBONUCLEOPROTEIN 4; LARP4", "OMIM:618658": "ZIMMERMANN-LABAND SYNDROME 3; ZLS3", "OMIM:618659": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA", "OMIM:618660": "ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 10; CNSHA10", "OMIM:618661": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 70; CFAP70", "OMIM:618662": "DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11", "OMIM:618663": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81", "OMIM:618664": "SPERMATOGENIC FAILURE 40; SPGF40", "OMIM:618665": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72", "OMIM:618666": "SITOSTEROLEMIA 2; STSL2", "OMIM:618667": "HYDROCEPHALUS, CONGENITAL, 4; HYC4", "OMIM:618668": "GAMMA-AMINOBUTYRIC ACID RECEPTOR, RH0-3; GABRR3", "OMIM:618669": "YTH N6-METHYLADENOSINE RNA-BINDING PROTEIN 3; YTHDF3", "OMIM:618670": "SPERMATOGENIC FAILURE 41; SPGF41", "OMIM:618671": "ZINC FINGER DHHC DOMAIN-CONTAINING PALMITOYLTRANSFERASE 19; ZDHHC19", "OMIM:618672": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF", "OMIM:618673": "ZYG11 FAMILY, MEMBER B, CELL CYCLE REGULATOR; ZYG11B", "OMIM:618674": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 5; PFBMFT5", "OMIM:618675": "ZYG11 FAMILY, MEMBER A, CELL CYCLE REGULATOR; ZYG11A", "OMIM:618676": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 43; ZBTB43", "OMIM:618677": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10", "OMIM:618678": "CARBOXYLESTERASE 5A; CES5A", "OMIM:618679": "GDNF FAMILY RECEPTOR ALPHA-4; GFRA4", "OMIM:618680": "PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5", "OMIM:618681": "LESSEL-KUBISCH SYNDROME; LSKB", "OMIM:618682": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 276; CFAP276", "OMIM:618683": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6", "OMIM:618685": "TRANSMEMBRANE PROTEIN 63A; TMEM63A", "OMIM:618686": "TEKTIN 5; TEKT5", "OMIM:618687": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA", "OMIM:618688": "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19", "OMIM:618689": "NETRIN G2; NTNG2", "OMIM:618690": "PSORIASIS SUSCEPTIBILITY 1 CANDIDATE GENE 3, NONCODING; PSORS1C3", "OMIM:618691": "TRANSMEMBRANE PROTEIN 266; TMEM266", "OMIM:618692": "VESTIGIAL-LIKE FAMILY MEMBER 4; VGLL4", "OMIM:618693": "CHYMOTRYPSIN-LIKE ELASTASE 3A; CELA3A", "OMIM:618694": "CHYMOTRYPSIN-LIKE ELASTASE 3A; CELA3B", "OMIM:618695": "CILIARY DYSKINESIA, PRIMARY, 42; CILD42", "OMIM:618696": "GOLGI-ASSOCIATED OLFACTORY SIGNALING REGULATOR; GFY", "OMIM:618697": "RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87", "OMIM:618698": "DOUBLE HOMEOBOX B; DUXB", "OMIM:618699": "CILIARY DYSKINESIA, PRIMARY, 43; CILD43", "OMIM:618700": "CYTOPLASMIC POLYADENYLATED HOMEOBOX-LIKE; CPHXL", "OMIM:618701": "LEUCINE TWENTY HOMEOBOX; LEUTX", "OMIM:618702": "SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA", "OMIM:618703": "ZINC FINGER PROTEIN 281; ZNF281", "OMIM:618704": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 221; CFAP221", "OMIM:618705": "MBT DOMAIN-CONTAINING PROTEIN 1; MBTD1", "OMIM:618706": "HOXA CLUSTER ANTISENSE RNA 3, NONCODING; HOXAAS3", "OMIM:618707": "NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS", "OMIM:618708": "NEIGHBOR OF BRCA1 GENE 2, NONCODING; NBR2", "OMIM:618709": "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS", "OMIM:618710": "PARTNER OF NOB1; PNO1", "OMIM:618711": "METHYLTRANSFERASE-LIKE 15; METTL15", "OMIM:618712": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 45; ANKRD45", "OMIM:618713": "CYSTIN 1; CYS1", "OMIM:618714": "RAP1 GTPase-ACTIVATING PROTEIN 2; RAP1GAP2", "OMIM:618715": "ZINC FINGER DHHC-TYPE PALMITOYLTRANSFERASE 6; ZDHHC6", "OMIM:618716": "AUTOPHAGY 16-LIKE 2; ATG16L2", "OMIM:618717": "EPITHELIAL MITOGEN; EPGN", "OMIM:618718": "NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH", "OMIM:618719": "MEGABLADDER, CONGENITAL; MGBL", "OMIM:618720": "PEPTIDE DEFORMYLASE, MITOCHONDRIAL; PDF", "OMIM:618721": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82", "OMIM:618722": "FAMILY WITH SEQUENCE SIMILARITY 210, MEMBER B; FAM210B", "OMIM:618723": "PREMATURE OVARIAN FAILURE 16; POF16", "OMIM:618724": "HEYN-SPROUL-JACKSON SYNDROME; HESJAS", "OMIM:618725": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS", "OMIM:618726": "NIMA-RELATED KINASE 10; NEK10", "OMIM:618727": "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB", "OMIM:618728": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST", "OMIM:618729": "LIANG-WANG SYNDROME; LIWAS", "OMIM:618730": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS", "OMIM:618731": "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC", "OMIM:618732": "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS", "OMIM:618733": "NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS", "OMIM:618734": "ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12", "OMIM:618735": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 29; TTC29", "OMIM:618736": "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS", "OMIM:618737": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15; CDCBM15", "OMIM:618738": "TUBULIN TYROSINE LIGASE-LIKE 4; TTLL4", "OMIM:618739": "CTD SMALL PHOSPHATASE-LIKE PROTEIN 2; CTDSPL2", "OMIM:618740": "COILED-COIL DOMAIN-CONTAINING PROTEIN 154; CCDC154", "OMIM:618741": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA", "OMIM:618742": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 8A; ZBTB8A", "OMIM:618743": "PHOSPHOLIPID PHOSPHATASE 7; PLPP7", "OMIM:618744": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83", "OMIM:618745": "SPERMATOGENIC FAILURE 42; SPGF42", "OMIM:618746": "CORTEXIN 3; CTXN3", "OMIM:618747": "CHROMOSOME 1 OPEN READING FRAME 61; C1ORF61", "OMIM:618748": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA", "OMIM:618749": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 17; LRRC17", "OMIM:618750": "ACTIVATOR OF BASAL TRANSCRIPTION 1; ABT1", "OMIM:618751": "SPERMATOGENIC FAILURE 43; SPGF43", "OMIM:618752": "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8", "OMIM:618753": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 41; LRRC41", "OMIM:618754": "CARBOXYPEPTIDASE Q; CPQ", "OMIM:618755": "SHORT TRANSMEMBRANE MITOCHONDRIAL PROTEIN 1; STMP1", "OMIM:618756": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 10, DEPALMITOYLASE; ABHD10", "OMIM:618757": "CYTOCHROME b561 FAMILY, MEMBER A3; CYB561A3", "OMIM:618758": "DYNEIN REGULATORY COMPLEX SUBUNIT 3; DRC3", "OMIM:618759": "CALCIUM-BINDING PROTEIN 7; CABP7", "OMIM:618760": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM", "OMIM:618761": "CATIFA SYNDROME; CATIFA", "OMIM:618762": "2-PRIME-DEOXYNUCLEOSIDE 5-PRIME-PHOSPHATE N-HYDROLASE 1; DNPH1", "OMIM:618763": "JOUBERT SYNDROME 36; JBTS36", "OMIM:618764": "CDK2-ASSOCIATED CULLIN DOMAIN-CONTAINING PROTEIN 1; CACUL1", "OMIM:618765": "ESF1 NUCLEOLAR PRE-rRNA-PROCESSING PROTEIN; ESF1", "OMIM:618766": "ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4", "OMIM:618767": "CORNEAL DYSTROPHY, MEESMANN, 2; MECD2", "OMIM:618768": "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81", "OMIM:618769": "DYNEIN REGULATORY COMPLEX SUBUNIT 7; DRC7", "OMIM:618770": "SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82", "OMIM:618771": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 14A; ABHD14A", "OMIM:618772": "CDK5 AND ABL ENZYME SUBSTRATE 2; CABLES2", "OMIM:618773": "LYMPHATIC MALFORMATION 8; LMPHM8", "OMIM:618774": "CEBALID SYNDROME; CEBALID", "OMIM:618775": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10", "OMIM:618776": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34", "OMIM:618777": "CALPAIN 8; CAPN8", "OMIM:618778": "DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75", "OMIM:618779": "COFFIN-SIRIS SYNDROME 11; CSS11", "OMIM:618780": "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7", "OMIM:618781": "CILIARY DYSKINESIA, PRIMARY, 44; CILD44", "OMIM:618782": "LONG QT SYNDROME 16; LQT16", "OMIM:618783": "CYCLIN I; CCNI", "OMIM:618784": "PITH DOMAIN-CONTAINING PROTEIN 1; PITHD1", "OMIM:618785": "CELL DIVISION CYCLE-ASSOCIATED PROTEIN 2; CDCA2", "OMIM:618786": "IMAGAWA-MATSUMOTO SYNDROME; IMMAS", "OMIM:618787": "DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76", "OMIM:618788": "COILED-COIL DOMAIN-CONTAINING PROTEIN 134; CCDC134", "OMIM:618789": "CDV3 HOMOLOG; CDV3", "OMIM:618790": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 21; KCTD21", "OMIM:618791": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 6; KCTD6", "OMIM:618792": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84", "OMIM:618793": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62", "OMIM:618794": "KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 11; KBTBD11", "OMIM:618795": "JUVENILE ARTHRITIS; JUVAR", "OMIM:618796": "SAC3 DOMAIN-CONTAINING PROTEIN 1; SAC3D1", "OMIM:618797": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT", "OMIM:618798": "BECK-FAHRNER SYNDROME; BEFAHRS", "OMIM:618799": "CALCYPHOSINE-LIKE PROTEIN; CAPSL", "OMIM:618800": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28", "OMIM:618801": "CILIARY DYSKINESIA, PRIMARY, 45; CILD45", "OMIM:618802": "tRNA-HISTIDINE GUANYLYLTRANSFERASE 1-LIKE PROTEIN; THG1L", "OMIM:618803": "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP", "OMIM:618804": "SANDESTIG-STEFANOVA SYNDROME; SANDSTEF", "OMIM:618805": "TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD", "OMIM:618806": "T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND", "OMIM:618807": "LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS; LPAQTL", "OMIM:618808": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA", "OMIM:618809": "PIGB OPPOSITE STRAND 1; PIGBOS1", "OMIM:618810": "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL", "OMIM:618811": "MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18", "OMIM:618812": "UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 6; UQCC6", "OMIM:618813": "TUBULIN TYROSINE LIGASE-LIKE 7; TTLL7", "OMIM:618814": "KILLER CELL LECTIN-LIKE RECEPTOR F2; KLRF2", "OMIM:618815": "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT", "OMIM:618816": "CDY-LIKE PROTEIN 2; CDYL2", "OMIM:618817": "TRANSMEMBRANE PROTEIN 11; TMEM11", "OMIM:618818": "HOST CELL FACTOR C1 REGULATOR 1; HCFC1R1", "OMIM:618819": "PBX HOMEOBOX-INTERACTING PROTEIN 1; PBXIP1", "OMIM:618820": "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS", "OMIM:618821": "RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF", "OMIM:618822": "CONGENITAL MYOPATHY 9A; CMYO9A", "OMIM:618823": "CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS; CMYO9B", "OMIM:618824": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8", "OMIM:618825": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63", "OMIM:618826": "RETINITIS PIGMENTOSA 88; RP88", "OMIM:618827": "MYOPIA 27, AUTOSOMAL DOMINANT; MYP27", "OMIM:618828": "NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1", "OMIM:618829": "NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2", "OMIM:618830": "AUTISM, SUSCEPTIBILITY TO, 20; AUTS20", "OMIM:618831": "TRANSMEMBRANE PROTEIN 37; TMEM37", "OMIM:618832": "EPILEPSY, EARLY-ONSET, 2, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO2", "OMIM:618833": "RAL GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT BETA; RALGAPB", "OMIM:618834": "LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 4; LAMTOR4", "OMIM:618835": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40", "OMIM:618836": "RAL GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT ALPHA-2; RALGAPA2", "OMIM:618837": "LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 4, ALPHA; LAPTM4A", "OMIM:618838": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41", "OMIM:618839": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42", "OMIM:618840": "ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4", "OMIM:618841": "HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25", "OMIM:618842": "HORMA DOMAIN-CONTAINING PROTEIN 2; HORMAD2", "OMIM:618843": "LAYILIN; LAYN", "OMIM:618844": "L3MBTL HISTONE METHYL-LYSINE-BINDING PROTEIN 3; L3MBTL3", "OMIM:618845": "VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3", "OMIM:618846": "DIETS-JONGMANS SYNDROME; DIJOS", "OMIM:618847": "IMMUNODEFICIENCY 66; IMD66", "OMIM:618848": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26", "OMIM:618849": "BONE MARROW FAILURE SYNDROME 6; BMFS6", "OMIM:618850": "HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI", "OMIM:618851": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43", "OMIM:618852": "AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL", "OMIM:618853": "ANAUXETIC DYSPLASIA 3; ANXD3", "OMIM:618854": "SIGNAL PEPTIDASE COMPLEX, SUBUNIT 3; SPCS3", "OMIM:618855": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44", "OMIM:618856": "DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2", "OMIM:618857": "DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3", "OMIM:618858": "DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4", "OMIM:618859": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES; NEDASB", "OMIM:618860": "CHROMOSOME 1 OPEN READING FRAME 87; C1ORF87", "OMIM:618861": "IGLON FAMILY, MEMBER 5; IGLON5", "OMIM:618862": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS", "OMIM:618863": "RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD", "OMIM:618864": "CHROMOSOME 19 OPEN READING FRAME 48, PSEUDOGENE; C19ORF48P", "OMIM:618865": "CEP85-LIKE PROTEIN; CEP85L", "OMIM:618866": "TREMOR, HEREDITARY ESSENTIAL, 6; ETM6", "OMIM:618867": "RAS HOMOLOG GENE FAMILY, MEMBER F, FILOPODIA-ASSOCIATED; RHOF", "OMIM:618868": "NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC", "OMIM:618869": "RING FINGER PROTEIN 144B; RNF144B", "OMIM:618870": "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA", "OMIM:618871": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 16; ARHGEF16", "OMIM:618872": "NIZON-ISIDOR SYNDROME; NIZIDS", "OMIM:618873": "LISSENCEPHALY 10; LIS10", "OMIM:618874": "CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB", "OMIM:618875": "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC", "OMIM:618876": "EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11", "OMIM:618877": "LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN", "OMIM:618878": "LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD", "OMIM:618879": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS", "OMIM:618880": "GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC", "OMIM:618881": "GALACTOSEMIA IV; GALAC4", "OMIM:618882": "IMERSLUND-GRASBECK SYNDROME 2; IGS2", "OMIM:618883": "HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2", "OMIM:618884": "PROTEINURIA, CHRONIC BENIGN; PROCHOB", "OMIM:618885": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T", "OMIM:618886": "PSEUDO-TORCH SYNDROME 3; PTORCH3", "OMIM:618887": "NUCLEAR FACTOR KAPPA-B INHIBITOR, DELTA; NFKBID", "OMIM:618888": "CAS SCAFFOLD PROTEIN FAMILY, MEMBER 4; CASS4", "OMIM:618889": "LIBERFARB SYNDROME; LIBF", "OMIM:618890": "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS", "OMIM:618891": "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH", "OMIM:618892": "HARDEROPORPHYRIA; HARPO", "OMIM:618893": "NUCLEOLAR PROTEIN 4-LIKE; NOL4L", "OMIM:618894": "REACTIVE OXYGEN SPECIES MODULATOR 1; ROMO1", "OMIM:618895": "IZUMO FAMILY, MEMBER 2; IZUMO2", "OMIM:618896": "IZUMO FAMILY, MEMBER 3; IZUMO3", "OMIM:618897": "IZUMO FAMILY, MEMBER 4; IZUMO4", "OMIM:618898": "CENTROSOMAL PROTEIN, 85-KD; CEP85", "OMIM:618899": "MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 2; MAN2B2", "OMIM:618900": "ZINC FINGER CW-TYPE DOMAIN- AND PWWP DOMAIN-CONTAINING PROTEIN 1; ZCWPW1", "OMIM:618901": "46,XX SEX REVERSAL 5; SRXX5", "OMIM:618902": "METHYLTRANSFERASE 2A, METHYLCYTIDINE; METTL2A", "OMIM:618903": "METHYLTRANSFERASE 6, METHYLCYTIDINE; METTL6", "OMIM:618904": "DALR ANTICODON-BINDING DOMAIN-CONTAINING PROTEIN 3; DALRD3", "OMIM:618905": "SILVER-RUSSELL SYNDROME 2; SRS2", "OMIM:618906": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS", "OMIM:618907": "SILVER-RUSSELL SYNDROME 4; SRS4", "OMIM:618908": "SILVER-RUSSELL SYNDROME 5; SRS5", "OMIM:618909": "ILK-ASSOCIATED SERINE/THREONINE PHOSPHATASE; ILKAP", "OMIM:618910": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86", "OMIM:618911": "CHROMOSOME 16 OPEN READING FRAME 92; C16ORF92", "OMIM:618912": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 8; HMNR8", "OMIM:618913": "FANCONI RENOTUBULAR SYNDROME 5; FRTS5", "OMIM:618914": "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED", "OMIM:618915": "DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77", "OMIM:618916": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87", "OMIM:618917": "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB", "OMIM:618918": "PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9", "OMIM:618919": "KELCH-LIKE FAMILY, MEMBER 42; KLHL42", "OMIM:618920": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14", "OMIM:618921": "LACTAMASE, BETA-2; LACTB2", "OMIM:618922": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA", "OMIM:618923": "FATTY ACID-BINDING PROTEIN 12; FABP12", "OMIM:618924": "EPISODIC ATAXIA, TYPE 9; EA9", "OMIM:618925": "G PROTEIN-COUPLED RECEPTOR 171; GPR171", "OMIM:618926": "OSTEOMODULIN; OMD", "OMIM:618927": "KERATIN-ASSOCIATED PROTEIN 24-1; KRTAP24-1", "OMIM:618928": "LACTATE DEHYDROGENASE A-LIKE PROTEIN 6A; LDHAL6A", "OMIM:618929": "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS", "OMIM:618930": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 18B; ANKRD18B", "OMIM:618931": "ZINC FINGER NFX1-TYPE DOMAIN-CONTAINING PROTEIN 1; ZNFX1", "OMIM:618932": "OLIGOSACCHARYLTRANSFERASE COMPLEX, SUBUNIT 4, NONCATALYTIC; OST4", "OMIM:618933": "SH3 DOMAIN-CONTAINING RING FINGER PROTEIN 3; SH3RF3", "OMIM:618934": "COILED-COIL SERINE-RICH PROTEIN 1; CCSER1", "OMIM:618935": "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5", "OMIM:618936": "SPERMATOGENESIS-ASSOCIATED PROTEIN 25; SPATA25", "OMIM:618937": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 35; PPP1R35", "OMIM:618938": "LONG NONCODING RNA ASSOCIATED WITH SART3 REGULATION OF SPLICING; LASTR", "OMIM:618939": "TREACHER COLLINS SYNDROME 4; TCS4", "OMIM:618940": "OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2", "OMIM:618941": "COILED-COIL DOMAIN-CONTAINING PROTEIN 32; CCDC32", "OMIM:618942": "IQ MOTIF- AND ANKYRIN REPEAT-CONTAINING PROTEIN 1; IQANK1", "OMIM:618943": "SMALL NUCLEOLAR RNA, C/D BOX, 8; SNORD8", "OMIM:618944": "HYPER-IgE SYNDROME 5, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; HIES5", "OMIM:618945": "SPERM ACROSOME-ASSOCIATED PROTEIN 6; SPACA6", "OMIM:618946": "LLLL MOTIF- AND CFNLAS MOTIF-CONTAINING PROTEIN 1; LLCFC1", "OMIM:618947": "ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5", "OMIM:618948": "HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9", "OMIM:618949": "RIBOSOMAL MODIFICATION PROTEIN RimK-LIKE FAMILY, MEMBER A; RIMKLA", "OMIM:618950": "SULEIMAN-EL-HATTAB SYNDROME; SULEHS", "OMIM:618951": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45", "OMIM:618952": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46", "OMIM:618953": "CYTOCHROME P450, FAMILY 4, SUBFAMILY Z, MEMBER 1; CYP4Z1", "OMIM:618954": "CYTOCHROME P450, FAMILY 4, SUBFAMILY Z, MEMBER 2, PSEUDOGENE; CYP4Z2P", "OMIM:618955": "RETINITIS PIGMENTOSA 89; RP89", "OMIM:618956": "RHEB-LIKE PROTEIN 1; RHEBL1", "OMIM:618957": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 27; ANKRD27", "OMIM:618958": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47", "OMIM:618959": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88", "OMIM:618960": "MITCHELL SYNDROME; MITCH", "OMIM:618961": "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD", "OMIM:618962": "OVOCHYMASE 2; OVCH2", "OMIM:618963": "IMMUNODEFICIENCY 69; IMD69", "OMIM:618964": "REQUIRED FOR MEIOTIC NUCLEAR DIVISION 5 HOMOLOG A; RMND5A", "OMIM:618965": "TRANSMEMBRANE PROTEIN 9 SUPERFAMILY, MEMBER 1; TM9SF1", "OMIM:618966": "TRANSMEMBRANE PROTEIN 161A; TMEM161A", "OMIM:618967": "ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 3; ABCF3", "OMIM:618968": "CHROMOSOME 1 OPEN READING FRAME 146; C1ORF146", "OMIM:618969": "IMMUNODEFICIENCY 70; IMD70", "OMIM:618970": "CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS", "OMIM:618971": "TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS", "OMIM:618972": "MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19", "OMIM:618973": "SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY; SMVTD", "OMIM:618974": "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS", "OMIM:618975": "CONGENITAL MYOPATHY 17; CMYO17", "OMIM:618976": "MYOCARDIN-INDUCED SMOOTH MUSCLE LONG NONCODING RNA, INDUCER OF DIFFERENTIATION; MYOSLID", "OMIM:618977": "OPTIC ATROPHY 12; OPA12", "OMIM:618978": "TRANSMEMBRANE PROTEIN 163; TMEM163", "OMIM:618979": "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; HDLCQ7", "OMIM:618980": "CENTROSOMAL PROTEIN, 112-KD; CEP112", "OMIM:618981": "VPS35 ENDOSOMAL PROTEIN-SORTING FACTOR-LIKE; VPS35L", "OMIM:618982": "IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION; IMD72", "OMIM:618983": "BLOOD GROUP, LEWIS SYSTEM; LE", "OMIM:618984": "SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 3; SUN3", "OMIM:618985": "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2", "OMIM:618986": "IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B", "OMIM:618987": "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C", "OMIM:618988": "CLARIN 2; CLRN2", "OMIM:618989": "TRANSMEMBRANE PROTEIN 119; TMEM119", "OMIM:618990": "EVA1 HOMOLOG A, REGULATOR OF PROGRAMMED CELL DEATH; EVA1A", "OMIM:618991": "SEMAPHORIN 4G; SEMA4G", "OMIM:618992": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15", "OMIM:618993": "RING FINGER PROTEIN 208; RNF208", "OMIM:618994": "4-HYDROXYPHENYLPYRUVATE DIOXYGENASE-LIKE; HPDL", "OMIM:618995": "BPES CANDIDATE GENE 1; BPESC1", "OMIM:618996": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 3B; LRRC3B", "OMIM:618997": "CYTIDINE AND DEOXYCYTIDYLATE DEAMINASE DOMAIN-CONTAINING PROTEIN 1; CDADC1", "OMIM:618998": "IMMUNE DYSREGULATION AND SYSTEMIC HYPERINFLAMMATION SYNDROME; IMDYSHI", "OMIM:618999": "AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE", "OMIM:619000": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD", "OMIM:619001": "ANGEL HOMOLOG 2; ANGEL2", "OMIM:619002": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 18; LRRC18", "OMIM:619003": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35", "OMIM:619004": "DEEAH SYNDROME; DEEAH", "OMIM:619005": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH", "OMIM:619006": "BASIC IMMUNOGLOBULIN-LIKE VARIABLE MOTIF-CONTAINING PROTEIN; BIVM", "OMIM:619007": "RETINITIS PIGMENTOSA 90; RP90", "OMIM:619008": "LONG INTERGENIC NONCODING RNA 598; LINC00598", "OMIM:619009": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 8; OZEMA8", "OMIM:619010": "ATXN7-LIKE 3; ATXN7L3", "OMIM:619011": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9; OZEMA9", "OMIM:619012": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48", "OMIM:619013": "RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2", "OMIM:619014": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 5; TTC5", "OMIM:619015": "ENY2 TRANSCRIPTION AND EXPORT COMPLEX 2 SUBUNIT; ENY2", "OMIM:619016": "IFAP SYNDROME 2; IFAP2", "OMIM:619017": "RHOMBOID-LIKE 3; RHBDL3", "OMIM:619018": "MICRO RNA 30B; MIR30B", "OMIM:619019": "MICRO RNA 30D; MIR30D", "OMIM:619020": "LRP2-BINDING PROTEIN; LRP2BP", "OMIM:619021": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 37; ANKRD37", "OMIM:619022": "TRANSMEMBRANE PROTEIN 229B; TMEM229B", "OMIM:619023": "OLIGOSACCHARYLTRANSFERASE COMPLEX, NONCATALYTIC SUBUNIT; OSTC", "OMIM:619024": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49", "OMIM:619025": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50", "OMIM:619026": "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA", "OMIM:619027": "SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83", "OMIM:619028": "COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9", "OMIM:619029": "KERATINOCYTE-ASSOCIATED PROTEIN 2; KRTCAP2", "OMIM:619030": "SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS; SMGMQTL", "OMIM:619031": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF", "OMIM:619032": "RETICULOCALBIN 3; RCN3", "OMIM:619033": "VISSERS-BODMER SYNDROME; VIBOS", "OMIM:619034": "RNA-BINDING PROTEIN, mRNA-PROCESSING FACTOR, 2; RBPMS2", "OMIM:619035": "MICRO RNA 29B2; MIR29B2", "OMIM:619036": "MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA", "OMIM:619037": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 34; LRRC34", "OMIM:619038": "SPOC DOMAIN-CONTAINING PROTEIN 1; SPOCD1", "OMIM:619039": "REPLICATION INITIATOR 1; REPIN1", "OMIM:619040": "MYOFIBRILLAR MYOPATHY 10; MFM10", "OMIM:619041": "MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2", "OMIM:619042": "SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI", "OMIM:619043": "INOSITOL-PENTAKISPHOSPHATE 2-KINASE; IPPK", "OMIM:619044": "SPERMATOGENIC FAILURE 44; SPGF44", "OMIM:619045": "SERINE HYDROLASE-LIKE 2; SERHL2", "OMIM:619046": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3", "OMIM:619047": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 32; PPP1R32", "OMIM:619048": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4", "OMIM:619049": "TESTIS DEVELOPMENT-RELATED PROTEIN; TDRP", "OMIM:619050": "3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE-LIKE PROTEIN 1; HMGCLL1", "OMIM:619051": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7", "OMIM:619052": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8", "OMIM:619053": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10", "OMIM:619054": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11", "OMIM:619055": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12", "OMIM:619056": "NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID", "OMIM:619057": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51", "OMIM:619058": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14", "OMIM:619059": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15", "OMIM:619060": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16", "OMIM:619061": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17", "OMIM:619062": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18", "OMIM:619063": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19", "OMIM:619064": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20", "OMIM:619065": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21", "OMIM:619066": "ZINC FINGER PROTEIN 532; ZNF532", "OMIM:619067": "HYDROXYSTEROID DEHYDROGENASE-LIKE PROTEIN 1; HSDL1", "OMIM:619068": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 19; LRRC19", "OMIM:619069": "TERMINAL NUCLEOTIDYLTRANSFERASE 5B; TENT5B", "OMIM:619070": "LETM1 DOMAIN-CONTAINING PROTEIN 1; LETMD1", "OMIM:619071": "LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20", "OMIM:619072": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA", "OMIM:619073": "VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3", "OMIM:619074": "CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD", "OMIM:619075": "BACHMANN-BUPP SYNDROME; BABS", "OMIM:619076": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB", "OMIM:619077": "HEAT-SHOCK PROTEIN FAMILY A (HSP70) MEMBER 4-LIKE PROTEIN; HSPA4L", "OMIM:619078": "KELCH-LIKE FAMILY, MEMBER 11; KLHL11", "OMIM:619079": "INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30", "OMIM:619080": "KILQUIST SYNDROME; KILQS", "OMIM:619081": "DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78", "OMIM:619082": "MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1", "OMIM:619083": "DELPIRE-MCNEILL SYNDROME; DELMNES", "OMIM:619084": "TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 3; TIGD3", "OMIM:619085": "PROGENITOR RENEWAL-ASSOCIATED NONCODING RNA; PRANCR", "OMIM:619086": "DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79", "OMIM:619087": "NOONAN SYNDROME 13; NS13", "OMIM:619088": "NUCLEAR GTPase, GERMINAL CENTER-ASSOCIATED; NUGGC", "OMIM:619089": "GIPC PDZ DOMAIN-CONTAINING FAMILY, MEMBER 2; GIPC2", "OMIM:619090": "DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN", "OMIM:619091": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG", "OMIM:619092": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG", "OMIM:619093": "DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116", "OMIM:619094": "SPERMATOGENIC FAILURE 45; SPGF45", "OMIM:619095": "SPERMATOGENIC FAILURE 46; SPGF46", "OMIM:619096": "MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2", "OMIM:619097": "MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3", "OMIM:619098": "MEIOSIS 1-ASSOCIATED PROTEIN; M1AP", "OMIM:619099": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN", "OMIM:619100": "COILED-COIL DOMAIN-CONTAINING PROTEIN 25; CCDC25", "OMIM:619101": "MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4", "OMIM:619102": "SPERMATOGENIC FAILURE 47; SPGF47", "OMIM:619103": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB", "OMIM:619104": "RNA-BINDING MOTIF PROTEIN 47; RBM47", "OMIM:619105": "MICRO RNA 30E; MIR30E", "OMIM:619106": "PRRT3 ANTISENSE RNA 1, NONCODING; PRRT3AS1", "OMIM:619107": "SORTING NEXIN 33; SNX33", "OMIM:619108": "SPERMATOGENIC FAILURE 48; SPGF48", "OMIM:619109": "YIP1-INTERACTING FACTOR HOMOLOG B, MEMBRANE-TRAFFICKING PROTEIN; YIF1B", "OMIM:619110": "ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C", "OMIM:619111": "COACH SYNDROME 2; COACH2", "OMIM:619112": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13; HMND13", "OMIM:619113": "COACH SYNDROME 3; COACH3", "OMIM:619114": "SET AND MYND DOMAIN-CONTAINING PROTEIN 5; SMYD5", "OMIM:619115": "COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1", "OMIM:619116": "SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 9; SLC39A9", "OMIM:619117": "ADP-RIBOSYLATION FACTOR-LIKE GTPase 16; ARL16", "OMIM:619118": "ATPase 13A1; ATP13A1", "OMIM:619119": "ATPase 13A5; ATP13A5", "OMIM:619120": "COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2", "OMIM:619121": "NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB", "OMIM:619122": "VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO", "OMIM:619123": "CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS", "OMIM:619124": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89", "OMIM:619125": "KAYA-BARAKAT-MASSON SYNDROME; KABAMAS", "OMIM:619126": "IMMUNODEFICIENCY 75 WITH LYMPHOPROLIFERATION; IMD75", "OMIM:619127": "MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS", "OMIM:619128": "HYDROXYPYRUVATE ISOMERASE; HYI", "OMIM:619129": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 58; CFAP58", "OMIM:619130": "THROMBOCYTOPENIA 7; THC7", "OMIM:619131": "OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21", "OMIM:619132": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8", "OMIM:619133": "AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26", "OMIM:619134": "SET AND MYND DOMAIN-CONTAINING PROTEIN 4; SMYD4", "OMIM:619135": "RITSCHER-SCHINZEL SYNDROME 3; RTSC3", "OMIM:619136": "SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER A2; SLC37A2", "OMIM:619137": "SOLUTE CARRIER FAMILY 37, MEMBER A3; SLC37A3", "OMIM:619138": "NEDD4-BINDING PROTEIN 1; N4BP1", "OMIM:619139": "NEDD4-BINDING PROTEIN 2; N4BP2", "OMIM:619140": "NEDD4-BINDING PROTEIN 3; N4BP3", "OMIM:619141": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5", "OMIM:619142": "CARDIOACROFACIAL DYSPLASIA 1; CAFD1", "OMIM:619143": "CARDIOACROFACIAL DYSPLASIA 2; CAFD2", "OMIM:619144": "SPERMATOGENIC FAILURE 49; SPGF49", "OMIM:619145": "SPERMATOGENIC FAILURE 50; SPGF50", "OMIM:619146": "PREMATURE OVARIAN FAILURE 17; POF17", "OMIM:619147": "LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID", "OMIM:619148": "CHROMOSOME 13q33-q34 DELETION SYNDROME", "OMIM:619149": "LESSEL-KREIENKAMP SYNDROME; LESKRES", "OMIM:619150": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS", "OMIM:619151": "AMED SYNDROME, DIGENIC; AMEDS", "OMIM:619152": "TBC1 DOMAIN FAMILY, MEMBER 2B; TBC1D2B", "OMIM:619153": "SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, NAD+ TRANSPORTER), MEMBER 51; SLC25A51", "OMIM:619154": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 47; LRRC47", "OMIM:619155": "NEPHROTIC SYNDROME, TYPE 22; NPHS22", "OMIM:619156": "DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 4; DNAI4", "OMIM:619157": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE", "OMIM:619158": "PHOSPHATIDYLINOSITOL 3-KINASE-INTERACTING PROTEIN 1; PIK3IP1", "OMIM:619159": "CEA CELL ADHESION MOLECULE 4; CEACAM4", "OMIM:619160": "CEA CELL ADHESION MOLECULE 7; CEACAM7", "OMIM:619161": "CARPAL TUNNEL SYNDROME 2; CTS2", "OMIM:619162": "FORKHEAD BOX J2; FOXJ2", "OMIM:619163": "RING FINGER PROTEIN 130; RNF130", "OMIM:619164": "IMMUNODEFICIENCY 76; IMD76", "OMIM:619165": "OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8", "OMIM:619166": "MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2", "OMIM:619167": "MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3", "OMIM:619168": "TRANSMEMBRANE PROTEIN 109; TMEM109", "OMIM:619169": "GTP-BINDING PROTEIN 4; GTPBP4", "OMIM:619170": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36", "OMIM:619171": "GUANYLYL CYCLASE DOMAIN-CONTAINING PROTEIN 1; GUCD1", "OMIM:619172": "HERMANSKY-PUDLAK SYNDROME 11; HPS11", "OMIM:619173": "CEROID LIPOFUSCINOSIS, NEURONAL, 15; CLN15", "OMIM:619174": "DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117", "OMIM:619175": "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5", "OMIM:619176": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10; OZEMA10", "OMIM:619177": "SPERMATOGENIC FAILURE 51; SPGF51", "OMIM:619178": "MYOPATHY, MYOFIBRILLAR, 11; MFM11", "OMIM:619179": "MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26", "OMIM:619180": "MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27", "OMIM:619181": "FAMILY WITH SEQUENCE SIMILARITY 177, MEMBER A1; FAM177A1", "OMIM:619182": "GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS", "OMIM:619183": "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4", "OMIM:619184": "SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2", "OMIM:619185": "JOUBERT SYNDROME 37; JBTS37", "OMIM:619186": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 3; PLEKHM3", "OMIM:619187": "GALECTIN-RELATED INTERFIBER PROTEIN; GRIFIN", "OMIM:619188": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64", "OMIM:619189": "LI-CAMPEAU SYNDROME; LICAS", "OMIM:619190": "INTERACTOR OF HORMAD1 1; IHO1", "OMIM:619191": "EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12", "OMIM:619192": "SOLUTE CARRIER FAMILY 7, MEMBER 6 OPPOSITE STRAND; SLC7A6OS", "OMIM:619193": "TUBULIN TYROSINE LIGASE-LIKE 8; TTLL8", "OMIM:619194": "NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA", "OMIM:619195": "TUBULIN TYROSINE LIGASE-LIKE 3; TTLL3", "OMIM:619196": "DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE", "OMIM:619197": "EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT L; EIF3L", "OMIM:619198": "SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 4; SDHAF4", "OMIM:619199": "6-PHOSPHOGLUCONATE DEHYDROGENASE DEFICIENCY; PGDD", "OMIM:619200": "SORTING NEXIN FAMILY, MEMBER 21; SNX21", "OMIM:619201": "NEPHROTIC SYNDROME, TYPE 23; NPHS23", "OMIM:619202": "SPERMATOGENIC FAILURE 52; SPGF52", "OMIM:619203": "PREMATURE OVARIAN FAILURE 18; POF18", "OMIM:619204": "NUCLEOLAR PRE-rRNA-PROCESSING PROTEIN NIP7; NIP7", "OMIM:619205": "GROWTH HORMONE-INDUCIBLE TRANSMEMBRANE PROTEIN; GHITM", "OMIM:619206": "SCHWANNOMIN-INTERACTING PROTEIN 1; SCHIP1", "OMIM:619207": "INO80 COMPLEX, SUBUNIT D; INO80D", "OMIM:619208": "OLMSTED SYNDROME 2; OLMS2", "OMIM:619209": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7", "OMIM:619210": "HEPARAN SULFATE-GLUCOSAMINE 3-SULFOTRANSFERASE 6; HS3ST6", "OMIM:619211": "HIPPOCALCIN-LIKE 4; HPCAL4", "OMIM:619212": "IGF1R ANTISENSE IMPRINTED NONCODING RNA; IRAIN", "OMIM:619213": "ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 8; ZSWIM8", "OMIM:619214": "ZINC FINGER PROTEIN 639; ZNF639", "OMIM:619215": "OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN", "OMIM:619216": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7; HMNR7", "OMIM:619217": "ENDOVE SYNDROME, LIMB-ONLY TYPE; ENDOVESL", "OMIM:619218": "ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB", "OMIM:619219": "CHROMOSOME 2 OPEN READING FRAME 69; C2ORF69", "OMIM:619220": "IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78", "OMIM:619221": "SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD", "OMIM:619222": "SUPPRESSOR OF CANCER CELL INVASION; SCAI", "OMIM:619223": "IMMUNODEFICIENCY 77; IMD77", "OMIM:619224": "MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4", "OMIM:619225": "RIBOSOMAL PROTEIN L13A; RPL13A", "OMIM:619226": "BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA; ABOLM", "OMIM:619227": "VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL", "OMIM:619228": "DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA", "OMIM:619229": "DEN HOED-DE BOER-VOISIN SYNDROME; DHDBV", "OMIM:619230": "SIN3A-ASSOCIATED PROTEIN, 25-KD; SAP25", "OMIM:619231": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 4B; SAMD4B", "OMIM:619232": "HYPERCHOLANEMIA, FAMILIAL 3; FHCA3", "OMIM:619233": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 14; SAMD14", "OMIM:619234": "SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM", "OMIM:619235": "RIBONUCLEASE P/MRP SUBUNIT p25; RPP25", "OMIM:619236": "KIAA0408 GENE; KIAA0408", "OMIM:619237": "KIAA0232 GENE; KIAA0232", "OMIM:619238": "IMMUNODEFICIENCY 79; IMD79", "OMIM:619239": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS", "OMIM:619240": "GDP-D-GLUCOSE PHOSPHORYLASE 1; GDPGP1", "OMIM:619241": "JUPITER MICROTUBULE-ASSOCIATED HOMOLOG 2; JPT2", "OMIM:619242": "JUPITER MICROTUBULE-ASSOCIATED HOMOLOG 1; JPT1", "OMIM:619243": "GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA", "OMIM:619244": "NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD", "OMIM:619245": "PREMATURE OVARIAN FAILURE 19; POF19", "OMIM:619246": "SPEXIN HORMONE; SPX", "OMIM:619247": "SPINDLE- AND KINETOCHORE-ASSOCIATED COMPLEX, SUBUNIT 3; SKA3", "OMIM:619248": "VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED", "OMIM:619249": "COILED-COIL DOMAIN-CONTAINING PROTEIN 186; CCDC186", "OMIM:619250": "RUN DOMAIN-CONTAINING PROTEIN 1; RUNDC1", "OMIM:619251": "ACTIN-LIKE 9; ACTL9", "OMIM:619252": "BASIC LEUCINE ZIPPER DOMAIN- AND W2 DOMAIN-CONTAINING PROTEIN 1; BZW1", "OMIM:619253": "WSC DOMAIN-CONTAINING PROTEIN 2; WSCD2", "OMIM:619254": "ZINC FINGER PROTEIN 17; ZNF17", "OMIM:619255": "BARALLE-MACKEN SYNDROME; BARMACS", "OMIM:619256": "HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2", "OMIM:619257": "HR UPSTREAM OPEN READING FRAME; HRURF", "OMIM:619258": "SPERMATOGENIC FAILURE 53; SPGF53", "OMIM:619259": "NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA", "OMIM:619260": "SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA", "OMIM:619261": "KERATINOCYTE-ASSOCIATED PROTEIN 3; KRTCAP3", "OMIM:619262": "KELCH-LIKE 17; KLHL17", "OMIM:619263": "NEPHROTIC SYNDROME, TYPE 24; NPHS24", "OMIM:619264": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS", "OMIM:619265": "TRIPARTITE MOTIF-CONTAINING PROTEIN 52; TRIM52", "OMIM:619266": "TRIM52 ANTISENSE RNA 1, NONCODING; TRIM52AS1", "OMIM:619267": "GLANZMANN THROMBASTHENIA 2; GT2", "OMIM:619268": "ALZAHRANI-KUWAHARA SYNDROME; ALKUS", "OMIM:619269": "ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2", "OMIM:619270": "INTRAFLAGELLAR TRANSPORT-ASSOCIATED PROTEIN; IFTAP", "OMIM:619271": "BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24", "OMIM:619272": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37", "OMIM:619273": "CIMDAG SYNDROME; CIMDAG", "OMIM:619274": "DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80", "OMIM:619275": "BASIC LEUCINE ZIPPER DOMAIN- AND W2 DOMAIN-CONTAINING PROTEIN 2; BZW2", "OMIM:619276": "BREAK REPAIR MEIOTIC RECOMBINASE RECRUITMENT FACTOR 1; BRME1", "OMIM:619277": "CILIARY MICROTUBULE INNER PROTEIN 1; CIMIP1", "OMIM:619278": "MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2", "OMIM:619279": "PARKINSONISM WITH POLYNEUROPATHY; PKNPY", "OMIM:619280": "COILED-COIL DOMAIN-CONTAINING PROTEIN 59; CCDC59", "OMIM:619281": "IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B", "OMIM:619282": "FAMILY WITH SEQUENCE SIMILARITY 131, MEMBER B; FAM131B", "OMIM:619283": "RING FINGER PROTEIN 44; RNF44", "OMIM:619284": "ZINC FINGER RNA-BINDING PROTEIN 2; ZFR2", "OMIM:619285": "TRANSMEMBRANE PROTEIN 218; TMEM218", "OMIM:619286": "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC", "OMIM:619287": "COILED-COIL DOMAIN-CONTAINING PROTEIN 66; CCDC66", "OMIM:619288": "COILED-COIL DOMAIN-CONTAINING PROTEIN 69; CCDC69", "OMIM:619289": "ZINC FINGER PROTEIN 91, ATYPICAL E3 UBIQUITIN LIGASE; ZFP91", "OMIM:619290": "MAHVASH DISEASE; MVAH", "OMIM:619291": "DYSTONIA 30; DYT30", "OMIM:619292": "VPS9 DOMAIN-CONTAINING PROTEIN 1; VPS9D1", "OMIM:619293": "BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS", "OMIM:619294": "NIBAN APOPTOSIS REGULATOR 1; NIBAN1", "OMIM:619295": "ZINC FINGER DHHC-TYPE PALMITOYLTRANSFERASE 14; ZDHHC14", "OMIM:619296": "TESTIS-ASSOCIATED ONCOGENIC LONG NONCODING RNA; THORLNC", "OMIM:619297": "KINSSHIP SYNDROME; KINS", "OMIM:619298": "ZINC FINGER PROTEIN 777; ZNF777", "OMIM:619299": "ZINC FINGER PROTEIN 646; ZNF646", "OMIM:619300": "ZINC FINGER PROTEIN 394; ZNF394", "OMIM:619301": "PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14", "OMIM:619302": "PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15", "OMIM:619303": "PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E", "OMIM:619304": "PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F", "OMIM:619305": "TANDEM C2 DOMAINS PROTEIN, NUCLEAR; TC2N", "OMIM:619306": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH", "OMIM:619307": "MAGNESIUM TRANSPORTER MRS2; MRS2", "OMIM:619308": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1E; PPM1E", "OMIM:619309": "PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1F; PPM1F", "OMIM:619310": "LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21", "OMIM:619311": "HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS", "OMIM:619312": "RADIO-TARTAGLIA SYNDROME; RATARS", "OMIM:619313": "IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80", "OMIM:619314": "BURATTI-HAREL SYNDROME; BURHAS", "OMIM:619315": "SOLUTE CARRIER FAMILY 35, MEMBER E2B; SLC35E2B", "OMIM:619316": "TETRATRICOPEPTIDE REPEAT- AND ANKYRIN REPEAT-CONTAINING PROTEIN 1; TRANK1", "OMIM:619317": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B", "OMIM:619318": "OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN", "OMIM:619319": "LYMPHATIC MALFORMATION 9; LMPHM9", "OMIM:619320": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65", "OMIM:619321": "GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF", "OMIM:619322": "MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS", "OMIM:619323": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO", "OMIM:619324": "HYPERTRIGLYCERIDEMIA 2; HYTG2", "OMIM:619325": "COFFIN-SIRIS SYNDROME 12; CSS12", "OMIM:619326": "BDV SYNDROME; BDVS", "OMIM:619327": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 15; LRRC15", "OMIM:619328": "LEUKODYSTROPHY, HYPOMYELINATING, 22; HLD22", "OMIM:619329": "FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF", "OMIM:619330": "TatD DNase DOMAIN-CONTAINING PROTEIN 2; TATDN2", "OMIM:619331": "MTOR-ASSOCIATED PROTEIN, EAK7 HOMOLOG; MEAK7", "OMIM:619332": "LYSOSOMAL ENZYME TRAFFICKING FACTOR; LYSET", "OMIM:619333": "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM", "OMIM:619334": "ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6", "OMIM:619335": "GRANULE-ASSOCIATED RAC AND RHOG EFFECTOR 1; GARRE1", "OMIM:619336": "METAXIN 3; MTX3", "OMIM:619337": "NEUROMEDIN S; NMS", "OMIM:619338": "CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD", "OMIM:619339": "BARTSOCAS-PAPAS SYNDROME 2; BPS2", "OMIM:619340": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96", "OMIM:619341": "PRAJA RING FINGER UBIQUITIN LIGASE 2; PJA2", "OMIM:619342": "POST-GPI ATTACHMENT TO PROTEINS 6; PGAP6", "OMIM:619343": "CHROMOSOME 1p36 DELETION SYNDROME, PROXIMAL", "OMIM:619344": "PURKINJE CELL PROTEIN 2; PCP2", "OMIM:619345": "DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN", "OMIM:619346": "ADENOSINE DEAMINASE-LIKE PROTEIN; ADAL", "OMIM:619347": "COILED-COIL DOMAIN-CONTAINING PROTEIN 96; CCDC96", "OMIM:619348": "ANKYRIN REPEAT- AND LEM DOMAIN-CONTAINING PROTEIN 1; ANKLE1", "OMIM:619349": "COP9 SIGNALOSOME, SUBUNIT 9; COPS9", "OMIM:619350": "VISCERAL MYOPATHY 2; VSCM2", "OMIM:619351": "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2", "OMIM:619352": "ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS", "OMIM:619353": "PAR3 FAMILY CELL POLARITY REGULATOR, BETA; PARD3B", "OMIM:619354": "DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP", "OMIM:619355": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22", "OMIM:619356": "ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS", "OMIM:619357": "ADENYLATE KINASE 6; AK6", "OMIM:619358": "MICROTUBULE-ASSOCIATED SCAFFOLD PROTEIN 2; MTUS2", "OMIM:619359": "BONE MORPHOGENETIC PROTEIN/RETINOIC ACID-INDUCIBLE NEURAL-SPECIFIC PROTEIN 2; BRINP2", "OMIM:619360": "ANGIOEDEMA, HEREDITARY, 4; HAE4", "OMIM:619361": "ANGIOEDEMA, HEREDITARY, 5; HAE5", "OMIM:619362": "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3", "OMIM:619363": "ANGIOEDEMA, HEREDITARY, 6; HAE6", "OMIM:619364": "TatD DNase DOMAIN-CONTAINING PROTEIN 1; TATDN1", "OMIM:619365": "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4", "OMIM:619366": "ANGIOEDEMA, HEREDITARY, 7; HAE7", "OMIM:619367": "ANGIOEDEMA, HEREDITARY, 8; HAE8", "OMIM:619368": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 14; LRRC14", "OMIM:619369": "LYMPHATIC MALFORMATION 10; LMPHM10", "OMIM:619370": "KH DOMAIN-CONTAINING PROTEIN 4, PRE-mRNA SPLICING FACTOR; KHDC4", "OMIM:619371": "CARDIOMYOPATHY, DILATED, 2D; CMD2D", "OMIM:619372": "URB2 RIBOSOME BIOGENESIS HOMOLOG; URB2", "OMIM:619373": "NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES", "OMIM:619374": "IMMUNODEFICIENCY 81; IMD81", "OMIM:619375": "AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD", "OMIM:619376": "FAUNDES-BANKA SYNDROME; FABAS", "OMIM:619377": "OSTEOOTOHEPATOENTERIC SYNDROME; OOHE", "OMIM:619378": "SMALL NUCLEOLAR RNA, H/ACA BOX, 31; SNORA31", "OMIM:619379": "SPERMATOGENIC FAILURE 54; SPGF54", "OMIM:619380": "SPERMATOGENIC FAILURE 55; SPGF55", "OMIM:619381": "IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82", "OMIM:619382": "LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1; LHONAR1", "OMIM:619383": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA", "OMIM:619384": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 39; ZBTB39", "OMIM:619385": "ZINC FINGER PROTEIN 510; ZNF510", "OMIM:619386": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52", "OMIM:619387": "CILIOGENESIS-ASSOCIATED TTC17-INTERACTING PROTEIN; CATIP", "OMIM:619388": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 17; TTC17", "OMIM:619389": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29", "OMIM:619390": "COLLAGEN, TYPE XX, ALPHA-1; COL20A1", "OMIM:619391": "COILED-COIL DOMAIN-CONTAINING PROTEIN 157; CCDC157", "OMIM:619392": "CHROMOSOME 14 OPEN READING FRAME 180; C14ORF180", "OMIM:619393": "KELCH REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 2; KBTBD2", "OMIM:619394": "CARBONYL REDUCTASE 4; CBR4", "OMIM:619395": "MYELIN EXPRESSION FACTOR 2; MYEF2", "OMIM:619396": "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10; IIAE10", "OMIM:619397": "ZINC FINGER PROTEIN-LIKE 1; ZFPL1", "OMIM:619398": "INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31", "OMIM:619399": "TETRASPANIN 18; TSPAN18", "OMIM:619400": "VISCERAL LEIOMYOPATHY, AFRICAN DEGENERATIVE; ADL", "OMIM:619401": "LYMPHATIC MALFORMATION 11; LMPHM11", "OMIM:619402": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28", "OMIM:619403": "COLON CANCER-ASSOCIATED TRANSCRIPT 2, NONCODING; CCAT2", "OMIM:619404": "tRNA METHYLTRANSFERASE 61B; TRMT61B", "OMIM:619405": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30", "OMIM:619406": "HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD", "OMIM:619407": "WHIM SYNDROME 2; WHIMS2", "OMIM:619408": "TRIPARTITE MOTIF-CONTAINING PROTEIN 65; TRIM65", "OMIM:619409": "TRANSLOCATOR PROTEIN 2; TSPO2", "OMIM:619410": "TUBULIN TYROSINE LIGASE-LIKE 12; TTLL12", "OMIM:619411": "SIGNAL PEPTIDASE COMPLEX, SUBUNIT 2; SPCS2", "OMIM:619412": "SEC14-LIKE LIPID-BINDING PROTEIN 5; SEC14L5", "OMIM:619413": "COILED-COIL DOMAIN-CONTAINING PROTEIN 144A; CCDC144A", "OMIM:619414": "MITOCHONDRIAL FISSION REGULATOR 1; MTFR1", "OMIM:619415": "TAU TUBULIN KINASE 1; TTBK1", "OMIM:619416": "TRIPARTITE MOTIF-CONTAINING PROTEIN 60; TRIM60", "OMIM:619417": "TRIPARTITE MOTIF-CONTAINING PROTEIN 61; TRIM61", "OMIM:619418": "NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2", "OMIM:619419": "NAC-ALPHA DOMAIN-CONTAINING PROTEIN; NACAD", "OMIM:619420": "MARTSOLF SYNDROME 2; MARTS2", "OMIM:619421": "DYNACTIN-ASSOCIATED PROTEIN; DYNAP", "OMIM:619422": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31", "OMIM:619423": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53", "OMIM:619424": "MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12", "OMIM:619425": "MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B", "OMIM:619426": "WHITE-KERNOHAN SYNDROME; WHIKERS", "OMIM:619427": "ZINC FINGER PROTEIN 410; ZNF410", "OMIM:619428": "FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS", "OMIM:619429": "TRANSMEMBRANE AND COILED-COIL DOMAIN FAMILY, MEMBER 2; TMCC2", "OMIM:619430": "SERINE PEPTIDASE INHIBITOR, KUNITZ-TYPE, 4; SPINT4", "OMIM:619431": "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5", "OMIM:619432": "N-ALPHA-ACETYLTRANSFERASE 11, NatA CATALYTIC SUBUNIT; NAA11", "OMIM:619433": "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6", "OMIM:619434": "SUN DOMAIN-CONTAINING OSSIFICATION FACTOR; SUCO", "OMIM:619435": "RITSCHER-SCHINZEL SYNDROME 4; RTSC4", "OMIM:619436": "CILIARY DYSKINESIA, PRIMARY, 46; CILD46", "OMIM:619437": "IMMUNODEFICIENCY 84; IMD84", "OMIM:619438": "N-ALPHA-ACETYLTRANSFERASE 35, NatC AUXILIARY SUBUNIT; NAA35", "OMIM:619439": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 6; PARP6", "OMIM:619440": "GLUTAMINE- AND SERINE-RICH PROTEIN 1; QSER1", "OMIM:619441": "ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11", "OMIM:619442": "TUB-LIKE PROTEIN 4; TULP4", "OMIM:619443": "MEIS HOMEOBOX 3; MEIS3", "OMIM:619444": "COILED-COIL DOMAIN-CONTAINING PROTEIN 7; CCDC7", "OMIM:619445": "DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12", "OMIM:619446": "RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID", "OMIM:619447": "FAMILY WITH SEQUENCE SIMILARITY 189, MEMBER B; FAM189B", "OMIM:619448": "STEROID RECEPTOR-ASSOCIATED AND -REGULATED PROTEIN; SRARP", "OMIM:619449": "RIBOSOMAL RNA-PROCESSING PROTEIN 7 HOMOLOG A; RRP7A", "OMIM:619450": "MICRO RNA 874; MIR874", "OMIM:619451": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E", "OMIM:619452": "ANENCEPHALY 2; ANPH2", "OMIM:619453": "MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28", "OMIM:619454": "RING FINGER PROTEIN 144A; RNF144A", "OMIM:619455": "SH3 AND PX DOMAINS-CONTAINING PROTEIN 2A; SH3PXD2A", "OMIM:619456": "CDC42 SMALL EFFECTOR 1; CDC42SE1", "OMIM:619457": "CDC42 SMALL EFFECTOR 2; CDC42SE2", "OMIM:619458": "METHYL-CpG-BINDING DOMAIN PROTEIN 6; MBD6", "OMIM:619459": "ZINC FINGER ZZ-TYPE DOMAIN- AND EF-HAND DOMAIN-CONTAINING PROTEIN 1; ZZEF1", "OMIM:619460": "LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM", "OMIM:619461": "MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B", "OMIM:619462": "HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED; HDFNRH", "OMIM:619463": "PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2", "OMIM:619464": "SICK SINUS SYNDROME 4; SSS4", "OMIM:619465": "VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2", "OMIM:619466": "CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47", "OMIM:619467": "USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD", "OMIM:619468": "NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2", "OMIM:619469": "TRANSMEMBRANE PROTEIN 222; TMEM222", "OMIM:619470": "NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA", "OMIM:619471": "BARDET-BIEDL SYNDROME 20; BBS20", "OMIM:619472": "VISS SYNDROME; VISS", "OMIM:619473": "OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3", "OMIM:619474": "R3H DOMAIN-CONTAINING PROTEIN 1; R3HDM1", "OMIM:619475": "DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA", "OMIM:619476": "JOUBERT SYNDROME 38; JBTS38", "OMIM:619477": "FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3", "OMIM:619478": "FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4", "OMIM:619479": "SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21", "OMIM:619480": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC", "OMIM:619481": "BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2", "OMIM:619482": "CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2", "OMIM:619483": "CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3", "OMIM:619484": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6", "OMIM:619485": "PAPPALYSIN 2; PAPPA2", "OMIM:619486": "AICARDI-GOUTIERES SYNDROME 8; AGS8", "OMIM:619487": "AICARDI-GOUTIERES SYNDROME 9; AGS9", "OMIM:619488": "DEGCAGS SYNDROME; DEGCAGS", "OMIM:619489": "SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA", "OMIM:619490": "LMBR1 DOMAIN-CONTAINING PROTEIN 2; LMBRD2", "OMIM:619491": "PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24", "OMIM:619492": "CARDIOMYOPATHY, DILATED, 2E; CMD2E", "OMIM:619493": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V", "OMIM:619494": "SMALL NUCLEOLAR RNA HOST GENE 11, NONCODING; SNHG11", "OMIM:619495": "ADAM METALLOPEPTIDASE DOMAIN-CONTAINING PROTEIN 18; ADAM18", "OMIM:619496": "ZINC FINGER PROTEIN 358; ZNF358", "OMIM:619497": "N-ALPHA-ACETYLTRANSFERASE 16, NatA AUXILIARY SUBUNIT; NAA16", "OMIM:619498": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 4; ZC3H4", "OMIM:619499": "ZINC FINGER PROTEIN 383; ZNF383", "OMIM:619500": "DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81", "OMIM:619501": "VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG", "OMIM:619502": "SPERM MICROTUBULE INNER PROTEIN 6; SPMIP6", "OMIM:619503": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF", "OMIM:619504": "CHOPRA-AMIEL-GORDON SYNDROME; CAGS", "OMIM:619505": "ZINC FINGER PROTEIN 431; ZNF431", "OMIM:619506": "ZINC FINGER PROTEIN 415; ZNF415", "OMIM:619507": "ZINC FINGER PROTEIN 425; ZNF425", "OMIM:619508": "ZINC FINGER PROTEIN 445; ZNF445", "OMIM:619509": "ZINC FINGER PROTEIN 418; ZNF418", "OMIM:619510": "IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85", "OMIM:619511": "ZINC FINGER PROTEIN 354C; ZNF354C", "OMIM:619512": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA", "OMIM:619513": "SWT1 RNA ENDORIBONUCLEASE HOMOLOG; SWT1", "OMIM:619514": "SHC-BINDING AND SPINDLE-ASSOCIATED PROTEIN 1-LIKE PROTEIN; SHCBP1L", "OMIM:619515": "SPERMATOGENIC FAILURE 56; SPGF56", "OMIM:619516": "BIFUNCTIONAL APOPTOSIS REGULATOR; BFAR", "OMIM:619517": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA", "OMIM:619518": "MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO", "OMIM:619519": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF", "OMIM:619520": "BOX H/ACA SMALL NUCLEOLAR RNA-ENDED LONG NONCODING RNA THAT ENHANCES PRE-rRNA TRANSCRIPTION; SLERT", "OMIM:619521": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18", "OMIM:619522": "NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC", "OMIM:619523": "ANEMIA, SIDEROBLASTIC, 5; SIDBA5", "OMIM:619524": "ZINC FINGER PROTEIN 764; ZNF764", "OMIM:619525": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W", "OMIM:619526": "ZINC FINGER PROTEIN 706; ZNF706", "OMIM:619527": "PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16", "OMIM:619528": "SPERMATOGENIC FAILURE 57; SPGF57", "OMIM:619529": "PARN-LIKE RIBONUCLEASE DOMAIN-CONTAINING EXONUCLEASE 1; PNLDC1", "OMIM:619530": "SOLUTE CARRIER FAMILY 35, MEMBER C2; SLC35C2", "OMIM:619531": "CONE-ROD DYSTROPHY 22; CORD22", "OMIM:619532": "ADENOSINE DEAMINASE DOMAIN-CONTAINING PROTEIN 2; ADAD2", "OMIM:619533": "RAD21 COHESIN COMPLEX COMPONENT-LIKE 1; RAD21L1", "OMIM:619534": "BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS", "OMIM:619535": "RING FINGER PROTEIN 115; RNF115", "OMIM:619536": "UBIQUITIN-SPECIFIC PEPTIDASE 31; USP31", "OMIM:619537": "ANGEL HOMOLOG 1; ANGEL1", "OMIM:619538": "CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4", "OMIM:619539": "NEUROOCULAR SYNDROME 1; NOC1", "OMIM:619540": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3E; PPP1R3E", "OMIM:619541": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3G; PPP1R3G", "OMIM:619542": "KING-DENBOROUGH SYNDROME; KDS", "OMIM:619543": "BOUDIN-MORTIER SYNDROME; BOMOS", "OMIM:619544": "PROLINE-RICH COILED-COIL PROTEIN 2B; PRRC2B", "OMIM:619545": "HYPOPLASTIC FEMURS AND PELVIS; HYPOFP", "OMIM:619546": "OLFACTORY RECEPTOR, FAMILY 10, SUBFAMILY J, MEMBER 5; OR10J5", "OMIM:619547": "RAB15, MEMBER RAS ONCOGENE FAMILY; RAB15", "OMIM:619548": "USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR", "OMIM:619549": "IMMUNODEFICIENCY 86; IMD86", "OMIM:619550": "RAB40B, MEMBER RAS ONCOGENE FAMILY; RAB40B", "OMIM:619551": "RAB40C, MEMBER RAS ONCOGENE FAMILY; RAB40C", "OMIM:619552": "MAGO HOMOLOG B, EXON JUNCTION COMPLEX SUBUNIT; MAGOHB", "OMIM:619553": "DEAFNESS, AUTOSOMAL RECESSIVE 118, WITH COCHLEAR APLASIA; DFNB118", "OMIM:619554": "MITOCHONDRIAL TRANSLATIONAL INITIATION FACTOR 3; MTIF3", "OMIM:619555": "EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A", "OMIM:619556": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD", "OMIM:619557": "SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA", "OMIM:619558": "RAB39A, MEMBER RAS ONCOGENE FAMILY; RAB39A", "OMIM:619559": "EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 14; EFCAB14", "OMIM:619560": "MICRO RNA 135B; MIR135B", "OMIM:619561": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97", "OMIM:619562": "JOUBERT SYNDROME 39; JBTS39", "OMIM:619563": "MICAL-LIKE PROTEIN 1; MICALL1", "OMIM:619564": "CALAXIN; CLXN", "OMIM:619565": "DYSTONIA 31; DYT31", "OMIM:619566": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27", "OMIM:619567": "EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 3; EFCAB3", "OMIM:619568": "ENDONUCLEASE DOMAIN-CONTAINING PROTEIN 1; ENDOD1", "OMIM:619569": "CHROMOSOME 9 OPEN READING FRAME 78; C9ORF78", "OMIM:619570": "UHRF1-BINDING PROTEIN 1; UHRF1BP1", "OMIM:619571": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 49; ANKRD49", "OMIM:619572": "MICRO RNA 15B; MIR15B", "OMIM:619573": "IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87", "OMIM:619574": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH", "OMIM:619575": "DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB", "OMIM:619576": "CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC", "OMIM:619577": "ZINC FINGER CCCH DOMAIN- AND G-PATCH DOMAIN-CONTAINING PROTEIN; ZGPAT", "OMIM:619578": "AFG2 AAA ATPase HOMOLOG B; AFG2B", "OMIM:619579": "KH DOMAIN- AND NYN DOMAIN-CONTAINING PROTEIN; KHNYN", "OMIM:619580": "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS", "OMIM:619581": "SOLUTE CARRIER FAMILY 45, MEMBER 4; SLC45A4", "OMIM:619582": "JOUBERT SYNDROME 40; JBTS40", "OMIM:619583": "EH DOMAIN-BINDING PROTEIN 1-LIKE 1; EHBP1L1", "OMIM:619584": "WSC DOMAIN-CONTAINING PROTEIN 1; WSCD1", "OMIM:619585": "SPERMATOGENIC FAILURE 58; SPGF58", "OMIM:619586": "TSPY-LIKE 4; TSPYL4", "OMIM:619587": "ZINC FINGER PROTEIN 629; ZNF629", "OMIM:619588": "EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B", "OMIM:619589": "BRAF-ACTIVATED NONCODING RNA; BANCR", "OMIM:619590": "PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 1; PLPPR1", "OMIM:619591": "PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 2; PLPPR2", "OMIM:619593": "CATARACT 49; CTRCT49", "OMIM:619594": "EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C", "OMIM:619595": "DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA", "OMIM:619596": "OCIA DOMAIN-CONTAINING PROTEIN 1; OCIAD1", "OMIM:619597": "tRNA SELENOCYSTEINE 1-ASSOCIATED PROTEIN 1; TRNAU1AP", "OMIM:619598": "RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE; RHZDAN", "OMIM:619599": "EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D", "OMIM:619600": "AMINOPEPTIDASE O; AOPEP", "OMIM:619601": "BCDIN3 DOMAIN-CONTAINING RNA METHYLTRANSFERASE; BCDIN3D", "OMIM:619602": "FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD", "OMIM:619603": "GALLOWAY-MOWAT SYNDROME 9; GAMOS9", "OMIM:619604": "TRANSMEMBRANE PROTEIN 92; TMEM92", "OMIM:619605": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98", "OMIM:619606": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99", "OMIM:619607": "HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10", "OMIM:619608": "HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11", "OMIM:619609": "GALLOWAY-MOWAT SYNDROME 10; GAMOS10", "OMIM:619610": "KINESIN FAMILY MEMBER 19; KIF19", "OMIM:619611": "INTERSTITIAL LUNG DISEASE 1; ILD1", "OMIM:619612": "B-CELL RECEPTOR-ASSOCIATED PROTEIN 29; BCAP29", "OMIM:619613": "DELAYED PUBERTY, SELF-LIMITED; DPSL", "OMIM:619614": "RETINITIS PIGMENTOSA 92; RP92", "OMIM:619615": "DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119", "OMIM:619616": "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS", "OMIM:619617": "EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 2; EFCAB2", "OMIM:619618": "LY6/PLAUR DOMAIN-CONTAINING PROTEIN 5; LYPD5", "OMIM:619619": "SERPIN FAMILY A, MEMBER 11; SERPINA11", "OMIM:619620": "CHYMOTRYPSINOGEN B2; CTRB2", "OMIM:619621": "SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84", "OMIM:619622": "LYMPHOCYTE TRANSMEMBRANE ADAPTOR 1; LAX1", "OMIM:619623": "LEUCINE-RICH REPEAT NEURONAL PROTEIN 1; LRRN1", "OMIM:619624": "LEMUR TYROSINE KINASE 3; LMTK3", "OMIM:619625": "CHROMOSOME 11 OPEN READING FRAME 58; C11ORF58", "OMIM:619626": "METHYLTRANSFERASE 4, N6-ADENOSINE; METTL4", "OMIM:619627": "HEAT REPEAT-CONTAINING PROTEIN 5B; HEATR5B", "OMIM:619628": "AFTIPHILIN; AFTPH", "OMIM:619629": "SMALL NUCLEAR RIBONUCLEOPROTEIN U4/U6.U5, SUBUNIT 27; SNRNP27", "OMIM:619630": "IMMUNODEFICIENCY 88; IMD88", "OMIM:619631": "SMALL NUCLEAR RIBONUCLEOPROTEIN U11/U12, SUBUNIT 35; SNRNP35", "OMIM:619632": "IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89", "OMIM:619633": "OCIA DOMAIN-CONTAINING PROTEIN 2; OCIAD2", "OMIM:619634": "O-SIALOGLYCOPROTEIN ENDOPEPTIDASE-LIKE 1; OSGEPL1", "OMIM:619635": "ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 19; ZFYVE19", "OMIM:619636": "ACROMESOMELIC DYSPLASIA 4; AMD4", "OMIM:619637": "DYSTONIA 32; DYT32", "OMIM:619638": "SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP", "OMIM:619639": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS", "OMIM:619640": "LYSINE DEMETHYLASE 7A; KDM7A", "OMIM:619641": "HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS", "OMIM:619642": "TRANSMEMBRANE p24 TRAFFICKING PROTEIN 2; TMED2", "OMIM:619643": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11; OZEMA11", "OMIM:619644": "IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91", "OMIM:619645": "SPERMATOGENIC FAILURE 59; SPGF59", "OMIM:619646": "SPERMATOGENIC FAILURE 60; SPGF60", "OMIM:619647": "DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR", "OMIM:619648": "ZAKI SYNDROME; ZKS", "OMIM:619649": "CHROMOSOME 16q12 DUPLICATION SYNDROME", "OMIM:619650": "VHL-LIKE PROTEIN; VHLL", "OMIM:619651": "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD", "OMIM:619652": "IMMUNODEFICIENCY 92; IMD92", "OMIM:619653": "NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO", "OMIM:619654": "CHROMOSOME 3 OPEN READING FRAME 33; C3ORF33", "OMIM:619655": "RIBOSOMAL PROTEIN L10-LIKE; RPL10L", "OMIM:619656": "LOEYS-DIETZ SYNDROME 6; LDS6", "OMIM:619657": "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8", "OMIM:619658": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7", "OMIM:619659": "SYNAPTOSOME-ASSOCIATED PROTEIN 47; SNAP47", "OMIM:619660": "BCL2-LIKE 15; BCL2L15", "OMIM:619661": "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2", "OMIM:619662": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8", "OMIM:619663": "UTP25 SMALL SUBUNIT PROCESSOR COMPONENT; UTP25", "OMIM:619664": "EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 6; EFCAB6", "OMIM:619665": "OVARIAN DYSGENESIS 9; ODG9", "OMIM:619666": "VILLIN-LIKE PROTEIN; VILL", "OMIM:619667": "SOLUTE CARRIER FAMILY 35, MEMBER F6; SLC35F6", "OMIM:619668": "DEOXYRIBOSE-PHOSPHATE ALDOLASE; DERA", "OMIM:619669": "PIERCER OF MICROTUBULE WALL 2; PIERCE2", "OMIM:619670": "ALK AND LTK LIGAND 1; ALKAL1", "OMIM:619671": "ALK AND LTK LIGAND 2; ALKAL2", "OMIM:619672": "SPERMATOGENIC FAILURE 61; SPGF61", "OMIM:619673": "SPERMATOGENIC FAILURE 62; SPGF62", "OMIM:619674": "PROTEASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1; PRADC1", "OMIM:619675": "U-BOX DOMAIN-CONTAINING PROTEIN 5; UBOX5", "OMIM:619676": "SPERM MICROTUBULE INNER PROTEIN 9; SPMIP9", "OMIM:619677": "CLAUDIN DOMAIN-CONTAINING PROTEIN 1; CLDND1", "OMIM:619678": "CHROMOSOME 22 OPEN READING FRAME 23; C22ORF23", "OMIM:619679": "TSSK6-ACTIVATING COCHAPERONE; TSACC", "OMIM:619680": "MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS", "OMIM:619681": "DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG", "OMIM:619682": "ALL-TRANS RETINOIC ACID-INDUCED DIFFERENTIATION FACTOR; ATRAID", "OMIM:619683": "B-BOX- AND SPRY DOMAIN-CONTAINING PROTEIN; BSPRY", "OMIM:619684": "MITOCHONDRIA-LOCALIZED GLUTAMIC ACID-RICH PROTEIN; MGARP", "OMIM:619685": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC", "OMIM:619686": "SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85", "OMIM:619687": "DYSTONIA 33; DYT33", "OMIM:619688": "LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23", "OMIM:619689": "SPERMATOGENIC FAILURE 63; SPGF63", "OMIM:619690": "BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG", "OMIM:619691": "TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8", "OMIM:619692": "TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9", "OMIM:619693": "AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9", "OMIM:619694": "DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA", "OMIM:619695": "RAUCH-STEINDL SYNDROME; RAUST", "OMIM:619696": "SPERMATOGENIC FAILURE 64; SPGF64", "OMIM:619697": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12; OZEMA12", "OMIM:619698": "MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10", "OMIM:619699": "FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON", "OMIM:619700": "CILIATED LEFT-RIGHT ORGANIZER PROTEIN CONTAINING ZP-N DOMAINS; CIROZ", "OMIM:619701": "YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN", "OMIM:619702": "HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12", "OMIM:619703": "CILIATED LEFT-RIGHT ORGANIZER METALLOPEPTIDASE; CIROP", "OMIM:619704": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 15; ZC3H15", "OMIM:619705": "IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93", "OMIM:619706": "LEUCINE-RICH REPEAT NEURONAL PROTEIN 4; LRRN4", "OMIM:619707": "AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10", "OMIM:619708": "GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2", "OMIM:619709": "KIAA0930 GENE; KIAA0930", "OMIM:619710": "HYALURONAN AND PROTEOGLYCAN LINK PROTEIN 4; HAPLN4", "OMIM:619711": "CHROMOSOME 19 OPEN READING FRAME 33; C19ORF33", "OMIM:619712": "SPERMATOGENIC FAILURE 65; SPGF65", "OMIM:619713": "CADHERIN-RELATED FAMILY, MEMBER 2; CDHR2", "OMIM:619714": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD", "OMIM:619715": "WIZ ZINC FINGER PROTEIN; WIZ", "OMIM:619716": "ACTIN-RELATED PROTEIN 8; ACTR8", "OMIM:619717": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73", "OMIM:619718": "HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26", "OMIM:619719": "INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS", "OMIM:619720": "BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1", "OMIM:619721": "BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2", "OMIM:619722": "TRANSMEMBRANE PROTEIN 53; TMEM53", "OMIM:619723": "SERINE CARBOXYPEPTIDASE 1; SCPEP1", "OMIM:619724": "DYSTONIA 