NCPI FHIR Implementation Guide
0.2.0 - ci-build
NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions
| Draft as of 2022-12-09 |
{
"resourceType" : "CodeSystem",
"id" : "omim",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>https://omim.org/</code> defines many codes, of which the following are a subset:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">OMIM:613801<a name=\"omim-OMIM.58613801\"> </a></td><td>Retinitis pigmentosa-40</td></tr><tr><td style=\"white-space:nowrap\">OMIM:213300<a name=\"omim-OMIM.58213300\"> </a></td><td>Joubert syndrome 1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615780<a name=\"omim-OMIM.58615780\"> </a></td><td>Retinitis pigmentosa 69</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613826<a name=\"omim-OMIM.58613826\"> </a></td><td>Leber congenital amaurosis 6</td></tr><tr><td style=\"white-space:nowrap\">OMIM:310200<a name=\"omim-OMIM.58310200\"> </a></td><td>Duchenne muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617194<a name=\"omim-OMIM.58617194\"> </a></td><td>Lethal congenital contracture syndrome 11</td></tr><tr><td style=\"white-space:nowrap\">OMIM:105400<a name=\"omim-OMIM.58105400\"> </a></td><td>AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:108120<a name=\"omim-OMIM.58108120\"> </a></td><td>ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:114300<a name=\"omim-OMIM.58114300\"> </a></td><td>ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:115195<a name=\"omim-OMIM.58115195\"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:115196<a name=\"omim-OMIM.58115196\"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:115197<a name=\"omim-OMIM.58115197\"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:115200<a name=\"omim-OMIM.58115200\"> </a></td><td>CARDIOMYOPATHY, DILATED, 1A; CMD1A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:117000<a name=\"omim-OMIM.58117000\"> </a></td><td>CENTRAL CORE DISEASE OF MUSCLE; CCD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:117360<a name=\"omim-OMIM.58117360\"> </a></td><td>SPINOCEREBELLAR ATAXIA 29; SCA29</td></tr><tr><td style=\"white-space:nowrap\">OMIM:119530<a name=\"omim-OMIM.58119530\"> </a></td><td>OROFACIAL CLEFT 1; OFC1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:122470<a name=\"omim-OMIM.58122470\"> </a></td><td>CORNELIA DE LANGE SYNDROME 1; CDLS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:130600<a name=\"omim-OMIM.58130600\"> </a></td><td>ELLIPTOCYTOSIS 2; EL2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:135900<a name=\"omim-OMIM.58135900\"> </a></td><td>COFFIN-SIRIS SYNDROME 1; CSS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:136140<a name=\"omim-OMIM.58136140\"> </a></td><td>FLOATING-HARBOR SYNDROME; FLHS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:137920<a name=\"omim-OMIM.58137920\"> </a></td><td>RENAL CYSTS AND DIABETES SYNDROME; RCAD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:139090<a name=\"omim-OMIM.58139090\"> </a></td><td>GRAY PLATELET SYNDROME; GPS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:139210<a name=\"omim-OMIM.58139210\"> </a></td><td>MYHRE SYNDROME; MYHRS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:143095<a name=\"omim-OMIM.58143095\"> </a></td><td>SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:143465<a name=\"omim-OMIM.58143465\"> </a></td><td>ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:147891<a name=\"omim-OMIM.58147891\"> </a></td><td>ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:147920<a name=\"omim-OMIM.58147920\"> </a></td><td>KABUKI SYNDROME 1; KABUK1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:148050<a name=\"omim-OMIM.58148050\"> </a></td><td>KBG SYNDROME; KBGS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:149400<a name=\"omim-OMIM.58149400\"> </a></td><td>HYPEREKPLEXIA 1; HKPX1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:152950<a name=\"omim-OMIM.58152950\"> </a></td><td>MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR</td></tr><tr><td style=\"white-space:nowrap\">OMIM:153670<a name=\"omim-OMIM.58153670\"> </a></td><td>BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:154400<a name=\"omim-OMIM.58154400\"> </a></td><td>ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:154700<a name=\"omim-OMIM.58154700\"> </a></td><td>MARFAN SYNDROME; MFS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:155310<a name=\"omim-OMIM.58155310\"> </a></td><td>VISCERAL MYOPATHY; VSCM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:158590<a name=\"omim-OMIM.58158590\"> </a></td><td>NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:158810<a name=\"omim-OMIM.58158810\"> </a></td><td>BETHLEM MYOPATHY 1; BTHLM1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:159550<a name=\"omim-OMIM.58159550\"> </a></td><td>ATAXIA-PANCYTOPENIA SYNDROME; ATXPC</td></tr><tr><td style=\"white-space:nowrap\">OMIM:160150<a name=\"omim-OMIM.58160150\"> </a></td><td>MYOPATHY, CENTRONUCLEAR, 1; CNM1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:160500<a name=\"omim-OMIM.58160500\"> </a></td><td>MYOPATHY, DISTAL, 1; MPD1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:160800<a name=\"omim-OMIM.58160800\"> </a></td><td>MYOTONIA CONGENITA, AUTOSOMAL DOMINANT</td></tr><tr><td style=\"white-space:nowrap\">OMIM:160900<a name=\"omim-OMIM.58160900\"> </a></td><td>MYOTONIC DYSTROPHY 1; DM1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:161800<a name=\"omim-OMIM.58161800\"> </a></td><td>NEMALINE MYOPATHY 3; NEM3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:163950<a name=\"omim-OMIM.58163950\"> </a></td><td>NOONAN SYNDROME 1; NS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:178110<a name=\"omim-OMIM.58178110\"> </a></td><td>CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:178500<a name=\"omim-OMIM.58178500\"> </a></td><td>PULMONARY FIBROSIS, IDIOPATHIC; IPF</td></tr><tr><td style=\"white-space:nowrap\">OMIM:180100<a name=\"omim-OMIM.58180100\"> </a></td><td>RETINITIS PIGMENTOSA 1; RP1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:180849<a name=\"omim-OMIM.58180849\"> </a></td><td>RUBINSTEIN-TAYBI SYNDROME 1; RSTS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:181430<a name=\"omim-OMIM.58181430\"> </a></td><td>SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:182601<a name=\"omim-OMIM.58182601\"> </a></td><td>SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:188000<a name=\"omim-OMIM.58188000\"> </a></td><td>THROMBOCYTOPENIA 2; THC2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:191480<a name=\"omim-OMIM.58191480\"> </a></td><td>UNCOMBABLE HAIR SYNDROME 1; UHS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:203800<a name=\"omim-OMIM.58203800\"> </a></td><td>ALSTROM SYNDROME; ALMS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:204200<a name=\"omim-OMIM.58204200\"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:204500<a name=\"omim-OMIM.58204500\"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:205100<a name=\"omim-OMIM.58205100\"> </a></td><td>AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:206900<a name=\"omim-OMIM.58206900\"> </a></td><td>MICROPHTHALMIA, SYNDROMIC 3; MCOPS3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:208900<a name=\"omim-OMIM.58208900\"> </a></td><td>ATAXIA-TELANGIECTASIA; AT</td></tr><tr><td style=\"white-space:nowrap\">OMIM:209850<a name=\"omim-OMIM.58209850\"> </a></td><td>AUTISM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:209900<a name=\"omim-OMIM.58209900\"> </a></td><td>BARDET-BIEDL SYNDROME 1; BBS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:210000<a name=\"omim-OMIM.58210000\"> </a></td><td>BEHR SYNDROME; BEHRS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:210720<a name=\"omim-OMIM.58210720\"> </a></td><td>MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:210900<a name=\"omim-OMIM.58210900\"> </a></td><td>BLOOM SYNDROME; BLM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:212065<a name=\"omim-OMIM.58212065\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:212066<a name=\"omim-OMIM.58212066\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:214500<a name=\"omim-OMIM.58214500\"> </a></td><td>CHEDIAK-HIGASHI SYNDROME; CHS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:214800<a name=\"omim-OMIM.58214800\"> </a></td><td>CHARGE SYNDROME</td></tr><tr><td style=\"white-space:nowrap\">OMIM:215500<a name=\"omim-OMIM.58215500\"> </a></td><td>CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:216400<a name=\"omim-OMIM.58216400\"> </a></td><td>COCKAYNE SYNDROME A; CSA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:216550<a name=\"omim-OMIM.58216550\"> </a></td><td>COHEN SYNDROME; COH1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:217080<a name=\"omim-OMIM.58217080\"> </a></td><td>JALILI SYNDROME</td></tr><tr><td style=\"white-space:nowrap\">OMIM:217980<a name=\"omim-OMIM.58217980\"> </a></td><td>CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:218340<a name=\"omim-OMIM.58218340\"> </a></td><td>TEMTAMY SYNDROME; TEMTYS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:219200<a name=\"omim-OMIM.58219200\"> </a></td><td>CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:224050<a name=\"omim-OMIM.58224050\"> </a></td><td>CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:224690<a name=\"omim-OMIM.58224690\"> </a></td><td>MEIER-GORLIN SYNDROME 1; MGORS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:225753<a name=\"omim-OMIM.58225753\"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:225790<a name=\"omim-OMIM.58225790\"> </a></td><td>PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH</td></tr><tr><td style=\"white-space:nowrap\">OMIM:227650<a name=\"omim-OMIM.58227650\"> </a></td><td>FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:229600<a name=\"omim-OMIM.58229600\"> </a></td><td>FRUCTOSE INTOLERANCE, HEREDITARY; HFI</td></tr><tr><td style=\"white-space:nowrap\">OMIM:230000<a name=\"omim-OMIM.58230000\"> </a></td><td>FUCOSIDOSIS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:230500<a name=\"omim-OMIM.58230500\"> </a></td><td>GM1-GANGLIOSIDOSIS, TYPE I</td></tr><tr><td style=\"white-space:nowrap\">OMIM:232300<a name=\"omim-OMIM.58232300\"> </a></td><td>GLYCOGEN STORAGE DISEASE II; GSD2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:232600<a name=\"omim-OMIM.58232600\"> </a></td><td>GLYCOGEN STORAGE DISEASE V; GSD5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:234200<a name=\"omim-OMIM.58234200\"> </a></td><td>NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:234500<a name=\"omim-OMIM.58234500\"> </a></td><td>HARTNUP DISORDER; HND</td></tr><tr><td style=\"white-space:nowrap\">OMIM:236000<a name=\"omim-OMIM.58236000\"> </a></td><td>LYMPHOMA, HODGKIN, CLASSIC; CHL</td></tr><tr><td style=\"white-space:nowrap\">OMIM:236600<a name=\"omim-OMIM.58236600\"> </a></td><td>HYDROCEPHALUS, CONGENITAL, 1; HYC1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:236792<a name=\"omim-OMIM.58236792\"> </a></td><td>L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:243310<a name=\"omim-OMIM.58243310\"> </a></td><td>BARAITSER-WINTER SYNDROME 1; BRWS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:244450<a name=\"omim-OMIM.58244450\"> </a></td><td>KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:245200<a name=\"omim-OMIM.58245200\"> </a></td><td>KRABBE DISEASE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:245359<a name=\"omim-OMIM.58245359\"> </a></td><td>missing</td></tr><tr><td style=\"white-space:nowrap\">OMIM:248200<a name=\"omim-OMIM.58248200\"> </a></td><td>STARGARDT DISEASE 1; STGD1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:248700<a name=\"omim-OMIM.58248700\"> </a></td><td>MARDEN-WALKER SYNDROME; MWKS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:249000<a name=\"omim-OMIM.58249000\"> </a></td><td>MECKEL SYNDROME, TYPE 1; MKS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:249900<a