34, MYOCLONIC; DYT34", "OMIM:619725": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB", "OMIM:619726": "HYALURONAN AND PROTEOGLYCAN LINK PROTEIN 2; HAPLN2", "OMIM:619727": "CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI", "OMIM:619728": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 4, N-ACYL PHOSPHOLIPASE B; ABHD4", "OMIM:619729": "ACTIN-RELATED PROTEIN 6; ACTR6", "OMIM:619730": "ACTIN-RELATED PROTEIN 5; ACTR5", "OMIM:619731": "ACTIN-RELATED PROTEIN 10; ACTR10", "OMIM:619732": "2-PHOSPHOXYLOSE PHOSPHATASE 1; PXYLP1", "OMIM:619733": "INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA", "OMIM:619734": "EPENDYMIN-RELATED PROTEIN 1; EPDR1", "OMIM:619735": "SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86", "OMIM:619736": "TEEBI HYPERTELORISM SYNDROME 2; TBHS2", "OMIM:619737": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54", "OMIM:619738": "PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3", "OMIM:619739": "ASPARAGINE SYNTHETASE DOMAIN-CONTAINING PROTEIN 1; ASNSD1", "OMIM:619740": "ASNSD1 UPSTREAM OPEN READING FRAME; ASDURF", "OMIM:619741": "ZINC FINGER, MATRIN-TYPE 5; ZMAT5", "OMIM:619742": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I", "OMIM:619743": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55", "OMIM:619744": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 17; ZCCHC17", "OMIM:619745": "NOONAN SYNDROME 14; NS14", "OMIM:619746": "ZINC FINGER C3HC-TYPE DOMAIN-CONTAINING PROTEIN 1; ZC3HC1", "OMIM:619747": "CARDIOMYOPATHY, DILATED, 2F; CMD2F", "OMIM:619748": "LEUCINE-RICH REPEAT NEURONAL PROTEIN 3; LRRN3", "OMIM:619749": "VEZATIN, ADHERENS JUNCTIONS TRANSMEMBRANE PROTEIN; VEZT", "OMIM:619750": "IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94", "OMIM:619751": "STUVE-WIEDEMANN SYNDROME 2; STWS2", "OMIM:619752": "HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES4A", "OMIM:619753": "PYM HOMOLOG 1, EXON JUNCTION COMPLEX-ASSOCIATED FACTOR; PYM1", "OMIM:619754": "YIP1 DOMAIN FAMILY, MEMBER 7; YIPF7", "OMIM:619755": "HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27", "OMIM:619756": "UBIQUITIN-CONJUGATING ENZYME E2 J2; UBE2J2", "OMIM:619757": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 15; ASB15", "OMIM:619758": "TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEBIVANED1", "OMIM:619759": "TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEBIVANED2", "OMIM:619760": "ATP23 METALLOPEPTIDASE AND ATP SYNTHASE ASSEMBLY FACTOR HOMOLOG; ATP23", "OMIM:619761": "CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH", "OMIM:619762": "KURY-ISIDOR SYNDROME; KURIS", "OMIM:619763": "WD AND TETRATRICOPEPTIDE REPEATS PROTEIN 1; WDTC1", "OMIM:619764": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H", "OMIM:619765": "CRYSTALLIN BETA-GAMMA DOMAIN-CONTAINING PROTEIN 2; CRYBG2", "OMIM:619766": "YLP MOTIF-CONTAINING PROTEIN 1; YLPM1", "OMIM:619767": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6; PFBMFT6", "OMIM:619768": "ARRESTIN DOMAIN-CONTAINING PROTEIN 1; ARRDC1", "OMIM:619769": "MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH", "OMIM:619770": "YDJC CHITOOLIGOSACCHARIDE DEACETYLASE HOMOLOG; YDJC", "OMIM:619771": "VRK SERINE/THREONINE KINASE 3; VRK3", "OMIM:619772": "PROTEASOMAL ATPase-ASSOCIATED FACTOR 1; PAAF1", "OMIM:619773": "IMMUNODEFICIENCY 95; IMD95", "OMIM:619774": "IMMUNODEFICIENCY 96; IMD96", "OMIM:619775": "CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2", "OMIM:619776": "C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 6; C2CD6", "OMIM:619777": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100", "OMIM:619778": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 42; ANKRD42", "OMIM:619779": "AFAP1 ANTISENSE RNA 1, NONCODING; AFAP1AS1", "OMIM:619780": "MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20", "OMIM:619781": "MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28", "OMIM:619782": "SPERM ACROSOME DEVELOPMENTAL REGULATOR; SPACDR", "OMIM:619783": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE; JEB2A", "OMIM:619784": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B", "OMIM:619785": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A", "OMIM:619786": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B", "OMIM:619787": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4", "OMIM:619788": "ARRESTIN DOMAIN-CONTAINING PROTEIN 4; ARRDC4", "OMIM:619789": "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B", "OMIM:619790": "OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4", "OMIM:619791": "ATPase, PHOSPHOLIPID-TRANSPORTING, 10B; ATP10B", "OMIM:619792": "ATP SYNTHASE MEMBRANE SUBUNIT F; ATP5MF", "OMIM:619793": "RESTRICTIVE DERMOPATHY 2; RSDM2", "OMIM:619794": "VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2-LIKE; VWC2L", "OMIM:619795": "OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22", "OMIM:619796": "FLAGELLUM-ASSOCIATED PROTEIN CONTAINING COILED-COIL DOMAINS 1; FLACC1", "OMIM:619797": "NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF", "OMIM:619798": "E74-LIKE ETS TRANSCRIPTION FACTOR 2; ELF2", "OMIM:619799": "SPERMATOGENIC FAILURE 66; SPGF66", "OMIM:619800": "HMG BOX-CONTAINING PROTEIN 3; HMGXB3", "OMIM:619801": "RNA POLYMERASE III, SUBUNIT H; POLR3H", "OMIM:619802": "IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97", "OMIM:619803": "SPERMATOGENIC FAILURE 67; SPGF67", "OMIM:619804": "DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82", "OMIM:619805": "SPERMATOGENIC FAILURE 68; SPGF68", "OMIM:619806": "SPINOCEREBELLAR ATAXIA 49; SCA49", "OMIM:619807": "MYOSIN-BINDING PROTEIN H-LIKE; MYBPHL", "OMIM:619808": "DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83", "OMIM:619809": "UDP GLUCURONOSYLTRANSFERASE FAMILY 2, MEMBER A2; UGT2A2", "OMIM:619810": "DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84", "OMIM:619811": "UHRF1-BINDING PROTEIN 1-LIKE; UHRF1BP1L", "OMIM:619812": "BLOOD GROUP, EMM SYSTEM; EMM", "OMIM:619813": "NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9", "OMIM:619814": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101", "OMIM:619815": "ATPase, PHOSPHOLIPID-TRANSPORTING, 10D; ATP10D", "OMIM:619816": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A", "OMIM:619817": "EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6", "OMIM:619818": "ELONGATION FACTOR 1; ELOF1", "OMIM:619819": "ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 7A; ZC3H7A", "OMIM:619820": "ATONAL bHLH TRANSCRIPTION FACTOR 8; ATOH8", "OMIM:619821": "ENDONUCLEASE V; ENDOV", "OMIM:619822": "BCL2-LIKE 13; BCL2L13", "OMIM:619823": "ACIDIC NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER B; ANP32B", "OMIM:619824": "AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B", "OMIM:619825": "AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12", "OMIM:619826": "SPERMATOGENIC FAILURE 69; SPGF69", "OMIM:619827": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75", "OMIM:619828": "SPERMATOGENIC FAILURE 70; SPGF70", "OMIM:619829": "COILED-COIL DOMAIN-CONTAINING PROTEIN 146; CCDC146", "OMIM:619830": "DEVELOPING BRAIN HOMEOBOX 1; DBX1", "OMIM:619831": "SPERMATOGENIC FAILURE 71; SPGF71", "OMIM:619832": "AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3", "OMIM:619833": "NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES; NEDNMS", "OMIM:619834": "OVARIAN DYSGENESIS 10; ODG10", "OMIM:619835": "3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A", "OMIM:619836": "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE", "OMIM:619837": "MORN REPEAT-CONTAINING PROTEIN 5; MORN5", "OMIM:619838": "TUBULIN TYROSINE LIGASE-LIKE 9; TTLL9", "OMIM:619839": "SORTING NEXIN 31; SNX31", "OMIM:619840": "MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT; MACTHC2", "OMIM:619841": "CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; CHOCNS", "OMIM:619842": "RHO FAMILY-INTERACTING CELL POLARIZATION REGULATOR 1; RIPOR1", "OMIM:619843": "DENN DOMAIN-CONTAINING PROTEIN 4B; DENND4B", "OMIM:619844": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY; IDDPN", "OMIM:619845": "RETINITIS PIGMENTOSA 93; RP93", "OMIM:619846": "IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS; IMD99", "OMIM:619847": "NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY; CONPM", "OMIM:619848": "TBCC DOMAIN-CONTAINING PROTEIN 1; TBCCD1", "OMIM:619849": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9; PFIC9", "OMIM:619850": "ALPHA-1,3-GALACTOSYLTRANSFERASE 2; A3GALT2", "OMIM:619851": "LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24", "OMIM:619852": "GOLGI-ASSOCIATED RAB2 INTERACTOR FAMILY, MEMBER 4; GARIN4", "OMIM:619853": "FATTY ACID HYDROXYLASE DOMAIN-CONTAINING PROTEIN 2; FAXDC2", "OMIM:619854": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; NEDHISB", "OMIM:619855": "THYROID HORMONE METABOLISM, ABNORMAL, 2; THMA2", "OMIM:619856": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 50; ANKRD50", "OMIM:619857": "SPERMATOGENESIS-ASSOCIATED PROTEIN 3; SPATA3", "OMIM:619858": "AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME; AIPCS", "OMIM:619859": "PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY; PAICSD", "OMIM:619860": "DCSTAMP DOMAIN-CONTAINING PROTEIN 1; DCST1", "OMIM:619861": "DCSTAMP DOMAIN-CONTAINING PROTEIN 1; DCST2", "OMIM:619862": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32; SCAR32", "OMIM:619863": "JUNCTOPHILIN 4; JPH4", "OMIM:619864": "LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING; CORLK", "OMIM:619865": "TRANSMEMBRANE PROTEIN 14B; TMEM14B", "OMIM:619866": "CFAP97 DOMAIN-CONTAINING PROTEIN 1; CFAP97D1", "OMIM:619867": "SPERMATOGENIC FAILURE 72; SPGF72", "OMIM:619868": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10; PFIC10", "OMIM:619869": "NEUROCARDIOFACIODIGITAL SYNDROME; NCFD", "OMIM:619870": "COILED-COIL DOMAIN-CONTAINING PROTEIN 82; CCDC82", "OMIM:619871": "CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET; PPPCD", "OMIM:619872": "IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC); IMD101", "OMIM:619873": "PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME; PMNDS", "OMIM:619874": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11; PFIC11", "OMIM:619875": "SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B7; SLCO1B7", "OMIM:619876": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES; NEDMHS", "OMIM:619877": "DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME; DENNED", "OMIM:619878": "SPERMATOGENIC FAILURE 73; SPGF73", "OMIM:619879": "MECKEL SYNDROME 14; MKS14", "OMIM:619880": "NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES; NEDGS", "OMIM:619881": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102; DEE102", "OMIM:619882": "tRNA YW-SYNTHESIZING PROTEIN 5; TYW5", "OMIM:619883": "GOLGI-ASSOCIATED RAB2B INTERACTOR FAMILY, MEMBER 3; GARIN3", "OMIM:619884": "OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY; OPDD", "OMIM:619885": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 39A; TTC39A", "OMIM:619886": "R3H DOMAIN-CONTAINING PROTEIN 2; R3HDM2", "OMIM:619887": "RENAL HYPODYSPLASIA/APLASIA 4; RHDA4", "OMIM:619888": "GASTRIC CARCINOMA PROLIFERATION-ENHANCING TRANSCRIPT 1, NONCODING; GHET1", "OMIM:619889": "T-COMPLEX PROTEIN 11-LIKE 2; TCP11L2", "OMIM:619890": "GOLGI-ASSOCIATED RAB2 INTERACTOR 5A; GARIN5A", "OMIM:619891": "WD REPEAT-CONTAINING PROTEIN 93; WDR93", "OMIM:619892": "ZINC FINGER ZZ-TYPE DOMAIN-CONTAINING PROTEIN 3; ZZZ3", "OMIM:619893": "KELCH-LIKE FAMILY, MEMBER 25; KLHL25", "OMIM:619894": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 15; ABHD15", "OMIM:619895": "HOLOPROSENCEPHALY 14; HPE14", "OMIM:619896": "MICROTUBULE-ASSOCIATED TYROSINE CARBOXYPEPTIDASE 2; MATCAP2", "OMIM:619897": "CARDIOMYOPATHY, DILATED, 2G; CMD2G", "OMIM:619898": "GOLGI-ASSOCIATED RAB2 INTERACTOR FAMILY, MEMBER 2; GARIN2", "OMIM:619899": "NALCN CHANNEL AUXILIARY FACTOR 1; NALF1", "OMIM:619900": "KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 3; KDELR3", "OMIM:619901": "EUKARYOTIC TRANSLATION INITIATION FACTOR 1; EIF1", "OMIM:619902": "HEPATORENOCARDIAC DEGENERATIVE FIBROSIS; HRCDF", "OMIM:619903": "PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE; COMNB", "OMIM:619904": "GOLGI-ASSOCIATED RAB2 INTERACTOR 1A; GARIN1A", "OMIM:619905": "GOLGI-ASSOCIATED RAB2 INTERACTOR 1B; GARIN1B", "OMIM:619906": "DExD-BOX HELICASE 39A; DDX39A", "OMIM:619907": "PHD FINGER PROTEIN 14; PHF14", "OMIM:619908": "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES; NEDLDS", "OMIM:619909": "PONTOCEREBELLAR HYPOPLASIA, TYPE 17; PCH17", "OMIM:619910": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66; MRD66", "OMIM:619911": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM; IDLDP", "OMIM:619912": "MYOMIXER; MYMX", "OMIM:619913": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103; DEE103", "OMIM:619914": "SEL1L FAMILY, MEMBER 3; SEL1L3", "OMIM:619915": "RNA-BINDING MOTIF PROTEIN 34; RBM34", "OMIM:619916": "ZINC FINGER PROTEIN 799; ZNF799", "OMIM:619917": "SUSHI DOMAIN-CONTAINING PROTEIN 5; SUSD5", "OMIM:619918": "TUBULIN, ALPHA-3E; TUBA3E", "OMIM:619919": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 38; ARHGEF38", "OMIM:619920": "ANKYRIN REPEAT- AND DEATH DOMAIN-CONTAINING PROTEIN 1B; ANKDD1B", "OMIM:619921": "DYSTONIA 35, CHILDHOOD-ONSET; DYT35", "OMIM:619922": "NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES; NEDDS", "OMIM:619923": "PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 36; PPP1R36", "OMIM:619924": "IMMUNODEFICIENCY 105, SEVERE COMBINED; IMD105", "OMIM:619925": "WASH COMPLEX, SUBUNIT 3; WASHC3", "OMIM:619926": "KELCH-LIKE FAMILY, MEMBER 18; KLHL18", "OMIM:619927": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67; MRD67", "OMIM:619928": "PHD FINGER PROTEIN 24; PHF24", "OMIM:619929": "TESTIS-EXPRESSED GENE 2; TEX2", "OMIM:619930": "ZINC FINGER, MATRIN-TYPE 2; ZMAT2", "OMIM:619931": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76; MRT76", "OMIM:619932": "GLUCOSE-FRUCTOSE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; GFOD1", "OMIM:619933": "GLUCOSE-FRUCTOSE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 2; GFOD2", "OMIM:619934": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68; MRD68", "OMIM:619935": "IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD106", "OMIM:619936": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 17; ASB17", "OMIM:619937": "SPERMATOGENIC FAILURE 74; SPGF74", "OMIM:619938": "PREMATURE OVARIAN FAILURE 20; POF20", "OMIM:619939": "OLFACTORY RECEPTOR, FAMILY 4, SUBFAMILY M, MEMBER 1; OR4M1", "OMIM:619940": "XK-RELATED PROTEIN 8; XKR8", "OMIM:619941": "CAREY-FINEMAN-ZITER SYNDROME 2; CFZS2", "OMIM:619942": "ZINC FINGER PROTEIN 541; ZNF541", "OMIM:619943": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 19; KCTD19", "OMIM:619944": "COILED-COIL SERINE-RICH PROTEIN 2; CCSER2", "OMIM:619945": "FAMILY WITH SEQUENCE SIMILARITY 184, MEMBER B; FAM184B", "OMIM:619946": "MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE-LIKE 2; MCF2L2", "OMIM:619947": "WAARDENBURG SYNDROME, TYPE 2F; WS2F", "OMIM:619948": "INTERACTION PROTEIN FOR CYTOHESIN EXCHANGE FACTORS 1; IPCEF1", "OMIM:619949": "SPERMATOGENIC FAILURE 75; SPGF75", "OMIM:619950": "TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3; TEBIVANED3", "OMIM:619951": "TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4; TEBIVANED4", "OMIM:619952": "TRANSMEMBRANE PROTEIN 63B; TMEM63B", "OMIM:619953": "TRANSMEMBRANE PROTEIN 63C; TMEM63C", "OMIM:619954": "SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1-LIKE; SYCE1L", "OMIM:619955": "DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME; DWOPNED", "OMIM:619956": "PIGY UPSTREAM OPEN READING FRAME; PYURF", "OMIM:619957": "ATTENTION DEFICIT-HYPERACTIVITY DISORDER 8; ADHD8", "OMIM:619958": "GLYCOSYLATED LYSOSOMAL MEMBRANE PROTEIN; GLMP", "OMIM:619959": "ACCES SYNDROME; ACCES", "OMIM:619960": "RAB5-INTERACTING FACTOR; RAB5IF", "OMIM:619961": "FORKHEAD BOX B1; FOXB1", "OMIM:619962": "FORKHEAD BOX B2; FOXB2", "OMIM:619963": "ANOCTAMIN 9; ANO9", "OMIM:619964": "DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES; DEDISB", "OMIM:619965": "ALPHA KINASE 2; ALPK2", "OMIM:619966": "SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE; SPG87", "OMIM:619967": "CONGENITAL MYOPATHY 11; CMYO11", "OMIM:619968": "ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 4; ACBD4", "OMIM:619969": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 47; ZBTB47", "OMIM:619970": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104; DEE104", "OMIM:619971": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY; NEDEBA", "OMIM:619972": "NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY; NEDMLHB", "OMIM:619973": "DNAJ/HSP40 HEAT-SHOCK PROTEIN FAMILY, MEMBER C16; DNAJC16", "OMIM:619974": "ESPIN-LIKE PROTEIN; ESPNL", "OMIM:619975": "TUMOR PREDISPOSITION SYNDROME 2; TPDS2", "OMIM:619976": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 1; MFSD1", "OMIM:619977": "MACULAR DYSTROPHY, RETINAL, 4; MCDR4", "OMIM:619978": "MICROTUBULE-ASSOCIATED TYROSINE CARBOXYPEPTIDASE 1; MATCAP1", "OMIM:619979": "CHROMOSOME 18 OPEN READING FRAME 32; C18ORF32", "OMIM:619980": "BRADDOCK-CAREY SYNDROME 1; BRDCS1", "OMIM:619981": "BRADDOCK-CAREY SYNDROME 2; BRDCS2", "OMIM:619982": "VIM ANTISENSE RNA 1; VIMAS1", "OMIM:619983": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM; DEE105", "OMIM:619984": "NUCLEAR PORE COMPLEX-INTERACTING PROTEIN FAMILY, MEMBER B3; NPIPB3", "OMIM:619985": "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25; GPIBD25", "OMIM:619986": "IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION; IMD107", "OMIM:619987": "NOTCH-REGULATED ANKYRIN REPEAT-CONTAINING PROTEIN; NRARP", "OMIM:619988": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77; MRT77", "OMIM:619989": "NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES; NEDSOA", "OMIM:619990": "TRANSMEMBRANE p24 TRAFFICKING PROTEIN 7; TMED7", "OMIM:619991": "LIVER DISEASE, SEVERE CONGENITAL; SCOLIV", "OMIM:619992": "CHROMOSOME 3 OPEN READING FRAME 20; C3ORF20", "OMIM:619993": "PROLINE-RICH TRANSMEMBRANE PROTEIN 3; PRRT3", "OMIM:619994": "DYNEIN LIGHT CHAIN, TCTEX-TYPE FAMILY, MEMBER 5; DYNLT5", "OMIM:619995": "NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES; NEDITPO", "OMIM:619996": "ARGININE- AND SERINE-RICH COILED-COIL PROTEIN 2; RSRC2", "OMIM:619997": "SOLUTE CARRIER FAMILY 35, MEMBER F5; SLC35F5", "OMIM:619998": "NUCLEOPORIN 42; NUP42", "OMIM:619999": "N-ALPHA-ACETYLTRANSFERASE 40, NatD CATALYTIC SUBUNIT; NAA40", "OMIM:620000": "TRANSMEMBRANE PROTEIN 167A; TMEM167A", "OMIM:620001": "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES; NEDSSBA", "OMIM:620002": "CHROMOSOME 5 OPEN READING FRAME 47; C5ORF47", "OMIM:620003": "TBC1 DOMAIN FAMILY, MEMBER 12; TBC1D12", "OMIM:620004": "NMRA-LIKE REDOX SENSOR 1; NMRAL1", "OMIM:620005": "PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME; PDIL", "OMIM:620006": "RAD54-LIKE 2; RAD54L2", "OMIM:620007": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS; IDDMDS", "OMIM:620008": "H2A.Z VARIANT HISTONE 2; H2AZ2", "OMIM:620009": "KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE; KDIDAR", "OMIM:620010": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12; PFIC12", "OMIM:620011": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6; HMNR6", "OMIM:620012": "DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE; DEDHIL", "OMIM:620013": "RIBOSOMAL RNA-PROCESSING 9, U3 SMALL NUCLEOLAR RNA-BINDING PROTEIN; RRP9", "OMIM:620014": "LYMPHATIC MALFORMATION 12; LMPHM12", "OMIM:620015": "ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4; FASPS4", "OMIM:620016": "MAX DIMERIZATION PROTEIN 4; MXD4", "OMIM:620017": "NURIM; NRM", "OMIM:620018": "PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 4; PDIA4", "OMIM:620019": "ARTHROGRYPOSIS, DISTAL, TYPE 11; DA11", "OMIM:620020": "G3BP STRESS GRANULE ASSEMBLY FACTOR 2; G3BP2", "OMIM:620021": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES; IDDADF", "OMIM:620022": "STICKLER SYNDROME, TYPE VI; STL6", "OMIM:620023": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES; NEDMIMS", "OMIM:620024": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES; NEDSMBA", "OMIM:620025": "DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS; DIH4", "OMIM:620026": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 1; ZSCAN1", "OMIM:620027": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY; NEDMISS", "OMIM:620028": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106; DEE106", "OMIM:620029": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES; NEDHLSS", "OMIM:620030": "ARGININE- AND SERINE-RICH PROTEIN 1; RSRP1", "OMIM:620031": "POLYHOMEOTIC HOMOLOG 3; PHC3", "OMIM:620032": "CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS; CILD48", "OMIM:620033": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107; DEE107", "OMIM:620034": "NIPA-LIKE DOMAIN-CONTAINING PROTEIN 3; NIPAL3", "OMIM:620035": "SMAD5 ANTISENSE RNA 1, NONCODING; SMAD5AS1", "OMIM:620036": "IMMEDIATE-EARLY RESPONSE GENE 2; IER2", "OMIM:620037": "FAMILY WITH SEQUENCE SIMILARITY 193, MEMBER A; FAM193A", "OMIM:620038": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE; NEDMHAL", "OMIM:620039": "POGO TRANSPOSABLE ELEMENT-DERIVED PROTEIN WITH KRAB DOMAIN; POGK", "OMIM:620040": "DYSKERATOSIS CONGENITA, DIGENIC; DKCD", "OMIM:620041": "5-PRIME-NUCLEOTIDASE, CYTOSOLIC IIIB; NT5C3B", "OMIM:620042": "PHYTANOYL-CoA DIOXYGENASE DOMAIN-CONTAINING PROTEIN 1; PHYHD1", "OMIM:620043": "RETINOL DEHYDROGENASE 16; RDH16", "OMIM:620044": "BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME; BMFDMS", "OMIM:620045": "INTESTINAL DYSMOTILITY SYNDROME; IDMTS", "OMIM:620046": "PROFILIN FAMILY, MEMBER 4; PFN4", "OMIM:620047": "MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE; MCPH29", "OMIM:620048": "RETENTION IN ENDOPLASMIC RETICULUM SORTING RECEPTOR 1; RER1", "OMIM:620049": "NEPHROTIC SYNDROME, TYPE 26; NPHS26", "OMIM:620050": "PHD FINGER PROTEIN 20-LIKE 1; PHF20L1", "OMIM:620051": "RING FINGER PROTEIN 41, E3 UBIQUITIN PROTEIN LIGASE; RNF41", "OMIM:620052": "ENDOSOMAL TRANSMEMBRANE EPSIN INTERACTOR 2; ENTREP2", "OMIM:620053": "LONG INTERGENIC NONCODING RNA 974; LINC00974", "OMIM:620054": "PHD FINGER PROTEIN 13; PHF13", "OMIM:620055": "PWP1 HOMOLOG, ENDONUCLEIN; PWP1", "OMIM:620056": "POLYCYSTIC KIDNEY DISEASE 7; PKD7", "OMIM:620057": "PHD FINGER PROTEIN 7; PHF7", "OMIM:620058": "FAMILIAL APOLIPOPROTEIN GENE CLUSTER DELETION SYNDROME", "OMIM:620059": "LONG INTERGENIC NONCODING RNA 472; LINC00472", "OMIM:620060": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 7B; TTC7B", "OMIM:620061": "CDK2-ASSOCIATED PROTEIN 2; CDK2AP2", "OMIM:620062": "DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2; DEDSSH2", "OMIM:620063": "DNA POLYMERASE ALPHA-2, ACCESSORY SUBUNIT; POLA2", "OMIM:620064": "OXOEICOSANOID RECEPTOR 1; OXER1", "OMIM:620065": "DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS; DEDBANP", "OMIM:620066": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT; NEDMVIC", "OMIM:620067": "CARDIAC VALVULAR DYSPLASIA 2; CVDP2", "OMIM:620068": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II; CMT2II", "OMIM:620069": "ANKYRIN REPEAT- AND IBR DOMAIN-CONTAINING PROTEIN 1; ANKIB1", "OMIM:620070": "NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES; NEDSFF", "OMIM:620071": "BIRK-AHARONI SYNDROME; BKAH", "OMIM:620072": "DIAMOND-BLACKFAN ANEMIA 21; DBA21", "OMIM:620073": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES; NEDDFSB", "OMIM:620074": "LTV1 RIBOSOME BIOGENESIS FACTOR; LTV1", "OMIM:620075": "NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY; NEDFLPH", "OMIM:620076": "BENT BONE DYSPLASIA SYNDROME 2; BBDS2", "OMIM:620077": "PROTEIN-L-ISOASPARTATE (D-ASPARTATE) O-METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 2; PCMTD2", "OMIM:620078": "FAMILY WITH SEQUENCE SIMILARITY 168, MEMBER B; FAM168B", "OMIM:620079": "LONG INTERGENIC NONCODING RNA 467; LINC00467", "OMIM:620080": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10; HMND10", "OMIM:620081": "RNA-BINDING MOTIF PROTEIN 26; RBM26", "OMIM:620082": "RNA-BINDING MOTIF PROTEIN 27; RBM27", "OMIM:620083": "NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS; NEDCDS", "OMIM:620084": "SPERMATOGENIC FAILURE 76; SPGF76", "OMIM:620085": "HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2; HUMOP2", "OMIM:620086": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES; IDDOF", "OMIM:620087": "DDB1- AND CUL4-ASSOCIATED FACTOR 12; DCAF12", "OMIM:620088": "WWC2 ANTISENSE RNA 1, NONCODING; WWC2AS1", "OMIM:620089": "NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION; CONDMIM", "OMIM:620090": "ZINC FINGER PROTEIN 675; ZNF675", "OMIM:620091": "PROTEIN-L-ISOASPARTATE (D-ASPARTATE) O-METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; PCMTD1", "OMIM:620092": "MIER FAMILY, MEMBER 2; MIER2", "OMIM:620093": "ACTIN MATURATION PROTEASE; ACTMAP", "OMIM:620094": "NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA; NEDEMA", "OMIM:620095": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 2; ZCCHC2", "OMIM:620096": "RING FINGER PROTEIN 185; RNF185", "OMIM:620097": "PHOSPHOLIPASE B DOMAIN CONTAINING 2; PLBD2", "OMIM:620098": "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES; DIDDF", "OMIM:620099": "CLEIDOCRANIAL DYSPLASIA 2; CLCD2", "OMIM:620100": "MIER FAMILY, MEMBER 3; MIER3", "OMIM:620101": "RAS HOMOLOG FAMILY, MEMBER V; RHOV", "OMIM:620102": "RETINITIS PIGMENTOSA 95; RP95", "OMIM:620103": "SPERMATOGENIC FAILURE 77; SPGF77", "OMIM:620104": "AMELOGENESIS IMPERFECTA, TYPE IK; AI1K", "OMIM:620105": "C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER F; CLEC4F", "OMIM:620106": "SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT; SPG88", "OMIM:620107": "OROFACIODIGITAL SYNDROME XIX; OFD19", "OMIM:620108": "TRANSMEMBRANE PROTEIN 151A; TMEM151A", "OMIM:620109": "DDB1- AND CUL4-ASSOCIATED FACTOR 15; DCAF15", "OMIM:620110": "WW AND C2 DOMAINS-CONTAINING PROTEIN 2; WWC2", "OMIM:620111": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J; CMT1J", "OMIM:620112": "APOA1 ANTISENSE RNA, NONCODING; APOA1AS", "OMIM:620113": "NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES; NEDGFC", "OMIM:620114": "NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES; NEDSIS", "OMIM:620115": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108; DEE108", "OMIM:620116": "FATTY LIVER DISEASE, PROTECTION FROM; FLDP", "OMIM:620117": "MICRO RNA 887; MIR887", "OMIM:620118": "ZINC FINGER PROTEIN 490; ZNF490", "OMIM:620119": "LONG NONCODING RNA CRYBG3", "OMIM:620120": "DENN DOMAIN-CONTAINING PROTEIN 2A; DENND2A", "OMIM:620121": "IRON OVERLOAD, SUSCEPTIBILITY TO; IO", "OMIM:620122": "DENN DOMAIN-CONTAINING PROTEIN 11; DENND11", "OMIM:620123": "FIBROSIN-LIKE 1; FBRSL1", "OMIM:620124": "ZINC FINGER PROTEIN 492; ZNF492", "OMIM:620125": "PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE; PHA1B2", "OMIM:620126": "PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE; PHA1B3", "OMIM:620127": "MICRO RNA 151A; MIR151A", "OMIM:620128": "FOLLISTATIN-LIKE 5; FSTL5", "OMIM:620129": "NYN DOMAIN- AND RETROVIRAL INTEGRASE-CONTAINING PROTEIN; NYNRIN", "OMIM:620130": "OUTER DENSE FIBER OF SPERM TAILS 2-LIKE PROTEIN; ODF2L", "OMIM:620131": "DEFENSIN, BETA, 126; DEFB126", "OMIM:620132": "ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 5; ZSWIM5", "OMIM:620133": "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8; DKCB8", "OMIM:620134": "PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G1; PLEKHG1", "OMIM:620135": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39; MC1DN39", "OMIM:620136": "NUDC DOMAIN-CONTAINING PROTEIN 2; NUDCD2", "OMIM:620137": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11; MC3DN11", "OMIM:620138": "MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 1; MMCKR1", "OMIM:620139": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56; COXPD56", "OMIM:620140": "SYNCOLLIN; SYCN", "OMIM:620141": "DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES; DEVLO", "OMIM:620142": "CENTROSOMAL AT-AC SPLICING FACTOR; CENATAC", "OMIM:620143": "TRANSMEMBRANE PROTEIN 232; TMEM232", "OMIM:620144": "CACHE DOMAIN-CONTAINING PROTEIN 1; CACHD1", "OMIM:620145": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109; DEE109", "OMIM:620146": "CRYSTALLIN BETA-GAMMA DOMAIN-CONTAINING PROTEIN 3; CRYBG3", "OMIM:620147": "RNA-BINDING MOTIF PROTEIN 46; RBM46", "OMIM:620148": "ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2; AEI2", "OMIM:620149": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110; DEE110", "OMIM:620150": "EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT; EHK2A", "OMIM:620151": "WOLMAN DISEASE; WOLD", "OMIM:620152": "HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY; HOMG7", "OMIM:620153": "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4; MVA4", "OMIM:620154": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13; OZEMA13", "OMIM:620155": "RABIN-PAPPAS SYNDROME; RAPAS", "OMIM:620156": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11; CDCBM11", "OMIM:620157": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70; MRD70", "OMIM:620158": "SPINOCEREBELLAR ATAXIA 50; SCA50", "OMIM:620159": "PNMA FAMILY, MEMBER 8B; PNMA8B", "OMIM:620160": "IQ MOTIF-CONTAINING PROTEIN N; IQCN", "OMIM:620161": "CONGENITAL MYOPATHY 15; CMYO15", "OMIM:620162": "ZINC FINGER PROTEIN 471; ZNF471", "OMIM:620163": "ZFP14 ZINC FINGER PROTEIN; ZFP14", "OMIM:620164": "ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 26; ZBTB26", "OMIM:620165": "LEUCINE-RICH REPEATS- AND CALPONIN HOMOLOGY DOMAIN-CONTAINING PROTEIN 4; LRCH4", "OMIM:620166": "MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES; MYOS", "OMIM:620167": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57; COXPD57", "OMIM:620168": "ATOS HOMOLOG A; ATOSA", "OMIM:620169": "ATOS HOMOLOG B; ATOSB", "OMIM:620170": "SPERMATOGENIC FAILURE 78; SPGF78", "OMIM:620171": "NHS-LIKE PROTEIN 1; NHSL1", "OMIM:620172": "NACHT DOMAIN- AND WD REPEAT-CONTAINING PROTEIN 2; NWD2", "OMIM:620173": "TOOTH AGENESIS, SELECTIVE, 10; STHAG10", "OMIM:620174": "SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET; SCA27B", "OMIM:620175": "RUBICON-LIKE AUTOPHAGY ENHANCER; RUBCNL", "OMIM:620176": "DEAD-BOX HELICASE 55; DDX55", "OMIM:620177": "HYPOTRICHOSIS 15; HYPT15", "OMIM:620178": "GRAM DOMAIN-CONTAINING PROTEIN 1A; GRAMD1A", "OMIM:620179": "GRAM DOMAIN-CONTAINING PROTEIN 1B; GRAMD1B", "OMIM:620180": "GRAM DOMAIN-CONTAINING PROTEIN 1C; GRAMD1C", "OMIM:620181": "GRAM DOMAIN-CONTAINING PROTEIN 2A; GRAMD2A", "OMIM:620182": "GRAM DOMAIN-CONTAINING PROTEIN 2B; GRAMD2B", "OMIM:620183": "MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE; MCPH30", "OMIM:620184": "ATELIS SYNDROME 1; ATELS1", "OMIM:620185": "ATELIS SYNDROME 2; ATELS2", "OMIM:620186": "BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME; BCAHH", "OMIM:620187": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 74; CFAP74", "OMIM:620188": "TRANSPORT AND GOLGI ORGANIZATION 6 HOMOLOG; TANGO6", "OMIM:620189": "MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION; MVA7", "OMIM:620190": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 16B; ABHD16B", "OMIM:620191": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES; NEDHFS", "OMIM:620192": "LACRIMOAURICULODENTODIGITAL SYNDROME 2; LADD2", "OMIM:620193": "LACRIMOAURICULODENTODIGITAL SYNDROME 3; LADD3", "OMIM:620194": "NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES; NEDGEF", "OMIM:620195": "OBESITY AND HYPOPIGMENTATION; OBHP", "OMIM:620196": "SPERMATOGENIC FAILURE 79; SPGF79", "OMIM:620197": "CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS; CILD49", "OMIM:620198": "THYROID HORMONE METABOLISM, ABNORMAL, 3; THMA3", "OMIM:620199": "INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES; IPHAK", "OMIM:620200": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy; CDG2Y", "OMIM:620201": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz; CDG2Z", "OMIM:620202": "VESICLE AMINE TRANSPORT PROTEIN 1-LIKE; VAT1L", "OMIM:620203": "CARDIOMYOPATHY, DILATED, 2H; CMD2H", "OMIM:620204": "RNA, U12 SMALL NUCLEAR; RNU12", "OMIM:620205": "INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR-INTERACTING PROTEIN; ITPRIP", "OMIM:620206": "STERILE ALPHA MOTIF-DOMAIN CONTAINING PROTEIN 1; SAMD1", "OMIM:620207": "BLOOD GROUP, ER; ER", "OMIM:620208": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33; SCAR33", "OMIM:620209": "HECT DOMAIN E3 UBIQUITIN PROTEIN LIGASE 4; HECTD4", "OMIM:620210": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA; NEDFIH", "OMIM:620211": "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8; HHF8", "OMIM:620212": "SH3 DOMAIN-BINDING KINASE 1; SBK1", "OMIM:620213": "SANT AND BTB DOMAIN REGULATOR OF CSR; SANBR", "OMIM:620214": "HHIP-LIKE 2; HHIPL2", "OMIM:620215": "MEMBRANE INTEGRAL NOTCH2-ASSOCIATED RECEPTOR 2; MINAR2", "OMIM:620216": "SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 9; SLC5A9", "OMIM:620217": "CENTROSOMAL PROTEIN, 44-KD; CEP44", "OMIM:620218": "SHISA-LIKE 2A; SHISAL2A", "OMIM:620219": "SHISA-LIKE 2B; SHISAL2B", "OMIM:620220": "SHISA-LIKE 1; SHISAL1", "OMIM:620221": "SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA; SPG79A", "OMIM:620222": "SPERMATOGENIC FAILURE 80; SPGF80", "OMIM:620223": "EXTRACELLULAR LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 2; ELFN2", "OMIM:620224": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES; NEDFSS", "OMIM:620225": "SUPPRESSOR OF GLUCOSE, AUTOPHAGY-ASSOCIATED PROTEIN 1; SOGA1", "OMIM:620226": "UBIQUITIN-SPECIFIC PEPTIDASE 37; USP37", "OMIM:620227": "DEAFNESS, AUTOSOMAL DOMINANT 85; DFNA85", "OMIM:620228": "RETINITIS PIGMENTOSA 96; RP96", "OMIM:620229": "FHF COMPLEX SUBUNIT HOOK-INTERACTING PROTEIN 1B; FHIP1B", "OMIM:620230": "FHF COMPLEX SUBUNIT HOOK-INTERACTING PROTEIN 2B; FHIP2B", "OMIM:620231": "SHORT QT SYNDROME 7; SQT7", "OMIM:620232": "JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA; JCOSL", "OMIM:620233": "RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA; RIFTD", "OMIM:620234": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 24; ANKRD24", "OMIM:620235": "RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1; RHABDO1", "OMIM:620236": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES; CMH29", "OMIM:620237": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78; MRT78", "OMIM:620238": "DEAFNESS, AUTOSOMAL RECESSIVE 120; DFNB120", "OMIM:620239": "BETA-1,3-GALACTOSYLTRANSFERASE 9; B3GALT9", "OMIM:620240": "DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES; DEDHMB", "OMIM:620241": "HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO; HYC5", "OMIM:620242": "NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES; NEDGBA", "OMIM:620243": "LEUKODYSTROPHY, HYPOMYELINATING, 25; HLD25", "OMIM:620244": "LYMPHATIC MALFORMATION 13; LMPHM13", "OMIM:620245": "EPISODIC KINESIGENIC DYSKINESIA 3; EKD3", "OMIM:620246": "CONGENITAL MYOPATHY 18; CMYO18", "OMIM:620247": "CARDIOMYOPATHY, DILATED, 1OO; CMD1OO", "OMIM:620248": "TRANSMEMBRANE PROTEIN 80; TMEM80", "OMIM:620249": "CONGENITAL MYOPATHY 10B, MILD VARIANT; CMYO10B", "OMIM:620250": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM; NEDSSCC", "OMIM:620251": "CENTROSOMAL PROTEIN 170B; CEP170B", "OMIM:620252": "TRANSMEMBRANE PROTEIN 245; TMEM245", "OMIM:620253": "CATARACT 50 WITH OR WITHOUT GLAUCOMA; CTRCT50", "OMIM:620254": "RING FINGER PROTEIN, TRANSMEMBRANE 2; RNFT2", "OMIM:620255": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 13A; MFSD13A", "OMIM:620256": "CLARIN 3; CLRN3", "OMIM:620257": "TRANSMEMBRANE PROTEIN 158; TMEM158", "OMIM:620258": "TRANSMEMBRANE PROTEIN 160; TMEM160", "OMIM:620259": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 18A; ANKRD18A", "OMIM:620260": "TRANSMEMBRANE PROTEIN 132B; TMEM132B", "OMIM:620261": "ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 6; EMC6", "OMIM:620262": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 36; ANKRD36", "OMIM:620263": "OOCYTE-SECRETED PROTEIN 2; OOSP2", "OMIM:620264": "POST-GPI ATTACHMENT TO PROTEINS, GalNAc TRANSFERASE, 4; PGAP4", "OMIM:620265": "CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE; CMYO2B", "OMIM:620266": "RAB7A-INTERACTING MON1-CCZ1 COMPLEX SUBUNIT 1; RIMOC1", "OMIM:620267": "REGULATOR OF MON1-CCZ1; RMC1", "OMIM:620268": "FH2 DOMAIN-CONTAINING PROTEIN 1; FHDC1", "OMIM:620269": "LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA; HLD26", "OMIM:620270": "NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES; NEDSMB", "OMIM:620271": "TRANSMEMBRANE PROTEIN 41B; TMEM41B", "OMIM:620272": "TRANSMEMBRANE PROTEIN 235; TMEM235", "OMIM:620273": "ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 3; EMC3", "OMIM:620274": "WD REPEAT-CONTAINING PROTEIN 87; WDR87", "OMIM:620275": "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23; MC4DN23", "OMIM:620276": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14; OZEMA14", "OMIM:620277": "SPERMATOGENIC FAILURE 81; SPGF81", "OMIM:620278": "CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT; CMYO2C", "OMIM:620279": "DYNEIN ASSEMBLY FACTOR WITH WD REPEATS 1; DAW1", "OMIM:620280": "DEAFNESS, AUTOSOMAL DOMINANT 86; DFNA86", "OMIM:620281": "DEAFNESS, AUTOSOMAL DOMINANT 87; DFNA87", "OMIM:620282": "IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION; IMD109", "OMIM:620283": "DEAFNESS, AUTOSOMAL DOMINANT 88; DFNA88", "OMIM:620284": "DEAFNESS, AUTOSOMAL DOMINANT 89; DFNA89", "OMIM:620285": "AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE; ALS27", "OMIM:620286": "MYOPATHY, SARCOPLASMIC BODY; MYOSB", "OMIM:620287": "TRANSMEMBRANE PROTEIN 71; TMEM71", "OMIM:620288": "TRANSMEMBRANE EPIDIDYMAL PROTEIN 1; TEDDM1", "OMIM:620289": "TRANSMEMBRANE PROTEIN 234; TMEM234", "OMIM:620290": "TRANSMEMBRANE PROTEIN 219; TMEM219", "OMIM:620291": "WD REPEAT-CONTAINING PROTEIN 18; WDR18", "OMIM:620292": "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES; NEDLBAS", "OMIM:620293": "TMEM9 DOMAIN FAMILY, MEMBER B; TMEM9B", "OMIM:620294": "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9; CHTD9", "OMIM:620295": "DDB1- AND CUL4-ASSOCIATED FACTOR 10; DCAF10", "OMIM:620296": "AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS; AIPCV", "OMIM:620297": "SOLUTE CARRIER FAMILY 35, MEMBER A4; SLC35A4", "OMIM:620298": "SOLUTE CARRIER FAMILY 35, MEMBER A5; SLC35A5", "OMIM:620299": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 4A; MFSD4A", "OMIM:620300": "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2; MTPD2", "OMIM:620301": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 9; MFSD9", "OMIM:620302": "WD REPEAT-CONTAINING PROTEIN 76; WDR76", "OMIM:620303": "PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8; CPHD8", "OMIM:620304": "NUCLEOLAR PROTEIN 9; NOL9", "OMIM:620305": "NEUROOCULORENAL SYNDROME; NORS", "OMIM:620306": "NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT; NSCT", "OMIM:620307": "WD REPEAT-CONTAINING PROTEIN 24; WDR24", "OMIM:620308": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 3; MFSD3", "OMIM:620309": "FAMILY WITH SEQUENCE SIMILARITY 171, MEMBER B; FAM171B", "OMIM:620310": "CONGENITAL MYOPATHY 20; CMYO20", "OMIM:620311": "PREMATURE OVARIAN FAILURE 21; POF21", "OMIM:620312": "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2; VWM2", "OMIM:620313": "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3; VWM3", "OMIM:620314": "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4; VWM4", "OMIM:620315": "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5; VWM5", "OMIM:620316": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12; CDCBM12", "OMIM:620317": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES; NEDMSBA", "OMIM:620318": "SOLUTE CARRIER FAMILY 49, MEMBER 3; SLC49A3", "OMIM:620319": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17; OZEMA17", "OMIM:620320": "HEMATURIA, BENIGN FAMILIAL, 2; BFH2", "OMIM:620321": "C1q DEFICIENCY 2; C1QD2", "OMIM:620322": "C1q DEFICIENCY 3; C1QD3", "OMIM:620323": "SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE; SPG70", "OMIM:620324": "SOLUTE CARRIER FAMILY 15, MEMBER 5; SLC15A5", "OMIM:620325": "TRANSMEMBRANE PROTEIN 144; TMEM144", "OMIM:620326": "CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE; CMYO21", "OMIM:620327": "NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES; NDDRSB", "OMIM:620328": "SOLUTE CARRIER FAMILY 44, MEMBER 3; SLC44A3", "OMIM:620329": "SOLUTE CARRIER FAMILY 44, MEMBER 5; SLC44A5", "OMIM:620330": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES; MRD71", "OMIM:620331": "HATIPOGLU IMMUNODEFICIENCY SYNDROME; HATIS", "OMIM:620332": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18; OZEMA18", "OMIM:620333": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19; OZEMA19", "OMIM:620334": "TRIPARTITE MOTIF-CONTAINING PROTEIN 42; TRIM42", "OMIM:620335": "CELL DIVISION CYCLE 20B; CDC20B", "OMIM:620336": "ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 3; ZSWIM3", "OMIM:620337": "SOLUTE CARRIER FAMILY 35, MEMBER E1; SLC35E1", "OMIM:620338": "SOLUTE CARRIER FAMILY 9, MEMBER C2; SLC9C2", "OMIM:620339": "SOLUTE CARRIER FAMILY 23, MEMBER 3; SLC23A3", "OMIM:620340": "NIPA-LIKE DOMAIN-CONTAINING PROTEIN 1; NIPAL1", "OMIM:620341": "WD REPEAT-CONTAINING PROTEIN 75; WDR75", "OMIM:620342": "CONE-ROD DYSTROPHY 24; CORD24", "OMIM:620343": "BASAL CELL NEVUS SYNDROME 2; BCNS2", "OMIM:620344": "PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2; PERRS2", "OMIM:620345": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 5; MFSD5", "OMIM:620346": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 11; MFSD11", "OMIM:620347": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 14A; MFSD14A", "OMIM:620348": "MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 14B; MFSD14B", "OMIM:620349": "SOLUTE CARRIER FAMILY 35, MEMBER F1; SLC35F1", "OMIM:620350": "SOLUTE CARRIER FAMILY 35, MEMBER F2; SLC35F2", "OMIM:620351": "CONGENITAL MYOPATHY 22A, CLASSIC; CMYO22A", "OMIM:620352": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B; DEE31B", "OMIM:620353": "SPERMATOGENIC FAILURE 82; SPGF82", "OMIM:620354": "SPERMATOGENIC FAILURE 83; SPGF83", "OMIM:620355": "SOLUTE CARRIER FAMILY 35, MEMBER E3; SLC35E3", "OMIM:620356": "CILIARY DYSKINESIA, PRIMARY, 50; CILD50", "OMIM:620357": "DIARRHEA 13; DIAR13", "OMIM:620358": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A; MC5DN4A", "OMIM:620359": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7; MC5DN7", "OMIM:620360": "TETRAPEPTIDE REPEAT HOMEOBOX 2; TPRX2", "OMIM:620361": "RNA, U5D SMALL NUCLEAR 1; RNU5D-1", "OMIM:620362": "RNA, U5E SMALL NUCLEAR 1; RNU5E-1", "OMIM:620363": "RNA, U5F SMALL NUCLEAR 1; RNU5F-1", "OMIM:620364": "COMBINED LOW LDL AND FIBRINOGEN; CLDLFIB", "OMIM:620365": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7; PFBMFT7", "OMIM:620366": "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9; OPTB9", "OMIM:620367": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8; PFBMFT8", "OMIM:620368": "CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3; CRMCC3", "OMIM:620369": "CONGENITAL MYOPATHY 22B, SEVERE FETAL; CMYO22B", "OMIM:620370": "RECON PROGEROID SYNDROME; RECON", "OMIM:620371": "NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY; NEDIHSS", "OMIM:620372": "HYPERSULFATURIA; HYSULF", "OMIM:620373": "ADIPOSE-SECRETED SIGNALING PROTEIN; ADISSP", "OMIM:620374": "NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS; CAON2", "OMIM:620375": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28; LGMDR28", "OMIM:620376": "AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS; SAIDV", "OMIM:620377": "ARMADILLO REPEAT-CONTAINING PROTEIN 12; ARMC12", "OMIM:620378": "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; CMTDIA", "OMIM:620379": "SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE; SPG89", "OMIM:620380": "LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 2; LETM2", "OMIM:620381": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 61; CFAP61", "OMIM:620382": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 9; ZCCHC9", "OMIM:620383": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20; OZEMA20", "OMIM:620384": "AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2; AUNA2", "OMIM:620385": "ARMADILLO REPEAT-CONTAINING PROTEIN 1; ARMC1", "OMIM:620386": "NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET; NEM5B", "OMIM:620387": "TBC1 DOMAIN FAMILY, MEMBER 21; TBC1D21", "OMIM:620388": "DYSBINDIN DOMAIN-CONTAINING PROTEIN 1; DBNDD1", "OMIM:620389": "NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT; NEM5C", "OMIM:620390": "HEAT REPEAT-CONTAINING PROTEIN 1; HEATR1", "OMIM:620391": "POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 16; PARP16", "OMIM:620392": "ACTIN-BINDING TRANSCRIPTION MODULATOR; ABITRAM", "OMIM:620393": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79; MRT79", "OMIM:620394": "PROTEIN SERINE KINASE H2; PSKH2", "OMIM:620395": "CYCLIN J; CCNJ", "OMIM:620396": "CYCLIN P; CCNP", "OMIM:620397": "AURORA KINASE A- AND NINEIN-INTERACTING PROTEIN; AUNIP", "OMIM:620398": "GLYCINE ENCEPHALOPATHY 2; GCE2", "OMIM:620399": "AARF DOMAIN-CONTAINING KINASE 1; ADCK1", "OMIM:620400": "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9; PFBMFT9", "OMIM:620402": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9; HMNR9", "OMIM:620403": "INKA-BOX ACTIN REGULATOR 2; INKA2", "OMIM:620404": "CYSTEINE- AND SERINE-RICH NUCLEAR PROTEIN 2; CSRNP2", "OMIM:620405": "CYSTEINE- AND SERINE-RICH NUCLEAR PROTEIN 3; CSRNP3", "OMIM:620406": "MCTS FAMILY, MEMBER 2; MCTS2", "OMIM:620407": "MER1 REPEAT-CONTAINING IMPRINTED TRANSCRIPT 1, NONCODING; MIMT1", "OMIM:620408": "MICRO RNA 337; MIR337", "OMIM:620409": "SPERMATOGENIC FAILURE 84; SPGF84", "OMIM:620410": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3; LDLCQ3", "OMIM:620411": "PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2; EPPK2", "OMIM:620412": "NONCODING RNA ASSOCIATED WITH MAP KINASE PATHWAY AND GROWTH ARREST; NAMA", "OMIM:620413": "GOLGI-ASSOCIATED KINASE 1A; GASK1A", "OMIM:620414": "SH3 DOMAIN-BINDING KINASE FAMILY, MEMBER 2; SBK2", "OMIM:620415": "WOOLLY HAIR-SKIN FRAGILITY SYNDROME; WHSF", "OMIM:620416": "SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT; SPG90A", "OMIM:620417": "SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE; SPG90B", "OMIM:620418": "NEGATIVE REGULATOR OF INTERFERON RESPONSE, NONCODING; NRIR", "OMIM:620419": "CYCLIN I FAMILY, MEMBER 2; CCNI2", "OMIM:620420": "HIG1 HYPOXIA-INDUCIBLE DOMAIN FAMILY, MEMBER 1B; HIGD1B", "OMIM:620421": "DDB1- AND CUL4-ASSOCIATED FACTOR 4-LIKE 2; DCAF4L2", "OMIM:620422": "RETINITIS PIGMENTOSA 97; RP97", "OMIM:620423": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7; MMDS7", "OMIM:620424": "ZYGOTE ARREST 1-LIKE; ZAR1L", "OMIM:620425": "CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2; CHINE2", "OMIM:620426": "INKA BOX ACTIN REGULATOR 1; INKA1", "OMIM:620427": "DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS; DYT37", "OMIM:620428": "NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES; NEDMLOB", "OMIM:620429": "TRANSMEMBRANE PROTEIN 64; TMEM64", "OMIM:620430": "AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3; ADMIO3", "OMIM:620431": "FLYWCH-TYPE ZINC FINGER PROTEIN 1; FLYWCH1", "OMIM:620432": "OSTEOCLAST STIMULATORY TRANSMEMBRANE PROTEIN; OCSTAMP", "OMIM:620433": "TRANSMEMBRANE PROTEIN 186; TMEM186", "OMIM:620434": "TRANSMEMBRANE PROTEIN 223; TMEM223", "OMIM:620435": "UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 5; UQCC5", "OMIM:620436": "TRANSMEMBRANE p24 TRAFFICKING PROTEIN 9; TMED9", "OMIM:620437": "TRANSMEMBRANE p24 TRAFFICKING PROTEIN 3; TMED3", "OMIM:620438": "CILIARY DYSKINESIA, PRIMARY, 51; CILD51", "OMIM:620439": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72; MRD72", "OMIM:620440": "GRB2-BINDING ADAPTOR PROTEIN, TRANSMEMBRANE; GAPT", "OMIM:620441": "ZINC FINGER PROTEIN 470; ZNF470", "OMIM:620442": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 5; BROVCA5", "OMIM:620443": "DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD; DPMC", "OMIM:620444": "CRANIOFACIAL MICROSOMIA 2; CFM2", "OMIM:620445": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES; NEDMIM", "OMIM:620446": "TETRASPANIN 17; TSPAN17", "OMIM:620447": "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3; MLC3", "OMIM:620448": "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING; MLC4", "OMIM:620449": "IMMUNODEFICIENCY 112; IMD112", "OMIM:620450": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73; MRD73", "OMIM:620451": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58; COXPD58", "OMIM:620452": "AMYOTROPHIC LATERAL SCLEROSIS 28; ALS28", "OMIM:620453": "DYSTONIA 22, JUVENILE-ONSET; DYT22JO", "OMIM:620454": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa; CDG2AA", "OMIM:620455": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES; NEDHSS", "OMIM:620456": "DYSTONIA 22, ADULT-ONSET; DYT22AO", "OMIM:620457": "AURICULOCONDYLAR SYNDROME 4; ARCND4", "OMIM:620458": "AURICULOCONDYLAR SYNDROME 2B; ARCND2B", "OMIM:620459": "BIRT-HOGG-DUBE SYNDROME 2; BHD2", "OMIM:620460": "OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2; OPMD2", "OMIM:620461": "ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12; IIAE12", "OMIM:620462": "CARDIOMYOPATHY, DILATED, 2I; CMD2I", "OMIM:620463": "ERYTHROID DIFFERENTIATION REGULATORY FACTOR 1; EDRF1", "OMIM:620464": "REST COREPRESSOR 3; RCOR3", "OMIM:620465": "EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3", "OMIM:620466": "ZINC FINGER PROTEIN 28; ZNF28", "OMIM:620467": "La RIBONUCLEOPROTEIN 1B; LARP1B", "OMIM:620468": "VERTEBRAE DEVELOPMENT-ASSOCIATED GENE; VRTN", "OMIM:620469": "CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY; CCDDRD", "OMIM:620470": "CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY; CSMH", "OMIM:620471": "FORKHEAD BOX O3B; FOXO3B", "OMIM:620472": "TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2B; TRAPPC2B", "OMIM:620473": "ZINC FINGER HIT DOMAIN-CONTAINING PROTEIN 6; ZNHIT6", "OMIM:620474": "ADIPOGENESIS-ASSOCIATED MTH938 DOMAIN-CONTAINING PROTEIN; AAMDC", "OMIM:620475": "THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY; THC8", "OMIM:620476": "MRT4 HOMOLOG, RIBOSOME MATURATION FACTOR; MRTO4", "OMIM:620477": "ZYMOGEN GRANULE PROTEIN 16B; ZG16B", "OMIM:620478": "THROMBOCYTOPENIA 9; THC9", "OMIM:620479": "CENTRIOLAR SATELLITE-ASSOCIATED TUBULIN POLYGLUTAMYLASE COMPLEX REGULATOR 1; CSTPP1", "OMIM:620480": "TRIPARTITE MOTIF FAMILY-LIKE PROTEIN 2; TRIML2", "OMIM:620481": "AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2; CAMT2", "OMIM:620482": "PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; PARK25", "OMIM:620483": "VARIEGATE PORPHYRIA, CHILDHOOD-ONSET; VPCO", "OMIM:620484": "THROMBOCYTOPENIA 10; THC10", "OMIM:620485": "TUBULIN TYROSINE LIGASE-LIKE 13; TTLL13", "OMIM:620486": "BLEEDING DISORDER, PLATELET-TYPE, 25; BDPLT25", "OMIM:620487": "CILIOGENESIS AND PLANAR POLARITY EFFECTOR COMPLEX, SUBUNIT 2; CPLANE2", "OMIM:620488": "NUCLEAR TRANSCRIPTION FACTOR, X BOX-BINDING-LIKE 1; NFXL1", "OMIM:620489": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES; NEDFBA", "OMIM:620490": "SPERMATOGENIC FAILURE 85; SPGF85", "OMIM:620491": "MATURIN, NEURAL PROGENITOR DIFFERENTIATION REGULATOR HOMOLOG; MTURN", "OMIM:620492": "MEDIATOR COMPLEX SUBUNIT 31; MED31", "OMIM:620493": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 7; SAMD7", "OMIM:620494": "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES; NEDLBF", "OMIM:620495": "REGULATOR OF DNA CLASS I CROSSOVER INTERMEDIATES 1; REDIC1", "OMIM:620496": "BASAL BODY ORIENTATION FACTOR 1; BBOF1", "OMIM:620497": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 49; LRRC49", "OMIM:620498": "TRANSCRIPTION ELONGATION REGULATOR 1-LIKE; TCERG1L", "OMIM:620499": "SPERMATOGENIC FAILURE 86; SPGF86", "OMIM:620500": "SPERMATOGENIC FAILURE 87; SPGF87", "OMIM:620501": "ZIEGLER-HUANG SYNDROME; ZHS", "OMIM:620502": "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES; NEDLC", "OMIM:620503": "FIDGETIN-LIKE PROTEIN 2; FIGNL2", "OMIM:620504": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111; DEE111", "OMIM:620505": "INTRAFLAGELLAR TRANSPORT 22; IFT22", "OMIM:620506": "INTRAFLAGELLAR TRANSPORT 46; IFT46", "OMIM:620507": "ICHTHYOSIS WITH ERYTHROKERATODERMA; IEKD", "OMIM:620508": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 10; CNOT10", "OMIM:620509": "CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 11; CNOT11", "OMIM:620510": "XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME; XGIP", "OMIM:620511": "FLIEDNER-ZWEIER SYNDROME; FZS", "OMIM:620512": "SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT; SPG18A", "OMIM:620513": "UNC119 LIPID-BINDING CHAPERONE B; UNC119B", "OMIM:620514": "IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION; IDAA", "OMIM:620515": "NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION; NEDRSO", "OMIM:620516": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 3; SAMD3", "OMIM:620517": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 5; SAMD5", "OMIM:620518": "KELCH DOMAIN-CONTAINING PROTEIN 4; KLHDC4", "OMIM:620519": "ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES; ARCME", "OMIM:620520": "CALMODULIN-LIKE 4; CALML4", "OMIM:620521": "KELCH DOMAIN-CONTAINING PROTEIN 7B; KLHDC7B", "OMIM:620522": "ONCOMODULIN 2; OCM2", "OMIM:620523": "RING FINGER PROTEIN 122; RNF122", "OMIM:620524": "DDB1- AND CUL4-ASSOCIATED FACTOR 16; DCAF16", "OMIM:620525": "LONG INTERGENIC NONCODING RNA 2228; LINC02228", "OMIM:620526": "SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT COCHAPERONE, BETA; SGTB", "OMIM:620527": "TRIPARTITE MOTIF-CONTAINING PROTEIN 58; TRIM58", "OMIM:620528": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11; HMND11", "OMIM:620529": "RING FINGER PROTEIN 121; RNF121", "OMIM:620530": "ALLREGULIN; ARLN", "OMIM:620531": "SMALL INTEGRAL MEMBRANE PROTEIN 6; SMIM6", "OMIM:620532": "HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES6", "OMIM:620533": "LONG INTERGENIC NONCODING RNA 520; LINC00520", "OMIM:620534": "NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE; SCN10", "OMIM:620535": "DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES; DEVDFB", "OMIM:620536": "ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE; ATS3B", "OMIM:620537": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112; DEE112", "OMIM:620538": "SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91", "OMIM:620539": "ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 4; ZSWIM4", "OMIM:620540": "DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY; DEVEP", "OMIM:620541": "PROAPOPTOTIC NUCLEOLAR PROTEIN 1; PANO1", "OMIM:620542": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10; HMNR10", "OMIM:620543": "ZINC FINGER CONTAINING UBIQUITIN PEPTIDASE 1; ZUP1", "OMIM:620544": "PPP1R13B DIVERGENT TRANSCRIPT, NONCODING; PPP1R13BDT", "OMIM:620545": "ARTHROGRYPOSIS, DISTAL, TYPE 12; DA12", "OMIM:620546": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb; CDG2BB", "OMIM:620547": "SPERMATOGENIC FAILURE 88; SPGF88", "OMIM:620548": "PREMATURE OVARIAN FAILURE 22; POF22", "OMIM:620549": "F-BOX PROTEIN 48; FBXO48", "OMIM:620550": "OPTIC ATROPHY 14; OPA14", "OMIM:620551": "DEAFNESS, AUTOSOMAL RECESSIVE 121; DFNB121", "OMIM:620552": "CUE DOMAIN-CONTAINING PROTEIN 1; CUEDC1", "OMIM:620553": "COILED-COIL DOMAIN-CONTAINING PROTEIN 93; CCDC93", "OMIM:620554": "ZINC FINGER PROTEIN 432; ZNF432", "OMIM:620555": "SMALL NUCLEOLAR RNA HOST GENE 20; SNHG20", "OMIM:620556": "RING FINGER PROTEIN 133; RNF133", "OMIM:620557": "IQ MOTIF- AND UBIQUITIN DOMAIN-CONTAINING PROTEIN; IQUB", "OMIM:620558": "CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA; CMDOH", "OMIM:620559": "CYCLIN Y-LIKE 1; CCNYL1", "OMIM:620560": "CEBPA DIVERGENT TRANSCRIPT; CEBPA-DT", "OMIM:620561": "DENN DOMAIN-CONTAINING PROTEIN 6A; DENND6A", "OMIM:620562": "DENN DOMAIN-CONTAINING PROTEIN 6B; DENND6B", "OMIM:620563": "UBIQUITIN-SPECIFIC PEPTIDASE 50; USP50", "OMIM:620564": "ANTAGONIST OF MITOTIC EXIT NETWORK 1 HOMOLOG; AMN1", "OMIM:620565": "IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION; IMD113", "OMIM:620566": "CLAUDIN 22; CLDN22", "OMIM:620567": "ZINC FINGER PROTEIN 507; ZNF507", "OMIM:620568": "CORNELIA DE LANGE SYNDROME 6; CDLS6", "OMIM:620569": "LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2; LHONAR2", "OMIM:620570": "CILIARY DYSKINESIA, PRIMARY, 52; CILD52", "OMIM:620571": "MICRO RNA 512-1; MIR512-1", "OMIM:620572": "MICRO RNA 512-2; MIR512-2", "OMIM:620573": "MICRO RNA 520E; MIR520E", "OMIM:620574": "MICRO RNA 515-1; MIR515-1", "OMIM:620575": "MICRO RNA 519E; MIR519E", "OMIM:620576": "OTOSCLEROSIS 11; OTSC11", "OMIM:620577": "FATTY ACID DESATURASE 6; FADS6", "OMIM:620578": "UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 4; UQCC4", "OMIM:620579": "COILED-COIL DOMAIN-CONTAINING PROTEIN 3; CCDC3", "OMIM:620580": "DEAQ-BOX RNA-DEPENDENT ATPase 1; DQX1", "OMIM:620581": "OXIDOREDUCTASE NAD-BINDING DOMAIN-CONTAINING PROTEIN 1; OXNAD1", "OMIM:620582": "CHROMOSOME 1 OPEN READING FRAME 210; C1ORF210", "OMIM:620583": "OPTIC ATROPHY 15; OPA15", "OMIM:620584": "MICRO RNA 498; MIR498", "OMIM:620585": "MICRO RNA 520F; MIR520F", "OMIM:620586": "MICRO RNA 515-2; MIR515-2", "OMIM:620587": "MICRO RNA 519C; MIR519C", "OMIM:620588": "MICRO RNA 520A; MIR520A", "OMIM:620589": "MICRO RNA 526B; MIR526B", "OMIM:620590": "RADICAL S-ADENOSYL METHIONINE DOMAIN-CONTAINING PROTEIN 1; RSAD1", "OMIM:620591": "MICRO RNA 519B; MIR519B", "OMIM:620592": "MICRO RNA 525; MIR525", "OMIM:620593": "MICRO RNA 523; MIR523", "OMIM:620594": "MICRO RNA 518F; MIR518F", "OMIM:620595": "MICRO RNA 520B; MIR520B", "OMIM:620596": "MICRO RNA 518B; MIR518B", "OMIM:620597": "MICRO RNA 526A1; MIR526A1", "OMIM:620598": "MICRO RNA 518C; MIR518C", "OMIM:620599": "MICRO RNA 524; MIR524", "OMIM:620600": "MICRO RNA 517A; MIR517A", "OMIM:620601": "GARG-MISHRA PROGEROID SYNDROME; GMPGS", "OMIM:620602": "LYMPHATIC MALFORMATION 14; LMPHM14", "OMIM:620603": "IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE; IMD114", "OMIM:620604": "PROSTAGLANDIN REDUCTASE 3; PTGR3", "OMIM:620605": "CYTOCHROME P450, FAMILY 27, SUBFAMILY C, MEMBER 1; CYP27C1", "OMIM:620606": "SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE; SPG72B", "OMIM:620607": "SPASTIC PARAPLEGIA 30B, AUTOSOMAL RECESSIVE; SPG30B", "OMIM:620608": "TESTIS-EXPRESSED GENE 264; TEX264", "OMIM:620609": "LONG-OLSEN-DISTELMAIER SYNDROME; LNGODS", "OMIM:620610": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21; OZEMA21", "OMIM:620611": "MICRO RNA 521-2; MIR521-2", "OMIM:620612": "MICRO RNA 520D; MIR520D", "OMIM:620613": "MICRO RNA 517B; MIR517B", "OMIM:620614": "MICRO RNA 516B2; MIR516B2", "OMIM:620615": "MICRO RNA 526A2; MIR526A2", "OMIM:620616": "MICRO RNA 518E; MIR518E", "OMIM:620617": "MICRO RNA 518A1; MIR518A1", "OMIM:620618": "MICRO RNA 518D; MIR518D", "OMIM:620619": "MICRO RNA 516B1; MIR516B1", "OMIM:620620": "MICRO RNA 518A2; MIR518A2", "OMIM:620621": "MICRO RNA 517C; MIR517C", "OMIM:620622": "MICRO RNA 521-1; MIR521-1", "OMIM:620623": "MICRO RNA 522; MIR522", "OMIM:620624": "MICRO RNA 519A1; MIR519A1", "OMIM:620625": "MICRO RNA 527; MIR527", "OMIM:620626": "MICRO RNA 516A1; MIR516A1", "OMIM:620627": "MICRO RNA 516A2; MIR516A2", "OMIM:620628": "MICRO RNA 519A2; MIR519A2", "OMIM:620629": "OPTIC ATROPHY 16; OPA16", "OMIM:620630": "TRANSMEMBRANE PROTEIN 170A; TMEM170A", "OMIM:620631": "ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 7; EMC7", "OMIM:620632": "IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION; IMD115", "OMIM:620633": "GOLGI TRANSPORT 1A; GOLT1A", "OMIM:620634": "IMMUNITY-RELATED GTPase CINEMA; IRGC", "OMIM:620635": "CARDIOMYOPATHY, DILATED, 2J; CMD2J", "OMIM:620636": "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE; CONDCAC", "OMIM:620637": "CADHERIN-LIKE DOMAIN- AND PC-ESTERASE DOMAIN-CONTAINING PROTEIN 1; CPED1", "OMIM:620638": "POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 4; KCTD4", "OMIM:620639": "OSTEOGENESIS IMPERFECTA, TYPE XXIII; OI23", "OMIM:620640": "RING FINGER PROTEIN 145; RNF145", "OMIM:620641": "TAN-ALMURSHEDI SYNDROME; TANALS", "OMIM:620642": "CILIARY DYSKINESIA, PRIMARY, 53; CILD53", "OMIM:620643": "MICRO RNA 1323; MIR1323", "OMIM:620644": "MICRO RNA 1283-1; MIR1283-1", "OMIM:620645": "MICRO RNA 1283-2; MIR283-2", "OMIM:620646": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59; COXPD59", "OMIM:620647": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6; PEOB6", "OMIM:620648": "BUTYROPHILIN-LIKE PROTEIN 9; BTNL9", "OMIM:620649": "PHOSPHOLIPASE A2, GROUP IVE; PLA2G4E", "OMIM:620650": "GLYOXALASE DOMAIN-CONTAINING PROTEIN 4; GLOD4", "OMIM:620651": "DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME; DDDS", "OMIM:620652": "SH3 DOMAIN-BINDING PROTEIN 5-LIKE; SH3BP5L", "OMIM:620653": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY; MRT80", "OMIM:620654": "THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11", "OMIM:620655": "ALFADHEL SYNDROME; AFDL", "OMIM:620656": "PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN 2; PSD2", "OMIM:620657": "AMYLOIDOSIS, HEREDITARY SYSTEMIC 3; AMYLD3", "OMIM:620658": "AMYLOIDOSIS, HEREDITARY SYSTEMIC 5; AMYLD5", "OMIM:620659": "AMYLOIDOSIS, HEREDITARY SYSTEMIC 6; AMYLD6", "OMIM:620660": "CCZ1 HOMOLOG, VACUOLAR PROTEIN TRAFFICKING- AND BIOGENESIS-ASSOCIATED PROTEIN; CCZ1", "OMIM:620661": "CHROMOSOME 10 OPEN READING FRAME 88; C10ORF88", "OMIM:620662": "HOXHA-ALIU SYNDROME; HXAL", "OMIM:620663": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE; SEMDGC", "OMIM:620664": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 37; ARHGEF37", "OMIM:620665": "PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G4B; PLEKHG4B", "OMIM:620666": "SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE; SPAX10", "OMIM:620667": "CENTROSOMAL PROTEIN, 128-KD; CEP128", "OMIM:620668": "IMMUNODEFICIENCY 117; IMD117", "OMIM:620669": "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9; NBIA9", "OMIM:620670": "IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15", "OMIM:620671": "POU CLASS 2 HOMEOBOX-ASSOCIATING FACTOR 2; POU2AF2", "OMIM:620672": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 24; LRRC24", "OMIM:620673": "MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, BETA-2; MAP1LC3B2", "OMIM:620674": "NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11", "OMIM:620675": "LEUKODYSTROPHY, HYPOMYELINATING, 27; HLD27", "OMIM:620676": "COILED-COIL DOMAIN-CONTAINING PROTEIN 61; CCDC61", "OMIM:620677": "TRANSMEMBRANE PROTEIN 192; TMEM192", "OMIM:620678": "RAS AND RAB INTERACTOR-LIKE PROTEIN; RINL", "OMIM:620679": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8; FPLD8", "OMIM:620680": "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5; CGL5", "OMIM:620681": "MYOCLONIC EPILEPSY OF LAFORA 2; MELF2", "OMIM:620682": "SUZ RNA-BINDING DOMAIN-CONTAINING PROTEIN 1; SZRD1", "OMIM:620683": "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9; FPLD9", "OMIM:620684": "HGH1 HOMOLOG; HGH1", "OMIM:620685": "CHROMOSOME 19 OPEN READING FRAME 53; C19ORF53", "OMIM:620686": "PREMATURE OVARIAN FAILURE 23; POF23", "OMIM:620687": "MOYAMOYA DISEASE 7; MYMY7", "OMIM:620688": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74; MRD74", "OMIM:620689": "LSM FAMILY, MEMBER 14B; LSM14B", "OMIM:620690": "DEVELOPMENTAL DYSPLASIA OF THE HIP 3; DDH3", "OMIM:620691": "BUD13 HOMOLOG; BUD13", "OMIM:620692": "NANOG NEIGHBOR HOMEOBOX; NANOGNB", "OMIM:620693": "ASTEROID HOMOLOG 1; ASTE1", "OMIM:620694": "TUBULIN TYROSINE LIGASE-LIKE 11; TTLL11", "OMIM:620695": "NOTOCHORD HOMEOBOX; NOTO", "OMIM:620696": "RBPJ-INTERACTING AND TUBULIN-ASSOCIATED PROTEIN 1; RITA1", "OMIM:620697": "ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 14; ZCCHC14", "OMIM:620698": "MAPLE SYRUP URINE DISEASE, TYPE IB; MSUD1B", "OMIM:620699": "MAPLE SYRUP URINE DISEASE, TYPE II; MSUD2", "OMIM:620700": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81; MRT81", "OMIM:620701": "TETRATRICOPEPTIDE REPEAT DOMAIN 36; TTC36", "OMIM:620702": "MITOCHONDRIAL CALCIUM UNIPORTER, DOMINANT-NEGATIVE SUBUNIT BETA; MCUB", "OMIM:620703": "YUKSEL-VOGEL-BAUER SYNDROME; YUVOB", "OMIM:620704": "ENCEPHALOPATHY, PORPHYRIA-RELATED; ENCEP", "OMIM:620705": "SPERMATOGENIC FAILURE 89; SPGF89", "OMIM:620706": "DEVELOPING BRAIN HOMEOBOX 2; DBX2", "OMIM:620707": "EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE; EHK2B", "OMIM:620708": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 23; LRRC23", "OMIM:620709": "TUBULIN POLYGLUTAMYLASE COMPLEX, SUBUNIT 1; TPGS1", "OMIM:620710": "TUBULIN POLYGLUTAMYLASE COMPLEX, SUBUNIT 2; TPGS2", "OMIM:620711": "LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED; LENCEP", "OMIM:620712": "POLYDACTYLY-MACROCEPHALY SYNDROME; PDMCS", "OMIM:620713": "MITOCHONDRIAL MATRIX IMPORT FACTOR 23; MIX23", "OMIM:620714": "DEAFNESS, AUTOSOMAL RECESSIVE 122; DFNB122", "OMIM:620715": "BLEEDING DISORDER, VASCULAR-TYPE; BDVAS", "OMIM:620716": "D-GLUTAMATE CYCLASE; DGLUCY", "OMIM:620717": "MITOCHONDRIAL NUCLEOID-ASSOCIATED PROTEIN 1; MTNAP1", "OMIM:620718": "OROFACIODIGITAL SYNDROME XX; OFD20", "OMIM:620719": "NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM; NEDMSF", "OMIM:620720": "ZINC FINGER PROTEIN 549; ZNF549", "OMIM:620721": "TRANSMEMBRANE PROTEIN 242; TMEM242", "OMIM:620722": "DEAFNESS, AUTOSOMAL DOMINANT 90; DFNA90", "OMIM:620723": "LONG INTERGENIC NONCODING RNA 2381; LINC02381", "OMIM:620724": "ENOYL COENZYME A HYDRATASE DOMAIN-CONTAINING PROTEIN 2; ECHDC2", "OMIM:620725": "BETHLEM MYOPATHY 1B; BTHLM1B", "OMIM:620726": "BETHLEM MYOPATHY 1C; BTHLM1C", "OMIM:620727": "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B; UCMD1B", "OMIM:620728": "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C; UCMD1C", "OMIM:620729": "HYPERFERRITINEMIA; HRFT", "OMIM:620730": "HYPEREMESIS GRAVIDARUM, SUSCEPTIBILITY TO; HG", "OMIM:620731": "MICROPHTHALMIA/COLOBOMA 11; MCOPCB11", "OMIM:620732": "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES; NEDMSB", "OMIM:620733": "MICRO RNA 708; MIR708", "OMIM:620734": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL; CMH30", "OMIM:620735": "SERINE DEHYDRATASE-LIKE PROTEIN; SDSL", "OMIM:620736": "COENZYME Q10A; COQ10A", "OMIM:620737": "COENZYME Q10B; COQ10B", "OMIM:620738": "ZONE OF POLARIZING ACTIVITY REGULATORY SEQUENCE; ZRS", "OMIM:620739": "RCC1-LIKE PROTEIN; RCC1L", "OMIM:620740": "STATHMIN 4; STMN4", "OMIM:620741": "INTRAFLAGELLAR TRANSPORT 70A; IFT70A", "OMIM:620742": "INTRAFLAGELLAR TRANSPORT 70B; IFT70B", "OMIM:620743": "SDE2 TELOMERE MAINTENANCE HOMOLOG; SDE2", "OMIM:620744": "SPERMATOGENIC FAILURE 90; SPGF90", "OMIM:620745": "DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123", "OMIM:620746": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES; NEDHBA", "OMIM:620747": "NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES; NEDPBA", "OMIM:620748": "MEGALENCEPHALY-POLYDACTYLY SYNDROME; MPAPA", "OMIM:620749": "ZINC FINGER PROTEIN 438; ZNF438", "OMIM:620750": "PRELI DOMAIN-CONTAINING PROTEIN 2; PRELID2", "OMIM:620751": "RETROTRANSPOSON GAG-LIKE 10; RTL10", "OMIM:620752": "TRANSMEMBRANE PROTEIN 177; TMEM177", "OMIM:620753": "COILED-COIL DOMAIN-CONTAINING PROTEIN 90B; CCDC90B", "OMIM:620754": "PRELI DOMAIN-CONTAINING PROTEIN 3B; PRELID3B", "OMIM:620755": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12; GEFSP12", "OMIM:620756": "ENOYL COENZYME A HYDRATASE DOMAIN-CONTAINING PROTEIN 3; ECHDC3", "OMIM:620757": "THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY; THC12", "OMIM:620758": "TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23B; TIMM23B", "OMIM:620759": "POLG ALTERNATIVE READING FRAME; POLGARF", "OMIM:620760": "MITOCHONDRIAL LACTATE DEHYDROGENASE REGULATOR; MLDHR", "OMIM:620761": "CHROMOSOME 9 OPEN READING FRAME 85; C9ORF85", "OMIM:620762": "MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION; MDCD", "OMIM:620763": "CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD", "OMIM:620764": "MITOCHONDRIAL SHEATH FORMATION-ASSOCIATED; MISFA", "OMIM:620765": "MITOCHONDRIAL FISSION REGULATOR 1-LIKE PROTEIN; MTFR1L", "OMIM:620766": "FORMATION OF MITOCHONDRIAL COMPLEX V ASSEMBLY FACTOR 1 HOMOLOG; FMC1", "OMIM:620767": "SECKEL SYNDROME 11; SCKL11", "OMIM:620768": "RIBOSOME-BINDING FACTOR A; RBFA", "OMIM:620769": "HYDROXYACYL-THIOESTER DEHYDRATASE, TYPE 2; HTD2", "OMIM:620770": "MITOREGULIN; MTLN", "OMIM:620771": "JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME; JELANS", "OMIM:620772": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113; DEE113", "OMIM:620773": "PROLINE- AND SERINE-RICH PROTEIN 1; PROSER1", "OMIM:620774": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114; DEE114", "OMIM:620775": "NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES; NMDF", "OMIM:620776": "THROMBOCYTOPENIA 13, SYNDROMIC; THC13", "OMIM:620777": "PULMONARY HYPERTENSION, PRIMARY, 6; PPH6", "OMIM:620778": "KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, SHORT CYTOPLASMIC TAIL, 1; KIR3DS1", "OMIM:620779": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82; MRT82", "OMIM:620780": "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID; ARCL1D", "OMIM:620781": "TRANSMEMBRANE PROTEIN 208; TMEM208", "OMIM:620782": "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER; NEDLAAD", "OMIM:620783": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115", "OMIM:620784": "NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA", "OMIM:620785": "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES; NEDPM", "OMIM:620786": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE; IBGC9", "OMIM:620787": "T-CELL ACTIVATION INHIBITOR, MITOCHONDRIAL; TCAIM", "OMIM:620788": "HIG1 HYPOXIA-INDUCIBLE DOMAIN FAMILY, MEMBER 2A; HIGD2A", "OMIM:620789": "APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME; ACED", "OMIM:620790": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES; NEDHS", "OMIM:620791": "CENTROSOMAL PROTEIN, 76-KD; CEP76", "OMIM:620792": "OTOSCLEROSIS 12; OTSC12", "OMIM:620793": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 29; LGMDR29", "OMIM:620794": "DEAFNESS, AUTOSOMAL RECESSIVE 124; DFNB124", "OMIM:620795": "AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION; AIFID", "OMIM:620796": "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6; PRAAS6", "OMIM:620797": "DNL-TYPE ZINC FINGER PROTEIN; DNLZ", "OMIM:620798": "FRY-LIKE TRANSCRIPTION COACTIVATOR; FRYL", "OMIM:620799": "LONG INTERGENIC NONCODING RNA 941; LINC00941", "OMIM:620800": "STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 13; SAMD13", "OMIM:620801": "GLYCEROL KINASE 5; GK5", "OMIM:620802": "WD REPEAT-, STERILE ALPHA MOTIF-, AND U-BOX DOMAIN-CONTAINING PROTEIN 1; WDSUB1", "OMIM:620803": "HIG1 HYPOXIA-INDUCIBLE DOMAIN FAMILY, MEMBER 1C; HIGD1C", "OMIM:620804": "MOB KINASE ACTIVATOR 3C; MOB3C", "OMIM:620805": "ISOCHORISMATASE DOMAIN-CONTAINING PROTEIN 1; ISOC1", "OMIM:620806": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116; DEE116", "OMIM:620807": "IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION; IMD121", "OMIM:620808": "SMALL NUCLEOLAR RNA HOST GENE 17; SNHG17", "OMIM:620809": "ACHAETE-SCUTE FAMILY bHLH TRANSCRIPTION FACTOR 5; ASCL5", "OMIM:620810": "SMALL NUCLEOLAR RNA, C/D BOX, 94; SNORD94", "OMIM:620811": "SMALL CAJAL BODY-SPECIFIC RNA 1; SCARNA1", "OMIM:620812": "CLAUDIN 25; CLDN25", "OMIM:620813": "MHC CLASS I DEFICIENCY 2; MHC1D2", "OMIM:620814": "MHC CLASS I DEFICIENCY 3; MHC1D3", "OMIM:620815": "MHC CLASS II DEFICIENCY 2; MHC2D2", "OMIM:620816": "MHC CLASS II DEFICIENCY 3; MHC2D3", "OMIM:620817": "MHC CLASS II DEFICIENCY 4; MHC2D4", "OMIM:620818": "MHC CLASS II DEFICIENCY 5; MHC2D5", "OMIM:620819": "ROTHMUND-THOMSON SYNDROME, TYPE 4; RTS4", "OMIM:620820": "EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME; NEDEHC", "OMIM:620821": "ITPRIPL1-LIKE PROTEIN 1; ITPRIPL1", "OMIM:620822": "RNA, U4 SMALL NUCLEAR 1; RNU4-1", "OMIM:620823": "RNA, U4 SMALL NUCLEAR 2; RNU4-2", "OMIM:620824": "GLYCOLIPID TRANSFER PROTEIN DOMAIN-CONTAINING PROTEIN 2; GLTPD2", "OMIM:620825": "IMMUNODEFICIENCY 119; IMD119", "OMIM:620826": "WD REPEAT-CONTAINING PROTEIN 54; WDR54", "OMIM:620827": "ZINC FINGER PROTEIN 229; ZNF229", "OMIM:620828": "OLFACTORY RECEPTOR, FAMILY 9, SUBFAMILY I, MEMBER 1; OR9I1", "OMIM:620829": "HERPUD FAMILY, MEMBER 2; HERPUD2", "OMIM:620830": "AURONEURODENTAL SYNDROME; ANDS", "OMIM:620831": "SACCHAROPINE DEHYDROGENASE, PUTATIVE; SCCPDH", "OMIM:620832": "WD REPEAT-CONTAINING PROTEIN 55; WDR55", "OMIM:620833": "RNA-BINDING MOTIF PROTEIN 33; RBM33", "OMIM:620834": "SYNAPSE DEFECTIVE RHO GTPase HOMOLOG 2; SYDE2", "OMIM:620835": "TUBULIN, ALPHA-LIKE 3; TUBAL3", "OMIM:620836": "IMMUNODEFICIENCY 120; IMD120", "OMIM:620837": "ADHESION G PROTEIN-COUPLED RECEPTOR D2; ADGRD2", "OMIM:620838": "SPERMATOGENIC FAILURE 91; SPGF91", "OMIM:620839": "CHROMOSOME 6 OPEN READING FRAME 132; C6ORF132", "OMIM:620840": "PREMATURE OVARIAN FAILURE 24; POF24", "OMIM:620841": "INTRAFLAGELLAR TRANSPORT 25; IFT25", "OMIM:620842": "ANKYRIN REPEAT- AND MYND DOMAIN-CONTAINING PROTEIN 1; ANKMY1", "OMIM:620843": "HEAT-SHOCK TRANSCRIPTION FACTOR 5; HSF5", "OMIM:620844": "RWD DOMAIN-CONTAINING PROTEIN 1; RWDD1", "OMIM:620845": "TRANSMEMBRANE 4 L6 FAMILY, MEMBER 19; TM4SF19", "OMIM:620846": "N-TERMINAL GLUTAMINE AMIDASE 1; NTAQ1", "OMIM:620847": "BONE MORPHOGENETIC PROTEIN 8A; BMP8A", "OMIM:620848": "SPERMATOGENIC FAILURE 92; SPGF92", "OMIM:620849": "SPERMATOGENIC FAILURE 93; SPGF93", "OMIM:620850": "SPERMATOGENIC FAILURE 94; SPGF94", "OMIM:620851": "ReNU SYNDROME; RENU", "OMIM:620852": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFDB", "OMIM:620853": "ANKYRIN REPEAT- AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; ANKFN1", "OMIM:620854": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY; HMNR11", "OMIM:620855": "G PROTEIN-COUPLED RECEPTOR 155; GPR155", "OMIM:620856": "FATTY ACID-BINDING PROTEIN 9; FABP9", "OMIM:620857": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 33; ANKRD33", "OMIM:620858": "GLUTAMATE-RICH PROTEIN 2; ERICH2", "OMIM:620859": "EXONUCLEASE 3-PRIME-TO-5-PRIME DOMAIN-CONTAINING PROTEIN 3; EXD3", "OMIM:620860": "G PROTEIN-COUPLED RECEPTOR 157; GPR157", "OMIM:620861": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 44; ANKRD44", "OMIM:620862": "ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 52; ANKRD52", "OMIM:620863": "AMIDOHYDROLASE DOMAIN-CONTAINING PROTEIN 1; AMDHD1", "OMIM:620864": "AMIDOHYDROLASE DOMAIN-CONTAINING PROTEIN 2; AMDHD2", "OMIM:620865": "EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3; EDSCLL3", "OMIM:620866": "GLUTAMATE-RICH PROTEIN 3; ERICH3", "OMIM:620867": "ARMADILLO-LIKE HELICAL DOMAIN-CONTAINING PROTEIN 3; ARMH3", "OMIM:620868": "AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 3C; ARID3C", "OMIM:620869": "IMMUNODEFICIENCY 122; IMD122", "OMIM:620870": "DNA DAMAGE-INDUCIBLE 1 HOMOLOG 1; DDI1", "OMIM:620871": "DNA DAMAGE-INDUCIBLE 1 HOMOLOG 2; DDI2", "OMIM:620872": "ADHESION G PROTEIN-COUPLED RECEPTOR F2; ADGRF2", "OMIM:620873": "ADHESION G PROTEIN-COUPLED RECEPTOR F3; ADGRF3", "OMIM:620874": "ADHESION G PROTEIN-COUPLED RECEPTOR F5; ADGRF5", "OMIM:620875": "FIC DOMAIN-CONTAINING PROTEIN ADENYLYLTRANSFERASE; FICD", "OMIM:620876": "HECT DOMAIN E3 UBIQUITIN PROTEIN LIGASE 2; HECTD2", "OMIM:620877": "DEAFNESS, AUTOSOMAL RECESSIVE 125; DFNB125", "OMIM:620878": "INTEGRATOR COMPLEX SUBUNIT 14; INTS14", "OMIM:620879": "FIBROBLAST GROWTH FACTOR-BINDING PROTEIN 3; FGFBP3", "OMIM:620880": "AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS; AIARV", "OMIM:620881": "COILED-COIL GLUTAMATE-RICH PROTEIN 1; CCER1", "OMIM:620882": "SECONDARY OSSIFICATION CENTER-ASSOCIATED REGULATOR OF CHONDROCYTE MATURATION; SNORC", "OMIM:620883": "FER1-LIKE FAMILY, MEMBER 5; FER1L5", "OMIM:620884": "FER1-LIKE FAMILY, MEMBER 6; FER1L6", "OMIM:620885": "tRNA METHYLTRANSFERASE 61A; TRMT61A", "OMIM:620886": "tRNA METHYLTRANSFERASE 6, NONCATALYTIC SUBUNIT; TRMT6", "OMIM:620887": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B; MMDS9B", "OMIM:620888": "NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1; NEDFET1", "OMIM:620889": "FORKHEAD-ASSOCIATED PHOSPHOPEPTIDE-BINDING DOMAIN-CONTAINING PROTEIN 1; FHAD1", "OMIM:620890": "GROWTH HORMONE-REGULATED TBC PROTEIN 1; GRTP1", "OMIM:620891": "COILED-COIL DOMAIN-CONTAINING PROTEIN 181; CCDC181", "OMIM:620892": "CHIBBY FAMILY, MEMBER 3; CBY3", "OMIM:620893": "IMPORTIN 9; IPO9", "OMIM:620894": "CARDIOMYOPATHY, DILATED, 2K; CMD2K", "OMIM:620895": "GLUTAMATE-RICH PROTEIN 5; ERICH5", "OMIM:620896": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 42; LRRC42", "OMIM:620897": "OVARIAN DYSGENESIS 11; ODG11", "OMIM:620898": "MICRO RNA 7-2; MIR7-2", "OMIM:620899": "MICRO RNA 1179; MIR1179", "OMIM:620900": "SHORT TANDEM REPEAT, TTTG(4), THYROID-SPECIFIC; STRTS", "OMIM:620901": "IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS; IMD123", "OMIM:620902": "TRINUCLEOTIDE REPEAT-CONTAINING GENE 18; TNRC18", "OMIM:620903": "POLYCYSTIC KIDNEY DISEASE 8; PKD8", "OMIM:620904": "FAMILY WITH SEQUENCE SIMILARITY 98, MEMBER A; FAM98A", "OMIM:620905": "DOUBLE ZINC RIBBON AND ANKYRIN REPEAT DOMAINS 1; DZANK1", "OMIM:620906": "METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN 1; MBLAC1", "OMIM:620907": "METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN 2; MBLAC2", "OMIM:620908": "ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME; ATBFS", "OMIM:620909": "KINESIN LIGHT CHAIN 4; KLC4", "OMIM:620910": "OTOFACIAL NEURODEVELOPMENTAL SYNDROME; OFNS", "OMIM:620911": "SPASTIC PARAPLEGIA 92, AUTOSOMAL RECESSIVE; SPG92", "OMIM:620912": "MICAL-LIKE PROTEIN 2; MICALL2", "OMIM:620913": "N-ACETYLTRANSFERASE 9; NAT9", "OMIM:620914": "MAB21 DOMAIN-CONTAINING PROTEIN 2; MB21D2", "OMIM:620915": "MYOSIN XVB; MYO15B", "OMIM:620916": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 5A; ZSCAN5A", "OMIM:620917": "SPERMATOGENIC FAILURE 95; SPGF95", "OMIM:620918": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 5B; ZSCAN5B", "OMIM:620919": "MANNOSIDASE, ENDO-ALPHA-LIKE; MANEAL", "OMIM:620920": "KRAB-A DOMAIN-CONTAINING PROTEIN 2; KRBA2", "OMIM:620921": "ZINC FINGER PROTEIN 512; ZNF512", "OMIM:620922": "LEUCINE-RICH REPEATS- AND IQ MOTIF-CONTAINING PROTEIN 1; LRRIQ1", "OMIM:620923": "PARKINSON DISEASE 26, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK26", "OMIM:620924": "NOTCHLESS HOMOLOG 1; NLE1", "OMIM:620925": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 31; LRRC31", "OMIM:620926": "IMMUNODEFICIENCY 125; IMD125", "OMIM:620927": "LEUCINE-RICH REPEAT-CONTAINING PROTEIN 46; LRRC46", "OMIM:620928": "JUMONJI DOMAIN-CONTAINING PROTEIN 4; JMJD4", "OMIM:620929": "MOB KINASE ACTIVATOR 3A; MOB3A", "OMIM:620930": "MAESTRO HEAT-LIKE REPEAT FAMILY, MEMBER 2B; MROH2B", "OMIM:620931": "IMMUNODEFICIENCY 126, SUSCEPTIBILITY TO; IMD126", "OMIM:620932": "ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 29; ZSCAN29", "OMIM:620933": "PNMA FAMILY, MEMBER 8A; PNMA8A", "OMIM:620934": "PNMA FAMILY, MEMBER 8C; PNMA8C", "OMIM:620935": "TESTIS-EXPRESSED GENE 9; TEX9", "OMIM:620936": "WD REPEAT-CONTAINING PROTEIN 27; WDR27", "OMIM:620937": "KARIMINEJAD NEURODEVELOPMENTAL SYNDROME; KAREVS", "OMIM:620938": "SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE; SPG93", "OMIM:620939": "MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES; MFANDO", "OMIM:620940": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE; MAHCL", "OMIM:620941": "SYNAPTOPODIN 2; SYNPO2", "OMIM:620942": "SYNPO2 INTRON SENSE-OVERLAPPING LONG NONCODING RNA", "OMIM:620943": "BRAIN MALFORMATION RENAL SYNDROME; BMRS", "OMIM:620944": "ARRESTIN DOMAIN-CONTAINING PROTEIN 5; ARRDC5", "OMIM:620945": "CILIARY MICROTUBULE INNER PROTEIN 4; CIMIP4", "OMIM:620946": "UBIQUITIN-SPECIFIC PEPTIDASE 42; USP42", "OMIM:620947": "SPINOCEREBELLAR ATAXIA 51; SCA51", "OMIM:620948": "UTP6 SMALL SUBUNIT PROCESSOME COMPONENT; UTP6", "OMIM:620949": "TOG ARRAY REGULATOR OF AXONEMAL MICROTUBULES 2; TOGARAM2", "OMIM:620950": "ENCEPHALOPATHY, ACUTE TRANSIENT; ENPAT", "OMIM:620951": "WD REPEAT-CONTAINING PROTEIN 31; WDR31", "OMIM:620952": "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE; HMAD", "OMIM:620953": "METHYLMALONIC ACIDURIA, cblD TYPE; MACD", "OMIM:620954": "TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 6; TTC6", "OMIM:620955": "SORTING NEXIN 30; SNX30", "OMIM:620956": "ZINC FINGER C3H1 DOMAIN-CONTAINING PROTEIN; ZFC3H1", "OMIM:620957": "tRNA METHYLTRANSFERASE 10B; TRMT10B", "OMIM:620958": "FOVEAL HYPOPLASIA 3; FVH3", "OMIM:620959": "UBIQUITIN-SPECIFIC PEPTIDASE 35; USP35", "OMIM:620960": "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10; MMDS10", "OMIM:620961": "SORTING NEXIN 25; SNX25", "OMIM:620962": "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13; PFIC13", "OMIM:620963": "ZINC FINGER DHHC-TYPE PALMITOYLTRANSFERASE 18; ZDHHC18", "OMIM:620964": "CONGENITAL MYOPATHY 25; CMYO25", "OMIM:620965": "SMALL VCP-INTERACTING PROTEIN; SVIP", "OMIM:620966": "TLC DOMAIN-CONTAINING PROTEIN 1; TLCD1", "OMIM:620967": "TLC DOMAIN-CONTAINING PROTEIN 2; TLCD2", "OMIM:620968": "MICROPHTHALMIA/COLOBOMA 13; MCOPCB13", "OMIM:620969": "ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb; CDAN4B", "OMIM:620970": "ZINC FINGER PROTEIN 808; ZNF808", "OMIM:620971": "MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2; MMCKR2", "OMIM:620972": "ZINC FINGER PROTEIN 608; ZNF608", "OMIM:620973": "SYNAPTOTAGMIN-LIKE 3; SYTL3", "OMIM:620974": "ZINC FINGER PROTEIN 862; ZNF862", "OMIM:620975": "BLOOD GROUP, ANTON SYSTEM", "OMIM:620976": "ZINC FINGER PROTEIN 740; ZNF740", "OMIM:620977": "IMMUNODEFICIENCY 127; IMD127", "OMIM:620978": "LEUKODYSTROPHY, HYPOMYELINATING, 28; HLD28", "OMIM:620979": "TRIPARTITE MOTIF FAMILY-LIKE PROTEIN 1; TRIML1", "OMIM:620980": "ZINC FINGER PROTEIN 414; ZNF414", "OMIM:620981": "ZINC FINGER PROTEIN 697; ZNF697", "OMIM:620982": "ZINC FINGER PROTEIN 385C; ZNF385C", "OMIM:620983": "IMMUNODEFICIENCY 128; IMD128", "OMIM:620984": "BRONCHIECTASIS AND NASAL POLYPOSIS; BENP", "OMIM:620985": "KARAYOL-BORROTO-HAGHSHENAS NEURODEVELOPMENTAL SYNDROME; KBHS", "OMIM:620986": "T-SNARE DOMAIN-CONTAINING PROTEIN 1; TSNARE1", "OMIM:620987": "NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES; NDOABA", "OMIM:620988": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 75; MRD75", "OMIM:620989": "SERPIN FAMILY E, MEMBER 3; SERPINE3", "OMIM:620990": "ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 3; AIMAH3", "OMIM:620991": "PANCREATIC AGENESIS 3; PAGEN3", "OMIM:620992": "SAFB-LIKE TRANSCRIPTION MODULATOR; SLTM", "OMIM:620993": "CHD2-ADJACENT SUPPRESSIVE REGULATORY RNA; CHASERR", "OMIM:620994": "RUN AND FYVE DOMAINS-CONTAINING PROTEIN 4; RUFY4", "OMIM:620995": "SET DOMAIN-CONTAINING PROTEIN 4; SETD4", "OMIM:620996": "RETINITIS PIGMENTOSA 98; RP98", "OMIM:620997": "SEMAPHORIN 3G; SEMA3G", "OMIM:620998": "ZINC FINGER PROTEIN 230; ZNF230", "OMIM:620999": "FIBROMATOSIS, GINGIVAL, 6; GINGF6", "OMIM:621000": "SORTING NEXIN 18; SNX18", "OMIM:621001": "SPERMATOGENIC FAILURE 96; SPGF96", "OMIM:621002": "PREMATURE OVARIAN FAILURE 25; POF25", "OMIM:621003": "TRANSCRIPTION FACTOR Sp9; SP9", "OMIM:621004": "AUTOIMMUNE DISEASE WITH SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS; AIMTBS", "OMIM:621005": "SOMATOMEDIN B AND THROMBOSPONDIN TYPE 1 DOMAIN-CONTAINING PROTEIN; SBSPON", "OMIM:621006": "RETROTRANSPOSON GAG-LIKE PROTEIN 6; RTL6", "OMIM:621007": "ZINC FINGER PROTEIN 800; ZNF800", "OMIM:621009": "KLF TRANSCRIPTION FACTOR 18; KLF18", "OMIM:621010": "MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME; MRMNS", "OMIM:621011": "SEC14 AND SPECTRIN DOMAINS-CONTAINING PROTEIN 1; SESTD1", "OMIM:621012": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES; NEDFSAB", "OMIM:621013": "TETRASPANIN 11; TSPAN11", "OMIM:621014": "ANKYRIN REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 2; ABTB2", "OMIM:621015": "RNA-BINDING MOTIF PROTEIN 48; RBM48", "OMIM:621016": "NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA; NEDFHCA", "OMIM:621017": "ZINC FINGER PROTEIN 334; ZNF334", "OMIM:621018": "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE; IBGC10", "OMIM:621019": "PRE-mRNA-PROCESSING FACTOR 40 HOMOLOG B; PRPF40B", "OMIM:621020": "RING FINGER PROTEIN 212B; RNF212B", "OMIM:621021": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES; IDDPMGS", "OMIM:621022": "FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER A; FAM83A", "OMIM:621023": "RNA-BINDING MOTIF PROTEIN 23; RBM23", "OMIM:621024": "PROTEIN PRENYLTRANSFERASE ALPHA SUBUNIT REPEAT-CONTAINING PROTEIN 1; PTAR1", "OMIM:621025": "RAB3A-INTERACTING PROTEIN-LIKE 1; RAB3IL1", "OMIM:621026": "RING FINGER PROTEIN 182; RNF182", "OMIM:621027": "CHOLESTEROL-INDUCED REGULATOR OF METABOLISM RNA, NONCODING; CHROMR", "OMIM:621028": "ANKYRIN REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 3; ABTB3", "OMIM:621029": "RING FINGER PROTEIN 183; RNF183", "OMIM:621030": "AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL DOMINANT; AIPDSA", "OMIM:621031": "POLYMERASE I, RNA, SUBUNIT E; POLR1E", "OMIM:621032": "CEREBRAL CAVERNOUS MALFORMATIONS 5; CCM5", "OMIM:621033": "NUP210-LIKE PROTEIN; NUP210L", "OMIM:621034": "NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION; NEDSVH", "OMIM:621035": "PROLINE-RICH PROTEIN 14-LIKE PROTEIN; PRR14L", "OMIM:621036": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 8; ABHD8", "OMIM:621037": "PROTEIN PHOSPHATASE 2C-LIKE DOMAIN-CONTAINING PROTEIN 1; PP2D1", "OMIM:621038": "RNA-BINDING MOTIF PROTEIN 44; RBM44", "OMIM:621039": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 13; ABHD13", "OMIM:621040": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 14B; ABHD14B", "OMIM:621041": "PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 3; PHLDB3", "OMIM:621042": "ALANINE- AND ARGININE-RICH DOMAIN-CONTAINING PROTEIN; AARD", "OMIM:621043": "PODOCAN-LIKE 1; PODNL1", "OMIM:621044": "RING FINGER PROTEIN 157; RNF157", "OMIM:621045": "RNA-BINDING MOTIF PROTEIN 4B; RBM4B", "OMIM:621046": "RIBONUCLEASE A FAMILY, MEMBER 10, INACTIVE; RNASE10", "OMIM:621047": "PEPTIDYL-tRNA HYDROLASE 1; PTRH1", "OMIM:621048": "POLO-LIKE KINASE 5, INACTIVE; PLK5", "OMIM:621049": "PAN-CHUNG-BELLEN SYNDROME; PCBS", "OMIM:621050": "ABHYDROLASE DOMAIN-CONTAINING PROTEIN 11; ABHD11", "OMIM:621051": "PARALEMMIN 3; PALM3", "OMIM:621052": "PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN N1; PLEKHN1", "OMIM:621053": "NEDD4-BINDING PROTEIN 2-LIKE 1; N4BP2L1", "OMIM:621054": "NUCLEAR RECEPTOR-INTERACTING PROTEIN 2; NRIP2", "OMIM:621055": "POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 1-LIKE; PABPC1L", "OMIM:621056": "TELANGIECTASIA, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, METAPHYSEAL DYSPLASIA, EYE ABNORMALITIES, AND SHORT STATURE; TIMES", "OMIM:621057": "SPERMATOGENIC FAILURE 97; SPGF97", "OMIM:621058": "NK1 HOMEOBOX 2; NKX1-2", "OMIM:621059": "UBIQUITIN FAMILY DOMAIN-CONTAINING PROTEIN 1; UBFD1", "OMIM:621060": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ABSENT SPEECH, AND HYPOTONIA; NEDMISH", "OMIM:621061": "LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT, ATYPICAL; ADLDAT", "OMIM:621062": "NPAS4 LONG NONCODING ENHANCER RNA", "OMIM:621063": "MUGGENTHALER-CHOWDHURY-CHIOZA SYNDROME; MCCS", "OMIM:621064": "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 19; EIG19", "OMIM:621065": "PREMATURE OVARIAN FAILURE 26; POF26", "OMIM:621066": "LYSOZYME G1; LYG1", "OMIM:621067": "NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES; NEDGSAF", "OMIM:621068": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA; NEDHGFA", "OMIM:621069": "OVOCHYMASE 1; OVCH1", "OMIM:621070": "OUT AT FIRST, DROSOPHILA, HOMOLOG OF; OAF", "OMIM:621071": "MITOCHONDRIAL DNA DEPLETION SYNDROME 21; MTDPS21", "OMIM:621072": "BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 8; BIRC8", "OMIM:621073": "SORTING NEXIN 32; SNX32", "OMIM:621074": "MITOTIC DEACETYLASE-ASSOCIATED SANT DOMAIN PROTEIN; MIDEAS", "OMIM:621075": "TRANSMEMBRANE PROTEIN 45B; TMEM45B", "OMIM:621076": "5-PRIME-NUCLEOTIDASE DOMAIN-CONTAINING PROTEIN 2; NT5DC1", "OMIM:621077": "5-PRIME-NUCLEOTIDASE DOMAIN-CONTAINING PROTEIN 2; NT5DC2", "OMIM:621078": "MYOPATHY, MYOFIBRILLAR, 13, WITH RIMMED VACUOLES; MFM13", "OMIM:621079": "HETEROTAXY, VISCERAL, 13, AUTOSOMAL; HTX13", "OMIM:621080": "HETEROTAXY, VISCERAL, 14, AUTOSOMAL; HTX14", "OMIM:621081": "IMMUNITY-RELATED GTPase Q; IRGQ", "OMIM:621082": "FANCD2 OPPOSITE STRAND; FANCD2OS", "OMIM:621083": "ISLET CELL AUTOANTIGEN 1-LIKE PROTEIN; ICA1L", "OMIM:621084": "ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 6; EML6", "OMIM:621085": "EXOCYST COMPLEX COMPONENT 3-LIKE 4; EXOC3L4", "OMIM:621086": "SPERMATOGENESIS-ASSOCIATED PROTEIN 24; SPATA24", "OMIM:621087": "DIHYDROURIDINE SYNTHASE 1-LIKE PROTEIN; DUS1L", "OMIM:621088": "SMALL NUCLEOLAR RNA HOST GENE 4; SNHG4", "OMIM:621089": "SMALL NUCLEOLAR RNA, H/ACA BOX, 74A; SNORA74A", "OMIM:621090": "RNA, U5B SMALL NUCLEAR 1; RNU5B-1", "OMIM:621091": "OCULAR PTERYGIUM-DIGITAL KELOID DYSPLASIA SYNDROME; OPDKD", "OMIM:621092": "IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 3; IQGAP3", "OMIM:621093": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 22; OZEMA22", "OMIM:621094": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15; HMND15", "OMIM:621095": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ; CMT2JJ", "OMIM:621096": "IMMUNODEFICIENCY 132B; IMD132B", "OMIM:621097": "IMMUNODEFICIENCY 131; IMD131", "OMIM:621098": "V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 8; VSIG8", "OMIM:621099": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LI-SHAO-LI TYPE; SEMDLSL", "OMIM:621100": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 83; MRT83", "OMIM:621101": "PERRAULT SYNDROME 7; PRLTS7", "OMIM:621102": "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES; NEDPSB", "OMIM:621103": "GOLGI-ASSOCIATED RAB2 INTERACTOR FAMILY, MEMBER 5B; GARIN5B", "OMIM:621104": "DIHYDROURIDINE SYNTHASE 3-LIKE PROTEIN; DUS3L", "OMIM:621105": "ETS VARIANT TRANSCRIPTION FACTOR 3-LIKE; ETV3L", "OMIM:621106": "TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 6; ADTKD6", "OMIM:621107": "HEMICENTIN 2; HMCN2", "OMIM:621108": "DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 18; DNAJC2", "OMIM:621109": "VCP NUCLEAR COFACTOR FAMILY, MEMBER 1; VCF1", "OMIM:621110": "VITELLINE MEMBRANE OUTER LAYER PROTEIN 1 HOMOLOG; VMO1", "OMIM:621111": "OOCYTE-SECRETED PROTEIN 1; OOSP1", "OMIM:621112": "OOCYTE-SECRETED PROTEIN 3; OOSP3", "OMIM:621113": "VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 3A; VWA3A", "OMIM:621114": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 144; CFAP144", "OMIM:621115": "RIB43A DOMAIN WITH COILED-COILS PROTEIN 2; RIBC2", "OMIM:621116": "DTW DOMAIN-CONTAINING PROTEIN 1; DTWD1", "OMIM:621117": "DTW DOMAIN-CONTAINING PROTEIN 2; DTWD2", "OMIM:621118": "V-SET AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 5; VSTM5", "OMIM:621119": "ENKURIN DOMAIN-CONTAINING PROTEIN 1; ENKD1", "OMIM:621120": "DELTA-LIKE NONCANONICAL NOTCH LIGAND 2; DLK2", "OMIM:621121": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 54; CFAP54", "OMIM:621122": "PAUL-CHAO NEURODEVELOPMENTAL SYNDROME; NEDPACH", "OMIM:621123": "ACHALASIA-PROGEROID SYNDROME; ACHPS", "OMIM:621124": "SPERMATOGENIC FAILURE 98; SPGF98", "OMIM:621125": "CILIARY DYSKINESIA, PRIMARY, 54; CILD54", "OMIM:621126": "TESTIS-EXPRESSED GENE 38; TEX38", "OMIM:621127": "BBX HIGH MOBILITY GROUP BOX DOMAIN-CONTAINING PROTEIN; BBX", "OMIM:621128": "ZINC FINGER PROTEIN 248; ZNF248", "OMIM:621129": "NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY; CONDRHN", "OMIM:621130": "FISCHER-ZIRNSAK PROGEROID SYNDROME; FZPS", "OMIM:621131": "IQ MOTIF-CONTAINING PROTEIN F1; IQCF1", "OMIM:621132": "ACTIN-LIKE 8; ACTL8", "OMIM:621133": "OPIOID GROWTH FACTOR RECEPTOR-LIKE PROTEIN 1; OGFRL1", "OMIM:621134": "ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 18; ASB18", "OMIM:621135": "CHROMOSOME 1 OPEN READING FRAME 185; C1ORF185", "OMIM:621136": "CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 77; CFAP77", "OMIM:621137": "COILED-COIL DOMAIN-CONTAINING PROTEIN 18; CCDC18", "OMIM:621138": "COILED-COIL DOMAIN-CONTAINING PROTEIN 127; CCDC127", "OMIM:621139": "COILED-COIL DOMAIN-CONTAINING PROTEIN 178; CCDC178", "OMIM:621140": "CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1EE WITH OR WITHOUT IMMUNODEFICIENCY; CDG1EE", "OMIM:621141": "COILED-COIL DOMAIN-CONTAINING PROTEIN 180; CCDC180", "OMIM:621142": "CHROMOSOME 15 OPEN READING FRAME 39; C15ORF39", "OMIM:621143": "HOLOPROSENCEPHALY 10; HPE10", "OMIM:621144": "COILED-COIL DOMAIN-CONTAINING PROTEIN 158; CCDC158", "OMIM:621145": "BTB DOMAIN-CONTAINING PROTEIN 18; BTBD18", "OMIM:621146": "COILED-COIL DOMAIN-CONTAINING PROTEIN 15; CCDC15", "OMIM:621147": "COILED-COIL DOMAIN-CONTAINING PROTEIN 102B; CCDC102B", "OMIM:621148": "CHROMOSOME 16 OPEN READING FRAME 89; C16ORF89", "OMIM:621149": "CHROMOSOME 6 OPEN READING FRAME 58; C6ORF58", "OMIM:621150": "NEURODEVELOPMENTAL DISORDER WITH THIN CORPUS CALLOSUM, HYPOTONIA, AND ABSENT LANGUAGE; NEDTCHAL", "OMIM:621151": "ARYLFORMAMIDASE; AFMID", "OMIM:621152": "NEURODEVELOPMENTAL DISORDER WITH WHITE MATTER ABNORMALITIES AND GAIT DISTURBANCE; NEDWMG", "OMIM:621153": "CARBOXYLESTERASE 4A; CES4A", "OMIM:621154": "NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SEIZURES, AND BRAIN ABNORMALITIES; NEDGSB", "OMIM:621155": "ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 4; AGAP4", "OMIM:621156": "ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 5; AGAP5", "OMIM:621157": "ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 6; AGAP6", "OMIM:621158": "ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 9; AGAP9", "OMIM:621159": "ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 11, NONCODING; AGAP11", "OMIM:621160": "DIARRHEA 14, CONGENITAL; DIAR14", "OMIM:621161": "TUBULIN, ALPHA-1C; TUBA1C", "OMIM:621162": "AARF DOMAIN-CONTAINING KINASE 2; ADCK2", "OMIM:621163": "ADIPOGENESIS REGULATORY FACTOR; ADIRF", "OMIM:621164": "POLYCYSTIC KIDNEY DISEASE 9, SUSCEPTIBILITY TO; PKD9", "OMIM:621165": "AARF DOMAIN-CONTAINING KINASE 5; ADCK5", "OMIM:621166": "BPI FOLD-CONTAINING PROTEIN, FAMILY A, MEMBER 2; BPIFA2", "OMIM:621167": "BPI FOLD-CONTAINING PROTEIN, FAMILY A, MEMBER 3; BPIFA3", "OMIM:621168": "BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 1; BPIFB1", "OMIM:621169": "MONILETHRIX 2; MNLIX2", "OMIM:621170": "MONILETHRIX 3; MNLIX3", "OMIM:621171": "ADRENOMEDULLIN 5, PUTATIVE; ADM5", "OMIM:621172": "RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 39; ARHGEF39", "OMIM:621173": "G PROTEIN-COUPLED RECEPTOR 146; GPR146", "OMIM:621174": "CHOLESIN; CHLSN", "OMIM:621175": "LYSINE-RICH COILED-COIL PROTEIN 1; KRCC1", "OMIM:621176": "MYC-INDUCIBLE LONG NONCODING RNA INACTIVATING p53; MILIP", "OMIM:621177": "PROLINE-RICH PROTEIN 19; PRR19", "OMIM:621178": "TRANSMEMBRANE PROTEIN 161B; TMEM161B", "OMIM:621179": "DIARRHEA 15, CONGENITAL; DIAR15", "OMIM:621180": "CRANIOECTODERMAL DYSPLASIA 5; CED5", "OMIM:621181": "NF-KAPPA-B-INTERACTING LONG NONCODING RNA; NKILA", "OMIM:621182": "NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES; NEDSFB", "OMIM:621183": "G-PATCH DOMAIN-CONTAINING PROTEIN 11; GPATCH11", "OMIM:621184": "TAYOUN-MAAWALI SYNDROME; TYMAS", "OMIM:621185": "HOUGE-JANSSENS SYNDROME 4; HJS4", "OMIM:621186": "PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 1 PSEUDOGENE 3; PEBP1P3", "OMIM:621187": "OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY B, MEMBER 2; OR51B2", "OMIM:621188": "ZINC FINGER CW-TYPE DOMAIN- AND PWWP DOMAIN-CONTAINING PROTEIN 2; ZCWPW2", "OMIM:621189": "LONG INTERGENIC NONCODING RNA 2525; LINC02525", "OMIM:621190": "MICRO RNA 617; MIR617", "OMIM:621191": "LEUKODYSTROPHY AND CEREBELLAR ATROPHY; LDCA", "OMIM:621192": "CRANIOFACIOCARDIOHEPATIC SYNDROME; CFCHS", "OMIM:621193": "FICUS SYNDROME; FICUS", "OMIM:621194": "SPERMATOGENIC FAILURE 99; SPGF99", "OMIM:621195": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60; COXPD60", "OMIM:621196": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 12; MODY12", "OMIM:621197": "BEN DOMAIN-CONTAINING PROTEIN 4; BEND4", "OMIM:621198": "BEN DOMAIN-CONTAINING PROTEIN 5; BEND5", "OMIM:621199": "NEURODEVELOPMENTAL DISORDER WITH ATAXIA AND BRAIN ABNORMALITIES; NEDAXBA", "OMIM:621200": "ZINC FINGER PROTEIN 385D; ZNF385D", "OMIM:621201": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, BRAIN ANOMALIES, AND SEIZURES; NEDFBS", "OMIM:621202": "CHROMOSOME 10 OPEN READING FRAME 71; C10ORF71", "OMIM:621203": "MEIOSIS INITIATOR; MEIOSIN", "OMIM:621204": "MICRO RNA 129-1; MIR129-1", "OMIM:621205": "MICRO RNA 129-2; MIR129-2", "OMIM:621206": "TRANSMEMBRANE AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 1; TMIGD1", "OMIM:621207": "TRANSMEMBRANE AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 3; TMIGD3", "OMIM:621208": "CHROMOSOME 19 OPEN READING FRAME 44; C19ORF44", "OMIM:621209": "SPERMATOGENIC FAILURE 100; SPGF100", "OMIM:621210": "PU.1 (SPI1)-INDUCED REGULATOR OF S100A8 AND S100A9 ALARMIN TRANSCRIPTION 1, NONCODING; PIRAT1", "OMIM:621211": "ADP-RIBOSE/CDP-ALCOHOL DIPHOSPHATASE, MANGANESE-DEPENDENT; ADPRM", "OMIM:621212": "LI-TAKADA-MIYAKE SYNDROME; LTMS", "OMIM:621213": "FAMILY WITH SEQUENCE SIMILARITY 171, MEMBER A2; FAM171A2", "OMIM:621214": "LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, WITHOUT AMYLOID ANGIOPATHY; ADLDWA", "OMIM:621215": "NANOG HOMEOBOX RETROGENE P8; NANOGP8", "OMIM:621216": "PLAQUE-ENRICHED LONG NONCODING RNA IN ATHEROSCLEROTIC AND INFLAMMATORY BOWEL MACROPHAGE REGULATION; PELATON", "OMIM:621217": "BEN DOMAIN-CONTAINING PROTEIN 6; BEND6", "OMIM:621218": "RIBONUCLEASE MRP SUBUNIT p24; RMP24", "OMIM:621219": "TRANSMEMBRANE PROTEIN 179; TMEM179", "OMIM:621220": "GUILLOUET-GORDON SYNDROME; GGNS", "OMIM:621221": "STX18 ANTISENSE RNA 1, NONCODING; STX18AS1", "OMIM:621222": "LINE1-TYPE TRANSPOSASE DOMAIN-CONTAINING PROTEIN 1; L1TD1", "OMIM:621223": "ALLOGRAFT INFLAMMATORY FACTOR 1-LIKE PROTEIN; AIF1L", "OMIM:621224": "ECTODERMAL DYSPLASIA 17 WITH OR WITHOUT LIMB MALFORMATIONS; ECTD17", "OMIM:621225": "CONGENITAL MYOPATHY 26; CMYO26", "OMIM:621226": "SPASTIC ATAXIA 11, AUTOSOMAL DOMINANT; SPAX11", "OMIM:621227": "OLEOYL-ACP HYDROLASE; OLAH", "OMIM:621228": "LONG INTERGENIC NONCODING RNA 1013; LINC01013", "OMIM:621229": "GATA2 ANTISENSE RNA 1, NONCODING; GATA2AS1", "OMIM:621231": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 23; OZEMA23", "OMIM:621232": "OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 24; OZEMA24", "MONDO:0003426": "clear cell adenoma", "MONDO:0006685": "brain hypoxia - ischemia", "MONDO:0005366": "chronic hepatitis B infection", "MONDO:0003335": "chronic polyneuropathy", "MONDO:0004136": "ovarian endometrioid cystadenoma", "MONDO:0004006": "rete ovarii cystadenofibroma", "MONDO:0044786": "solid pseudopapillary neoplasm of the pancreas", "MONDO:0005467": "occupation-related stress disorder", "MONDO:0000239": "adiaspiromycosis", "MONDO:0005290": "rhabdomyolysis (disease)", "MONDO:0002853": "rectum rhabdomyosarcoma", "MONDO:0008868": "biliary malformation with renal tubular insufficiency", "MONDO:0025114": "protozoan infections, animal", "MONDO:0027766": "generalized lipodystrophy", "MONDO:0005542": "acute coronary syndrome", "MONDO:0000677": "semantic agnosia", "MONDO:0001966": "chronic closed-angle glaucoma", "MONDO:0001388": "glans penis cancer", "MONDO:0005418": "non-compaction cardiomyopathy", "MONDO:0002808": "pancreatic serous cystadenoma", "MONDO:0003083": "venous hemangioma", "MONDO:0023235": "giant congenital nevus", "MONDO:0001645": "crescentic glomerulonephritis (disease)", "MONDO:0000789": "Atlantic cod allergy", "MONDO:0002605": "hepatic angiomyolipoma", "MONDO:0007016": "vitamin A deficiency (disease)", "MONDO:0000459": "mesenchymal glioblastoma", "MONDO:0100081": "sleep disorder", "MONDO:0003894": "mediastinal melanocytic neurilemmoma", "MONDO:0001646": "benign secondary hypertension", "MONDO:0000746": "inguinal hernia", "MONDO:0002331": "nephrosis", "MONDO:0024613": "bipolar depression", "MONDO:0000970": "breast lipoma", "MONDO:0001728": "active vestibular Meniere disease", "MONDO:0004747": "cleft lip (disease)", "MONDO:0044750": "lassa virus infectious disease", "MONDO:0003126": "breast hemangioma", "MONDO:0005161": "human papilloma virus infection", "MONDO:0021050": "vaginal neoplasm", "MONDO:0004336": "rectal signet ring cell adenocarcinoma", "MONDO:0022645": "cardioencephalomyopathy", "MONDO:0003885": "colorectal lipoma", "MONDO:0004712": "herpes simplex dermatitis", "MONDO:0006906": "pigmented villonodular synovitis", "MONDO:0002280": "anemia (disease)", "MONDO:0004307": "sarcomatosis of the meninges", "MONDO:0022817": "congenital amputation", "MONDO:0043275": "TORCH syndrome", "MONDO:0043280": "Wallerian degeneration", "MONDO:0001279": "intraspinal meningioma", "MONDO:0001039": "tonsillitis", "MONDO:0045053": "osteogenic neoplasm", "MONDO:0003722": "internal auditory canal meningioma", "MONDO:0016962": "partial duplication of the long arm of chromosome 11", "MONDO:0021284": "carcinoma in situ of ureter", "MONDO:0001257": "retinal microaneurysm", "MONDO:0003446": "papillary hidradenoma", "MONDO:0006677": "bile reflux", "MONDO:0005623": "autoimmune thyroid disease", "MONDO:0005003": "chronic pancreatitis", "MONDO:0006418": "small intestinal enteropathy-associated T-cell lymphoma", "MONDO:0000790": "Atlantic salmon allergy", "MONDO:0010376": "Brooks-Wisniewski-brown syndrome", "MONDO:0000295": "acanthocephaliasis", "MONDO:0001626": "traumatic glaucoma", "MONDO:0001519": "entropion (disease)", "MONDO:0002937": "nodular basal cell carcinoma", "MONDO:0022723": "chondrodysplasia", "MONDO:0023224": "inherited reflex epilepsy", "MONDO:0024878": "secondary carcinoma", "MONDO:0006653": "anthracosilicosis", "MONDO:0004134": "benign dermal neurilemmoma", "MONDO:0003699": "phobic disorder", "MONDO:0006798": "hypervitaminosis A", "MONDO:0006174": "cortisol-producing adrenal cortex adenoma", "MONDO:0004992": "cancer", "MONDO:0001380": "bladder dome cancer", "MONDO:0003354": "heart sarcoma", "MONDO:0023091": "esophageal atresia coloboma talipes", "MONDO:0001059": "gastric lymphoma", "MONDO:0003915": "cortical thymoma", "MONDO:0006036": "granulosa cell tumor", "MONDO:0005985": "Togaviridae infectious disease", "MONDO:0018580": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "MONDO:0000605": "hypersensitivity reaction disease", "MONDO:0024285": "epsilon-heavy chain disease", "MONDO:0021824": "adult progressive spinal muscular atrophy, Aran Duchenne type", "MONDO:0044811": "idiopathic torsion dystonia", "MONDO:0002976": "stomach diverticulosis", "MONDO:0004312": "suprasellar meningioma", "MONDO:0021570": "Hauptmann-Thannhauser muscular dystrophy", "MONDO:0001251": "chronic apical periodontitis", "MONDO:0005962": "skeletal tuberculosis", "MONDO:0003715": "bladder urachal carcinoma", "MONDO:0003564": "localized pulmonary fibrosis", "MONDO:0004917": "internal hordeolum", "MONDO:0000234": "Rickettsia parkeri spotted fever", "MONDO:0024618": "poliovirus infection", "MONDO:0021452": "benign neoplasm of cornea", "MONDO:0006747": "enterotoxemia", "MONDO:0002636": "accessory nerve disease", "MONDO:0022500": "arthrogryposis multiplex congenita CNS calcification", "MONDO:0021131": "frontal lobe ependymal tumor", "MONDO:0016725": "pineal parenchymal tumor of intermediate differenciation", "MONDO:0001096": "mediastinum ganglioneuroblastoma", "MONDO:0004452": "childhood central nervous system germinoma", "MONDO:0022939": "deafness hyperuricemia neurologic ataxia", "MONDO:0001314": "chondrocalcinosis", "MONDO:0003788": "childhood embryonal testis carcinoma", "MONDO:0003155": "cavernous hemangioma", "MONDO:0005534": "ileocolitis", "MONDO:0044808": "early onset primary dystonia", "MONDO:0003540": "acute T cell leukemia", "MONDO:0004777": "acute laryngitis", "MONDO:0021112": "scrotum cancer", "MONDO:0043071": "zazam sheriff phillips syndrome", "MONDO:0003548": "adenosquamous breast carcinoma", "MONDO:0001778": "dermoid cyst of skin", "MONDO:0000561": "spinocerebellar ataxia type 16", "MONDO:0006537": "conjunctival pigmentation", "MONDO:0002185": "hyperostosis", "MONDO:0006929": "Proteus infectious disease", "MONDO:0043294": "linear scleroderma", "MONDO:0021966": "baker Vinters syndrome", "MONDO:0002519": "anus disease", "MONDO:0003960": "pulmonary large cell neuroendocrine carcinoma", "MONDO:0056803": "sulfur metabolism disease", "MONDO:0004249": "pediatric supratentorial ependymoma", "MONDO:0022196": "chronic erosive gastritis", "MONDO:0043103": "hypothyroidism due to iodide transport defect", "MONDO:0005558": "ovarian disease", "MONDO:0005292": "colitis (disease)", "MONDO:0003676": "inferolateral myocardial infarct", "MONDO:0005941": "retroperitoneal cancer", "MONDO:0001880": "median rhomboid glossitis", "MONDO:0002132": "skull cancer", "MONDO:0021498": "benign neoplasm of placenta", "MONDO:0000756": "parameningeal embryonal rhabdomyosarcoma", "MONDO:0002594": "monkeypox", "MONDO:0021053": "carotid body paraganglioma", "MONDO:0044975": "disease of transporter activity", "MONDO:0018052": "hypoplastic tibiae-postaxial polydactyly syndrome", "MONDO:0000265": "aspiration pneumonia (disease)", "MONDO:0002770": "vaginal discharge", "MONDO:0002650": "scrotal carcinoma", "MONDO:0004306": "childhood intracortical osteosarcoma", "MONDO:0022337": "AIDS dysmorphic syndrome", "MONDO:0056820": "nasal cavity and paranasal sinus neoplasm", "MONDO:0003075": "bilateral retinoblastoma", "MONDO:0024685": "Philadelphia-positive myelogenous leukemia", "MONDO:0020979": "pilosebaceous hamartoma", "MONDO:0010249": "X-linked B cell surface antigen, mouse, homolog-like 1", "MONDO:0001660": "proliferative diabetic retinopathy", "MONDO:0000921": "ampulla of vater neoplasm", "MONDO:0100039": "CDKL5 disorder", "MONDO:0001571": "gynecomastia", "MONDO:0006216": "gallbladder adenoma", "MONDO:0021404": "polyp of sphenoidal sinus", "MONDO:0001504": "fetishism", "MONDO:0009831": "malignant pancreatic neoplasm", "MONDO:0044765": "steroid-resistant nephrotic syndrome", "MONDO:0003391": "vulvar alveolar soft part sarcoma", "MONDO:0003141": "cerebellopontine angle embryonal tumor", "MONDO:0006139": "cervical metaplasia", "MONDO:0004215": "cutaneous anthrax", "MONDO:0013816": "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques", "MONDO:0000777": "gastrointestinal allergy", "MONDO:0022435": "Mauriac syndrome", "MONDO:0004569": "brachial plexus neuropathy from injury", "MONDO:0001986": "Argyll Robertson pupil", "MONDO:0005108": "viral infectious disease", "MONDO:0004008": "flat ductal epithelial atypia", "MONDO:0042724": "macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations", "MONDO:0001342": "dysgammaglobulinemia (disease)", "MONDO:0010419": "X-linked sideroblastic anemia", "MONDO:0001929": "ascending cholangitis", "MONDO:0001108": "broad ligament malignant neoplasm", "MONDO:0024327": "chronic renal failure syndrome", "MONDO:0043247": "Mallory-Weiss syndrome", "MONDO:0001118": "Queensland tick typhus", "MONDO:0001564": "binocular vision disease", "MONDO:0000602": "autoimmune disease of blood", "MONDO:0006869": "nodular goiter (disease)", "MONDO:0000599": "writing disorder", "MONDO:0005643": "Alphavirus infectious disease", "MONDO:0004828": "lower urinary tract calculus", "MONDO:0001412": "conjunctival concretion", "MONDO:0036696": "spleen neoplasm", "MONDO:0005608": "varicella zoster infection", "MONDO:0002923": "uterine corpus endometrial stromal sarcoma", "MONDO:0005152": "hypopituitarism", "MONDO:0006302": "micropapillary serous carcinoma", "MONDO:0006179": "desmoplastic ameloblastoma", "MONDO:0003678": "silent myocardial infarction", "MONDO:0002202": "outlet dysfunction constipation", "MONDO:0001520": "kleptomania", "MONDO:0021664": "cervical aortic arch", "MONDO:0006872": "nut allergic reaction", "MONDO:0005007": "colon mucinous adenocarcinoma", "MONDO:0045021": "sucrose intolerance disease", "MONDO:0008284": "polyposis of gastric fundus without polyposis coli", "MONDO:0001902": "congenital agammaglobulinemia", "MONDO:0000248": "dengue shock syndrome", "MONDO:0022380": "acute lymphoblastic leukemia congenital sporadic aniridia", "MONDO:0006483": "urothelial dysplasia", "MONDO:0025556": "isocyanate induced asthma", "MONDO:0024757": "cardiovascular neoplasm", "MONDO:0002341": "granulomatous angiitis", "MONDO:0003273": "sternum cancer", "MONDO:0003215": "apocrine sweat gland cancer", "MONDO:0022458": "annular constricting bands", "MONDO:0005481": "contact dermatitis due to nickel", "MONDO:0003478": "childhood ependymoma", "MONDO:0024616": "tympanitis", "MONDO:0021645": "esophageal varices with bleeding", "MONDO:0011108": "Stüve-Wiedemann syndrome", "MONDO:0021420": "polyp of vocal cord", "MONDO:0002200": "eccrine mixed tumor of skin", "MONDO:0022899": "crawfurd syndrome", "MONDO:0001612": "carotid stenosis", "MONDO:0023575": "Krauss Herman Holmes syndrome", "MONDO:0005655": "ascaridiasis", "MONDO:0002377": "breast intracanalicular fibroadenoma", "MONDO:0021297": "carcinoma in situ of nasopharynx", "MONDO:0005671": "Blastocystis infectious disease", "MONDO:0004448": "frontal sinus inverted papilloma", "MONDO:0005117": "Aeromonas hydrophila infectious disease", "MONDO:0002495": "colon signet ring cell adenocarcinoma", "MONDO:0020584": "anemia due to enzyme disorder", "MONDO:0024348": "pityriasis capitis", "MONDO:0002154": "trichomoniasis", "MONDO:0000891": "mixed fibrolamellar hepatocellular carcinoma", "MONDO:0006180": "digestive system adenoma", "MONDO:0001712": "alexia", "MONDO:0000224": "acquired carbohydrate metabolism disease", "MONDO:0003818": "childhood mature teratoma of the ovary", "MONDO:0002382": "benign mesenchymoma", "MONDO:0001885": "lateral cystocele", "MONDO:0001052": "chronic fungal otitis externa", "MONDO:0021244": "submandibular gland neoplasm", "MONDO:0002176": "connective tissue cancer", "MONDO:0005611": "bladder transitional cell carcinoma", "MONDO:0006980": "struma ovarii", "MONDO:0003127": "embryoma", "MONDO:0021522": "benign neoplasm of lower jaw bone", "MONDO:0003462": "papillary adenofibroma", "MONDO:0004186": "cranial nodular fasciitis", "MONDO:0003882": "central nervous system fibrosarcoma", "MONDO:0002836": "urethra transitional cell carcinoma", "MONDO:0005327": "hip fracture", "MONDO:0003492": "lacrimal gland squamous cell carcinoma", "MONDO:0001129": "nasal cavity olfactory neuroblastoma", "MONDO:0021204": "chronic otitis media", "MONDO:0002291": "cutaneous granular cell tumor", "MONDO:0005322": "ulna fracture", "MONDO:0001567": "nephrocalcinosis", "MONDO:0021470": "benign neoplasm of pancreas", "MONDO:0044787": "nasal cavity and paranasal sinus squamous cell carcinoma", "MONDO:0006907": "pilar sheath acanthoma", "MONDO:0005826": "lipid pneumonia", "MONDO:0005253": "high output heart failure", "MONDO:0044843": "torsion dystonia", "MONDO:0010205": "Wolman disease with hypolipoproteinemia and acanthocytosis", "MONDO:0002785": "skull base neoplasm", "MONDO:0004756": "nasal cavity neoplasm", "MONDO:0006669": "bacterial endocarditis (disease)", "MONDO:0001953": "pyuria (disease)", "MONDO:0002437": "dehydration polycythemia", "MONDO:0021235": "external ear neoplasm", "MONDO:0000595": "sexual disorder", "MONDO:0044345": "Schistosoma mansoni infectious disease", "MONDO:0000118": "reticulate pigment disorder", "MONDO:0004705": "liver solitary fibrous tumor", "MONDO:0037740": "malignant central nervous system mesenchymal, non-meningothelial neoplasm", "MONDO:0036976": "benign epithelial neoplasm", "MONDO:0003024": "breast angiosarcoma", "MONDO:0025089": "infectious bovine rhinotracheitis", "MONDO:0000104": "anemia, hypochromic microcytic with iron overload", "MONDO:0043287": "superior vena cava syndrome", "MONDO:0003482": "Pediculus humanus corporis infestation", "MONDO:0001879": "anus cancer", "MONDO:0005192": "exocrine pancreatic carcinoma", "MONDO:0003293": "lung leiomyoma", "MONDO:0006186": "duodenal adenocarcinoma", "MONDO:0023263": "glyceraldehyde-3-phosphate dehydrogenase deficiency", "MONDO:0003909": "Bartholin gland adenomyoma", "MONDO:0001249": "trachoma", "MONDO:0008824": "fetal akinesia deformation sequence", "MONDO:0005640": "akinetic mutism", "MONDO:0001365": "necrosis of ear ossicle", "MONDO:0006706": "Bifidobacteriales infectious disease", "MONDO:0000750": "dental abscess", "MONDO:0022560": "benign metastasizing leiomyoma", "MONDO:0000553": "uterine corpus endometrial carcinoma", "MONDO:0024934": "fish disease", "MONDO:0021402": "polyp of external auditory canal", "MONDO:0000978": "extrahepatic bile duct lipoma", "MONDO:0021241": "buccal mucosa neoplasm", "MONDO:0001639": "deficiency anemia", "MONDO:0021041": "pleural solitary fibrous tumor", "MONDO:0022908": "cutis gyratum acanthosis nigricans craniosynostosis", "MONDO:0006527": "anhidrosis", "MONDO:0005417": "wet macular degeneration", "MONDO:0003992": "childhood botryoid rhabdomyosarcoma", "MONDO:0045047": "neurosarcoidosis", "MONDO:0021190": "DNA repair disease", "MONDO:0042970": "disorder of glutamate decarboxylase", "MONDO:0004896": "esotropia", "MONDO:0004635": "postcricoid region cancer", "MONDO:0001078": "tropical sprue", "MONDO:0021121": "hemangioendothelioma", "MONDO:0004010": "infiltrating renal pelvis/ureter urothelial carcinoma", "MONDO:0002536": "skin papilloma", "MONDO:0003573": "pleomorphic carcinoma", "MONDO:0004822": "bronchiectasis", "MONDO:0021913": "aquagenic pruritus", "MONDO:0001541": "plantar nerve lesion", "MONDO:0011127": "Bartter disease type 1", "MONDO:0004049": "combat disorder", "MONDO:0004471": "bacterial arthritis", "MONDO:0006470": "tonsillar squamous cell carcinoma", "MONDO:0005746": "enterobiasis", "MONDO:0004001": "compartment syndrome", "MONDO:0024621": "serous cystadenocarcinoma", "MONDO:0005203": "ischemia reperfusion injury", "MONDO:0007432": "CADASIL", "MONDO:0001210": "enophthalmos (disease)", "MONDO:0001385": "cortical blindness", "MONDO:0023194": "frints de Smet Fabry Fryns syndrome", "MONDO:0001647": "benign renovascular hypertension", "MONDO:0006155": "colon neuroendocrine tumor G1", "MONDO:0006121": "calcifying fibrous tumor", "MONDO:0006733": "dry eye syndrome", "MONDO:0006742": "endemic goiter", "MONDO:0006088": "appendix adenoma", "MONDO:0021155": "X-linked cone-rod dystrophy", "MONDO:0100025": "epilepsy of infancy with migrating focal seizures", "MONDO:0016036": "Ledderhose disease", "MONDO:0005424": "elephantiasis", "MONDO:0004724": "submandibular gland cancer", "MONDO:0003634": "proteinuria", "MONDO:0003236": "atypical polypoid adenomyoma", "MONDO:0003377": "extrahepatic bile duct leiomyosarcoma", "MONDO:0005566": "neonatal abstinence syndrome", "MONDO:0004429": "skin meningioma", "MONDO:0001634": "bladder leiomyoma", "MONDO:0003289": "deep leiomyoma", "MONDO:0004782": "diabetes insipidus", "MONDO:0004297": "lymphoepithelioma-like thymic carcinoma", "MONDO:0004678": "dermatophytosis", "MONDO:0002985": "pustulosis of palm and sole", "MONDO:0000488": "periampullary adenoma", "MONDO:0002544": "brain oligodendroglioma", "MONDO:0003464": "cystadenofibroma", "MONDO:0002913": "cerebellar neoplasm", "MONDO:0000675": "pain agnosia", "MONDO:0000337": "exanthema subitum", "MONDO:0001256": "arteriovenous hemangioma/malformation", "MONDO:0030706": "Trichomonas cystitis", "MONDO:0001402": "vaginal cancer", "MONDO:0001068": "osteomalacia (disease)", "MONDO:0006618": "vibratory urticaria", "MONDO:0004292": "supraglottis verrucous carcinoma", "MONDO:0000283": "Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type", "MONDO:0002447": "endometrial carcinoma (disease)", "MONDO:0002670": "ampulla of vater adenocarcinoma", "MONDO:0001158": "obsessive-compulsive personality disorder", "MONDO:0002965": "parovarian cyst", "MONDO:0021725": "Abderhalden-Kaufmann-Lignac syndrome", "MONDO:0016754": "vestibular schwannoma (disease)", "MONDO:0020810": "congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome", "MONDO:0017681": "erythrokeratoderma variabilis progressiva", "MONDO:0020601": "mosquito-borne viral encephalitis", "MONDO:0023227": "gestational diabetes insipidus", "MONDO:0023554": "acquired testicular failure", "MONDO:0004353": "extrahepatic biliary papillomatosis", "MONDO:0001303": "abnormal pupillary function (disease)", "MONDO:0004091": "skin basaloid carcinoma", "MONDO:0005990": "tracheitis", "MONDO:0005986": "torovirus infectious disease", "MONDO:0003012": "sarcomatoid renal cell carcinoma", "MONDO:0043264": "post-traumatic epilepsy", "MONDO:0001028": "acute pericementitis", "MONDO:0024661": "tubulovillous adenoma", "MONDO:0005883": "ophthalmic herpes zoster", "MONDO:0024386": "large cell lung carcinoma, clear cell variant", "MONDO:0044974": "disease of supramolecular complex", "MONDO:0044744": "prekallikrein deficiency", "MONDO:0004333": "pancreatic ACTH-producing neuroendocrine tumor", "MONDO:0004390": "ocular hypotension", "MONDO:0005208": "amelanotic skin melanoma", "MONDO:0006804": "inflammatory breast carcinoma", "MONDO:0003312": "ovarian endometrioid stromal and related neoplasms", "MONDO:0004971": "adenoid cystic carcinoma", "MONDO:0021950": "autoimmune oophoritis", "MONDO:0011278": "bile duct cysts", "MONDO:0006894": "patellofemoral pain syndrome", "MONDO:0005520": "rickets (disease)", "MONDO:0004373": "adult papillary meningioma", "MONDO:0005113": "bacterial infectious disease", "MONDO:0003220": "gallbladder carcinoma", "MONDO:0024331": "colorectal carcinoma", "MONDO:0021178": "injury", "MONDO:0006690": "carotid artery thrombosis", "MONDO:0042908": "Schaap-Taylor-Baraitser syndrome", "MONDO:0000629": "cardiovascular organ benign neoplasm", "MONDO:0004765": "intrinsic asthma", "MONDO:0005462": "primitive neuroectodermal tumor", "MONDO:0000378": "malignant Sertoli cell tumor", "MONDO:0002099": "Histoplasma capsulatum infectious disease", "MONDO:0001999": "primary pulmonary hypertension", "MONDO:0008942": "CPD2", "MONDO:0025457": "pulmonary adenomatosis, ovine", "MONDO:0002705": "breast mucinous cystadenocarcinoma", "MONDO:0003675": "posterolateral myocardial infarction", "MONDO:0022067": "Cantu sanchez-corona fragoso syndrome", "MONDO:0003128": "classic pulmonary blastoma", "MONDO:0004086": "ciliary body epithelioid cell melanoma", "MONDO:0042497": "mycotoxicosis", "MONDO:0005673": "blind loop syndrome", "MONDO:0004599": "barbiturate abuse", "MONDO:0004483": "thyroid gland oncocytic adenoma", "MONDO:0003930": "non-invasive bladder urothelial carcinoma", "MONDO:0005901": "pasteurellosis", "MONDO:0004164": "lymphoepithelioma-like acinar prostate adenocarcinoma", "MONDO:0024245": "ductal eccrine adenocarcinoma", "MONDO:0005009": "congestive heart failure", "MONDO:0001725": "balanitis xerotica obliterans", "MONDO:0042961": "sacral hemangiomas multiple congenital abnormalities", "MONDO:0006946": "renal osteodystrophy", "MONDO:0022464": "anophthalmia microcephaly hypogonadism", "MONDO:0037847": "vertebral joint disease", "MONDO:0022787": "cleft palate heart disease polydactyly absent tibia", "MONDO:0005954": "screw worm infectious disease", "MONDO:0004519": "synovial angioma", "MONDO:0044988": "hip region disease", "MONDO:0003041": "pediatric mesenchymal chondrosarcoma", "MONDO:0001127": "tibialis tendinitis", "MONDO:0021494": "benign neoplasm of parotid gland", "MONDO:0001317": "phlyctenulosis", "MONDO:0006459": "thymoma type B1", "MONDO:0006961": "scrapie", "MONDO:0006348": "pancreatic small cell neuroendocrine carcinoma", "MONDO:0003896": "breast capillary hemangioma", "MONDO:0000715": "lymph node adenoid cystic carcinoma", "MONDO:0002848": "skeletal muscle neoplasm", "MONDO:0044782": "esophageal ulcer", "MONDO:0020652": "immature teratoma of vulva", "MONDO:0003640": "verruciform xanthoma of skin", "MONDO:0002943": "external ear basal cell carcinoma", "MONDO:0002727": "olfactory nerve disease", "MONDO:0021451": "benign neoplasm of brain", "MONDO:0003051": "non specific chronic endometritis", "MONDO:0000798": "mollusc allergy", "MONDO:0005179": "ovarian adenoma benign", "MONDO:0006924": "Bartonellaceae infectious disease", "MONDO:0023369": "disease of facial skeleton", "MONDO:0025425": "hepatitis, infectious canine", "MONDO:0009730": "nephrosialidosis", "MONDO:0020306": "absent tibia-polydactyly syndrome", "MONDO:0006187": "duodenal villous adenoma", "MONDO:0022824": "congenital craniosynostosis maternal hyperthyroiditis", "MONDO:0008112": "Goldenhar syndrome", "MONDO:0005087": "respiratory system disease", "MONDO:0044794": "benign melanocytic skin nevus", "MONDO:0003944": "endobronchial leiomyoma", "MONDO:0004308": "meningeal sarcoma", "MONDO:0000310": "Alkhurma hemorrhagic fever", "MONDO:0022070": "Cantu sanchez-corona hernandez syndrome", "MONDO:0000227": "African tick-bite fever", "MONDO:0001398": "ureter benign neoplasm", "MONDO:0024410": "infection caused by Bifidobacterium", "MONDO:0006998": "tonsil cancer", "MONDO:0001377": "vitreous syneresis", "MONDO:0002948": "skin fibroepithelial basal cell carcinoma", "MONDO:0002708": "retinitis", "MONDO:0022673": "autosomal dominant non-nuclear cataract", "MONDO:0000516": "phalanx chondroma", "MONDO:0004788": "cervix squamous papilloma", "MONDO:0004251": "small intestine neoplasm", "MONDO:0005439": "familial hypercholesterolemia", "MONDO:0007238": "amastia", "MONDO:0043885": "eye infectious disease", "MONDO:0020974": "laryngeal granuloma", "MONDO:0004394": "maxillary sinus squamous cell carcinoma", "MONDO:0003872": "ovarian papillary cystadenoma", "MONDO:0015470": "familial isolated dilated cardiomyopathy", "MONDO:0004759": "bestiality", "MONDO:0001818": "facial neuralgia", "MONDO:0006831": "leukostasis", "MONDO:0021529": "benign neoplasm of chest wall", "MONDO:0004214": "ovarian endometrioid cystadenofibroma", "MONDO:0100019": "ECHS1-related paroxysmal dyskinesia", "MONDO:0000794": "beta-lactam allergy", "MONDO:0021091": "papillary cystadenoma", "MONDO:0003694": "ovarian clear cell cystadenofibroma", "MONDO:0043125": "mcpherson robertson cammarano syndrome", "MONDO:0004280": "asymmetric motor neuropathy", "MONDO:0056817": "rectal adenosquamous carcinoma", "MONDO:0021194": "disease by subcellular system affected", "MONDO:0021378": "neoplasm of endocardium", "MONDO:0002903": "articulation disorder", "MONDO:0002129": "bone cancer", "MONDO:0007028": "rotator cuff syndrome", "MONDO:0022761": "chromosome 3 duplication syndrome", "MONDO:0005044": "hypertensive disorder", "MONDO:0044211": "idiopathic urticaria", "MONDO:0002901": "blood group incompatibility", "MONDO:0019566": "Klippel-Trenaunay syndrome", "MONDO:0005791": "herpangina", "MONDO:0005102": "undifferentiated (embryonal) sarcoma", "MONDO:0003912": "malignant ciliary body melanoma", "MONDO:0006176": "cribriform carcinoma", "MONDO:0003211": "nasal cavity adenocarcinoma", "MONDO:0002717": "spinal cord intramedullary teratoma", "MONDO:0001752": "alveolar periostitis", "MONDO:0000514": "bone squamous cell carcinoma", "MONDO:0044212": "chronic idiopathic urticaria", "MONDO:0001735": "paranasal sinus disease", "MONDO:0021398": "polyp of rectum", "MONDO:0043069": "zerres rietschel majewski syndrome", "MONDO:0006067": "acinar prostate mucinous adenocarcinoma", "MONDO:0001223": "parathyroid gland disease", "MONDO:0005943": "Rhabditida infectious disease", "MONDO:0018351": "adenocarcinoma of penis", "MONDO:0004403": "childhood precursor T-lymphoblastic lymphoma/leukemia", "MONDO:0001135": "voyeurism", "MONDO:0003940": "Kummell disease", "MONDO:0017606": "facial nerve palsy due to herpes zoster infection", "MONDO:0004479": "malignant childhood germ cell neoplasm", "MONDO:0044751": "chronic diarrheal disease", "MONDO:0005689": "cannabis dependence", "MONDO:0005693": "cauda equina syndrome", "MONDO:0019776": "Juberg-Marsidi syndrome", "MONDO:0001154": "Siberian tick typhus", "MONDO:0004785": "blepharitis", "MONDO:0006520": "Achenbach syndrome", "MONDO:0024652": "embryonic cyst of fallopian tube", "MONDO:0020696": "vitamin B12 deficiency", "MONDO:0004355": "childhood leukemia", "MONDO:0001033": "mycotic corneal ulcer", "MONDO:0021485": "benign neoplasm of iris", "MONDO:0020575": "polymorphic ventricular tachycardia", "MONDO:0021440": "benign neoplasm of skin", "MONDO:0001390": "transient refractive change", "MONDO:0004625": "phlebitis", "MONDO:0023868": "melanoma associated retinopathy", "MONDO:0001376": "urinary bladder anterior wall cancer", "MONDO:0002535": "verrucous papilloma", "MONDO:0005413": "cystic fibrosis associated meconium ileum", "MONDO:0004189": "esophageal tuberculosis", "MONDO:0016148": "qualitative or quantitative defects of collagen 6", "MONDO:0004283": "vulvar clear cell hidradenocarcinoma", "MONDO:0002241": "factor XIII deficiency", "MONDO:0022481": "APO A-i deficiency", "MONDO:0001355": "ocular siderosis", "MONDO:0004936": "uterine inversion", "MONDO:0004661": "trachea carcinoma in situ", "MONDO:0006560": "hypohidrosis", "MONDO:0001375": "bladder trigone cancer", "MONDO:0021726": "abdominal cystic lymphangioma", "MONDO:0009278": "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency", "MONDO:0045023": "acquired adrenogenital syndrome", "MONDO:0001468": "synovial plica syndrome", "MONDO:0024363": "rapid eye movement sleep disorder", "MONDO:0018859": "Leigh disease", "MONDO:0025139": "white muscle disease", "MONDO:0005723": "Cryptococcal meningitis", "MONDO:0004619": "measles", "MONDO:0001480": "malignant tumor of undescended testis", "MONDO:0024973": "pneumonia, atypical interstitial, of cattle", "MONDO:0004566": "postgastrectomy syndrome", "MONDO:0003805": "malignant pericardial mesothelioma", "MONDO:0000922": "pelvic inflammatory disease", "MONDO:0022634": "camptodactyly vertebral fusion", "MONDO:0002181": "exostosis", "MONDO:0002961": "large cell acanthoma", "MONDO:0001336": "familial hyperlipidemia", "MONDO:0001944": "mixed malaria", "MONDO:0014129": "autosomal recessive limb-girdle muscular dystrophy type 2R", "MONDO:0006321": "non-functioning adrenal cortex adenoma", "MONDO:0001776": "prostate calculus", "MONDO:0002831": "non-keratinizing sinonasal squamous cell carcinoma", "MONDO:0003387": "urethra clear cell adenocarcinoma", "MONDO:0006189": "eccrine porocarcinoma", "MONDO:0002121": "mononeuritis simplex", "MONDO:0004107": "splenic manifestation of leukemia", "MONDO:0003660": "adult lymphoma", "MONDO:0021238": "cornea neoplasm", "MONDO:0002287": "glandular cystitis", "MONDO:0040923": "late latent syphilis", "MONDO:0003366": "hydrarthrosis", "MONDO:0002134": "physiological sexual disorder", "MONDO:0001057": "malignant gastric granular cell tumor", "MONDO:0005593": "chronic periodontitis", "MONDO:0025095": "malaria, avian", "MONDO:0043510": "brain injury", "MONDO:0006969": "sialadenitis", "MONDO:0022907": "cutaneous sclerosis", "MONDO:0024290": "enuresis", "MONDO:0001951": "Norwegian scabies", "MONDO:0005015": "diabetes mellitus (disease)", "MONDO:0001843": "uterus interstitial leiomyoma", "MONDO:0043243": "leukoplakia", "MONDO:0022666": "cassavism", "MONDO:0001083": "Fanconi syndrome", "MONDO:0019341": "tuberous sclerosis complex", "MONDO:0010059": "spinal muscular atrophy, type I, with congenital bone fractures", "MONDO:0006052": "pulmonary tuberculosis", "MONDO:0043087": "thickened earlobes with conductive deafness from incus-stapes abnormalities", "MONDO:0000665": "apraxia", "MONDO:0004385": "adult xanthogranuloma", "MONDO:0003689": "familial hemolytic anemia", "MONDO:0001169": "spastic monoplegia", "MONDO:0003984": "internal auditory canal lipoma", "MONDO:0000849": "fibrogenesis imperfecta ossium", "MONDO:0001269": "scleral disease", "MONDO:0003112": "malignant gastric germ cell tumor", "MONDO:0005492": "urticaria (disease)", "MONDO:0000421": "inborn serine deficiency", "MONDO:0005565": "blastoma", "MONDO:0022916": "cystic hygroma lethal cleft palate", "MONDO:0003296": "cellular leiomyoma", "MONDO:0007004": "type III hypersensitivity disease", "MONDO:0004411": "duodenal gastrin-producing neuroendocrine tumor", "MONDO:0044335": "benign soft tissue neoplasm", "MONDO:0021979": "Basaran Yilmaz syndrome", "MONDO:0002490": "breast sarcoma", "MONDO:0024320": "inner ear neoplasm", "MONDO:0003300": "appendix leiomyoma", "MONDO:0004274": "mixed epithelial/mesenchymal metaplastic breast carcinoma", "MONDO:0002265": "stereotypic movement disorder", "MONDO:0001560": "hypertrophic pyloric stenosis", "MONDO:0006164": "colorectal sessile serrated adenoma/polyp", "MONDO:0042964": "Machado-Joseph disease type 4", "MONDO:0001930": "acute cholangitis", "MONDO:0019774": "Holmes-Gang syndrome", "MONDO:0004223": "polyp of middle ear", "MONDO:0006504": "acquired metabolic disease", "MONDO:0020706": "Heberden's node", "MONDO:0005878": "ocular onchocerciasis", "MONDO:0005200": "viral dilated cardiomyopathy", "MONDO:0020690": "adult glioblastoma", "MONDO:0004430": "penis mixed squamous cell carcinoma", "MONDO:0002071": "supratentorial cancer", "MONDO:0006547": "exanthem (disease)", "MONDO:0000893": "mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma", "MONDO:0003891": "bladder signet ring cell adenocarcinoma", "MONDO:0005833": "lymphatic system disease", "MONDO:0003352": "colon sarcoma", "MONDO:0003922": "ovarian clear cell malignant adenofibroma", "MONDO:0005302": "attention deficit hyperactivity disorder", "MONDO:0041093": "central retinal vein occlusion with macular edema", "MONDO:0024300": "hypophosphatemic rickets", "MONDO:0018750": "class I glucose-6-phosphate dehydrogenase deficiency", "MONDO:0000236": "oropharyngeal anthrax", "MONDO:0043174": "pfeiffer tietze welte syndrome", "MONDO:0004732": "kidney carcinoma in situ", "MONDO:0019778": "Smith-Fineman-Myers syndrome", "MONDO:0001392": "monocular exotropia", "MONDO:0003139": "mesangial proliferative glomerulonephritis", "MONDO:0022098": "catamenial pneumothorax", "MONDO:0005873": "neuroaspergillosis", "MONDO:0006513": "estrogen-receptor negative breast cancer", "MONDO:0021279": "mucoepidermoid carcinoma of submandibular gland", "MONDO:0004833": "plantar fasciitis", "MONDO:0005747": "enterovirus infectious disease", "MONDO:0100033": "metabolic epilepsy", "MONDO:0006530": "cholesteatoma (disease)", "MONDO:0003059": "bile duct cancer", "MONDO:0007889": "lentigines", "MONDO:0006411": "sinonasal undifferentiated carcinoma", "MONDO:0004946": "hypoglycemia", "MONDO:0006979": "steatitis", "MONDO:0003470": "cellular ependymoma", "MONDO:0024303": "external hirudiniasis", "MONDO:0000747": "umbilical hernia", "MONDO:0005059": "leukemia (disease)", "MONDO:0003918": "angiomatous meningioma", "MONDO:0001670": "tooth resorption", "MONDO:0100054": "idiopathic anaphylaxis", "MONDO:0006717": "cutaneous fibrous histiocytoma", "MONDO:0002407": "capillary hemangioma", "MONDO:0000782": "Indian plum allergy", "MONDO:0002919": "posterior cranial fossa meningioma", "MONDO:0021927": "arthrogryposis epileptic seizures migrational brain disorder", "MONDO:0004898": "total circumpapillary dystrophy of choroid", "MONDO:0044875": "coronary microvascular disease", "MONDO:0001034": "marginal corneal ulcer", "MONDO:0006287": "malignancy in giant cell tumor of bone", "MONDO:0000520": "parietal lobe ependymal tumor", "MONDO:0021489": "benign neoplasm of sweat gland", "MONDO:0037792": "carbohydrate metabolism disease", "MONDO:0023642": "Weber syndrome", "MONDO:0005900": "parotitis", "MONDO:0006735": "duodenogastric reflux", "MONDO:0001058": "gastric fundus cancer", "MONDO:0006648": "anterior compartment syndrome", "MONDO:0043731": "lytic metastatic bone lesion", "MONDO:0004356": "childhood multilocular cystic kidney neoplasm", "MONDO:0001065": "supine hypotensive syndrome", "MONDO:0005186": "cocaine dependence", "MONDO:0004674": "chorioretinitis (disease)", "MONDO:0003091": "cutaneous mucoepidermoid carcinoma", "MONDO:0000111": "camptodactyly syndrome, Guadalajara", "MONDO:0006744": "endolymphatic hydrops", "MONDO:0002724": "mast cell neoplasm", "MONDO:0001452": "pseudoretinitis pigmentosa", "MONDO:0002025": "psychiatric disorder", "MONDO:0001090": "acute anterolateral myocardial infarction", "MONDO:0002371": "breast pericanalicular fibroadenoma", "MONDO:0006696": "cervix erosion", "MONDO:0022946": "deafness progressive cataract autosomal dominant", "MONDO:0003820": "mature ovarian teratoma", "MONDO:0020605": "X-linked recessive disease", "MONDO:0000626": "vestibular gland benign neoplasm", "MONDO:0001265": "schizophreniform disorder", "MONDO:0000918": "endometritis", "MONDO:0006270": "lobular breast carcinoma in situ", "MONDO:0003425": "ophthalmoplegia", "MONDO:0022103": "chronic prostatitis", "MONDO:0020644": "lung non-Hodgkin lymphoma", "MONDO:0001983": "peripheral degeneration of cornea", "MONDO:0001149": "microcephaly (disease)", "MONDO:0001740": "cornea squamous cell carcinoma", "MONDO:0000975": "lipoma of spermatic cord", "MONDO:0000430": "mature T-cell and NK-cell non-Hodgkin lymphoma", "MONDO:0002559": "plexiform schwannoma", "MONDO:0005950": "Salmonella gastroenteritis", "MONDO:0000983": "exhibitionism", "MONDO:0001326": "dental pulp necrosis", "MONDO:0024969": "parasitic disease, non-human animal", "MONDO:0021503": "benign neoplasm of gallbladder", "MONDO:0021179": "proteostasis deficiencies", "MONDO:0015917": "malignant glioma", "MONDO:0003584": "visual cortex disease", "MONDO:0000615": "progesterone-receptor positive breast cancer", "MONDO:0004124": "prostate stromal sarcoma", "MONDO:0001321": "scleral staphyloma (disease)", "MONDO:0001964": "chronic tubotympanic suppurative otitis media", "MONDO:0006729": "discrete subaortic stenosis", "MONDO:0002383": "Pacinian tumor", "MONDO:0004795": "otitis externa", "MONDO:0004848": "ulcerative stomatitis", "MONDO:0005314": "relapsing-remitting multiple sclerosis", "MONDO:0003978": "colon small cell neuroendocrine carcinoma", "MONDO:0022007": "water intoxication", "MONDO:0005799": "hookworm infectious disease", "MONDO:0007018": "vulvitis", "MONDO:0006607": "sebaceous gland disease", "MONDO:0000282": "Whitewater Arroyo hemorrhagic fever", "MONDO:0004760": "urethral false passage", "MONDO:0022468": "antigen-peptide-transporter 2 deficiency", "MONDO:0002599": "teratocarcinoma", "MONDO:0013524": "bleeding diathesis due to thromboxane synthesis deficiency", "MONDO:0000253": "piedra", "MONDO:0044070": "candidemia", "MONDO:0006574": "lipomatosis", "MONDO:0021386": "neoplasm of mediastinum", "MONDO:0001507": "viral labyrinthitis", "MONDO:0003256": "neurohypophysis granular cell tumor", "MONDO:0005948": "Ritter disease", "MONDO:0005917": "placenta disease", "MONDO:0006668": "bacterial conjunctivitis", "MONDO:0000607": "primary cutaneous T-cell non-Hodgkin lymphoma", "MONDO:0021463": "benign neoplasm of parathyroid gland", "MONDO:0021177": "autoimmune hepatitis type 3", "MONDO:0004082": "childhood immature teratoma of ovary", "MONDO:0021294": "carcinoma in situ of gastric cardia", "MONDO:0041448": "metastasis from malignant tumor of colon", "MONDO:0004145": "meningothelial meningioma", "MONDO:0001073": "idiopathic progressive polyneuropathy", "MONDO:0004469": "pseudovascular skin squamous cell carcinoma", "MONDO:0021066": "urinary system neoplasm", "MONDO:0004628": "gastroduodenitis", "MONDO:0004016": "pineal region mature teratoma", "MONDO:0003893": "rete testis adenoma", "MONDO:0002669": "ampullary signet ring cell adenocarcinoma", "MONDO:0023255": "glossopalatine ankylosis micrognathia ear anomalies", "MONDO:0100071": "cardiocutaneous syndrome", "MONDO:0004864": "acute allergic mucoid otitis media", "MONDO:0002716": "childhood spinal cord tumor", "MONDO:0005503": "developmental disorder of mental health", "MONDO:0003946": "vaginal villous adenoma", "MONDO:0021540": "hamartoma of lung", "MONDO:0004000": "childhood pilocytic astrocytoma", "MONDO:0003442": "bladder papillary urothelial neoplasm", "MONDO:0005552": "ocular vascular disease", "MONDO:0006571": "lichen nitidus", "MONDO:0004509": "intrahepatic biliary papillomatosis", "MONDO:0006025": "autosomal recessive disease", "MONDO:0020581": "benign PEComa", "MONDO:0001678": "intestinal tuberculosis", "MONDO:0002809": "pancreatic cystadenoma", "MONDO:0006509": "papillary carcinoma", "MONDO:0003967": "synchronous multifocal osteogenic sarcoma", "MONDO:0040698": "subacute bursitis", "MONDO:0004423": "central nervous system extraskeletal osteosarcoma", "MONDO:0013270": "Rett syndrome, congenital variant", "MONDO:0005538": "proctitis", "MONDO:0006858": "mouth disease", "MONDO:0003513": "gastric teratoma", "MONDO:0002212": "pneumonic tularemia", "MONDO:0001686": "anatomical narrow angle borderline glaucoma", "MONDO:0002997": "anterior cranial fossa meningioma", "MONDO:0005767": "gas gangrene", "MONDO:0022768": "chronic polyradiculoneuritis", "MONDO:0000343": "Barmah forest virus disease", "MONDO:0006192": "endometrial endometrioid adenocarcinoma", "MONDO:0006632": "osteoarthritis, hand", "MONDO:0042458": "Trichinella spiralis infectious disease", "MONDO:0007815": "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist", "MONDO:0021457": "benign neoplasm of pleura", "MONDO:0009997": "Roberts syndrome", "MONDO:0003107": "infratentorial cancer", "MONDO:0006168": "common hematopoietic neoplasm", "MONDO:0005567": "substance withdrawal syndrome", "MONDO:0005489": "dyslexia (disease)", "MONDO:0006928": "proliferative vitreoretinopathy", "MONDO:0000261": "adenoiditis", "MONDO:0021385": "extrahepatic bile duct neoplasm", "MONDO:0007014": "vibrio infectious disease", "MONDO:0025370": "urogenital neoplasm", "MONDO:0045063": "major salivary gland adenoid cystic carcinoma", "MONDO:0006207": "fallopian tube carcinosarcoma", "MONDO:0003622": "pancreatic vasoactive intestinal peptide producing tumor", "MONDO:0002577": "extrahepatic bile duct rhabdomyosarcoma", "MONDO:0019478": "adult nodular lymphocyte predominant Hodgkin