name=\"omim-OMIM.58249900\"> </a></td><td>METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY</td></tr><tr><td style=\"white-space:nowrap\">OMIM:250100<a name=\"omim-OMIM.58250100\"> </a></td><td>METACHROMATIC LEUKODYSTROPHY; MLD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:250620<a name=\"omim-OMIM.58250620\"> </a></td><td>3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:251200<a name=\"omim-OMIM.58251200\"> </a></td><td>MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:251260<a name=\"omim-OMIM.58251260\"> </a></td><td>NIJMEGEN BREAKAGE SYNDROME; NBS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:251280<a name=\"omim-OMIM.58251280\"> </a></td><td>DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:251290<a name=\"omim-OMIM.58251290\"> </a></td><td>PSEUDO-TORCH SYNDROME 1; PTORCH1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:251300<a name=\"omim-OMIM.58251300\"> </a></td><td>GALLOWAY-MOWAT SYNDROME 1; GAMOS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:252010<a name=\"omim-OMIM.58252010\"> </a></td><td>MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:252160<a name=\"omim-OMIM.58252160\"> </a></td><td>MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB</td></tr><tr><td style=\"white-space:nowrap\">OMIM:252920<a name=\"omim-OMIM.58252920\"> </a></td><td>MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B</td></tr><tr><td style=\"white-space:nowrap\">OMIM:253250<a name=\"omim-OMIM.58253250\"> </a></td><td>MULIBREY NANISM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:253600<a name=\"omim-OMIM.58253600\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:253601<a name=\"omim-OMIM.58253601\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:253700<a name=\"omim-OMIM.58253700\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:254090<a name=\"omim-OMIM.58254090\"> </a></td><td>ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:254110<a name=\"omim-OMIM.58254110\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8</td></tr><tr><td style=\"white-space:nowrap\">OMIM:254300<a name=\"omim-OMIM.58254300\"> </a></td><td>MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:254780<a name=\"omim-OMIM.58254780\"> </a></td><td>MYOCLONIC EPILEPSY OF LAFORA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:254940<a name=\"omim-OMIM.58254940\"> </a></td><td>CAREY-FINEMAN-ZITER SYNDROME; CFZS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:255310<a name=\"omim-OMIM.58255310\"> </a></td><td>MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:255320<a name=\"omim-OMIM.58255320\"> </a></td><td>MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:255800<a name=\"omim-OMIM.58255800\"> </a></td><td>SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:256000<a name=\"omim-OMIM.58256000\"> </a></td><td>LEIGH SYNDROME; LS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:256300<a name=\"omim-OMIM.58256300\"> </a></td><td>NEPHROTIC SYNDROME, TYPE 1; NPHS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:256600<a name=\"omim-OMIM.58256600\"> </a></td><td>NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:256700<a name=\"omim-OMIM.58256700\"> </a></td><td>NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:256730<a name=\"omim-OMIM.58256730\"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:256731<a name=\"omim-OMIM.58256731\"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:256800<a name=\"omim-OMIM.58256800\"> </a></td><td>INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:256850<a name=\"omim-OMIM.58256850\"> </a></td><td>GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:257220<a name=\"omim-OMIM.58257220\"> </a></td><td>NIEMANN-PICK DISEASE, TYPE C1; NPC1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:257320<a name=\"omim-OMIM.58257320\"> </a></td><td>LISSENCEPHALY 2; LIS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:260400<a name=\"omim-OMIM.58260400\"> </a></td><td>SHWACHMAN-DIAMOND SYNDROME 1; SDS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:260565<a name=\"omim-OMIM.58260565\"> </a></td><td>PEHO SYNDROME; PEHO</td></tr><tr><td style=\"white-space:nowrap\">OMIM:261630<a name=\"omim-OMIM.58261630\"> </a></td><td>HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C</td></tr><tr><td style=\"white-space:nowrap\">OMIM:262500<a name=\"omim-OMIM.58262500\"> </a></td><td>LARON SYNDROME</td></tr><tr><td style=\"white-space:nowrap\">OMIM:263200<a name=\"omim-OMIM.58263200\"> </a></td><td>POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:265000<a name=\"omim-OMIM.58265000\"> </a></td><td>MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:266100<a name=\"omim-OMIM.58266100\"> </a></td><td>EPILEPSY, PYRIDOXINE-DEPENDENT; EPD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:266265<a name=\"omim-OMIM.58266265\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C</td></tr><tr><td style=\"white-space:nowrap\">OMIM:266500<a name=\"omim-OMIM.58266500\"> </a></td><td>REFSUM DISEASE, CLASSIC</td></tr><tr><td style=\"white-space:nowrap\">OMIM:266510<a name=\"omim-OMIM.58266510\"> </a></td><td>PEROXISOME BIOGENESIS DISORDER 3B; PBD3B</td></tr><tr><td style=\"white-space:nowrap\">OMIM:268800<a name=\"omim-OMIM.58268800\"> </a></td><td>SANDHOFF DISEASE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:270200<a name=\"omim-OMIM.58270200\"> </a></td><td>SJOGREN-LARSSON SYNDROME; SLS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:270800<a name=\"omim-OMIM.58270800\"> </a></td><td>SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:271900<a name=\"omim-OMIM.58271900\"> </a></td><td>CANAVAN DISEASE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:272800<a name=\"omim-OMIM.58272800\"> </a></td><td>TAY-SACHS DISEASE; TSD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:273300<a name=\"omim-OMIM.58273300\"> </a></td><td>TESTICULAR GERM CELL TUMOR; TGCT</td></tr><tr><td style=\"white-space:nowrap\">OMIM:274000<a name=\"omim-OMIM.58274000\"> </a></td><td>THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR</td></tr><tr><td style=\"white-space:nowrap\">OMIM:276901<a name=\"omim-OMIM.58276901\"> </a></td><td>USHER SYNDROME, TYPE IIA; USH2A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:277470<a name=\"omim-OMIM.58277470\"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300029<a name=\"omim-OMIM.58300029\"> </a></td><td>RETINITIS PIGMENTOSA 3; RP3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300067<a name=\"omim-OMIM.58300067\"> </a></td><td>LISSENCEPHALY, X-LINKED, 1; LISX1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300088<a name=\"omim-OMIM.58300088\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300100<a name=\"omim-OMIM.58300100\"> </a></td><td>ADRENOLEUKODYSTROPHY; ALD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300376<a name=\"omim-OMIM.58300376\"> </a></td><td>MUSCULAR DYSTROPHY, BECKER TYPE; BMD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300387<a name=\"omim-OMIM.58300387\"> </a></td><td>MENTAL RETARDATION, X-LINKED 63; MRX63</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300476<a name=\"omim-OMIM.58300476\"> </a></td><td>CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300486<a name=\"omim-OMIM.58300486\"> </a></td><td>MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300495<a name=\"omim-OMIM.58300495\"> </a></td><td>AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300523<a name=\"omim-OMIM.58300523\"> </a></td><td>ALLAN-HERNDON-DUDLEY SYNDROME; AHDS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300534<a name=\"omim-OMIM.58300534\"> </a></td><td>MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300695<a name=\"omim-OMIM.58300695\"> </a></td><td>SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300749<a name=\"omim-OMIM.58300749\"> </a></td><td>MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300804<a name=\"omim-OMIM.58300804\"> </a></td><td>JOUBERT SYNDROME 10; JBTS10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300881<a name=\"omim-OMIM.58300881\"> </a></td><td>MOVED TO 615777</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300882<a name=\"omim-OMIM.58300882\"> </a></td><td>CORNELIA DE LANGE SYNDROME 5; CDLS5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300894<a name=\"omim-OMIM.58300894\"> </a></td><td>NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300908<a name=\"omim-OMIM.58300908\"> </a></td><td>ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300957<a name=\"omim-OMIM.58300957\"> </a></td><td>MENTAL RETARDATION, X-LINKED 12; MRX12</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300958<a name=\"omim-OMIM.58300958\"> </a></td><td>INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300966<a name=\"omim-OMIM.58300966\"> </a></td><td>MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300968<a name=\"omim-OMIM.58300968\"> </a></td><td>MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300983<a name=\"omim-OMIM.58300983\"> </a></td><td>MENTAL RETARDATION, X-LINKED 104; MRX104</td></tr><tr><td style=\"white-space:nowrap\">OMIM:300986<a name=\"omim-OMIM.58300986\"> </a></td><td>MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB</td></tr><tr><td style=\"white-space:nowrap\">OMIM:301050<a name=\"omim-OMIM.58301050\"> </a></td><td>ALPORT SYNDROME 1, X-LINKED; ATS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:301310<a name=\"omim-OMIM.58301310\"> </a></td><td>ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT</td></tr><tr><td style=\"white-space:nowrap\">OMIM:304340<a name=\"omim-OMIM.58304340\"> </a></td><td>PETTIGREW SYNDROME; PGS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:305100<a name=\"omim-OMIM.58305100\"> </a></td><td>ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED</td></tr><tr><td style=\"white-space:nowrap\">OMIM:308350<a name=\"omim-OMIM.58308350\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:309500<a name=\"omim-OMIM.58309500\"> </a></td><td>RENPENNING SYNDROME 1; RENS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:309541<a name=\"omim-OMIM.58309541\"> </a></td><td>METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:309580<a name=\"omim-OMIM.58309580\"> </a></td><td>MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:310468<a name=\"omim-OMIM.58310468\"> </a></td><td>NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN</td></tr><tr><td style=\"white-space:nowrap\">OMIM:311070<a name=\"omim-OMIM.58311070\"> </a></td><td>CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:313850<a name=\"omim-OMIM.58313850\"> </a></td><td>THORACOABDOMINAL SYNDROME; THAS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:314580<a name=\"omim-OMIM.58314580\"> </a></td><td>WIEACKER-WOLFF SYNDROME; WRWF</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600059<a name=\"omim-OMIM.58600059\"> </a></td><td>RETINITIS PIGMENTOSA 13; RP13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600105<a name=\"omim-OMIM.58600105\"> </a></td><td>RETINITIS PIGMENTOSA 12; RP12</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600118<a name=\"omim-OMIM.58600118\"> </a></td><td>WARBURG MICRO SYNDROME 1; WARBM1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600132<a name=\"omim-OMIM.58600132\"> </a></td><td>RETINITIS PIGMENTOSA 14; RP14</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600138<a name=\"omim-OMIM.58600138\"> </a></td><td>RETINITIS PIGMENTOSA 11; RP11</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600143<a name=\"omim-OMIM.58600143\"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600334<a name=\"omim-OMIM.58600334\"> </a></td><td>TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600373<a name=\"omim-OMIM.58600373\"> </a></td><td>CODAS SYNDROME</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600618<a name=\"omim-OMIM.58600618\"> </a></td><td>ETS VARIANT GENE 6; ETV6</td></tr><tr><td style=\"white-space:nowrap\">OMIM:600995<a name=\"omim-OMIM.58600995\"> </a></td><td>NEPHROTIC SYNDROME, TYPE 2; NPHS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:601088<a