lymphoma", "MONDO:0004421": "sclerosing breast papilloma", "MONDO:0004944": "neurosyphilis", "MONDO:0004901": "lingual-facial-buccal dyskinesia", "MONDO:0006863": "myxosarcoma", "MONDO:0021446": "benign neoplasm of epiglottis", "MONDO:0042485": "infective arthritis", "MONDO:0024350": "pityriasis steatoides", "MONDO:0005319": "humerus fracture", "MONDO:0006108": "bile duct adenoma", "MONDO:0006658": "arteriolosclerosis", "MONDO:0021856": "Alsing syndrome", "MONDO:0006777": "hairy tongue", "MONDO:0020576": "cutaneous vasculitis", "MONDO:0003959": "breast large cell neuroendocrine carcinoma", "MONDO:0024354": "cytomegalovirus pneumonia", "MONDO:0005960": "silicosis", "MONDO:0001655": "dissociated nystagmus", "MONDO:0002090": "eccrine sweat gland neoplasm", "MONDO:0005597": "cystic renal cell carcinoma", "MONDO:0006340": "ovarian serous adenofibroma", "MONDO:0006775": "haemophilus influenzae meningitis", "MONDO:0001218": "acute laryngopharyngitis", "MONDO:0002358": "laryngeal carcinoma", "MONDO:0001054": "double pterygium", "MONDO:0020366": "congenital glaucoma", "MONDO:0005713": "congenital rubella", "MONDO:0005402": "lymphoid leukemia (disease)", "MONDO:0005952": "scarlet fever", "MONDO:0022972": "diabetic mastopathy", "MONDO:0022880": "corticobasal degeneration", "MONDO:0044937": "rectal carcinoma", "MONDO:0003742": "heart fibrosarcoma", "MONDO:0000251": "diarrheal disease secondary to altered bowel motility", "MONDO:0000647": "benign vaginal neoplasm", "MONDO:0006152": "colon inflammatory polyp", "MONDO:0044652": "optic atrophy-peripheral neuropathy-developmental delay syndrome", "MONDO:0021016": "channelopathy", "MONDO:0004193": "pediatric ovarian dysgerminoma", "MONDO:0005581": "AVL induced bursal lymphoma", "MONDO:0006003": "uterine corpus cancer", "MONDO:0001692": "pedophilia", "MONDO:0044339": "lumbar disc degenerative disorder", "MONDO:0003427": "bronchus adenoma", "MONDO:0002053": "obsolete hypoglycemic coma", "MONDO:0003445": "extrahepatic bile duct adenoma", "MONDO:0004435": "liver fibrosarcoma", "MONDO:0002861": "testis sarcoma", "MONDO:0006082": "anal squamous cell carcinoma", "MONDO:0002434": "oculomotor nerve cancer", "MONDO:0022349": "congenital absence of septum pellucidum", "MONDO:0001524": "globe disease", "MONDO:0004770": "exophthalmos (disease)", "MONDO:0001424": "sarcoid meningitis", "MONDO:0001199": "dislocation of ear ossicle", "MONDO:0008042": "myoclonus and ataxia", "MONDO:0021237": "adrenal medulla neoplasm", "MONDO:0006904": "phimosis", "MONDO:0037739": "benign neoplasm of cauda equina", "MONDO:0004144": "fibrous meningioma", "MONDO:0005282": "cutaneous lupus erythematosus", "MONDO:0003134": "proliferative glomerulonephritis", "MONDO:0006862": "myofascial pain syndrome", "MONDO:0006283": "lymphoepithelioma-like lung carcinoma", "MONDO:0004775": "lens-induced iridocyclitis", "MONDO:0021130": "disorder of sphingolipid biosynthesis", "MONDO:0000502": "villous adenoma", "MONDO:0022891": "craniosynostosis Maroteaux Fonfria type", "MONDO:0021157": "gonococcal cervicitis", "MONDO:0004884": "eye degenerative disease", "MONDO:0003206": "acquired hemangioma", "MONDO:0006085": "angiolipoma", "MONDO:0006950": "retinal vasculitis", "MONDO:0002047": "pulmonary systemic sclerosis", "MONDO:0002957": "sarcomatoid basal cell carcinoma", "MONDO:0020579": "mucositis", "MONDO:0002038": "head and neck carcinoma", "MONDO:0000181": "microcephaly and chorioretinopathy", "MONDO:0021530": "benign neoplasm of subglottis", "MONDO:0006882": "orchitis (disease)", "MONDO:0001092": "colon leiomyoma", "MONDO:0000304": "penicilliosis", "MONDO:0021073": "paraneoplastic syndrome", "MONDO:0001443": "tympanosclerosis", "MONDO:0004094": "multiple skull base meningioma", "MONDO:0004774": "gonococcal iridocyclitis", "MONDO:0009307": "granulomatous disease with defect in neutrophil chemotaxis", "MONDO:0001828": "acquired color blindness", "MONDO:0023101": "facio digito genital syndrome recessive form", "MONDO:0005067": "monophasic synovial sarcoma", "MONDO:0100016": "early-onset generalized dystonia", "MONDO:0025028": "vesicular stomatitis", "MONDO:0001781": "uterine corpus adenomatoid tumor", "MONDO:0005049": "intracranial hemorrhage", "MONDO:0002553": "cerebellopontine angle tumor", "MONDO:0021629": "uterine ligament neoplasm", "MONDO:0002171": "giant cell tumor", "MONDO:0021532": "fibroma of prostate", "MONDO:0004838": "orthostatic proteinuria", "MONDO:0005406": "gestational diabetes", "MONDO:0060781": "Preeyasombat-Varavithya syndrome", "MONDO:0021969": "Banti syndrome", "MONDO:0002168": "rectum sarcoma", "MONDO:0000778": "fruit allergy", "MONDO:0040676": "great vessel cancer", "MONDO:0006382": "poorly differentiated thyroid gland carcinoma", "MONDO:0005112": "malignant pleural mesothelioma", "MONDO:0002614": "bone inflammation disease", "MONDO:0021196": "disease by molecular activity disrupted", "MONDO:0001820": "focal labyrinthitis", "MONDO:0000410": "funisitis", "MONDO:0001177": "anorectal stricture", "MONDO:0001186": "depersonalization disorder", "MONDO:0001554": "phacogenic glaucoma", "MONDO:0003957": "adult pineoblastoma", "MONDO:0022968": "dextrocardia with situs inversus", "MONDO:0006313": "nabothian cyst", "MONDO:0001630": "branch retinal artery occlusion", "MONDO:0003813": "ovarian papillary tumor", "MONDO:0008646": "long QT syndrome 1", "MONDO:0001417": "tracheal lymphoma", "MONDO:0021291": "carcinoma in situ of fundus of stomach", "MONDO:0005887": "oral tuberculosis", "MONDO:0001393": "peripheral focal chorioretinitis", "MONDO:0002695": "sagittal sinus thrombosis", "MONDO:0000904": "complex cortical dysplasia with other brain malformations", "MONDO:0005190": "macroglobulinemia", "MONDO:0004451": "sarcomatous intrahepatic cholangiocarcinoma", "MONDO:0001447": "detrusor sphincter dyssynergia (disease)", "MONDO:0003804": "blood protein disease", "MONDO:0044203": "foveal hypoplasia", "MONDO:0005074": "papillary cystadenocarcinoma", "MONDO:0002988": "cervix melanoma", "MONDO:0000603": "autoimmune disease of cardiovascular system", "MONDO:0003490": "ampulla of vater squamous cell carcinoma", "MONDO:0024715": "benign synovial neoplasm", "MONDO:0005652": "Arterivirus infectious disease", "MONDO:0005936": "recurrent pneumonia (disease)", "MONDO:0003947": "hyper-IgM syndrome", "MONDO:0002701": "ovarian mucinous cystadenocarcinoma", "MONDO:0004845": "aphthous stomatitis", "MONDO:0021061": "neurofibromatosis", "MONDO:0043839": "ulcer disease", "MONDO:0006403": "salivary gland carcinoma ex pleomorphic adenoma", "MONDO:0022805": "colonic malakoplakia", "MONDO:0000554": "endocervical adenocarcinoma", "MONDO:0024263": "neonatal aspiration syndrome", "MONDO:0037858": "inherited fatty acid metabolism disorder", "MONDO:0009989": "enhanced S-cone syndrome", "MONDO:0024344": "pityriasis folliculorum", "MONDO:0100021": "photosensitive occipital lobe epilepsy", "MONDO:0006251": "inclusion body fibromatosis (disease)", "MONDO:0014761": "hereditary pediatric BehC'et-like disease", "MONDO:0001350": "parametrium malignant neoplasm", "MONDO:0005583": "non-human animal disease", "MONDO:0009410": "Addison disease", "MONDO:0022866": "corneal dystrophy pigmentary anomaly malabsorption", "MONDO:0005831": "lymph node tuberculosis", "MONDO:0004600": "monocytic leukemia", "MONDO:0037105": "lung germ cell tumor", "MONDO:0002373": "benign mesothelioma", "MONDO:0002914": "childhood brain stem neoplasm", "MONDO:0005125": "borderline leprosy", "MONDO:0002956": "skin cystic basal cell carcinoma", "MONDO:0003104": "epicardium cancer", "MONDO:0004816": "refractory plasma cell neoplasm", "MONDO:0001841": "uterine corpus epithelioid leiomyoma", "MONDO:0006298": "mediastinal malignant germ cell tumor", "MONDO:0021462": "benign neoplasm of rectum", "MONDO:0004190": "nephrogenic adenoma of urinary bladder", "MONDO:0000933": "subglottis neoplasm", "MONDO:0000620": "breast benign neoplasm", "MONDO:0023609": "le Marec-Bracq-Picaud syndrome", "MONDO:0005638": "agnosia", "MONDO:0000259": "asymptomatic dengue", "MONDO:0001975": "cavernous hemangioma of orbit", "MONDO:0001671": "mucocele of appendix", "MONDO:0020670": "antithrombin deficiency type 2", "MONDO:0021465": "benign neoplasm of appendix", "MONDO:0004076": "tendon sheath lipoma", "MONDO:0003045": "anal gland neoplasm", "MONDO:0006917": "posterior cerebral artery infarction", "MONDO:0016916": "partial deletion of the long arm of chromosome 18", "MONDO:0002295": "skin glomus tumor", "MONDO:0003679": "anteroseptal myocardial infarction", "MONDO:0006836": "Listeria meningitis", "MONDO:0000774": "autoimmune neuropathy", "MONDO:0025086": "hip dysplasia, canine", "MONDO:0004986": "urinary bladder carcinoma", "MONDO:0021418": "polyp of ethmoidal sinus", "MONDO:0002688": "duodenal obstruction", "MONDO:0000402": "small cell carcinoma", "MONDO:0003292": "anus leiomyoma", "MONDO:0005830": "lumpy skin disease", "MONDO:0021010": "skin lymphangiosarcoma", "MONDO:0022609": "bronchial adenomas/carcinoids childhood", "MONDO:0021343": "carcinoma of floor of mouth", "MONDO:0004508": "periapical periodontitis", "MONDO:0021677": "post-infectious neuralgia", "MONDO:0009510": "Laron syndrome with immunodeficiency", "MONDO:0002327": "intracranial cavernous angioma", "MONDO:0044784": "myxoma", "MONDO:0003530": "aggressive digital papillary adenocarcinoma", "MONDO:0001212": "non-suppurative otitis media", "MONDO:0003790": "prostatic urethra urothelial carcinoma", "MONDO:0001164": "antisocial personality disorder", "MONDO:0011293": "Homocysteinemia", "MONDO:0021189": "intestinal motility disease", "MONDO:0043303": "hyperacusis", "MONDO:0004525": "scabies", "MONDO:0004290": "subglottis verrucous carcinoma", "MONDO:0003691": "childhood malignant mesenchymoma", "MONDO:0021759": "acquired fructose intolerance", "MONDO:0003681": "myxoid chondrosarcoma", "MONDO:0022745": "mixed dust pneumoconiosis", "MONDO:0006515": "acute pancreatitis", "MONDO:0000167": "Huntington disease and related disorders", "MONDO:0005142": "Pseudomonas aeruginosa CF5 infection", "MONDO:0001542": "common peroneal nerve lesion", "MONDO:0044913": "metastatic malignant neoplasm in the eye", "MONDO:0003644": "cavernous hemangioma of colon", "MONDO:0003284": "mediastinum leiomyoma", "MONDO:0020329": "classic Hodgkin lymphoma, lymphocyte-rich type", "MONDO:0005114": "pneumococcal infection", "MONDO:0004413": "cervical non-keratinizing squamous cell carcinoma", "MONDO:0020980": "hair nevus", "MONDO:0002930": "kidney sarcoma", "MONDO:0021523": "benign neoplasm of pharynx", "MONDO:0006377": "pleural biphasic mesothelioma", "MONDO:0006774": "habitual spontaneous abortion", "MONDO:0005808": "inclusion conjunctivitis", "MONDO:0004325": "testicular thecoma", "MONDO:0041751": "multibacillary leprosy", "MONDO:0001263": "histoplasmosis retinitis", "MONDO:0000544": "mucosal melanoma", "MONDO:0022573": "biliary atresia intrahepatic non syndromic form", "MONDO:0012647": "generalized epilepsy with febrile seizures plus, type 3", "MONDO:0007005": "ulcerative proctosigmoiditis", "MONDO:0002323": "cherry hemangioma", "MONDO:0021516": "benign neoplasm of glottis", "MONDO:0000320": "glandular tularemia", "MONDO:0005364": "Graves disease", "MONDO:0002625": "Ewing sarcoma of bone", "MONDO:0006605": "scalp dermatosis", "MONDO:0000263": "laryngotracheitis", "MONDO:0006892": "partial sensory epilepsy", "MONDO:0006507": "hereditary hemochromatosis", "MONDO:0043079": "acute articular rheumatism", "MONDO:0023155": "fibula aplasia complex brachydactyly", "MONDO:0001617": "transient global amnesia (disease)", "MONDO:0006634": "pituitary gland acidophil adenoma", "MONDO:0043133": "microcephaly micropenis convulsions", "MONDO:0000663": "anosognosia", "MONDO:0022993": "dipsogenic diabetes insipidus", "MONDO:0000950": "asthenopia", "MONDO:0003726": "apocrine adenosis of breast", "MONDO:0002556": "microcystic/reticular schwannoma", "MONDO:0024664": "hypertension, pregnancy-induced", "MONDO:0007926": "Waldenstrom macroglobulinemia", "MONDO:0006601": "pityriasis rosea", "MONDO:0005856": "Mononegavirales infectious disease", "MONDO:0008277": "stomach polyp", "MONDO:0005910": "phagocyte bactericidal dysfunction", "MONDO:0002782": "cranial nerve palsy", "MONDO:0024283": "Demodex folliculitis", "MONDO:0001431": "toxic or nutritional optic neuropathy", "MONDO:0006760": "fetal erythroblastosis", "MONDO:0000956": "small intestine cancer", "MONDO:0004344": "childhood malignant hemangiopericytoma", "MONDO:0005857": "morbillivirus infectious disease", "MONDO:0013676": "hypermethioninemia due to adenosine kinase deficiency", "MONDO:0045037": "hyalohyphomycosis", "MONDO:0044924": "acute myeloid leukemia with mutated CEBPA", "MONDO:0021389": "neoplasm of aortic body", "MONDO:0006912": "pneumatosis cystoides intestinalis", "MONDO:0025382": "sarcoma, avian", "MONDO:0006918": "posterior uveitis", "MONDO:0004039": "papillary extrahepatic bile duct adenocarcinoma", "MONDO:0007954": "May-Hegglin anomaly", "MONDO:0005316": "bacterial vaginosis", "MONDO:0005984": "tinea pedis", "MONDO:0003769": "herpetic gastritis", "MONDO:0000032": "febrile seizures, familial", "MONDO:0005845": "meningoencephalitis", "MONDO:0002738": "acute transudative otitis media", "MONDO:0002951": "skin adenoid basal cell carcinoma", "MONDO:0001275": "spinal meningioma", "MONDO:0004796": "infectious meningitis", "MONDO:0006598": "phototoxic dermatitis", "MONDO:0007007": "Ureaplasma urethritis", "MONDO:0005709": "common cold", "MONDO:0001625": "corpus luteum cyst", "MONDO:0005453": "congenital heart disease", "MONDO:0002325": "tooth erosion, non-bacterial", "MONDO:0003417": "internuclear ophthalmoplegia", "MONDO:0006409": "signet ring cell gastric adenocarcinoma", "MONDO:0041775": "intraoperative floppy iris syndrome", "MONDO:0043339": "lathyrism", "MONDO:0021299": "carcinoma in situ of extrahepatic bile duct", "MONDO:0000594": "pervasive developmental disorder", "MONDO:0004365": "necrotic uveal melanoma", "MONDO:0003935": "oncocytic breast carcinoma", "MONDO:0024379": "circadian rhythm sleep disorder, irregular sleep wake type", "MONDO:0024516": "familial acne inversa", "MONDO:0020577": "childhood gonadal germ cell tumor", "MONDO:0002182": "communication disorder", "MONDO:0023199": "frontonasal dysplasia phocomelic upper limbs", "MONDO:0005868": "myelophthisic anemia", "MONDO:0005493": "delayed encephalopathy after acute carbon monoxide poisoning", "MONDO:0006314": "nasal cavity polyp", "MONDO:0006972": "silo filler disease", "MONDO:0004699": "gastrointestinal lymphoma", "MONDO:0002511": "stenosis of lacrimal sac", "MONDO:0005549": "renal cell adenocarcinoma", "MONDO:0024479": "epithelial tumor of colon", "MONDO:0004511": "lower clivus meningioma", "MONDO:0021581": "connective tissue neoplasm", "MONDO:0023249": "polyarticular juvenile rheumatoid arthritis", "MONDO:0044351": "Schistosoma intercalatum infectious disease", "MONDO:0002613": "histrionic personality disorder (disease)", "MONDO:0001936": "brawny scleritis", "MONDO:0042604": "Sandhaus-Ben-Ami syndrome", "MONDO:0011728": "blepharospasm", "MONDO:0006203": "extrahepatic bile duct squamous cell carcinoma", "MONDO:0024654": "skull disorder", "MONDO:0024317": "chronic pain syndrome", "MONDO:0023415": "congenital candidiasis", "MONDO:0022140": "Charles bonnet syndrome", "MONDO:0002077": "low implantation of placenta", "MONDO:0006120": "C-cell hyperplasia", "MONDO:0001360": "blind hypotensive eye", "MONDO:0000628": "central nervous system organ benign neoplasm", "MONDO:0021994": "Berk-Tabatznik syndrome", "MONDO:0020657": "human papillomavirus-related squamous cell carcinoma", "MONDO:0044346": "echinococcus granulosus infectious disease", "MONDO:0023370": "neoplastic disease or syndrome", "MONDO:0041536": "Far-East scarlet-like fever", "MONDO:0007494": "episodic kinesigenic dyskinesia 1", "MONDO:0043836": "tuberculosis, spinal", "MONDO:0003658": "B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma", "MONDO:0006212": "flat urothelial hyperplasia", "MONDO:0005463": "aortic valve calcification (disease)", "MONDO:0004714": "atrophic muscular disease", "MONDO:0005535": "oral Crohn disease", "MONDO:0000993": "prostate squamous cell carcinoma", "MONDO:0042484": "disseminated sporotrichosis", "MONDO:0001116": "mesenteric lymphadenitis", "MONDO:0003316": "nonanaplastic kidney Wilms tumor", "MONDO:0022871": "corpus callosum agenesis of blepharophimosis robin type", "MONDO:0023541": "Kasznica-Carlson-Coppedge syndrome", "MONDO:0009799": "pachydermoperiostosis", "MONDO:0001652": "scrotum melanoma", "MONDO:0005255": "mild heart failure", "MONDO:0006889": "paraphimosis", "MONDO:0012070": "autosomal dominant Charcot-Marie-Tooth disease type 2G", "MONDO:0006416": "small intestinal Burkitt lymphoma", "MONDO:0016050": "thiamine-responsive encephalopathy", "MONDO:0006994": "tarsal tunnel syndrome", "MONDO:0001063": "cardia cancer", "MONDO:0001583": "diabetic polyneuropathy", "MONDO:0007903": "Li-Fraumeni syndrome 1", "MONDO:0024746": "immature teratoma", "MONDO:0044762": "diarrheal disease secondary to increased bowel motility", "MONDO:0004208": "superior vena cava leiomyosarcoma", "MONDO:0005812": "influenza", "MONDO:0022883": "craniofacial and skeletal defects", "MONDO:0001533": "pes anserinus tendinitis or bursitis", "MONDO:0006826": "kwashiorkor", "MONDO:0001631": "vertebral artery insufficiency", "MONDO:0005532": "Crohn's colitis", "MONDO:0006430": "splenic mantle cell lymphoma", "MONDO:0002139": "sigmoid disease", "MONDO:0022567": "bhaskar jagannathan syndrome", "MONDO:0023230": "Ghose-Sachdev-Kumar syndrome", "MONDO:0044970": "mitochondrial disease", "MONDO:0004881": "myositis fibrosa", "MONDO:0021642": "vulval varices", "MONDO:0004129": "cloacogenic carcinoma", "MONDO:0004903": "deep keratitis", "MONDO:0002093": "acanthoma (disease)", "MONDO:0004579": "retinoschisis", "MONDO:0100035": "structural epilepsy", "MONDO:0003710": "ovarian mixed germ cell neoplasm", "MONDO:0020312": "atypical chronic myeloid leukemia", "MONDO:0003223": "meninges hemangiopericytoma", "MONDO:0022612": "Brunsting-Perry syndrome", "MONDO:0011769": "familial aortic dissection", "MONDO:0006466": "thyroid gland spindle cell tumor with thymus-like differentiation", "MONDO:0056798": "disorder of appendix", "MONDO:0023221": "Gaucher ichthyosis restrictive dermopathy", "MONDO:0000373": "gall bladder carcinoma in situ", "MONDO:0000517": "brain stem medulloblastoma", "MONDO:0024381": "circadian rhythm sleep disorder, jet lag type", "MONDO:0004324": "testicular fibroma", "MONDO:0006945": "renal artery obstruction", "MONDO:0001544": "tibial nerve palsy", "MONDO:0022642": "childhood carcinoid tumor", "MONDO:0023483": "infectious myositis", "MONDO:0042452": "tertiary lesion of yaws", "MONDO:0004997": "chondroblastoma (disease)", "MONDO:0023023": "neonatal dacryocystitis", "MONDO:0003993": "childhood vagina botryoid rhabdomyosarcoma", "MONDO:0021355": "neoplasm of esophagus", "MONDO:0006397": "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions", "MONDO:0003473": "spinal cord ependymoma", "MONDO:0044979": "disease by cell type", "MONDO:0008412": "intestinal schistosomiasis", "MONDO:0042980": "Westphal disease", "MONDO:0003038": "dysgraphia (disease)", "MONDO:0005918": "placenta praevia", "MONDO:0042963": "wandering spleen", "MONDO:0000809": "purpura fulminans", "MONDO:0024171": "radio-digito-facial dysplasia", "MONDO:0021239": "urethra neoplasm", "MONDO:0021059": "head or neck disease/disorder", "MONDO:0021070": "sublingual gland carcinoma", "MONDO:0006390": "prostate small cell carcinoma", "MONDO:0006613": "stromal corneal pigmentation", "MONDO:0022700": "cerebral palsy spastic monoplegic", "MONDO:0004340": "mixed ductal-endocrine carcinoma of pancreas", "MONDO:0004885": "choroidal sclerosis", "MONDO:0002850": "central nervous system rhabdomyosarcoma", "MONDO:0004591": "impetigo herpetiformis", "MONDO:0043735": "osteoradionecrosis", "MONDO:0001190": "Brucella suis brucellosis", "MONDO:0004484": "gallbladder melanoma", "MONDO:0003703": "uterine corpus leiomyomatosis", "MONDO:0003466": "spindle cell synovial sarcoma", "MONDO:0004253": "intraductal breast papillomatosis", "MONDO:0100075": "jaw fracture", "MONDO:0005445": "visceral leishmaniasis", "MONDO:0001708": "pulmonary sarcoidosis", "MONDO:0043224": "multi-infarct dementia", "MONDO:0000762": "syndrome caused by partial chromosomal duplication", "MONDO:0043969": "nocturnal paroxysmal dystonia", "MONDO:0002762": "esophagus verrucous carcinoma", "MONDO:0006593": "pelvic lipomatosis", "MONDO:0005294": "peripheral vascular disease", "MONDO:0006848": "marasmus", "MONDO:0000215": "epilepsy, familial focal, with variable foci", "MONDO:0002868": "bile duct mucinous cystic neoplasm with an associated invasive carcinoma", "MONDO:0003876": "eyelid carcinoma", "MONDO:0022469": "aortic arches defect", "MONDO:0005120": "Drosophila C virus infection", "MONDO:0019775": "Chudley-Lowry-Hoar syndrome", "MONDO:0004658": "breast carcinoma in situ", "MONDO:0021447": "benign neoplasm of testis", "MONDO:0030502": "tetrasomy", "MONDO:0000882": "myeloid and lymphoid neoplasms associated with PDGFRA rearrangement", "MONDO:0005874": "neuroschistosomiasis", "MONDO:0005783": "hemopericardium (disease)", "MONDO:0003770": "thoracic spinal canal and spinal cord meningioma", "MONDO:0043875": "tumor lysis syndrome", "MONDO:0021508": "benign neoplasm of epicardium", "MONDO:0002174": "preretinal fibrosis", "MONDO:0001266": "erysipelas", "MONDO:0044998": "carpal region disease", "MONDO:0021454": "benign neoplasm of eye", "MONDO:0002638": "glossopharyngeal nerve neoplasm", "MONDO:0001979": "dumping syndrome", "MONDO:0003729": "aleukemic leukemia cutis", "MONDO:0024637": "malignant soft tissue neoplasm", "MONDO:0021242": "sublingual gland neoplasm", "MONDO:0000734": "Ohdo syndrome and variants", "MONDO:0000240": "invasive aspergillosis", "MONDO:0006031": "chronic rhinosinusitis", "MONDO:0006666": "atrophy of thyroid", "MONDO:0002554": "sympathetic neurilemmoma", "MONDO:0001706": "cerebral sarcoidosis", "MONDO:0006947": "renovascular hypertension (disease)", "MONDO:0022171": "chromhidrosis", "MONDO:0023290": "grix Blankenship Peterson syndrome", "MONDO:0021331": "carcinoma of parotid gland", "MONDO:0005291": "brain aneurysm", "MONDO:0004117": "ampulla of vater small cell neuroendocrine carcinoma", "MONDO:0003661": "breast lymphoma", "MONDO:0005814": "intestinal cancer", "MONDO:0044999": "scalp disease", "MONDO:0001017": "epididymal adenocarcinoma", "MONDO:0023050": "ectrodactyly cardiopathy dysmorphism", "MONDO:0000712": "FTDALS", "MONDO:0004764": "fibular collateral ligament bursitis", "MONDO:0000740": "adenoid hypertrophy", "MONDO:0009700": "Carey-Fineman-Ziter syndrome", "MONDO:0044138": "hyalitis", "MONDO:0003214": "apocrine adenocarcinoma", "MONDO:0006540": "dyshidrosis", "MONDO:0004840": "non-congenital cyst of kidney", "MONDO:0005254": "symptomatic heart failure", "MONDO:0004151": "spinal meninges cancer", "MONDO:0006089": "appendix goblet cell carcinoid", "MONDO:0002438": "acquired polycythemia", "MONDO:0004904": "toxic maculopathy", "MONDO:0001160": "dissociative disorder", "MONDO:0005232": "large cell carcinoma", "MONDO:0021311": "malignant tumor of parathyroid gland", "MONDO:0005127": "lepromatous leprosy", "MONDO:0001229": "small intestine diverticulitis", "MONDO:0100066": "TH-deficient progressive infantile encephalopathy", "MONDO:0003152": "adult brainstem gliosarcoma", "MONDO:0003811": "ovarian seromucinous tumor", "MONDO:0001823": "sick sinus syndrome", "MONDO:0016849": "Nakajo-Nishimura syndrome", "MONDO:0041447": "metastatic malignant neoplasm in the colon", "MONDO:0043226": "postpartum amenorrhea-galactorrhea syndrome", "MONDO:0002618": "undifferentiated high grade pleomorphic sarcoma of bone", "MONDO:0006903": "peroneal nerve paralysis", "MONDO:0000616": "progesterone-receptor negative breast cancer", "MONDO:0015938": "systemic disease", "MONDO:0004754": "rectal prolapse (disease)", "MONDO:0001575": "chronic gonococcal salpingitis", "MONDO:0022553": "BD syndrome", "MONDO:0000788": "fish allergy", "MONDO:0006184": "ductal breast carcinoma in situ and lobular carcinoma in situ", "MONDO:0024461": "angiomatosis", "MONDO:0024268": "superficial mycosis", "MONDO:0004207": "pulmonary artery leiomyosarcoma", "MONDO:0044880": "cystic tumor of the pancreas", "MONDO:0002646": "viral laryngitis", "MONDO:0005753": "epiglottitis", "MONDO:0001890": "pulp erosion", "MONDO:0021524": "benign neoplasm of buccal mucosa", "MONDO:0001529": "pancytopenia", "MONDO:0003191": "rete ovarii adenocarcinoma", "MONDO:0003744": "spindle cell intraocular melanoma", "MONDO:0004098": "malignant melanocytic peripheral nerve sheath tumor of mediastinum", "MONDO:0022777": "cleft lip palate dysmorphism kumar type", "MONDO:0024572": "immunodeficiency-related disorder", "MONDO:0037937": "pyrimidine metabolism disease", "MONDO:0003724": "non-proliferative fibrocystic change of the breast", "MONDO:0021283": "malignant teratoma of mediastinum", "MONDO:0000045": "hypothyroidism, congenital, nongoitrous", "MONDO:0003780": "T-cell immunodeficiency", "MONDO:0002436": "nose disease", "MONDO:0001674": "diverticulitis of colon", "MONDO:0024950": "horse disease", "MONDO:0021364": "neoplasm of oropharynx", "MONDO:0003931": "childhood optic tract astrocytoma", "MONDO:0024886": "serous adenofibroma", "MONDO:0004317": "multiple spinal canal and spinal cord meningioma", "MONDO:0006522": "acquired keratosis", "MONDO:0003857": "adult intracranial malignant hemangiopericytoma", "MONDO:0022823": "congenital contractures", "MONDO:0005080": "portal hypertension", "MONDO:0022639": "Cantu sanchez-corona Garcia-Cruz syndrome", "MONDO:0043183": "podder-tolmie syndrome", "MONDO:0002211": "B cell deficiency", "MONDO:0000483": "oculogyric crisis", "MONDO:0044037": "livedo reticularis", "MONDO:0021493": "benign neoplasm of minor salivary gland", "MONDO:0021085": "gastric neoplasm", "MONDO:0021367": "leukemia, myeloid, accelerated-phase", "MONDO:0023007": "drachtman weinblatt sitarz syndrome", "MONDO:0001673": "diarrheal disease", "MONDO:0003086": "thymic mucoepidermoid carcinoma", "MONDO:0002501": "brain glioblastoma", "MONDO:0003943": "central nervous system hibernoma", "MONDO:0000879": "cutaneous candidiasis", "MONDO:0002463": "lacrimal gland carcinoma", "MONDO:0005959": "sick building syndrome", "MONDO:0004834": "ischemic fasciitis", "MONDO:0060766": "anal polyp", "MONDO:0001436": "hemosiderosis", "MONDO:0002489": "malignant breast phyllodes tumor", "MONDO:0003570": "lipid-rich carcinoma", "MONDO:0020659": "upper tract urothelial carcinoma", "MONDO:0022605": "brachymetapody anodontia hypotrichosis albinoidism", "MONDO:0004231": "spindle cell variant squamous cell breast carcinoma", "MONDO:0021443": "benign neoplasm of lymph node", "MONDO:0001837": "acute gonococcal salpingitis", "MONDO:0003034": "mediastinum angiosarcoma", "MONDO:0006021": "Prinzmetal angina", "MONDO:0022461": "anophthalmia cleft palate micrognathia", "MONDO:0005999": "tuberculous empyema", "MONDO:0040925": "latent yaws", "MONDO:0002970": "ciliary body disease", "MONDO:0022998": "distal arthrogryposis Moore weaver type", "MONDO:0001523": "luxation of globe", "MONDO:0004540": "epithelioid malignant peripheral nerve sheath tumor", "MONDO:0005193": "prostate intraepithelial neoplasia", "MONDO:0043988": "zoster sine herpete", "MONDO:0004934": "periostitis (disease)", "MONDO:0000241": "Keshan disease", "MONDO:0003124": "testicular Leydig cell tumor", "MONDO:0021520": "benign neoplasm of floor of mouth", "MONDO:0043343": "Chilaiditi syndrome", "MONDO:0001074": "chronic tic disorder", "MONDO:0004220": "endometrial endometrioid adenocarcinoma with spindled epithelial cells", "MONDO:0001532": "capillariasis", "MONDO:0003248": "adult pineal parenchymal tumor", "MONDO:0001463": "splenic flexure cancer", "MONDO:0004438": "sporadic breast cancer", "MONDO:0021510": "benign neoplasm of prostate", "MONDO:0100064": "tyrosine hydroxylase deficiency", "MONDO:0002204": "transient arthritis", "MONDO:0001358": "bronchial disease", "MONDO:0001816": "scleroperikeratitis", "MONDO:0021583": "melanocytic skin neoplasm", "MONDO:0000022": "nocturnal enuresis", "MONDO:0000928": "eyelid melanoma", "MONDO:0004605": "chronic ulcer of skin", "MONDO:0000119": "congenital heart defects, multiple types", "MONDO:0006393": "rectal traditional serrated adenoma", "MONDO:0020661": "undifferentiated round cell sarcoma", "MONDO:0002105": "toxic megacolon", "MONDO:0002267": "obstructive lung disease", "MONDO:0044137": "vitreous body disorder", "MONDO:0003487": "pseudoglandular squamous cell carcinoma", "MONDO:0020725": "anemia due to chronic disorder", "MONDO:0006337": "ovarian endometriosis", "MONDO:0006963": "sebaceous gland neoplasm", "MONDO:0006978": "splenic infarction", "MONDO:0022418": "alopecia immunodeficiency", "MONDO:0001217": "pseudomembranous conjunctivitis", "MONDO:0002750": "bladder colloid adenocarcinoma", "MONDO:0005776": "gnathomiasis", "MONDO:0008820": "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies", "MONDO:0022809": "Colver Steer Godman syndrome", "MONDO:0006311": "myelodysplastic/myeloproliferative Neoplasm", "MONDO:0003040": "retrograde amnesia", "MONDO:0021507": "benign neoplasm of brain stem", "MONDO:0003353": "heart leiomyosarcoma", "MONDO:0005642": "atopic conjunctivitis", "MONDO:0003828": "growth hormone-producing pituitary gland carcinoma", "MONDO:0004847": "senile cataract", "MONDO:0000387": "hypochromic microcytic anemia (disease)", "MONDO:0004742": "primary cerebellar degeneration", "MONDO:0003410": "Wolffian duct adenocarcinoma", "MONDO:0021209": "heart neoplasm", "MONDO:0002398": "mucinous adenofibroma", "MONDO:0005300": "chronic kidney disease", "MONDO:0001006": "glaucomatous atrophy of optic disc", "MONDO:0006591": "panniculitis", "MONDO:0005303": "drug dependence", "MONDO:0000964": "skin lipoma", "MONDO:0004817": "non-secretory plasma cell myeloma", "MONDO:0004447": "pituitary stalk meningioma", "MONDO:0004065": "intermediate cell type choroid melanoma", "MONDO:0022890": "craniosynostosis Fontaine type", "MONDO:0001113": "Fiedler's myocarditis", "MONDO:0002581": "spindle cell rhabdomyosarcoma", "MONDO:0000218": "preimplantation embryonic lethality", "MONDO:0004105": "childhood epithelioid sarcoma", "MONDO:0006681": "Borrelia infectious disease", "MONDO:0006641": "afferent loop syndrome", "MONDO:0005528": "inborn vitamin metabolic disorder", "MONDO:0002125": "status epilepticus", "MONDO:0002004": "atheroembolism of kidney", "MONDO:0001889": "ovarian dysfunction", "MONDO:0001323": "infant gynecomastia", "MONDO:0005807": "idiopathic CD4-positive T-lymphocytopenia", "MONDO:0002409": "auditory system disease", "MONDO:0054866": "sudden arrhythmia death syndrome", "MONDO:0003928": "uterine corpus myxoid leiomyosarcoma", "MONDO:0043176": "phosphoribosylpyrophosphate synthetase deficiency", "MONDO:0024291": "vascular malformation", "MONDO:0001649": "fungal esophagitis", "MONDO:0040870": "primary polydipsia", "MONDO:0006588": "nonepidermolytic palmoplantar keratoderma", "MONDO:0006014": "vulvovaginal candidiasis", "MONDO:0004647": "in situ carcinoma", "MONDO:0021069": "malignant endocrine neoplasm", "MONDO:0006751": "Erysipelothrix infectious disease", "MONDO:0041095": "malignant otitis externa caused by Pseudomonas aeruginosa", "MONDO:0005183": "ovarian cystadenoma", "MONDO:0004741": "tyrosinemia", "MONDO:0004419": "lymphoma-like variant infiltrating bladder urothelial carcinoma", "MONDO:0004499": "lung hilum carcinoma", "MONDO:0002960": "polyradiculopathy", "MONDO:0003750": "childhood central nervous system germ cell tumor", "MONDO:0004737": "homocystinuria (disease)", "MONDO:0003952": "adult central nervous system choriocarcinoma", "MONDO:0022785": "cleft palate cardiac defect ectrodactyly", "MONDO:0004074": "ovarian mucinous cystadenofibroma", "MONDO:0013141": "autosomal dominant macrothrombocytopenia TUBB1-related", "MONDO:0003772": "cerebral meningioma", "MONDO:0100052": "acetazolamide-responsive hereditary episodic ataxia", "MONDO:0001228": "conjunctival folliculosis", "MONDO:0006140": "cervical mucinous adenocarcinoma, minimal deviation variant", "MONDO:0006116": "breast carcinoma by gene expression profile", "MONDO:0000293": "coenurosis", "MONDO:0000414": "childhood electroclinical syndrome", "MONDO:0001757": "frontal sinus neoplasm", "MONDO:0045058": "ACTH-producing pituitary gland neoplasm", "MONDO:0005449": "conduction system disorder", "MONDO:0024352": "viral respiratory tract infection", "MONDO:0004498": "sacral spinal canal and spinal cord meningioma", "MONDO:0006791": "hyperemesis gravidarum (disease)", "MONDO:0001574": "capillary disease", "MONDO:0005585": "chemotherapy-induced hypertension", "MONDO:0001176": "lens disease", "MONDO:0005506": "eccrine sweat gland cancer", "MONDO:0002760": "bladder squamous cell carcinoma", "MONDO:0010530": "anus, imperforate", "MONDO:0037254": "transitional cell neoplasm", "MONDO:0006282": "lymphangiosarcoma", "MONDO:0019523": "Walker-Warburg syndrome", "MONDO:0005980": "tick infestation", "MONDO:0001845": "uterine corpus lipoleiomyoma", "MONDO:0000927": "asymptomatic neurosyphilis", "MONDO:0006569": "leg dermatosis", "MONDO:0005469": "orthostatic hypotension (disease)", "MONDO:0006625": "altitude sickness", "MONDO:0005350": "abdominal aortic aneurysm", "MONDO:0002459": "type IV hypersensitivity disease", "MONDO:0023543": "Katsantoni-Papadakou-Lagoyanni syndrome", "MONDO:0014253": "autoimmune lymphoproliferative syndrome type 3", "MONDO:0016946": "partial trisomy of the short arm of chromosome 9", "MONDO:0006585": "neurodermatitis", "MONDO:0001855": "rubeosis iridis", "MONDO:0000890": "Zika virus congenital syndrome", "MONDO:0005562": "age-related hearing impairment", "MONDO:0021033": "herpes zoster dermatitis", "MONDO:0002631": "conventional osteosarcoma", "MONDO:0024247": "benign eccrine neoplasm", "MONDO:0010783": "Alzheimer disease, susceptibility to, mitochondrial", "MONDO:0004200": "superficial urinary bladder carcinoma", "MONDO:0037746": "malignant vaginal mixed epithelial and mesenchymal neoplasm", "MONDO:0003295": "leiomyomatosis", "MONDO:0022650": "cardiomyopathy diabetes deafness", "MONDO:0006361": "penile fibromatosis", "MONDO:0025371": "Parvoviridae infectious disease", "MONDO:0024880": "metastatic malignant neoplasm", "MONDO:0024462": "familial cutaneous melanoma", "MONDO:0024341": "retinal cell neoplasm", "MONDO:0021165": "Paget disease", "MONDO:0003276": "middle ear disease", "MONDO:0002828": "Bartholin gland transitional cell carcinoma", "MONDO:0002273": "plasma protein metabolism disease", "MONDO:0006722": "dental fluorosis", "MONDO:0009639": "mitochondrial myopathy with lactic acidosis", "MONDO:0004729": "dyskinesia of esophagus", "MONDO:0004561": "retinal melanoma", "MONDO:0005987": "toxascariasis", "MONDO:0024250": "acute lichenoid pityriasis", "MONDO:0006477": "undifferentiated ovarian carcinoma", "MONDO:0003212": "nasal cavity carcinoma", "MONDO:0044967": "limb disorder", "MONDO:0002379": "cystic teratoma", "MONDO:0002473": "cystic kidney disease", "MONDO:0005202": "atopic IgE-mediated allergic disorder", "MONDO:0012144": "Waardenburg syndrome type 2D", "MONDO:0022746": "chromosome 13p duplication", "MONDO:0001978": "regional ureteric cancer", "MONDO:0021163": "kidney neoplasm", "MONDO:0005104": "aJCC grade 1 sarcoma", "MONDO:0004502": "parapharyngeal meningioma", "MONDO:0006362": "peritoneal mesothelioma (disease)", "MONDO:0006597": "photosensitivity disease", "MONDO:0003246": "sclerosing hepatic carcinoma", "MONDO:0044141": "panic disorder without agoraphobia", "MONDO:0004083": "Borst-Jadassohn intraepidermal carcinoma", "MONDO:0004504": "penile urethral cancer", "MONDO:0002675": "neurofibrosarcoma", "MONDO:0024481": "skin appendage disease", "MONDO:0006817": "juxtacortical osteosarcoma", "MONDO:0042451": "endomyometritis", "MONDO:0001809": "adhesions of uterus", "MONDO:0000785": "peach allergy", "MONDO:0009977": "Knobloch syndrome", "MONDO:0003227": "prosopagnosia (disease)", "MONDO:0006419": "small intestinal intraepithelial neoplasia", "MONDO:0042956": "Saal-Bulas syndrome", "MONDO:0041526": "pregnancy disorder with abortive outcome", "MONDO:0006474": "transitional cell carcinoma", "MONDO:0042972": "meningococcemia", "MONDO:0020782": "chronic gingivitis", "MONDO:0020583": "chromosome 17 abnormality", "MONDO:0006211": "fibrous hamartoma of infancy", "MONDO:0056796": "obstructive nephropathy", "MONDO:0005309": "spinal fracture", "MONDO:0024711": "malignant mixed epithelial stromal tumor of the kidney", "MONDO:0002169": "rectum adenocarcinoma", "MONDO:0006200": "epithelioid cell uveal melanoma", "MONDO:0001817": "acute closed-angle glaucoma", "MONDO:0024480": "dermatosis of eyelid", "MONDO:0001935": "neurogenic arthropathy", "MONDO:0001726": "childhood disintegrative disease", "MONDO:0004970": "adenocarcinoma", "MONDO:0002759": "bladder verrucous carcinoma", "MONDO:0021605": "benign eyelid neoplasm", "MONDO:0020920": "escherichia coli infection", "MONDO:0005938": "renal tuberculosis", "MONDO:0022725": "chondrodysplasia lethal recessive", "MONDO:0001035": "hypopyon ulcer", "MONDO:0006880": "oral leukoedema", "MONDO:0006642": "alcohol withdrawal delirium", "MONDO:0005630": "actinobacillosis", "MONDO:0020604": "X-linked dominant disease", "MONDO:0001808": "chronic subinvolution of uterus", "MONDO:0003556": "endometrial adenosquamous carcinoma", "MONDO:0004875": "xanthogranulomatous cholecystitis", "MONDO:0006757": "extrahepatic cholestasis", "MONDO:0006638": "acute retinal necrosis syndrome", "MONDO:0006190": "endolymphatic sac tumor (disease)", "MONDO:0003443": "papillary urothelial neoplasm", "MONDO:0004876": "myocardial stunning", "MONDO:0003934": "breast apocrine carcinoma", "MONDO:0006378": "pleural epithelioid mesothelioma", "MONDO:0030603": "Klebsiella infectious disease", "MONDO:0002527": "keratoacanthoma", "MONDO:0004601": "ulcer of lower limbs", "MONDO:0044716": "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome", "MONDO:0005277": "migraine disorder", "MONDO:0002137": "noninfectious dermatoses of eyelid", "MONDO:0023203": "Fuchs atrophia gyrata chorioideae et retinae", "MONDO:0014655": "Bethlem myopathy 2", "MONDO:0003684": "clear cell chondrosarcoma", "MONDO:0002477": "prostate neuroendocrine neoplasm", "MONDO:0004367": "petroclival meningioma", "MONDO:0025085": "hepatitis, viral, animal", "MONDO:0024262": "massive neonatal aspiration syndrome", "MONDO:0006345": "palmar fibromatosis", "MONDO:0003972": "gastric body carcinoma", "MONDO:0016597": "generalized pustular psoriasis", "MONDO:0000334": "multinodular goiter", "MONDO:0022675": "cataract skeletal anomalies", "MONDO:0002258": "pharyngitis", "MONDO:0004104": "splenic manifestation of hairy cell leukemia", "MONDO:0000690": "body dysmorphic disorder", "MONDO:0001040": "nasopharyngitis", "MONDO:0001391": "indeterminate leprosy", "MONDO:0024330": "infectious otitis media", "MONDO:0003088": "intramuscular hemangioma", "MONDO:0002655": "cutaneous Paget disease", "MONDO:0006737": "dystocia", "MONDO:0045057": "delirium", "MONDO:0001744": "angle-closure glaucoma", "MONDO:0002747": "endometrial mucinous adenocarcinoma", "MONDO:0025417": "fowlpox", "MONDO:0021287": "carcinoma in situ of epiglottis", "MONDO:0000385": "benign digestive system neoplasm", "MONDO:0003817": "peritoneal serous papillary adenocarcinoma", "MONDO:0045010": "glycoprotein metabolism disease", "MONDO:0004271": "pregnancy adenoma", "MONDO:0001287": "endometriosis in cutaneous scar", "MONDO:0001294": "Horner syndrome", "MONDO:0003343": "retinal hemangioblastoma", "MONDO:0000954": "Meckel diverticulum cancer", "MONDO:0045069": "minor salivary gland carcinoma", "MONDO:0043878": "hereditary optic atrophy", "MONDO:0002696": "Sertoli cell tumor", "MONDO:0021065": "pleural neoplasm", "MONDO:0004955": "metabolic syndrome", "MONDO:0044748": "anaplasmosis in cattle", "MONDO:0004125": "rectum leiomyoma", "MONDO:0003755": "urinary tract non-invasive transitional cell neoplasm", "MONDO:0000550": "extra-adrenal sympathetic paraganglioma", "MONDO:0005670": "blackwater fever", "MONDO:0000632": "uterine benign neoplasm", "MONDO:0005305": "epistaxis", "MONDO:0003757": "paraplegia", "MONDO:0022504": "arthrogryposis spinal muscular atrophy", "MONDO:0003732": "adult central nervous system mature teratoma", "MONDO:0004618": "diplegia of upper limb", "MONDO:0002898": "skin cancer", "MONDO:0000679": "social emotional agnosia", "MONDO:0023197": "frontonasal dysplasia Klippel feil syndrome", "MONDO:0007254": "breast cancer", "MONDO:0024505": "disorder by anatomical region", "MONDO:0002340": "tactile epilepsy", "MONDO:0003180": "cutaneous adenocystic carcinoma", "MONDO:0003628": "pulmonary valve disease", "MONDO:0002395": "renal adenoma", "MONDO:0015322": "Pierre Robin syndrome associated with bone disease", "MONDO:0002664": "extrahepatic bile duct signet ring cell carcinoma", "MONDO:0017412": "2q31.1 microduplication syndrome", "MONDO:0002466": "eye carcinoma", "MONDO:0001607": "intrapelvic lymph node leukemic reticuloendotheliosis", "MONDO:0005636": "adenosarcoma", "MONDO:0001546": "hypermobility of coccyx", "MONDO:0003595": "sclerosing liposarcoma", "MONDO:0000543": "ovarian melanoma", "MONDO:0006401": "salivary gland adenosquamous carcinoma", "MONDO:0006612": "steroid lipomatosis", "MONDO:0002286": "renal artery disease", "MONDO:0006609": "seborrheic infantile dermatitis", "MONDO:0002579": "orbit embryonal rhabdomyosarcoma", "MONDO:0006278": "lung papilloma", "MONDO:0003771": "jugular foramen meningioma", "MONDO:0004521": "adult epithelioid sarcoma", "MONDO:0006594": "pemphigus", "MONDO:0003619": "salpingitis", "MONDO:0056804": "benign neoplasm of peripheral nervous system", "MONDO:0001911": "tracheal calcification", "MONDO:0024879": "metastatic carcinoma", "MONDO:0005621": "vascular brain injury", "MONDO:0002052": "lymphadenitis (disease)", "MONDO:0003701": "thyroid gland diffuse sclerosing papillary carcinoma", "MONDO:0006224": "gastric hamartomatous polyp", "MONDO:0021669": "post-infectious disorder", "MONDO:0000946": "psychologic vaginismus", "MONDO:0021124": "female infertility", "MONDO:0003208": "breast secretory carcinoma", "MONDO:0001031": "purulent acute otitis media", "MONDO:0001167": "spastic diplegia", "MONDO:0001343": "impaired renal function disease", "MONDO:0004829": "Krukenberg carcinoma", "MONDO:0001657": "brain cancer", "MONDO:0044753": "lumbar spinal stenosis", "MONDO:0060782": "premalignant hematological system disease", "MONDO:0000764": "epithelial-stromal TGFBI dystrophy", "MONDO:0021805": "acromesomelic dysplasia, Campailla Martinelli type", "MONDO:0021483": "benign neoplasm of frontal sinus", "MONDO:0006792": "hyperglobulinemic purpura", "MONDO:0021644": "esophageal varices without bleeding", "MONDO:0007292": "celiac artery stenosis from compression by median arcuate ligament of diaphragm", "MONDO:0020710": "amnionitis", "MONDO:0002243": "hemorrhagic disease", "MONDO:0044884": "tonsillar lymphoma", "MONDO:0003481": "dysgerminoma of ovary", "MONDO:0037747": "spinal injury", "MONDO:0004924": "chronic canaliculitis", "MONDO:0006655": "aortic valve prolapse", "MONDO:0024306": "acquired lactic acidosis", "MONDO:0020277": "ectodermal malformation syndrome associated with ocular features", "MONDO:0007017": "vitreous detachment", "MONDO:0024470": "benign chondrogenic neoplasm", "MONDO:0004163": "bladder urachal urothelial carcinoma", "MONDO:0000166": "encephalopathy, acute, infection-induced", "MONDO:0003238": "cervical adenomyoma", "MONDO:0009078": "Jervell and Lange-Nielsen syndrome", "MONDO:0004408": "schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma", "MONDO:0024322": "disorder of glycosylation", "MONDO:0024276": "glandular cell neoplasm", "MONDO:0001148": "iliac vein thrombophlebitis", "MONDO:0020342": "congenital myopathy with excess of thin filaments", "MONDO:0004323": "muscular atrophy", "MONDO:0002532": "squamous cell neoplasm", "MONDO:0000834": "bone deterioration disease", "MONDO:0004250": "extrahepatic bile duct papillary adenoma", "MONDO:0004172": "uterine corpus adenocarcinofibroma", "MONDO:0021935": "aspergillus niger infection", "MONDO:0008480": "odontochondrodysplasia", "MONDO:0005318": "canker sore", "MONDO:0000979": "pinta disease", "MONDO:0006531": "cholesteatoma of attic", "MONDO:0005397": "goiter (disease)", "MONDO:0003529": "acute pyelonephritis", "MONDO:0002707": "breast mucinous carcinoma", "MONDO:0043904": "leishmaniasis, diffuse cutaneous", "MONDO:0023283": "ovarian granulosa cell tumor", "MONDO:0000942": "corneal disease", "MONDO:0043137": "isolated microcephaly", "MONDO:0004301": "fibrosarcomatous osteosarcoma", "MONDO:0011231": "FEB2", "MONDO:0044987": "face disease", "MONDO:0043759": "abdominal ectopic pregnancy", "MONDO:0002042": "mechanical ectropion", "MONDO:0000172": "muscular dystrophy-dystroglycanopathy, type B", "MONDO:0002531": "skin neoplasm", "MONDO:0003994": "botryoid-type embryonal rhabdomyosarcoma of the vagina", "MONDO:0005768": "gastrointestinal tuberculosis", "MONDO:0002469": "lacrimal gland carcinoma ex pleomorphic adenoma", "MONDO:0001851": "primary lacrimal atrophy", "MONDO:0042969": "partial duplication of the long arm of chromosome 12", "MONDO:0021120": "functioning endocrine neoplasm", "MONDO:0003768": "signet ring cell variant cervical mucinous adenocarcinoma", "MONDO:0004608": "oropharynx cancer", "MONDO:0056816": "vulvar neuroendocrine carcinoma", "MONDO:0004718": "xeroderma of eyelid", "MONDO:0022740": "Christian Johnson angenieta syndrome", "MONDO:0003441": "dystonic disorder", "MONDO:0003394": "dental pulp disease", "MONDO:0003506": "pulmonary artery choriocarcinoma", "MONDO:0003303": "neurofibroma of gallbladder", "MONDO:0001055": "conjunctival pterygium", "MONDO:0003654": "childhood parosteal osteosarcoma", "MONDO:0000338": "variola major infectious disease", "MONDO:0001952": "parietal lobe cancer", "MONDO:0004266": "anal gland adenocarcinoma", "MONDO:0002963": "acantholytic acanthoma", "MONDO:0024458": "disease of visual system", "MONDO:0021047": "breast phyllodes tumor", "MONDO:0020732": "progeria", "MONDO:0000581": "lambda 5 deficiency", "MONDO:0000661": "alexithymia", "MONDO:0021663": "sarcomatoid squamous cell carcinoma", "MONDO:0002259": "gonadal disease", "MONDO:0007326": "paroxysmal nonkinesigenic dyskinesia 1", "MONDO:0002242": "coagulation protein disease", "MONDO:0001231": "orbital periostitis", "MONDO:0060765": "fibroepithelial polyp", "MONDO:0002626": "spinal accessory nerve neoplasm", "MONDO:0006710": "complex partial epilepsy", "MONDO:0004050": "telangiectatic osteogenic sarcoma", "MONDO:0022937": "deafness conductive stapedial ear malformation facial palsy", "MONDO:0001582": "cicatricial ectropion", "MONDO:0003599": "vulvar liposarcoma", "MONDO:0001720": "gonococcal synovitis", "MONDO:0021354": "tumor of adipose tissue", "MONDO:0005541": "spondylolysis (disease)", "MONDO:0021680": "streptococcal infection", "MONDO:0022818": "congenital aneurysms of the great vessels", "MONDO:0021148": "female reproductive system neoplasm", "MONDO:0023833": "multifocal choroiditis", "MONDO:0006268": "liver diffuse large B-cell lymphoma", "MONDO:0003087": "mucoepidermoid breast carcinoma", "MONDO:0005527": "toxic encephalopathy", "MONDO:0023158": "Fitz-Hugh-Curtis syndrome", "MONDO:0000291": "granulomatous amebic encephalitis", "MONDO:0002454": "thyroid adenoma (disease)", "MONDO:0022555": "Beardwell syndrome", "MONDO:0003140": "immune-complex glomerulonephritis", "MONDO:0001901": "selective IgG subclass deficiency", "MONDO:0002370": "ovarian Brenner tumor", "MONDO:0006554": "granuloma annulare", "MONDO:0005946": "rhinosporidiosis", "MONDO:0022734": "chorioretinopathy dominant form microcephaly", "MONDO:0024421": "short stature contractures hypotonia", "MONDO:0004773": "iridocyclitis (disease)", "MONDO:0006840": "lymphangiectasis", "MONDO:0004289": "glottis verrucous carcinoma", "MONDO:0002984": "reticulohistiocytic granuloma", "MONDO:0021058": "neoplastic syndrome", "MONDO:0002056": "breast fibroadenoma", "MONDO:0024377": "circadian rhythm sleep disorder, delayed sleep phase type", "MONDO:0001150": "hydrocephalus", "MONDO:0003568": "disorder of optic chiasm", "MONDO:0019184": "ankylostomiasis", "MONDO:0010975": "arrhythmogenic right ventricular dysplasia 2", "MONDO:0000339": "spinal polio", "MONDO:0021460": "benign neoplasm of salivary gland", "MONDO:0022462": "anophthalmia esophageal atresia cryptorchidism", "MONDO:0004024": "spinal cord neuroblastoma", "MONDO:0006519": "rectal cancer", "MONDO:0002101": "facial nerve neoplasm", "MONDO:0002710": "infiltrating angiolipoma", "MONDO:0024387": "benign ovarian sex cord-stromal tumor", "MONDO:0021345": "carcinoma of pharynx", "MONDO:0002939": "skin pigmented basal cell carcinoma", "MONDO:0000569": "autoimmune disease of endocrine system", "MONDO:0021957": "autosomal recessive nonsyndromic congenital nuclear cataract", "MONDO:0002326": "alcohol-induced mental disorder", "MONDO:0002451": "benign prostate phyllodes tumor", "MONDO:0002852": "mediastinum sarcoma", "MONDO:0023561": "Koone-Rizzo-Elias syndrome", "MONDO:0003079": "mastocytoma", "MONDO:0005335": "colorectal neoplasm", "MONDO:0023040": "ectodermal dysplasia Bartalos type", "MONDO:0003541": "adult acute lymphoblastic leukemia", "MONDO:0021722": "vulvodynia", "MONDO:0002842": "bacterial gastritis", "MONDO:0002104": "conversion disorder", "MONDO:0001526": "labia minora cancer", "MONDO:0007607": "Birt-Hogg-Dube syndrome", "MONDO:0004911": "cardiovascular syphilis", "MONDO:0000637": "musculoskeletal system cancer", "MONDO:0006142": "cervical small cell carcinoma", "MONDO:0004261": "periductal breast myoepitheliosis", "MONDO:0041167": "carcinoid crisis", "MONDO:0004868": "biliary tract disease", "MONDO:0006482": "ureter small cell carcinoma", "MONDO:0002897": "secondary syphilis", "MONDO:0025369": "Nairobi sheep disease", "MONDO:0004932": "null-cell leukemia", "MONDO:0004337": "perianal skin Paget disease", "MONDO:0018527": "osteoclastic giant cell tumor of pancreas", "MONDO:0005207": "choriocarcinoma (disease)", "MONDO:0005042": "head disease", "MONDO:0002712": "epidural spinal canal angiolipoma", "MONDO:0004081": "extrahepatic bile duct clear cell adenocarcinoma", "MONDO:0006716": "coronary thrombosis", "MONDO:0002322": "angiodysplasia", "MONDO:0001144": "partial third-nerve palsy", "MONDO:0021577": "malignant mediastinal neural neoplasm", "MONDO:0001209": "common wart", "MONDO:0006975": "smooth muscle tumor", "MONDO:0006489": "vaginal melanoma", "MONDO:0040922": "latent early syphilis", "MONDO:0000276": "Powassan encephalitis", "MONDO:0002518": "gallbladder papillary neoplasm", "MONDO:0042493": "gastric non-hodgkin lymphoma", "MONDO:0006631": "osteoarthritis, toe", "MONDO:0003174": "spinal cord astrocytoma", "MONDO:0021659": "combined carcinoid and adenocarcinoma", "MONDO:0005144": "familial amyotrophic lateral sclerosis", "MONDO:0001099": "lactocele", "MONDO:0060783": "classic congenital adrenal hyperplasia", "MONDO:0003555": "Bartholin gland adenosquamous carcinoma", "MONDO:0021811": "acute mountain sickness", "MONDO:0004960": "monoclonal gammopathy", "MONDO:0022873": "corpus callosum dysgenesis cleft spasm", "MONDO:0006471": "tracheal adenoid cystic carcinoma", "MONDO:0021834": "Akaba Hayasaka syndrome", "MONDO:0005118": "human granulocytic ehrlichiosis", "MONDO:0003029": "skin angiosarcoma", "MONDO:0022794": "chromosome 8 deletion", "MONDO:0024487": "nail infection", "MONDO:0000722": "non-syndromic synpolydactyly", "MONDO:0001403": "labium majus cancer", "MONDO:0004052": "rectal cloacogenic carcinoma", "MONDO:0023538": "Kaplowitz-Bodurtha syndrome", "MONDO:0001824": "polyneuropathy", "MONDO:0019663": "short rib-polydactyly syndrome, Saldino-Noonan type", "MONDO:0018275": "salt and pepper syndrome", "MONDO:0006469": "tibial adamantinoma", "MONDO:0003898": "pediatric myxoid chondrosarcoma", "MONDO:0001622": "mechanical lagophthalmos", "MONDO:0021046": "breast fibroepithelial neoplasm", "MONDO:0001125": "acute gonococcal epididymo-orchitis", "MONDO:0006983": "subclavian steal syndrome", "MONDO:0004414": "tamoxifen-related endometrial lesion", "MONDO:0023175": "Fontaine farriaux blanckaert syndrome", "MONDO:0001536": "vaginal leiomyoma", "MONDO:0002801": "colonic pseudo-obstruction", "MONDO:0042971": "congenital herpes virus infection", "MONDO:0018641": "paroxysmal nocturnal hemoglobinuria", "MONDO:0004405": "Barrett adenocarcinoma", "MONDO:0001689": "hypertrophy of tongue papillae", "MONDO:0003890": "infiltrating bladder urothelial carcinoma", "MONDO:0003196": "appendix carcinoma", "MONDO:0043162": "pagon stephan syndrome", "MONDO:0000336": "meningovascular neurosyphilis", "MONDO:0003305": "cellular neurofibroma", "MONDO:0023098": "extrasystoles short stature hyperpigmentation microcephaly", "MONDO:0006626": "diabetic neuropathy", "MONDO:0004685": "Waldeyer's ring cancer", "MONDO:0005377": "nephrotic syndrome", "MONDO:0001838": "acute gonococcal prostatitis", "MONDO:0024315": "parasitic endophthalmitis", "MONDO:0006895": "penile neoplasm", "MONDO:0002333": "splenic abscess (disease)", "MONDO:0044977": "disease of receptor activity", "MONDO:0002516": "digestive system cancer", "MONDO:0004800": "chronic dacryoadenitis", "MONDO:0005722": "croup", "MONDO:0025130": "swine vesicular disease", "MONDO:0005092": "signet ring cell carcinoma", "MONDO:0036501": "refractory malignant neoplasm", "MONDO:0006327": "ocular sebaceous carcinoma", "MONDO:0001152": "amnestic disorder", "MONDO:0006808": "intracranial arterial disease", "MONDO:0023079": "epidermal nevus vitamin D resistant rickets", "MONDO:0022854": "congenital unilateral pulmonary hypoplasia", "MONDO:0007543": "enolase, sperm specific", "MONDO:0023200": "Fryns Fabry Remans syndrome", "MONDO:0001021": "ametropic amblyopia", "MONDO:0003495": "ovarian squamous cell neoplasm", "MONDO:0006257": "jejunal neuroendocrine tumor G1", "MONDO:0003322": "epithelial predominant Wilms' tumor", "MONDO:0037938": "inborn disorder of aspartate family metabolism", "MONDO:0002640": "optic nerve neoplasm", "MONDO:0006157": "colorectal adenosquamous carcinoma", "MONDO:0054868": "meconium ileus", "MONDO:0021147": "disorder of development or morphogenesis", "MONDO:0018466": "hereditary late onset Parkinson disease", "MONDO:0020580": "germinomatous germ cell tumor", "MONDO:0002256": "cervix disease", "MONDO:0043077": "weinstein kliman scully syndrome", "MONDO:0005740": "Echovirus infectious disease", "MONDO:0005644": "amebiasis", "MONDO:0004979": "asthma", "MONDO:0006635": "Acinetobacter infectious disease", "MONDO:0024304": "ichthyosis vulgaris", "MONDO:0002714": "central nervous system cancer", "MONDO:0003089": "extrahepatic bile duct mucoepidermoid carcinoma", "MONDO:0001921": "chronic atticoantral disease", "MONDO:0022889": "craniostenosis with congenital heart disease mental retardation", "MONDO:0044816": "familial idiopathic torsion dystonia", "MONDO:0006349": "papillary cystic neoplasm", "MONDO:0001484": "paranoid schizophrenia", "MONDO:0001791": "neonatal urinary tract infectious disease", "MONDO:0044767": "childhood adrenal gland pheochromocytoma", "MONDO:0006927": "Rickettsiaceae infectious disease", "MONDO:0004202": "adrenal medulla carcinoma", "MONDO:0022778": "cleft lip palate mental retardation corneal opacity", "MONDO:0029146": "Saul-Wilson syndrome", "MONDO:0006007": "vesicoureteral reflux (disease)", "MONDO:0004309": "sarcomatosis", "MONDO:0006799": "hypothalamic neoplasm", "MONDO:0004808": "benign mammary dysplasia", "MONDO:0000486": "craniofacial dystonia", "MONDO:0024340": "retinal neuroblastoma", "MONDO:0004358": "subglottis carcinoma", "MONDO:0002768": "true hermaphroditism", "MONDO:0005447": "testicular cancer", "MONDO:0001474": "chronic salpingo-oophoritis", "MONDO:0021505": "benign neoplasm of endocardium", "MONDO:0004252": "small intestinal L-cell glucagon-like peptide producing tumor", "MONDO:0001874": "toxic labyrinthitis", "MONDO:0005536": "pancolitis", "MONDO:0001406": "peripheral nervous system neoplasm", "MONDO:0001613": "vertebrobasilar insufficiency", "MONDO:0023180": "fragile X syndrome type 3", "MONDO:0002022": "disease of orbital region", "MONDO:0002478": "mixed germ cell-sex cord-stromal tumor", "MONDO:0002659": "uveal cancer", "MONDO:0001312": "acute serous otitis media", "MONDO:0020643": "autism susceptibility 1", "MONDO:0004015": "pineal region teratoma", "MONDO:0001106": "kidney failure", "MONDO:0001857": "Brucella canis brucellosis", "MONDO:0000390": "vitelliform macular dystrophy", "MONDO:0044915": "salivary duct carcinoma", "MONDO:0021333": "carcinoma of lip", "MONDO:0027091": "xanthogranulomatous sialadenitis", "MONDO:0002833": "fallopian tube transitional cell carcinoma", "MONDO:0006637": "acute kidney tubular necrosis", "MONDO:0004815": "osteosclerotic plasma cell myeloma", "MONDO:0004135": "subacute lymphocytic thyroiditis", "MONDO:0001435": "bullous retinoschisis", "MONDO:0003693": "clear cell cystadenofibroma", "MONDO:0006752": "Erysipelothrix rhusiopathiae infectious disease", "MONDO:0002357": "hepatic flexure cancer", "MONDO:0006271": "low grade central osteosarcoma", "MONDO:0002316": "motor peripheral neuropathy", "MONDO:0020660": "osteoblastic osteosarcoma", "MONDO:0003154": "hemangioma of peripheral nerve", "MONDO:0005632": "acute chest syndrome", "MONDO:0004473": "epiglottis cancer", "MONDO:0003232": "alcoholic pancreatitis", "MONDO:0002219": "paraurethral gland neoplasm", "MONDO:0004038": "dental enamel hypoplasia", "MONDO:0015321": "Pierre Robin syndrome associated with branchial archs anomalies", "MONDO:0020593": "trichoblastoma", "MONDO:0006910": "obsolete pituitary-dependent Cushing disease", "MONDO:0001739": "purulent labyrinthitis", "MONDO:0006803": "inferior myocardial infarction", "MONDO:0021040": "pancreatic neoplasm", "MONDO:0004007": "breast intraductal proliferative lesion", "MONDO:0005947": "rickettsial pneumonia", "MONDO:0006624": "overactive bladder (disease)", "MONDO:0006090": "appendix hyperplastic polyp", "MONDO:0024615": "T-cell and NK-cell neoplasm", "MONDO:0005780": "hantavirus infectious disease", "MONDO:0037742": "endometrioid stromal and related neoplasms", "MONDO:0000510": "synucleinopathy", "MONDO:0003639": "lung hilum neoplasm", "MONDO:0004675": "mitochondrial encephalomyopathy", "MONDO:0001835": "facial paralysis", "MONDO:0020629": "microcephaly, growth restriction and increased sister chromatid exchange", "MONDO:0001446": "low compliance bladder", "MONDO:0002230": "ovarian Wilms tumor", "MONDO:0044978": "disease of cell nucleus", "MONDO:0012018": "myopathy, myosin storage, autosomal dominant", "MONDO:0022018": "Borrone di Rocco Crovato syndrome", "MONDO:0004444": "bladder tubulo-cystic clear cell adenocarcinoma", "MONDO:0100065": "TH-deficient infantile parkinsonism and motor delay", "MONDO:0016317": "limbic encephalitis with NMDA receptor antibodies", "MONDO:0004763": "carotid artery dissection", "MONDO:0001854": "lacrimal apparatus disease", "MONDO:0001136": "chylocele of tunica vaginalis", "MONDO:0003979": "intrahepatic bile duct cystadenoma", "MONDO:0001007": "chronic meningitis", "MONDO:0006887": "parametritis", "MONDO:0004832": "esophagus leiomyoma", "MONDO:0001920": "chronic purulent otitis media", "MONDO:0006689": "carcinoid syndrome", "MONDO:0005184": "pancreatic ductal adenocarcinoma", "MONDO:0044781": "nephrotic syndrome of childhood - steroid sensitive", "MONDO:0021280": "mucoepidermoid carcinoma of parotid gland", "MONDO:0001501": "retroperitoneal sarcoma", "MONDO:0024288": "hyperbilirubinemia", "MONDO:0024666": "benign epithelial skin neoplasm", "MONDO:0024502": "gallbladder neuroendocrine neoplasm", "MONDO:0003983": "synchronous bilateral breast carcinoma", "MONDO:0000078": "acrocephalopolysyndactyly", "MONDO:0001081": "acute cervicitis", "MONDO:0023551": "C1q nephropathy", "MONDO:0005836": "male reproductive organ cancer", "MONDO:0024389": "anaerobic bacteria infectious disease", "MONDO:0022314": "Hernandez Aguirre-Negrete syndrome", "MONDO:0001867": "phaeohyphomycosis", "MONDO:0005185": "chronic childhood arthritis", "MONDO:0005973": "Strongylida infectious disease", "MONDO:0045071": "mycosis fungoides variant", "MONDO:0000600": "nosophobia", "MONDO:0001159": "multiple personality disorder", "MONDO:0021289": "carcinoma in situ of cecum", "MONDO:0004551": "Meckel diverticulitis", "MONDO:0002514": "hepatobiliary neoplasm", "MONDO:0021273": "leiomyoma of ciliary body", "MONDO:0003452": "cochlear disease", "MONDO:0005912": "phencyclidine abuse", "MONDO:0003963": "diffuse infiltrative lymphocytosis syndrome", "MONDO:0003435": "microcystic adenoma", "MONDO:0003704": "uterine corpus diffuse leiomyomatosis", "MONDO:0003135": "focal embolic glomerulonephritis", "MONDO:0004728": "diabetic macular edema", "MONDO:0005748": "enzootic pneumonia of calves", "MONDO:0023084": "epiphyseal dysplasia dysmorphism camptodactyly", "MONDO:0000075": "neuronopathy, distal hereditary motor", "MONDO:0005981": "tick paralysis", "MONDO:0006432": "stromal predominant kidney Wilms tumor", "MONDO:0022454": "angiosarcoma of the scalp", "MONDO:0002385": "benign cystic nephroma", "MONDO:0024626": "defective phagocytic cell engulfment", "MONDO:0001079": "pancreatic steatorrhea", "MONDO:0001386": "visual epilepsy", "MONDO:0018812": "MSH3-related attenuated familial adenomatous polyposis", "MONDO:0023388": "pityriasis rotunda", "MONDO:0005516": "osteochondrodysplasia", "MONDO:0003320": "blastema predominant kidney Wilms tumor", "MONDO:0021747": "Acanthamoeba infectious disease", "MONDO:0001896": "obstructive hydrocephalus", "MONDO:0030703": "autoimmune vasculitis", "MONDO:0023129": "Fara Chlupackova syndrome", "MONDO:0003210": "intrahepatic cholangiocarcinoma", "MONDO:0003370": "retroperitoneal leiomyosarcoma", "MONDO:0002617": "bone angiosarcoma", "MONDO:0003205": "renal pelvis adenocarcinoma", "MONDO:0002989": "benign fibrous histiocytoma", "MONDO:0001719": "gonococcal bursitis", "MONDO:0040871": "psychogenic polydipsia", "MONDO:0005588": "chemotherapy-induced oral mucositis", "MONDO:0023113": "familial colorectal cancer", "MONDO:0021838": "Al Gazali Khidr Prem Chandran syndrome", "MONDO:0003783": "lymphopenia (disease)", "MONDO:0021514": "benign neoplasm of pericardium", "MONDO:0002917": "disease of pilosebaceous unit", "MONDO:0003237": "adenomyoma of uterine corpus", "MONDO:0004925": "chronic dacryocystitis", "MONDO:0003424": "oncocytic adenoma", "MONDO:0002425": "rectosigmoid junction cancer", "MONDO:0022568": "bidirectional tachycardia", "MONDO:0002592": "invasive malignant thymoma", "MONDO:0024985": "sheep disease", "MONDO:0003848": "ectopic thymus", "MONDO:0006366": "Peutz-Jeghers polyp of the stomach", "MONDO:0002802": "functional colonic disease", "MONDO:0003610": "rete ovarii cystadenoma", "MONDO:0001765": "polyneuropathy in collagen vascular disease", "MONDO:0001430": "deep corneal vascularisation", "MONDO:0001137": "Murray valley encephalitis", "MONDO:0100020": "atypical childhood epilepsy with centrotemporal spikes", "MONDO:0000741": "angular cheilitis", "MONDO:0001277": "cerebral arteritis", "MONDO:0044749": "X-linked congenital stationary night blindness", "MONDO:0005132": "cytomegalovirus infection", "MONDO:0003218": "adenocarcinoma in situ", "MONDO:0021506": "benign neoplasm of spinal cord", "MONDO:0021960": "ureteritis", "MONDO:0007743": "attention deficit-hyperactivity disorder", "MONDO:0024416": "Neorickettsia infectious disease", "MONDO:0005523": "steroid inherited metabolic disorder", "MONDO:0021099": "intraductal papillomatosis", "MONDO:0005076": "periodontitis", "MONDO:0002449": "nodular degeneration of cornea", "MONDO:0100008": "food protein-induced enterocolitis syndrome", "MONDO:0004622": "chronic intestinal vascular insufficiency", "MONDO:0020589": "cardiac germ cell tumor", "MONDO:0006244": "HER2 positive breast carcinoma", "MONDO:0003869": "childhood brain stem glioma", "MONDO:0001539": "retinal perforation", "MONDO:0005927": "polyomavirus infectious disease", "MONDO:0001690": "parasitic conjunctivitis", "MONDO:0004492": "mediastinitis", "MONDO:0002928": "carcinosarcoma", "MONDO:0020694": "salivary gland epithelial myoepithelial carcinoma", "MONDO:0007239": "epidermolytic hyperkeratosis", "MONDO:0002612": "frontal lobe epilepsy", "MONDO:0023071": "enterovirus antenatal infection", "MONDO:0005884": "opisthorchiasis", "MONDO:0006493": "Warthin tumor", "MONDO:0006815": "jejunal cancer", "MONDO:0005870": "necatoriasis", "MONDO:0004032": "ovarian seromucinous carcinoma", "MONDO:0021123": "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone", "MONDO:0006426": "spinal cord primitive neuroectodermal tumor", "MONDO:0023140": "fenton Wilkinson Toselano syndrome", "MONDO:0001829": "lumbosacral plexus lesion", "MONDO:0004892": "refractive error", "MONDO:0021746": "pyelocystitis", "MONDO:0002904": "echolalia (disease)", "MONDO:0022682": "cennamo gangemi syndrome", "MONDO:0024981": "rodent disease", "MONDO:0043131": "michels caskey syndrome", "MONDO:0022770": "circumscribed cutaneous aplasia of the vertex", "MONDO:0006855": "mesenteric vascular occlusion", "MONDO:0002846": "granulomatous gastritis", "MONDO:0001272": "functional diarrhea", "MONDO:0021049": "vulvar neoplasm", "MONDO:0000426": "autosomal dominant disease", "MONDO:0006006": "verrucous carcinoma", "MONDO:0001933": "endocrine pancreas disease", "MONDO:0006784": "hemorrhagic disease of newborn", "MONDO:0004302": "chief cell adenoma", "MONDO:0022618": "burning mouth syndrome type 3", "MONDO:0006820": "kidney cortex necrosis", "MONDO:0020574": "central nervous system nongerminomatous germ cell tumor", "MONDO:0004341": "colloid carcinoma of the pancreas", "MONDO:0001286": "exotropia", "MONDO:0001637": "cicatricial entropion", "MONDO:0006315": "neoplastic medium-sized B-lymphocyte with basophilic cytoplasm", "MONDO:0022876": "Cortes Lacassie syndrome", "MONDO:0004416": "plasmacytoid variant infiltrating bladder urothelial carcinoma", "MONDO:0002481": "ovarian neuroendocrine neoplasm", "MONDO:0002415": "bone carcinoma", "MONDO:0037250": "childhood testicular neoplasm", "MONDO:0004771": "Fuchs' heterochromic uveitis", "MONDO:0045039": "systemic basidiobolomycosis", "MONDO:0002346": "malignant histiocytic disease", "MONDO:0002766": "larynx verrucous carcinoma", "MONDO:0000639": "cartilage cancer", "MONDO:0020815": "dentigerous cyst", "MONDO:0001887": "Allen-Masters syndrome", "MONDO:0000721": "xanthinuria", "MONDO:0001954": "thrombophlebitis migrans", "MONDO:0021449": "benign neoplasm of stomach", "MONDO:0044745": "nervous system injury", "MONDO:0001806": "vaginal squamous tumor", "MONDO:0004378": "pediatric cerebral ependymoblastoma", "MONDO:0023595": "congenital myotonic dystrophy", "MONDO:0023679": "hematohidrosis", "MONDO:0022402": "agyria-pachygyria type 1", "MONDO:0006153": "colon juvenile polyp", "MONDO:0000563": "GRID2-related autosomal dominant spinocerebellar ataxia", "MONDO:0002582": "subacute leukemia", "MONDO:0021260": "sensory ganglionopathy", "MONDO:0003313": "endometrioid stromal sarcoma of the vagina", "MONDO:0024660": "tubular adenoma", "MONDO:0021455": "benign neoplasm of neck", "MONDO:0037255": "ovarian serous tumor", "MONDO:0028743": "dysostosis with brachydactyly with extraskeletal manifestations", "MONDO:0002945": "micronodular basal cell carcinoma", "MONDO:0022884": "craniofacial dysostosis arthrogryposis progeroid appearence", "MONDO:0009466": "neuronal intestinal pseudoobstruction", "MONDO:0006921": "Actinomycetales infectious disease", "MONDO:0023054": "klumpke's paralysis", "MONDO:0027767": "partial lipodystrophy", "MONDO:0003050": "lung large cell carcinoma", "MONDO:0024614": "neurotic depression", "MONDO:0006932": "pulmonary edema", "MONDO:0005478": "torsades de pointes", "MONDO:0006488": "vaginal carcinosarcoma", "MONDO:0004577": "corneal ulcer", "MONDO:0006407": "sarcomatoid mesothelioma", "MONDO:0000819": "anencephaly", "MONDO:0005426": "MRI defined brain infarct", "MONDO:0003486": "basaloid squamous cell carcinoma", "MONDO:0005903": "pericardial tuberculosis", "MONDO:0001789": "neurofibroma of spinal cord", "MONDO:0020634": "grade III meningioma", "MONDO:0043905": "pneumonitis", "MONDO:0006078": "AIDS-related primary central nervous system lymphoma", "MONDO:0003706": "adult brainstem astrocytoma", "MONDO:0005752": "epidural abscess", "MONDO:0024658": "extrahepatic bile duct sarcoma", "MONDO:0001371": "protein-energy malnutrition", "MONDO:0001745": "subserous uterine fibroid", "MONDO:0004790": "fatty liver disease", "MONDO:0022776": "cleft lip and/or palate with mucous cysts of lower", "MONDO:0001907": "adult dermatomyositis", "MONDO:0005019": "diffuse scleroderma", "MONDO:0005716": "contagious pleuropneumonia", "MONDO:0003602": "intracranial liposarcoma", "MONDO:0004895": "accommodative esotropia", "MONDO:0005244": "peripheral neuropathy", "MONDO:0003376": "mediastinum leiomyosarcoma", "MONDO:0008996": "Joubert syndrome with hepatic defect", "MONDO:0004489": "fallopian tube gestational choriocarcinoma", "MONDO:0005089": "sarcoma", "MONDO:0001635": "bladder squamous papilloma", "MONDO:0003235": "optic nerve glioma", "MONDO:0022904": "cryofibrinogenemia", "MONDO:0003968": "asynchronous multifocal osteogenic sarcoma", "MONDO:0000685": "visual agnosia (disease)", "MONDO:0000151": "symphalangism", "MONDO:0002356": "pancreas disease", "MONDO:0003665": "cervical endometrioid adenocarcinoma", "MONDO:0004751": "disease of orbital part of eye adnexa", "MONDO:0004727": "vestibule of mouth cancer", "MONDO:0002270": "viral gastritis", "MONDO:0002452": "prostate leiomyoma", "MONDO:0001230": "acute orbital inflammation", "MONDO:0004352": "adult brain ependymoma", "MONDO:0001373": "urinary bladder posterior wall cancer", "MONDO:0006147": "chronic eosinophilic leukemia, not otherwise specified", "MONDO:0002206": "sweat gland cancer", "MONDO:0014769": "inherited oocyte maturation defect", "MONDO:0001555": "neonatal thyrotoxicosis", "MONDO:0002337": "intra-abdominal hemangioma", "MONDO:0100006": "secondary mast cell activation syndrome", "MONDO:0044209": "disorder of lectin complement activation pathway", "MONDO:0003159": "vascular hemostatic disease", "MONDO:0004597": "pulmonary embolism and infarction", "MONDO:0022965": "desmoplastic infantile ganglioglioma", "MONDO:0005892": "otitis media with effusion", "MONDO:0004990": "breast tumor luminal A or B", "MONDO:0004874": "ganglion or cyst of synovium/tendon/bursa", "MONDO:0005031": "fibromatosis", "MONDO:0001482": "testicular leukemia", "MONDO:0005328": "eye disease", "MONDO:0022648": "cardiomyopathy and deafness due to tRNA lysine gene mutation", "MONDO:0003938": "bladder colonic type adenocarcinoma", "MONDO:0001460": "dyshormonogenic goiter", "MONDO:0002987": "spongiotic dermatitis", "MONDO:0045043": "disease of uterine broad ligament", "MONDO:0002186": "acute maxillary sinusitis", "MONDO:0003389": "epithelial-myoepithelial carcinoma", "MONDO:0006188": "EBV-positive T-cell lymphoproliferative disorder of childhood", "MONDO:0021499": "benign neoplasm of cerebellum", "MONDO:0003562": "rete testis neoplasm", "MONDO:0003115": "subglottic hemangioma", "MONDO:0005964": "sphenoid sinusitis", "MONDO:0004191": "nephrogenic adenoma", "MONDO:0006596": "photoallergic dermatitis", "MONDO:0004370": "sphenocavernous meningioma", "MONDO:0006713": "corneal neovascularization", "MONDO:0005051": "invasive lobular breast carcinoma", "MONDO:0014824": "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome", "MONDO:0001491": "cough variant asthma", "MONDO:0001421": "frontal lobe neoplasm", "MONDO:0003950": "nipple carcinoma", "MONDO:0021167": "myositis", "MONDO:0019425": "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome", "MONDO:0021761": "acral dysostosis dyserythropoiesis syndrome", "MONDO:0006909": "pituitary dwarfism", "MONDO:0005464": "rhegmatogenous retinal detachment", "MONDO:0044921": "atypical lymphoproliferative disorder", "MONDO:0002936": "scrotum basal cell carcinoma", "MONDO:0020327": "classic Hodgkin lymphoma, nodular sclerosis type", "MONDO:0006656": "aortitis", "MONDO:0001423": "drug-induced mental disorder", "MONDO:0004322": "non-gestational ovarian choriocarcinoma", "MONDO:0027772": "lung colloid adenocarcinoma", "MONDO:0005392": "scoliosis", "MONDO:0005221": "renal pelvis urothelial carcinoma", "MONDO:0022782": "cleft lower lip cleft lateral canthi chorioretinal", "MONDO:0005484": "colorectal adenoma", "MONDO:0004929": "constant exophthalmos", "MONDO:0003897": "breast epithelioid hemangioma", "MONDO:0004096": "spinal cord dermoid cyst", "MONDO:0004288": "scirrhous breast carcinoma", "MONDO:0005613": "mesonephric adenocarcinoma", "MONDO:0003759": "childhood ovarian yolk sac tumor", "MONDO:0021118": "intestinal neoplasm", "MONDO:0003651": "macrotrabecular hepatoblastoma", "MONDO:0019072": "intrahepatic cholestasis", "MONDO:0005452": "bulimia nervosa", "MONDO:0000275": "monogenic disease", "MONDO:0042233": "disseminated candidiasis", "MONDO:0022430": "persistent fetal circulation syndrome", "MONDO:0021036": "keratosis pilaris", "MONDO:0006944": "renal aminoaciduria", "MONDO:0024325": "cutaneous glomangiomyoma", "MONDO:0004239": "cervical keratinizing squamous cell carcinoma", "MONDO:0022552": "Bazopoulou Kyrkanidou syndrome", "MONDO:0000888": "gastrointestinal mucositis", "MONDO:0044983": "benign lipomatous neoplasm", "MONDO:0003668": "extragonadal seminoma", "MONDO:0021915": "arakawa syndrome 2", "MONDO:0004554": "childhood kidney angiomyolipoma", "MONDO:0023083": "epimetaphyseal dysplasia cataract", "MONDO:0015561": "aleukemic mast cell leukemia", "MONDO:0001426": "mediastinum neurofibroma", "MONDO:0024432": "nerve plexus disease", "MONDO:0008852": "congenital central hypoventilation syndrome", "MONDO:0005762": "Filoviridae infectious disease", "MONDO:0005524": "sweat gland carcinoma", "MONDO:0004553": "extrinsic allergic alveolitis", "MONDO:0001381": "bladder lymphoma", "MONDO:0001407": "tracheal cancer", "MONDO:0023157": "fibular hypoplasia scapulo pelvic dysplasia absent", "MONDO:0100030": "adolescent/adult-onset epilepsy syndrome", "MONDO:0003525": "pancreatic gastrin-producing neuroendocrine tumor", "MONDO:0000551": "retroperitoneal neuroblastoma", "MONDO:0011623": "spinocerebellar ataxia, autosomal recessive 1", "MONDO:0004545": "adult malignant schwannoma", "MONDO:0012332": "short stature-delayed bone age due to thyroid hormone metabolism deficiency", "MONDO:0003499": "sarcomatoid squamous cell skin carcinoma", "MONDO:0020860": "faucial diphtheria", "MONDO:0005568": "cholesterol embolism", "MONDO:0016963": "partial duplication of the long arm of chromosome 13", "MONDO:0024663": "primary skin meningioma", "MONDO:0002799": "nodular medulloblastoma", "MONDO:0043707": "mediastinal disease", "MONDO:0000610": "marantic endocarditis", "MONDO:0006824": "Krebs 2 carcinoma", "MONDO:0004232": "large cell keratinizing variant squamous cell breast carcinoma", "MONDO:0005341": "skin basal cell carcinoma", "MONDO:0009834": "pancreatic insufficiency, combined exocrine", "MONDO:0037737": "peritoneal solitary fibrous tumor", "MONDO:0003493": "thymus squamous cell carcinoma", "MONDO:0002131": "jaw cancer", "MONDO:0004019": "oxyphilic endometrial endometrioid adenocarcinoma", "MONDO:0000024": "exostoses, multiple", "MONDO:0004922": "developmental coordination disorder", "MONDO:0003776": "renal pelvis inverted papilloma", "MONDO:0020599": "acquired coagulation factor deficiency", "MONDO:0004869": "pelvic varices", "MONDO:0021288": "carcinoma in situ of hypopharynx", "MONDO:0004560": "follicular infundibulum tumor", "MONDO:0003905": "ovarian yolk sac tumor, glandular pattern", "MONDO:0006250": "ileal neuroendocrine tumor G1", "MONDO:0004446": "olfactory groove meningioma", "MONDO:0021078": "glandular papilloma", "MONDO:0003288": "bizarre leiomyoma", "MONDO:0004621": "upper lip cancer", "MONDO:0006875": "ocular hypertension", "MONDO:0100027": "febrile seizures plus, genetic epilepsy with febrile seizures plus", "MONDO:0002509": "non-specific granulomatous orchitis", "MONDO:0021458": "benign neoplasm of penis", "MONDO:0005371": "mood disorder", "MONDO:0009256": "galactorrhea (disease)", "MONDO:0003459": "cervical adenofibroma", "MONDO:0001109": "petrositis", "MONDO:0000866": "myoglobinuria", "MONDO:0024571": "AIDS-related disorder", "MONDO:0006123": "cardiac rhabdomyoma (disease)", "MONDO:0100000": "MED12-related intellectual disability syndrome", "MONDO:0011324": "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss", "MONDO:0001856": "splenic artery aneurysm", "MONDO:0002962": "epidermolytic acanthoma", "MONDO:0022930": "dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia", "MONDO:0006701": "chromophobe adenoma", "MONDO:0024597": "CD3epsilon deficiency", "MONDO:0004487": "endometrial type cervical adenomyoma", "MONDO:0003142": "intracranial primitive neuroectodermal tumor", "MONDO:0004490": "gestational uterine corpus choriocarcinoma", "MONDO:0005030": "fetal growth restriction", "MONDO:0003225": "bone marrow disease", "MONDO:0000898": "malignant hemangioma", "MONDO:0006350": "papillary transitional cell carcinoma", "MONDO:0002232": "nasal cavity disease", "MONDO:0004156": "pancreatic mucinous cystadenocarcinoma", "MONDO:0004650": "malignant carotid body paraganglioma", "MONDO:0004789": "cholangitis", "MONDO:0004859": "hydrops of gallbladder", "MONDO:0021879": "small cell variant anaplastic large cell lymphoma", "MONDO:0004659": "eye carcinoma in situ", "MONDO:0006358": "parotid gland squamous cell carcinoma", "MONDO:0028742": "dysostosis with brachydactyly without extraskeletal manifestations", "MONDO:0000960": "diabetic peripheral angiopathy", "MONDO:0003341": "subungual glomus tumor", "MONDO:0000225": "human monocytic ehrlichiosis", "MONDO:0003591": "kidney liposarcoma", "MONDO:0020686": "acute adenoiditis", "MONDO:0021079": "childhood neoplasm", "MONDO:0000939": "intracranial abscess", "MONDO:0023097": "exostoses anetodermia brachydactyly type E", "MONDO:0000831": "thrombotic disease", "MONDO:0020709": "Majocchi granuloma", "MONDO:0002537": "inverted papilloma", "MONDO:0003362": "cutaneous leiomyosarcoma (disease)", "MONDO:0002170": "chronic eustachian salpingitis", "MONDO:0001803": "myringitis bullosa hemorrhagica", "MONDO:0004550": "malignant cornea melanoma", "MONDO:0004835": "necrotizing fasciitis", "MONDO:0020720": "X-linked hypophosphatemic rickets (recessive or dominant)", "MONDO:0024343": "pityriasis simplex", "MONDO:0002205": "vulvar melanoma (disease)", "MONDO:0016569": "rare lymphatic malformation", "MONDO:0001274": "anal spasm", "MONDO:0004427": "supraglottis neoplasm", "MONDO:0002911": "brain stem glioma", "MONDO:0003008": "hereditary renal cell carcinoma", "MONDO:0001758": "paranasal sinus sarcoma", "MONDO:0002260": "hidradenitis", "MONDO:0004041": "urothelial papilloma", "MONDO:0000986": "pleurisy", "MONDO:0018251": "glycogen storage disease due to phosphorylase kinase deficiency", "MONDO:0004398": "mediastinal schwannoma", "MONDO:0005651": "arenavirus hemorrhagic fever", "MONDO:0022470": "aortic dissection lentiginosis", "MONDO:0004319": "hypercalcemic type ovarian small cell carcinoma", "MONDO:0021321": "malignant tumor of extrahepatic bile duct", "MONDO:0022712": "oculo digital syndrome", "MONDO:0002419": "transient tic disorder", "MONDO:0002376": "spleen angiosarcoma", "MONDO:0002507": "gingival overgrowth", "MONDO:0002214": "brain germinoma", "MONDO:0003055": "secretory meningioma", "MONDO:0004281": "vulvar eccrine porocarcinoma", "MONDO:0002314": "chronic conjunctivitis", "MONDO:0023093": "exertional headache", "MONDO:0042433": "mycotic endocarditis", "MONDO:0000800": "brown shrimp allergy", "MONDO:0018619": "hyperinsulinemic hypoglycaemia", "MONDO:0006915": "polyradiculoneuropathy", "MONDO:0022611": "Brunoni syndrome", "MONDO:0004259": "endocervical carcinoma", "MONDO:0043683": "Leriche syndrome", "MONDO:0001762": "dentine erosion", "MONDO:0001045": "intestinal atresia (disease)", "MONDO:0022926": "daentl towsend Siegel syndrome", "MONDO:0002035": "colon lymphoma", "MONDO:0004919": "infected hydrocele", "MONDO:0005176": "benign insulitis", "MONDO:0023196": "frontonasal malformation cloacal exstrophy", "MONDO:0014109": "NGLY1-deficiency", "MONDO:0023232": "giant cell myocarditis", "MONDO:0005757": "eumycotic mycetoma", "MONDO:0005551": "eye allergy", "MONDO:0001327": "pelvic muscle wasting", "MONDO:0002821": "trabecular follicular adenocarcinoma", "MONDO:0020959": "Mansonella ozzardi infection", "MONDO:0001591": "senile entropion", "MONDO:0006352": "paranasal sinus adenoid cystic carcinoma", "MONDO:0006465": "thyroid gland oncocytic follicular carcinoma", "MONDO:0003314": "endometrioid stromal and related neoplasms of the vagina", "MONDO:0004093": "esophageal basaloid carcinoma", "MONDO:0043199": "short limb dwarf lethal colavita kozlowski type", "MONDO:0056821": "bronchiolitis obliterans organizing pneumonia", "MONDO:0005557": "calcium metabolic disease", "MONDO:0043129": "merlob grunebaum reisner syndrome", "MONDO:0004652": "bacterial pneumonia", "MONDO:0000573": "recombinase activating gene 2 deficiency", "MONDO:0004531": "sclerosing adenosis of breast", "MONDO:0004860": "vitreous disease", "MONDO:0006044": "nephrosclerosis", "MONDO:0003136": "anti-basement membrane glomerulonephritis", "MONDO:0006953": "Rh isoimmunization", "MONDO:0004432": "mature pericardial teratoma", "MONDO:0004733": "pyriform sinus cancer", "MONDO:0000763": "epithelial and subepithelial corneal dystrophy", "MONDO:0023124": "familial pulmonary arterial hypertension leucopenia and atrial septal defect", "MONDO:0002475": "lacrimal gland adenocarcinoma", "MONDO:0024982": "salmonella infections, animal", "MONDO:0001664": "submucous uterine fibroid", "MONDO:0003350": "granular cell leiomyosarcoma", "MONDO:0005544": "hippocampal sclerosis of aging", "MONDO:0000858": "neuronal intestinal dysplasia", "MONDO:0022578": "childhood bladder carcinoma", "MONDO:0002329": "testicular disease", "MONDO:0005073": "melanocytic nevus", "MONDO:0006300": "medullomyoblastoma with myogenic differentiation", "MONDO:0020592": "disease of pharynx", "MONDO:0021320": "malignant tumor of floor of mouth", "MONDO:0002576": "embryonal extrahepatic bile duct rhabdomyosarcoma", "MONDO:0002632": "metachronous osteosarcoma of the bone", "MONDO:0021638": "low grade astrocytic tumor", "MONDO:0008656": "benign paroxysmal positional nystagmus", "MONDO:0001844": "uterine corpus myxoid leiomyoma", "MONDO:0000232": "Flinders island spotted fever", "MONDO:0006518": "sporadic Creutzfeld Jacob disease", "MONDO:0003636": "vulvar sebaceous carcinoma", "MONDO:0005357": "Creutzfeldt Jacob disease", "MONDO:0007928": "Fechtner syndrome", "MONDO:0100074": "norovirus infectious disease", "MONDO:0003730": "aleukemic leukemia", "MONDO:0040728": "Campylobacter fetus infectious disease", "MONDO:0024905": "bird disease", "MONDO:0024634": "large intestine disease", "MONDO:0002167": "rectum malignant melanoma", "MONDO:0006485": "uterine carcinosarcoma", "MONDO:0002889": "orbital cancer", "MONDO:0010957": "agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations", "MONDO:0002493": "prostatic acinar adenocarcinoma", "MONDO:0004054": "acute canaliculitis", "MONDO:0001967": "gonadal dysgenesis", "MONDO:0016992": "peeling skin syndrome type B", "MONDO:0005093": "skin disease", "MONDO:0000480": "anismus", "MONDO:0044144": "panic disorder with agoraphobia", "MONDO:0001695": "senile ectropion", "MONDO:0001369": "chronic laryngitis", "MONDO:0024622": "thyroid gland adenocarcinoma", "MONDO:0022428": "aluminosis", "MONDO:0037870": "valine metabolism disease", "MONDO:0021303": "adenoma of small intestine", "MONDO:0003674": "subendocardial myocardial infarction", "MONDO:0005391": "restless legs syndrome", "MONDO:0006886": "thyroid gland papillary and follicular carcinoma", "MONDO:0003357": "lung leiomyosarcoma", "MONDO:0003510": "malignant testicular germ cell tumor", "MONDO:0060712": "developmental delay, intellectual disability, obesity, and dysmorphic features", "MONDO:0000583": "immunoglobulin beta deficiency", "MONDO:0004905": "intestinal disaccharidase deficiency", "MONDO:0006683": "brachial plexus neuropathy", "MONDO:0021538": "verrucous carcinoma of oral cavity", "MONDO:0006490": "vaginal squamous cell carcinoma", "MONDO:0037939": "porphyria", "MONDO:0005383": "panic disorder", "MONDO:0011865": "COL4A1-related familial vascular leukoencephalopathy", "MONDO:0000327": "Buruli ulcer disease", "MONDO:0004192": "urethra cancer", "MONDO:0001284": "endometriosis of intestine", "MONDO:0000611": "pre-malignant neoplasm", "MONDO:0005363": "focal segmental glomerulosclerosis", "MONDO:0013343": "C1Q deficiency", "MONDO:0004987": "urinary bladder neoplasm", "MONDO:0025293": "poult enteritis mortality syndrome", "MONDO:0003925": "ethmoid sinus inverted papilloma", "MONDO:0001906": "posterior dislocation of lens", "MONDO:0100029": "antibody mediated epilepsy", "MONDO:0004268": "subareolar duct papillomatosis", "MONDO:0000226": "mineral metabolism disease", "MONDO:0001363": "blind hypertensive eye", "MONDO:0003666": "fallopian tube endometrioid adenocarcinoma", "MONDO:0006984": "subdural empyema", "MONDO:0004984": "basal-like breast carcinoma", "MONDO:0023154": "fibromatosis multiple non ossifying", "MONDO:0002277": "arteriosclerosis disorder", "MONDO:0004762": "Taylor syndrome", "MONDO:0002660": "blepharochalasis (disease)", "MONDO:0043320": "piriformis syndrome", "MONDO:0006788": "hydrophthalmos", "MONDO:0006758": "female genital tuberculosis", "MONDO:0005010": "coronary artery disease", "MONDO:0004364": "choroid necrotic melanoma", "MONDO:0036511": "childhood malignant kidney neoplasm", "MONDO:0004738": "histidine metabolism disease", "MONDO:0001455": "retinal lattice degeneration", "MONDO:0000508": "syndromic intellectual disability", "MONDO:0001831": "irregular astigmatism", "MONDO:0000190": "ventricular fibrillation (disease)", "MONDO:0023310": "hemiplegic migraine", "MONDO:0003477": "brain stem ependymoma", "MONDO:0005624": "atrophic thyroiditis", "MONDO:0001805": "female breast central part cancer", "MONDO:0002031": "cecal disease", "MONDO:0002172": "otosalpingitis", "MONDO:0023165": "florid cystic endosalpingiosis of the uterus", "MONDO:0005310": "atrial flutter (disease)", "MONDO:0005173": "actinic keratosis (disease)", "MONDO:0005634": "acute hemorrhagic conjunctivitis", "MONDO:0025138": "vesicular exanthema of swine", "MONDO:0002702": "ovarian cystadenocarcinoma", "MONDO:0009116": "lactose intolerance (disease)", "MONDO:0004118": "cystitis cystica", "MONDO:0003841": "heart lipoma", "MONDO:0003032": "superior vena cava angiosarcoma", "MONDO:0006344": "ovarian yolk sac tumor", "MONDO:0001849": "chronic orbital inflammation", "MONDO:0002602": "central nervous system disease", "MONDO:0005110": "idiopathic cardiomyopathy", "MONDO:0005844": "chalazion", "MONDO:0006793": "hyperpituitarism", "MONDO:0003927": "posterior uveal melanoma", "MONDO:0004673": "lower lip cancer", "MONDO:0003727": "animal phobia", "MONDO:0022453": "angiomyomatous hamartoma", "MONDO:0003187": "Bartholin gland adenoid cystic carcinoma", "MONDO:0000795": "penicillin allergy", "MONDO:0021480": "benign neoplasm of soft palate", "MONDO:0000992": "heart conduction disease", "MONDO:0001716": "corneal argyrosis", "MONDO:0000231": "Far eastern spotted fever", "MONDO:0006303": "middle ear squamous cell carcinoma", "MONDO:0001774": "posterior scleritis", "MONDO:0002410": "pyeloureteritis cystica", "MONDO:0043277": "mosaic trisomy 6", "MONDO:0005596": "cystadenocarcinoma", "MONDO:0022602": "brachydactyly small stature face anomalies", "MONDO:0025481": "zoonoses", "MONDO:0021777": "acute rheumatic heart disease", "MONDO:0002794": "adult medulloblastoma", "MONDO:0044347": "erythrocyte disease", "MONDO:0042976": "vitamin B deficiency", "MONDO:0002083": "Richter syndrome", "MONDO:0043723": "Monteggia's fracture", "MONDO:0005145": "sporadic amyotrophic lateral sclerosis", "MONDO:0006150": "colon Burkitt lymphoma", "MONDO:0005582": "binge eating disorder", "MONDO:0004133": "pituitary gland mixed eosinophil-basophil adenoma", "MONDO:0005151": "endocrine system disease", "MONDO:0100023": "self-limited familial and non-familial neonatal seizures", "MONDO:0003516": "adult teratoma", "MONDO:0002480": "endometrioid tumor", "MONDO:0006368": "phosphaturic mesenchymal tumor", "MONDO:0000494": "renal fibrosis", "MONDO:0002188": "vulvar nodular hidradenoma", "MONDO:0021456": "benign neoplasm of sternum", "MONDO:0003713": "angiokeratoma circumscriptum", "MONDO:0001642": "hordeolum externum", "MONDO:0004346": "signet ring cell intrahepatic cholangiocarcinoma", "MONDO:0002002": "postsurgical hypothyroidism", "MONDO:0000273": "Kunjin virus infectous disease", "MONDO:0006738": "eccrine acrospiroma", "MONDO:0036688": "rhabdomyoma", "MONDO:0000705": "Clostridium difficile colitis", "MONDO:0001500": "gender identity disorder", "MONDO:0004361": "adult spinal cord ependymoma", "MONDO:0000709": "Crohn ileitis", "MONDO:0001786": "uterine inflammatory disease", "MONDO:0025483": "mammary neoplasms, animal", "MONDO:0005801": "human T-lymphotropic virus 1 infectious disease", "MONDO:0005026": "endometrioid adenocarcinoma", "MONDO:0006795": "hypersplenism (disease)", "MONDO:0023137": "feigenbaum Bergeron syndrome", "MONDO:0020950": "viral eye infection", "MONDO:0020665": "high grade malignant neoplasm", "MONDO:0013346": "brain calcification, Rajab type", "MONDO:0006966": "secondary Parkinson disease", "MONDO:0005945": "rhinoscleroma", "MONDO:0041261": "disorder of acid-base balance", "MONDO:0004431": "hemarthrosis", "MONDO:0002253": "spondylosis", "MONDO:0002359": "periosteal chondroma", "MONDO:0005720": "cowpox", "MONDO:0004897": "hypotropia", "MONDO:0020818": "secondary dentine", "MONDO:0006818": "keratoconjunctivitis sicca", "MONDO:0024857": "immature extragonadal teratoma", "MONDO:0023017": "duplication of the thumb unilateral biphalangeal", "MONDO:0004862": "vitreous abscess", "MONDO:0021276": "papilloma of buccal mucosa", "MONDO:0024337": "urothelial neoplasm", "MONDO:0022463": "anophthalmia megalocornea cardiopathy skeletal anomalies", "MONDO:0005545": "staphylococcus aureus infection", "MONDO:0024813": "pulmonary sulcus neoplasm", "MONDO:0006046": "ovarian serous cystadenocarcinoma", "MONDO:0100069": "hearing impairment and infertile male syndrome", "MONDO:0008956": "congenital neuronal ceroid lipofuscinosis", "MONDO:0005256": "moderate heart failure", "MONDO:0003558": "adenosquamous prostate carcinoma", "MONDO:0004730": "speech disorder", "MONDO:0003268": "mixed glioma", "MONDO:0020695": "hypotonic cerebral palsy", "MONDO:0006172": "conjunctival nevus", "MONDO:0003117": "somatoform disorder", "MONDO:0004517": "ureter tuberculosis", "MONDO:0023628": "levator syndrome", "MONDO:0001301": "rumination disorder", "MONDO:0006013": "visna disease", "MONDO:0004079": "lung mucous gland adenoma", "MONDO:0006317": "neurothekeoma", "MONDO:0044348": "hemoglobinopathy", "MONDO:0000971": "chest wall lipoma", "MONDO:0003241": "central nervous system hemangioma", "MONDO:0003673": "apical myocardial infarction", "MONDO:0002254": "syndromic disease", "MONDO:0006440": "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease", "MONDO:0000262": "otomycosis", "MONDO:0002401": "malignant tenosynovial giant cell tumor", "MONDO:0005429": "prion disease", "MONDO:0022512": "atrial septal defect coronary sinus", "MONDO:0003301": "dartoic leiomyoma", "MONDO:0022495": "arthritis short stature deafness", "MONDO:0025376": "African horse sickness", "MONDO:0005507": "gingival cancer", "MONDO:0004368": "sphenoorbital meningioma", "MONDO:0002266": "malt worker's lung", "MONDO:0021400": "polyp of colon", "MONDO:0001547": "atrophic nonflaccid tympanic membrane", "MONDO:0003471": "Pediculus humanus capitis infestation", "MONDO:0006196": "endometrial serous adenocarcinoma", "MONDO:0004865": "blue drum syndrome", "MONDO:0021657": "ovarian sex cord-stromal tumor", "MONDO:0002334": "hematopoietic and lymphoid system neoplasm", "MONDO:0002772": "intraventricular meningioma", "MONDO:0025489": "enzootic bovine leukosis", "MONDO:0042981": "aortic valve stenosis", "MONDO:0022826": "congenital cystic eye multiple ocular and intracranial anomalies", "MONDO:0021431": "squamous cell carcinoma of buccal mucosa", "MONDO:0020664": "spindle cell neoplasm", "MONDO:0002884": "nail disease", "MONDO:0004656": "rubella", "MONDO:0021381": "neoplasm of pericardium", "MONDO:0004392": "intracranial extraskeletal myxoid chondrosarcoma", "MONDO:0006126": "cecum neuroendocrine tumor G1", "MONDO:0000238": "pestis minor", "MONDO:0004779": "epididymitis (disease)", "MONDO:0021496": "benign neoplasm of lip", "MONDO:0000926": "eye accommodation disease", "MONDO:0005578": "arthritis", "MONDO:0003615": "nerve compression syndrome", "MONDO:0004165": "selective IgD deficiency disease", "MONDO:0022843": "congenital mumps", "MONDO:0005111": "Epstein-Barr virus infection", "MONDO:0020655": "juvenile ankylosing spondylitis", "MONDO:0010918": "EIG", "MONDO:0022697": "athetoid cerebral palsy", "MONDO:0016021": "early infantile epileptic encephalopathy", "MONDO:0022496": "arthrogryposis IUGR thoracic dystrophy", "MONDO:0009651": "pseudo-Hurler polydystrophy", "MONDO:0003371": "breast leiomyosarcoma", "MONDO:0012632": "Alzheimer disease 15", "MONDO:0004938": "substance dependence", "MONDO:0044098": "ovarian ectopic pregnancy", "MONDO:0042982": "GATA2 deficiency with susceptibility to MDS/AML", "MONDO:0003663": "uterine ligament endometrioid adenocarcinoma", "MONDO:0019217": "inborn disorder of urea cycle metabolism and ammonia detoxification", "MONDO:0003845": "corpus callosum lipoma", "MONDO:0021424": "hemangiopericytoma of skin", "MONDO:0001361": "spontaneous ocular nystagmus", "MONDO:0012234": "LFS3", "MONDO:0002685": "childhood choroid plexus carcinoma", "MONDO:0001179": "pinguecula", "MONDO:0002229": "ovarian epithelial tumor", "MONDO:0002991": "adenocarcinofibroma", "MONDO:0004664": "helminthiasis", "MONDO:0021962": "baetz-greenwalt syndrome", "MONDO:0006812": "intracranial vasospasm", "MONDO:0002598": "germinoma (disease)", "MONDO:0045017": "cholesterol biosynthetic process disease", "MONDO:0001667": "streptobacillus infectious disease", "MONDO:0002113": "peritoneal carcinoma", "MONDO:0004293": "supraglottis squamous cell carcinoma", "MONDO:0000409": "chorioamnionitis", "MONDO:0000775": "drug allergy", "MONDO:0000192": "polyglucosan body myopathy", "MONDO:0006222": "gastric choriocarcinoma", "MONDO:0003908": "clivus meningioma", "MONDO:0000865": "congenital fiber-type disproportion", "MONDO:0024246": "syringofibroadenoma", "MONDO:0022901": "Crohn disease of the esophagus", "MONDO:0002008": "labyrinthitis", "MONDO:0023134": "febrile ulceronecrotic mucha-habermann disease", "MONDO:0100012": "paratenonitis", "MONDO:0001075": "steatorrhea (disease)", "MONDO:0003458": "uterine corpus adenofibroma", "MONDO:0016920": "partial deletion of the long arm of chromosome 22", "MONDO:0001171": "acute salpingo-oophoritis", "MONDO:0002155": "cholecystitis", "MONDO:0001041": "dentin caries", "MONDO:0002845": "necrotizing gastritis", "MONDO:0000249": "secretory diarrhea", "MONDO:0022799": "cold urticaria", "MONDO:0002764": "urethra squamous cell carcinoma", "MONDO:0022652": "cardiomyopathy dilated with conduction defect type 2", "MONDO:0001644": "acute proliferative glomerulonephritis", "MONDO:0004035": "glomangiomatosis", "MONDO:0003850": "clivus chondroid chordoma", "MONDO:0060774": "vaginal fibroepithelial polyp", "MONDO:0004697": "esophageal leukoplakia (disease)", "MONDO:0000653": "integumentary system cancer", "MONDO:0002950": "skin clear cell basal cell carcinoma", "MONDO:0021541": "hemangioma of retina", "MONDO:0004375": "end stage renal failure", "MONDO:0003331": "ovarian monodermal teratoma", "MONDO:0001061": "pylorus cancer", "MONDO:0005891": "ostertagiasis", "MONDO:0003368": "prostate leiomyosarcoma", "MONDO:0002615": "xanthomatosis (disease)", "MONDO:0004209": "cerebral primitive neuroectodermal tumor", "MONDO:0022804": "colobomata unilobar lung heart defect", "MONDO:0002503": "adult astrocytic tumour", "MONDO:0001072": "mild pre-eclampsia", "MONDO:0017132": "hereditary ATTR amyloidosis", "MONDO:0023099": "FRAXD syndrome", "MONDO:0100068": "SLC10A7-CDG", "MONDO:0004587": "hereditary night blindness", "MONDO:0021197": "disease by cellular component affected", "MONDO:0002769": "leukorrhea", "MONDO:0044971": "disease of macromolecular complex", "MONDO:0005741": "egg allergy", "MONDO:0003614": "intravenous leiomyomatosis", "MONDO:0043197": "ruvalcaba churesigaew myhre syndrome", "MONDO:0000638": "benign glioma", "MONDO:0020711": "selective peripheral resistance to thyroid hormone", "MONDO:0004255": "Wolffian adnexal tumor", "MONDO:0005432": "alcohol and nicotine codependence", "MONDO:0002667": "gallbladder signet ring cell adenocarcinoma", "MONDO:0004348": "retinal telangiectasia", "MONDO:0003990": "malignant breast myoepithelioma", "MONDO:0024280": "polyarticular arthritis", "MONDO:0005867": "Mycoplasma pneumoniae pneumonia", "MONDO:0001672": "bronchus cancer", "MONDO:0014812": "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration", "MONDO:0000951": "thymus lymphoma", "MONDO:0007291": "familial cerebral cavernous malformation", "MONDO:0006166": "columnar cell hyperplasia of the breast", "MONDO:0004316": "acantholytic squamous cell skin carcinoma", "MONDO:0022832": "congenital heart disease radio ulnar synostosis mental retardation", "MONDO:0002087": "peritoneum cancer", "MONDO:0022022": "bowenoid papulosis", "MONDO:0000188": "GLUT1 deficiency syndrome", "MONDO:0004409": "nipple duct carcinoma", "MONDO:0004867": "upper respiratory tract disease", "MONDO:0002979": "papillary squamous carcinoma", "MONDO:0004433": "papillary carcinoma of the penis", "MONDO:0004607": "vallecula cancer", "MONDO:0003287": "central nervous system leiomyoma", "MONDO:0006955": "rheumatic heart disease", "MONDO:0004349": "retina lymphoma", "MONDO:0022815": "congenital absence of the sternocleidomastoid muscle", "MONDO:0021627": "eyelid capillary hemangioma", "MONDO:0020330": "classic Hodgkin lymphoma, lymphocyte-depleted type", "MONDO:0002153": "telogen effluvium", "MONDO:0037251": "congestive splenomegaly", "MONDO:0004651": "smallpox", "MONDO:0000966": "pleomorphic lipoma", "MONDO:0001139": "sexual masochism disorder", "MONDO:0000451": "primary progressive multiple sclerosis", "MONDO:0002082": "endocrine gland neoplasm", "MONDO:0004584": "maple bark strippers' lung", "MONDO:0003607": "neuritis of upper limb", "MONDO:0005676": "borna disease", "MONDO:0004017": "pineal region immature teratoma", "MONDO:0001924": "dystrophies primarily involving the retinal pigment epithelium", "MONDO:0022715": "Chiari malformation type 3", "MONDO:0004578": "flat retinoschisis", "MONDO:0006054": "reproductive system neoplasm", "MONDO:0006748": "epilepsia partialis continua", "MONDO:0001320": "ring staphyloma", "MONDO:0005949": "roseolovirus infectious disease", "MONDO:0024864": "medium/large size posterior uveal melanoma", "MONDO:0004464": "nephrogenic adenoma of the urethra", "MONDO:0024310": "angiodysplasia of stomach", "MONDO:0003969": "amphetamine abuse", "MONDO:0002127": "urethral stricture (disease)", "MONDO:0005531": "morphine dependence", "MONDO:0021322": "malignant tumor of meninges", "MONDO:0011634": "rippling muscle disease", "MONDO:0004229": "acantholytic variant squamous cell breast carcinoma", "MONDO:0005043": "hyperplasia", "MONDO:0001370": "pericardial effusion (disease)", "MONDO:0006059": "nasal cavity squamous cell carcinoma", "MONDO:0003381": "pituitary gland disease", "MONDO:0000941": "eyelid degenerative disease", "MONDO:0005191": "metastatic melanoma", "MONDO:0041284": "primary motor cortex epilepsy", "MONDO:0000381": "infiltrating renal pelvis transitional cell carcinoma", "MONDO:0022990": "diphallus rachischisis imperforate anus", "MONDO:0021259": "prostate neoplasm", "MONDO:0016896": "partial deletion of the short arm of chromosome 18", "MONDO:0007684": "granulomatous disease, chronic, autosomal dominant type", "MONDO:0001232": "orbital osteomyelitis", "MONDO:0003408": "ovarian primitive germ cell tumor", "MONDO:0004940": "acute female pelvic peritonitis", "MONDO:0022025": "boylan dew greco syndrome", "MONDO:0003655": "cerebral lymphoma", "MONDO:0003085": "keratitis", "MONDO:0001178": "pseudopterygium", "MONDO:0001528": "vulva cancer", "MONDO:0041295": "acute papillary necrosis", "MONDO:0004045": "pediatric intraocular retinoblastoma", "MONDO:0006073": "adenomatoid odontogenic tumor", "MONDO:0000377": "malignant Leydig cell tumor", "MONDO:0020648": "rubella encephalitis", "MONDO:0016538": "hypotonia-cystinuria syndrome type 1", "MONDO:0023021": "dwarfism lethal type advanced bone age", "MONDO:0001702": "labia majora carcinoma", "MONDO:0006990": "suppurative uveitis", "MONDO:0001328": "thyroid hormone resistance syndrome", "MONDO:0022323": "2-hydroxyethyl methacrylate sensitization", "MONDO:0020638": "superficial spreading melanoma", "MONDO:0009641": "mitochondrial complex II deficiency", "MONDO:0042705": "prostatic malacoplakia associated with prostatic abscess", "MONDO:0006476": "undifferentiated gallbladder carcinoma", "MONDO:0001020": "amblyopia (disease)", "MONDO:0001615": "epidemic keratoconjunctivitis", "MONDO:0003916": "overnutrition", "MONDO:0005605": "transitional cell papilloma", "MONDO:0006844": "magnesium deficiency", "MONDO:0004953": "invasive ductal breast carcinoma", "MONDO:0044989": "foot disease", "MONDO:0021945": "hearing disorder", "MONDO:0003121": "middle cranial fossa meningioma", "MONDO:0005425": "podoconiosis", "MONDO:0004064": "iris melanoma", "MONDO:0002209": "heel spur", "MONDO:0002610": "purpura (disease)", "MONDO:0003290": "simple partial epilepsy", "MONDO:0001616": "lobomycosis", "MONDO:0005628": "male breast carcinoma", "MONDO:0044789": "digital papillary eccrine carcinoma", "MONDO:0007929": "Epstein syndrome", "MONDO:0001202": "prostatic cyst", "MONDO:0006199": "endometrial undifferentiated carcinoma", "MONDO:0044906": "bladder urothelial papilloma", "MONDO:0001948": "Riedel's fibrosing thyroiditis", "MONDO:0002189": "nodular hidradenoma", "MONDO:0002587": "encapsulated thymoma", "MONDO:0011751": "COPD, severe early onset", "MONDO:0000233": "Japanese spotted fever", "MONDO:0021640": "grade III glioma", "MONDO:0021132": "tertiary hyperparathyroidism", "MONDO:0021052": "parasympathetic paraganglioma", "MONDO:0009245": "Friedreich ataxia", "MONDO:0001922": "pyoureter", "MONDO:0021895": "temporomandibular joint dysfunction syndrome", "MONDO:0004667": "sublingual gland cancer", "MONDO:0004185": "ovarian serous cystadenofibroma", "MONDO:0002944": "external ear carcinoma", "MONDO:0045055": "glycogen-rich carcinoma", "MONDO:0043207": "urethral obstruction sequence", "MONDO:0020812": "exposure, dental pulp", "MONDO:0045002": "vertebral disease", "MONDO:0021408": "polyp of frontal sinus", "MONDO:0040753": "inactive tuberculosis", "MONDO:0044334": "connective and soft tissue neoplasm", "MONDO:0001511": "thyrotoxic exophthalmos", "MONDO:0002550": "hypoglossal nerve neoplasm", "MONDO:0005265": "inflammatory bowel disease", "MONDO:0001763": "ethmoid sinus cancer", "MONDO:0005728": "diaphragm disease", "MONDO:0000962": "spindle cell lipoma", "MONDO:0022732": "chorea minor", "MONDO:0005905": "periodic limb movement disorder", "MONDO:0002761": "cervical verrucous carcinoma", "MONDO:0004235": "diverticulitis", "MONDO:0024234": "Seckel like syndrome majoor-krakauer type", "MONDO:0002109": "pituitary cancer", "MONDO:0021368": "neoplasm of major salivary gland", "MONDO:0000949": "conjunctival degeneration", "MONDO:0003956": "Baastrup syndrome", "MONDO:0006951": "retinal vein occlusion", "MONDO:0002000": "anaerobic meningitis", "MONDO:0002103": "factitious disorder", "MONDO:0002146": "hypogonadism", "MONDO:0024422": "auditory perceptual disorders", "MONDO:0024475": "squamous cell intraepithelial neoplasia", "MONDO:0021910": "aplasia cutis myopia", "MONDO:0021088": "papillary meningioma", "MONDO:0022425": "alpha-thalassemia-abnormal morphogenesis", "MONDO:0001959": "labyrinthine bilateral reactive loss", "MONDO:0044876": "drug hypersensitivity syndrome", "MONDO:0023581": "Kuster syndrome", "MONDO:0056818": "skin adenosquamous carcinoma", "MONDO:0004055": "acute inflammation of lacrimal passage", "MONDO:0001161": "schizoid personality disorder", "MONDO:0004389": "mite infestation", "MONDO:0024612": "manic bipolar affective disorder", "MONDO:0021248": "nervous system neoplasm", "MONDO:0024582": "male reproductive system neoplasm", "MONDO:0017938": "X-linked cleft palate with or without ankyloglossia", "MONDO:0021511": "benign neoplasm of adrenal gland", "MONDO:0003347": "inflammatory leiomyosarcoma", "MONDO:0002074": "Behcet syndrome arthropathy", "MONDO:0002938": "metatypical basal cell carcinoma", "MONDO:0022898": "craniosynostosis mental retardation heart defects", "MONDO:0005876": "Nidovirales infectious disease", "MONDO:0008890": "progressive bulbar palsy", "MONDO:0000929": "balloon cell malignant melanoma", "MONDO:0005084": "mental disorder", "MONDO:0002863": "rhabdomyosarcoma with mixed embryonal and alveolar features", "MONDO:0043089": "acute posterior multifocal placoid pigment epitheliopathy", "MONDO:0006962": "sebaceous adenocarcinoma", "MONDO:0005586": "head and neck neoplasm", "MONDO:0002721": "necrosis of pituitary", "MONDO:0006539": "diffuse lipomatosis", "MONDO:0000541": "jejunal adenocarcinoma (disease)", "MONDO:0000429": "autosomal genetic disease", "MONDO:0000545": "sublingual gland adenoid cystic carcinoma", "MONDO:0004811": "simple chronic conjunctivitis", "MONDO:0001299": "diabetic autonomic neuropathy", "MONDO:0004066": "intermediate cell type ciliary body melanoma", "MONDO:0003512": "mediastinal mesenchymal tumor", "MONDO:0003752": "frontal sinus Schneiderian papilloma", "MONDO:0002328": "intracranial hemangioma", "MONDO:0001731": "benign vaginal mixed epithelial and mesenchymal neoplasm", "MONDO:0001485": "atypical depressive disorder", "MONDO:0025459": "rinderpest", "MONDO:0000351": "disorder of methionine catabolism", "MONDO:0021948": "cutaneous tuberculosis", "MONDO:0000667": "auditory agnosia", "MONDO:0001252": "Plummer disease", "MONDO:0021116": "luminal A breast carcinoma", "MONDO:0002089": "retinal vascular occlusion", "MONDO:0004910": "mitral valve prolapse (disease)", "MONDO:0020699": "biotin metabolic disease", "MONDO:0010556": "X-linked chondrodysplasia punctata", "MONDO:0006128": "central nervous system anaplastic large cell lymphoma", "MONDO:0100034": "cerebral folate deficiency", "MONDO:0044965": "abdominal and pelvic region disorder", "MONDO:0005880": "oesophagostomiasis", "MONDO:0001142": "salivary gland disease", "MONDO:0003824": "hereditary kidney oncocytoma", "MONDO:0020641": "respiratory tract neoplasm", "MONDO:0004943": "orbit sarcoma", "MONDO:0006680": "blue nevus", "MONDO:0000814": "B-cell adult acute lymphocytic leukemia", "MONDO:0044797": "desmoplastic nevus", "MONDO:0003515": "fallopian tube teratoma", "MONDO:0002112": "benign peritoneal mesothelioma", "MONDO:0002996": "cavernous sinus meningioma", "MONDO:0001950": "corneal ectasia", "MONDO:0041259": "diphtheritic myocarditis", "MONDO:0004966": "gastritis (disease)", "MONDO:0022802": "Collins-Sakati syndrome", "MONDO:0022178": "chromosome 13q-mosaicism", "MONDO:0024500": "duodenal neuroendocrine neoplasm", "MONDO:0022810": "Combarros Calleja Leno syndrome", "MONDO:0000786": "plum allergy", "MONDO:0003671": "septal myocardial infarction", "MONDO:0001503": "primary eye hypotony", "MONDO:0006567": "kernicterus due to isoimmunization", "MONDO:0020503": "resistance to thyrotropin-releasing hormone syndrome", "MONDO:0022822": "congenital cardiovascular shunt", "MONDO:0024355": "respiratory tract infectious disease", "MONDO:0041114": "peripheral ischemia", "MONDO:0023147": "fetal parainfluenza virus type 3 syndrome", "MONDO:0006866": "neonatal myasthenia gravis", "MONDO:0002922": "pyoderma", "MONDO:0006396": "rectal villous adenoma", "MONDO:0043267": "rheumatoid vasculitis", "MONDO:0043465": "achlorhydria", "MONDO:0003834": "gastric cardia carcinoma", "MONDO:0003785": "leukopenia", "MONDO:0005784": "hantavirus hemorrhagic fever with renal syndrome", "MONDO:0002966": "splenic manifestation of prolymphocytic leukemia", "MONDO:0004855": "tenosynovitis", "MONDO:0005759": "fascioloidiasis", "MONDO:0004923": "chronic inflammation of lacrimal passage", "MONDO:0004703": "bladder carcinoma in situ", "MONDO:0002730": "childhood kidney neoplasm", "MONDO:0000640": "central nervous system primitive neuroectodermal neoplasm", "MONDO:0000728": "ptosis (disease)", "MONDO:0006209": "fibroblastic neoplasm", "MONDO:0005684": "bulbar polio", "MONDO:0056814": "hormone-resistant prostate carcinoma", "MONDO:0005519": "renal pelvis carcinoma", "MONDO:0023297": "guttate psoriasis", "MONDO:0003763": "acute stress disorder", "MONDO:0003078": "extraocular retinoblastoma", "MONDO:0024321": "disorder of GPI anchor biosynthesis", "MONDO:0002072": "melanotic neuroectodermal tumor", "MONDO:0024267": "epidemic encephalitis", "MONDO:0003454": "conjunctival cancer", "MONDO:0000114": "cerebelloparenchymal disorder", "MONDO:0004886": "diffuse secondary choroid atrophy", "MONDO:0005564": "embryonal neoplasm", "MONDO:0005915": "pityriasis versicolor", "MONDO:0002523": "cutaneous mucinosis", "MONDO:0004588": "night blindness", "MONDO:0004713": "lower gum cancer", "MONDO:0024236": "degenerative disorder", "MONDO:0006590": "palmoplantar keratosis", "MONDO:0021720": "fetal alcohol spectrum disorders", "MONDO:0004969": "acute quadriplegic myopathy", "MONDO:0006839": "Lutembacher syndrome", "MONDO:0001973": "Brucella abortus brucellosis", "MONDO:0006446": "testicular embryonal carcinoma", "MONDO:0023682": "tympanic paraganglioma", "MONDO:0018774": "erythrokeratodermia-cardiomyopathy syndrome", "MONDO:0001268": "gingival recession", "MONDO:0001224": "Angelucci syndrome", "MONDO:0005070": "neoplasm (disease)", "MONDO:0005707": "coccidiosis", "MONDO:0003509": "pineal region choriocarcinoma", "MONDO:0001473": "medulloadrenal hyperfunction", "MONDO:0006008": "vestibular neuronitis", "MONDO:0001502": "retroperitoneum carcinoma", "MONDO:0001883": "blue toe syndrome", "MONDO:0001462": "descending colon cancer", "MONDO:0004331": "bladder urachal adenocarcinoma", "MONDO:0005138": "lung carcinoma", "MONDO:0005013": "dedifferentiated chondrosarcoma", "MONDO:0000944": "cerebral artery occlusion", "MONDO:0002639": "glossopharyngeal nerve disease", "MONDO:0003395": "testicular granulosa cell tumor", "MONDO:0054869": "nondystrophic myotonia", "MONDO:0006987": "subvalvular aortic stenosis", "MONDO:0021225": "uvea neoplasm", "MONDO:0006604": "rosacea", "MONDO:0017133": "genetic systemic or rheumatologic disease", "MONDO:0003073": "trilateral retinoblastoma", "MONDO:0020639": "monosomy", "MONDO:0043589": "femoral neck fracture", "MONDO:0003875": "childhood central nervous system mature teratoma", "MONDO:0006502": "adult respiratory distress syndrome", "MONDO:0005376": "membranous glomerulonephritis", "MONDO:0003469": "epithelioid cell synovial sarcoma", "MONDO:0001873": "geniculate ganglionitis", "MONDO:0005855": "molluscum contagiosum", "MONDO:0000943": "acute hydrops keratoconus", "MONDO:0011333": "light fixation seizure syndrome", "MONDO:0005704": "Ciliophora infectious disease", "MONDO:0001471": "histoplasmosis meningitis", "MONDO:0006782": "hemometra", "MONDO:0022633": "camptodactyly joint contractures and facial skeletal dysplasia", "MONDO:0004078": "mucinous intrahepatic cholangiocarcinoma", "MONDO:0005965": "spinal stenosis", "MONDO:0022013": "Boerhaave syndrome", "MONDO:0005347": "hypertriglyceridemia (disease)", "MONDO:0005992": "trichinosis", "MONDO:0001717": "posterior corneal pigmentation", "MONDO:0001802": "acute tympanitis", "MONDO:0004909": "urethral gland abscess", "MONDO:0045015": "carbohydrate transport disease", "MONDO:0004262": "breast myoepitheliosis", "MONDO:0002262": "capillary lymphangioma", "MONDO:0002847": "skeletal muscle cancer", "MONDO:0002317": "central nervous system origin vertigo", "MONDO:0001822": "hypolipoproteinemia (disease)", "MONDO:0004194": "ovarian stromal hyperthecosis", "MONDO:0003517": "mature teratoma", "MONDO:0024287": "congenital vascular malformation", "MONDO:0023472": "chondrodysplasia situs inversus imperforate anus polydactyly", "MONDO:0004565": "intestinal obstruction", "MONDO:0003453": "conjunctival intraepithelial neoplasm", "MONDO:0001947": "suppurative thyroiditis", "MONDO:0004552": "microinvasive cervical squamous cell carcinoma", "MONDO:0100014": "autoimmune retinopathy", "MONDO:0022456": "ankle defects short stature", "MONDO:0002488": "intraductal breast neoplasm", "MONDO:0022576": "bilirubin induced brain injury in the newborn", "MONDO:0001875": "epicondylitis", "MONDO:0005271": "allergic disease", "MONDO:0044997": "midbrain disease", "MONDO:0001888": "anus lymphoma", "MONDO:0005095": "spondyloarthropathy", "MONDO:0004009": "kidney pelvis sarcomatoid transitional cell carcinoma", "MONDO:0004048": "immature gastric teratoma", "MONDO:0023069": "enlarged vestibular aqueduct syndrome", "MONDO:0004824": "neonatal candidiasis", "MONDO:0001086": "partial optic atrophy", "MONDO:0004075": "infiltrating lipoma", "MONDO:0044993": "sympathetic nervous system disease", "MONDO:0042491": "cervical squamous intraepithelial neoplasia", "MONDO:0002216": "brain sarcoma", "MONDO:0021849": "alopecia macular degeneration growth retardation syndome", "MONDO:0001379": "ureteric orifice cancer", "MONDO:0003524": "gastric gastrin-producing neuroendocrine tumor", "MONDO:0021468": "benign neoplasm of adrenal medulla", "MONDO:0043094": "ichthyosis, follicular", "MONDO:0003165": "cerebellar astrocytoma", "MONDO:0004130": "anus basaloid carcinoma", "MONDO:0000457": "classical glioblastoma", "MONDO:0000676": "phonagnosia", "MONDO:0006864": "necrotizing sialometaplasia", "MONDO:0021296": "carcinoma in situ of renal pelvis", "MONDO:0002529": "skin squamous cell carcinoma", "MONDO:0003627": "rheumatic pulmonary valve disease", "MONDO:0044984": "nasolacrimal duct disease", "MONDO:0003844": "central nervous system lipoma", "MONDO:0001535": "vagus nerve disease", "MONDO:0007019": "vulvovaginitis", "MONDO:0003705": "adult brainstem mixed glioma", "MONDO:0006630": "osteoarthritis, spine", "MONDO:0023513": "Jeune syndrome situs inversus", "MONDO:0006178": "dedifferentiated solitary fibrous tumor", "MONDO:0000015": "classic complement early component deficiency", "MONDO:0015318": "Pierre Robin syndrome associated with collagen disease", "MONDO:0023563": "Kotzot-Richter syndrome", "MONDO:0002244": "factor VII deficiency", "MONDO:0001498": "varicocele", "MONDO:0001387": "penile sarcoma", "MONDO:0003253": "vulvar granular cell tumor", "MONDO:0020585": "anemia due to erythrocyte enzyme disorder", "MONDO:0025030": "digital dermatitis in cattle", "MONDO:0001868": "primary angle-closure glaucoma", "MONDO:0003734": "adult central nervous system immature teratoma", "MONDO:0006849": "mastitis", "MONDO:0022953": "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency", "MONDO:0006809": "intracranial embolism", "MONDO:0044889": "high grade B-cell lymphoma", "MONDO:0003575": "comedocarcinoma", "MONDO:0001897": "bilateral hyperactive labyrinth", "MONDO:0004221": "uterine corpus perivascular epithelioid cell tumor", "MONDO:0020838": "anterior nasal diphtheria", "MONDO:0006505": "basal ganglia cerebrovascular disease", "MONDO:0006876": "ocular tuberculosis", "MONDO:0003379": "rectum leiomyosarcoma", "MONDO:0004799": "ulcerative blepharitis", "MONDO:0000651": "thoracic disease", "MONDO:0004993": "carcinoma", "MONDO:0012201": "tibia, bowing of, with pseudarthrosis and pectus excavatum", "MONDO:0003608": "optic atrophy", "MONDO:0001226": "acute contagious conjunctivitis", "MONDO:0025419": "furunculosis", "MONDO:0000358": "orofacial cleft", "MONDO:0001928": "suppurative cholangitis", "MONDO:0003129": "epithelial predominant pulmonary blastoma", "MONDO:0002378": "dermoid cyst", "MONDO:0006158": "colorectal diffuse large B-cell lymphoma", "MONDO:0020598": "malabsorption syndrome", "MONDO:0000980": "aortic atherosclerosis (disease)", "MONDO:0001732": "trigonitis", "MONDO:0025518": "aspirin allergy", "MONDO:0018238": "rare bone disease related to a common gene or pathway defect", "MONDO:0003405": "adult central nervous system germ cell tumor", "MONDO:0005798": "HIV-associated nephropathy", "MONDO:0001014": "chronic leukemia", "MONDO:0004397": "benign mediastinal psammomatous neurilemmoma", "MONDO:0005358": "Dengue hemorrhagic fever", "MONDO:0023182": "Franceschini Vardeu Guala syndrome", "MONDO:0011649": "AVSD 1", "MONDO:0001721": "urethral intrinsic sphincter deficiency", "MONDO:0001995": "sphenoid sinus squamous cell carcinoma", "MONDO:0006718": "cutaneous syphilis", "MONDO:0005921": "Plasmodium vivax malaria", "MONDO:0020595": "disease of retroperitoneum", "MONDO:0004634": "vein disease", "MONDO:0040699": "necrotizing scleritis", "MONDO:0006138": "cervical large cell neuroendocrine carcinoma", "MONDO:0003714": "bladder urachal squamous cell carcinoma", "MONDO:0004161": "uterine corpus apoplectic leiomyoma", "MONDO:0006294": "pleural cancer", "MONDO:0002368": "papillary serous cystadenocarcinoma", "MONDO:0005457": "acute stress reaction", "MONDO:0003856": "adult malignant hemangiopericytoma", "MONDO:0023039": "eccrine mucinous carcinoma", "MONDO:0005672": "blastomycosis", "MONDO:0023167": "focal alopecia congenital megalencephaly", "MONDO:0003709": "agoraphobia", "MONDO:0004964": "peripheral T-cell lymphoma, not otherwise specified", "MONDO:0001861": "malignant parietal pleura tumor", "MONDO:0003781": "bronchitis", "MONDO:0003065": "nasal cavity inverting papilloma", "MONDO:0003084": "uremic neuropathy", "MONDO:0020381": "patterned macular dystrophy", "MONDO:0001472": "testicular lymphoma", "MONDO:0001799": "localized anterior staphyloma", "MONDO:0003532": "breast papillary carcinoma", "MONDO:0000245": "tinea imbricata", "MONDO:0001132": "sexual sadism disorder", "MONDO:0008122": "olivopontocerebellar atrophy 5", "MONDO:0004482": "fibroosseous pseudotumor of the digits", "MONDO:0023000": "dobrow syndrome", "MONDO:0023035": "eagle syndrome", "MONDO:0024482": "eccrine sweat gland hamartoma", "MONDO:0021925": "tracheobronchitis", "MONDO:0002703": "appendix mucinous cystadenocarcinoma", "MONDO:0003846": "viral esophagitis", "MONDO:0004857": "tendinitis", "MONDO:0003777": "renal pelvis urothelial papilloma", "MONDO:0006279": "lung sarcomatoid carcinoma", "MONDO:0003803": "aortic valve disease", "MONDO:0010892": "mitochondrial myopathy and sideroblastic anemia", "MONDO:0002682": "cerebral ventricle cancer", "MONDO:0021211": "brain neoplasm", "MONDO:0005754": "epilepsy with generalized tonic-clonic seizures", "MONDO:0024868": "metastatic carcinoma in the adrenal medulla", "MONDO:0004802": "pulmonary eosinophilia", "MONDO:0001399": "ureter leiomyoma", "MONDO:0003161": "benign ependymoma", "MONDO:0037807": "glycerol metabolism disease", "MONDO:0023510": "Jaffer-Beighton syndrome", "MONDO:0002606": "epithelioid type angiomyolipoma", "MONDO:0000781": "cherry allergy", "MONDO:0004044": "ureter urothelial papilloma", "MONDO:0001338": "acute apical periodontitis", "MONDO:0003243": "hepatocellular clear cell carcinoma", "MONDO:0022942": "deafness mesenteric diverticula of small bowel neuropathy", "MONDO:0004758": "scotoma (disease)", "MONDO:0004861": "ophthalmia nodosa", "MONDO:0037252": "thecoma", "MONDO:0002433": "malignant cranial nerve neoplasm", "MONDO:0022900": "athyreotic congenital hypothyroidism", "MONDO:0021500": "benign neoplasm of spleen", "MONDO:0004801": "unilateral hypoactive labyrinth", "MONDO:0043218": "neurovascular disease", "MONDO:0060720": "congenital disorder of glycosylation with defective fucosylation", "MONDO:0043512": "traumatic encephalopathy", "MONDO:0005626": "epithelial neoplasm", "MONDO:0004878": "female breast upper-outer quadrant cancer", "MONDO:0004690": "tonsillar fossa cancer", "MONDO:0004752": "neurofibroma of the heart", "MONDO:0000521": "salivary gland carcinoma", "MONDO:0001821": "hypoactive sexual desire disorder", "MONDO:0009494": "Ketoadipicaciduria", "MONDO:0002130": "upper limb mononeuronitis", "MONDO:0044342": "thoracic disc degenerative disorder", "MONDO:0001508": "patulous eustachian tube", "MONDO:0002187": "vulvar disease", "MONDO:0018706": "syndromic sensorineural deafness due to combined oxidative phosphorylation defect", "MONDO:0002136": "eczematous dermatitis of eyelid", "MONDO:0007263": "cardiac rhythm disease", "MONDO:0021673": "post-bacterial disorder", "MONDO:0002405": "hepatic vascular disease", "MONDO:0005682": "bronchopneumonia", "MONDO:0006329": "olfactory neuroblastoma", "MONDO:0002978": "orbit alveolar rhabdomyosarcoma", "MONDO:0044764": "benign choroid plexus neoplasm", "MONDO:0005691": "cardiovirus infectious disease", "MONDO:0006772": "glycogen storage disease VIII", "MONDO:0006091": "appendix neuroendocrine tumor G1", "MONDO:0001846": "uterine corpus bizarre leiomyoma", "MONDO:0020588": "lung PEComa", "MONDO:0017960": "CANDLE syndrome", "MONDO:0006847": "malignant lymphatic vessel tumor", "MONDO:0000536": "pharyngeal squamous cell carcinoma", "MONDO:0004819": "indolent myeloma", "MONDO:0041996": "thallium poisoning", "MONDO:0001098": "separation anxiety disorder", "MONDO:0022575": "biliary hypoplasia", "MONDO:0005509": "histiocytoma", "MONDO:0003306": "atypical neurofibroma", "MONDO:0006010": "salmonid viral hemorrhagic septicemia", "MONDO:0014045": "Cowden syndrome 3", "MONDO:0006028": "cecum adenocarcinoma", "MONDO:0022580": "blepharo naso facial syndrome van Maldergem type", "MONDO:0002558": "melanotic neurilemmoma", "MONDO:0003618": "pyosalpinx", "MONDO:0006264": "laryngeal adenoid cystic carcinoma", "MONDO:0001521": "intermittent explosive disorder", "MONDO:0004567": "ileus", "MONDO:0021416": "polyp of gallbladder", "MONDO:0002634": "liposarcoma of bone", "MONDO:0006427": "spindle cell melanoma", "MONDO:0002061": "intraductal papillary breast neoplasm", "MONDO:0006223": "gastric diffuse large B-cell lymphoma", "MONDO:0021662": "bile duct neoplasm", "MONDO:0004786": "chronic cholangitis", "MONDO:0021357": "tumor of salivary gland", "MONDO:0003399": "pineal region yolk sac tumor", "MONDO:0023214": "gas bloat syndrome", "MONDO:0002952": "follicular basal cell carcinoma", "MONDO:0003571": "labyrinthine dysfunction", "MONDO:0021650": "uterine corpus neuroendocrine neoplasm", "MONDO:0024301": "acquired mineral metabolism disease", "MONDO:0001126": "gastric ulcer (disease)", "MONDO:0030604": "cystic partially differentiated nephroblastoma", "MONDO:0006711": "constrictive pericarditis (disease)", "MONDO:0003348": "conventional leiomyosarcoma", "MONDO:0000252": "inflammatory diarrhea", "MONDO:0015320": "Pierre Robin syndrome associated with a chromosomal anomaly", "MONDO:0004766": "status asthmaticus", "MONDO:0004046": "childhood brain meningioma", "MONDO:0001048": "orbital granuloma", "MONDO:0023013": "Duker-Weiss-Siber syndrome", "MONDO:0009812": "osteomalacia, sclerosing, with cerebral calcification", "MONDO:0002624": "bone leiomyosarcoma", "MONDO:0025294": "tick-borne infectious disease", "MONDO:0004985": "bipolar disorder", "MONDO:0018782": "type 1 interferonopathy", "MONDO:0004856": "rosacea conjunctivitis", "MONDO:0006548": "facial dermatosis", "MONDO:0003936": "invasive tubular breast carcinoma", "MONDO:0006195": "endometrial polyp", "MONDO:0000156": "trigonocephaly", "MONDO:0005334": "hereditary nephritis", "MONDO:0003153": "adult brainstem glioma", "MONDO:0025453": "pneumonia, progressive interstitial, of sheep", "MONDO:0024454": "sacral nerve plexus disease", "MONDO:0042601": "Samson-Gardner syndrome", "MONDO:0000963": "esophageal lipoma", "MONDO:0042966": "inherited mitral valve disease", "MONDO:0016329": "familial syndrome associated with hypertrophic cardiomyopathy", "MONDO:0023037": "elongated styloid process syndrome", "MONDO:0004401": "testis refractory cancer", "MONDO:0000672": "form agnosia", "MONDO:0001451": "peripheral retinal degeneration", "MONDO:0002681": "choroid plexus cancer", "MONDO:0024318": "viral infection of central nervous system", "MONDO:0005097": "squamous cell lung carcinoma", "MONDO:0003839": "ovarian mucinous adenocarcinofibroma", "MONDO:0004806": "chronic eosinophilic pneumonia", "MONDO:0003017": "malignant peritoneal solitary fibrous tumor", "MONDO:0020689": "AIDS dementia complex", "MONDO:0100061": "PRPS1 deficiency disorder", "MONDO:0006667": "b- and T-cell mixed leukemia", "MONDO:0001687": "diabetic cataract", "MONDO:0022357": "congenital acardia", "MONDO:0006011": "viral hepatitis", "MONDO:0002601": "teratoma", "MONDO:0015543": "hemophagocytic syndrome associated with an infection", "MONDO:0003937": "spondylitis", "MONDO:0005606": "tubular adenocarcinoma", "MONDO:0005804": "hyperprolactinemia (disease)", "MONDO:0060779": "acquired Fanconi syndrome", "MONDO:0000748": "mastoiditis (disease)", "MONDO:0004882": "angioid streaks of choroid", "MONDO:0021534": "rectal neuroendocrine tumor G1", "MONDO:0006323": "non-seminomatous lesion", "MONDO:0004212": "vulvar keratoacanthoma-like carcinoma", "MONDO:0002603": "angiomyolipoma", "MONDO:0003186": "esophageal adenoid cystic carcinoma", "MONDO:0001276": "expressive language disorder", "MONDO:0005993": "Trichomonas vaginitis urogenital infection", "MONDO:0004386": "uterine corpus atypical polypoid adenomyoma", "MONDO:0000490": "glomerulosclerosis", "MONDO:0005169": "neoplasm of mature T-cells or NK-cells", "MONDO:0004891": "hyperopia", "MONDO:0002908": "glucose metabolism disease", "MONDO:0005610": "Kashin-Beck disease", "MONDO:0005381": "bone disease", "MONDO:0006002": "urogenital tuberculosis", "MONDO:0021191": "malignant ependymoma", "MONDO:0022938": "deafness goiter stippled epiphyses", "MONDO:0000938": "gastric leiomyoma", "MONDO:0022308": "corticobasal degeneration disorder", "MONDO:0001775": "chronic duodenal ileus", "MONDO:0004708": "esophagus carcinoma in situ", "MONDO:0004530": "early invasive cervical adenocarcinoma", "MONDO:0005994": "trichostrongyloidiasis", "MONDO:0006796": "hypertensive encephalopathy", "MONDO:0000844": "spondyloepimetaphyseal dysplasia", "MONDO:0003255": "mediastinal granular cell myoblastoma", "MONDO:0005881": "oligohydramnios (disease)", "MONDO:0006276": "lung inflammatory myofibroblastic tumor", "MONDO:0005399": "venous thromboembolism", "MONDO:0001305": "laryngostenosis", "MONDO:0021067": "mediastinal germ cell tumor", "MONDO:0001234": "adhesive otitis media", "MONDO:0041806": "drug-resistant tuberculosis", "MONDO:0000947": "psychosexual disorder", "MONDO:0042902": "Say-Carpenter syndrome", "MONDO:0009316": "hair defect-photosensitivity-intellectual disability syndrome", "MONDO:0022733": "choreoacanthocytosis amyotrophic", "MONDO:0002196": "perinatal intestinal perforation", "MONDO:0008120": "spinocerebellar ataxia type 7", "MONDO:0004731": "central sleep apnea syndrome", "MONDO:0022610": "bronchiectasis oligospermia", "MONDO:0003461": "fallopian tube serous adenofibroma", "MONDO:0001795": "plantar wart", "MONDO:0021736": "proctosigmoiditis", "MONDO:0024620": "meningitis caused by poliovirus", "MONDO:0005841": "maxillary neoplasm", "MONDO:0001877": "infertility due to extratesticular cause", "MONDO:0001271": "lens subluxation (disease)", "MONDO:0004574": "pyridoxine deficiency anemia", "MONDO:0002319": "phosphorus metabolism disease", "MONDO:0006789": "hyperamylasemia", "MONDO:0021392": "polyp of large intestine", "MONDO:0020606": "sex-linked disease", "MONDO:0000732": "combined oxidative phosphorylation deficiency", "MONDO:0056802": "synovial bursa disease", "MONDO:0000242": "tinea barbae", "MONDO:0006610": "skin atrophy", "MONDO:0005299": "brain ischemia", "MONDO:0023005": "double uterus-hemivagina-renal agenesis", "MONDO:0004354": "neonatal leukemia", "MONDO:0006422": "small intestinal tubulovillous adenoma", "MONDO:0001247": "social phobia", "MONDO:0045016": "cholesterol catabolic process disease", "MONDO:0006408": "sex hormone-producing adrenal cortex adenoma", "MONDO:0003907": "ovarian yolk sac tumor, polyvesicular vitelline pattern", "MONDO:0003929": "vestibular micropapillomatosis", "MONDO:0001206": "aqueous misdirection", "MONDO:0004894": "cyclotropia", "MONDO:0006410": "simple endometrial hyperplasia", "MONDO:0005339": "androgenetic alopecia", "MONDO:0000586": "autoimmune disease of exocrine system", "MONDO:0021142": "acquired rippling muscle disease", "MONDO:0003753": "nasal vestibule squamous papilloma", "MONDO:0022034": "lentivirus infection", "MONDO:0001313": "acute allergic serous otitis media", "MONDO:0003009": "hyperaldosteronism", "MONDO:0006307": "mixed somatotroph-lactotroph pituitary gland adenoma", "MONDO:0005785": "henipavirus infectious disease", "MONDO:0016286": "adenoid cystic carcinoma of the cervix uteri", "MONDO:0003361": "small intestinal sarcoma", "MONDO:0045060": "intraductal cribriform breast adenocarcinoma", "MONDO:0043240": "hemophilic arthropathy", "MONDO:0006330": "ossifying fibromyxoid tumor", "MONDO:0002183": "enthesopathy", "MONDO:0024338": "mucinous neoplasm", "MONDO:0022769": "ciliary dyskinesia-bronchiectasis", "MONDO:0043975": "autonomic dysreflexia", "MONDO:0043127": "mehta lewis patton syndrome", "MONDO:0004410": "sarcomatoid penile squamous cell carcinoma", "MONDO:0021301": "adenoma of nipple", "MONDO:0002461": "membranoproliferative glomerulonephritis (disease)", "MONDO:0012356": "glomerulocystic kidney disease with hyperuricemia and isosthenuria", "MONDO:0022654": "cardiomyopathy hypogonadism collagenoma syndrome", "MONDO:0000925": "hyperlucent lung", "MONDO:0004100": "lung mixed small cell and squamous cell carcinoma", "MONDO:0006424": "soft tissue neoplasm", "MONDO:0007025": "chancre", "MONDO:0021201": "skin infection", "MONDO:0002062": "breast myofibroblastoma", "MONDO:0005266": "diabetic retinopathy", "MONDO:0003130": "mesoblastic nephroma", "MONDO:0021745": "psychosocial short stature", "MONDO:0003197": "granular cell carcinoma", "MONDO:0005276": "dental caries", "MONDO:0021783": "streptococcal sore throat", "MONDO:0003764": "pediatric leptomeningeal melanoma", "MONDO:0021210": "trachea neoplasm", "MONDO:0000341": "paralytic poliomyelitis", "MONDO:0024297": "nutritional or metabolic disease", "MONDO:0001640": "gonococcal spondylitis", "MONDO:0002492": "acute kidney failure", "MONDO:0024376": "sleep disorder, initiating and maintaining sleep", "MONDO:0020977": "granulomatous prostatitis", "MONDO:0021218": "placenta neoplasm", "MONDO:0001497": "male genital organ vascular disease", "MONDO:0005914": "Picornaviridae infectious disease", "MONDO:0001458": "ulnar nerve lesion", "MONDO:0004889": "total central choroidal atrophy", "MONDO:0002048": "thrombocytopenia due to immune destruction", "MONDO:0005434": "skin sensitivity to sun", "MONDO:0001076": "glucose intolerance", "MONDO:0011499": "Okamoto syndrome", "MONDO:0022606": "branchial arch disease", "MONDO:0000776": "metal allergy", "MONDO:0003355": "ovary leiomyosarcoma", "MONDO:0000625": "benign male reproductive system neoplasm", "MONDO:0006615": "sweat gland disease", "MONDO:0003942": "eosinophilic variant of chromophobe renal cell carcinoma", "MONDO:0043152": "negative rheumatoid factor polyarthritis", "MONDO:0006694": "cerebral atherosclerosis", "MONDO:0000976": "paratesticular lipoma", "MONDO:0002397": "liver sarcoma", "MONDO:0042370": "Yersinia enterocolitica infectious disease", "MONDO:0006041": "lung carcinoid tumor", "MONDO:0004226": "diffuse intraductal papillomatosis", "MONDO:0020677": "sudden hearing loss disorder", "MONDO:0003199": "anal carcinoma", "MONDO:0003122": "striatonigral degeneration", "MONDO:0002435": "oculomotor nerve neoplasm", "MONDO:0003315": "endometrium carcinoma in situ", "MONDO:0000230": "Israeli tick typhus", "MONDO:0006541": "epidermolysis bullosa", "MONDO:0004957": "mucinous adenocarcinoma", "MONDO:0002203": "constipation disorder", "MONDO:0003019": "potassium deficiency disease", "MONDO:0001062": "pyloric antrum cancer", "MONDO:0003035": "ovarian angiosarcoma", "MONDO:0020800": "demyelinating disease of central nervous system", "MONDO:0005187": "human herpesvirus 8 infection", "MONDO:0001602": "labia minora carcinoma", "MONDO:0022444": "amyloidosis bronchopulmonary", "MONDO:0200000": "uterine ligament adenosarcoma", "MONDO:0004842": "stomatitis", "MONDO:0000368": "extrapulmonary tuberculosis", "MONDO:0003025": "conventional angiosarcoma", "MONDO:0005367": "heroin dependence", "MONDO:0005584": "congenital left-sided heart lesions", "MONDO:0044337": "stromal sarcoma", "MONDO:0002791": "large cell medulloblastoma", "MONDO:0043195": "rubinstein taybi like syndrome", "MONDO:0003027": "thyroid gland angiosarcoma", "MONDO:0000989": "mumps infectious disease", "MONDO:0001800": "equatorial staphyloma", "MONDO:0006208": "fallopian tube serous adenocarcinoma", "MONDO:0023142": "fetal brain disruption sequence", "MONDO:0000060": "microcephalic osteodysplastic primordial dwarfism", "MONDO:0004387": "luteoma of pregnancy", "MONDO:0006721": "de Quervain disease", "MONDO:0021089": "peripheral nervous system cancer", "MONDO:0001464": "sigmoid colon cancer", "MONDO:0002513": "kidney benign neoplasm", "MONDO:0001977": "ureteral lymphoma", "MONDO:0044912": "metastatic malignant neoplasm in the spinal cord", "MONDO:0006727": "diastolic heart failure", "MONDO:0000948": "xerophthalmia", "MONDO:0001315": "neurocirculatory asthenia", "MONDO:0005483": "chemotherapy-induced alopecia", "MONDO:0003148": "SM-AHNMD", "MONDO:0006935": "pulmonary subvalvular stenosis", "MONDO:0011786": "allergic rhinitis", "MONDO:0006794": "hypersensitivity vasculitis", "MONDO:0015750": "amelogenesis imperfecta-gingival hyperplasia syndrome", "MONDO:0003518": "mediastinum teratoma", "MONDO:0002797": "childhood medulloblastoma", "MONDO:0002621": "extraosseous osteosarcoma", "MONDO:0003647": "atrophic flaccid tympanic membrane", "MONDO:0020679": "conductive hearing loss disorder", "MONDO:0002380": "myoepithelial tumor", "MONDO:0044996": "cerebral cortex disease", "MONDO:0004456": "cocaine abuse", "MONDO:0021932": "infection by Trypanosoma gambiense", "MONDO:0006241": "hepatic granuloma", "MONDO:0000769": "chicken egg allergy", "MONDO:0025488": "leukemia, feline", "MONDO:0002418": "ethmoid sinus adenocarcinoma", "MONDO:0006868": "neurogenic bowel", "MONDO:0005441": "otitis media (disease)", "MONDO:0003735": "central nervous system immature teratoma", "MONDO:0020764": "carcinoma, Brown-Pearce", "MONDO:0043141": "microdontia hypodontia short stature", "MONDO:0000773": "Timothy grass allergy", "MONDO:0007065": "adenosine deaminase, elevated, hemolytic anemia due to", "MONDO:0002194": "vestibular papilloma", "MONDO:0011438": "acne (disease)", "MONDO:0024648": "optic tract meningioma", "MONDO:0021329": "carcinoma of soft palate", "MONDO:0005133": "endometriosis (disease)", "MONDO:0007015": "viral meningitis", "MONDO:0006309": "mucinous gastric adenocarcinoma", "MONDO:0023208": "Fuqua Berkovitz syndrome", "MONDO:0006104": "benign carotid body paraganglioma", "MONDO:0005407": "childhood eosinophilic esophagitis", "MONDO:0023149": "infection due to clostridium perfringens", "MONDO:0005461": "endometrium adenocarcinoma", "MONDO:0003686": "apocrine sweat gland neoplasm", "MONDO:0001860": "folic acid deficiency anemia", "MONDO:0003052": "granulomatous endometritis", "MONDO:0004210": "colonic L-cell glucagon-like peptide producing tumor", "MONDO:0020701": "brachydactyly type A1A", "MONDO:0003042": "adult mesenchymal chondrosarcoma", "MONDO:0003806": "thyroid hyalinizing trabecular adenoma", "MONDO:0000400": "mixed cerebral palsy", "MONDO:0000346": "Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type", "MONDO:0021290": "carcinoma in situ of appendix", "MONDO:0019511": "autosomal dominant medullary cystic kidney disease with hyperuricemia", "MONDO:0025062": "encephalomyelitis, enzootic porcine", "MONDO:0004813": "tuberculous pneumothorax", "MONDO:0010372": "Clark-Baraitser syndrome", "MONDO:0004040": "urinary bladder inverted papilloma", "MONDO:0006087": "appendix adenocarcinoma", "MONDO:0005285": "kidney stone", "MONDO:0002118": "urinary system disease", "MONDO:0025061": "edema disease of swine", "MONDO:0020642": "polycystic kidney disease", "MONDO:0006255": "intimal sarcoma", "MONDO:0005257": "advanced heart failure", "MONDO:0004087": "basaloid large cell lung carcinoma", "MONDO:0003328": "fallopian tube adenomatoid tumor", "MONDO:0044885": "tonsillar lipoma", "MONDO:0001475": "neutropenia", "MONDO:0021166": "inflammatory disease", "MONDO:0015068": "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade", "MONDO:0021039": "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor", "MONDO:0001094": "residual stage of open angle glaucoma", "MONDO:0005287": "developmental disability", "MONDO:0041825": "bacterial meningitis caused by gram-negative bacteria", "MONDO:0004153": "childhood central nervous system embryonal carcinoma", "MONDO:0004787": "cervical mullerian papilloma", "MONDO:0002570": "high pressure neurological syndrome", "MONDO:0002369": "cystadenoma", "MONDO:0023809": "Milner-Khallouf-Gibson syndrome", "MONDO:0000916": "intestinal infectious disease", "MONDO:0022699": "cerebral palsy spastic hemiplegic", "MONDO:0003460": "clear