name=\"omim-OMIM.58601088\"> </a></td><td>AYME-GRIPP SYNDROME; AYGRP</td></tr><tr><td style=\"white-space:nowrap\">OMIM:601414<a name=\"omim-OMIM.58601414\"> </a></td><td>RETINITIS PIGMENTOSA 18; RP18</td></tr><tr><td style=\"white-space:nowrap\">OMIM:601419<a name=\"omim-OMIM.58601419\"> </a></td><td>MYOPATHY, MYOFIBRILLAR, 1; MFM1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:601680<a name=\"omim-OMIM.58601680\"> </a></td><td>ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:601718<a name=\"omim-OMIM.58601718\"> </a></td><td>RETINITIS PIGMENTOSA 19; RP19</td></tr><tr><td style=\"white-space:nowrap\">OMIM:601780<a name=\"omim-OMIM.58601780\"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6</td></tr><tr><td style=\"white-space:nowrap\">OMIM:601815<a name=\"omim-OMIM.58601815\"> </a></td><td>PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:601954<a name=\"omim-OMIM.58601954\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:602482<a name=\"omim-OMIM.58602482\"> </a></td><td>AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:602579<a name=\"omim-OMIM.58602579\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B</td></tr><tr><td style=\"white-space:nowrap\">OMIM:602772<a name=\"omim-OMIM.58602772\"> </a></td><td>RETINITIS PIGMENTOSA 25; RP25</td></tr><tr><td style=\"white-space:nowrap\">OMIM:603511<a name=\"omim-OMIM.58603511\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:603896<a name=\"omim-OMIM.58603896\"> </a></td><td>LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604004<a name=\"omim-OMIM.58604004\"> </a></td><td>MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604116<a name=\"omim-OMIM.58604116\"> </a></td><td>CONE-ROD DYSTROPHY 3; CORD3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604273<a name=\"omim-OMIM.58604273\"> </a></td><td>MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604286<a name=\"omim-OMIM.58604286\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604317<a name=\"omim-OMIM.58604317\"> </a></td><td>MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604360<a name=\"omim-OMIM.58604360\"> </a></td><td>SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604387<a name=\"omim-OMIM.58604387\"> </a></td><td>NEPHRONOPHTHISIS 3; NPHP3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604537<a name=\"omim-OMIM.58604537\"> </a></td><td>LEBER CONGENITAL AMAUROSIS 5; LCA5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:604592<a name=\"omim-OMIM.58604592\"> </a></td><td>T CELL IMMUNE REGULATOR 1; TCIRG1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:605130<a name=\"omim-OMIM.58605130\"> </a></td><td>WIEDEMANN-STEINER SYNDROME; WDSTS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:605355<a name=\"omim-OMIM.58605355\"> </a></td><td>NEMALINE MYOPATHY 5; NEM5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:605407<a name=\"omim-OMIM.58605407\"> </a></td><td>SEGAWA SYNDROME, AUTOSOMAL RECESSIVE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:605637<a name=\"omim-OMIM.58605637\"> </a></td><td>MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP</td></tr><tr><td style=\"white-space:nowrap\">OMIM:605670<a name=\"omim-OMIM.58605670\"> </a></td><td>LATE-ONSET RETINAL DEGENERATION; LORD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:605820<a name=\"omim-OMIM.58605820\"> </a></td><td>NONAKA MYOPATHY; NM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:605899<a name=\"omim-OMIM.58605899\"> </a></td><td>GLYCINE ENCEPHALOPATHY; GCE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:606068<a name=\"omim-OMIM.58606068\"> </a></td><td>RETINITIS PIGMENTOSA 28; RP28</td></tr><tr><td style=\"white-space:nowrap\">OMIM:606170<a name=\"omim-OMIM.58606170\"> </a></td><td>GENITOPATELLAR SYNDROME; GTPTS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:606232<a name=\"omim-OMIM.58606232\"> </a></td><td>PHELAN-MCDERMID SYNDROME; PHMDS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:606777<a name=\"omim-OMIM.58606777\"> </a></td><td>GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:606854<a name=\"omim-OMIM.58606854\"> </a></td><td>POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP</td></tr><tr><td style=\"white-space:nowrap\">OMIM:606966<a name=\"omim-OMIM.58606966\"> </a></td><td>NEPHRONOPHTHISIS 4; NPHP4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:606996<a name=\"omim-OMIM.58606996\"> </a></td><td>SENIOR-LOKEN SYNDROME 4; SLSN4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607015<a name=\"omim-OMIM.58607015\"> </a></td><td>HURLER-SCHEIE SYNDROME</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607155<a name=\"omim-OMIM.58607155\"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607196<a name=\"omim-OMIM.58607196\"> </a></td><td>MICROCEPHALY, AMISH TYPE; MCPHA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607225<a name=\"omim-OMIM.58607225\"> </a></td><td>SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607426<a name=\"omim-OMIM.58607426\"> </a></td><td>COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607432<a name=\"omim-OMIM.58607432\"> </a></td><td>LISSENCEPHALY 1; LIS1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607483<a name=\"omim-OMIM.58607483\"> </a></td><td>THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607595<a name=\"omim-OMIM.58607595\"> </a></td><td>MOVED TO 175780</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607596<a name=\"omim-OMIM.58607596\"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:607855<a name=\"omim-OMIM.58607855\"> </a></td><td>MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608027<a name=\"omim-OMIM.58608027\"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608091<a name=\"omim-OMIM.58608091\"> </a></td><td>JOUBERT SYNDROME 2; JBTS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608099<a name=\"omim-OMIM.58608099\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608133<a name=\"omim-OMIM.58608133\"> </a></td><td>RETINITIS PIGMENTOSA 7; RP7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608358<a name=\"omim-OMIM.58608358\"> </a></td><td>MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608380<a name=\"omim-OMIM.58608380\"> </a></td><td>RETINITIS PIGMENTOSA 26; RP26</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608393<a name=\"omim-OMIM.58608393\"> </a></td><td>MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608415<a name=\"omim-OMIM.58608415\"> </a></td><td>PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608423<a name=\"omim-OMIM.58608423\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608540<a name=\"omim-OMIM.58608540\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608629<a name=\"omim-OMIM.58608629\"> </a></td><td>JOUBERT SYNDROME 3; JBTS3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608643<a name=\"omim-OMIM.58608643\"> </a></td><td>AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608716<a name=\"omim-OMIM.58608716\"> </a></td><td>MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608804<a name=\"omim-OMIM.58608804\"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:608807<a name=\"omim-OMIM.58608807\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609033<a name=\"omim-OMIM.58609033\"> </a></td><td>POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609056<a name=\"omim-OMIM.58609056\"> </a></td><td>SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609195<a name=\"omim-OMIM.58609195\"> </a></td><td>SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609200<a name=\"omim-OMIM.58609200\"> </a></td><td>MYOPATHY, MYOFIBRILLAR, 3; MFM3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609260<a name=\"omim-OMIM.58609260\"> </a></td><td>CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609270<a name=\"omim-OMIM.58609270\"> </a></td><td>SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609304<a name=\"omim-OMIM.58609304\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609524<a name=\"omim-OMIM.58609524\"> </a></td><td>MYOPATHY, MYOFIBRILLAR, 5; MFM5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609560<a name=\"omim-OMIM.58609560\"> </a></td><td>MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:609923<a name=\"omim-OMIM.58609923\"> </a></td><td>RETINITIS PIGMENTOSA 31; RP31</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610019<a name=\"omim-OMIM.58610019\"> </a></td><td>CATARACT 18; CTRCT18</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610031<a name=\"omim-OMIM.58610031\"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610127<a name=\"omim-OMIM.58610127\"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610181<a name=\"omim-OMIM.58610181\"> </a></td><td>AICARDI-GOUTIERES SYNDROME 2; AGS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610188<a name=\"omim-OMIM.58610188\"> </a></td><td>JOUBERT SYNDROME 5; JBTS5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610217<a name=\"omim-OMIM.58610217\"> </a></td><td>NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610329<a name=\"omim-OMIM.58610329\"> </a></td><td>AICARDI-GOUTIERES SYNDROME 3; AGS3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610333<a name=\"omim-OMIM.58610333\"> </a></td><td>AICARDI-GOUTIERES SYNDROME 4; AGS4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610359<a name=\"omim-OMIM.58610359\"> </a></td><td>RETINITIS PIGMENTOSA 33; RP33</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610443<a name=\"omim-OMIM.58610443\"> </a></td><td>KOOLEN-DE VRIES SYNDROME; KDVS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610444<a name=\"omim-OMIM.58610444\"> </a></td><td>NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610489<a name=\"omim-OMIM.58610489\"> </a></td><td>PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610532<a name=\"omim-OMIM.58610532\"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610688<a name=\"omim-OMIM.58610688\"> </a></td><td>JOUBERT SYNDROME 6; JBTS6</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610725<a name=\"omim-OMIM.58610725\"> </a></td><td>NEPHROTIC SYNDROME, TYPE 3; NPHS3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:610951<a name=\"omim-OMIM.58610951\"> </a></td><td>CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611091<a name=\"omim-OMIM.58611091\"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611302<a name=\"omim-OMIM.58611302\"> </a></td><td>SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611307<a name=\"omim-OMIM.58611307\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611560<a name=\"omim-OMIM.58611560\"> </a></td><td>JOUBERT SYNDROME 7; JBTS7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611603<a name=\"omim-OMIM.58611603\"> </a></td><td>LISSENCEPHALY 3; LIS3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611705<a name=\"omim-OMIM.58611705\"> </a></td><td>SALIH MYOPATHY; SALMY</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611721<a name=\"omim-OMIM.58611721\"> </a></td><td>COMBINED SAPOSIN DEFICIENCY</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611726<a name=\"omim-OMIM.58611726\"> </a></td><td>EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:611755<a name=\"omim-OMIM.58611755\"> </a></td><td>LEBER CONGENITAL AMAUROSIS 10; LCA10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612015<a name=\"omim-OMIM.58612015\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612095<a name=\"omim-OMIM.58612095\"> </a></td><td>RETINITIS PIGMENTOSA 41; RP41</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612126<a name=\"omim-OMIM.58612126\"> </a></td><td>GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612285<a name=\"omim-OMIM.58612285\"> </a></td><td>JOUBERT SYNDROME 9; JBTS9</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612337<a name=\"omim-OMIM.58612337\"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612370<a name=\"omim-OMIM.58612370\"> </a></td><td>HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612438<a name=\"omim-OMIM.58612438\"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612528<a