cell adenofibroma", "MONDO:0005159": "prostate carcinoma", "MONDO:0003082": "filamentary keratitis", "MONDO:0004707": "anal canal carcinoma in situ", "MONDO:0023061": "enamel hypoplasia cataract hydrocephaly", "MONDO:0021453": "benign neoplasm of retina", "MONDO:0044768": "vagus nerve paraganglioma", "MONDO:0006464": "thyroid gland mucosa-associated lymphoid tissue lymphoma", "MONDO:0025113": "poultry disease", "MONDO:0005122": "Pectobacterium carotovorum infection", "MONDO:0002150": "hypothalamic disease", "MONDO:0002924": "smooth muscle cancer", "MONDO:0002647": "laryngitis", "MONDO:0003383": "fallopian tube clear cell adenocarcinoma", "MONDO:0024649": "optic tract astrocytoma", "MONDO:0024630": "defective phagocytic cell chemotaxis", "MONDO:0005751": "epidemic pleurodynia", "MONDO:0021517": "benign neoplasm of trachea", "MONDO:0002116": "malignant exocrine pancreas neoplasm", "MONDO:0020675": "ischemic bowel disease", "MONDO:0042717": "Saul-Wilkes-Stevenson syndrome", "MONDO:0004698": "intestine carcinoma in situ", "MONDO:0012048": "endogenous depression", "MONDO:0001998": "Foster-Kennedy syndrome", "MONDO:0002734": "anal mucinous adenocarcinoma", "MONDO:0021764": "acrofacial dysostosis preis type", "MONDO:0001441": "pica disease", "MONDO:0010138": "thyrotoxicosis", "MONDO:0006220": "gallbladder squamous cell carcinoma", "MONDO:0003830": "type 1 papillary adenoma of the kidney", "MONDO:0021156": "hypophysitis", "MONDO:0001019": "suppression amblyopia", "MONDO:0006741": "encephalomalacia", "MONDO:0000682": "time agnosia", "MONDO:0023571": "Kozlowski Rafinski Klicharska syndrome", "MONDO:0006245": "hidradenocarcinoma", "MONDO:0022519": "autoimmune myocarditis", "MONDO:0005756": "ethmoid sinusitis", "MONDO:0003465": "fibrous synovial sarcoma", "MONDO:0001429": "transient arthropathy", "MONDO:0005414": "treatment-refractory schizophrenia", "MONDO:0021076": "pancreatic exocrine neoplasm", "MONDO:0025505": "mink viral enteritis", "MONDO:0010071": "spondyloenchondrodysplasia", "MONDO:0044746": "zoonotic bacterial infection", "MONDO:0006786": "hepatic vein thrombosis", "MONDO:0000380": "paranasal sinus carcinoma", "MONDO:0002057": "breast leiomyoma", "MONDO:0025013": "non-human primate disease", "MONDO:0004526": "mixed endometrial stromal and smooth muscle tumor", "MONDO:0010301": "THCYTX", "MONDO:0004237": "large cell carcinoma with rhabdoid phenotype", "MONDO:0022803": "coloboma porencephaly hydronephrosis", "MONDO:0022977": "diaphragmatic hernia exomphalos corpus callosum agenesis", "MONDO:0006832": "limited scleroderma", "MONDO:0005832": "lymphangitis", "MONDO:0001004": "slate pneumoconiosis", "MONDO:0025082": "helminthiasis, animal", "MONDO:0001292": "autonomic nervous system disease", "MONDO:0021195": "disease by cellular process disrupted", "MONDO:0006254": "intestinal type adenocarcinoma", "MONDO:0021017": "synaptopathy", "MONDO:0002029": "chronic gonorrhea of cervix", "MONDO:0001237": "appendix lymphoma", "MONDO:0022620": "CD4 deficiency", "MONDO:0002896": "primary syphilis", "MONDO:0004037": "retinal edema", "MONDO:0004169": "premenstrual tension", "MONDO:0025420": "gastroenteritis, transmissible, of swine", "MONDO:0025100": "mastitis, bovine", "MONDO:0022971": "diabetes persistent mullerian ducts", "MONDO:0003611": "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease", "MONDO:0003958": "childhood central nervous system immature teratoma", "MONDO:0020685": "infratentorial ependymal tumor", "MONDO:0004736": "inherited amino acid metabolic disorder", "MONDO:0005040": "germ cell tumor", "MONDO:0001852": "small intestine lymphoma", "MONDO:0021335": "carcinoma of duodenum", "MONDO:0006600": "pigmentation disease", "MONDO:0001290": "allergic cutaneous vasculitis", "MONDO:0001711": "hepatic encephalopathy", "MONDO:0023521": "Judge Misch wright syndrome", "MONDO:0021221": "vestibulocochlear nerve neoplasm", "MONDO:0006883": "malignant superior sulcus neoplasm", "MONDO:0002402": "malignant giant cell tumor", "MONDO:0000791": "carp allergy", "MONDO:0003889": "infiltrating bladder urothelial carcinoma, clear cell variant", "MONDO:0004159": "pancreatic non-invasive mucinous cystadenocarcinoma", "MONDO:0003645": "cavernous hemangioma of face", "MONDO:0020525": "transient neonatal diabetes mellitus (disease)", "MONDO:0001869": "paraurethral gland cancer", "MONDO:0002837": "sarcomatoid transitional cell carcinoma", "MONDO:0002279": "iron metabolism disease", "MONDO:0018297": "hypotonia-speech impairment-severe cognitive delay syndrome", "MONDO:0003436": "lung oat cell carcinoma", "MONDO:0000660": "akinetopsia", "MONDO:0001397": "mononeuropathy", "MONDO:0043116": "iida kannari syndrome", "MONDO:0006654": "anthracosis", "MONDO:0100001": "alpha-gal syndrome", "MONDO:0043519": "burn", "MONDO:0000471": "tricuspid valve disease", "MONDO:0001003": "pneumoconiosis due to talc", "MONDO:0006202": "extrahepatic bile duct adenosquamous carcinoma", "MONDO:0021249": "lip neoplasm", "MONDO:0024414": "anaerobic cellulitis", "MONDO:0006893": "Pasteurella hemorrhagic septicemia", "MONDO:0043179": "piepkorn karp hickok syndrome", "MONDO:0002843": "fungal gastritis", "MONDO:0001416": "female reproductive organ cancer", "MONDO:0042495": "arteriosclerotic retinopathy", "MONDO:0024361": "circadian rhythm sleep disorder", "MONDO:0024673": "skin lymphangioma", "MONDO:0006833": "lingual goiter", "MONDO:0024965": "muscular dystrophy, non-human animal", "MONDO:0002990": "benign deep fibrous histiocytoma", "MONDO:0024431": "bilirubin metabolism disease", "MONDO:0003400": "childhood endodermal sinus tumor", "MONDO:0000384": "bladder benign neoplasm", "MONDO:0027026": "Buschke Lowenstein tumor", "MONDO:0004211": "L-cell glucagon-like peptide-producing neuroendocrine tumor", "MONDO:0003150": "male reproductive system disease", "MONDO:0004710": "uterus carcinoma in situ", "MONDO:0004507": "atypical breast papilloma", "MONDO:0022812": "complement receptor deficiency", "MONDO:0044878": "adult germ cell tumor", "MONDO:0005479": "atrial tachycardia", "MONDO:0006933": "pulmonary plasma cell granuloma", "MONDO:0016251": "salivary gland type cancer of the breast", "MONDO:0002813": "lipomatous cancer", "MONDO:0003976": "malignant type AB thymoma", "MONDO:0006462": "thyroid gland diffuse large B-cell lymphoma", "MONDO:0021845": "Aloi Tomasini Isaia syndrome", "MONDO:0022424": "alpha-mannosidosis type 1", "MONDO:0004236": "duodenal somatostatinoma", "MONDO:0002453": "retrocochlear disease", "MONDO:0000982": "Brown's tendon sheath syndrome", "MONDO:0000147": "polyposis", "MONDO:0003480": "pineal region dysgerminoma", "MONDO:0003926": "neurilemmoma of the pleura", "MONDO:0003736": "cancerophobia", "MONDO:0042487": "uterine cervix carcinoma in situ", "MONDO:0003282": "ovarian cyst (disease)", "MONDO:0001892": "spinal cord lymphoma", "MONDO:0000589": "autoimmune disease of musculoskeletal system", "MONDO:0006429": "splenic hodgkin lymphoma", "MONDO:0006098": "atypical lobular breast hyperplasia", "MONDO:0001227": "chronic tympanitis", "MONDO:0003743": "heart malignant hemangiopericytoma", "MONDO:0005354": "chronic hepatitis C infection", "MONDO:0003333": "benign struma ovarii", "MONDO:0022398": "aglossia and situs inversus", "MONDO:0006185": "ductal or ductular proliferation", "MONDO:0022869": "coronary arteries congenital malformation", "MONDO:0003064": "inverted transitional cell papilloma", "MONDO:0006770": "giant cell reparative granuloma", "MONDO:0005307": "contracture", "MONDO:0025155": "hemorrhagic syndrome, bovine", "MONDO:0002036": "penile disease", "MONDO:0002306": "angular blepharoconjunctivitis", "MONDO:0001585": "hallucinogen abuse", "MONDO:0006219": "gallbladder small cell neuroendocrine carcinoma", "MONDO:0006060": "nasopharyngeal squamous cell carcinoma", "MONDO:0022608": "brittle bone syndrome lethal type", "MONDO:0021479": "benign neoplasm of oropharynx", "MONDO:0020797": "decompression sickness", "MONDO:0044800": "desmoplastic spitz nevus", "MONDO:0006765": "Fusobacterium infectious disease", "MONDO:0001753": "female infertility of uterine origin", "MONDO:0023212": "Garret-Tripp syndrome", "MONDO:0006448": "testicular teratoma (disease)", "MONDO:0000524": "mixed extragonadal germ cell cancer", "MONDO:0000286": "Epstein-Barr virus hepatitis", "MONDO:0005119": "anthrax infection", "MONDO:0000214": "hypermanganesemia with dystonia", "MONDO:0006076": "adrenal gland neuroblastoma", "MONDO:0003497": "renal pelvis squamous cell carcinoma", "MONDO:0003702": "uterus intravascular leiomyomatosis", "MONDO:0022934": "Davis Lafer syndrome", "MONDO:0005967": "splenic tuberculosis", "MONDO:0006159": "colorectal gastrointestinal stromal tumor", "MONDO:0002128": "mononeuritis multiplex", "MONDO:0005695": "central nervous system AIDS arteritis", "MONDO:0021670": "post-infectious syndrome", "MONDO:0021080": "blood vessel neoplasm", "MONDO:0002806": "bronchogenic carcinoma", "MONDO:0003716": "renal pelvis papillary urothelial carcinoma", "MONDO:0016895": "partial monosomy of the short arm of chromosome 17", "MONDO:0004206": "pulmonary vein leiomyosarcoma", "MONDO:0002403": "synovium cancer", "MONDO:0023094": "exogenous ochronosis", "MONDO:0003422": "lung adenoma", "MONDO:0004264": "acute gonococcal endometritis", "MONDO:0006367": "pharyngeal adenoid cystic carcinoma", "MONDO:0006347": "pancreatic large cell neuroendocrine carcinoma", "MONDO:0000669": "color agnosia", "MONDO:0006968": "shoulder impingement syndrome", "MONDO:0021501": "benign neoplasm of small intestine", "MONDO:0006556": "hand dermatosis", "MONDO:0021464": "benign neoplasm of cecum", "MONDO:0002949": "morpheaform basal cell carcinoma", "MONDO:0005460": "swine influenza", "MONDO:0004478": "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma", "MONDO:0006670": "bacterial meningitis", "MONDO:0023031": "dysostosis acral with facial and genital abnormalities", "MONDO:0005041": "glaucoma (disease)", "MONDO:0043193": "richieri-costa guion-almeida cohen syndrome", "MONDO:0023089": "erythroplakia", "MONDO:0005487": "schizoaffective disorder", "MONDO:0005218": "muscular disease", "MONDO:0005261": "pervasive developmental disorder - not otherwise specified", "MONDO:0044333": "alcohol-induced Wernicke-Korsakoff's syndrome", "MONDO:0004103": "tall cell variant thyroid gland papillary carcinoma", "MONDO:0001515": "corneal degeneration", "MONDO:0004077": "lumbosacral lipoma", "MONDO:0002778": "epidural spinal canal meningioma", "MONDO:0021203": "serous otitis media", "MONDO:0000804": "white shrimp allergy", "MONDO:0006281": "lung signet ring cell carcinoma", "MONDO:0004060": "peripheral epithelioid sarcoma", "MONDO:0003444": "intrahepatic bile duct adenoma", "MONDO:0003257": "posterior pituitary gland neoplasm", "MONDO:0001141": "middle ear cholesterol granuloma", "MONDO:0005082": "prostate adenocarcinoma", "MONDO:0000288": "polycystic echinococcosis", "MONDO:0001351": "uterine adnexa cancer", "MONDO:0007006": "ulnar neuropathy", "MONDO:0037738": "cauda equina cancer", "MONDO:0001242": "disseminated intravascular coagulation in newborn", "MONDO:0004439": "periocular meningioma", "MONDO:0002824": "extrinsic cardiomyopathy", "MONDO:0021009": "salivary gland mucoepidermoid carcinoma", "MONDO:0001479": "cutaneous diphtheria", "MONDO:0001049": "Dressler syndrome", "MONDO:0001066": "late yaws", "MONDO:0002408": "hereditary hyperbilirubinemia", "MONDO:0003428": "brain hemangioma", "MONDO:0002227": "ovarian lymphoma", "MONDO:0043310": "amaurosis fugax", "MONDO:0022791": "coarse face hypotonia constipation", "MONDO:0100002": "food protein-induced allergic proctocolitis", "MONDO:0004639": "perinatal necrotizing enterocolitis", "MONDO:0021008": "secondary antiphospholipid syndrome", "MONDO:0060777": "cervical fibroepithelial polyp", "MONDO:0024639": "gastric enterochromaffin cell serotonin-producing neuroendocrine tumor", "MONDO:0021068": "ovarian neoplasm", "MONDO:0001008": "blepharophimosis (disease)", "MONDO:0006450": "therapy-related myeloid neoplasm", "MONDO:0025377": "African swine fever", "MONDO:0006272": "low grade fibromyxoid sarcoma", "MONDO:0024382": "circadian rhythm sleep disorder, shift work type", "MONDO:0000930": "nodular malignant melanoma", "MONDO:0002304": "protein S deficiency", "MONDO:0003603": "non-functioning pituitary gland neoplasm", "MONDO:0024474": "intraepithelial neoplasia", "MONDO:0024888": "mesonephric neoplasm", "MONDO:0002028": "personality disorder (disease)", "MONDO:0004767": "vesiculitis", "MONDO:0021312": "malignant tumor of adrenal cortex", "MONDO:0008897": "hyperphosphatemic familial tumoral calcinosis", "MONDO:0004888": "partial circumpapillary choroid dystrophy", "MONDO:0022749": "non-neoplastic nevus", "MONDO:0022896": "craniosynostosis contractures cleft", "MONDO:0004541": "pseudoglandular variant testicular seminoma", "MONDO:0020680": "acute bronchiolitis", "MONDO:0024277": "neonatal thrombocytopenia", "MONDO:0000487": "hemidystonia", "MONDO:0001994": "sphenoidal sinus cancer", "MONDO:0000173": "muscular dystrophy-dystroglycanopathy, type C", "MONDO:0005970": "staphylococcal pneumonia", "MONDO:0003801": "corneal intraepithelial neoplasm", "MONDO:0002045": "communicating hydrocephalus", "MONDO:0005395": "movement disorder", "MONDO:0002790": "seminal vesicle tumor", "MONDO:0002757": "acute allergic sanguinous otitis media", "MONDO:0006743": "endocrine tuberculosis", "MONDO:0002055": "benign eccrine breast spiradenoma", "MONDO:0006982": "subacute thyroiditis", "MONDO:0005476": "atrioventricular node disease", "MONDO:0004880": "bowel dysfunction", "MONDO:0002959": "radiculopathy", "MONDO:0002226": "tuberculous oophoritis", "MONDO:0001221": "esophageal varices", "MONDO:0009314": "GTP-cyclohydrolase I deficiency", "MONDO:0001917": "chronic perichondritis of pinna", "MONDO:0002737": "acute sanguinous otitis media", "MONDO:0001235": "appendix cancer", "MONDO:0003283": "epididymal neoplasm", "MONDO:0003081": "thalamic disease", "MONDO:0001683": "pancreatic mucinous ductal ectasia", "MONDO:0045072": "ectopic hormone secretion syndrome associated with neoplasia", "MONDO:0005977": "tabes dorsalis", "MONDO:0042494": "childhood malignant melanoma", "MONDO:0001743": "paranasal sinus lymphoma", "MONDO:0003728": "breast fibrosarcoma", "MONDO:0003105": "prostate disease", "MONDO:0003648": "tympanic membrane disease", "MONDO:0002117": "pancreas sarcoma", "MONDO:0001110": "chronic pyelonephritis", "MONDO:0000634": "thoracic benign neoplasm", "MONDO:0002926": "clear cell sarcoma", "MONDO:0021373": "neoplasm of parietal lobe", "MONDO:0022636": "candida glabrata", "MONDO:0003904": "lung occult squamous cell carcinoma", "MONDO:0005742": "emphysematous cholecystitis", "MONDO:0044874": "refractory cytopenia of childhood", "MONDO:0025513": "autoimmune urticaria", "MONDO:0003782": "uterine corpus epithelioid leiomyosarcoma", "MONDO:0002239": "post-surgical hypoinsulinemia", "MONDO:0100013": "paratenonitis with tendinosis", "MONDO:0002033": "cecum cancer", "MONDO:0004263": "pediatric infratentorial ependymoblastoma", "MONDO:0003720": "kidney fibrosarcoma", "MONDO:0001658": "nontoxic goiter", "MONDO:0044715": "metopic ridging-ptosis-facial dysmorphism syndrome", "MONDO:0002619": "bone fibrosarcoma", "MONDO:0002342": "chondromalacia", "MONDO:0001629": "Jaccoud syndrome", "MONDO:0006698": "cholecystolithiasis", "MONDO:0000588": "autoimmune disease of gastrointestinal tract", "MONDO:0006564": "irritant dermatitis", "MONDO:0021739": "prurigo", "MONDO:0023059": "Elliott ludman Teebi syndrome", "MONDO:0002633": "cranial nerve neoplasm", "MONDO:0005556": "lupus nephritis", "MONDO:0002732": "lung benign neoplasm", "MONDO:0021309": "malignant neoplasm of endocervix", "MONDO:0020843": "pseudomembranous diphtheritic conjunctivitis", "MONDO:0004826": "urethral calculus", "MONDO:0005001": "chronic gastritis (disease)", "MONDO:0021633": "cerebral astrocytoma", "MONDO:0020582": "benign uterine ligament neoplasm", "MONDO:0001273": "megacolon", "MONDO:0002068": "female breast lower-inner quadrant cancer", "MONDO:0002313": "vernal conjunctivitis", "MONDO:0002874": "testicular pure germ cell tumor", "MONDO:0000591": "intrinsic cardiomyopathy", "MONDO:0002694": "cavernous sinus thrombosis", "MONDO:0021944": "auditory neuropathy", "MONDO:0020989": "hereditary persistence of fetal hemoglobin", "MONDO:0024675": "adult kidney Wilms tumor", "MONDO:0006857": "middle cerebral artery infarction", "MONDO:0006780": "heartwater disease", "MONDO:0005811": "infectious myxomatosis", "MONDO:0000497": "pyometritis", "MONDO:0004099": "adult cystic teratoma", "MONDO:0003336": "acute necrotizing encephalitis", "MONDO:0006291": "malignant jugulotympanic paraganglioma", "MONDO:0021327": "carcinoma of urethra", "MONDO:0023016": "duplication of leg mirror foot", "MONDO:0010204": "lysosomal acid lipase deficiency", "MONDO:0003401": "central nervous system endodermal sinus tumor", "MONDO:0006570": "lichen disease", "MONDO:0004512": "meningeal melanomatosis", "MONDO:0006544": "erythema infectiosum", "MONDO:0037744": "neoplasm of retromolar area", "MONDO:0004671": "penis carcinoma in situ", "MONDO:0001409": "esophagitis (disease)", "MONDO:0002064": "breast angiomatosis", "MONDO:0020773": "cerebrospinal fluid rhinorrhea", "MONDO:0003386": "bladder clear cell adenocarcinoma", "MONDO:0021246": "pharynx neoplasm", "MONDO:0008448": "spheroid body myopathy", "MONDO:0006682": "brachial plexus neuritis", "MONDO:0005920": "Plasmodium falciparum malaria", "MONDO:0000681": "tactile agnosia", "MONDO:0006971": "sigmoid neoplasm", "MONDO:0000723": "stutter disorder", "MONDO:0021205": "disease of ear", "MONDO:0004110": "refractory hairy cell leukemia", "MONDO:0005325": "radius fracture", "MONDO:0003808": "mediastinal extraskeletal osteosarcoma", "MONDO:0056813": "hormone-resistant breast carcinoma", "MONDO:0024665": "indeterminate sex and/or pseudohermaphroditism", "MONDO:0006452": "thymic sarcomatoid carcinoma", "MONDO:0002245": "blood platelet disease", "MONDO:0018888": "congenital cornea plana", "MONDO:0044879": "pancreatic mucinous-cystic neoplasm", "MONDO:0002657": "breast disease", "MONDO:0001322": "pericardium cancer", "MONDO:0002060": "intraductal papilloma", "MONDO:0002487": "breast granular cell tumor", "MONDO:0002887": "bile duct disease", "MONDO:0023646": "lipodermatosclerosis", "MONDO:0001512": "intermittent proptosis", "MONDO:0022557": "behrens baumann dust syndrome", "MONDO:0036779": "axillary neoplasm", "MONDO:0014834": "dyskinesia, limb and orofacial, infantile-onset", "MONDO:0005154": "liver disease", "MONDO:0001374": "bladder sarcoma", "MONDO:0022236": "colpocephaly", "MONDO:0001296": "acquired night blindness", "MONDO:0004122": "thymus small cell carcinoma", "MONDO:0004197": "male urethral cancer", "MONDO:0006284": "major salivary gland carcinoma", "MONDO:0004043": "ureter inverted papilloma", "MONDO:0005405": "childhood onset asthma", "MONDO:0005096": "squamous cell carcinoma", "MONDO:0043606": "pathologic fracture", "MONDO:0000807": "latex allergy", "MONDO:0018303": "generalized isolated dystonia", "MONDO:0041535": "mesenteric lymphadenitis due to Yersinia infection", "MONDO:0022572": "bilateral renal agenesis dominant type", "MONDO:0044870": "acquired torsion dystonia", "MONDO:0002551": "c-P angle neurinoma", "MONDO:0023018": "dupont sellier chochillon syndrome", "MONDO:0003431": "lipoadenoma", "MONDO:0000299": "thelaziasis", "MONDO:0003067": "cervical lymphadenitis", "MONDO:0006077": "adrenal medullary hyperplasia", "MONDO:0009332": "congenital hematological disorder", "MONDO:0001710": "perforation of bile duct", "MONDO:0021896": "anterior spinal artery stroke", "MONDO:0005627": "head and neck cancer", "MONDO:0021542": "hemangioma of choroid", "MONDO:0000828": "juvenile-onset Parkinson disease", "MONDO:0022538": "leukoplakia of gingiva", "MONDO:0006356": "parotid gland adenoid cystic carcinoma", "MONDO:0002069": "female breast axillary tail cancer", "MONDO:0005094": "hemangiopericytoma", "MONDO:0004726": "liver inflammatory myofibroblastic tumor", "MONDO:0006577": "maxillary sinus cholesteatoma", "MONDO:0000577": "congenital anemia", "MONDO:0002041": "fungal infectious disease", "MONDO:0004240": "posterior urethra cancer", "MONDO:0022603": "brachydactyly tibial hypoplasia", "MONDO:0018819": "fibular aplasia-tibial campomelia-oligosyndactyly syndrome", "MONDO:0006325": "ocular melanoma", "MONDO:0001364": "regular astigmatism", "MONDO:0005518": "pseudohermaphroditism", "MONDO:0013600": "insomnia (disease)", "MONDO:0004304": "mixed cell type adenoma of parathyroid", "MONDO:0005065": "mesothelioma", "MONDO:0024677": "pancreatic insulinoma", "MONDO:0001239": "anemia of prematurity", "MONDO:0021652": "diffuse type adenocarcinoma", "MONDO:0022551": "Basedow's coma", "MONDO:0024863": "small size posterior uveal melanoma", "MONDO:0024889": "benign mesonephroma", "MONDO:0021681": "sexually transmitted disease", "MONDO:0002233": "enamel caries", "MONDO:0001624": "acute sphenoidal sinusitis", "MONDO:0045038": "cutaneous basidiobolomycosis", "MONDO:0021905": "apert-like polydactyly syndrome", "MONDO:0004321": "endometrial mixed adenocarcinoma", "MONDO:0002604": "pericytic neoplasm", "MONDO:0003060": "biliary tract cancer", "MONDO:0022330": "4-hydroxyphenylacetic aciduria", "MONDO:0002350": "familial nephrotic syndrome", "MONDO:0041161": "endometrial hyperplasia", "MONDO:0006827": "lateral medullary syndrome", "MONDO:0006267": "liver cavernous hemangioma", "MONDO:0003412": "retroperitoneal hemangiopericytoma", "MONDO:0006107": "benign thyroid gland neoplasm", "MONDO:0022862": "cormier rustin munnich syndrome", "MONDO:0044972": "eosinophil disease", "MONDO:0024429": "Alice in wonderland syndrome", "MONDO:0001621": "tick-borne relapsing fever", "MONDO:0003000": "central nervous system germ cell tumor", "MONDO:0004852": "gonococcal keratitis", "MONDO:0005667": "biliary dyskinesia", "MONDO:0005149": "pulmonary hypertension", "MONDO:0006029": "cecum carcinoma", "MONDO:0043166": "pancreatic lipomatosis duodenal stenosis", "MONDO:0003572": "nasopharyngeal type undifferentiated carcinoma", "MONDO:0024286": "benign blood vessel neoplasm", "MONDO:0022643": "carcinoma of the vocal tract", "MONDO:0002051": "integumentary system disease", "MONDO:0015398": "hemifacial microsomia", "MONDO:0021902": "aortopulmonary window", "MONDO:0005971": "staphyloenterotoxemia", "MONDO:0000973": "external ear lipoma", "MONDO:0003097": "childhood mediastinal neurogenic neoplasm", "MONDO:0006458": "thymoma type B3", "MONDO:0006012": "viral pneumonia", "MONDO:0003076": "unilateral retinoblastoma", "MONDO:0009100": "IDDM 1", "MONDO:0023726": "mediastinal yolk sac tumor", "MONDO:0003998": "vaginal tubular adenoma", "MONDO:0003598": "median nerve neuropathy", "MONDO:0022208": "crystal arthropathy", "MONDO:0006374": "placental choriocarcinoma", "MONDO:0003843": "cerebral hemisphere lipoma", "MONDO:0006620": "vulva fibroepithelial polyp", "MONDO:0003641": "central nervous system hematopoietic neoplasm", "MONDO:0004109": "epiglottis neoplasm", "MONDO:0002751": "bladder adenocarcinoma", "MONDO:0024412": "Peptostreptococcus infectious disease", "MONDO:0000466": "first-degree atrioventricular block", "MONDO:0015077": "adrenal/paraganglial tumor", "MONDO:0004128": "lung occult large cell carcinoma", "MONDO:0001433": "vaginal disease", "MONDO:0041656": "ST-elevation myocardial infarction", "MONDO:0001085": "interstitial nephritis", "MONDO:0000761": "syndrome caused by partial chromosomal deletion", "MONDO:0000382": "respiratory system benign neoplasm", "MONDO:0002263": "female reproductive system disease", "MONDO:0001685": "chronic follicular conjunctivitis", "MONDO:0005658": "Astroviridae infectious disease", "MONDO:0006988": "sulfhemoglobinemia", "MONDO:0045012": "steroid metabolism disease", "MONDO:0021459": "benign neoplasm of esophagus", "MONDO:0005280": "prostatitis (disease)", "MONDO:0022607": "extraovarian Brenner tumor of the vagina", "MONDO:0024627": "phagocytic cell dysfunction", "MONDO:0025491": "feline infectious peritonitis", "MONDO:0003145": "supratentorial primitive neuroectodermal tumor", "MONDO:0020272": "connective tissue disease with eye involvement", "MONDO:0002549": "schwannoma of twelfth cranial nerve", "MONDO:0003609": "seminal vesicle cystadenoma", "MONDO:0003590": "fibroblastic liposarcoma", "MONDO:0022655": "cardiomyopathy hypogonadism metabolic anomalies", "MONDO:0004298": "stomach disease", "MONDO:0001050": "malignant otitis externa", "MONDO:0005906": "peritonsillar abscess", "MONDO:0001643": "exophthalmic ophthalmoplegia", "MONDO:0043549": "crush syndrome", "MONDO:0006730": "drug psychosis", "MONDO:0022615": "burn goodship syndrome", "MONDO:0024345": "pityriasis streptogenes", "MONDO:0003638": "lung meningioma", "MONDO:0003754": "Brown-Sequard syndrome", "MONDO:0006197": "endometrial small cell carcinoma", "MONDO:0004108": "diaphragma sellae meningioma", "MONDO:0001827": "white piedra", "MONDO:0003546": "third cranial nerve disease", "MONDO:0003326": "intermixed schwannian stroma-rich ganglioneuroblastoma", "MONDO:0004803": "disseminated eosinophilic collagen disease", "MONDO:0002152": "intermittent squint", "MONDO:0001183": "contact lens corneal edema", "MONDO:0018139": "scleredema", "MONDO:0018337": "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency", "MONDO:0006256": "invasive breast carcinoma", "MONDO:0024876": "tendon sheath disorder", "MONDO:0006032": "cystitis", "MONDO:0043083": "coronal synostosis, syndactyly and jejunal atresia", "MONDO:0003281": "ovarian cystic teratoma", "MONDO:0004689": "inborn metal metabolism disorder", "MONDO:0004863": "purulent endophthalmitis", "MONDO:0001894": "spinal cord sarcoma", "MONDO:0001044": "esophageal atresia (disease)", "MONDO:0002676": "adult fibrosarcoma", "MONDO:0004295": "asbestos-related lung carcinoma", "MONDO:0000743": "oral hairy leukoplakia", "MONDO:0005975": "suppurative otitis media", "MONDO:0008449": "spina bifida (disease)", "MONDO:0001434": "inflammatory spondylopathy", "MONDO:0002542": "spinal cord glioma", "MONDO:0005236": "xanthoma (disease)", "MONDO:0006901": "peritoneal neoplasm", "MONDO:0004182": "stage IVb bladder cancer", "MONDO:0003057": "pediatric meningioma", "MONDO:0005572": "polycythemia due to hypoxia", "MONDO:0006069": "ACTH-producing pituitary gland carcinoma", "MONDO:0005763": "Flaviviridae infectious disease", "MONDO:0025494": "porcine reproductive and respiratory syndrome", "MONDO:0044747": "human anaplasmosis", "MONDO:0024892": "soft tissue amyloid neoplasm", "MONDO:0003971": "gastric pylorus carcinoma", "MONDO:0001505": "alcoholic hepatitis", "MONDO:0003061": "benign muscle neoplasm", "MONDO:0005822": "latent syphilis", "MONDO:0004468": "anal canal Paget disease", "MONDO:0022687": "cerebellar degeneration", "MONDO:0020947": "parasitic eye infection", "MONDO:0006896": "peptic esophagitis", "MONDO:0014631": "hypomagnesemia, seizures, and mental retardation", "MONDO:0021372": "neoplasm of temporal lobe", "MONDO:0024333": "sciatica", "MONDO:0004372": "chronic toxic polyneuropathy", "MONDO:0020983": "myocardial rupture", "MONDO:0043862": "voice disorders", "MONDO:0021836": "Aksu von Stockhausen syndrome", "MONDO:0013861": "amyotrophic lateral sclerosis type 17", "MONDO:0006846": "malignant hypertension", "MONDO:0007749": "autosomal recessive infantile hypercalcemia", "MONDO:0005810": "infectious mononucleosis", "MONDO:0007806": "hypotrichosis 4", "MONDO:0002855": "ectomesenchymoma", "MONDO:0002942": "sebaceous basal cell carcinoma", "MONDO:0013792": "intracerebral hemorrhage", "MONDO:0002739": "extrahepatic bile duct mucinous adenocarcinoma", "MONDO:0004637": "aryepiglottic fold cancer", "MONDO:0001509": "endocrine exophthalmos", "MONDO:0001488": "anterior corneal pigmentation", "MONDO:0001060": "microinvasive gastric cancer", "MONDO:0000452": "progressive relapsing multiple sclerosis", "MONDO:0005047": "infertility disorder", "MONDO:0004166": "hereditary fallopian tube carcinoma", "MONDO:0003535": "fallopian tube papillary adenocarcinoma", "MONDO:0001553": "phacolytic glaucoma", "MONDO:0043726": "multiple organ failure", "MONDO:0002892": "skull base chordoma", "MONDO:0004366": "mixed astrocytoma-ependymoma-oligodendroglioma", "MONDO:0000799": "crustacean allergy", "MONDO:0006392": "rectal hyperplastic polyp", "MONDO:0006842": "lymphangiomyoma", "MONDO:0002565": "myelitis", "MONDO:0000686": "alexia without agraphia", "MONDO:0044956": "paranasal sinus mucoepidermoid carcinoma", "MONDO:0002177": "hyperinsulinism (disease)", "MONDO:0001610": "acute dacryocystitis", "MONDO:0021851": "alopecia universalis onychodystrophy vitiligo", "MONDO:0002787": "adamantinous craniopharyngioma", "MONDO:0000503": "lung adenocarcinoma in situ", "MONDO:0002040": "dermatomycosis", "MONDO:0003419": "Bartholin gland adenoma", "MONDO:0018786": "pontine autosomal dominant microangiopathy with leukoencephalopathy", "MONDO:0002092": "small intestine leiomyoma", "MONDO:0005066": "metabolic disease", "MONDO:0003621": "small intestinal vasoactive intestinal peptide producing tumor", "MONDO:0006708": "Desulfovibrionaceae infectious disease", "MONDO:0001410": "postmenopausal atrophic vaginitis", "MONDO:0003411": "breast hemangiopericytoma", "MONDO:0002460": "lacrimal system cancer", "MONDO:0005908": "peste des petits ruminants infectious disease", "MONDO:0002450": "prostatic adenoma", "MONDO:0004643": "myeloid leukemia", "MONDO:0001015": "eosinophilic meningitis", "MONDO:0006056": "squamous cell breast carcinoma", "MONDO:0005099": "subarachnoid hemorrhage (disease)", "MONDO:0002037": "pleural disease", "MONDO:0040673": "malignant peritoneal germ cell tumor", "MONDO:0002907": "intracranial thrombosis", "MONDO:0021469": "benign neoplasm of anus", "MONDO:0003372": "vulvar leiomyosarcoma", "MONDO:0000624": "benign female reproductive system neoplasm", "MONDO:0010195": "Weissenbacher-Zweymuller syndrome", "MONDO:0003264": "basosquamous carcinoma", "MONDO:0005819": "laryngeal tuberculosis", "MONDO:0005304": "biliary tract neoplasm (disease)", "MONDO:0001709": "hypercalcemic sarcoidosis", "MONDO:0004350": "pediatric extraocular retinoblastoma", "MONDO:0001798": "hypermobility syndrome", "MONDO:0006051": "postweaning multisystemic wasting syndrome", "MONDO:0004400": "malignant type A thymoma", "MONDO:0006312": "myofibroma", "MONDO:0002880": "ovarian adenosarcoma", "MONDO:0004648": "vascular dementia", "MONDO:0005654": "ascariasis", "MONDO:0001205": "hypersecretion glaucoma", "MONDO:0002505": "childhood astrocytic tumor", "MONDO:0000254": "cutaneous mycosis", "MONDO:0008370": "reticular dystrophy of retinal pigment epithelium", "MONDO:0000395": "alcohol-related birth defect", "MONDO:0022779": "cleft lip palate oligodontia syndactyly pili torti", "MONDO:0021064": "jugulotympanic paraganglioma", "MONDO:0016287": "adenoid basal carcinoma of the cervix uteri", "MONDO:0006229": "gastric small cell neuroendocrine carcinoma", "MONDO:0006169": "complex endometrial hyperplasia", "MONDO:0001162": "impulse control disorder", "MONDO:0005283": "retinal disease", "MONDO:0022775": "cleft lip and palate malrotation cardiopathy", "MONDO:0001053": "acute infection of pinna", "MONDO:0005134": "experimental autoimmune encephalomyelitis", "MONDO:0006218": "gallbladder biliary intraepithelial neoplasia", "MONDO:0020731": "arbovirus infection", "MONDO:0043099": "hordnes engebretsen knudtson syndrome", "MONDO:0021111": "ureter neoplasm", "MONDO:0006467": "thyroid gland squamous cell carcinoma", "MONDO:0003585": "adult liposarcoma", "MONDO:0002574": "prostate embryonal rhabdomyosarcoma", "MONDO:0043358": "engraftment syndrome", "MONDO:0003062": "intestinal benign neoplasm", "MONDO:0004527": "congenital granular cell tumor", "MONDO:0003903": "benign vaginal mixed tumor", "MONDO:0044788": "perihilar intrahepatic cholangiocarcinoma", "MONDO:0004459": "bladder hepatoid adenocarcinoma", "MONDO:0001356": "iron deficiency anemia", "MONDO:0002240": "acute perichondritis of pinna", "MONDO:0001204": "esophagus sarcoma", "MONDO:0004326": "sphenoid sinus inverted papilloma", "MONDO:0002916": "brainstem intraparenchymal clear cell meningioma", "MONDO:0002798": "childhood central nervous system primitive neuroectodermal neoplasm", "MONDO:0001495": "hematocele of tunica vaginalis testis", "MONDO:0005146": "post-traumatic stress disorder", "MONDO:0022989": "diomedi bernardi placidi syndrome", "MONDO:0001250": "keratomalacia", "MONDO:0037829": "purine metabolism disease", "MONDO:0001955": "protozoal dysentery", "MONDO:0002748": "rectum mucinous adenocarcinoma", "MONDO:0000977": "chondroid lipoma", "MONDO:0002336": "inflammatory and toxic neuropathy", "MONDO:0006553": "Fox-Fordyce disease", "MONDO:0003550": "esophageal adenosquamous carcinoma", "MONDO:0004376": "infiltrating nipple syringomatous adenoma", "MONDO:0023019": "dwarfism bluish sclerae", "MONDO:0004949": "neoplasm of mature B-cells", "MONDO:0006265": "laryngeal small cell carcinoma", "MONDO:0016275": "adenocarcinoma of cervix uteri", "MONDO:0006619": "viral exanthem", "MONDO:0010143": "lethal restrictive dermopathy", "MONDO:0021138": "bone marrow cancer", "MONDO:0002352": "larynx cancer", "MONDO:0025381": "avian leukosis", "MONDO:0004877": "transient neonatal thrombocytopenia", "MONDO:0003251": "esophageal granular cell tumor", "MONDO:0044783": "solid papillary breast carcinoma", "MONDO:0000871": "T-cell childhood acute lymphocytic leukemia", "MONDO:0001368": "phthisical cornea", "MONDO:0002108": "thyroid cancer", "MONDO:0014554": "infantile multisystem neurologic-endocrine-pancreatic disease", "MONDO:0005559": "neurodegenerative disease", "MONDO:0001662": "right bundle branch block (disease)", "MONDO:0005525": "T-cell leukemia", "MONDO:0060722": "neurodevelopmental disorder with brain, liver, and lung abnormalities", "MONDO:0021253": "gallbladder neoplasm", "MONDO:0024359": "central sleep apnea due to periodic breathing", "MONDO:0005690": "Caplan syndrome", "MONDO:0001531": "blood coagulation disease", "MONDO:0006881": "orbital cellulitis", "MONDO:0006661": "ascorbic acid deficiency", "MONDO:0001641": "severe pre-eclampsia", "MONDO:0006162": "colorectal neuroendocrine tumor G1", "MONDO:0005957": "setariasis", "MONDO:0000670": "cortical deafness", "MONDO:0006499": "hamartoma (disease)", "MONDO:0006234": "grade III prostatic intraepithelial neoplasia", "MONDO:0004769": "orbital plasma cell granuloma", "MONDO:0004407": "stroma-dominant and stroma-poor composite ganglioneuroblastoma", "MONDO:0000115": "Chiari malformation", "MONDO:0006720": "cystic, mucinous, and serous neoplasm", "MONDO:0006557": "hemangioma of subcutaneous tissue", "MONDO:0005501": "congenital disorder of glycosylation type II", "MONDO:0003302": "epithelioid neurofibroma", "MONDO:0042600": "Sammartino-Decreccio syndrome", "MONDO:0027353": "autosomal recessive dyskeratosis congenita 4", "MONDO:0005373": "meningococcal infection", "MONDO:0006000": "tuberculous peritonitis", "MONDO:0021254": "corpus uteri neoplasm", "MONDO:0003775": "lateral ventricle meningioma", "MONDO:0000509": "non-syndromic intellectual disability", "MONDO:0006749": "mixed epithelioid and spindle cell melanoma", "MONDO:0005853": "malignant mixed neoplasm", "MONDO:0024294": "skin disease caused by infection", "MONDO:0004320": "adult infiltrating astrocytic neoplasm", "MONDO:0003030": "endometrioid stromal sarcoma of the cervix", "MONDO:0021115": "luminal B breast carcinoma", "MONDO:0021337": "tonsil carcinoma", "MONDO:0021145": "disease of genitourinary system", "MONDO:0004514": "chronic rhinitis", "MONDO:0000601": "autoimmune disease of urogenital tract", "MONDO:0001493": "chronic pulmonary heart disease", "MONDO:0002197": "minor vestibular glands adenoma", "MONDO:0001459": "radial neuropathy", "MONDO:0006228": "gastric papillary adenocarcinoma", "MONDO:0100072": "neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts", "MONDO:0004681": "learning disability", "MONDO:0006891": "partial motor epilepsy", "MONDO:0005401": "colonic neoplasm", "MONDO:0004033": "familial ovarian carcinoma", "MONDO:0001699": "tinea manuum", "MONDO:0044817": "acquired idiopathic torsion dystonia", "MONDO:0004516": "bulbomembranous urethral cancer", "MONDO:0005362": "erectile dysfunction (disease)", "MONDO:0000271": "tuberculous salpingitis", "MONDO:0004642": "tonsillar pillar cancer", "MONDO:0000256": "systemic mycosis", "MONDO:0002851": "mediastinum rhabdomyosarcoma", "MONDO:0044976": "disease of catalytic activity", "MONDO:0004666": "metagonimiasis", "MONDO:0004148": "gallbladder papillary neoplasm with an associated invasive carcinoma", "MONDO:0001727": "active cochleovestibular Meniere disease", "MONDO:0002763": "urethral verrucous carcinoma", "MONDO:0005017": "diffuse gastric adenocarcinoma", "MONDO:0005607": "chronic bronchitis", "MONDO:0043181": "refsum disease with increased pipecolic acidemia", "MONDO:0006501": "inflammatory skin disease", "MONDO:0054836": "parkinsonism-dystonia, infantile, 2", "MONDO:0003337": "acute hemorrhagic encephalitis", "MONDO:0003317": "metachronous kidney Wilms' tumor", "MONDO:0004679": "leukoplakia of vagina", "MONDO:0003656": "hemoglobinuria", "MONDO:0006890": "parathyroid gland adenoma", "MONDO:0004812": "acute dacryoadenitis", "MONDO:0006170": "conjunctival disorder", "MONDO:0000572": "recombinase activating gene 1 deficiency", "MONDO:0021394": "polyp of vagina", "MONDO:0028741": "overgrowth or tall stature syndrome with skeletal involvement", "MONDO:0003863": "malignant melanocytic neoplasm of the peripheral nerve sheath", "MONDO:0003664": "hemolytic anemia", "MONDO:0004057": "micropapillary variant infiltrating bladder urothelial carcinoma", "MONDO:0006097": "atypical lipomatous tumor", "MONDO:0005195": "septic peritonitis", "MONDO:0020674": "vascular insufficiency disorder", "MONDO:0024619": "central nervous system infectious disorder", "MONDO:0024861": "mixed teratoma and seminoma", "MONDO:0004497": "tertiary syphilis", "MONDO:0006739": "Ehrlich tumor carcinoma", "MONDO:0005599": "malignant epithelioid mesothelioma", "MONDO:0045030": "non-infectious diarrheal disease", "MONDO:0005701": "chlamydia trachomatis infectious disease", "MONDO:0006649": "anterior ischemic optic neuropathy", "MONDO:0009289": "glycogen storage disease IC", "MONDO:0001011": "breast cyst", "MONDO:0023178": "fragile X syndrome type 1", "MONDO:0004717": "peliosis hepatis", "MONDO:0004377": "pancreatic non-functioning delta cell tumor", "MONDO:0002081": "musculoskeletal system disease", "MONDO:0005156": "encephalomyelitis", "MONDO:0045008": "cholesterol metabolism disease", "MONDO:0003760": "pediatric ovarian germ cell tumor", "MONDO:0006106": "benign smooth muscle neoplasm", "MONDO:0006163": "colorectal serrated adenocarcinoma", "MONDO:0003822": "non-invasive bladder papillary urothelial neoplasm", "MONDO:0024884": "metastatic carcinoma in the bone", "MONDO:0003851": "ovarian fetiform teratoma", "MONDO:0021579": "neoplasm of femur", "MONDO:0002829": "bartholin gland carcinoma", "MONDO:0023030": "dysmorphism cleft palate loose skin", "MONDO:0001352": "round ligament malignant neoplasm", "MONDO:0044796": "spindle cell nevus", "MONDO:0005063": "medullary breast carcinoma", "MONDO:0006898": "periarthritis", "MONDO:0000321": "typhoidal tularemia", "MONDO:0003342": "benign perivascular tumor", "MONDO:0003181": "lung adenoid cystic carcinoma", "MONDO:0002672": "acinar prostate adenocarcinoma, signet ring variant", "MONDO:0004571": "intestinal impaction", "MONDO:0005394": "brain infarction", "MONDO:0002630": "small cell osteogenic sarcoma", "MONDO:0004294": "gestational ovarian choriocarcinoma", "MONDO:0043187": "pulmonary artery agenesis", "MONDO:0001682": "diphtheritic peritonitis", "MONDO:0004142": "lung combined large cell neuroendocrine carcinoma", "MONDO:0004267": "squamous papillomatosis", "MONDO:0005143": "Pseudomonas aeruginosa PA14 infection", "MONDO:0022736": "occupational lung disease", "MONDO:0003731": "adult central nervous system teratoma", "MONDO:0003749": "esophageal disease", "MONDO:0023282": "granulomatous hypophysitis", "MONDO:0004528": "lymph node palisaded myofibroblastoma", "MONDO:0003847": "inherited genetic disease", "MONDO:0002912": "brainstem cancer", "MONDO:0006491": "vulvar lichen sclerosus", "MONDO:0003113": "extragonadal germ cell cancer", "MONDO:0000931": "endometrial disease", "MONDO:0000726": "idiopathic scoliosis", "MONDO:0005494": "triple-negative breast carcinoma", "MONDO:0002297": "epidermal appendage tumor", "MONDO:0007000": "Treponema infectious disease", "MONDO:0005496": "bile duct carcinoma", "MONDO:0043541": "viral conjunctivitis", "MONDO:0000342": "O'nyong'nyong fever", "MONDO:0002065": "benign breast adenomyoepithelioma", "MONDO:0005189": "internal carotid artery stenosis", "MONDO:0003557": "optic nerve sheath meningioma", "MONDO:0006759": "femoral neuropathy", "MONDO:0000881": "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1", "MONDO:0022546": "basal cell nevus anodontia abnormal bone mineralization", "MONDO:0024608": "dientamoebiasis", "MONDO:0005976": "syphilis", "MONDO:0001724": "supraglottis cancer", "MONDO:0001219": "serous conjunctivitis except viral", "MONDO:0006586": "neurotic excoriation", "MONDO:0003304": "plexiform neurofibroma (disease)", "MONDO:0000184": "congenital vitamin K-dependent coagulation factors combined deficiency", "MONDO:0044873": "childhood myelodysplastic syndrome", "MONDO:0004753": "mechanical strabismus", "MONDO:0004332": "lung hilum cancer", "MONDO:0001737": "tetanus neonatorum", "MONDO:0003758": "childhood testicular germ cell tumor", "MONDO:0002885": "erythrasma", "MONDO:0005530": "opiate dependence", "MONDO:0003514": "malignant teratoma", "MONDO:0006549": "fibroepithelial polyp of the anus", "MONDO:0006498": "adenomatous colon polyp", "MONDO:0041755": "twin reversal arterial perfusion syndrome", "MONDO:0005770": "genital herpes", "MONDO:0000396": "spastic cerebral palsy", "MONDO:0002223": "ovarian malignant mesothelioma", "MONDO:0025159": "pneumonia of swine, mycoplasmal", "MONDO:0004141": "melanomatosis", "MONDO:0004520": "intratubular embryonal carcinoma", "MONDO:0001801": "staphyloma posticum", "MONDO:0005204": "primary antiphospholipid syndrome", "MONDO:0022545": "Barnicoat Baraitser syndrome", "MONDO:0000365": "primary congenital glaucoma (disease)", "MONDO:0023045": "ectodermal dysplasia arthrogryposis diabetes mellitus", "MONDO:0003261": "papillary meningioma of the cerebellum", "MONDO:0005729": "dicrocoeliasis", "MONDO:0006360": "penile carcinoma", "MONDO:0012268": "AIDS", "MONDO:0000432": "lymphoplasmacytic lymphoma", "MONDO:0002479": "Sertoli-Leydig cell tumor", "MONDO:0000920": "duodenum cancer", "MONDO:0001782": "mature cataract", "MONDO:0043576": "endarteritis", "MONDO:0024360": "central sleep apnea caused by high altitude", "MONDO:0005664": "bartonellosis", "MONDO:0021100": "breast neoplasm", "MONDO:0009640": "mitochondrial complex I deficiency", "MONDO:0005175": "aggressive insulitis", "MONDO:0002803": "intestinal pseudo-obstruction", "MONDO:0002910": "peroneal neuropathy", "MONDO:0006053": "renal leiomyoma", "MONDO:0001437": "pulmonary alveolar proteinosis", "MONDO:0024913": "cattle disease", "MONDO:0024650": "drug-induced osteoporosis", "MONDO:0006115": "blast phase chronic myelogenous leukemia, BCR-ABL1 positive", "MONDO:0002123": "calcinosis", "MONDO:0001748": "maxillary sinus carcinoma", "MONDO:0003600": "cutaneous liposarcoma", "MONDO:0003862": "melanotic psammomatous malignant peripheral nerve sheath tumor", "MONDO:0005592": "smooth surface dental caries", "MONDO:0006811": "intracranial hypotension", "MONDO:0000592": "specific developmental disorder", "MONDO:0000878": "cytomegalovirus retinitis", "MONDO:0002027": "avoidant personality disorder", "MONDO:0001216": "pulp degeneration", "MONDO:0004630": "substance-induced psychosis", "MONDO:0005734": "dourine", "MONDO:0002975": "malignant breast melanoma", "MONDO:0022820": "congenital articular rigidity", "MONDO:0002076": "pneumothorax (disease)", "MONDO:0001184": "chronic rapidly progressive glomerulonephritis", "MONDO:0002645": "cerebritis", "MONDO:0020666": "Löfgren syndrome", "MONDO:0007011": "uveoparotid fever", "MONDO:0003330": "urinary tract obstruction", "MONDO:0021635": "neurocristopathy", "MONDO:0006524": "acrodermatitis chronica atrophicans", "MONDO:0015872": "giant adenofibroma of the breast", "MONDO:0003216": "ureter adenocarcinoma", "MONDO:0001718": "scleritis (disease)", "MONDO:0015633": "Bazex syndrome", "MONDO:0023003": "double fingernail of fifth finger", "MONDO:0004203": "female urethral cancer", "MONDO:0005020": "intestinal disease", "MONDO:0005925": "pneumonic pasteurellosis", "MONDO:0003973": "tubular variant testicular seminoma", "MONDO:0012878": "Cowden syndrome 2", "MONDO:0004327": "sphenoid sinus Schneiderian papilloma", "MONDO:0021374": "neoplasm of cerebral hemisphere", "MONDO:0002034": "cecum lymphoma", "MONDO:0000700": "familial hemiplegic migraine", "MONDO:0040732": "Pseudomonas aeruginosa infectious disease", "MONDO:0005499": "brain glioma", "MONDO:0002545": "spinal cord disease", "MONDO:0001589": "vaginal enterocele", "MONDO:0019927": "growth hormone-producing pituitary gland neoplasm", "MONDO:0001771": "infective urethral stricture", "MONDO:0024467": "apocrine sweat gland disease", "MONDO:0014964": "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum", "MONDO:0005315": "bone fracture", "MONDO:0003629": "uterine corpus serous adenocarcinoma", "MONDO:0006455": "thymic undifferentiated carcinoma", "MONDO:0003119": "histiocytoid hemangioma", "MONDO:0006551": "alopecia mucinosa", "MONDO:0020006": "rare hematologic disease", "MONDO:0001772": "ulcer of anus and rectum", "MONDO:0001596": "hypochondriasis", "MONDO:0023048": "ectodermal dysplasia neurosensory deafness", "MONDO:0024314": "parasitemia", "MONDO:0000997": "monocular esotropia", "MONDO:0002124": "secondary lacrimal atrophy", "MONDO:0022406": "aksu von stockhausen syndrome", "MONDO:0001185": "dissociative amnesia", "MONDO:0006579": "melanoacanthoma", "MONDO:0002849": "liver rhabdomyosarcoma", "MONDO:0001243": "disseminated intravascular coagulation", "MONDO:0042924": "Vagneur-Triolle-Ripert syndrome", "MONDO:0003185": "adenoid cystic breast carcinoma", "MONDO:0021528": "benign neoplasm of male breast", "MONDO:0000313": "hypophosphatemia (disease)", "MONDO:0005121": "Enterococcus faecalis infection", "MONDO:0021324": "malignant neoplasm of abdominal esophagus", "MONDO:0000648": "nervous system benign neoplasm", "MONDO:0001912": "acute frontal sinusitis", "MONDO:0005352": "conduct disorder", "MONDO:0000491": "limb ischemia", "MONDO:0006940": "radial nerve lesion", "MONDO:0001353": "Bordetella parapertussis infectious disease", "MONDO:0001300": "autonomic neuropathy", "MONDO:0002285": "pupil disease", "MONDO:0005913": "phlebotomus fever", "MONDO:0002815": "acute myocarditis", "MONDO:0005408": "diabetes mellitus type 2 associated cataract", "MONDO:0002940": "anal margin basal cell carcinoma", "MONDO:0043678": "chromosome inversion", "MONDO:0010303": "colobomatous microphthalmia", "MONDO:0022586": "bone dysplasia Moore type", "MONDO:0021472": "benign neoplasm of scrotum", "MONDO:0043327": "cerebrospinal fluid leak", "MONDO:0006193": "endometrial hyperplasia without atypia", "MONDO:0043919": "radiation pneumonitis", "MONDO:0001470": "anal margin squamous cell carcinoma", "MONDO:0022888": "craniostenosis cataract", "MONDO:0006582": "mongolian spot", "MONDO:0004537": "intestinal variant cervical mucinous adenocarcinoma", "MONDO:0020653": "vaginal adenocarcinoma", "MONDO:0024469": "chondrogenic neoplasm", "MONDO:0000684": "verbal auditory agnosia", "MONDO:0002400": "synovitis (disease)", "MONDO:0044763": "diarrheal disease secondary to decreased bowel motility", "MONDO:0001942": "generalized anxiety disorder", "MONDO:0003200": "urethra adenocarcinoma", "MONDO:0003164": "cauda equina neoplasm", "MONDO:0037821": "porphyrin metabolism disease", "MONDO:0003329": "ureteral obstruction (disease)", "MONDO:0024647": "urolithiasis", "MONDO:0003864": "chronic lymphocytic leukemia/small lymphocytic lymphoma", "MONDO:0006673": "pituitary gland basophil adenoma", "MONDO:0001632": "intracranial arteriosclerosis", "MONDO:0006922": "Anaplasmataceae infectious disease", "MONDO:0005491": "Chagas cardiomyopathy", "MONDO:0002915": "childhood infratentorial neoplasm", "MONDO:0056799": "synovium disease", "MONDO:0006704": "CNS demyelinating autoimmune disease", "MONDO:0019313": "hereditary lymphedema", "MONDO:0006225": "gastric mantle cell lymphoma", "MONDO:0005843": "mediastinal cancer", "MONDO:0003594": "mixed liposarcoma", "MONDO:0001580": "lacrimal duct cancer", "MONDO:0024332": "perennial allergic rhinitis", "MONDO:0010272": "syndromic X-linked intellectual disability type 10", "MONDO:0022790": "cleft tongue", "MONDO:0003606": "adrenal medulla cancer", "MONDO:0023122": "familial prostate carcinoma", "MONDO:0019703": "primary bone dysplasia with increased bone density", "MONDO:0022981": "die Smulders droog van dijk syndrome", "MONDO:0044001": "hearing loss, mixed conductive-sensorineural", "MONDO:0043219": "migraine with brainstem aura", "MONDO:0044795": "epithelioid cell nevus", "MONDO:0006533": "cholesteatoma of middle ear", "MONDO:0003023": "aorta angiosarcoma", "MONDO:0006274": "low grade vulvar intraepithelial neoplasia", "MONDO:0003554": "adenosquamous colon carcinoma", "MONDO:0024292": "gastrointestinal polyp", "MONDO:0001091": "lipoma of colon", "MONDO:0004558": "thyroid gland macrofollicular adenoma", "MONDO:0006841": "lymphangioendothelioma", "MONDO:0001496": "male genital organ stricture", "MONDO:0019863": "acro-renal-ocular syndrome", "MONDO:0003852": "ovarian solid teratoma", "MONDO:0021184": "deltaretrovirus infections", "MONDO:0019710": "dysostosis with predominant craniofacial involvement", "MONDO:0006684": "brain edema", "MONDO:0001754": "eclampsia", "MONDO:0001120": "chronic frontal sinusitis", "MONDO:0006576": "Ludwig's angina", "MONDO:0000841": "metaphyseal dysplasia", "MONDO:0021808": "acute cholinergic dysautonomia", "MONDO:0004851": "toxic myocarditis", "MONDO:0001418": "trachea sarcoma", "MONDO:0005755": "equine infectious anemia", "MONDO:0003962": "Froelich syndrome", "MONDO:0004335": "digestive system disease", "MONDO:0001620": "louse-borne relapsing fever", "MONDO:0001166": "nephritis", "MONDO:0003476": "clear cell ependymoma", "MONDO:0010528": "anosmia (disease)", "MONDO:0007455": "diabetes mellitus, noninsulin-dependent", "MONDO:0021439": "benign neoplasm of pituitary gland", "MONDO:0004821": "nasopharyngeal disease", "MONDO:0001104": "toxic diffuse goiter", "MONDO:0004926": "dacryocystitis", "MONDO:0006888": "paraneoplastic polyneuropathy", "MONDO:0006118": "breast fibrosis", "MONDO:0005385": "vascular disease", "MONDO:0025087": "classical swine fever", "MONDO:0004592": "impetigo", "MONDO:0000465": "atrioventricular block (disease)", "MONDO:0006040": "lactic acidosis", "MONDO:0021488": "benign neoplasm of lacrimal gland", "MONDO:0020676": "disease of central nervous system or retinal vasculature", "MONDO:0003056": "lymphoplasmacyte-rich meningioma", "MONDO:0000413": "infancy electroclinical syndrome", "MONDO:0024643": "myocardial disorder", "MONDO:0026045": "prurigo nodularis", "MONDO:0004247": "peptic ulcer disease", "MONDO:0004201": "pituitary hypoplasia", "MONDO:0022403": "Ahumada Del Castillo syndrome", "MONDO:0000500": "tongue squamous cell carcinoma", "MONDO:0000477": "focal dystonia", "MONDO:0002731": "cerebral hemisphere cancer", "MONDO:0004152": "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation", "MONDO:0003810": "bladder diffuse clear cell adenocarcinoma", "MONDO:0005902": "peanut allergic reaction", "MONDO:0003054": "benign meningioma", "MONDO:0006865": "necrotizing ulcerative gingivitis", "MONDO:0005738": "echinococcosis", "MONDO:0040653": "autosomal recessive ocular albinism", "MONDO:0001522": "pyromania", "MONDO:0002927": "spindle cell sarcoma", "MONDO:0002870": "tricuspid valve insufficiency", "MONDO:0006859": "mucinous cystadenoma", "MONDO:0004830": "fasciitis (disease)", "MONDO:0004183": "axonal neuropathy", "MONDO:0021553": "transverse myelitis", "MONDO:0004170": "nodular episcleritis", "MONDO:0006854": "mesenchymoma", "MONDO:0005279": "pulmonary embolism (disease)", "MONDO:0004931": "residual stage corticosteroid-induced glaucoma", "MONDO:0003028": "thyroid sarcoma", "MONDO:0100063": "Pericytoma with t(7;12)", "MONDO:0002361": "transverse colon cancer", "MONDO:0004663": "colon carcinoma in situ", "MONDO:0022948": "deal barratt dillon syndrome", "MONDO:0006528": "bacterial exanthem", "MONDO:0001304": "benign hypertensive renal disease", "MONDO:0002464": "lacrimal gland cancer", "MONDO:0021234": "spinal cord neoplasm", "MONDO:0024883": "metastatic neoplasm", "MONDO:0002485": "breast neuroendocrine neoplasm", "MONDO:0003007": "childhood kidney cell carcinoma", "MONDO:0001095": "mediastinum neuroblastoma", "MONDO:0003886": "mucinous cystadenofibroma", "MONDO:0001938": "vulvar dystrophy", "MONDO:0002420": "tic disorder", "MONDO:0025135": "tuberculosis, avian", "MONDO:0005214": "vulva sarcoma", "MONDO:0004544": "chordoid meningioma", "MONDO:0001603": "paralytic lagophthalmos (disease)", "MONDO:0006970": "sialolithiasis", "MONDO:0000957": "lacrimal passage granuloma", "MONDO:0003219": "gastroesophageal junction adenocarcinoma", "MONDO:0005522": "small intestine carcinoma", "MONDO:0004693": "squamous carcinoma in situ", "MONDO:0002427": "cerebellar disease", "MONDO:0002858": "ovary rhabdomyosarcoma", "MONDO:0006154": "colon mucosa-associated lymphoid tissue lymphoma", "MONDO:0019687": "type 11 collagen-related bone disorder", "MONDO:0001454": "Blessig's cysts", "MONDO:0019664": "short rib-polydactyly syndrome, Verma-Naumoff type", "MONDO:0003888": "childhood testicular mixed embryonal carcinoma and teratoma", "MONDO:0001332": "palindromic rheumatism", "MONDO:0006636": "Actinobacillus infectious disease", "MONDO:0002299": "glomangioma", "MONDO:0004140": "intermediate malignant teratoma", "MONDO:0001366": "splenic sequestration", "MONDO:0006785": "Henoch-Schoenlein purpura", "MONDO:0001751": "cholestasis", "MONDO:0043653": "herpes labialis", "MONDO:0006058": "Wilms tumor", "MONDO:0022057": "calcifying epithelial odontogenic tumor", "MONDO:0024873": "clitoral carcinoma", "MONDO:0005875": "Newcastle disease", "MONDO:0022846": "congenital nonhemolytic jaundice", "MONDO:0002627": "chondroblastic osteosarcoma", "MONDO:0004199": "vulvar keratinizing squamous cell carcinoma", "MONDO:0006878": "Moraxellaceae infectious disease", "MONDO:0021655": "secondary catabolic mucinosis of skin", "MONDO:0002332": "splenic disease", "MONDO:0005792": "herpes simplex virus gingivostomatitis", "MONDO:0022863": "corneal crystals myopathy neuropathy", "MONDO:0002641": "subclavian artery aneurysm", "MONDO:0001609": "agranulocytosis", "MONDO:0001654": "spermatic cord cancer", "MONDO:0023164": "viral pericarditis", "MONDO:0013809": "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome", "MONDO:0000460": "neural glioblastoma", "MONDO:0013736": "myopathy, centronuclear, 3", "MONDO:0022613": "bruyn scheltens syndrome", "MONDO:0006897": "periapical granuloma", "MONDO:0021351": "neoplasm of neck", "MONDO:0002800": "thrombophlebitis", "MONDO:0000137": "leukoencephalopathy, megalencephalic", "MONDO:0004257": "childhood central nervous system mixed germ cell tumor", "MONDO:0004935": "acquired carotenemia", "MONDO:0004503": "upper clivus meningioma", "MONDO:0037003": "malignant phyllodes tumor", "MONDO:0001130": "nasal cavity lymphoma", "MONDO:0000701": "ischemic colitis", "MONDO:0003700": "brachial plexus neoplasm", "MONDO:0024893": "toxocara canis infection (canine roundworms)", "MONDO:0006572": "lichen planus", "MONDO:0003633": "malignant mesenchymoma", "MONDO:0036870": "lymphatic vessel neoplasm", "MONDO:0003545": "intradural extramedullary spinal canal neoplasm", "MONDO:0005847": "middle lobe syndrome", "MONDO:0004149": "gallbladder pleomorphic giant cell adenocarcinoma", "MONDO:0006389": "prostate rhabdomyosarcoma", "MONDO:0008674": "WHIM syndrome", "MONDO:0002586": "thymus cancer", "MONDO:0003685": "retroperitoneal germ cell neoplasm", "MONDO:0006629": "osteoarthritis, hip", "MONDO:0002264": "atrophy of prostate", "MONDO:0001723": "progressive peripheral pterygium", "MONDO:0041403": "toxic amblyopia", "MONDO:0005852": "mitral valve stenosis", "MONDO:0006351": "parachordoma", "MONDO:0005075": "thyroid gland papillary carcinoma", "MONDO:0001245": "microcytic anemia", "MONDO:0004963": "T-cell acute lymphoblastic leukemia", "MONDO:0004303": "parathyroid gland clear cell adenoma", "MONDO:0004559": "malignant glandular tumor of peripheral nerve sheath", "MONDO:0006740": "empty sella syndrome", "MONDO:0003298": "vulvar leiomyoma", "MONDO:0001262": "African histoplasmosis", "MONDO:0020635": "anaplastic meningioma", "MONDO:0024659": "colorectal Kaposi sarcoma", "MONDO:0004063": "intermediate cell type iris melanoma", "MONDO:0002049": "thrombocytopenia", "MONDO:0005821": "late congenital syphilis", "MONDO:0022819": "congenital arteriovenous shunt", "MONDO:0019224": "inborn disorder of gamma-aminobutyric acid metabolism", "MONDO:0001779": "vaginal squamous papilloma", "MONDO:0040675": "myofibroblastoma", "MONDO:0005057": "large cell neuroendocrine carcinoma", "MONDO:0002729": "rhabdoid tumor of the kidney", "MONDO:0001175": "immature cataract", "MONDO:0003941": "classic variant of chromophobe renal cell carcinoma", "MONDO:0037872": "bordetellosis", "MONDO:0004300": "intracortical osteogenic sarcoma", "MONDO:0022293": "vascular disorder of penis", "MONDO:0021578": "sternal neoplasm", "MONDO:0005473": "temporomandibular joint disorder", "MONDO:0002844": "lymphocytic gastritis", "MONDO:0019302": "mucopolysaccharidosis with skin involvement", "MONDO:0002271": "colon adenocarcinoma", "MONDO:0003682": "localized chondrosarcoma", "MONDO:0005698": "cervical incompetence", "MONDO:0002691": "liver cancer", "MONDO:0002386": "mixed epithelial stromal tumor of the kidney", "MONDO:0004662": "heterophyiasis", "MONDO:0001780": "premature ejaculation (disease)", "MONDO:0043123": "massa casaer ceulemans syndrome", "MONDO:0005411": "gallbladder cancer", "MONDO:0015429": "choroideremia-hypopituitarism syndrome", "MONDO:0001903": "calcific tendinitis", "MONDO:0003325": "nodular ganglioneuroblastoma", "MONDO:0004224": "chronic metabolic polyneuropathy", "MONDO:0002021": "gingival disease", "MONDO:0004582": "rheumatic myocarditis", "MONDO:0001882": "bacteriuria (disease)", "MONDO:0001220": "hypoparathyroidism", "MONDO:0004701": "uterine polyp", "MONDO:0005996": "trichuriasis", "MONDO:0004719": "hard palate cancer", "MONDO:0023062": "encephalocele anencephaly", "MONDO:0000758": "bacillary angiomatosis", "MONDO:0000664": "apperceptive agnosia", "MONDO:0005639": "AIDS related complex", "MONDO:0006644": "alcoholic liver cirrhosis", "MONDO:0005998": "trombiculiasis", "MONDO:0021004": "brachydactyly (disease)", "MONDO:0023133": "Faye-Petersen-Ward-Carey syndrome", "MONDO:0006071": "adenofibroma", "MONDO:0002448": "laryngeal sarcoma", "MONDO:0001211": "total internal ophthalmoplegia", "MONDO:0006643": "alcoholic cardiomyopathy", "MONDO:0001428": "pylorospasm", "MONDO:0002788": "papillary craniopharyngioma", "MONDO:0001123": "chronic sphenoidal sinusitis", "MONDO:0022758": "chromosome 22, monosome mosaic", "MONDO:0002406": "dermatitis", "MONDO:0003887": "ovarian mucinous adenofibroma", "MONDO:0023111": "familial capillaro-venous leptomeningeal angiomatosis", "MONDO:0003475": "papillary ependymoma", "MONDO:0003596": "spindle cell liposarcoma", "MONDO:0005590": "breast ductal adenocarcinoma", "MONDO:0005625": "cerebral malaria", "MONDO:0022742": "occupational asthma", "MONDO:0003294": "pericardium leiomyoma", "MONDO:0004613": "acute intestinal ischemia", "MONDO:0003579": "retinal nerve fibre layer disorder", "MONDO:0022055": "Calabro syndrome", "MONDO:0004021": "mediastinal malignant lymphoma", "MONDO:0006226": "gastric mucosa-associated lymphoid tissue lymphoma", "MONDO:0011947": "HNP1", "MONDO:0003033": "prostate angiosarcoma", "MONDO:0005898": "paronychia (disease)", "MONDO:0001578": "hernia of ovary and fallopian tube", "MONDO:0000462": "eye adnexa disease", "MONDO:0021164": "posthitis", "MONDO:0044793": "spitz nevus", "MONDO:0001405": "dermatophytosis of groin and perianal area", "MONDO:0004417": "nested variant infiltrating bladder urothelial carcinoma", "MONDO:0004146": "transitional meningioma", "MONDO:0000359": "spondylocostal dysostosis", "MONDO:0006182": "digestive system mixed adenoneuroendocrine carcinoma", "MONDO:0005442": "type 1 diabetes nephropathy", "MONDO:0044990": "hand disease", "MONDO:0025163": "white heifer disease", "MONDO:0003170": "gliofibroma", "MONDO:0003231": "acute nonparalytic poliomyelitis", "MONDO:0003698": "penis verrucous carcinoma", "MONDO:0003544": "spinal cord cancer", "MONDO:0004286": "pancreatic intraductal papillary-mucinous neoplasm", "MONDO:0005495": "adrenal gland disease", "MONDO:0006235": "granular cell tumor", "MONDO:0018834": "adenylosuccinate synthetase-like 1-related distal myopathy", "MONDO:0000802": "Indian prawn allergy", "MONDO:0004879": "senile atrophy of choroid", "MONDO:0020587": "factor XI deficiency", "MONDO:0004680": "primary thrombocytopenia", "MONDO:0023616": "familial leiomyomatosis", "MONDO:0022413": "Albright-like syndrome", "MONDO:0023043": "ectodermal dysplasia alopecia preaxial polydactyly", "MONDO:0004381": "pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia", "MONDO:0004873": "internal hemorrhoid", "MONDO:0000708": "Crohn jejunoileitis", "MONDO:0001112": "bubonic plague", "MONDO:0043523": "cadmium poisoning", "MONDO:0020669": "paranasal sinus cancer", "MONDO:0022872": "corpus callosum dysgenesis X-linked recessive", "MONDO:0006497": "cerebral palsy", "MONDO:0001661": "background diabetic retinopathy", "MONDO:0004453": "testicular yolk sac tumor, myxomatous pattern", "MONDO:0003657": "methotrexate-associated lymphoproliferation", "MONDO:0001143": "paralytic strabismus", "MONDO:0006633": "acalculous cholecystitis", "MONDO:0002969": "ciliary body cancer", "MONDO:0003837": "TSH producing pituitary tumor", "MONDO:0003955": "juvenile breast papillomatosis", "MONDO:0000803": "tiger prawn allergy", "MONDO:0042602": "Samson-Viljoen syndrome", "MONDO:0001414": "osteopoikilosis (disease)", "MONDO:0003173": "brain stem astrocytic neoplasm", "MONDO:0400004": "phrynoderma", "MONDO:0001151": "benign essential hypertension", "MONDO:0002100": "cardiovascular cancer", "MONDO:0021952": "autoimmune progesterone dermatitis", "MONDO:0002968": "lymphocele", "MONDO:0006828": "nasal cavity and paranasal sinus lethal midline granuloma", "MONDO:0008952": "cerebrofaciothoracic dysplasia", "MONDO:0024295": "skin disease caused by bacterial infection", "MONDO:0025484": "simian acquired immunodeficiency syndrome", "MONDO:0045059": "cribriform carcinoma of breast", "MONDO:0010845": "macrothrombocytopenia and progressive sensorineural deafness", "MONDO:0002404": "liver hemangioma", "MONDO:0003252": "granular cell cancer", "MONDO:0001291": "brain compression", "MONDO:0005297": "urethritis (disease)", "MONDO:0002482": "nipple neoplasm", "MONDO:0001258": "vertebral artery occlusion", "MONDO:0000379": "malignant Sertoli-Leydig cell tumor", "MONDO:0022936": "de Hauwere Leroy adriaenssens syndrome", "MONDO:0004256": "lumbar spinal canal and spinal cord meningioma", "MONDO:0001525": "thyrocalcitonin secretion disease", "MONDO:0000659": "delta-heavy chain disease", "MONDO:0001991": "malignant cardiac germ cell tumor", "MONDO:0001295": "idiopathic peripheral autonomic neuropathy", "MONDO:0000801": "green mud crab allergy", "MONDO:0002163": "thymus lipoma", "MONDO:0002106": "labyrinthine unilateral reactive loss", "MONDO:0003398": "anterograde amnesia", "MONDO:0003103": "nerve root neoplasm", "MONDO:0001103": "giardiasis", "MONDO:0006398": "retroperitoneal inflammatory myofibroblastic tumor", "MONDO:0000805": "snail allergy", "MONDO:0002816": "adrenal cortex disease", "MONDO:0000923": "interstitial emphysema", "MONDO:0007140": "antiphospholipid syndrome", "MONDO:0006105": "benign conjunctival neoplasm", "MONDO:0000535": "tonsil squamous cell carcinoma", "MONDO:0004491": "uterine corpus choriocarcinoma", "MONDO:0016676": "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome", "MONDO:0001909": "renal tubular acidosis", "MONDO:0021109": "inverted urothelial papilloma", "MONDO:0005890": "osteitis fibrosa", "MONDO:0020944": "fungal infection of eye", "MONDO:0013476": "hypertrophic cardiomyopathy 19", "MONDO:0000606": "gluten allergy", "MONDO:0002483": "breast myoepithelial tumor", "MONDO:0002993": "pancreatic somatostatinoma", "MONDO:0006989": "suppurative periapical periodontitis", "MONDO:0002810": "pancreatic serous cystic neoplasm", "MONDO:0002119": "ossifying fibroma (disease)", "MONDO:0019683": "syndactyly type 2", "MONDO:0004768": "keratoconjunctivitis", "MONDO:0005471": "neurally mediated hypotension", "MONDO:0004238": "petrous apex meningioma", "MONDO:0000540": "small intestinal neuroendocrine tumor G1", "MONDO:0006860": "mucoepidermoid tumor", "MONDO:0006762": "freemartinism", "MONDO:0016076": "lymphatic filariasis", "MONDO:0003004": "macular degeneration", "MONDO:0003171": "pineal gland astrocytoma", "MONDO:0008940": "endosteal sclerosis-cerebellar hypoplasia syndrome", "MONDO:0007013": "vasculogenic impotence", "MONDO:0004031": "ovary mixed epithelial carcinoma", "MONDO:0006766": "gait apraxia", "MONDO:0027029": "HHV-6 encephalitis", "MONDO:0002351": "glottis cancer", "MONDO:0043300": "actinic cheilitis", "MONDO:0004424": "familial glomangioma", "MONDO:0023597": "laryngeal papillomatosis", "MONDO:0000290": "primary amebic meningoencephalitis", "MONDO:0005355": "coronary restenosis", "MONDO:0006843": "macular holes", "MONDO:0002110": "adrenal rest tumor", "MONDO:0003450": "eccrine papillary adenoma", "MONDO:0010119": "Glanzmann's thrombasthenia", "MONDO:0001334": "hypertrichosis of eyelid", "MONDO:0010996": "hereditary hemorrhagic telangiectasia type 3", "MONDO:0005777": "granuloma inguinale", "MONDO:0008873": "microcephalic osteodysplastic primordial dwarfism, type 3", "MONDO:0004603": "collagenopathy", "MONDO:0004177": "benign urethral neoplasm", "MONDO:0006141": "cervical villoglandular adenocarcinoma", "MONDO:0006920": "prediabetes syndrome", "MONDO:0001886": "midline cystocele", "MONDO:0005284": "chronic progressive multiple sclerosis", "MONDO:0006074": "adenosquamous carcinoma", "MONDO:0006899": "pericoronitis", "MONDO:0001181": "secondary corneal edema", "MONDO:0023704": "Martinez Monasterio Pinheiro syndrome", "MONDO:0003712": "angiokeratoma of mibelli", "MONDO:0006731": "drug-induced akathisia", "MONDO:0000549": "cervical neuroblastoma", "MONDO:0005679": "bovine virus diarrhea-mucosal disease", "MONDO:0004694": "hepatopulmonary syndrome", "MONDO:0008929": "cataract-intellectual disability-hypogonadism syndrome", "MONDO:0005678": "bovine respiratory disease complex", "MONDO:0025102": "monkey disease", "MONDO:0004493": "testicular yolk sac tumor, papillary pattern", "MONDO:0001904": "polyneuropathy due to drug", "MONDO:0001878": "acquired hypertrophic pyloric stenosis", "MONDO:0003650": "mixed hepatoblastoma", "MONDO:0004510": "inflammatory liposarcoma", "MONDO:0004513": "adult pleomorphic rhabdomyosarcoma", "MONDO:0021143": "melanocytic neoplasm", "MONDO:0006406": "sarcomatoid carcinoma", "MONDO:0024279": "chronic endometritis", "MONDO:0003365": "esophagus leiomyosarcoma", "MONDO:0002578": "botryoid rhabdomyosarcoma", "MONDO:0001318": "functional gastric disease", "MONDO:0004143": "psammomatous meningioma", "MONDO:0000587": "autoimmune disease of ear, nose and throat", "MONDO:0001367": "chronic congestive splenomegaly", "MONDO:0021674": "post-viral disorder", "MONDO:0004820": "peripheral nerve schwannoma", "MONDO:0000687": "diffuse alopecia areata", "MONDO:0005443": "type 2 diabetes nephropathy", "MONDO:0021192": "odontogenic neoplasm", "MONDO:0003677": "lateral myocardial infarction", "MONDO:0005775": "glucosephosphate dehydrogenase deficiency", "MONDO:0003534": "papillary thymic adenocarcinoma", "MONDO:0022644": "cardiac hydatid cysts with intracavitary expansion", "MONDO:0021158": "gonococcal epididymo-orchitis", "MONDO:0005167": "fibroma", "MONDO:0020012": "systemic or rheumatic disease", "MONDO:0006662": "aseptic meningitis", "MONDO:0024251": "Minamata disease", "MONDO:0000744": "lung abscess (disease)", "MONDO:0001481": "femoral vein thrombophlebitis", "MONDO:0000806": "horned turban snail allergy", "MONDO:0022893": "craniosynostosis arthrogryposis cleft palate", "MONDO:0002720": "sella turcica neoplasm", "MONDO:0036990": "benign Leydig cell