name=\"omim-OMIM.58612528\"> </a></td><td>DIAMOND-BLACKFAN ANEMIA 5; DBA5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612621<a name=\"omim-OMIM.58612621\"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612712<a name=\"omim-OMIM.58612712\"> </a></td><td>LEBER CONGENITAL AMAUROSIS 13; LCA13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612716<a name=\"omim-OMIM.58612716\"> </a></td><td>DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612780<a name=\"omim-OMIM.58612780\"> </a></td><td>SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612936<a name=\"omim-OMIM.58612936\"> </a></td><td>SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612943<a name=\"omim-OMIM.58612943\"> </a></td><td>RETINITIS PIGMENTOSA 42; RP42</td></tr><tr><td style=\"white-space:nowrap\">OMIM:612951<a name=\"omim-OMIM.58612951\"> </a></td><td>LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613065<a name=\"omim-OMIM.58613065\"> </a></td><td>LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613091<a name=\"omim-OMIM.58613091\"> </a></td><td>SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613155<a name=\"omim-OMIM.58613155\"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613156<a name=\"omim-OMIM.58613156\"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613158<a name=\"omim-OMIM.58613158\"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613192<a name=\"omim-OMIM.58613192\"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613205<a name=\"omim-OMIM.58613205\"> </a></td><td>MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613216<a name=\"omim-OMIM.58613216\"> </a></td><td>NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613217<a name=\"omim-OMIM.58613217\"> </a></td><td>DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613402<a name=\"omim-OMIM.58613402\"> </a></td><td>MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613428<a name=\"omim-OMIM.58613428\"> </a></td><td>RETINITIS PIGMENTOSA 54; RP54</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613454<a name=\"omim-OMIM.58613454\"> </a></td><td>RETT SYNDROME, CONGENITAL VARIANT</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613550<a name=\"omim-OMIM.58613550\"> </a></td><td>NEPHRONOPHTHISIS 11; NPHP11</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613561<a name=\"omim-OMIM.58613561\"> </a></td><td>MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613587<a name=\"omim-OMIM.58613587\"> </a></td><td>OCCULT MACULAR DYSTROPHY; OCMD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613612<a name=\"omim-OMIM.58613612\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613660<a name=\"omim-OMIM.58613660\"> </a></td><td>CONE-ROD DYSTROPHY 15; CORD15</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613668<a name=\"omim-OMIM.58613668\"> </a></td><td>MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613680<a name=\"omim-OMIM.58613680\"> </a></td><td>BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613684<a name=\"omim-OMIM.58613684\"> </a></td><td>RUBINSTEIN-TAYBI SYNDROME 2; RSTS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613690<a name=\"omim-OMIM.58613690\"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613706<a name=\"omim-OMIM.58613706\"> </a></td><td>NOONAN SYNDROME 7; NS7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613722<a name=\"omim-OMIM.58613722\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613731<a name=\"omim-OMIM.58613731\"> </a></td><td>RETINITIS PIGMENTOSA 4; RP4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613744<a name=\"omim-OMIM.58613744\"> </a></td><td>SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613750<a name=\"omim-OMIM.58613750\"> </a></td><td>RETINITIS PIGMENTOSA 27; RP27</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613756<a name=\"omim-OMIM.58613756\"> </a></td><td>RETINITIS PIGMENTOSA 49; RP49</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613767<a name=\"omim-OMIM.58613767\"> </a></td><td>RETINITIS PIGMENTOSA 45; RP45</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613794<a name=\"omim-OMIM.58613794\"> </a></td><td>RETINITIS PIGMENTOSA 20; RP20</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613809<a name=\"omim-OMIM.58613809\"> </a></td><td>RETINITIS PIGMENTOSA 39; RP39</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613810<a name=\"omim-OMIM.58613810\"> </a></td><td>RETINITIS PIGMENTOSA 43; RP43</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613811<a name=\"omim-OMIM.58613811\"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613820<a name=\"omim-OMIM.58613820\"> </a></td><td>NEPHRONOPHTHISIS 12; NPHP12</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613835<a name=\"omim-OMIM.58613835\"> </a></td><td>LEBER CONGENITAL AMAUROSIS 8; LCA8</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613861<a name=\"omim-OMIM.58613861\"> </a></td><td>RETINITIS PIGMENTOSA 59; RP59</td></tr><tr><td style=\"white-space:nowrap\">OMIM:613862<a name=\"omim-OMIM.58613862\"> </a></td><td>RETINITIS PIGMENTOSA 38; RP38</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614034<a name=\"omim-OMIM.58614034\"> </a></td><td>HEME OXYGENASE 1 DEFICIENCY; HMOX1D</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614065<a name=\"omim-OMIM.58614065\"> </a></td><td>MYOPATHY, DISTAL, 4; MPD4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614173<a name=\"omim-OMIM.58614173\"> </a></td><td>JOUBERT SYNDROME 13; JBTS13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614180<a name=\"omim-OMIM.58614180\"> </a></td><td>RETINITIS PIGMENTOSA 61; RP61</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614181<a name=\"omim-OMIM.58614181\"> </a></td><td>RETINITIS PIGMENTOSA 62; RP62</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614199<a name=\"omim-OMIM.58614199\"> </a></td><td>NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614202<a name=\"omim-OMIM.58614202\"> </a></td><td>RAFIQ SYNDROME; RAFQS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614225<a name=\"omim-OMIM.58614225\"> </a></td><td>WARBURG MICRO SYNDROME 2; WARBM2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614254<a name=\"omim-OMIM.58614254\"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614255<a name=\"omim-OMIM.58614255\"> </a></td><td>NESCAV SYNDROME; NESCAVS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614299<a name=\"omim-OMIM.58614299\"> </a></td><td>MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614381<a name=\"omim-OMIM.58614381\"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614424<a name=\"omim-OMIM.58614424\"> </a></td><td>JOUBERT SYNDROME 14; JBTS14</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614500<a name=\"omim-OMIM.58614500\"> </a></td><td>CONE-ROD DYSTROPHY 16; CORD16</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614557<a name=\"omim-OMIM.58614557\"> </a></td><td>EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614607<a name=\"omim-OMIM.58614607\"> </a></td><td>COFFIN-SIRIS SYNDROME 2; CSS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614615<a name=\"omim-OMIM.58614615\"> </a></td><td>JOUBERT SYNDROME 17; JBTS17</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614669<a name=\"omim-OMIM.58614669\"> </a></td><td>AURICULOCONDYLAR SYNDROME 2; ARCND2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614678<a name=\"omim-OMIM.58614678\"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614744<a name=\"omim-OMIM.58614744\"> </a></td><td>FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614753<a name=\"omim-OMIM.58614753\"> </a></td><td>SOTOS SYNDROME 2; SOTOS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614831<a name=\"omim-OMIM.58614831\"> </a></td><td>SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614833<a name=\"omim-OMIM.58614833\"> </a></td><td>MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614876<a name=\"omim-OMIM.58614876\"> </a></td><td>PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614877<a name=\"omim-OMIM.58614877\"> </a></td><td>PEROXISOME BIOGENESIS DISORDER 8B; PBD8B</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614932<a name=\"omim-OMIM.58614932\"> </a></td><td>COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614945<a name=\"omim-OMIM.58614945\"> </a></td><td>DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615030<a name=\"omim-OMIM.58615030\"> </a></td><td>SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615031<a name=\"omim-OMIM.58615031\"> </a></td><td>SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615065<a name=\"omim-OMIM.58615065\"> </a></td><td>ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615071<a name=\"omim-OMIM.58615071\"> </a></td><td>ALAZAMI SYNDROME; ALAZS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615095<a name=\"omim-OMIM.58615095\"> </a></td><td>MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615181<a name=\"omim-OMIM.58615181\"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615190<a name=\"omim-OMIM.58615190\"> </a></td><td>DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615191<a name=\"omim-OMIM.58615191\"> </a></td><td>LISSENCEPHALY 5; LIS5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615268<a name=\"omim-OMIM.58615268\"> </a></td><td>CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615286<a name=\"omim-OMIM.58615286\"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615352<a name=\"omim-OMIM.58615352\"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615411<a name=\"omim-OMIM.58615411\"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615412<a name=\"omim-OMIM.58615412\"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615419<a name=\"omim-OMIM.58615419\"> </a></td><td>HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615471<a name=\"omim-OMIM.58615471\"> </a></td><td>MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615476<a name=\"omim-OMIM.58615476\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615485<a name=\"omim-OMIM.58615485\"> </a></td><td>BAINBRIDGE-ROPERS SYNDROME; BRPS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615502<a name=\"omim-OMIM.58615502\"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615546<a name=\"omim-OMIM.58615546\"> </a></td><td>VAN MALDERGEM SYNDROME 2; VMLDS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615574<a name=\"omim-OMIM.58615574\"> </a></td><td>ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615681<a name=\"omim-OMIM.58615681\"> </a></td><td>SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615715<a name=\"omim-OMIM.58615715\"> </a></td><td>BONE MARROW FAILURE SYNDROME 2; BMFS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615716<a name=\"omim-OMIM.58615716\"> </a></td><td>HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615760<a name=\"omim-OMIM.58615760\"> </a></td><td>MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615763<a name=\"omim-OMIM.58615763\"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615809<a name=\"omim-OMIM.58615809\"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615829<a name=\"omim-OMIM.58615829\"> </a></td><td>XIA-GIBBS SYNDROME; XIGIS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615834<a name=\"omim-OMIM.58615834\"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615846<a name=\"omim-OMIM.58615846\"> </a></td><td>AICARDI-GOUTIERES SYNDROME 7; AGS7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615866<a name=\"omim-OMIM.58615866\"> </a></td><td>COFFIN-SIRIS SYNDROME 9; CSS9</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615909<a name=\"omim-OMIM.58615909\"> </a></td><td>DIAMOND-BLACKFAN ANEMIA 13; DBA13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615948<a name=\"omim-OMIM.58615948\"> </a></td><td>OROFACIODIGITAL SYNDROME XIV; OFD14</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615959<a name=\"omim-OMIM.58615959\"> </a></td><td>MYOPATHY, CENTRONUCLEAR, 5; CNM5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615960<a name=\"omim-OMIM.58615960\"> </a></td><td>PORETTI-BOLTSHAUSER SYNDROME; PTBHS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615973<a name=\"omim-OMIM.58615973\"> </a></td><td>CONE-ROD DYSTROPHY 20; CORD20</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615981<a name=\"omim-OMIM.58615981\"> </a></td><td>BARDET-BIEDL SYNDROME 2; BBS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615982<a name=\"omim-OMIM.58615982\"> </a></td><td>BARDET-BIEDL SYNDROME 4; BBS4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615983<a name=\"omim-OMIM.58615983\"> </a></td><td>BARDET-BIEDL SYNDROME 5; BBS5</td></tr><tr><td style=\"white-space:nowrap\">OMIM:615993<a name=\"omim-OMIM.58615993\"> </a></td><td>BARDET-BIEDL SYNDROME 16; BBS16</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616051<a name=\"omim-OMIM.58616051\"> </a></td><td>MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616056<a name=\"omim-OMIM.58616056\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616081<a name=\"omim-OMIM.58616081\"> </a></td><td>PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616094<a name=\"omim-OMIM.58616094\"> </a></td><td>MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616127<a name=\"omim-OMIM.58616127\"> </a></td><td>SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616140<a name=\"omim-OMIM.58616140\"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616155<a name=\"omim-OMIM.58616155\"> </a></td><td>CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616171<a name=\"omim-OMIM.58616171\"> </a></td><td>MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616199<a name=\"omim-OMIM.58616199\"> </a></td><td>POLYGLUCOSAN BODY MYOPATHY 2; PGBM2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616211<a name=\"omim-OMIM.58616211\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616263<a name=\"omim-OMIM.58616263\"> </a></td><td>NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616266<a name=\"omim-OMIM.58616266\"> </a></td><td>CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616271<a name=\"omim-OMIM.58616271\"> </a></td><td>3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616277<a name=\"omim-OMIM.58616277\"> </a></td><td>MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616281<a name=\"omim-OMIM.58616281\"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616321<a name=\"omim-OMIM.58616321\"> </a></td><td>MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616354<a name=\"omim-OMIM.58616354\"> </a></td><td>SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616394<a name=\"omim-OMIM.58616394\"> </a></td><td>RETINITIS PIGMENTOSA 71; RP71</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616420<a name=\"omim-OMIM.58616420\"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616421<a name=\"omim-OMIM.58616421\"> </a></td><td>MYOCLONIC-ATONIC EPILEPSY; MAE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616471<a name=\"omim-OMIM.58616471\"> </a></td><td>BETHLEM MYOPATHY 2; BTHLM2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616490<a name=\"omim-OMIM.58616490\"> </a></td><td>JOUBERT SYNDROME 23; JBTS23</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616531<a name=\"omim-OMIM.58616531\"> </a></td><td>POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616544<a name=\"omim-OMIM.58616544\"> </a></td><td>RETINITIS PIGMENTOSA 73; RP73</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616562<a name=\"omim-OMIM.58616562\"> </a></td><td>RETINITIS PIGMENTOSA 74; RP74</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616564<a name=\"omim-OMIM.58616564\"> </a></td><td>NOONAN SYNDROME 10; NS10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616632<a name=\"omim-OMIM.58616632\"> </a></td><td>SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616647<a name=\"omim-OMIM.58616647\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616649<a name=\"omim-OMIM.58616649\"> </a></td><td>SPHEROCYTOSIS, TYPE 2; SPH2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616651<a name=\"omim-OMIM.58616651\"> </a></td><td>ROIFMAN SYNDROME; RFMN</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616654<a name=\"omim-OMIM.58616654\"> </a></td><td>JOUBERT SYNDROME 24; JBTS24</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616657<a name=\"omim-OMIM.58616657\"> </a></td><td>SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616668<a name=\"omim-OMIM.58616668\"> </a></td><td>CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616683<a name=\"omim-OMIM.58616683\"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616721<a name=\"omim-OMIM.58616721\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616732<a name=\"omim-OMIM.58616732\"> </a></td><td>OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616738<a name=\"omim-OMIM.58616738\"> </a></td><td>RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616740<a name=\"omim-OMIM.58616740\"> </a></td><td>IMMUNODEFICIENCY 46; IMD46</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616789<a name=\"omim-OMIM.58616789\"> </a></td><td>MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616801<a name=\"omim-OMIM.58616801\"> </a></td><td>HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616875<a name=\"omim-OMIM.58616875\"> </a></td><td>CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616892<a name=\"omim-OMIM.58616892\"> </a></td><td>NEPHROTIC SYNDROME, TYPE 12; NPHS12</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616900<a name=\"omim-OMIM.58616900\"> </a></td><td>HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:616973<a name=\"omim-OMIM.58616973\"> </a></td><td>MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617011<a name=\"omim-OMIM.58617011\"> </a></td><td>MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617013<a name=\"omim-OMIM.58617013\"> </a></td><td>HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617047<a name=\"omim-OMIM.58617047\"> </a></td><td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617052<a name=\"omim-OMIM.58617052\"> </a></td><td>BONE MARROW FAILURE SYNDROME 3; BMFS3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617053<a name=\"omim-OMIM.58617053\"> </a></td><td>MIRAGE SYNDROME; MIRAGE</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617093<a name=\"omim-OMIM.58617093\"> </a></td><td>GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617106<a name=\"omim-OMIM.58617106\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617120<a name=\"omim-OMIM.58617120\"> </a></td><td>JOUBERT SYNDROME 27; JBTS27</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617121<a name=\"omim-OMIM.58617121\"> </a></td><td>JOUBERT SYNDROME 28; JBTS28</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617123<a name=\"omim-OMIM.58617123\"> </a></td><td>RETINITIS PIGMENTOSA 76; RP76</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617137<a name=\"omim-OMIM.58617137\"> </a></td><td>FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617146<a name=\"omim-OMIM.58617146\"> </a></td><td>ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617183<a name=\"omim-OMIM.58617183\"> </a></td><td>HAREL-YOON SYNDROME; HAYOS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617193<a name=\"omim-OMIM.58617193\"> </a></td><td>ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617222<a name=\"omim-OMIM.58617222\"> </a></td><td>SUDDEN CARDIAC FAILURE, INFANTILE; SCFI</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617276<a name=\"omim-OMIM.58617276\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617330<a name=\"omim-OMIM.58617330\"> </a></td><td>HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617350<a name=\"omim-OMIM.58617350\"> </a></td><td>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617397<a name=\"omim-OMIM.58617397\"> </a></td><td>PSEUDO-TORCH SYNDROME 2; PTORCH2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617433<a name=\"omim-OMIM.58617433\"> </a></td><td>RETINITIS PIGMENTOSA 78; RP78</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617443<a name=\"omim-OMIM.58617443\"> </a></td><td>BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617460<a name=\"omim-OMIM.58617460\"> </a></td><td>RETINITIS PIGMENTOSA 79; RP79</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617481<a name=\"omim-OMIM.58617481\"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617537<a name=\"omim-OMIM.58617537\"> </a></td><td>RAHMAN SYNDROME; RMNS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617547<a name=\"omim-OMIM.58617547\"> </a></td><td>RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617622<a name=\"omim-OMIM.58617622\"> </a></td><td>JOUBERT SYNDROME 30; JBTS30</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617675<a name=\"omim-OMIM.58617675\"> </a></td><td>MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617681<a name=\"omim-OMIM.58617681\"> </a></td><td>BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617694<a name=\"omim-OMIM.58617694\"> </a></td><td>AL KAISSI SYNDROME; ALKAS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617781<a name=\"omim-OMIM.58617781\"> </a></td><td>RETINITIS PIGMENTOSA 80; RP80</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617805<a name=\"omim-OMIM.58617805\"> </a></td><td>RENAL HYPODYSPLASIA/APLASIA 3; RHDA3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617807<a name=\"omim-OMIM.58617807\"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617829<a name=\"omim-OMIM.58617829\"> </a></td><td>EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617873<a name=\"omim-OMIM.58617873\"> </a></td><td>COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617948<a name=\"omim-OMIM.58617948\"> </a></td><td>ELLIPTOCYTOSIS 3; EL3</td></tr><tr><td style=\"white-space:nowrap\">OMIM:617954<a name=\"omim-OMIM.58617954\"> </a></td><td>MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618056<a name=\"omim-OMIM.58618056\"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618088<a name=\"omim-OMIM.58618088\"> </a></td><td>NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618129<a name=\"omim-OMIM.58618129\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618138<a name=\"omim-OMIM.58618138\"> </a></td><td>MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618174<a name=\"omim-OMIM.58618174\"> </a></td><td>CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618225<a name=\"omim-OMIM.58618225\"> </a></td><td>MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618273<a name=\"omim-OMIM.58618273\"> </a></td><td>MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618316<a name=\"omim-OMIM.58618316\"> </a></td><td>INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618325<a name=\"omim-OMIM.58618325\"> </a></td><td>LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618404<a name=\"omim-OMIM.58618404\"> </a></td><td>LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18</td></tr><tr><td style=\"white-space:nowrap\">OMIM:618512<a name=\"omim-OMIM.58618512\"> </a></td><td>O\\'DONNELL-LURIA-RODAN SYNDROME; ODLURO</td></tr><tr><td style=\"white-space:nowrap\">OMIM:614921<a name=\"omim-OMIM.58614921\"> </a></td><td>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T</td></tr></table></div>"
},
"url" : "https://omim.org/",
"version" : "0.2.0",
"name" : "OMIM",
"title" : "Online Mendelian Inheritance in Man",
"status" : "draft",
"experimental" : false,
"date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
"name" : "NCPI FHIR Working Group",
"telecom" : [
{
"system" : "url",
"value" : "https://github.com/nih-ncpi"
}
]
},
{
"name" : "Meen Chul Kim",
"telecom" : [
{
"system" : "email",
"value" : "meenchul@d3b.center",
"use" : "work"
}
]
}
],
"description" : "An online database that describes the function and phenotypes associated with human genes",
"caseSensitive" : true,
"content" : "fragment",
"count" : 497,
"concept" : [
{
"code" : "OMIM:613801",
"display" : "Retinitis pigmentosa-40"
},
{
"code" : "OMIM:213300",
"display" : "Joubert syndrome 1"
},
{
"code" : "OMIM:615780",
"display" : "Retinitis pigmentosa 69"