tumor", "MONDO:0021630": "lipoma of face", "MONDO:0002444": "melancholia", "MONDO:0020672": "vascular occlusion disorder", "MONDO:0040872": "non-psychogenic polydipsia", "MONDO:0043377": "juvenile spondyloarthropathy", "MONDO:0003549": "adenosquamous bile duct carcinoma", "MONDO:0006521": "acneiform dermatitis", "MONDO:0022694": "cerebral calcifications opalescent teeth phosphaturia", "MONDO:0043458": "radiation injury", "MONDO:0021639": "grade II glioma", "MONDO:0022960": "dermatocardioskeletal syndrome boronne type", "MONDO:0000345": "Oropouche fever", "MONDO:0005616": "pulmonary mucoepidermoid carcinoma", "MONDO:0022858": "continuous spike-wave during slow sleep syndrome", "MONDO:0001461": "tinea corporis", "MONDO:0037940": "inherited auditory system disease", "MONDO:0001736": "neonatal infective mastitis", "MONDO:0005718": "Coronaviridae infectious disease", "MONDO:0005719": "coronavinae infectious disease", "MONDO:0006237": "granulocytic sarcoma", "MONDO:0021366": "neoplasm of middle ear", "MONDO:0044743": "major salivary gland cancer", "MONDO:0001990": "malignant cardiac peripheral nerve sheath neoplasm", "MONDO:0002471": "bursitis", "MONDO:0005911": "pharyngoconjunctival fever", "MONDO:0022983": "Dieterich disease", "MONDO:0002107": "unilateral hyperactive labyrinth", "MONDO:0003098": "mediastinal neural neoplasm", "MONDO:0041182": "polymorphic light eruption", "MONDO:0004988": "breast adenocarcinoma", "MONDO:0006324": "normal breast-like subtype of breast carcinoma", "MONDO:0043479": "adenoviridae infectious disease", "MONDO:0004005": "rete ovarii adenoma", "MONDO:0004443": "chest wall parachordoma", "MONDO:0000478": "multifocal dystonia", "MONDO:0001910": "ochronosis disorder", "MONDO:0001506": "prostatocystitis", "MONDO:0000646": "ovarian benign neoplasm", "MONDO:0002411": "narcissistic personality disorder", "MONDO:0023558": "Kocher-debre-Semelaigne syndrome", "MONDO:0000662": "amusia", "MONDO:0005078": "phyllodes tumor", "MONDO:0003733": "central nervous system mature teratoma", "MONDO:0002190": "vulvar syringoma", "MONDO:0023141": "antihypertensive drugs antenatal exposure syndrome", "MONDO:0001082": "lymph node cancer", "MONDO:0006117": "breast diffuse large B-cell lymphoma", "MONDO:0003539": "T-cell adult acute lymphocytic leukemia", "MONDO:0021491": "benign neoplasm of gum", "MONDO:0024275": "amebic dysentery", "MONDO:0016640": "fibrous dysplasia of bone", "MONDO:0006266": "Leydig cell tumor", "MONDO:0021953": "tuberculous fibrosis of lung", "MONDO:0022574": "biliary atresia intrahepatic syndromic form", "MONDO:0002741": "uterine ligament adenocarcinoma", "MONDO:0003989": "polyembryoma of the ovary", "MONDO:0042488": "Cestode infectious disease", "MONDO:0056819": "nasal cavity and paranasal sinus carcinoma", "MONDO:0002781": "glossopharyngeal nerve paralysis", "MONDO:0007960": "megacystis-microcolon-intestinal hypoperistalsis syndrome", "MONDO:0021682": "viral sexually transmitted disease", "MONDO:0010935": "neuronopathy, distal hereditary motor, type 5A", "MONDO:0024483": "urothelial hyperplasia", "MONDO:0006144": "cervical Wilms tumor", "MONDO:0024990": "swine disease", "MONDO:0000389": "atelosteogenesis", "MONDO:0040700": "orbital dermoid cyst", "MONDO:0006258": "juvenile polyp", "MONDO:0005250": "placental villitis", "MONDO:0043544": "nosocomial infection", "MONDO:0004575": "choline deficiency disease", "MONDO:0003109": "foramen magnum meningioma", "MONDO:0006423": "soft tissue chondroma", "MONDO:0000636": "musculoskeletal system benign neoplasm", "MONDO:0000618": "Her2-receptor negative breast cancer", "MONDO:0006119": "breast mucosa-associated lymphoid tissue lymphoma", "MONDO:0010009": "SC phocomelia syndrome", "MONDO:0006306": "mixed lobular and ductal breast carcinoma", "MONDO:0005168": "neoplasm of immature B and T cells", "MONDO:0006790": "hypercementosis", "MONDO:0020708": "brachial amyotrophic diplegia", "MONDO:0041154": "disease of neck of urinary bladder", "MONDO:0003988": "sternum lymphoma", "MONDO:0024656": "colorectal lymphoma", "MONDO:0000333": "early congenital syphilis", "MONDO:0001974": "hemangioma of orbit", "MONDO:0005675": "border disease", "MONDO:0004501": "fallopian tube cystadenofibroma", "MONDO:0003138": "subacute glomerulonephritis", "MONDO:0041959": "fibrosis of bile duct", "MONDO:0005037": "gastric intestinal type adenocarcinoma", "MONDO:0006622": "vulvar seborrheic keratosis", "MONDO:0022892": "craniosynostosis alopecia brain defect", "MONDO:0020645": "autosomal dominant osteopetrosis", "MONDO:0002247": "factor X deficiency", "MONDO:0000901": "relapsed/refractory diffuse large B-cell lymphoma", "MONDO:0000415": "adolescence-adult electroclinical syndrome", "MONDO:0021535": "pancreatic neuroendocrine tumor G1", "MONDO:0000680": "astereognosia (disease)", "MONDO:0021702": "alcohol amnestic disorder", "MONDO:0021104": "alcoholic fatty liver disease", "MONDO:0001773": "post-vaccinal encephalitis", "MONDO:0005485": "psychotic disorder", "MONDO:0021353": "tumor of uterus", "MONDO:0009096": "hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia", "MONDO:0002817": "adrenal gland cancer", "MONDO:0002360": "chondroma", "MONDO:0002569": "gastric dilatation", "MONDO:0003816": "articular cartilage disease", "MONDO:0024307": "prothrombin deficiency", "MONDO:0003363": "malignant dermis tumor", "MONDO:0007009": "ureterolithiasis", "MONDO:0000470": "endocardium disease", "MONDO:0003917": "heart lymphoma", "MONDO:0021285": "carcinoma in situ of urethra", "MONDO:0000755": "ectopic pregnancy", "MONDO:0006436": "submandibular gland adenoid cystic carcinoma", "MONDO:0003508": "choriocarcinoma of testis", "MONDO:0023143": "fetal enterovirus syndrome", "MONDO:0006004": "vasomotor rhinitis", "MONDO:0002335": "chronic inflammatory demyelinating polyneuritis", "MONDO:0005533": "distal colitis", "MONDO:0002300": "dermis tumor", "MONDO:0004067": "gallbladder mucinous adenocarcinoma", "MONDO:0006517": "childhood malignant neoplasm", "MONDO:0024617": "xanthogranuloma", "MONDO:0002467": "inner ear disease", "MONDO:0002156": "fallopian tube disease", "MONDO:0001767": "stenosis of lacrimal punctum", "MONDO:0001537": "tuberculous epididymitis", "MONDO:0000757": "glucocorticoid-induced osteoporosis", "MONDO:0021292": "carcinoma in situ of gastric body", "MONDO:0000772": "pollen allergy", "MONDO:0001203": "prolapse of lacrimal gland", "MONDO:0004562": "breast apocrine carcinoma in situ", "MONDO:0006514": "recalcitrant atopic dermatitis", "MONDO:0002207": "vulval Paget disease", "MONDO:0003985": "chest wall lymphoma", "MONDO:0023601": "non-classic congenital adrenal hyperplasia", "MONDO:0002982": "peripheral primitive neuroectodermal tumor of soft tissues", "MONDO:0003373": "kidney leiomyosarcoma", "MONDO:0044925": "oral cavity carcinoma", "MONDO:0002192": "vulvar angiokeratoma", "MONDO:0005409": "variant Creutzfeld Jacob disease", "MONDO:0002218": "temporal lobe cancer", "MONDO:0002281": "macrocytic anemia (disease)", "MONDO:0024239": "congenital anomaly of cardiovascular system", "MONDO:0006949": "retinal drusen", "MONDO:0020761": "Bowen disease of the skin", "MONDO:0001270": "stone in bladder diverticulum", "MONDO:0037748": "hyperlipoproteinemia", "MONDO:0001117": "methemoglobinemia", "MONDO:0004794": "exposure keratitis", "MONDO:0002426": "lung sarcoma", "MONDO:0006239": "head and neck paraganglioma", "MONDO:0002547": "nerve sheath neoplasm", "MONDO:0004318": "pulmonary type ovarian small cell carcinoma", "MONDO:0006391": "pyloric gland adenoma", "MONDO:0003945": "bone epithelioid hemangioma", "MONDO:0002455": "exocervical carcinoma", "MONDO:0006801": "ileal neoplasm", "MONDO:0001128": "nasal cavity cancer", "MONDO:0000872": "B-cell childhood acute lymphoblastic leukemia", "MONDO:0004450": "carotid artery occlusion", "MONDO:0021071": "laryngeal neoplasm", "MONDO:0037256": "serous neoplasm", "MONDO:0021545": "myomatous neoplasm", "MONDO:0000412": "neonatal period electroclinical syndrome", "MONDO:0100073": "methicillin-resistant staphylococcus aureus infectious disease", "MONDO:0006326": "ocular melanoma with extraocular extension", "MONDO:0100005": "primary mast cell activation syndrome", "MONDO:0000961": "endobronchial lipoma", "MONDO:0006135": "cervical clear cell adenocarcinoma", "MONDO:0004535": "childhood choriocarcinoma of the ovary", "MONDO:0003438": "combined small cell lung carcinoma", "MONDO:0021568": "renal tubule disease", "MONDO:0021377": "hypertrophic lichen planus", "MONDO:0000666": "associative visual agnosia", "MONDO:0024358": "complex sleep apnea", "MONDO:0006995": "tethered spinal cord syndrome", "MONDO:0043120": "male pseudohermaphroditism due to defective lh molecule", "MONDO:0024346": "pityriasis amiantacea", "MONDO:0007613": "fibromuscular dysplasia of arteries", "MONDO:0006763": "frozen shoulder", "MONDO:0000793": "rainbow trout allergy", "MONDO:0001606": "central nervous system leukemia", "MONDO:0001972": "Brucella melitensis brucellosis", "MONDO:0002416": "ethmoid sinus squamous cell carcinoma", "MONDO:0007023": "Yersinia infectious disease", "MONDO:0023170": "focal or multifocal malformations in neuronal migration", "MONDO:0005140": "ovarian carcinoma", "MONDO:0021183": "HTLV-2 infection", "MONDO:0002268": "dyspepsia", "MONDO:0003137": "diffuse glomerulonephritis", "MONDO:0002236": "ocular cancer", "MONDO:0024676": "childhood kidney Wilms tumor", "MONDO:0000331": "Rickettsia helvetica spotted fever", "MONDO:0004213": "vulvar non-keratinizing squamous cell carcinoma", "MONDO:0002947": "adamantinoid basal cell epithelioma", "MONDO:0021334": "immunoproliferative disorder", "MONDO:0004112": "radiation cystitis", "MONDO:0002278": "benign colon neoplasm", "MONDO:0001449": "lymphocytic choriomeningitis", "MONDO:0000411": "electroclinical syndrome", "MONDO:0006050": "pleomorphic breast carcinoma", "MONDO:0024651": "corticosteroid-induced osteoporosis", "MONDO:0024308": "pseudoxanthoma elasticum (inherited or acquired)", "MONDO:0005262": "central nervous system cyst (disease)", "MONDO:0002440": "erythropoietin polycythemia", "MONDO:0004225": "monoclonal gammopathy of uncertain significance", "MONDO:0002698": "testicular gonadoblastoma (disease)", "MONDO:0002665": "extrahepatic bile duct adenocarcinoma", "MONDO:0003068": "postauricular lymphadenitis", "MONDO:0004059": "dentin sensitivity", "MONDO:0044907": "metastatic squamous cell carcinoma", "MONDO:0010643": "acute leukemia (disease)", "MONDO:0020633": "anaplastic cancer", "MONDO:0020600": "acute pharyngitis", "MONDO:0001832": "bacterial esophagitis", "MONDO:0024953": "lameness, non-human animal", "MONDO:0025096": "malignant catarrh", "MONDO:0010768": "gonadoblastoma", "MONDO:0003593": "breast liposarcoma", "MONDO:0045054": "cancer-related condition", "MONDO:0001188": "esophagus lymphoma", "MONDO:0021257": "glomus jugulare neoplasm", "MONDO:0002648": "mammary Paget disease", "MONDO:0004532": "auditory system cancer", "MONDO:0001770": "gastrin secretion abnormality", "MONDO:0003021": "central nervous system angiosarcoma", "MONDO:0003299": "colorectal leiomyoma", "MONDO:0023267": "goldstein hutt syndrome", "MONDO:0002765": "plantar verrucous skin carcinoma", "MONDO:0005430": "early onset hypertension", "MONDO:0001012": "breast fibroadenosis", "MONDO:0022394": "cervical intraepithelial neoplasia", "MONDO:0005865": "mushroom workers' lung", "MONDO:0006589": "occupational dermatitis", "MONDO:0003964": "myositis ossificans", "MONDO:0003900": "connective tissue disease", "MONDO:0006394": "rectal tubular adenoma", "MONDO:0003707": "distal biliary tract carcinoma", "MONDO:0022676": "cataract - glaucoma", "MONDO:0001561": "pyloric stenosis (disease)", "MONDO:0002375": "sebaceous adenoma", "MONDO:0001453": "senile reticular retinal degeneration", "MONDO:0001089": "acute inferolateral myocardial infarction", "MONDO:0004475": "thymus clear cell carcinoma", "MONDO:0006421": "small intestinal tubular adenoma", "MONDO:0003278": "inner ear cancer", "MONDO:0004804": "dacryoadenitis", "MONDO:0040677": "invasive carcinoma", "MONDO:0000513": "bone ameloblastoma", "MONDO:0006167": "combined lung carcinoma", "MONDO:0043352": "fournier gangrene", "MONDO:0004258": "female orgasmic disorder", "MONDO:0001244": "vitamin K deficiency hemorrhagic disease", "MONDO:0025303": "anaplasmosis", "MONDO:0006217": "gallbladder adenosquamous carcinoma", "MONDO:0001565": "abnormal retinal correspondence", "MONDO:0021300": "adenoid cystic carcinoma of oropharynx", "MONDO:0004474": "gallbladder lymphoma", "MONDO:0003746": "ciliary body spindle cell melanoma", "MONDO:0001593": "rectal disease", "MONDO:0007008": "uremia", "MONDO:0024574": "von Willebrand disease (hereditary or acquired)", "MONDO:0045031": "infectious diarrheal disease", "MONDO:0002221": "urethral urothelial papilloma", "MONDO:0000716": "agraphia", "MONDO:0003551": "thymic adenosquamous carcinoma", "MONDO:0001969": "mixed gonadal dysgenesis", "MONDO:0000633": "sensory organ benign neoplasm", "MONDO:0019206": "sparse hair-short stature-skin anomalies syndrome", "MONDO:0003670": "posteroinferior myocardial infarction", "MONDO:0006835": "lipoid nephrosis", "MONDO:0001155": "gastrojejunal ulcer", "MONDO:0003106": "verrucous keratotic hemangioma", "MONDO:0022623": "CDK4 linked melanoma", "MONDO:0023288": "green sandford davison syndrome", "MONDO:0001517": "dysentery", "MONDO:0000440": "metabolic acidosis", "MONDO:0004700": "parotid gland cancer", "MONDO:0043283": "silicosiderosis", "MONDO:0002715": "uterine cancer", "MONDO:0100022": "neonatal/infantile epilepsy syndrome", "MONDO:0002353": "glottis neoplasm", "MONDO:0004974": "adrenal gland pheochromocytoma", "MONDO:0005561": "aortic disease", "MONDO:0021525": "benign neoplasm of corpus uteri", "MONDO:0001285": "endometriosis of pelvic peritoneum", "MONDO:0006650": "anterior spinal artery syndrome", "MONDO:0002616": "mesenchymal cell neoplasm", "MONDO:0023246": "linear porokeratosis", "MONDO:0001427": "Dieulafoy lesion", "MONDO:0006301": "metanephric adenoma", "MONDO:0004757": "chronic ethmoidal sinusitis", "MONDO:0001093": "colonic lymphangioma", "MONDO:0021804": "silicotuberculosis", "MONDO:0003659": "pediatric lymphoma", "MONDO:0001588": "chronic lacrimal gland enlargement", "MONDO:0000840": "dysbaric osteonecrosis", "MONDO:0005034": "thyroid gland follicular carcinoma", "MONDO:0005872": "nervous system cancer", "MONDO:0044923": "acute myeloid leukemia with mutated NPM1", "MONDO:0030702": "autoimmune atherosclerosis", "MONDO:0001785": "malignant secondary hypertension", "MONDO:0041366": "acute epiglottitis", "MONDO:0005885": "optic neuritis", "MONDO:0042912": "Schlegelberger-Grote syndrome", "MONDO:0000498": "arteritic anterior ischemic optic neuropathy", "MONDO:0042726": "macrogyria, pseudobulbar palsy and mental retardation", "MONDO:0025431": "keratoconjunctivitis, infectious", "MONDO:0006874": "obstructive jaundice", "MONDO:0001746": "optic disk drusen", "MONDO:0043468": "acne keloid", "MONDO:0001946": "hyperestrogenism", "MONDO:0004420": "breast malignant eccrine spiradenoma", "MONDO:0003995": "vulvar childhood botryoid-type embryonal rhabdomyosarcoma", "MONDO:0021490": "benign neoplasm of sebaceous gland", "MONDO:0004913": "alternating esotropia", "MONDO:0002786": "diencephalic cancer", "MONDO:0000393": "partial fetal alcohol syndrome", "MONDO:0006304": "minor salivary gland adenocarcinoma", "MONDO:0044981": "pseudoallergy", "MONDO:0006160": "colorectal hamartoma", "MONDO:0002372": "ovarian monodermal and highly specialized teratoma", "MONDO:0000062": "isolated microphthalmia", "MONDO:0024282": "mucinous ovarian cancer", "MONDO:0020175": "malignant tumor of palpebral epidermis", "MONDO:0004311": "carcinoma of Cowper glands", "MONDO:0004534": "microglandular adenosis of breast", "MONDO:0005384": "partial epilepsy", "MONDO:0004360": "breast extraskeletal osteosarcoma", "MONDO:0002364": "Wolffian duct adenoma", "MONDO:0007714": "migraine, familial hemiplegic, 1", "MONDO:0006926": "haemophilus infectious disease", "MONDO:0002014": "autosomal recessive Ehlers-Danlos syndrome, vascular type", "MONDO:0006026": "urinary bladder disease", "MONDO:0003543": "trigeminal nerve disease", "MONDO:0006965": "secondary hypertrophic osteoarthropathy", "MONDO:0017125": "oculofaciocardiodental syndrome", "MONDO:0003954": "angiokeratoma of Fordyce", "MONDO:0006355": "parotid gland acinic cell carcinoma", "MONDO:0006834": "lip cancer", "MONDO:0003879": "ovarian endometrioid adenocarcinofibroma", "MONDO:0003719": "renal pelvis neoplasm", "MONDO:0005591": "pit and fissure surface dental caries", "MONDO:0022509": "asternia", "MONDO:0003286": "extrahepatic bile duct leiomyoma", "MONDO:0001628": "tinea unguium", "MONDO:0024610": "parasitic skin disease", "MONDO:0001401": "female breast nipple and areola cancer", "MONDO:0000090": "progressive external ophthalmoplegia with mitochondrial DNA deletions", "MONDO:0002856": "gallbladder rhabdomyosarcoma", "MONDO:0001396": "abnormal threshold of rods", "MONDO:0022071": "carbon baby syndrome", "MONDO:0010766": "46,XX testicular disorder of sex development", "MONDO:0001552": "dyscalculia (disease)", "MONDO:0000461": "nutritional biotin deficiency", "MONDO:0022855": "congenital vagal hyperreflexivity", "MONDO:0003827": "transient hypogammaglobulinemia", "MONDO:0005295": "intermittent vascular claudication", "MONDO:0002462": "glomerulonephritis (disease)", "MONDO:0000307": "parasitic Ichthyosporea infectious disease", "MONDO:0004168": "cribriform variant testicular seminoma", "MONDO:0000527": "colon adenoma", "MONDO:0003723": "blunt duct adenosis of breast", "MONDO:0004524": "atypical follicular adenoma", "MONDO:0001913": "oligospermia", "MONDO:0021964": "bagatelle Cassidy syndrome", "MONDO:0006081": "anal melanoma", "MONDO:0022841": "congenital hypotrichosis milia", "MONDO:0001730": "urethral syndrome", "MONDO:0021826": "aerobic Actinomyces infection", "MONDO:0001783": "endometrial stromal nodule", "MONDO:0022839": "congenital human immunodeficiency virus", "MONDO:0037002": "benign phyllodes tumor", "MONDO:0002491": "substance abuse", "MONDO:0003997": "colon Kaposi sarcoma", "MONDO:0001005": "kaolin pneumoconiosis", "MONDO:0001864": "residual stage angle-closure glaucoma", "MONDO:0002252": "granulomatous hepatitis", "MONDO:0001037": "ring corneal ulcer", "MONDO:0010715": "pseudohermaphroditism, incomplete male, type 1", "MONDO:0022510": "atlanto-axial fusion", "MONDO:0004930": "steroid-induced glaucoma", "MONDO:0001688": "toxic optic neuropathy", "MONDO:0023148": "fetal phenothiazine syndrome", "MONDO:0014315": "Mitchell-Riley syndrome", "MONDO:0005697": "cerebral toxoplasmosis", "MONDO:0003690": "adult anaplastic ependymoma", "MONDO:0043206": "trichostasis spinulosa", "MONDO:0024339": "lymph node neoplasm", "MONDO:0022991": "diploid-triploid mosaicism", "MONDO:0025512": "type II hypersensitivity reaction disease", "MONDO:0006191": "endometrial clear cell adenocarcinoma", "MONDO:0001858": "Tietze syndrome", "MONDO:0001769": "acquired tear duct stenosis", "MONDO:0004383": "adult central nervous system germinoma", "MONDO:0000284": "Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type", "MONDO:0004626": "Hodgkin's paragranuloma", "MONDO:0003358": "anus leiomyosarcoma", "MONDO:0005155": "cirrhosis of liver", "MONDO:0022919": "cytokine receptor deficiency", "MONDO:0020067": "infectious encephalitis", "MONDO:0021094": "immunodeficiency disease", "MONDO:0022781": "cleft lip palate-tetraphocomelia", "MONDO:0006697": "Chlamydophila infectious disease", "MONDO:0001335": "hypotrichosis of eyelid", "MONDO:0021727": "aberrant subclavian artery", "MONDO:0001932": "atrophic vulva", "MONDO:0005340": "alopecia areata", "MONDO:0001548": "hepatic coma", "MONDO:0005386": "peripheral arterial disease", "MONDO:0006993": "systolic heart failure", "MONDO:0002309": "papillary conjunctivitis", "MONDO:0006573": "lipodystrophy (disease)", "MONDO:0044980": "disease of signal transduction", "MONDO:0037736": "infratentorial neoplasm", "MONDO:0043170": "Pavone Fiumara Rizzo syndrome", "MONDO:0006049": "papillary lung adenocarcinoma", "MONDO:0001562": "displacement of cardia through esophageal hiatus", "MONDO:0005923": "Pneumocystis infectious disease", "MONDO:0001834": "visual pathway disease", "MONDO:0003194": "hemangioma of lung", "MONDO:0002175": "degeneration of macula and posterior pole", "MONDO:0001627": "dementia", "MONDO:0021444": "benign neoplasm of large intestine", "MONDO:0005157": "lymphoid neoplasm", "MONDO:0037871": "amino acid metabolism disease", "MONDO:0002012": "methylmalonic acidemia", "MONDO:0043494": "arteritis", "MONDO:0022653": "cardiomyopathy due to anthracyclines", "MONDO:0011643": "permanent neonatal diabetes mellitus", "MONDO:0003100": "nerve plexus neoplasm", "MONDO:0003406": "sleep-wake disorder", "MONDO:0006480": "undifferentiated pleomorphic sarcoma, inflammatory variant", "MONDO:0022559": "benign angiitis of the central nervous system", "MONDO:0003285": "fallopian tube leiomyoma", "MONDO:0002623": "pediatric osteosarcoma", "MONDO:0004939": "hallucinogen dependence", "MONDO:0001804": "anterior scleritis", "MONDO:0003858": "anterior optic tract meningioma", "MONDO:0005098": "stroke disorder", "MONDO:0002362": "serous surface papilloma", "MONDO:0001563": "vestibulocochlear nerve disease", "MONDO:0021101": "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor", "MONDO:0043314": "aquarium granuloma", "MONDO:0021090": "lipid-rich breast carcinoma", "MONDO:0004160": "female stress incontinence", "MONDO:0004454": "cellular congenital mesoblastic nephroma", "MONDO:0022918": "cytokine deficiency", "MONDO:0002779": "central nervous system chondroma", "MONDO:0005468": "hypotension (disease)", "MONDO:0001863": "aorta atresia", "MONDO:0006516": "sarcopenia", "MONDO:0005813": "interdigitating dendritic cell sarcoma", "MONDO:0023226": "gershinibaruch Leibo syndrome", "MONDO:0002338": "extratemporal epilepsy", "MONDO:0023186": "Fraser Jequier Chen syndrome", "MONDO:0023153": "tuberculous ascites", "MONDO:0020673": "arterial occlusion", "MONDO:0044684": "tuberculous meningitis", "MONDO:0010624": "ichthyosis follicularis-alopecia-photophobia syndrome", "MONDO:0003842": "childhood cerebellar astrocytic neoplasm", "MONDO:0001681": "diphtheritic cystitis", "MONDO:0006137": "cervical intraepithelial neoplasia grade 2/3", "MONDO:0001788": "nutmeg liver", "MONDO:0012279": "congenital muscular dystrophy merosin-positive", "MONDO:0002387": "liver angiosarcoma", "MONDO:0012616": "MRT8", "MONDO:0003620": "peripheral nervous system disease", "MONDO:0023258": "glycogen storage disease type 1 due to SLC37A4 mutation", "MONDO:0003589": "liposarcoma of the ovary", "MONDO:0003831": "type 2 papillary adenoma of the kidney", "MONDO:0003172": "glomeruloid hemangioma", "MONDO:0022622": "CDG syndrome type 4", "MONDO:0002311": "retinal vascular disease", "MONDO:0006787": "hidrocystoma", "MONDO:0100024": "self-limited familial and non-familial infantile seizures", "MONDO:0021977": "basaloid follicular hamartoma", "MONDO:0008033": "autosomal dominant limb-girdle muscular dystrophy type 1B", "MONDO:0005778": "haemonchiasis", "MONDO:0021390": "polyp of ureter", "MONDO:0002795": "adult central nervous system primitive neuroectodermal neoplasm", "MONDO:0001976": "chorea gravidarum", "MONDO:0003767": "mitral valve disease", "MONDO:0003374": "laryngeal leiomyosarcoma", "MONDO:0024298": "vitamin deficiency disorder", "MONDO:0000739": "uvulitis", "MONDO:0001898": "optic choroid disease", "MONDO:0002920": "malignant ovarian Brenner tumor", "MONDO:0004338": "retinal cell cancer", "MONDO:0003913": "choroid mixed cell melanoma", "MONDO:0023209": "galactorrhoea-hyperprolactinaemia", "MONDO:0005603": "pancreatic tubular adenocarcinoma", "MONDO:0021379": "neoplasm of epicardium", "MONDO:0024284": "demodicidosis of sebaceous gland", "MONDO:0003280": "swayback", "MONDO:0001764": "ethmoidal sinus neoplasm", "MONDO:0005989": "toxoplasmosis", "MONDO:0003507": "choriocarcinoma of ovary", "MONDO:0021461": "benign neoplasm of hypopharynx", "MONDO:0003604": "functioning pituitary gland neoplasm", "MONDO:0020663": "malignant spindle cell neoplasm", "MONDO:0022913": "cutler bass Romshe syndrome", "MONDO:0004956": "metastatic prostate carcinoma", "MONDO:0000643": "vulvar benign neoplasm", "MONDO:0001308": "corneal deposit", "MONDO:0003307": "multiple mucosal neuroma", "MONDO:0001009": "solitary cyst of breast", "MONDO:0001122": "chronic maxillary sinusitis", "MONDO:0001510": "lateral displacement of eye", "MONDO:0005348": "keloid", "MONDO:0001931": "pericholangitis", "MONDO:0022859": "cor biloculare", "MONDO:0002143": "vaginal yolk sac tumor", "MONDO:0023038": "eccentrochondrodysplasia", "MONDO:0006496": "palsy", "MONDO:0004989": "breast carcinoma", "MONDO:0006617": "vesiculobullous skin disease", "MONDO:0005641": "aleutian mink disease", "MONDO:0021038": "Ewing sarcoma/peripheral primitive neuroectodermal tumor", "MONDO:0022895": "craniosynostosis cleft lip palate arthrogryposis", "MONDO:0002085": "benign shuddering attacks", "MONDO:0042605": "Y chromosome infertility due to DAZ1 deletion", "MONDO:0002217": "central nervous system sarcoma", "MONDO:0021063": "malignant colon neoplasm", "MONDO:0006161": "colorectal juvenile polyp", "MONDO:0004500": "lung superior sulcus carcinoma", "MONDO:0006438": "synovial chondromatosis", "MONDO:0002572": "aspiration pneumonitis", "MONDO:0001298": "congenital mitral valve insufficiency", "MONDO:0005372": "male infertility", "MONDO:0002758": "vulva verrucous carcinoma", "MONDO:0003932": "childhood optic nerve glioma", "MONDO:0002857": "gallbladder sarcoma", "MONDO:0003859": "bilateral meningioma of optic nerve", "MONDO:0001024": "pneumonic plague", "MONDO:0004548": "adult type testicular granulosa cell tumor", "MONDO:0023567": "Kozlowski Brown Hardwick syndrome", "MONDO:0003923": "ethmoid sinus Schneiderian papilloma", "MONDO:0025485": "feline acquired immunodeficiency syndrome", "MONDO:0002552": "vascular myelopathy", "MONDO:0011692": "IBGC2", "MONDO:0001114": "bacterial myocarditis", "MONDO:0002301": "frontal sinus squamous cell carcinoma", "MONDO:0022587": "bone dysplasia corpus callosum agenesis", "MONDO:0021223": "digestive system neoplasm", "MONDO:0043555": "infantile diarrhea", "MONDO:0001704": "vaginal glandular neoplasm", "MONDO:0004147": "noninvasive malignant thymoma", "MONDO:0015078": "gastroenteropancreatic neuroendocrine neoplasm", "MONDO:0002251": "hepatitis", "MONDO:0003447": "clear cell hidradenoma", "MONDO:0020866": "nasopharyngeal diphtheria", "MONDO:0006243": "hepatoid adenocarcinoma", "MONDO:0004595": "acute pulmonary heart disease", "MONDO:0023820": "Moebius axonal neuropathy hypogonadism", "MONDO:0004744": "borderline glaucoma", "MONDO:0001590": "quadriplegia", "MONDO:0001825": "squamous papilloma", "MONDO:0005219": "breast fibrocystic disease", "MONDO:0002555": "trigeminal schwannoma", "MONDO:0005871": "Nematoda infectious disease", "MONDO:0001236": "appendiceal neoplasm", "MONDO:0056805": "benign peripheral nerve granular cell tumor", "MONDO:0042973": "familial osteosclerosis", "MONDO:0044210": "thalassemia minor", "MONDO:0002159": "fallopian tube leiomyosarcoma", "MONDO:0044083": "alternariosis", "MONDO:0043230": "ciguatera fish poisoning", "MONDO:0005730": "Dictyocaulus infectious disease", "MONDO:0022417": "alopecia congenita keratosis palmoplantaris", "MONDO:0023419": "hyperprolinemia", "MONDO:0022311": "cote katsantoni syndrome", "MONDO:0045011": "keratinization disease", "MONDO:0000539": "striated muscle rhabdoid tumor", "MONDO:0001316": "streptococcal meningitis", "MONDO:0025152": "non-human ape disease", "MONDO:0005779": "hand, foot and mouth disease", "MONDO:0003835": "gastric cardia adenocarcinoma", "MONDO:0001340": "heart cancer", "MONDO:0002692": "intracranial sinus thrombosis", "MONDO:0005576": "cryoglobulinemia", "MONDO:0003467": "mediastinum synovial sarcoma", "MONDO:0024323": "glomangiomyoma", "MONDO:0001997": "root resorption", "MONDO:0004088": "cervical basaloid carcinoma", "MONDO:0003569": "cranial nerve neuropathy", "MONDO:0001988": "external pathological resorption", "MONDO:0006753": "Escherichia coli meningitis", "MONDO:0001665": "oculoglandular tularemia", "MONDO:0021658": "vascular ectasia", "MONDO:0002871": "testicular trophoblastic tumor", "MONDO:0043251": "odontoma", "MONDO:0005480": "contact dermatitis", "MONDO:0002472": "carcinoma ex pleomorphic adenoma", "MONDO:0021697": "chlamydia infectious disease", "MONDO:0002249": "thrombocytosis disease", "MONDO:0006249": "hyperplastic polyp", "MONDO:0041850": "pneumonia caused by gram negative bacteria", "MONDO:0045013": "disease of extraembryonic membrane", "MONDO:0005231": "hepatitis C infection", "MONDO:0001213": "serous glue ear", "MONDO:0024312": "cancer of short bone of upper limb", "MONDO:0003392": "fallopian tube germ cell tumor", "MONDO:0001668": "internal pathological resorption of tooth", "MONDO:0021245": "oral cavity neoplasm", "MONDO:0005766": "fungal lung infectious disease", "MONDO:0021477": "benign neoplasm of sphenoidal sinus", "MONDO:0001198": "acquired thrombocytopenia", "MONDO:0001080": "acute gonococcal cervicitis", "MONDO:0002706": "cervix endometriosis", "MONDO:0007264": "sudden cardiac arrest", "MONDO:0001306": "recurrent corneal erosion", "MONDO:0001516": "spinal muscular atrophy", "MONDO:0044785": "desmoplastic melanoma", "MONDO:0001174": "conjunctival vascular disease", "MONDO:0004080": "glottis squamous cell carcinoma", "MONDO:0006676": "beriberi", "MONDO:0000945": "venous insufficiency (disease)", "MONDO:0021750": "pyonephrosis", "MONDO:0006320": "non-cutaneous melanoma", "MONDO:0000152": "thiamine-responsive dysfunction syndrome", "MONDO:0001943": "Plasmodium malariae malaria", "MONDO:0022963": "desmoplastic infantile astrocytoma", "MONDO:0005448": "hepatitis C induced liver cirrhosis", "MONDO:0043168": "panostotic fibrous dysplasia", "MONDO:0000408": "fetal alcohol spectrum disorder", "MONDO:0005437": "testicular dysgenesis syndrome", "MONDO:0021117": "lung neoplasm", "MONDO:0003319": "scrotum neoplasm", "MONDO:0001811": "tetanic cataract", "MONDO:0002496": "submucosal invasive colon adenocarcinoma", "MONDO:0015062": "gastric neuroendocrine tumor, well differentiated, low or intermediate grade", "MONDO:0005896": "Paramyxoviridae infectious disease", "MONDO:0005717": "contagious pustular dermatitis", "MONDO:0005859": "mucocutaneous leishmaniasis", "MONDO:0025598": "pneumonia caused by chlamydia", "MONDO:0024305": "acquired hyperprolactinemia", "MONDO:0001395": "macular keratitis", "MONDO:0016025": "myoclonic-astastic epilepsy", "MONDO:0021513": "benign neoplasm of tonsil", "MONDO:0003637": "clear cell-sugar-tumor of the lung", "MONDO:0004056": "bladder papillary urothelial carcinoma", "MONDO:0000934": "laryngeal leiomyoma", "MONDO:0011526": "Sebastian syndrome", "MONDO:0022798": "Cohen lockood wyborney syndrome", "MONDO:0003390": "glycogen-rich clear cell breast carcinoma", "MONDO:0005246": "osteomyelitis (disease)", "MONDO:0043693": "alcoholic liver diseases", "MONDO:0002637": "histiocytosis", "MONDO:0004645": "cheek mucosa cancer", "MONDO:0001527": "conjugate gaze palsy", "MONDO:0022874": "corpus callosum dysgenesis hypopituitarism", "MONDO:0000597": "Munchausen by proxy", "MONDO:0003321": "hereditary Wilms' tumor", "MONDO:0008698": "achalasia (disease)", "MONDO:0006094": "Askin tumor", "MONDO:0002929": "pulmonary immaturity", "MONDO:0004563": "physiological polycythemia", "MONDO:0005106": "lipoma", "MONDO:0000892": "colon medullary carcinoma", "MONDO:0021909": "aplasia cutis congenita recessive", "MONDO:0003249": "pineal gland cancer", "MONDO:0013804": "intellectual disability, autosomal dominant 12", "MONDO:0006693": "cerebral arterial disease", "MONDO:0006075": "adrenal gland myelolipoma", "MONDO:0043110": "jones hersh yusk syndrome", "MONDO:0019777": "Carpenter-Waziri syndrome", "MONDO:0002971": "amelanotic melanoma", "MONDO:0003860": "cerebellopontine angle meningioma", "MONDO:0001156": "borderline personality disorder (disease)", "MONDO:0041752": "paucibacillary leprosy", "MONDO:0025412": "feline panleukopenia", "MONDO:0001760": "photokeratitis", "MONDO:0021699": "alcohol-induced disorders", "MONDO:0022897": "craniosynostosis exostoses nevus epibulbar dermoid", "MONDO:0006931": "pulmonary coin lesion", "MONDO:0004696": "larynx carcinoma in situ", "MONDO:0006484": "usual ductal breast hyperplasia", "MONDO:0044872": "dysautonomia", "MONDO:0000710": "gastroduodenal Crohn disease", "MONDO:0003455": "bile duct papillary neoplasm", "MONDO:0004853": "gonococcal endophthalmia", "MONDO:0000621": "immune system cancer", "MONDO:0003502": "ureter squamous cell carcinoma", "MONDO:0002006": "serous labyrinthitis", "MONDO:0021515": "benign neoplasm of ethmoidal sinus", "MONDO:0021275": "papilloma of eyelid", "MONDO:0002114": "pancreas lymphoma", "MONDO:0003765": "adult leptomeningeal melanoma", "MONDO:0003672": "posterior myocardial infarction", "MONDO:0005560": "brain disease", "MONDO:0004496": "myocarditis", "MONDO:0001962": "abnormality of glucagon secretion", "MONDO:0006764": "fungal meningitis", "MONDO:0036595": "ovarian Sertoli-Leydig cell tumor", "MONDO:0021375": "tumor of duodenum", "MONDO:0002649": "scrotum Paget disease", "MONDO:0003043": "extraskeletal mesenchymal chondrosarcoma", "MONDO:0001965": "sclerosing keratitis", "MONDO:0001357": "hypochromic anemia (disease)", "MONDO:0006830": "leukoplakia of penis", "MONDO:0005240": "kidney disease", "MONDO:0004686": "lattice corneal dystrophy (disease)", "MONDO:0021492": "benign neoplasm of major salivary gland", "MONDO:0045044": "ligament disease", "MONDO:0017959": "JMP syndrome", "MONDO:0024278": "proctocolitis", "MONDO:0005602": "ovarian teratoma", "MONDO:0004260": "peptic ulcer perforation", "MONDO:0023015": "duodenal atresia tetralogy of fallot", "MONDO:0006463": "thyroid gland mucoepidermoid carcinoma", "MONDO:0004436": "ovarian myxoid liposarcoma", "MONDO:0005635": "adenomyoma", "MONDO:0060778": "adult Fanconi syndrome", "MONDO:0003522": "male orgasm disorder", "MONDO:0003066": "submandibular adenitis", "MONDO:0002580": "orbit rhabdomyosarcoma", "MONDO:0004682": "retromolar area cancer", "MONDO:0002666": "pancreatic signet ring cell adenocarcinoma", "MONDO:0004549": "cork-handlers' disease", "MONDO:0006816": "arthropathy", "MONDO:0044338": "autoimmune primary ovarian failure", "MONDO:0004205": "lymphohistiocytoid mesothelioma", "MONDO:0043892": "prosthesis-related infectious disease", "MONDO:0042496": "ergotism", "MONDO:0044213": "acute idiopathic urticaria", "MONDO:0005953": "scirrhous adenocarcinoma", "MONDO:0043475": "Adams-Stokes syndrome", "MONDO:0023599": "mesomelic dysplasia", "MONDO:0000407": "malignant pleural solitary fibrous tumor", "MONDO:0001196": "psychologic dyspareunia", "MONDO:0006563": "inverted follicular keratosis", "MONDO:0004636": "lip carcinoma in situ", "MONDO:0023273": "pigmented dermatofibrosarcoma protuberans", "MONDO:0043783": "sclerema neonatorum", "MONDO:0002534": "fallopian tube papilloma", "MONDO:0021084": "vision disorder", "MONDO:0002307": "blepharoconjunctivitis", "MONDO:0006715": "coronary stenosis", "MONDO:0037743": "mediastinal soft tissue cancer", "MONDO:0043771": "radiodermatitis", "MONDO:0002854": "prostate sarcoma", "MONDO:0024249": "pityriasis lichenoides", "MONDO:0004564": "thyroid malformation", "MONDO:0001701": "gastrointestinal anthrax", "MONDO:0002320": "congenital nervous system disorder", "MONDO:0006674": "benign fibrous mesothelioma", "MONDO:0042983": "neurocutaneous syndrome", "MONDO:0001025": "seminal vesicle chronic gonorrhea", "MONDO:0021160": "gonococcal cystitis", "MONDO:0021559": "non-autoimmune hemolytic anemia", "MONDO:0001384": "myopia (disease)", "MONDO:0022831": "congenital heart disease ptosis hypodontia craniostosis", "MONDO:0005023": "ductal breast carcinoma in situ", "MONDO:0006288": "malignant adrenal gland pheochromocytoma", "MONDO:0014980": "cone-rod dystrophy and hearing loss", "MONDO:0006938": "pyelitis", "MONDO:0001100": "hypertrophy of breast", "MONDO:0023193": "Friedman Goodman syndrome", "MONDO:0021316": "malignant tumor of minor salivary gland", "MONDO:0005555": "cycloplegia", "MONDO:0000316": "opportunistic bacterial infectious disease", "MONDO:0002246": "perichondritis of auricle", "MONDO:0002133": "chronic rheumatic pericarditis", "MONDO:0020703": "erythroid neoplasm", "MONDO:0005217": "familial cardiomyopathy", "MONDO:0003612": "uterine ligament cancer", "MONDO:0024459": "Aeromonas hydrophila intestinal disease", "MONDO:0004058": "pancreatic cholera", "MONDO:0022423": "alpha-2 deficient collagen disease", "MONDO:0004243": "vulvar proximal-type epithelioid sarcoma", "MONDO:0004440": "pineal region meningioma", "MONDO:0044881": "hematopoietic and lymphoid cell neoplasm", "MONDO:0002058": "breast adenoma", "MONDO:0022094": "cartwright Nelson Fryns syndrome", "MONDO:0001666": "retinal dystrophies primarily involving Bruch's membrane", "MONDO:0003046": "anus neoplasm", "MONDO:0004609": "herpes simplex infectious disease", "MONDO:0002918": "clear cell meningioma", "MONDO:0004950": "gastric carcinoma", "MONDO:0005656": "Ascaridida infectious disease", "MONDO:0002754": "extramedullary plasmacytoma", "MONDO:0021765": "radiculitis", "MONDO:0002289": "iris disease", "MONDO:0020591": "disease of peritoneum", "MONDO:0043529": "carcinoid heart disease", "MONDO:0001722": "central pterygium", "MONDO:0004750": "language disorder", "MONDO:0000981": "Histoplasma pericarditis", "MONDO:0003748": "flying phobia", "MONDO:0000237": "erysipeloid", "MONDO:0005510": "hydronephrosis", "MONDO:0022945": "deafness peripheral neuropathy arterial disease", "MONDO:0013958": "monocyte and dendritic cell deficiency, autosomal recessive", "MONDO:0006365": "Peutz-Jeghers polyp", "MONDO:0000811": "anomalous left coronary artery from the pulmonary artery", "MONDO:0020760": "skin squamous cell carcinoma in situ", "MONDO:0002678": "pediatric fibrosarcoma", "MONDO:0006285": "major salivary gland carcinoma ex pleomorphic adenoma", "MONDO:0023041": "ectodermal dysplasia Berlin type", "MONDO:0021388": "neoplasm of chest wall", "MONDO:0006035": "gastric tubular adenocarcinoma", "MONDO:0006595": "perinatal jaundice due to hepatocellular damage", "MONDO:0003687": "endocardium cancer", "MONDO:0006145": "chondroid chordoma", "MONDO:0044618": "CLCN4-related X-linked intellectual disability syndrome", "MONDO:0002220": "tooth hard tissue disease", "MONDO:0003567": "bilateral hypoactive labyrinth", "MONDO:0006781": "Helicobacter pylori infectious disease", "MONDO:0001404": "ecthyma", "MONDO:0005336": "myopathy", "MONDO:0001559": "perineocele", "MONDO:0001592": "prolapse of female genital organ", "MONDO:0021654": "diffuse cutaneous mucinosis", "MONDO:0004547": "reticular pattern testicular yolk sac tumor", "MONDO:0002512": "papillary adenocarcinoma", "MONDO:0004657": "disseminated chorioretinitis", "MONDO:0004883": "hereditary choroidal atrophy", "MONDO:0004305": "parathyroid oncocytic adenoma", "MONDO:0000367": "taeniasis", "MONDO:0023573": "Kozlowski Warren Fisher syndrome", "MONDO:0006134": "cervical adenosquamous carcinoma", "MONDO:0005594": "severe cutaneous adverse reaction", "MONDO:0005286": "palatal neoplasm", "MONDO:0000649": "sensory system cancer", "MONDO:0003169": "diencephalic astrocytomas", "MONDO:0001614": "intra-abdominal lymph node mast cell malignancy", "MONDO:0022535": "autonomic facial cephalgia", "MONDO:0001557": "olecranon bursitis", "MONDO:0003244": "central nervous system mesenchymal non-meningothelial tumor", "MONDO:0006672": "balanitis", "MONDO:0001985": "partial arterial retinal occlusion", "MONDO:0020830": "diaphragmitis", "MONDO:0004357": "carcinoma of supraglottis", "MONDO:0025129": "swine erysipelas", "MONDO:0002308": "giant papillary conjunctivitis", "MONDO:0001848": "Morgagni cataract", "MONDO:0005323": "bacterial sexually transmitted disease", "MONDO:0044101": "pregnancy, cornual", "MONDO:0024271": "intestinal helminthiasis", "MONDO:0002321": "sensory peripheral neuropathy", "MONDO:0003077": "intraocular retinoblastoma", "MONDO:0043895": "ankle injury", "MONDO:0003382": "eyelid disease", "MONDO:0002275": "generalized atherosclerosis", "MONDO:0006151": "colon dysplasia", "MONDO:0005790": "hepatitis A infection", "MONDO:0022089": "Carnevale hernandez castillo syndrome", "MONDO:0001349": "odontoclasia", "MONDO:0002736": "ampulla of vater mucinous adenocarcinoma", "MONDO:0045046": "inherited thyroid metabolism disease", "MONDO:0005079": "polyp", "MONDO:0006388": "prolactin-producing pituitary gland carcinoma", "MONDO:0014695": "glioma susceptibility 9", "MONDO:0004522": "peritonitis", "MONDO:0037735": "sebaceous gland cancer", "MONDO:0002628": "peripheral osteosarcoma", "MONDO:0005866": "mycobacterium avium complex disease", "MONDO:0003601": "mediastinum liposarcoma", "MONDO:0004716": "stomach carcinoma in situ", "MONDO:0043953": "burkholderia infectious disease", "MONDO:0005139": "morbid obesity", "MONDO:0006856": "mesothelial neoplasm", "MONDO:0004204": "squamous cell skin papilloma", "MONDO:0024302": "internal hirudiniasis", "MONDO:0021240": "tongue neoplasm", "MONDO:0003432": "strabismus", "MONDO:0004359": "delusional disorder", "MONDO:0003271": "iodine hypothyroidism", "MONDO:0001121": "frontal sinusitis", "MONDO:0006783": "hemopneumothorax", "MONDO:0005688": "campylobacteriosis", "MONDO:0005056": "keratinizing squamous cell carcinoma", "MONDO:0002238": "ascending colon cancer", "MONDO:0002656": "skin carcinoma", "MONDO:0005647": "anogenital human papillomavirus infection", "MONDO:0006102": "basaloid carcinoma", "MONDO:0001163": "paranoid personality disorder", "MONDO:0024642": "gastric neuroendocrine tumor G2", "MONDO:0020594": "abducens nerve disease", "MONDO:0003133": "exudative glomerulonephritis", "MONDO:0044887": "central nervous system non-hodgkin lymphoma", "MONDO:0003262": "rhabdoid meningioma", "MONDO:0001457": "secondary vitreoretinal degeneration", "MONDO:0021075": "neoplastic polyp", "MONDO:0024378": "circadian rhythm sleep disorder, advanced sleep phase type", "MONDO:0022672": "autosomal dominant cataract", "MONDO:0006659": "arteriosclerosis obliterans", "MONDO:0003069": "suppurative lymphadenitis", "MONDO:0006647": "anterior cerebral artery infarction", "MONDO:0012649": "FTSD", "MONDO:0022151": "Chitty Hall Webb syndrome", "MONDO:0001866": "bipolar I disorder", "MONDO:0001001": "baritosis", "MONDO:0003369": "vagina leiomyosarcoma", "MONDO:0004972": "adenoma", "MONDO:0002994": "pancreatic delta cell neuroendocrine tumor", "MONDO:0021667": "neuralgia", "MONDO:0003975": "Littre gland carcinoma", "MONDO:0002399": "tenosynovial giant cell tumor, localized type", "MONDO:0004586": "rheumatoid lung disease", "MONDO:0004085": "choroid epithelioid cell melanoma", "MONDO:0004026": "skin tag", "MONDO:0023757": "meralgia paresthetica", "MONDO:0002330": "alcoholic psychosis", "MONDO:0043172": "pfeiffer rockelein syndrome", "MONDO:0023368": "Ho-Kaufman-McAlister syndrome", "MONDO:0000707": "diversion colitis", "MONDO:0020863": "laryngeal diphtheria", "MONDO:0006111": "bladder flat intraepithelial lesion", "MONDO:0023100": "facial clefting corpus callosum agenesis", "MONDO:0002981": "peripheral primitive neuroectodermal tumor of bone", "MONDO:0021077": "cystic neoplasm", "MONDO:0002354": "benign laryngeal neoplasm", "MONDO:0000780": "apricot allergy", "MONDO:0024624": "atrophy of lacrimal gland", "MONDO:0001466": "punctate epithelial keratoconjunctivitis", "MONDO:0001442": "dysthymic disorder", "MONDO:0001487": "intrahepatic bile duct cancer", "MONDO:0005085": "pterygium", "MONDO:0006420": "small intestinal mucosa-associated lymphoid tissue lymphoma", "MONDO:0006555": "granulomatous dermatitis", "MONDO:0020420y": "pulmonary branch stenosis", "MONDO:0019482": "dendritic cell sarcoma not otherwise specified", "MONDO:0004402": "testicular yolk sac tumor, glandular-alveolar pattern", "MONDO:0002026": "candidiasis", "MONDO:0001566": "hypercalcemia disease", "MONDO:0003616": "salpingitis isthmica nodosa", "MONDO:0006380": "pleural sarcomatoid mesothelioma", "MONDO:0004810": "acute ethmoiditis", "MONDO:0017274": "autosomal ichthyosis syndrome with other associated signs", "MONDO:0003721": "kidney osteogenic sarcoma", "MONDO:0006746": "endomyocardial fibrosis", "MONDO:0004449": "intraductal breast myoepitheliosis", "MONDO:0029000": "poisoning", "MONDO:0004721": "liver neoplasm", "MONDO:0003250": "benign granular cell tumor", "MONDO:0043004": "Weil's disease", "MONDO:0001700": "megaloblastic anemia (disease)", "MONDO:0002683": "adult choroid plexus neoplasm", "MONDO:0006728": "discitis", "MONDO:0021340": "intertrigo", "MONDO:0003396": "epulis", "MONDO:0001914": "scleromalacia perforans", "MONDO:0000532": "lung combined type small cell adenocarcinoma", "MONDO:0000294": "mesocestoidiasis", "MONDO:0003291": "leiomyoma cutis", "MONDO:0040654": "autosomal dominant oculocutaneous albinism", "MONDO:0060649": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies", "MONDO:0001456": "cobblestone retinal degeneration", "MONDO:0001042": "patellar tendinitis", "MONDO:0005311": "atherosclerosis", "MONDO:0012281": "sarcoidosis, early-onset", "MONDO:0005416": "osteoarthritis, knee", "MONDO:0002862": "bile duct sarcoma", "MONDO:0000424": "inborn vitamin B12 deficiency (disease)", "MONDO:0005412": "duodenal ulcer (disease)", "MONDO:0023696": "Marinesco-Sjogren-like syndrome", "MONDO:0006771": "glossitis", "MONDO:0021045": "fibroepithelial neoplasm", "MONDO:0004505": "central breast papilloma", "MONDO:0024255": "genetic skin disease", "MONDO:0006385": "primary intraosseous squamous cell carcinoma", "MONDO:0000612": "lymphatic system cancer", "MONDO:0006964": "secondary hyperparathyroidism (disease)", "MONDO:0006580": "miliaria", "MONDO:0004991": "minimally invasive lung adenocarcinoma", "MONDO:0006354": "parathyroid hyperplasia (disease)", "MONDO:0002726": "cutaneous solitary mastocytoma", "MONDO:0020597": "angiokeratoma of scrotum", "MONDO:0004660": "lung carcinoma in situ", "MONDO:0022263": "congenital hepatic fibrosis", "MONDO:0045022": "disorder of organic acid metabolism", "MONDO:0005699": "cervicofacial actinomycosis", "MONDO:0001197": "qualitative platelet defect", "MONDO:0024954": "larva migrans, visceral", "MONDO:0006699": "choledocholithiasis", "MONDO:0001859": "algoneurodystrophy", "MONDO:0000958": "neuroretinitis", "MONDO:0025404": "enteritis, transmissible, of turkeys", "MONDO:0023065": "encephalopathy recurrent of childhood", "MONDO:0005032": "follicular thyroid adenoma", "MONDO:0009325": "deafness-enamel hypoplasia-nail defects syndrome", "MONDO:0005135": "parasitic infection", "MONDO:0300000": "SSR3-CDG", "MONDO:0044917": "T-lymphoblastic lymphoma", "MONDO:0025397": "distemper", "MONDO:0022060": "calloso-genital dysplasia", "MONDO:0022651": "cardiomyopathy dilated with conduction defect type 1", "MONDO:0006611": "skin sarcoidosis", "MONDO:0003413": "hair follicle neoplasm", "MONDO:0008657": "vibratory angioedema", "MONDO:0001084": "primary optic atrophy", "MONDO:0001733": "occlusion of tributary of retinal vein", "MONDO:0008159": "postmenopausal osteoporosis", "MONDO:0005068": "myocardial infarction (disease)", "MONDO:0003272": "mixed epithelial stromal tumor", "MONDO:0001115": "familial polycythemia", "MONDO:0004687": "severe nonproliferative diabetic retinopathy", "MONDO:0005004": "clear cell adenocarcinoma", "MONDO:0000940": "trypanosomiasis", "MONDO:0036781": "benign axillary neoplasm", "MONDO:0005848": "miliary tuberculosis", "MONDO:0006198": "endometrial squamous cell carcinoma", "MONDO:0021497": "benign neoplasm of cerebrum", "MONDO:0021809": "primary dysautonomia", "MONDO:0021193": "neuroepithelial neoplasm", "MONDO:0006973": "skin appendage carcinoma", "MONDO:0031012": "autoimmune uveitis", "MONDO:0044033": "posterior leukoencephalopathy syndrome", "MONDO:0007736": "HPA 1 Recognition polymorphism, beta-globin-related", "MONDO:0002805": "hidradenoma", "MONDO:0001241": "transient neonatal neutropenia", "MONDO:0019708": "primary bone dysplasia with disorganized development of skeletal components", "MONDO:0045003": "scrotal disease", "MONDO:0002771": "pulmonary fibrosis", "MONDO:0021829": "agnathia-microstomia-synotia", "MONDO:0021298": "carcinoma in situ of oropharynx", "MONDO:0023579": "Kuster Majewski Hammerstein syndrome", "MONDO:0002933": "osteosclerosis", "MONDO:0001518": "spastic entropion", "MONDO:0004313": "gasserian ganglion meningioma", "MONDO:0005196": "teratozoospermia", "MONDO:0002396": "nephrogenic adenofibroma", "MONDO:0000953": "cancer of short bone of lower limb", "MONDO:0004218": "childhood germ cell brain tumor", "MONDO:0006149": "clear cell papillary cystadenoma", "MONDO:0000406": "Brown-Vialetto-van Laere syndrome", "MONDO:0000417": "early onset absence epilepsy", "MONDO:0001715": "basilar artery occlusion", "MONDO:0018399": "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism", "MONDO:0004543": "enteric pattern testicular yolk sac tumor", "MONDO:0002583": "mucinous ovarian cystadenoma", "MONDO:0001608": "vagus nerve neoplasm", "MONDO:0000959": "malignant hypertensive renal disease", "MONDO:0004593": "Bartholin duct cyst", "MONDO:0002522": "tenosynovial giant cell tumor", "MONDO:0004854": "ophthalmia neonatorum", "MONDO:0006173": "conjunctival squamous cell carcinoma", "MONDO:0006545": "erythema multiforme", "MONDO:0001400": "schwannoma of ureter", "MONDO:0021668": "disorder involving pain", "MONDO:0003901": "cerebellar hemangioblastoma", "MONDO:0003070": "axillary lymphadenitis", "MONDO:0021396": "polyp of vulva", "MONDO:0045050": "nuclear cataract", "MONDO:0400005": "refeeding syndrome", "MONDO:0021486": "benign neoplasm of ciliary body", "MONDO:0024419": "enthesitis", "MONDO:0006039": "infectious colitis", "MONDO:0003708": "extrahepatic bile duct small cell adenocarcinoma", "MONDO:0005475": "migraine with aura", "MONDO:0005677": "Rickettsia conorii infectious disease", "MONDO:0004463": "cellular phase chronic idiopathic myelofibrosis", "MONDO:0022759": "trisomy 22", "MONDO:0043923": "lichen planus, oral", "MONDO:0024674": "Pancoast syndrome", "MONDO:0002039": "cognitive disorder", "MONDO:0002283": "neuroaxonal dystrophy", "MONDO:0001513": "pulsating exophthalmos", "MONDO:0000005": "alopecia, isolated", "MONDO:0004102": "columnar cell variant thyroid gland papillary carcinoma", "MONDO:0004640": "alcoholic gastritis", "MONDO:0001899": "rheumatic congestive heart failure", "MONDO:0003189": "middle ear adenocarcinoma", "MONDO:0006957": "root caries", "MONDO:0000797": "goat milk allergy", "MONDO:0003274": "thoracic cancer", "MONDO:0023305": "heavy metal poisoning", "MONDO:0000386": "digestive system neuroendocrine tumor, grade 1/2", "MONDO:0003740": "AIDS phobia", "MONDO:0006810": "intracranial hypertension", "MONDO:0003120": "mixed testicular germ cell cancer", "MONDO:0004844": "oral mucosa leukoplakia", "MONDO:0006581": "miliaria rubra", "MONDO:0003631": "cervical serous adenocarcinoma", "MONDO:0021937": "Asrar Facharzt Haque syndrome", "MONDO:0004092": "thymic basaloid carcinoma", "MONDO:0004242": "active peptic ulcer disease", "MONDO:0005618": "anxiety disorder", "MONDO:0006686": "brain stem infarction", "MONDO:0001208": "acute respiratory failure", "MONDO:0001394": "chronic erythremia", "MONDO:0001992": "rete testis adenocarcinoma", "MONDO:0002674": "stricture or kinking of ureter", "MONDO:0000474": "pericardium disease", "MONDO:0004090": "vulvar basaloid squamous cell carcinoma", "MONDO:0024476": "epithelial neoplasm of rectum", "MONDO:0000518": "sacrum chordoma", "MONDO:0003692": "adult malignant mesenchymoma", "MONDO:0001813": "squamous blepharitis", "MONDO:0006916": "postcholecystectomy syndrome", "MONDO:0024655": "rheumatic pericarditis", "MONDO:0021441": "benign neoplasm of exocrine pancreas", "MONDO:0002822": "trabecular adenocarcinoma", "MONDO:0002066": "breast adenomyoepithelioma", "MONDO:0003902": "brain stem hemangioblastoma", "MONDO:0001923": "vitreoretinal dystrophy", "MONDO:0005794": "Herpesviridae infectious disease", "MONDO:0021360": "tumor of parathyroid gland", "MONDO:0024797": "adult brain stem neoplasm", "MONDO:0010513": "intellectual disability, X-linked, syndromic, Borck type", "MONDO:0040674": "orgasm disorder", "MONDO:0005617": "undifferentiated carcinoma", "MONDO:0001987": "senile degeneration of brain", "MONDO:0025449": "paratuberculosis", "MONDO:0010837": "primary hyperparathyroidism (disease)", "MONDO:0006754": "esophageal diverticulosis", "MONDO:0004920": "hydrocele", "MONDO:0005939": "Reoviridae infectious disease", "MONDO:0006732": "drug-induced dyskinesia", "MONDO:0001445": "neurogenic bladder (disease)", "MONDO:0004670": "lupus erythematosus", "MONDO:0017608": "dystrophic epidermolysis bullosa", "MONDO:0024415": "hemorrhagic duodenitis", "MONDO:0005861": "multidrug-resistant tuberculosis", "MONDO:0003175": "salivary gland adenoid cystic carcinoma", "MONDO:0004890": "partial central choroid dystrophy", "MONDO:0002597": "notochordal tumor", "MONDO:0002909": "hyperglycemia", "MONDO:0004638": "lymphosarcoma", "MONDO:0002510": "germ cell and embryonal cancer", "MONDO:0001558": "Potter syndrome", "MONDO:0016023": "ocular coloboma", "MONDO:0002193": "Bartholin gland benign neoplasm", "MONDO:0003761": "leptomeningeal melanoma", "MONDO:0002140": "vagina sarcoma", "MONDO:0006109": "malignant biphasic mesothelioma", "MONDO:0000889": "haemophilus meningitis", "MONDO:0004291": "subglottis squamous cell carcinoma", "MONDO:0005889": "orthomyxoviridae infectious disease", "MONDO:0002063": "breast papillomatosis", "MONDO:0001597": "submandibular gland disease", "MONDO:0002642": "trochlear nerve neoplasm", "MONDO:0002946": "gynatresia", "MONDO:0001853": "contact blepharoconjunctivitis", "MONDO:0024357": "drug induced central sleep apnea", "MONDO:0005750": "ephemeral fever", "MONDO:0003751": "childhood germ cell tumor", "MONDO:0005206": "renal carcinoma", "MONDO:0006404": "salivary gland large cell carcinoma", "MONDO:0021326": "malignant neoplasm of cervical esophagus", "MONDO:0003402": "testicular yolk sac tumor", "MONDO:0004374": "adult extraskeletal osteosarcoma", "MONDO:0011645": "aneurysmal bone cysts", "MONDO:0045033": "opportunistic systemic mycosis", "MONDO:0005178": "osteoarthritis", "MONDO:0024311": "cancer affecting bone of limb skeleton", "MONDO:0000706": "chemical colitis", "MONDO:0003277": "malignant ear neoplasm", "MONDO:0001957": "critical illness polyneuropathy", "MONDO:0001490": "corneal granular dystrophy", "MONDO:0006999": "tooth disease", "MONDO:0024477": "liver and intrahepatic bile duct neoplasm", "MONDO:0004723": "liver leiomyoma", "MONDO:0037745": "fibromyxoid tumor", "MONDO:0006736": "dysplasia of cervix", "MONDO:0002191": "syringoma", "MONDO:0021679": "gram-positive bacterial infections", "MONDO:0023022": "dwarfism thin bones multiple fractures", "MONDO:0001329": "accommodative spasm", "MONDO:0003275": "middle ear cancer", "MONDO:0021812": "adnexal spiradenoma/cylindroma of a sweat gland", "MONDO:0006231": "gastrointestinal hamartoma", "MONDO:0044969": "disease of membrane bound organelle", "MONDO:0004669": "salivary gland cancer", "MONDO:0003809": "malignant mediastinum hemangiopericytoma", "MONDO:0003002": "dysgerminoma (disease)", "MONDO:0004028": "small intestinal fibrosarcoma", "MONDO:0003870": "childhood brainstem astrocytoma", "MONDO:0003895": "periosteal osteogenic sarcoma", "MONDO:0006246": "high grade surface osteosarcoma", "MONDO:0021315": "malignant tumor of nasopharynx", "MONDO:0005396": "thoracic aortic aneurysm", "MONDO:0004426": "frontal convexity meningioma", "MONDO:0000630": "immune system organ benign neoplasm", "MONDO:0021839": "spirochaetales infections", "MONDO:0004101": "multicentric papillary thyroid carcinoma", "MONDO:0001180": "bullous keratopathy", "MONDO:0004849": "pulmonary emphysema", "MONDO:0005128": "sensory system disease", "MONDO:0002199": "benign mixed tumor of the vulva", "MONDO:0044926": "oropharyngeal carcinoma", "MONDO:0001787": "hepatic infarction", "MONDO:0004162": "uterine corpus cellular leiomyoma", "MONDO:0002839": "leather-bottle stomach", "MONDO:0024334": "peripheral nerve lesion", "MONDO:0001339": "portal vein thrombosis", "MONDO:0000644": "cervical benign neoplasm", "MONDO:0001200": "secondary hypertension", "MONDO:0005281": "gallbladder disease", "MONDO:0021509": "benign neoplasm of myocardium", "MONDO:0002568": "tracheal stenosis", "MONDO:0001876": "renal artery atheroma", "MONDO:0006402": "salivary gland basal cell adenocarcinoma", "MONDO:0005163": "simian immunodeficiency virus infection", "MONDO:0003538": "precursor lymphoblastic lymphoma/leukemia", "MONDO:0004230": "adenomatoid tumor", "MONDO:0023650": "littoral cell angioma of the spleen", "MONDO:0002098": "facial nerve disease", "MONDO:0021474": "benign neoplasm of ear", "MONDO:0001087": "schizotypal personality disorder", "MONDO:0044916": "extrarenal rhabdoid tumor", "MONDO:0006001": "urinary schistosomiasis", "MONDO:0004973": "adenosquamous lung carcinoma", "MONDO:0002745": "fallopian tube mucinous tumor", "MONDO:0000158": "developmental dysplasia of the hip", "MONDO:0004617": "recurrent hypersomnia", "MONDO:0043424": "digestive system infectious disease", "MONDO:0001514": "prolapse of urethra", "MONDO:0002515": "hepatobiliary disease", "MONDO:0001797": "chancroid", "MONDO:0001842": "uterine corpus dissecting leiomyoma", "MONDO:0024583": "hernia", "MONDO:0021562": "omphalitis", "MONDO:0001684": "exocrine pancreatic insufficiency", "MONDO:0006095": "atypical carcinoid tumor", "MONDO:0021187": "hyperlipidemia (disease)", "MONDO:0002796": "melanotic medulloblastoma", "MONDO:0005500": "congenital disorder of glycosylation type I", "MONDO:0006592": "parapsoriasis", "MONDO:0022714": "chester porphyria", "MONDO:0024240": "eccrine carcinoma", "MONDO:0005165": "benign neoplasm", "MONDO:0020328": "classic Hodgkin lymphoma, mixed cellularity type", "MONDO:0006428": "splenic diffuse large B-cell lymphoma", "MONDO:0003234": "optic nerve astrocytoma", "MONDO:0006328": "odontogenic cyst", "MONDO:0003948": "cerebral hemangioma", "MONDO:0024281": "juvenile chronic polyarthritis", "MONDO:0043209": "albinism", "MONDO:0002269": "gastroenteritis", "MONDO:0001982": "Niemann-Pick disease", "MONDO:0023020": "dwarfism deafness retinitis pigmentosa", "MONDO:0003542": "dental pulp calcification", "MONDO:0022321": "2-methylacetoacetyl CoA thiolase deficiency", "MONDO:0000270": "lower respiratory tract disease", "MONDO:0004900": "peripheral vertigo", "MONDO:0001594": "Achilles bursitis", "MONDO:0011140": "benign familial neonatal-infantile seizures", "MONDO:0001714": "bejel", "MONDO:0021487": "benign neoplasm of choroid", "MONDO:0100056": "exercise-induced anaphylaxis", "MONDO:0024945": "hepatitis, non-human animal", "MONDO:0004369": "renal infectious disease", "MONDO:0021325": "malignant neoplasm of thoracic esophagus", "MONDO:0003332": "malignant struma ovarii", "MONDO:0006165": "colorectal squamous cell carcinoma", "MONDO:0000303": "conidiobolomycosis", "MONDO:0001941": "blindness (disorder)", "MONDO:0002381": "sweat gland neoplasm", "MONDO:0021941": "infection by Trypanosoma rhodesiense", "MONDO:0012189": "Amish infantile epilepsy syndrome", "MONDO:0004445": "bladder papillary clear cell adenocarcinoma", "MONDO:0003632": "endocervicitis", "MONDO:0004428": "alveoli adenoma", "MONDO:0003899": "adult myxoid chondrosarcoma", "MONDO:0002905": "mutism (disease)", "MONDO:0005886": "oral candidiasis", "MONDO:0004941": "eosinophilia-myalgia syndrome", "MONDO:0021339": "carcinoma of hard palate", "MONDO:0024299": "vitamin D-dependent rickets", "MONDO:0002999": "central nervous system germinoma", "MONDO:0013019": "spondyloepimetaphyseal dysplasia, Pakistani type", "MONDO:0006705": "Bacteroidaceae infectious disease", "MONDO:0022432": "alves Castelo dos Santos syndrome", "MONDO:0004570": "intestinal volvulus", "MONDO:0006823": "Klinefelter syndrome", "MONDO:0002003": "papilledema", "MONDO:0003245": "aflatoxin-related hepatocellular carcinoma", "MONDO:0004131": "anal verrucous carcinoma", "MONDO:0044014": "postpartum thyroiditis", "MONDO:0005907": "persian gulf syndrome", "MONDO:0021119": "non-functioning endocrine neoplasm", "MONDO:0021518": "benign neoplasm of hard palate", "MONDO:0025149": "encephalopathy, bovine spongiform", "MONDO:0000996": "prostate lymphoma", "MONDO:0024501": "appendix neuroendocrine neoplasm", "MONDO:0021282": "malignant teratoma of testis", "MONDO:0002740": "uterine ligament mucinous adenocarcinoma", "MONDO:0021317": "cancer of cerebellum", "MONDO:0002075": "spontaneous tension pneumothorax", "MONDO:0004583": "transient retinal arterial occlusion", "MONDO:0004965": "acinar cell carcinoma", "MONDO:0005338": "open-angle glaucoma", "MONDO:0002255": "hypertrophic elongation of cervix", "MONDO:0001170": "hemiplegia", "MONDO:0001319": "bladder lateral wall cancer", "MONDO:0003421": "mixed cell adenoma", "MONDO:0004219": "polyvesicular vitelline pattern testicular yolk sac tumor", "MONDO:0003500": "squamous cell bile duct carcinoma", "MONDO:0003397": "gingival hypertrophy", "MONDO:0003906": "ovarian yolk sac tumor, hepatoid pattern", "MONDO:0005517": "pharynx cancer", "MONDO:0044986": "lymphoid system disease", "MONDO:0006093": "ascending colon neuroendocrine tumor G1", "MONDO:0002424": "rectosigmoid carcinoma", "MONDO:0003987": "lung lymphoma", "MONDO:0000129": "glutaric aciduria (disease)", "MONDO:0022755": "chromosome 18 mosaic monosomy", "MONDO:0022786": "cleft palate colobomata radial synostosis deafness", "MONDO:0005211": "ovarian serous adenocarcinoma", "MONDO:0005537": "perianal Crohn disease", "MONDO:0021229": "ciliary body neoplasm", "MONDO:0004836": "intravascular fasciitis", "MONDO:0006877": "oophoritis", "MONDO:0002864": "anus rhabdomyosarcoma", "MONDO:0000159": "bone marrow failure syndrome", "MONDO:0004928": "lymph node disease", "MONDO:0006621": "vulvar inverted follicular keratosis", "MONDO:0021358": "neoplasm of hypopharynx", "MONDO:0006444": "teratoma with malignant transformation", "MONDO:0024625": "disorder of lacrimal gland", "MONDO:0000674": "mirror agnosia", "MONDO:0004506": "microscopic breast papilloma", "MONDO:0043085": "chromosome 1, uniparental disomy 1q12 q21", "MONDO:0002562": "demyelinating disease", "MONDO:0002044": "spastic ectropion", "MONDO:0003505": "femoral cancer", "MONDO:0006055": "sex cord-stromal tumor", "MONDO:0024919": "dog disease", "MONDO:0000766": "corneal endothelial dystrophy", "MONDO:0001833": "lacrimal duct obstruction", "MONDO:0022752": "chromosome 16p13.3 deletion syndrome", "MONDO:0006018": "Wissler syndrome", "MONDO:0005827": "lipoatrophic diabetes", "MONDO:0000796": "cow milk allergy (disease)", "MONDO:0006769": "gastroparesis (disease)", "MONDO:0006481": "ureter carcinoma", "MONDO:0023528": "KSHV inflammatory cytokine syndrome", "MONDO:0000222": "seminal vesicle acute gonorrhea", "MONDO:0002879": "uterine body mixed cancer", "MONDO:0002635": "periodontal disease", "MONDO:0004299": "infiltrating bladder lymphoepithelioma-like carcinoma", "MONDO:0016886": "partial deletion of the short arm of chromosome 4", "MONDO:0001420": "trigeminal nerve neoplasm", "MONDO:0001465": "superficial keratitis", "MONDO:0006814": "iritis (disease)", "MONDO:0003037": "hypotrichosis", "MONDO:0001815": "extrapyramidal and movement disease", "MONDO:0002814": "adrenal carcinoma", "MONDO:0045070": "digestive system melanoma", "MONDO:0006561": "eyelid hypopigmentation", "MONDO:0021370": "neoplasm of minor salivary gland", "MONDO:0001579": "corneal staphyloma", "MONDO:0000138": "metaphyseal chondrodysplasia (disease)", "MONDO:0011859": "distal myopathy with early respiratory muscle involvement", "MONDO:0008664": "autosomal dominant neovascular inflammatory vitreoretinopathy", "MONDO:0008117": "oculopharyngodistal myopathy", "MONDO:0003991": "villoglandular endometrial endometrioid adenocarcinoma", "MONDO:0005174": "acute hypotension", "MONDO:0004034": "eye lymphoma", "MONDO:0001207": "neonatal respiratory failure", "MONDO:0006435": "submandibular gland adenocarcinoma", "MONDO:0001750": "non-renal secondary hyperparathyroidism", "MONDO:0006807": "intestinal perforation", "MONDO:0025956": "ovarian remnant syndrome", "MONDO:0003688": "well differentiated papillary mesothelioma", "MONDO:0013647": "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome", "MONDO:0001297": "cardiac tamponade", "MONDO:0000727": "scapuloperoneal myopathy", "MONDO:0021923": "Arroyo Garcia Cimadevilla syndrome", "MONDO:0002195": "vulvar squamous neoplasm", "MONDO:0002563": "jejunal somatostatinoma", "MONDO:0021258": "choroid neoplasm", "MONDO:0006671": "Bacteroides infectious disease", "MONDO:0021348": "neoplasm of testis", "MONDO:0004139": "normocytic anemia", "MONDO:0021207": "Crohn jejunitis", "MONDO:0006986": "substernal goiter", "MONDO:0009065": "cystinosis, nephropathic", "MONDO:0021637": "low grade glioma", "MONDO:0003364": "gallbladder leiomyosarcoma", "MONDO:0100010": "tendinopathy", "MONDO:0001756": "frontal sinus cancer", "MONDO:0002746": "fallopian tube adenocarcinoma", "MONDO:0006478": "undifferentiated pancreatic carcinoma", "MONDO:0014960": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy", "MONDO:0030705": "Trichomonas prostatitis", "MONDO:0004837": "neurofibroma of the esophagus", "MONDO:0001766": "eversion of lacrimal punctum", "MONDO:0025270": "toxoplasmosis, non-human animal", "MONDO:0016393": "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome", "MONDO:0021110": "sweat gland adenoma", "MONDO:0006364": "peritoneal well differentiated papillary mesothelioma", "MONDO:0006512": "estrogen-receptor positive breast cancer", "MONDO:0002528": "synovium neoplasm", "MONDO:0005420": "hypothyroidism", "MONDO:0005609": "herpes zoster", "MONDO:0006948": "retinal artery occlusion", "MONDO:0001382": "hepatorenal syndrome", "MONDO:0024891": "non-infectious meningitis", "MONDO:0003624": "acinic cell breast carcinoma", "MONDO:0005451": "eating disorder", "MONDO:0003784": "nasal cavity carcinoma in situ", "MONDO:0005745": "Enoplea infectious disease", "MONDO:0100004": "mast cell activation syndrome", "MONDO:0000874": "T-cell childhood lymphoblastic lymphoma", "MONDO:0016520": "isolated Klippel-Feil syndrome", "MONDO:0001600": "mucocele of salivary gland", "MONDO:0006778": "halo nevus", "MONDO:0024882": "secondary neoplasm", "MONDO:0002840": "eosinophilic gastritis", "MONDO:0001830": "somatization disorder", "MONDO:0021471": "benign neoplasm of endometrium", "MONDO:0044919": "malignant renal pelvis neoplasm", "MONDO:0002526": "dermal unilateral segmental cavernous angioma", "MONDO:0004629": "subacute delirium", "MONDO:0024638": "pancreatic gastrinoma", "MONDO:0042913": "Schrander-stumpel-Theunissen-Hulsmans syndrome", "MONDO:0021113": "respiratory failure", "MONDO:0020658": "infiltrating ureter transitional cell carcinoma", "MONDO:0020536": "pigeon-breeder lung disease", "MONDO:0020698": "inborn error of biotin metabolism", "MONDO:0006925": "Fusobacteriaceae infectious disease", "MONDO:0021475": "benign neoplasm of nasal cavity", "MONDO:0002783": "Shwartzman phenomenon", "MONDO:0005050": "invasive ductal and lobular carcinoma", "MONDO:0043233": "exfoliative dermatitis", "MONDO:0000155": "triglyceride storage disease", "MONDO:0003090": "extrahepatic bile duct carcinoma", "MONDO:0005012": "cutaneous melanoma (disease)", "MONDO:0006122": "calcifying nested epithelial stromal tumor of the liver", "MONDO:0006700": "choroid cancer", "MONDO:0045045": "selective IgG immunodeficiency", "MONDO:0001027": "gonococcal seminal vesiculitis", "MONDO:0003884": "lipoma of the rectum", "MONDO:0000936": "syphilitic meningitis", "MONDO:0002977": "autoimmune disease of the nervous system", "MONDO:0003873": "ovarian surface papilloma", "MONDO:0021653": "cutaneous focal mucinosis", "MONDO:0004418": "microcystic variant infiltrating bladder urothelial carcinoma", "MONDO:0003192": "rete ovarii neoplasm", "MONDO:0003853": "Bartholin gland adenocarcinoma", "MONDO:0043154": "neonatal ovarian cyst", "MONDO:0025389": "brucellosis, bovine", "MONDO:0043789": "serum sickness", "MONDO:0025478": "venereal tumors, veterinary", "MONDO:0003093": "mucoepidermoid esophageal carcinoma", "MONDO:0002508": "gingivitis", "MONDO:0006646": "angioleiomyoma", "MONDO:0000937": "syphilitic encephalitis", "MONDO:0024890": "pineal parenchymal cell neoplasm", "MONDO:0005324": "seasonal allergic rhinitis", "MONDO:0003182": "anterior horn disease", "MONDO:0006500": "hemangioma", "MONDO:0003403": "testicular non-seminomatous germ cell cancer", "MONDO:0024392": "anaerobic balanitis", "MONDO:0100011": "tendinosis", "MONDO:0003177": "prostate adenoid cystic carcinoma", "MONDO:0006297": "maxillary sinus adenoid cystic carcinoma", "MONDO:0006853": "mesenchymal