},
{
"code" : "OMIM:613826",
"display" : "Leber congenital amaurosis 6"
},
{
"code" : "OMIM:310200",
"display" : "Duchenne muscular dystrophy"
},
{
"code" : "OMIM:617194",
"display" : "Lethal congenital contracture syndrome 11"
},
{
"code" : "OMIM:105400",
"display" : "AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1"
},
{
"code" : "OMIM:108120",
"display" : "ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A"
},
{
"code" : "OMIM:114300",
"display" : "ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3"
},
{
"code" : "OMIM:115195",
"display" : "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2"
},
{
"code" : "OMIM:115196",
"display" : "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3"
},
{
"code" : "OMIM:115197",
"display" : "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4"
},
{
"code" : "OMIM:115200",
"display" : "CARDIOMYOPATHY, DILATED, 1A; CMD1A"
},
{
"code" : "OMIM:117000",
"display" : "CENTRAL CORE DISEASE OF MUSCLE; CCD"
},
{
"code" : "OMIM:117360",
"display" : "SPINOCEREBELLAR ATAXIA 29; SCA29"
},
{
"code" : "OMIM:119530",
"display" : "OROFACIAL CLEFT 1; OFC1"
},
{
"code" : "OMIM:122470",
"display" : "CORNELIA DE LANGE SYNDROME 1; CDLS1"
},
{
"code" : "OMIM:130600",
"display" : "ELLIPTOCYTOSIS 2; EL2"
},
{
"code" : "OMIM:135900",
"display" : "COFFIN-SIRIS SYNDROME 1; CSS1"
},
{
"code" : "OMIM:136140",
"display" : "FLOATING-HARBOR SYNDROME; FLHS"
},
{
"code" : "OMIM:137920",
"display" : "RENAL CYSTS AND DIABETES SYNDROME; RCAD"
},
{
"code" : "OMIM:139090",
"display" : "GRAY PLATELET SYNDROME; GPS"
},
{
"code" : "OMIM:139210",
"display" : "MYHRE SYNDROME; MYHRS"
},
{
"code" : "OMIM:143095",
"display" : "SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD"
},
{
"code" : "OMIM:143465",
"display" : "ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD"
},
{
"code" : "OMIM:147891",
"display" : "ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS"
},
{
"code" : "OMIM:147920",
"display" : "KABUKI SYNDROME 1; KABUK1"
},
{
"code" : "OMIM:148050",
"display" : "KBG SYNDROME; KBGS"
},
{
"code" : "OMIM:149400",
"display" : "HYPEREKPLEXIA 1; HKPX1"
},
{
"code" : "OMIM:152950",
"display" : "MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR"
},
{
"code" : "OMIM:153670",
"display" : "BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2"
},
{
"code" : "OMIM:154400",
"display" : "ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1"
},
{
"code" : "OMIM:154700",
"display" : "MARFAN SYNDROME; MFS"
},
{
"code" : "OMIM:155310",
"display" : "VISCERAL MYOPATHY; VSCM"
},
{
"code" : "OMIM:158590",
"display" : "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A"
},
{
"code" : "OMIM:158810",
"display" : "BETHLEM MYOPATHY 1; BTHLM1"
},
{
"code" : "OMIM:159550",
"display" : "ATAXIA-PANCYTOPENIA SYNDROME; ATXPC"
},
{
"code" : "OMIM:160150",
"display" : "MYOPATHY, CENTRONUCLEAR, 1; CNM1"
},
{
"code" : "OMIM:160500",
"display" : "MYOPATHY, DISTAL, 1; MPD1"
},
{
"code" : "OMIM:160800",
"display" : "MYOTONIA CONGENITA, AUTOSOMAL DOMINANT"
},
{
"code" : "OMIM:160900",
"display" : "MYOTONIC DYSTROPHY 1; DM1"
},
{
"code" : "OMIM:161800",
"display" : "NEMALINE MYOPATHY 3; NEM3"
},
{
"code" : "OMIM:163950",
"display" : "NOONAN SYNDROME 1; NS1"
},
{
"code" : "OMIM:178110",
"display" : "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A"
},
{
"code" : "OMIM:178500",
"display" : "PULMONARY FIBROSIS, IDIOPATHIC; IPF"
},
{
"code" : "OMIM:180100",
"display" : "RETINITIS PIGMENTOSA 1; RP1"
},
{
"code" : "OMIM:180849",
"display" : "RUBINSTEIN-TAYBI SYNDROME 1; RSTS1"
},
{
"code" : "OMIM:181430",
"display" : "SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM"
},
{
"code" : "OMIM:182601",
"display" : "SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4"
},
{
"code" : "OMIM:188000",
"display" : "THROMBOCYTOPENIA 2; THC2"
},
{
"code" : "OMIM:191480",
"display" : "UNCOMBABLE HAIR SYNDROME 1; UHS1"
},
{
"code" : "OMIM:203800",
"display" : "ALSTROM SYNDROME; ALMS"
},
{
"code" : "OMIM:204200",
"display" : "CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3"
},
{
"code" : "OMIM:204500",
"display" : "CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2"
},
{
"code" : "OMIM:205100",
"display" : "AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2"
},
{
"code" : "OMIM:206900",
"display" : "MICROPHTHALMIA, SYNDROMIC 3; MCOPS3"
},
{
"code" : "OMIM:208900",
"display" : "ATAXIA-TELANGIECTASIA; AT"
},
{
"code" : "OMIM:209850",
"display" : "AUTISM"
},
{
"code" : "OMIM:209900",
"display" : "BARDET-BIEDL SYNDROME 1; BBS1"
},
{
"code" : "OMIM:210000",
"display" : "BEHR SYNDROME; BEHRS"
},
{
"code" : "OMIM:210720",
"display" : "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2"
},
{
"code" : "OMIM:210900",
"display" : "BLOOM SYNDROME; BLM"
},
{
"code" : "OMIM:212065",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A"
},
{
"code" : "OMIM:212066",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A"
},
{
"code" : "OMIM:214500",
"display" : "CHEDIAK-HIGASHI SYNDROME; CHS"
},
{
"code" : "OMIM:214800",
"display" : "CHARGE SYNDROME"
},
{
"code" : "OMIM:215500",
"display" : "CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1"
},
{
"code" : "OMIM:216400",
"display" : "COCKAYNE SYNDROME A; CSA"
},
{
"code" : "OMIM:216550",
"display" : "COHEN SYNDROME; COH1"
},
{
"code" : "OMIM:217080",
"display" : "JALILI SYNDROME"
},
{
"code" : "OMIM:217980",
"display" : "CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE"
},
{
"code" : "OMIM:218340",
"display" : "TEMTAMY SYNDROME; TEMTYS"
},
{
"code" : "OMIM:219200",
"display" : "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A"
},
{
"code" : "OMIM:224050",
"display" : "CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1"
},
{
"code" : "OMIM:224690",
"display" : "MEIER-GORLIN SYNDROME 1; MGORS1"
},
{
"code" : "OMIM:225753",
"display" : "PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4"
},
{
"code" : "OMIM:225790",
"display" : "PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH"
},
{
"code" : "OMIM:227650",
"display" : "FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA"
},
{
"code" : "OMIM:229600",
"display" : "FRUCTOSE INTOLERANCE, HEREDITARY; HFI"
},
{
"code" : "OMIM:230000",
"display" : "FUCOSIDOSIS"
},
{
"code" : "OMIM:230500",
"display" : "GM1-GANGLIOSIDOSIS, TYPE I"
},
{
"code" : "OMIM:232300",
"display" : "GLYCOGEN STORAGE DISEASE II; GSD2"
},
{
"code" : "OMIM:232600",
"display" : "GLYCOGEN STORAGE DISEASE V; GSD5"
},
{
"code" : "OMIM:234200",
"display" : "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"
},
{
"code" : "OMIM:234500",
"display" : "HARTNUP DISORDER; HND"
},
{
"code" : "OMIM:236000",
"display" : "LYMPHOMA, HODGKIN, CLASSIC; CHL"
},
{
"code" : "OMIM:236600",
"display" : "HYDROCEPHALUS, CONGENITAL, 1; HYC1"
},
{
"code" : "OMIM:236792",
"display" : "L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA"
},
{
"code" : "OMIM:243310",
"display" : "BARAITSER-WINTER SYNDROME 1; BRWS1"
},
{
"code" : "OMIM:244450",
"display" : "KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS"
},
{
"code" : "OMIM:245200",
"display" : "KRABBE DISEASE"
},
{
"code" : "OMIM:245359",
"display" : "missing"
},
{
"code" : "OMIM:248200",
"display" : "STARGARDT DISEASE 1; STGD1"
},
{
"code" : "OMIM:248700",
"display" : "MARDEN-WALKER SYNDROME; MWKS"
},
{
"code" : "OMIM:249000",
"display" : "MECKEL SYNDROME, TYPE 1; MKS1"
},
{
"code" : "OMIM:249900",
"display" : "METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY"
},
{
"code" : "OMIM:250100",
"display" : "METACHROMATIC LEUKODYSTROPHY; MLD"
},
{
"code" : "OMIM:250620",
"display" : "3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD"
},
{
"code" : "OMIM:251200",
"display" : "MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1"
},
{
"code" : "OMIM:251260",
"display" : "NIJMEGEN BREAKAGE SYNDROME; NBS"
},
{
"code" : "OMIM:251280",
"display" : "DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1"
},
{
"code" : "OMIM:251290",
"display" : "PSEUDO-TORCH SYNDROME 1; PTORCH1"
},
{
"code" : "OMIM:251300",
"display" : "GALLOWAY-MOWAT SYNDROME 1; GAMOS1"
},
{
"code" : "OMIM:252010",
"display" : "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1"
},
{
"code" : "OMIM:252160",
"display" : "MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB"
},
{
"code" : "OMIM:252920",
"display" : "MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B"
},
{
"code" : "OMIM:253250",
"display" : "MULIBREY NANISM"
},
{
"code" : "OMIM:253600",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1"
},
{
"code" : "OMIM:253601",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2"
},
{
"code" : "OMIM:253700",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5"
},
{
"code" : "OMIM:254090",
"display" : "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1"
},
{
"code" : "OMIM:254110",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8"
},
{
"code" : "OMIM:254300",
"display" : "MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10"
},
{
"code" : "OMIM:254780",
"display" : "MYOCLONIC EPILEPSY OF LAFORA"
},
{
"code" : "OMIM:254940",
"display" : "CAREY-FINEMAN-ZITER SYNDROME; CFZS"
},
{
"code" : "OMIM:255310",
"display" : "MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD"
},
{
"code" : "OMIM:255320",
"display" : "MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA"
},
{
"code" : "OMIM:255800",
"display" : "SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1"
},
{
"code" : "OMIM:256000",
"display" : "LEIGH SYNDROME; LS"
},
{
"code" : "OMIM:256300",
"display" : "NEPHROTIC SYNDROME, TYPE 1; NPHS1"
},
{
"code" : "OMIM:256600",
"display" : "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A"
},
{
"code" : "OMIM:256700",
"display" : "NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1"
},
{
"code" : "OMIM:256730",
"display" : "CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1"
},
{
"code" : "OMIM:256731",
"display" : "CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5"
},
{
"code" : "OMIM:256800",
"display" : "INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA"
},
{
"code" : "OMIM:256850",
"display" : "GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1"
},
{
"code" : "OMIM:257220",
"display" : "NIEMANN-PICK DISEASE, TYPE C1; NPC1"
},
{
"code" : "OMIM:257320",
"display" : "LISSENCEPHALY 2; LIS2"
},
{
"code" : "OMIM:260400",
"display" : "SHWACHMAN-DIAMOND SYNDROME 1; SDS1"
},
{
"code" : "OMIM:260565",
"display" : "PEHO SYNDROME; PEHO"
},
{
"code" : "OMIM:261630",
"display" : "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C"
},
{
"code" : "OMIM:262500",
"display" : "LARON SYNDROME"
},
{
"code" : "OMIM:263200",
"display" : "POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4"
},
{
"code" : "OMIM:265000",
"display" : "MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS"
},
{
"code" : "OMIM:266100",
"display" : "EPILEPSY, PYRIDOXINE-DEPENDENT; EPD"
},
{
"code" : "OMIM:266265",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C"
},
{
"code" : "OMIM:266500",
"display" : "REFSUM DISEASE, CLASSIC"
},
{
"code" : "OMIM:266510",
"display" : "PEROXISOME BIOGENESIS DISORDER 3B; PBD3B"
},
{
"code" : "OMIM:268800",
"display" : "SANDHOFF DISEASE"
},
{
"code" : "OMIM:270200",
"display" : "SJOGREN-LARSSON SYNDROME; SLS"
},
{
"code" : "OMIM:270800",
"display" : "SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A"
},
{
"code" : "OMIM:271900",
"display" : "CANAVAN DISEASE"
},
{
"code" : "OMIM:272800",
"display" : "TAY-SACHS DISEASE; TSD"
},
{
"code" : "OMIM:273300",
"display" : "TESTICULAR GERM CELL TUMOR; TGCT"
},
{
"code" : "OMIM:274000",
"display" : "THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR"
},
{
"code" : "OMIM:276901",
"display" : "USHER SYNDROME, TYPE IIA; USH2A"
},
{
"code" : "OMIM:277470",
"display" : "PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A"
},
{
"code" : "OMIM:300029",
"display" : "RETINITIS PIGMENTOSA 3; RP3"
},
{
"code" : "OMIM:300067",
"display" : "LISSENCEPHALY, X-LINKED, 1; LISX1"
},
{
"code" : "OMIM:300088",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9"
},
{
"code" : "OMIM:300100",
"display" : "ADRENOLEUKODYSTROPHY; ALD"
},
{
"code" : "OMIM:300376",
"display" : "MUSCULAR DYSTROPHY, BECKER TYPE; BMD"
},
{
"code" : "OMIM:300387",
"display" : "MENTAL RETARDATION, X-LINKED 63; MRX63"
},
{
"code" : "OMIM:300476",
"display" : "CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3"
},
{
"code" : "OMIM:300486",
"display" : "MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE"
},
{
"code" : "OMIM:300495",
"display" : "AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2"
},
{
"code" : "OMIM:300523",
"display" : "ALLAN-HERNDON-DUDLEY SYNDROME; AHDS"
},
{
"code" : "OMIM:300534",
"display" : "MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ"
},
{
"code" : "OMIM:300695",
"display" : "SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM"
},
{
"code" : "OMIM:300749",
"display" : "MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH"
},
{
"code" : "OMIM:300804",
"display" : "JOUBERT SYNDROME 10; JBTS10"
},
{
"code" : "OMIM:300881",
"display" : "MOVED TO 615777"
},
{
"code" : "OMIM:300882",
"display" : "CORNELIA DE LANGE SYNDROME 5; CDLS5"
},
{
"code" : "OMIM:300894",
"display" : "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5"
},
{
"code" : "OMIM:300908",
"display" : "ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY"
},
{
"code" : "OMIM:300957",
"display" : "MENTAL RETARDATION, X-LINKED 12; MRX12"
},
{
"code" : "OMIM:300958",
"display" : "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB"
},
{
"code" : "OMIM:300966",
"display" : "MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33"
},
{
"code" : "OMIM:300968",
"display" : "MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F"
},
{
"code" : "OMIM:300983",
"display" : "MENTAL RETARDATION, X-LINKED 104; MRX104"
},
{
"code" : "OMIM:300986",
"display" : "MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB"
},
{
"code" : "OMIM:301050",
"display" : "ALPORT SYNDROME 1, X-LINKED; ATS1"
},
{
"code" : "OMIM:301310",
"display" : "ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT"
},
{
"code" : "OMIM:304340",
"display" : "PETTIGREW SYNDROME; PGS"
},
{
"code" : "OMIM:305100",
"display" : "ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED"
},
{
"code" : "OMIM:308350",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1"
},
{
"code" : "OMIM:309500",
"display" : "RENPENNING SYNDROME 1; RENS1"
},
{
"code" : "OMIM:309541",
"display" : "METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE"
},
{
"code" : "OMIM:309580",
"display" : "MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1"
},
{
"code" : "OMIM:310468",
"display" : "NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN"
},
{
"code" : "OMIM:311070",
"display" : "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5"
},
{
"code" : "OMIM:313850",
"display" : "THORACOABDOMINAL SYNDROME; THAS"
},
{
"code" : "OMIM:314580",
"display" : "WIEACKER-WOLFF SYNDROME; WRWF"
},
{
"code" : "OMIM:600059",
"display" : "RETINITIS PIGMENTOSA 13; RP13"
},
{
"code" : "OMIM:600105",
"display" : "RETINITIS PIGMENTOSA 12; RP12"
},
{
"code" : "OMIM:600118",
"display" : "WARBURG MICRO SYNDROME 1; WARBM1"
},
{
"code" : "OMIM:600132",
"display" : "RETINITIS PIGMENTOSA 14; RP14"
},
{
"code" : "OMIM:600138",
"display" : "RETINITIS PIGMENTOSA 11; RP11"
},
{
"code" : "OMIM:600143",
"display" : "CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8"
},
{
"code" : "OMIM:600334",
"display" : "TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD"
},
{
"code" : "OMIM:600373",
"display" : "CODAS SYNDROME"
},
{
"code" : "OMIM:600618",
"display" : "ETS VARIANT GENE 6; ETV6"
},
{
"code" : "OMIM:600995",
"display" : "NEPHROTIC SYNDROME, TYPE 2; NPHS2"
},
{
"code" : "OMIM:601088",
"display" : "AYME-GRIPP SYNDROME; AYGRP"
},
{
"code" : "OMIM:601414",
"display" : "RETINITIS PIGMENTOSA 18; RP18"
},
{
"code" : "OMIM:601419",
"display" : "MYOPATHY, MYOFIBRILLAR, 1; MFM1"
},
{
"code" : "OMIM:601680",
"display" : "ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1"
},
{
"code" : "OMIM:601718",
"display" : "RETINITIS PIGMENTOSA 19; RP19"
},
{
"code" : "OMIM:601780",
"display" : "CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6"
},
{
"code" : "OMIM:601815",
"display" : "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD"
},
{
"code" : "OMIM:601954",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7"
},
{
"code" : "OMIM:602482",
"display" : "AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3"
},
{
"code" : "OMIM:602579",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B"
},
{
"code" : "OMIM:602772",
"display" : "RETINITIS PIGMENTOSA 25; RP25"
},
{
"code" : "OMIM:603511",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1"
},
{
"code" : "OMIM:603896",
"display" : "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM"
},
{
"code" : "OMIM:604004",
"display" : "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1"
},
{
"code" : "OMIM:604116",
"display" : "CONE-ROD DYSTROPHY 3; CORD3"
},
{
"code" : "OMIM:604273",
"display" : "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1"
},
{
"code" : "OMIM:604286",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4"
},
{
"code" : "OMIM:604317",
"display" : "MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2"
},
{
"code" : "OMIM:604360",
"display" : "SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11"
},
{
"code" : "OMIM:604387",
"display" : "NEPHRONOPHTHISIS 3; NPHP3"
},
{
"code" : "OMIM:604537",
"display" : "LEBER CONGENITAL AMAUROSIS 5; LCA5"
},
{
"code" : "OMIM:604592",
"display" : "T CELL IMMUNE REGULATOR 1; TCIRG1"
},
{
"code" : "OMIM:605130",
"display" : "WIEDEMANN-STEINER SYNDROME; WDSTS"
},
{
"code" : "OMIM:605355",
"display" : "NEMALINE MYOPATHY 5; NEM5"
},
{
"code" : "OMIM:605407",
"display" : "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE"
},
{
"code" : "OMIM:605637",
"display" : "MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP"
},
{
"code" : "OMIM:605670",
"display" : "LATE-ONSET RETINAL DEGENERATION; LORD"
},
{
"code" : "OMIM:605820",
"display" : "NONAKA MYOPATHY; NM"
},
{
"code" : "OMIM:605899",
"display" : "GLYCINE ENCEPHALOPATHY; GCE"
},
{
"code" : "OMIM:606068",
"display" : "RETINITIS PIGMENTOSA 28; RP28"
},
{
"code" : "OMIM:606170",
"display" : "GENITOPATELLAR SYNDROME; GTPTS"
},
{
"code" : "OMIM:606232",
"display" : "PHELAN-MCDERMID SYNDROME; PHMDS"
},
{
"code" : "OMIM:606777",
"display" : "GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1"
},
{
"code" : "OMIM:606854",
"display" : "POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP"
},
{
"code" : "OMIM:606966",
"display" : "NEPHRONOPHTHISIS 4; NPHP4"
},
{
"code" : "OMIM:606996",
"display" : "SENIOR-LOKEN SYNDROME 4; SLSN4"
},
{
"code" : "OMIM:607015",
"display" : "HURLER-SCHEIE SYNDROME"
},
{
"code" : "OMIM:607155",
"display" : "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5"
},
{
"code" : "OMIM:607196",
"display" : "MICROCEPHALY, AMISH TYPE; MCPHA"
},
{
"code" : "OMIM:607225",
"display" : "SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP"
},
{
"code" : "OMIM:607426",
"display" : "COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1"
},
{
"code" : "OMIM:607432",
"display" : "LISSENCEPHALY 1; LIS1"
},
{
"code" : "OMIM:607483",
"display" : "THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2"
},
{
"code" : "OMIM:607595",
"display" : "MOVED TO 175780"
},
{
"code" : "OMIM:607596",
"display" : "PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A"
},
{
"code" : "OMIM:607855",
"display" : "MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A"
},
{
"code" : "OMIM:608027",
"display" : "PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3"
},
{
"code" : "OMIM:608091",
"display" : "JOUBERT SYNDROME 2; JBTS2"
},
{
"code" : "OMIM:608099",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3"
},
{
"code" : "OMIM:608133",
"display" : "RETINITIS PIGMENTOSA 7; RP7"
},
{
"code" : "OMIM:608358",
"display" : "MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA"
},
{
"code" : "OMIM:608380",
"display" : "RETINITIS PIGMENTOSA 26; RP26"
},
{
"code" : "OMIM:608393",
"display" : "MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6"
},
{
"code" : "OMIM:608415",
"display" : "PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS"
},
{
"code" : "OMIM:608423",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2"
},
{
"code" : "OMIM:608540",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K"
},
{
"code" : "OMIM:608629",
"display" : "JOUBERT SYNDROME 3; JBTS3"
},
{
"code" : "OMIM:608643",
"display" : "AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY"
},
{
"code" : "OMIM:608716",
"display" : "MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5"
},
{
"code" : "OMIM:608804",
"display" : "LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2"
},
{
"code" : "OMIM:608807",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10"
},
{
"code" : "OMIM:609033",
"display" : "POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1"
},
{
"code" : "OMIM:609056",
"display" : "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS"
},
{
"code" : "OMIM:609195",
"display" : "SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26"
},
{
"code" : "OMIM:609200",
"display" : "MYOPATHY, MYOFIBRILLAR, 3; MFM3"
},
{
"code" : "OMIM:609260",
"display" : "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A"
},
{
"code" : "OMIM:609270",
"display" : "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7"
},
{
"code" : "OMIM:609304",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3"
},
{
"code" : "OMIM:609524",
"display" : "MYOPATHY, MYOFIBRILLAR, 5; MFM5"
},
{
"code" : "OMIM:609560",
"display" : "MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2"
},
{
"code" : "OMIM:609923",
"display" : "RETINITIS PIGMENTOSA 31; RP31"
},
{
"code" : "OMIM:610019",
"display" : "CATARACT 18; CTRCT18"
},
{
"code" : "OMIM:610031",
"display" : "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7"
},
{
"code" : "OMIM:610127",
"display" : "CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10"
},
{
"code" : "OMIM:610181",
"display" : "AICARDI-GOUTIERES SYNDROME 2; AGS2"
},
{
"code" : "OMIM:610188",
"display" : "JOUBERT SYNDROME 5; JBTS5"
},
{
"code" : "OMIM:610217",
"display" : "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B"
},
{
"code" : "OMIM:610329",
"display" : "AICARDI-GOUTIERES SYNDROME 3; AGS3"
},
{
"code" : "OMIM:610333",
"display" : "AICARDI-GOUTIERES SYNDROME 4; AGS4"
},
{
"code" : "OMIM:610359",
"display" : "RETINITIS PIGMENTOSA 33; RP33"
},
{
"code" : "OMIM:610443",
"display" : "KOOLEN-DE VRIES SYNDROME; KDVS"
},
{
"code" : "OMIM:610444",
"display" : "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3"
},
{
"code" : "OMIM:610489",
"display" : "PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1"
},
{
"code" : "OMIM:610532",
"display" : "LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5"
},
{
"code" : "OMIM:610688",
"display" : "JOUBERT SYNDROME 6; JBTS6"
},
{
"code" : "OMIM:610725",
"display" : "NEPHROTIC SYNDROME, TYPE 3; NPHS3"
},
{
"code" : "OMIM:610951",
"display" : "CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7"
},
{
"code" : "OMIM:611091",
"display" : "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5"
},
{
"code" : "OMIM:611302",
"display" : "SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2"
},
{
"code" : "OMIM:611307",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12"
},
{
"code" : "OMIM:611560",
"display" : "JOUBERT SYNDROME 7; JBTS7"
},
{
"code" : "OMIM:611603",
"display" : "LISSENCEPHALY 3; LIS3"
},
{
"code" : "OMIM:611705",
"display" : "SALIH MYOPATHY; SALMY"
},
{
"code" : "OMIM:611721",
"display" : "COMBINED SAPOSIN DEFICIENCY"
},
{
"code" : "OMIM:611726",
"display" : "EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3"
},
{
"code" : "OMIM:611755",
"display" : "LEBER CONGENITAL AMAUROSIS 10; LCA10"
},
{
"code" : "OMIM:612015",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N"
},
{