chondrosarcoma", "MONDO:0005188": "iatrogenic Kaposi's sarcoma", "MONDO:0021002": "syndactyly (disease)", "MONDO:0002804": "apocrine adenoma", "MONDO:0006414": "skin sarcoma", "MONDO:0006755": "euthyroid sick syndrome", "MONDO:0001016": "epididymis cancer", "MONDO:0005966": "spleen cancer", "MONDO:0005929": "postpartum depression", "MONDO:0056806": "non-small cell squamous lung carcinoma", "MONDO:0024935": "foot rot", "MONDO:0021251": "endometrium neoplasm", "MONDO:0004120": "Bartholin gland small cell carcinoma", "MONDO:0043472": "ectopic ACTH secretion syndrome", "MONDO:0002533": "papillary adenoma", "MONDO:0005046": "immune system disease", "MONDO:0100031": "autosomal dominant epilepsy with auditory features", "MONDO:0003168": "cerebellar pilocytic astrocytoma", "MONDO:0003448": "benign spiradenoma", "MONDO:0015598": "acrodermatitis continua suppurativa of Hallopeau", "MONDO:0022792": "coccygodynia", "MONDO:0006030": "chronic cystitis", "MONDO:0023530": "kallikrein hypertension", "MONDO:0006027": "breast synovial sarcoma", "MONDO:0016022": "early myoclonic encephalopathy", "MONDO:0021437": "lipoma of stomach", "MONDO:0005694": "cecal neoplasm", "MONDO:0006930": "pseudobulbar palsy", "MONDO:0021943": "tuberculoma", "MONDO:0001119": "premature menopause", "MONDO:0011905": "familial hypercholanemia", "MONDO:0003340": "malignant glomus tumor", "MONDO:0004269": "breast cystic hypersecretory carcinoma", "MONDO:0007563": "epistaxis, hereditary", "MONDO:0001611": "phlegmonous dacryocystitis", "MONDO:0003874": "ovarian serous surface papillary adenocarcinoma", "MONDO:0002541": "spinal cord oligodendroglioma", "MONDO:0023046": "ectodermal dysplasia blindness", "MONDO:0021929": "traumatic myositis ossificans", "MONDO:0001884": "abducens nerve neoplasm", "MONDO:0036915": "benign ovarian mucinous tumor", "MONDO:0005909": "pestivirus infectious disease", "MONDO:0005227": "abscess", "MONDO:0001408": "ischemic neuropathy", "MONDO:0005482": "molar-incisor hypomineralization", "MONDO:0020646": "ocular adnexal lymphoma", "MONDO:0005216": "hypopharyngeal carcinoma", "MONDO:0030707": "Trichomonas balanoposthitis", "MONDO:0000870": "childhood acute lymphoblastic leukemia", "MONDO:0004755": "monieziasis", "MONDO:0022529": "BK-virus nephropathy", "MONDO:0003766": "thalamic cancer", "MONDO:0024744": "childhood choroid plexus neoplasm", "MONDO:0005170": "myeloid neoplasm", "MONDO:0023603": "hereditary connective tissue disorder", "MONDO:0006336": "ovarian endometrioid adenocarcinoma with squamous differentiation", "MONDO:0004623": "prostate carcinoma in situ", "MONDO:0005410": "acute graft vs. host disease", "MONDO:0021512": "benign neoplasm of thymus", "MONDO:0023152": "fibrocartilaginous embolism", "MONDO:0003260": "adult cerebellar neoplasm", "MONDO:0005932": "pseudorabies", "MONDO:0000210": "thiopurine metabolic disease", "MONDO:0001018": "lymphoblastic leukemia", "MONDO:0000812": "vertebral column disease", "MONDO:0006566": "keratosis", "MONDO:0014852": "palmoplantar carcinoma, multiple self-healing", "MONDO:0044343": "cervical disc degenerative disorder", "MONDO:0003318": "mixed cell type kidney Wilms' tumor", "MONDO:0030602": "Klebsiella pneumonia", "MONDO:0003695": "ovarian clear cell adenofibroma", "MONDO:0000255": "subcutaneous mycosis", "MONDO:0000525": "cecum villous adenoma", "MONDO:0002141": "cutaneous undifferentiated pleomorphic sarcoma", "MONDO:0021250": "tonsil neoplasm", "MONDO:0001389": "congenital coronary artery anomaly", "MONDO:0005899": "parotid disease", "MONDO:0003970": "gastric fundus carcinoma", "MONDO:0005758": "eunuchism", "MONDO:0000924": "compensatory emphysema", "MONDO:0000590": "autoimmune disease of peripheral nervous system", "MONDO:0018348": "polyglucosan body myopathy type 1", "MONDO:0022857": "continuous muscle fiber activity hereditary", "MONDO:0005787": "hepatic tuberculosis", "MONDO:0006232": "giant cell tumor of soft tissue", "MONDO:0001101": "fat necrosis of breast", "MONDO:0001918": "epiphora due to excess lacrimation", "MONDO:0000678": "simultanagnosia", "MONDO:0000969": "pleural lipoma", "MONDO:0004406": "adult central nervous system mixed germ cell tumor", "MONDO:0004641": "skin carcinoma in situ", "MONDO:0001939": "skin epithelioid hemangioma", "MONDO:0010481": "angioedema", "MONDO:0001777": "acute gonococcal cystitis", "MONDO:0023102": "facio skeletal genital syndrome rippberger type", "MONDO:0006552": "folliculitis", "MONDO:0003472": "lice infestation", "MONDO:0004278": "infiltrating bladder urothelial carcinoma sarcomatoid variant", "MONDO:0004155": "adult central nervous system embryonal carcinoma", "MONDO:0007780": "hypertelorism, Teebi type", "MONDO:0021095": "parkinsonian disorder", "MONDO:0019946": "ligneous conjunctivitis", "MONDO:0003756": "ovarian mucinous neoplasm", "MONDO:0021656": "nongerminomatous germ cell tumor", "MONDO:0023006": "doxorubicin induced cardiomyopathy", "MONDO:0022020": "boudhina yedes khiari syndrome", "MONDO:0003910": "mixed cell uveal melanoma", "MONDO:0005375": "nasopharyngeal neoplasm", "MONDO:0001747": "tibial collateral ligament bursitis", "MONDO:0002881": "vaginal adenosarcoma", "MONDO:0006608": "seborrheic dermatitis (disease)", "MONDO:0006506": "congenital nonspherocytic hemolytic anemia", "MONDO:0004441": "childhood ovarian embryonal carcinoma", "MONDO:0006096": "atypical endometrial hyperplasia", "MONDO:0006523": "acrodermatitis", "MONDO:0003308": "pleural mesothelioma", "MONDO:0024473": "Astrakhan spotted fever", "MONDO:0002998": "skull base meningioma", "MONDO:0006837": "low tension glaucoma", "MONDO:0021412": "polyp of maxillary sinus", "MONDO:0023119": "familial myelofibrosis", "MONDO:0002162": "fallopian tube adenosarcoma", "MONDO:0024877": "clitoris neoplasm", "MONDO:0006005": "Venezuelan equine encephalitis", "MONDO:0005249": "pneumonia", "MONDO:0021445": "benign neoplasm of oral cavity", "MONDO:0022729": "chondrodysplasia punctata with steroid sulfatase deficiency", "MONDO:0021220": "eye neoplasm", "MONDO:0021350": "neoplasm of thorax", "MONDO:0001636": "mechanical entropion", "MONDO:0002184": "drug-induced hepatitis", "MONDO:0021634": "epithelial skin neoplasm", "MONDO:0003433": "water-clear cell adenoma", "MONDO:0041903": "gonococcal infection of joint", "MONDO:0021057": "classic or attenuated familial adenomatous polyposis", "MONDO:0007022": "xanthogranulomatous pyelonephritis", "MONDO:0006086": "angiomyxoma", "MONDO:0042603": "Sanderson-Fraser syndrome", "MONDO:0022598": "brachydactyly absence of distal phalanges", "MONDO:0005569": "cartilage disease", "MONDO:0044995": "parasympathetic nervous system disease", "MONDO:0023286": "graphite pneumoconiosis", "MONDO:0005252": "heart failure", "MONDO:0006665": "chronic atrophic gastritis", "MONDO:0015238": "arrhinia-choanal atresia-microphthalmia syndrome", "MONDO:0000469": "sinoatrial node disease", "MONDO:0043786": "serositis", "MONDO:0100015": "adult-onset segmental dystonia", "MONDO:0003865": "acral lentiginous melanoma (disease)", "MONDO:0002178": "placenta cancer", "MONDO:0002274": "monoclonal paraproteinemia disease", "MONDO:0003892": "acinar lung adenocarcinoma", "MONDO:0021199": "disease by anatomical system", "MONDO:0001836": "amenorrhea (disease)", "MONDO:0003966": "testicular monophasic choriocarcinoma", "MONDO:0024351": "familial pityriasis rubra pilaris", "MONDO:0000642": "brain meningioma", "MONDO:0003437": "occult small cell lung carcinoma", "MONDO:0005466": "hypersomnia (disease)", "MONDO:0000694": "seasonal affective disorder", "MONDO:0016257": "adenosarcoma of the corpus uteri", "MONDO:0021543": "hemangioma of gingiva", "MONDO:0001556": "urethral obstruction (disease)", "MONDO:0004384": "maxillary sinus inverted papilloma", "MONDO:0000839": "congenital abnormality", "MONDO:0005131": "cervical carcinoma", "MONDO:0002428": "protozoa infectious disease", "MONDO:0002643": "vestibular disease", "MONDO:0006992": "syphilitic aortitis", "MONDO:0024632": "defective phagocytic cell opsonization", "MONDO:0006280": "lung sclerosing hemangioma", "MONDO:0006709": "common bile duct neoplasm", "MONDO:0004568": "paralytic ileus (disease)", "MONDO:0001850": "female breast lower-outer quadrant cancer", "MONDO:0003626": "uterine ligament serous adenocarcinoma", "MONDO:0001255": "ventilation pneumonitis", "MONDO:0021072": "sympathetic paraganglioma", "MONDO:0001168": "spastic hemiplegia", "MONDO:0006773": "gonadal tissue neoplasm", "MONDO:0006726": "diaphragmatic eventration (disease)", "MONDO:0002679": "cerebral infarction", "MONDO:0024468": "anterior pituitary gland disease", "MONDO:0013451": "progressive myoclonic epilepsy type 5", "MONDO:0000568": "autoimmune disease of central nervous system", "MONDO:0001038": "perforated corneal ulcer", "MONDO:0022465": "anotia facial palsy cardiac defect", "MONDO:0016900": "partial deletion of the long arm of chromosome 1", "MONDO:0000014": "colorblindness, partial", "MONDO:0007024": "Yersinia pseudotuberculosis infectious disease", "MONDO:0005497": "bone development disease", "MONDO:0021742": "puerperal infection", "MONDO:0001438": "postinflammatory pulmonary fibrosis", "MONDO:0044982": "drug pseudoallergy", "MONDO:0007117": "angioedema, hereditary, type 1/2", "MONDO:0001000": "mixed mineral dust pneumoconiosis", "MONDO:0003563": "diffuse pulmonary fibrosis", "MONDO:0021206": "chronic non-suppurative otitis media", "MONDO:0002792": "cerebellar vermis medulloblastoma", "MONDO:0021108": "meningitis (disease)", "MONDO:0003523": "gastrin-producing neuroendocrine tumor", "MONDO:0005669": "black piedra", "MONDO:0000446": "midface dysplasia", "MONDO:0006714": "coronary aneurysm", "MONDO:0022647": "cardiomelic syndrome stratton Koehler type", "MONDO:0004254": "focal intraductal papillomatosis", "MONDO:0005166": "osteoma (disease)", "MONDO:0006386": "primary peritoneal serous adenocarcinoma", "MONDO:0020767": "cauda equina syndrome with neurogenic bladder", "MONDO:0001440": "neurotrophic keratoconjunctivitis", "MONDO:0022795": "deficiency of coenzyme q cytochrome c reductase", "MONDO:0002282": "West Nile fever", "MONDO:0006227": "gastric neuroendocrine tumor G1", "MONDO:0020776": "chlamydiaceae infections", "MONDO:0017333": "hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism", "MONDO:0001240": "neonatal anemia", "MONDO:0007027": "non-alcoholic steatohepatitis", "MONDO:0000128": "giant axonal neuropathy", "MONDO:0005393": "gout", "MONDO:0000883": "myeloid neoplasms associated with PDGFRB rearrangement", "MONDO:0005721": "coxsackievirus infectious disease", "MONDO:0001324": "hyperandrogenism", "MONDO:0003725": "breast adenosis", "MONDO:0001680": "vaginal mullerian papilloma", "MONDO:0001650": "acute cystitis (disease)", "MONDO:0021467": "benign neoplasm of renal pelvis", "MONDO:0004396": "cervical spinal canal and spinal cord meningioma", "MONDO:0004272": "urinary bladder tuberculosis", "MONDO:0001165": "tongue disease", "MONDO:0003643": "giant hemangioma", "MONDO:0002812": "infectious otitis interna", "MONDO:0004983": "azoospermia", "MONDO:0018568": "COG2-CDG", "MONDO:0000257": "acute diarrhea", "MONDO:0005289": "paranasal sinus neoplasm (disease)", "MONDO:0024296": "vascular neoplasm", "MONDO:0020700": "microcephaly, short stature, and impaired glucose metabolism", "MONDO:0004978": "aortic stenosis", "MONDO:0006800": "ideomotor apraxia", "MONDO:0023176": "formaldehyde poisoning", "MONDO:0003420": "bile duct cystadenoma", "MONDO:0021086": "gingival neoplasm", "MONDO:0000833": "bone remodeling disease", "MONDO:0003222": "central nervous system melanocytic neoplasm", "MONDO:0002298": "cutaneous glomangioma", "MONDO:0002756": "solitary plasmacytoma of chest wall", "MONDO:0003745": "choroid spindle cell melanoma", "MONDO:0043156": "nephrotic syndrome ocular anomalies", "MONDO:0003384": "uterine ligament clear cell adenocarcinoma", "MONDO:0005963": "sparganosis", "MONDO:0003821": "ovarian biphasic or triphasic teratoma", "MONDO:0021180": "acquired xanthinuria", "MONDO:0022765": "chronic demyelinizing neuropathy with IgM monoclonal", "MONDO:0004273": "breast apocrine adenoma", "MONDO:0003254": "cardiac granular cell neoplasm", "MONDO:0003635": "sebaceous breast carcinoma", "MONDO:0060768": "gingival fibroepithelial polyp", "MONDO:0005649": "appendicitis", "MONDO:0042498": "Ruzicka-Goerz-Anton syndrome", "MONDO:0006295": "malignant urinary system neoplasm", "MONDO:0004458": "bladder mixed adenocarcinoma", "MONDO:0002165": "rectal neoplasm", "MONDO:0005454": "lung neuroendocrine neoplasm", "MONDO:0006510": "renal tubular transport disease", "MONDO:0011380": "leukoencephalopathy with vanishing white matter", "MONDO:0001419": "trachea squamous cell carcinoma", "MONDO:0025510": "pythiosis", "MONDO:0030701": "autoimmune cardiomyopathy", "MONDO:0008171": "nephrolithiasis", "MONDO:0001378": "urachus cancer", "MONDO:0024485": "papillary urothelial hyperplasia", "MONDO:0021144": "ovarian clear cell tumor", "MONDO:0043114": "Landy-Donnai syndrome", "MONDO:0100057": "food-dependent exercise-induced anaphylaxis", "MONDO:0006526": "allergic urticaria", "MONDO:0021074": "precancerous condition", "MONDO:0020687": "supratentorial ependymal tumor", "MONDO:0100080": "cardioectodermal syndrome", "MONDO:0002954": "superficial multifocal basal cell carcinoma", "MONDO:0004518": "anterior urethra cancer", "MONDO:0000492": "chronic venous insufficiency", "MONDO:0002046": "alcohol abuse", "MONDO:0003836": "malignant thyroid stimulating hormone producing neoplasm of pituitary gland", "MONDO:0003118": "testicular Brenner tumor", "MONDO:0024881": "secondary malignant neoplasm", "MONDO:0020688": "spinal cord ischemia", "MONDO:0045004": "skeletal ligament disease", "MONDO:0000428": "Y-linked disease", "MONDO:0043452": "chromosome 8, trisomy", "MONDO:0043185": "pointer syndrome", "MONDO:0044992": "mouth mucosa disease", "MONDO:0006879": "optic papillitis", "MONDO:0001663": "hole retinal cyst", "MONDO:0006719": "cystic lymphangioma", "MONDO:0024417": "perceptual disorders", "MONDO:0004245": "ependymal tumor of brain", "MONDO:0018347": "severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome", "MONDO:0002744": "fallopian tube mucinous adenocarcinoma", "MONDO:0000770": "shellfish allergy", "MONDO:0005928": "post-thrombotic syndrome", "MONDO:0002486": "lobular neoplasia", "MONDO:0000749": "breast abscess", "MONDO:0023272": "goniodysgenesis mental retardation short stature", "MONDO:0004725": "rectum carcinoma in situ", "MONDO:0002173": "neuroma", "MONDO:0001182": "idiopathic corneal edema", "MONDO:0006357": "parotid gland carcinoma ex pleomorphic adenoma", "MONDO:0045019": "lactation disease", "MONDO:0000875": "adult acute monocytic leukemia", "MONDO:0000375": "bronchus carcinoma in situ", "MONDO:0006022": "acidosis disorder", "MONDO:0100051": "idiopathic mast cell activation syndrome", "MONDO:0006712": "corneal edema", "MONDO:0043579": "enteritis", "MONDO:0001691": "laryngeal cartilage cancer", "MONDO:0000328": "hyperphosphatemia (disease)", "MONDO:0005177": "serous cystadenoma", "MONDO:0001940": "pleuropneumonia", "MONDO:0022011": "bobble-head doll syndrome", "MONDO:0004927": "dacryocystocele", "MONDO:0020707": "central hearing loss", "MONDO:0022849": "congenital stenosis of cervical medullary canal", "MONDO:0000631": "bone benign neoplasm", "MONDO:0043073": "Zadik-Barak-Levin syndrome", "MONDO:0004371": "spinal multifocal clear cell meningioma", "MONDO:0023250": "global disaccharide intolerance", "MONDO:0004529": "non-ossifying fibromyxoid tumor", "MONDO:0002775": "anovulation", "MONDO:0021323": "malignant neoplasm of chest wall", "MONDO:0000779": "apple allergy", "MONDO:0011292": "dermatitis, atopic", "MONDO:0022941": "deafness hypospadias metacarpal and metatarsal syndrome", "MONDO:0001439": "episcleritis periodica fugax", "MONDO:0006353": "paranasal sinus Schneiderian papilloma", "MONDO:0002875": "parasitic ectoparasitic infectious disease", "MONDO:0041086": "mixed anxiety and depressive disorder", "MONDO:0005288": "intestinal polyp (disease)", "MONDO:0043985": "central nervous system lupus", "MONDO:0010595": "Sertoli cell-only syndrome", "MONDO:0001238": "polycythemia neonatorum", "MONDO:0021271": "villous adenoma of colon", "MONDO:0000066": "mitochondrial complex deficiency", "MONDO:0010368": "immunodeficiency without anhidrotic ectodermal dysplasia", "MONDO:0003044": "extraosseous chondrosarcoma", "MONDO:0001413": "ulceroglandular tularemia", "MONDO:0002250": "basilar artery insufficiency", "MONDO:0005978": "theileriasis", "MONDO:0000308": "primary systemic mycosis", "MONDO:0019486": "myoclonic epilepsy of infancy", "MONDO:0001793": "excessive tearing", "MONDO:0025487": "murine acquired immunodeficiency syndrome", "MONDO:0023607": "Laurence-Prosser-Rocker syndrome", "MONDO:0004442": "testis polyembryoma", "MONDO:0001064": "acute eustachian salpingitis", "MONDO:0004706": "discoid lupus erythematosus of eyelid", "MONDO:0006395": "rectal tubulovillous adenoma", "MONDO:0000836": "disease of bone structure", "MONDO:0004481": "pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma", "MONDO:0006019": "yaws", "MONDO:0000489": "diabetic encephalopathy", "MONDO:0023238": "giant mammary hamartoma", "MONDO:0005263": "unipolar depression", "MONDO:0002620": "localized osteosarcoma", "MONDO:0001310": "Bowman's membrane folds or rupture", "MONDO:0004004": "motor nerve neuritis", "MONDO:0004328": "maxillary sinus adenocarcinoma", "MONDO:0000473": "arterial disorder", "MONDO:0043370": "secondary adrenal insufficiency", "MONDO:0006201": "ethmoid sinus adenoid cystic carcinoma", "MONDO:0020651": "mixed germ cell tumor of vulva", "MONDO:0024645": "retroperitoneal neoplasm", "MONDO:0030906": "Trichomonas tenax infectious disease", "MONDO:0005824": "Legionnaires' disease", "MONDO:0044964": "oral cavity mucoepidermoid carcinoma", "MONDO:0005071": "nervous system disorder", "MONDO:0018335": "deep dermatophytosis", "MONDO:0004846": "placental abruption (disease)", "MONDO:0004624": "uvula cancer", "MONDO:0001281": "alternating exotropia", "MONDO:0003617": "chronic salpingitis", "MONDO:0025385": "bluetongue", "MONDO:0001469": "cascade stomach", "MONDO:0020586": "factor V deficiency", "MONDO:0003367": "gastric leiomyosarcoma (disease)", "MONDO:0023106": "Fairbank disease", "MONDO:0021631": "brain astrocytoma", "MONDO:0044991": "upper digestive tract disease", "MONDO:0002590": "combined thymoma", "MONDO:0000974": "axillary lipoma", "MONDO:0004042": "urethra inverted papilloma", "MONDO:0000967": "conventional lipoma", "MONDO:0022771": "circumscribed disseminated keratosis Jadassohn lew type", "MONDO:0043543": "iatrogenic disease", "MONDO:0002272": "polyclonal hypergammaglobulinemia", "MONDO:0001572": "leiomyoma", "MONDO:0004792": "cancer of isthmus of fallopian tube", "MONDO:0002921": "congenital structural myopathy", "MONDO:0004596": "cor pulmonale", "MONDO:0002651": "anal Paget disease", "MONDO:0002198": "vulvar glandular neoplasm", "MONDO:0008032": "autosomal dominant limb-girdle muscular dystrophy type 1A", "MONDO:0021521": "benign neoplasm of mediastinum", "MONDO:0001984": "candidal paronychia", "MONDO:0005849": "milk allergic reaction", "MONDO:0000148": "pulmonary fibrosis and/or bone marrow failure, Telomere-related", "MONDO:0001697": "reading disorder", "MONDO:0100059": "hypereosinophilia of undetermined significance", "MONDO:0005126": "tuberculoid leprosy", "MONDO:0004485": "interstitial myocarditis", "MONDO:0004095": "B-cell neoplasm", "MONDO:0004296": "cervical lymphoepithelioma-like carcinoma", "MONDO:0006919": "potassium deficiency", "MONDO:0013850": "periodic fever, menstrual cycle-dependent", "MONDO:0000009": "inherited bleeding disorder, platelet-type", "MONDO:0003501": "external ear squamous cell carcinoma", "MONDO:0023619": "lentigo maligna melanoma", "MONDO:0001893": "spinal cord melanoma", "MONDO:0000990": "acute subendocardial myocardial infarction", "MONDO:0003829": "chromophil adenoma of the kidney", "MONDO:0000668": "autotopagnosia", "MONDO:0009807": "osteosarcoma (disease)", "MONDO:0009004": "combined inflammatory and immunologic defect", "MONDO:0000673": "integrative agnosia", "MONDO:0000298": "dioctophymiasis", "MONDO:0018194": "sex cord-stromal tumor of testis", "MONDO:0006652": "anterolateral myocardial infarction", "MONDO:0040998": "Pasteurella multocida infectious disease", "MONDO:0004270": "breast ductal adenoma", "MONDO:0002224": "malignant ovarian cyst", "MONDO:0023161": "viral myocarditis", "MONDO:0002953": "skin infiltrative basal cell carcinoma", "MONDO:0005238": "round cell liposarcoma", "MONDO:0003840": "epicardium lipoma", "MONDO:0003036": "mucoepidermoid carcinoma", "MONDO:0002693": "lateral sinus thrombosis", "MONDO:0005446": "cutaneous leishmaniasis", "MONDO:0001996": "steroid-induced glaucoma - borderline", "MONDO:0005359": "drug-induced liver injury", "MONDO:0002497": "food allergy", "MONDO:0003773": "intracerebral cystic meningioma", "MONDO:0006525": "allergic contact dermatitis", "MONDO:0006275": "lung giant cell carcinoma", "MONDO:0001330": "presbyopia", "MONDO:0002363": "papilloma", "MONDO:0005229": "bacterial infectious disease with sepsis", "MONDO:0044092": "collagenous sprue", "MONDO:0004872": "hemorrhoid", "MONDO:0006068": "ACTH-producing pituitary gland adenoma", "MONDO:0003911": "ciliary body mixed cell melanoma", "MONDO:0001383": "degenerative myopia", "MONDO:0006213": "floor of mouth mucoepidermoid carcinoma", "MONDO:0022338": "ALK+ histiocytosis", "MONDO:0004702": "uterine cervix leukoplakia", "MONDO:0001345": "antidepressant type abuse", "MONDO:0024662": "colorectal tubulovillous adenoma", "MONDO:0005961": "sinusitis", "MONDO:0000627": "benign endocrine neoplasm", "MONDO:0024644": "myocardial ischemia", "MONDO:0004379": "female breast carcinoma", "MONDO:0001157": "dependent personality disorder", "MONDO:0000244": "endothrix infectious disease", "MONDO:0003158": "malignant myoepithelioma", "MONDO:0000250": "osmotic diarrheal disease", "MONDO:0021661": "coronary atherosclerosis", "MONDO:0005344": "hepatitis B infection", "MONDO:0006821": "kidney papillary necrosis", "MONDO:0006845": "male genital tuberculosis", "MONDO:0003479": "toxic pneumonitis", "MONDO:0021907": "aplasia cutis autosomal recessive", "MONDO:0004585": "polyhydramnios (disease)", "MONDO:0001088": "acute inferoposterior infarction", "MONDO:0002318": "trachea leiomyoma", "MONDO:0043355": "collagenous gastritis", "MONDO:0037253": "ovarian thecoma", "MONDO:0024912": "cat disease", "MONDO:0021429": "squamous cell carcinoma of floor of mouth", "MONDO:0040566": "inherited glutathione metabolism disease", "MONDO:0043777": "rhinophyma", "MONDO:0023042": "ectodermal dysplasia margarita type", "MONDO:0006103": "benign adrenal gland pheochromocytoma", "MONDO:0024235": "Brenner tumor", "MONDO:0005648": "aortic valve insufficiency", "MONDO:0001288": "endometriosis of rectovaginal septum and vagina", "MONDO:0006688": "byssinosis", "MONDO:0004805": "leukocyte disease", "MONDO:0005435": "anti-neutrophil antibody associated vasculitis", "MONDO:0003587": "pediatric liposarcoma", "MONDO:0004995": "cardiovascular disease", "MONDO:0044354": "Rosai-Dorfman disease", "MONDO:0023577": "Krieble Bixler syndrome", "MONDO:0023073": "eosinophilic cryptitis", "MONDO:0002149": "reproductive system cancer", "MONDO:0005465": "methamphetamine-induced psychosis", "MONDO:0000482": "focal hand dystonia", "MONDO:0000376": "respiratory system cancer", "MONDO:0002958": "signet ring basal cell carcinoma", "MONDO:0004538": "endocervical type cervical mucinous adenocarcinoma", "MONDO:0024252": "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome", "MONDO:0023240": "gigantism advanced bone age hoarse cry", "MONDO:0000787": "tomato allergy", "MONDO:0001302": "hypertensive heart disease", "MONDO:0003311": "endometrial stromal tumor", "MONDO:0002671": "signet ring cell breast carcinoma", "MONDO:0000584": "B cell linker protein deficiency", "MONDO:0006599": "physical urticaria", "MONDO:0001792": "epiphora due to insufficient drainage", "MONDO:0003528": "Volkmann contracture", "MONDO:0001749": "cortical senile cataract", "MONDO:0003393": "thymus gland disease", "MONDO:0001618": "balanoposthitis", "MONDO:0022909": "cutis laxa osteoporosis", "MONDO:0000530": "rectum adenoma", "MONDO:0000314": "primary bacterial infectious disease", "MONDO:0001927": "pulmonary valve insufficiency", "MONDO:0004345": "childhood malignant schwannoma", "MONDO:0005182": "serous cystadenofibroma", "MONDO:0004668": "fascioliasis", "MONDO:0001794": "Pthirus pubis infestation", "MONDO:0002423": "rectosigmoid junction neoplasm", "MONDO:0022205": "pustular psoriasis", "MONDO:0007021": "wheat allergic disease", "MONDO:0005333": "hyperthyroxinemia", "MONDO:0000169": "microphthalmia, isolated, with cataract", "MONDO:0004363": "adult spinal cord glioblastoma", "MONDO:0023138": "Feingold trainer syndrome", "MONDO:0005039": "reproductive system disease", "MONDO:0021752": "Achard-Thiers syndrome", "MONDO:0001478": "anisometropia (disease)", "MONDO:0043237": "glossodynia", "MONDO:0002290": "clitoris cancer", "MONDO:0007299": "Sotos syndrome 1", "MONDO:0004797": "mononeuritis of lower limb", "MONDO:0003039": "nominal aphasia", "MONDO:0021698": "alcohol-related disorders", "MONDO:0029001": "chemically-induced disorder", "MONDO:0002540": "childhood oligodendroglioma", "MONDO:0002166": "rectum lymphoma", "MONDO:0014897": "portal hypertension, noncirrhotic", "MONDO:0100036": "variable age onset epilepsy", "MONDO:0001499": "retroperitoneal lymphoma", "MONDO:0017848": "partial deletion of the short arm of chromosome 12", "MONDO:0002043": "ectropion (disease)", "MONDO:0000548": "ovarian clear cell cancer", "MONDO:0006475": "unclassified renal cell carcinoma", "MONDO:0003717": "renal pelvis papillary tumor", "MONDO:0001576": "telangiectasis", "MONDO:0003982": "bilateral breast carcinoma", "MONDO:0000745": "cardiac arrest", "MONDO:0001601": "Plasmodium ovale malaria", "MONDO:0025263": "strongyle infections, equine", "MONDO:0001067": "early yaws", "MONDO:0045052": "benign osteogenic neoplasm", "MONDO:0002517": "tenosynovitis of foot and ankle", "MONDO:0011057": "cerebrovascular disorder", "MONDO:0030700": "autoimmune glomerulonephritis", "MONDO:0006767": "gastric antral vascular ectasia", "MONDO:0005275": "lung disease", "MONDO:0004644": "subacute monocytic leukemia", "MONDO:0006233": "gonadal teratoma", "MONDO:0042911": "Schwartz-Cohen-addad-Lambert syndrome", "MONDO:0021222": "lacrimal gland neoplasm", "MONDO:0000182": "congenital myasthenic syndrome with tubular aggregates", "MONDO:0000374": "bile duct carcinoma in situ", "MONDO:0002030": "chronic cervicitis", "MONDO:0001871": "acute diffuse glomerulonephritis", "MONDO:0003796": "rectum Kaposi sarcoma", "MONDO:0000468": "third-degree atrioventricular block", "MONDO:0002658": "iris cancer", "MONDO:0001568": "mixed receptive-expressive language disorder", "MONDO:0000450": "secondary progressive multiple sclerosis", "MONDO:0044349": "acquired hemoglobinopathy", "MONDO:0022471": "childhood aortic valve stenosis", "MONDO:0015522": "situs ambiguus", "MONDO:0004127": "lung occult adenocarcinoma", "MONDO:0001915": "orbital cyst", "MONDO:0024478": "mesenchymal hamartoma", "MONDO:0000952": "cancer of long bone of lower limb", "MONDO:0004556": "carcinoma arising in nasal papillomatosis", "MONDO:0005739": "echinostomiasis", "MONDO:0004382": "laryngeal disease", "MONDO:0020627": "epileptic encephalopathy, infantile or early childhood", "MONDO:0006616": "toxicodendron dermatitis", "MONDO:0003786": "childhood testicular choriocarcinoma", "MONDO:0000955": "ileum cancer", "MONDO:0002972": "posterior mediastinum cancer", "MONDO:0000467": "second-degree atrioventricular block", "MONDO:0005842": "maxillary sinusitis", "MONDO:0001810": "hypoglossal nerve disease", "MONDO:0006779": "heart aneurysm", "MONDO:0100070": "neuroendocrine disease", "MONDO:0003404": "adult yolk sac tumor", "MONDO:0021908": "aplasia cutis congenita dominant", "MONDO:0022975": "diaphragmatic agenesis radial aplasia omphalocele", "MONDO:0009304": "Gorlin-Chaudhry-Moss syndrome", "MONDO:0001768": "stenosis of lacrimal passage", "MONDO:0000968": "kidney lipoma", "MONDO:0002900": "cerebral neuroblastoma", "MONDO:0045049": "hypermature cataract", "MONDO:0006660": "arthus reaction", "MONDO:0005982": "tinea infection", "MONDO:0005436": "postoperative ventricular dysfunction", "MONDO:0005470": "postprandial hypotension", "MONDO:0045056": "grade II meningioma", "MONDO:0004053": "bartholin gland squamous cell carcinoma", "MONDO:0030720": "trichomonal vulvovaginitis", "MONDO:0003586": "esophagus liposarcoma", "MONDO:0002749": "extracranial neuroblastoma", "MONDO:0005379": "neurotic disorder", "MONDO:0005937": "REM sleep behavior disorder", "MONDO:0004780": "strictly posterior acute myocardial infarction", "MONDO:0003022": "pediatric angiosarcoma", "MONDO:0004695": "liver lymphoma", "MONDO:0001784": "malignant renovascular hypertension", "MONDO:0002164": "focal chorioretinitis", "MONDO:0004843": "pathologic nystagmus", "MONDO:0002050": "depressive disorder", "MONDO:0024499": "vascular bone neoplasm", "MONDO:0000815": "fetal nicotine spectrum disorder", "MONDO:0002941": "anal margin carcinoma", "MONDO:0005365": "hearing loss disorder", "MONDO:0001133": "malignant essential hypertension", "MONDO:0001415": "atrophy of testis", "MONDO:0004158": "pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma", "MONDO:0001283": "endosalpingiosis", "MONDO:0005141": "Pseudomonas infection", "MONDO:0005247": "urinary tract infection (disease)", "MONDO:0002442": "long QT syndrome", "MONDO:0004831": "proliferative fasciitis", "MONDO:0005369": "carcinoid tumor (disease)", "MONDO:0022887": "craniofrontonasal syndrome Teebi type", "MONDO:0003356": "epithelioid leiomyosarcoma", "MONDO:0004460": "thyroid fetal adenoma", "MONDO:0000671": "finger agnosia (disease)", "MONDO:0003578": "extragonadal nonseminomatous germ cell tumor", "MONDO:0003058": "microcystic meningioma", "MONDO:0031013": "autoimmune optic neuritis", "MONDO:0021723": "vaginismus", "MONDO:0016808": "mitochondrial DNA depletion syndrome, hepatocerebral form", "MONDO:0006534": "cholinergic urticaria", "MONDO:0040679": "urothelial carcinoma", "MONDO:0013098": "noise induced hearing loss", "MONDO:0025271": "trypanosomiasis, bovine", "MONDO:0006900": "perinephritis", "MONDO:0004188": "iris spindle cell melanoma", "MONDO:0003463": "ovarian endometrioid adenofibroma", "MONDO:0005837": "mandibular cancer", "MONDO:0021281": "cavernous hemangioma of retina", "MONDO:0003574": "external ear cancer", "MONDO:0004275": "osteosarcoma arising in bone Paget disease", "MONDO:0005296": "sleep apnea syndrome", "MONDO:0005879": "ocular toxoplasmosis", "MONDO:0006723": "denture stomatitis", "MONDO:0020971": "gonococcal urethritis", "MONDO:0043775": "respiratory paralysis", "MONDO:0022912": "cutis verticis gyrata mental deficiency", "MONDO:0005771": "geographic tongue", "MONDO:0003965": "Capgras syndrome", "MONDO:0005326": "sunburn", "MONDO:0005659": "atrophic rhinitis", "MONDO:0020596": "mucin-producing carcinoma", "MONDO:0004615": "upper gum cancer", "MONDO:0002722": "olfactory nerve neoplasm", "MONDO:0003003": "cervical alveolar soft part sarcoma", "MONDO:0044903": "myelofibrosis", "MONDO:0022037": "large-cell immunoblastic lymphoma", "MONDO:0004030": "ureter transitional cell carcinoma", "MONDO:0001233": "orbital tenonitis", "MONDO:0004539": "aortic malignant tumor", "MONDO:0002016": "benign familial neonatal epilepsy", "MONDO:0001282": "fallopian tube endometriosis", "MONDO:0005589": "thiopurine immunosuppressant-induced pancreatitis", "MONDO:0004947": "B-cell acute lymphoblastic leukemia", "MONDO:0005700": "chickenpox", "MONDO:0024611": "orbit neoplasm", "MONDO:0021478": "benign neoplasm of nasopharynx", "MONDO:0043254": "papular urticaria", "MONDO:0004649": "anaerobic pneumonia", "MONDO:0006977": "spermatocele", "MONDO:0003652": "acute urate nephropathy", "MONDO:0006936": "pulmonary valve stenosis", "MONDO:0004173": "adenocarcinoma of skene gland origin", "MONDO:0002865": "anus sarcoma", "MONDO:0042967": "rheumatic disease of mitral valve", "MONDO:0004982": "pancreatitis", "MONDO:0003531": "papillary eccrine carcinoma", "MONDO:0003053": "choroid plexus meningioma", "MONDO:0003297": "gallbladder leiomyoma", "MONDO:0021539": "hamartoma of skin appendage", "MONDO:0023068": "engelhard yatziv syndrome", "MONDO:0001598": "benign lymphoepithelial lesion of salivary gland", "MONDO:0002883": "intestinal neuroendocrine neoplasm", "MONDO:0003157": "Gorham disease", "MONDO:0001036": "hypopyon", "MONDO:0003825": "kidney oncocytoma", "MONDO:0004866": "eustachian tube disease", "MONDO:0001693": "ego-dystonic sexual orientation", "MONDO:0022220": "Parinaud syndrome", "MONDO:0022556": "oculo-cerebral dysplasia", "MONDO:0000340": "bulbospinal polio", "MONDO:0004329": "pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia", "MONDO:0021231": "retina neoplasm", "MONDO:0003737": "malignant testicular Leydig cell tumor", "MONDO:0000654": "benign connective and soft tissue neoplasm", "MONDO:0023076": "eosinophilic pustular folliculitis", "MONDO:0001225": "opioid abuse", "MONDO:0004749": "myocardium cancer", "MONDO:0002888": "intraorbital meningioma", "MONDO:0002261": "keratopathy", "MONDO:0001540": "bagassosis", "MONDO:0021450": "benign neoplasm of heart", "MONDO:0006343": "ovarian transitional cell carcinoma", "MONDO:0004265": "acute endometritis", "MONDO:0006884": "panophthalmitis", "MONDO:0045032": "congenital secretory diarrhea", "MONDO:0044336": "colorectal signet ring cell carcinoma", "MONDO:0003163": "cauda equina intradural extramedullary astrocytoma", "MONDO:0021146": "headache disorder", "MONDO:0006678": "bladder calculus", "MONDO:0002017": "olivopontocerebellar atrophy", "MONDO:0100032": "familial temporal lobe epilepsy syndrome", "MONDO:0005765": "foot and mouth disease", "MONDO:0005025": "endocarditis (disease)", "MONDO:0004233": "childhood pleomorphic rhabdomyosarcoma", "MONDO:0004343": "pancreatic acinar cell cystadenocarcinoma", "MONDO:0000495": "oppositional defiant disorder (disease)", "MONDO:0004858": "occlusion of gallbladder", "MONDO:0016212": "cyclosporosis", "MONDO:0001604": "lagophthalmos", "MONDO:0013494": "PSMNSW", "MONDO:0023605": "Laugier-Hunziker syndrome", "MONDO:0024971": "parturient paresis", "MONDO:0003503": "fallopian tube squamous cell carcinoma", "MONDO:0005398": "upper aerodigestive tract neoplasm", "MONDO:0001989": "atrophic glossitis", "MONDO:0004533": "perineural angioma", "MONDO:0022865": "corneal dystrophy ichthyosis microcephaly mental retardation", "MONDO:0001172": "salpingo-oophoritis", "MONDO:0001993": "seminal vesicle adenocarcinoma", "MONDO:0005438": "metastatic malignant neoplasm in the lymph nodes", "MONDO:0021129": "microphthalmia", "MONDO:0009739": "infantile neuroaxonal dystrophy", "MONDO:0003095": "laryngeal mucoepidermoid carcinoma", "MONDO:0002860": "testis rhabdomyosarcoma", "MONDO:0024238": "cerebral degeneration", "MONDO:0000301": "ophthalmomyiasis", "MONDO:0002201": "vulvar trichoepithelioma", "MONDO:0001215": "allescheriosis", "MONDO:0003031": "endometrioid stromal and related neoplasms of the cervix", "MONDO:0023002": "double discordia", "MONDO:0002755": "solitary osseous plasmacytoma", "MONDO:0000243": "ectothrix infectious disease", "MONDO:0022978": "diaphragmatic hernia upper limb defects", "MONDO:0021546": "ependymal tumor of spinal cord", "MONDO:0043765": "presbycusis", "MONDO:0005264": "transient ischemic attack (disease)", "MONDO:0001261": "Mobitz type II atrioventricular block", "MONDO:0021114": "Bartholin gland neoplasm", "MONDO:0043112": "lachiewicz sibley syndrome", "MONDO:0005053": "ischemic disease", "MONDO:0003747": "telangiectatic glomangioma", "MONDO:0005490": "large artery stroke", "MONDO:0004557": "congenital fibrosarcoma", "MONDO:0001492": "kyphoscoliotic heart disease", "MONDO:0002834": "primary prostate urothelial carcinoma", "MONDO:0004089": "basaloid carcinoma of the penis", "MONDO:0003592": "gastric liposarcoma", "MONDO:0006923": "Bacillaceae infectious disease", "MONDO:0002652": "anus adenocarcinoma", "MONDO:0025003": "goat disease", "MONDO:0003026": "gallbladder angiosarcoma", "MONDO:0001905": "bicipital tenosynovitis", "MONDO:0002567": "tracheal disease", "MONDO:0003204": "villous adenocarcinoma", "MONDO:0004404": "refractory precursor T-lymphoblastic lymphoma/leukemia", "MONDO:0006375": "placental hemangioma", "MONDO:0001729": "active cochlear Meniere disease", "MONDO:0011457": "ataxia - telangiectasia-like disorder", "MONDO:0008315": "prostate cancer", "MONDO:0003351": "colon leiomyosarcoma", "MONDO:0003279": "testicular infarct", "MONDO:0000824": "congenital diarrhea", "MONDO:0002899": "differentiating neuroblastoma", "MONDO:0021537": "undifferentiated carcinoma of nasopharynx", "MONDO:0006850": "maxillary sinus neoplasm", "MONDO:0004393": "mixed astrocytoma-ependymoma", "MONDO:0021092": "fallopian tube neoplasm", "MONDO:0000292": "philophthalmiasis", "MONDO:0002564": "jejunal neoplasm", "MONDO:0021043": "mixed neoplasm", "MONDO:0001023": "prolymphocytic leukemia", "MONDO:0001584": "ocular motility disease", "MONDO:0000783": "orange allery", "MONDO:0006640": "adrenal gland hyperfunction", "MONDO:0003108": "cervicomedullary junction neoplasm", "MONDO:0001192": "esophageal melanoma", "MONDO:0020358": "coloboma of optic disc", "MONDO:0000372": "pharynx carcinoma in situ", "MONDO:0001926": "ureteral disease", "MONDO:0004222": "ovarian clear cell cystadenocarcinoma", "MONDO:0000425": "X-linked disease", "MONDO:0100053": "anaphylaxis", "MONDO:0004720": "variola minor infection", "MONDO:0013075": "herpes simplex encephalitis, susceptibility to, 2", "MONDO:0022691": "cerebello-olivary atrophy", "MONDO:0006692": "central pontine myelinolysis", "MONDO:0004314": "malignant cutaneous granular cell skin tumor", "MONDO:0003819": "childhood teratoma of the ovary", "MONDO:0001307": "corneal abscess", "MONDO:0004227": "epididymal adenomatoid tumor", "MONDO:0000383": "benign reproductive system neoplasm", "MONDO:0003190": "middle ear carcinoma", "MONDO:0004455": "classic congenital mesoblastic nephroma", "MONDO:0005972": "streptococcal pneumonia", "MONDO:0045018": "creatine biosynthetic process disease", "MONDO:0002414": "gastric hemangioma", "MONDO:0006734": "benign duodenal neoplasm", "MONDO:0042965": "Machado-Joseph disease type 5", "MONDO:0002312": "opportunistic mycosis", "MONDO:0001145": "total third-nerve palsy", "MONDO:0021473": "benign neoplasm of epididymis", "MONDO:0004339": "tuberculum sellae meningioma", "MONDO:0010760": "XH antigen", "MONDO:0003861": "vulvar eccrine adenocarcinoma", "MONDO:0006387": "primary pulmonary diffuse large B-cell lymphoma", "MONDO:0003014": "rhinitis", "MONDO:0024270": "parasitic intestinal disease", "MONDO:0006221": "gastric adenoma", "MONDO:0021762": "acrocoxomesomelic dysplasia", "MONDO:0021096": "papillary epithelial neoplasm", "MONDO:0006797": "hypertensive retinopathy", "MONDO:0004315": "cholangiolocellular carcinoma", "MONDO:0002713": "epidural spinal canal neoplasm", "MONDO:0001895": "acute retrobulbar neuritis", "MONDO:0043982": "cubital tunnel syndrome", "MONDO:0001919": "cystoid macular retinal degeneration", "MONDO:0005850": "milker's nodule", "MONDO:0023569": "Kozlowski Ouvrier syndrome", "MONDO:0022999": "distichiasis heart congenital anomalies", "MONDO:0003718": "occlusion precerebral artery", "MONDO:0044079": "cardio-renal syndrome", "MONDO:0022446": "amyloidosis nodular localized cutaneous", "MONDO:0019686": "type 2 collagen-related bone disorder", "MONDO:0006871": "non-gestational choriocarcinoma", "MONDO:0003762": "malignant leptomeningeal tumor", "MONDO:0004746": "myopathy of extraocular muscle", "MONDO:0002677": "conventional fibrosarcoma", "MONDO:0002807": "bronchial neoplasm (disease)", "MONDO:0003939": "muscle tissue disease", "MONDO:0000751": "cervical polyp (disease)", "MONDO:0003378": "liver leiomyosarcoma", "MONDO:0002967": "dermatophytosis of scalp or beard", "MONDO:0022662": "carpo tarsal osteolysis recessive", "MONDO:0003143": "angiokeratoma", "MONDO:0004709": "occipital lobe neoplasm", "MONDO:0000213": "autoimmune disease, multisystem, infantile-onset", "MONDO:0003933": "chest wall bone cancer", "MONDO:0002293": "cutaneous ganglioneuroma", "MONDO:0022985": "diffuse cavernous hemangioma of the rectum", "MONDO:0005027": "epilepsy", "MONDO:0004466": "neuronitis", "MONDO:0005749": "eosinophilic pneumonia", "MONDO:0021202": "allergic otitis media", "MONDO:0003921": "posterior foramen magnum meningioma", "MONDO:0004217": "childhood brain germinoma", "MONDO:0001949": "acute thyroiditis", "MONDO:0006565": "juvenile dermatitis herpetiformis", "MONDO:0021159": "gonococcal salpingitis", "MONDO:0004778": "epididymo-orchitis", "MONDO:0006546": "erythematosquamous dermatosis", "MONDO:0003880": "ceruminous carcinoma", "MONDO:0005293": "flatfoot", "MONDO:0004981": "atrial fibrillation (disease)", "MONDO:0003881": "vulvar apocrine adenocarcinoma", "MONDO:0002742": "cervical mucinous adenocarcinoma", "MONDO:0002365": "kidney hemangiopericytoma", "MONDO:0006937": "pulpitis", "MONDO:0020548": "ocular pemphigoid", "MONDO:0021476": "benign neoplasm of tongue", "MONDO:0005539": "small bowel Crohn disease", "MONDO:0000458": "proneural glioblastoma", "MONDO:0008431": "slipped femoral capital epiphyses", "MONDO:0002622": "multifocal osteogenic sarcoma", "MONDO:0000652": "integumentary system benign neoplasm", "MONDO:0002366": "autonomic nervous system neoplasm", "MONDO:0001925": "retinal dystrophy in systemic or cerebroretinal lipidoses", "MONDO:0002367": "kidney cancer", "MONDO:0004181": "breast adenomyoepithelial adenosis", "MONDO:0002835": "papillary transitional carcinoma", "MONDO:0002343": "splenic hemangioma", "MONDO:0005419": "metamphetamine dependence", "MONDO:0006034": "gastric adenosquamous carcinoma", "MONDO:0043291": "rokitansky-aschoff sinuses of the gallbladder", "MONDO:0004175": "mucin-rich endometrial endometrioid adenocarcinoma", "MONDO:0002934": "intravascular angioleiomyoma", "MONDO:0005772": "geotrichosis", "MONDO:0004012": "adult botryoid rhabdomyosarcoma", "MONDO:0000315": "commensal bacterial infectious disease", "MONDO:0002257": "ankylosis (disease)", "MONDO:0021918": "arena syndrome", "MONDO:0005614": "pancreatic adenosquamous carcinoma", "MONDO:0003812": "ovarian endometrial cancer", "MONDO:0001411": "synostosis", "MONDO:0021495": "benign neoplasm of sublingual gland", "MONDO:0004047": "sphenoidal sinus neoplasm", "MONDO:0001761": "favism", "MONDO:0006442": "tendon sheath fibroma", "MONDO:0022780": "cleft lip palate pituitary deficiency", "MONDO:0003739": "selective immunoglobulin deficiency disease", "MONDO:0002872": "trophoblastic neoplasm", "MONDO:0022656": "cardiomyopathy spherocytosis", "MONDO:0011878": "Worth syndrome", "MONDO:0000531": "bronchus mucoepidermoid carcinoma", "MONDO:0042974": "parainfluenza virus type 3 infectious disease", "MONDO:0021718": "polyneuritis", "MONDO:0001742": "interval angle-closure glaucoma", "MONDO:0004174": "secretory uterine corpus endometrioid adenocarcinoma", "MONDO:0021161": "gonococcal prostatitis", "MONDO:0003096": "deep hemangioma", "MONDO:0004180": "benign urinary system neoplasm", "MONDO:0001651": "scrotum squamous cell carcinoma", "MONDO:0005940": "respirovirus infectious disease", "MONDO:0005267": "heart disease", "MONDO:0004062": "intermediate cell type uveal melanoma", "MONDO:0002088": "partial retinal vein occlusion", "MONDO:0000266": "pulmonary aspergilloma", "MONDO:0002935": "penis basal cell carcinoma", "MONDO:0000693": "bipolar II disorder", "MONDO:0020683": "acute disease", "MONDO:0004523": "clear cell squamous cell skin carcinoma", "MONDO:0002548": "cellular schwannoma", "MONDO:0001331": "conjunctival deposit", "MONDO:0001648": "esophageal candidiasis", "MONDO:0043075": "neuroaxonal dystrophy renal tubular acidosis", "MONDO:0014988": "3-methylglutaconic aciduria, type VIII", "MONDO:0005242": "empyema", "MONDO:0003263": "childhood cerebellar neoplasm", "MONDO:0000784": "melon allergy", "MONDO:0003826": "mediastinum seminoma", "MONDO:0006550": "fibroepithelial polyp of urethra", "MONDO:0002078": "heart septal defect", "MONDO:0021921": "Arnold stickler bourne syndrome", "MONDO:0002225": "ovarian sarcoma", "MONDO:0001551": "ulceration of vulva", "MONDO:0001543": "lesion of sciatic nerve", "MONDO:0015373": "Saldino-Mainzer syndrome", "MONDO:0004614": "chronic monocytic leukemia", "MONDO:0002388": "intracystic papillary adenoma", "MONDO:0006873": "nutritional deficiency disease", "MONDO:0004594": "puerperal pulmonary embolism", "MONDO:0005235": "smoldering plasma cell myeloma", "MONDO:0005663": "Barre-Lieou syndrome", "MONDO:0022693": "cerebral calcification cerebellar hypoplasia", "MONDO:0000082": "pelvic organ prolapse", "MONDO:0022401": "agyria pachygyria polymicrogyria", "MONDO:0001293": "subglottis cancer", "MONDO:0021531": "fibroma of lung", "MONDO:0005083": "psoriasis", "MONDO:0021482": "benign neoplasm of middle ear", "MONDO:0004823": "dextrocardia", "MONDO:0004715": "liver carcinoma in situ", "MONDO:0004330": "leptomeningeal sarcoma", "MONDO:0009586": "mesangial sclerosis, diffuse renal, with ocular abnormalities", "MONDO:0001656": "megaesophagus", "MONDO:0003439": "urinary bladder villous adenoma", "MONDO:0003553": "ampulla of vater adenosquamous carcinoma", "MONDO:0003951": "scrotal hemangioma", "MONDO:0004287": "pancreatic foamy gland adenocarcinoma", "MONDO:0004646": "decubitus ulcer", "MONDO:0005554": "rheumatologic disorder", "MONDO:0003310": "Monckeberg arteriosclerosis", "MONDO:0000371": "oral cavity carcinoma in situ", "MONDO:0045024": "cell proliferation disorder", "MONDO:0006066": "acinar prostate adenocarcinoma, foamy gland variant", "MONDO:0003110": "skin hemangioma", "MONDO:0002347": "barbiturate dependence", "MONDO:0020590": "mycobacterial infectious disease", "MONDO:0004580": "retinal degeneration", "MONDO:0004467": "mature gastric teratoma", "MONDO:0001638": "protein-deficiency anemia", "MONDO:0006679": "bladder neck obstruction", "MONDO:0011876": "juvenile absence epilepsy", "MONDO:0022518": "autoimmune inner ear disease", "MONDO:0044680": "short rib-polydactyly syndrome type 5", "MONDO:0000608": "familial juvenile hyperuricemic nephropathy", "MONDO:0043762": "tubal pregnancy", "MONDO:0045028": "radiation or chemically induced disorder", "MONDO:0000987": "cholesterolosis of gallbladder", "MONDO:0024349": "pityriasis alba", "MONDO:0006603": "reactive cutaneous fibrous lesion", "MONDO:0001819": "multiple cranial nerve palsy", "MONDO:0021048": "benign mastocytoma", "MONDO:0002995": "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade", "MONDO:0000332": "sennetsu fever", "MONDO:0006112": "bladder inflammatory myofibroblastic tumor", "MONDO:0001030": "keratoconus, stable condition", "MONDO:0021171": "Timothy syndrome type 1 (disorder)", "MONDO:0018279": "congenital muscular dystrophy without intellectual disability", "MONDO:0006657": "apparent mineralocorticoid excess syndrome", "MONDO:0005477": "ventricular tachycardia", "MONDO:0043191": "radial defect robin sequence", "MONDO:0030708": "Trichomonas cervicitis", "MONDO:0017911": "cleft lip/palate-ectodermal dysplasia syndrome", "MONDO:0003327": "peripheral ganglioneuroblastoma", "MONDO:0024653": "skull neoplasm", "MONDO:0006578": "mediastinal lipomatosis", "MONDO:0003953": "pediatric CNS choriocarcinoma", "MONDO:0008345": "idiopathic pulmonary fibrosis", "MONDO:0003565": "urethral villous adenoma", "MONDO:0015067": "neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor", "MONDO:0006381": "plexiform ameloblastoma", "MONDO:0045020": "glycine metabolism disease", "MONDO:0003193": "bile duct adenocarcinoma", "MONDO:0000683": "topographical agnosia", "MONDO:0006905": "pigmented spindle cell nevus", "MONDO:0002443": "bruxism (disease)", "MONDO:0005320": "tibia fracture", "MONDO:0021380": "neoplasm of myocardium", "MONDO:0002859": "breast rhabdomyosarcoma", "MONDO:0021082": "Meckel diverticulum neoplasm", "MONDO:0003474": "tanycytic ependymoma", "MONDO:0005213": "uterine carcinoma", "MONDO:0022457": "ankyloblepharon filiforme imperforate anus", "MONDO:0003680": "periosteal chondrosarcoma", "MONDO:0001530": "secondary hyperparathyroidism of renal origin", "MONDO:0002032": "colon carcinoma", "MONDO:0021971": "Baraitser Rodeck garner syndrome", "MONDO:0021481": "benign neoplasm of submandibular gland", "MONDO:0004495": "myotonic cataract", "MONDO:0042960": "Sackey-Sakati-Aur syndrome", "MONDO:0020656": "human papillomavirus-related penile squamous cell carcinoma", "MONDO:0001146": "fourth cranial nerve palsy", "MONDO:0023179": "fragile X syndrome type 2", "MONDO:0004071": "childhood cerebral astrocytoma", "MONDO:0006156": "colon sessile serrated adenoma/polyp", "MONDO:0006146": "chondroid hamartoma", "MONDO:0005864": "muscle cancer", "MONDO:0012372": "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "MONDO:0022757": "chromosome 20 trisomy", "MONDO:0002543": "adult oligodendroglioma", "MONDO:0005862": "multiple chemical sensitivity", "MONDO:0100062": "developmental and epileptic encephalopathy", "MONDO:0003996": "basal ganglia disease", "MONDO:0009011": "constriction rings syndrome", "MONDO:0024335": "retrobulbar neuritis", "MONDO:0003849": "clivus chordoma", "MONDO:0000397": "ataxic cerebral palsy", "MONDO:0005660": "Avulavirus infectious disease", "MONDO:0022875": "cortada Koussef Matsumoto syndrome", "MONDO:0003653": "stork bite", "MONDO:0011469": "congenital amegakaryocytic thrombocytopenia", "MONDO:0004781": "acute myocardial infarction", "MONDO:0024430": "allesthesia", "MONDO:0003359": "myxoid leiomyosarcoma", "MONDO:0005550": "infectious disease", "MONDO:0022646": "cardiofacial syndrome short limbs", "MONDO:0022096": "pyogenic granuloma", "MONDO:0002120": "neuroendocrine carcinoma", "MONDO:0006981": "subacute bacterial endocarditis", "MONDO:0044344": "Schistosoma japonicum infectious disease", "MONDO:0006819": "kernicterus", "MONDO:0003741": "juvenile type testicular granulosa cell tumor", "MONDO:0006645": "alcoholic polyneuropathy", "MONDO:0045001": "cardiac ventricle disease", "MONDO:0005858": "mucinous cystadenocarcinoma", "MONDO:0005230": "cellulitis (disease)", "MONDO:0100078": "resistant hypertension", "MONDO:0003423": "middle ear adenoma", "MONDO:0011379": "medullary cystic kidney disease 2", "MONDO:0041879": "staphylococcus aureus pneumonia", "MONDO:0022685": "cerebellar agenesis", "MONDO:0045051": "cortical cataract", "MONDO:0022735": "choroid plexus cyst", "MONDO:0002811": "main bronchus cancer", "MONDO:0002067": "female breast upper-inner quadrant cancer", "MONDO:0023644": "lip and oral cavity carcinoma", "MONDO:0005016": "diabetic nephropathy", "MONDO:0007665": "primary open angle glaucoma", "MONDO:0019700": "primary bone dysplasia with multiple joint dislocations", "MONDO:0005160": "aortic aneurysm (disease)", "MONDO:0023066": "enchondromatosis dwarfism deafness", "MONDO:0003494": "ovarian squamous cell carcinoma", "MONDO:0006813": "intradermal nevus", "MONDO:0004611": "soft palate cancer", "MONDO:0006417": "small intestinal diffuse large B-cell lymphoma", "MONDO:0021607": "eyelid seborrheic keratosis", "MONDO:0004465": "periampullary adenocarcinoma", "MONDO:0004013": "adult vagina botryoid embryonal rhabdomyosarcoma", "MONDO:0024356": "primary central sleep apnea syndrome", "MONDO:0003195": "peritoneal serous adenocarcinoma", "MONDO:0003409": "colonic disease", "MONDO:0006405": "salivary gland small cell carcinoma", "MONDO:0001022": "disuse amblyopia", "MONDO:0024575": "pregnancy disorder", "MONDO:0043455": "humoral hypercalcemia of malignancy", "MONDO:0003434": "vaginal adenoma", "MONDO:0005374": "bone marrow neoplasm", "MONDO:0004631": "tongue cancer", "MONDO:0002931": "conjunctivochalasis", "MONDO:0004276": "ceruminoma", "MONDO:0001623": "cicatricial lagophthalmos (disease)", "MONDO:0006130": "central nervous system neoplasm", "MONDO:0001741": "hyperparathyroidism", "MONDO:0003537": "precursor T-lymphoblastic lymphoma/leukemia", "MONDO:0005800": "hordeolum", "MONDO:0023067": "endemic Kaposi sarcoma", "MONDO:0000873": "lymphoblastic lymphoma", "MONDO:0020662": "borderline ovarian serous tumor", "MONDO:0004893": "hypertropia", "MONDO:0005511": "janus kinase-3 deficiency", "MONDO:0012017": "Parkes Weber syndrome", "MONDO:0100026": "myoclonic encephalopathy in non-progressive disorder", "MONDO:0021233": "ear neoplasm", "MONDO:0006322": "non-neoplastic bile duct disorder", "MONDO:0000079": "nephrolithiasis/osteoporosis, hypophosphatemic", "MONDO:0003047": "thymic large cell neuroendocrine carcinoma", "MONDO:0004310": "adult embryonal tumor with multilayered rosettes, c19mc-altered", "MONDO:0002465": "bronchiolitis (disease)", "MONDO:0043101": "hypothalamic dysfunction", "MONDO:0045048": "toxemia of pregnancy", "MONDO:0003072": "retinal cancer", "MONDO:0002086": "clear cell acanthoma", "MONDO:0003774": "cerebral convexity meningioma", "MONDO:0004391": "adult extraosseous chondrosarcoma", "MONDO:0004106": "testicular yolk sac tumor, macrocystic pattern", "MONDO:0001698": "tinea profunda", "MONDO:0004572": "cyclothymic disorder", "MONDO:0025506": "porcine postweaning multisystemic wasting syndrome", "MONDO:0023052": "ectrodactyly polydactyly", "MONDO:0000479": "segmental dystonia", "MONDO:0008779": "arthrogryposis", "MONDO:0042915": "Schmitt-Gillenwater-Kelly syndrome", "MONDO:0004942": "orbit lymphoma", "MONDO:0003738": "selective IgE deficiency disease", "MONDO:0003334": "demyelinating polyneuropathy", "MONDO:0003581": "ovarian embryonal carcinoma", "MONDO:0004198": "testicular yolk sac tumor, solid pattern", "MONDO:0001333": "Patau syndrome", "MONDO:0005997": "tricuspid valve stenosis", "MONDO:0005269": "carotid artery disease", "MONDO:0002494": "substance-related disorder", "MONDO:0004425": "hyperthyroidism", "MONDO:0006838": "lupus vulgaris", "MONDO:0000884": "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities", "MONDO:0000837": "bone resorption disease", "MONDO:0003005": "macular retinal edema", "MONDO:0002073": "malignant pineal area germ cell neoplasm", "MONDO:0054867": "paraomphalocele", "MONDO:0025517": "shrimp allergy", "MONDO:0021383": "neoplasm of floor of mouth", "MONDO:0004279": "glossopharyngeal motor neuropathy", "MONDO:0005547": "desmoplastic medulloblastoma", "MONDO:0002719": "conus medullaris neoplasm", "MONDO:0004871": "perianal hematoma", "MONDO:0005983": "tinea favosa", "MONDO:0004051": "aleukemic monocytic leukemia cutis", "MONDO:0000994": "malignant prostate phyllodes tumor", "MONDO:0005796": "HIV enteropathy", "MONDO:0004111": "refractory hematologic cancer", "MONDO:0006181": "digestive system carcinoma", "MONDO:0000105": "anemia, nonspherocytic hemolytic", "MONDO:0002237": "carbuncle", "MONDO:0045014": "tetrahydrobiopterin metabolic process disease", "MONDO:0025066": "epidermitis, exudative, of swine", "MONDO:0000598": "aphasia", "MONDO:0056815": "liver adenosquamous carcinoma", "MONDO:0004415": "lipid-cell variant infiltrating bladder urothelial carcinoma", "MONDO:0002869": "heart valve disease", "MONDO:0003209": "thymus gland adenocarcinoma", "MONDO:0005995": "trichostrongylosis", "MONDO:0004244": "proximal-type epithelioid sarcoma", "MONDO:0005346": "gallstones", "MONDO:0004488": "cervical atypical polypoid adenomyoma", "MONDO:0003519": "malignant syringoma", "MONDO:0002355": "glottis carcinoma", "MONDO:0004486": "endocervical type cervical adenomyoma", "MONDO:0021098": "papillomatosis", "MONDO:0002654": "uterine disease", "MONDO:0001422": "primary aldosteronism", "MONDO:0006829": "leukemoid reaction", "MONDO:0004555": "kidney angiomyolipoma", "MONDO:0043106": "ichthyosis linearis circumflexa", "MONDO:0011707": "familial dyskinesia and facial myokymia", "MONDO:0002468": "hyperimmunoglobulin syndrome", "MONDO:0004412": "malignant spiradenoma", "MONDO:0021208": "endocrine alopecia", "MONDO:0005052": "irritable bowel syndrome", "MONDO:0005129": "cataract (disease)", "MONDO:0005834": "lymphogranuloma venereum", "MONDO:0004546": "lumbar plexus neoplasm", "MONDO:0004195": "thymic dysplasia", "MONDO:0003049": "ovarian large-cell neuroendocrine carcinoma", "MONDO:0004472": "breast columnar cell mucinous carcinoma", "MONDO:0007324": "chorea", "MONDO:0005829": "louping ill", "MONDO:0022894": "craniosynostosis autosomal dominant", "MONDO:0000405": "anal canal cancer", "MONDO:0000972": "gallbladder lipoma", "MONDO:0003468": "biphasic synovial sarcoma", "MONDO:0021230": "uterine cervix neoplasm", "MONDO:0006290": "malignant germ cell tumor", "MONDO:0004748": "lip disease", "MONDO:0006536": "congenital generalized lipodystrophy (disease)", "MONDO:0000297": "baylisascariasis", "MONDO:0021162": "carotenemia", "MONDO:0004598": "acute cor pulmonale", "MONDO:0002595": "vaccinia", "MONDO:0019510": "autosomal dominant medullary cystic kidney disease without hyperuricemia", "MONDO:0004116": "esophageal small cell neuroendocrine carcinoma", "MONDO:0003787": "childhood testicular mixed germ cell tumor", "MONDO:0005109": "HIV infectious disease", "MONDO:0021641": "Bunyaviridae infectious disease", "MONDO:0004022": "parasagittal meningioma", "MONDO:0001862": "malignant visceral pleura tumor", "MONDO:0021232": "pineal body neoplasm", "MONDO:0006206": "fallopian tube carcinoma", "MONDO:0004677": "tinea nigra", "MONDO:0021243": "parotid gland neoplasm", "MONDO:0019781": "astrocytoma (excluding glioblastoma)", "MONDO:0007002": "trochlear nerve disease", "MONDO:0043297": "vibrio vulnificus infectious disease", "MONDO:0000515": "bone chondrosarcoma", "MONDO:0003504": "anal canal neuroendocrine neoplasm", "MONDO:0002102": "cheilitis", "MONDO:0000302": "basidiobolomycosis", "MONDO:0022577": "Billet bear syndrome", "MONDO:0006960": "sciatic neuropathy", "MONDO:0001051": "acute otitis externa", "MONDO:0001105": "renal hypertension", "MONDO:0005574": "tauopathy", "MONDO:0004818": "benign neurilemmoma", "MONDO:0004616": "herpetic whitlow", "MONDO:0006805": "intermediate coronary syndrome", "MONDO:0021527": "benign neoplasm of meninges", "MONDO:0001214": "acute conjunctivitis", "MONDO:0005743": "encephalitozoonosis", "MONDO:0020704": "inherited rippling muscle disease", "MONDO:0006974": "small cell sarcoma", "MONDO:0010107": "testicular regression syndrome", "MONDO:0022333": "5-nucleotidase syndrome", "MONDO:0006996": "thyroid crisis (disease)", "MONDO:0021310": "malignant tumor of neck", "MONDO:0021224": "iris neoplasm", "MONDO:0021678": "gram-negative bacterial infections", "MONDO:0022772": "classic Kaposi sarcoma", "MONDO:0000344": "Ross river fever", "MONDO:0024388": "Clostridium infectious disease", "MONDO:0024885": "malignant ovarian serous tumor", "MONDO:0043768": "thrombocytopenic purpura", "MONDO:0000519": "corpus callosum oligodendroglioma", "MONDO:0006316": "neuroblastic tumor", "MONDO:0005356": "coronary vasospasm", "MONDO:0004784": "allergic asthma", "MONDO:0003561": "malignant giant cell tumor of soft parts", "MONDO:0000557": "hereditary ataxia", "MONDO:0000552": "breast lobular carcinoma", "MONDO:0006214": "follicular variant thyroid gland papillary carcinoma", "MONDO:0021097": "intraductal breast papilloma", "MONDO:0011329": "cerebral palsy, spastic quadriplegic, 1", "MONDO:0003980": "schwannoma of jugular foramen", "MONDO:0000160": "epilepsy, familial adult myoclonic", "MONDO:0001577": "respiratory syncytial virus infectious disease", "MONDO:0043139": "microcephaly sparse hair mental retardation seizures", "MONDO:0043959": "pseudolymphoma", "MONDO:0021168": "hibernoma", "MONDO:0002680": "chronic wasting disease", "MONDO:0002776": "external ear disease", "MONDO:0009068": "cytochrome-c oxidase deficiency disease", "MONDO:0024313": "staphylococcal infection", "MONDO:0019014": "mutilating palmoplantar keratoderma with periorificial keratotic plaques", "MONDO:0005650": "Arenaviridae infectious disease", "MONDO:0004457": "maxillary sinus Schneiderian papilloma", "MONDO:0022180": "chromosome 16 trisomy", "MONDO:0002222": "urethra leiomyoma", "MONDO:0002585": "breast fibrocystic change, proliferative type", "MONDO:0023011": "Wilson-Mikity syndrome", "MONDO:0044013": "puerperal disorder", "MONDO:0002661": "uveal disease", "MONDO:0002894": "spinal chordoma", "MONDO:0004422": "cerebral falx meningioma", "MONDO:0019331": "rare form of salmonellosis", "MONDO:0021643": "mesenteric varices", "MONDO:0022982": "die Smulders Vles Fryns syndrome", "MONDO:0001847": "nuclear senile cataract", "MONDO:0006215": "gallbladder adenocarcinoma", "MONDO:0002345": "cervicitis (disease)", "MONDO:0000771": "allergic respiratory disease", "MONDO:0004461": "vaginal tubulovillous adenoma", "MONDO:0005172": "skeletal system disease", "MONDO:0025167": "reticuloendotheliosis, avian", "MONDO:0003588": "larynx liposarcoma", "MONDO:0002973": "epithelioid cell melanoma", "MONDO:0005194": "Rotavirus infection", "MONDO:0005731": "dipetalonemiasis", "MONDO:0020649": "warty carcinoma of the penis", "MONDO:0003147": "space motion sickness", "MONDO:0001653": "prepuce cancer", "MONDO:0000991": "left bundle branch hemiblock", "MONDO:0003346": "central nervous system vasculitis", "MONDO:0024636": "inflammation of heart layer", "MONDO:0017288": "DICER1 syndrome", "MONDO:0002122": "neuritis", "MONDO:0022739": "Christian demyer franken syndrome", "MONDO:0043346": "progressive transformation of germinal centers", "MONDO:0021175": "herpetic vulvovaginitis", "MONDO:0005008": "colorectal adenocarcinoma", "MONDO:0004477": "adrenal gland ganglioneuroblastoma", "MONDO:0003878": "malignant choroid melanoma", "MONDO:0001812": "parasitic eyelid infestation", "MONDO:0001222": "congenital T-cell immunodeficiency", "MONDO:0021032": "herpes zoster with dermatitis of eyelid", "MONDO:0003240": "thyroid gland disease", "MONDO:0003265": "adjustment disorder", "MONDO:0003866": "liver extraskeletal osteosarcoma", "MONDO:0000919": "ampulla of vater cancer", "MONDO:0036591": "adrenal cortex neoplasm", "MONDO:0003092": "lacrimal gland mucoepidermoid carcinoma", "MONDO:0003802": "cornea cancer", "MONDO:0002789": "hemangiopericytic tumor", "MONDO:0005806": "hypopharynx cancer", "MONDO:0020650": "germ cell tumor of the vulva", "MONDO:0042962": "Slti-Salem syndrome", "MONDO:0021666": "ear infection", "MONDO:0004937": "hypervitaminosis D", "MONDO:0005922": "pleural tuberculosis", "MONDO:0005788": "hepatitis E infection", "MONDO:0000004": "adrenocortical insufficiency", "MONDO:0003388": "ampulla of vater clear cell adenocarcinoma", "MONDO:0000988": "discharging ear", "MONDO:0000534": "trachea mucoepidermoid carcinoma", "MONDO:0001191": "hirudiniasis", "MONDO:0003202": "pituitary gland basophilic carcinoma", "MONDO:0015989": "congenital valvular dysplasia", "MONDO:0005956": "septicemic plague", "MONDO:0006092": "appendix villous adenoma", "MONDO:0004014": "ethmoid sinus ectopic meningioma", "MONDO:0001705": "pure red-cell aplasia", "MONDO:0020678": "sensorineural hearing loss disorder", "MONDO:0006262": "lacrimal gland adenoid cystic carcinoma", "MONDO:0002886": "common bile duct disease", "MONDO:0024635": "small intestine disease", "MONDO:0006286": "major salivary gland mucoepidermoid carcinoma", "MONDO:0006400": "salivary gland acinic cell carcinoma", "MONDO:0005687": "Caliciviridae infectious disease", "MONDO:0002432": "malignant neoplasm of acoustic nerve", "MONDO:0023191": "Freire-Maia odontotrichomelic syndrome", "MONDO:0005598": "dopaminergic neuroblastoma", "MONDO:0022949": "defective apolipoprotein b-100", "MONDO:0001138": "angiodysplasia of intestine", "MONDO:0001259": "pituitary gland infarction", "MONDO:0024316": "physiological malfunction arising from mental factor", "MONDO:0004494": "testicular yolk sac tumor, hepatoid pattern", "MONDO:0001173": "acute salpingitis", "MONDO:0001260": "cercarial dermatitis", "MONDO:0006939": "pyelonephritis", "MONDO:0000650": "peritoneal benign neoplasm", "MONDO:0000496": "hemorrhagic cystitis", "MONDO:0006532": "cholesteatoma of external ear", "MONDO:0006047": "pancreatic adenocarcinoma", "MONDO:0004918": "central corneal ulcer", "MONDO:0003001": "seminoma", "MONDO:0001916": "gastrointestinal tularemia", "MONDO:0004996": "childhood acute myeloid leukemia", "MONDO:0005809": "infectious ectromelia", "MONDO:0000369": "abdominal tuberculosis", "MONDO:0020697": "lung epithelial-myoepithelial carcinoma", "MONDO:0005944": "Rhabdoviridae infectious disease", "MONDO:0031014": "autoimmune gastritis", "MONDO:0000030": "epilepsy, nocturnal frontal lobe", "MONDO:0023699": "Maroteaux Fonfria syndrome", "MONDO:0003800": "conventional malignant hemangiopericytoma", "MONDO:0045068": "minor salivary gland adenoid cystic carcinoma", "MONDO:0021632": "primary brain neoplasm", "MONDO:0004627": "duodenitis", "MONDO:0003867": "diffuse meningeal melanocytosis", "MONDO:0005278": "serous adenocarcinoma", "MONDO:0000596": "paraphilic disorder", "MONDO:0023557": "infective vaginitis", "MONDO:0001534": "ocular hyperemia", "MONDO:0006061": "cervical artery dissection", "MONDO:0043135": "microcephaly microphthalmos blindness", "MONDO:0000363": "gummatous syphilis", "MONDO:0004196": "rectal sarcomatoid carcinoma", "MONDO:0000306": "trichosporonosis", "MONDO:0006487": "vaginal adenoid cystic carcinoma", "MONDO:0021580": "neoplasm of jaw", "MONDO:0004178": "testicular yolk sac tumor, endodermal sinus pattern", "MONDO:0001707": "cardiac sarcoidosis", "MONDO:0003430": "prolactin producing pituitary tumor", "MONDO:0003799": "conjunctivitis (disease)", "MONDO:0001694": "diffuse interstitial keratitis", "MONDO:0005403": "neonatal systemic lupus erthematosus", "MONDO:0005786": "Hepadnaviridae infectious disease", "MONDO:0000894": "mucinous bronchioloalveolar adenocarcinoma", "MONDO:0002135": "optic nerve disease", "MONDO:0001337": "inflamed seborrheic keratosis", "MONDO:0002867": "pancreatic cystadenocarcinoma", "MONDO:0004020": "mediastinal gray zone lymphoma", "MONDO:0000448": "paraganglioma", "MONDO:0003697": "non-invasive verrucous carcinoma of the penis", "MONDO:0004462": "extrahepatic bile duct cystadenoma", "MONDO:0043994": "acute cholecystitis", "MONDO:0019715": "syndrome with synostosis or other joint formation defect", "MONDO:0002234": "vaginitis (disease)", "MONDO:0004827": "esophagus squamous cell papilloma", "MONDO:0000984": "thalassemia", "MONDO:0004899": "monofixation syndrome", "MONDO:0022599": "brachydactyly anonychia", "MONDO:0021484": "benign neoplasm of maxillary sinus", "MONDO:0003791": "prostatic urethral cancer", "MONDO:0006273": "low grade fibromyxoid sarcoma with giant collagen rosettes", "MONDO:0012819": "diabetic ketoacidosis", "MONDO:0004248": "pediatric infratentorial ependymoma", "MONDO:0006038": "indeterminate colitis", "MONDO:0018452": "deficiency of the interleukin-36 receptor antagonist", "MONDO:0022460": "anophthalmia cleft lip palate hypothalamic disorder", "MONDO:0002832": "endometrial transitional cell carcinoma", "MONDO:0005137": "nutritional disorder", "MONDO:0003868": "anterior foramen magnum meningioma", "MONDO:0005515": "oral cavity cancer", "MONDO:0004184": "urethral disease", "MONDO:0001538": "retinal ischemia", "MONDO:0025136": "tuberculosis, bovine", "MONDO:0000813": "cardiac tuberculosis", "MONDO:0001372": "bladder neck cancer", "MONDO:0002310": "anterior dislocation of lens", "MONDO:0000895": "nonmucinous bronchioloalveolar adenocarcinoma", "MONDO:0020779": "cartilage development disorder", "MONDO:0000965": "liver lipoma", "MONDO:0005433": "alcohol withdrawal", "MONDO:0021576": "fallopian tube endometrioid tumor", "MONDO:0004126": "thyroiditis (disease)", "MONDO:0002138": "allergic contact dermatitis of eyelid", "MONDO:0003349": "central nervous system leiomyosarcoma", "MONDO:0024623": "otorhinolaryngologic disease", "MONDO:0006584": "neonatal jaundice", "MONDO:0021758": "acquired agranulocytosis", "MONDO:0001870": "acute poststreptococcal glomerulonephritis", "MONDO:0042968": "partial duplication of chromosome 12", "MONDO:0004176": "childhood extraosseous osteosarcoma", "MONDO:0023121": "familial partial paralysis", "MONDO:0004841": "kidney hypertrophy", "MONDO:0022821": "congenital benign spinal muscular atrophy dominant", "MONDO:0004902": "interstitial keratitis", "MONDO:0024518": "reactive thrombocytosis", "MONDO:0002866": "duodenal disease", "MONDO:0040678": "infiltrating urothelial carcinoma", "MONDO:0006997": "tibial neuropathy", "MONDO:0002476": "anuria", "MONDO:0019706": "lysosomal storage disease with skeletal involvement", "MONDO:0004612": "malignant histiocytosis", "MONDO:0100028": "immune epilepsy", "MONDO:0022716": "Chiari malformation type 4", "MONDO:0000935": "larynx squamous papilloma", "MONDO:0003184": "trachea carcinoma", "MONDO:0000335": "parenchymatous neurosyphilis", "MONDO:0000309": "aniseikonia" }