"code" : "OMIM:612095",
"display" : "RETINITIS PIGMENTOSA 41; RP41"
},
{
"code" : "OMIM:612126",
"display" : "GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2"
},
{
"code" : "OMIM:612285",
"display" : "JOUBERT SYNDROME 9; JBTS9"
},
{
"code" : "OMIM:612337",
"display" : "MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22"
},
{
"code" : "OMIM:612370",
"display" : "HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5"
},
{
"code" : "OMIM:612438",
"display" : "LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6"
},
{
"code" : "OMIM:612528",
"display" : "DIAMOND-BLACKFAN ANEMIA 5; DBA5"
},
{
"code" : "OMIM:612621",
"display" : "MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5"
},
{
"code" : "OMIM:612712",
"display" : "LEBER CONGENITAL AMAUROSIS 13; LCA13"
},
{
"code" : "OMIM:612716",
"display" : "DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY"
},
{
"code" : "OMIM:612780",
"display" : "SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES"
},
{
"code" : "OMIM:612936",
"display" : "SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50"
},
{
"code" : "OMIM:612943",
"display" : "RETINITIS PIGMENTOSA 42; RP42"
},
{
"code" : "OMIM:612951",
"display" : "LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY"
},
{
"code" : "OMIM:613065",
"display" : "LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL"
},
{
"code" : "OMIM:613091",
"display" : "SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3"
},
{
"code" : "OMIM:613155",
"display" : "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1"
},
{
"code" : "OMIM:613156",
"display" : "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2"
},
{
"code" : "OMIM:613158",
"display" : "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2"
},
{
"code" : "OMIM:613192",
"display" : "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13"
},
{
"code" : "OMIM:613205",
"display" : "MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED"
},
{
"code" : "OMIM:613216",
"display" : "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C"
},
{
"code" : "OMIM:613217",
"display" : "DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5"
},
{
"code" : "OMIM:613402",
"display" : "MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ"
},
{
"code" : "OMIM:613428",
"display" : "RETINITIS PIGMENTOSA 54; RP54"
},
{
"code" : "OMIM:613454",
"display" : "RETT SYNDROME, CONGENITAL VARIANT"
},
{
"code" : "OMIM:613550",
"display" : "NEPHRONOPHTHISIS 11; NPHP11"
},
{
"code" : "OMIM:613561",
"display" : "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2"
},
{
"code" : "OMIM:613587",
"display" : "OCCULT MACULAR DYSTROPHY; OCMD"
},
{
"code" : "OMIM:613612",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I"
},
{
"code" : "OMIM:613660",
"display" : "CONE-ROD DYSTROPHY 15; CORD15"
},
{
"code" : "OMIM:613668",
"display" : "MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY"
},
{
"code" : "OMIM:613680",
"display" : "BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS"
},
{
"code" : "OMIM:613684",
"display" : "RUBINSTEIN-TAYBI SYNDROME 2; RSTS2"
},
{
"code" : "OMIM:613690",
"display" : "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7"
},
{
"code" : "OMIM:613706",
"display" : "NOONAN SYNDROME 7; NS7"
},
{
"code" : "OMIM:613722",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12"
},
{
"code" : "OMIM:613731",
"display" : "RETINITIS PIGMENTOSA 4; RP4"
},
{
"code" : "OMIM:613744",
"display" : "SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51"
},
{
"code" : "OMIM:613750",
"display" : "RETINITIS PIGMENTOSA 27; RP27"
},
{
"code" : "OMIM:613756",
"display" : "RETINITIS PIGMENTOSA 49; RP49"
},
{
"code" : "OMIM:613767",
"display" : "RETINITIS PIGMENTOSA 45; RP45"
},
{
"code" : "OMIM:613794",
"display" : "RETINITIS PIGMENTOSA 20; RP20"
},
{
"code" : "OMIM:613809",
"display" : "RETINITIS PIGMENTOSA 39; RP39"
},
{
"code" : "OMIM:613810",
"display" : "RETINITIS PIGMENTOSA 43; RP43"
},
{
"code" : "OMIM:613811",
"display" : "PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D"
},
{
"code" : "OMIM:613820",
"display" : "NEPHRONOPHTHISIS 12; NPHP12"
},
{
"code" : "OMIM:613835",
"display" : "LEBER CONGENITAL AMAUROSIS 8; LCA8"
},
{
"code" : "OMIM:613861",
"display" : "RETINITIS PIGMENTOSA 59; RP59"
},
{
"code" : "OMIM:613862",
"display" : "RETINITIS PIGMENTOSA 38; RP38"
},
{
"code" : "OMIM:614034",
"display" : "HEME OXYGENASE 1 DEFICIENCY; HMOX1D"
},
{
"code" : "OMIM:614065",
"display" : "MYOPATHY, DISTAL, 4; MPD4"
},
{
"code" : "OMIM:614173",
"display" : "JOUBERT SYNDROME 13; JBTS13"
},
{
"code" : "OMIM:614180",
"display" : "RETINITIS PIGMENTOSA 61; RP61"
},
{
"code" : "OMIM:614181",
"display" : "RETINITIS PIGMENTOSA 62; RP62"
},
{
"code" : "OMIM:614199",
"display" : "NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5"
},
{
"code" : "OMIM:614202",
"display" : "RAFIQ SYNDROME; RAFQS"
},
{
"code" : "OMIM:614225",
"display" : "WARBURG MICRO SYNDROME 2; WARBM2"
},
{
"code" : "OMIM:614254",
"display" : "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD"
},
{
"code" : "OMIM:614255",
"display" : "NESCAV SYNDROME; NESCAVS"
},
{
"code" : "OMIM:614299",
"display" : "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2"
},
{
"code" : "OMIM:614381",
"display" : "LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8"
},
{
"code" : "OMIM:614424",
"display" : "JOUBERT SYNDROME 14; JBTS14"
},
{
"code" : "OMIM:614500",
"display" : "CONE-ROD DYSTROPHY 16; CORD16"
},
{
"code" : "OMIM:614557",
"display" : "EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2"
},
{
"code" : "OMIM:614607",
"display" : "COFFIN-SIRIS SYNDROME 2; CSS2"
},
{
"code" : "OMIM:614615",
"display" : "JOUBERT SYNDROME 17; JBTS17"
},
{
"code" : "OMIM:614669",
"display" : "AURICULOCONDYLAR SYNDROME 2; ARCND2"
},
{
"code" : "OMIM:614678",
"display" : "PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B"
},
{
"code" : "OMIM:614744",
"display" : "FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3"
},
{
"code" : "OMIM:614753",
"display" : "SOTOS SYNDROME 2; SOTOS2"
},
{
"code" : "OMIM:614831",
"display" : "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13"
},
{
"code" : "OMIM:614833",
"display" : "MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP"
},
{
"code" : "OMIM:614876",
"display" : "PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A"
},
{
"code" : "OMIM:614877",
"display" : "PEROXISOME BIOGENESIS DISORDER 8B; PBD8B"
},
{
"code" : "OMIM:614932",
"display" : "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13"
},
{
"code" : "OMIM:614945",
"display" : "DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B"
},
{
"code" : "OMIM:615030",
"display" : "SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56"
},
{
"code" : "OMIM:615031",
"display" : "SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49"
},
{
"code" : "OMIM:615065",
"display" : "ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D"
},
{
"code" : "OMIM:615071",
"display" : "ALAZAMI SYNDROME; ALAZS"
},
{
"code" : "OMIM:615095",
"display" : "MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10"
},
{
"code" : "OMIM:615181",
"display" : "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11"
},
{
"code" : "OMIM:615190",
"display" : "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5"
},
{
"code" : "OMIM:615191",
"display" : "LISSENCEPHALY 5; LIS5"
},
{
"code" : "OMIM:615268",
"display" : "CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4"
},
{
"code" : "OMIM:615286",
"display" : "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36"
},
{
"code" : "OMIM:615352",
"display" : "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14"
},
{
"code" : "OMIM:615411",
"display" : "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3"
},
{
"code" : "OMIM:615412",
"display" : "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4"
},
{
"code" : "OMIM:615419",
"display" : "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1"
},
{
"code" : "OMIM:615471",
"display" : "MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13"
},
{
"code" : "OMIM:615476",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18"
},
{
"code" : "OMIM:615485",
"display" : "BAINBRIDGE-ROPERS SYNDROME; BRPS"
},
{
"code" : "OMIM:615502",
"display" : "MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21"
},
{
"code" : "OMIM:615546",
"display" : "VAN MALDERGEM SYNDROME 2; VMLDS2"
},
{
"code" : "OMIM:615574",
"display" : "ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD"
},
{
"code" : "OMIM:615681",
"display" : "SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62"
},
{
"code" : "OMIM:615715",
"display" : "BONE MARROW FAILURE SYNDROME 2; BMFS2"
},
{
"code" : "OMIM:615716",
"display" : "HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4"
},
{
"code" : "OMIM:615760",
"display" : "MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA"
},
{
"code" : "OMIM:615763",
"display" : "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5"
},
{
"code" : "OMIM:615809",
"display" : "PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9"
},
{
"code" : "OMIM:615829",
"display" : "XIA-GIBBS SYNDROME; XIGIS"
},
{
"code" : "OMIM:615834",
"display" : "MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26"
},
{
"code" : "OMIM:615846",
"display" : "AICARDI-GOUTIERES SYNDROME 7; AGS7"
},
{
"code" : "OMIM:615866",
"display" : "COFFIN-SIRIS SYNDROME 9; CSS9"
},
{
"code" : "OMIM:615909",
"display" : "DIAMOND-BLACKFAN ANEMIA 13; DBA13"
},
{
"code" : "OMIM:615948",
"display" : "OROFACIODIGITAL SYNDROME XIV; OFD14"
},
{
"code" : "OMIM:615959",
"display" : "MYOPATHY, CENTRONUCLEAR, 5; CNM5"
},
{
"code" : "OMIM:615960",
"display" : "PORETTI-BOLTSHAUSER SYNDROME; PTBHS"
},
{
"code" : "OMIM:615973",
"display" : "CONE-ROD DYSTROPHY 20; CORD20"
},
{
"code" : "OMIM:615981",
"display" : "BARDET-BIEDL SYNDROME 2; BBS2"
},
{
"code" : "OMIM:615982",
"display" : "BARDET-BIEDL SYNDROME 4; BBS4"
},
{
"code" : "OMIM:615983",
"display" : "BARDET-BIEDL SYNDROME 5; BBS5"
},
{
"code" : "OMIM:615993",
"display" : "BARDET-BIEDL SYNDROME 16; BBS16"
},
{
"code" : "OMIM:616051",
"display" : "MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13"
},
{
"code" : "OMIM:616056",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26"
},
{
"code" : "OMIM:616081",
"display" : "PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C"
},
{
"code" : "OMIM:616094",
"display" : "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12"
},
{
"code" : "OMIM:616127",
"display" : "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17"
},
{
"code" : "OMIM:616140",
"display" : "LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9"
},
{
"code" : "OMIM:616155",
"display" : "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S"
},
{
"code" : "OMIM:616171",
"display" : "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2"
},
{
"code" : "OMIM:616199",
"display" : "POLYGLUCOSAN BODY MYOPATHY 2; PGBM2"
},
{
"code" : "OMIM:616211",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28"
},
{
"code" : "OMIM:616263",
"display" : "NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD"
},
{
"code" : "OMIM:616266",
"display" : "CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD"
},
{
"code" : "OMIM:616271",
"display" : "3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7"
},
{
"code" : "OMIM:616277",
"display" : "MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D"
},
{
"code" : "OMIM:616281",
"display" : "NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM"
},
{
"code" : "OMIM:616321",
"display" : "MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A"
},
{
"code" : "OMIM:616354",
"display" : "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20"
},
{
"code" : "OMIM:616394",
"display" : "RETINITIS PIGMENTOSA 71; RP71"
},
{
"code" : "OMIM:616420",
"display" : "LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10"
},
{
"code" : "OMIM:616421",
"display" : "MYOCLONIC-ATONIC EPILEPSY; MAE"
},
{
"code" : "OMIM:616471",
"display" : "BETHLEM MYOPATHY 2; BTHLM2"
},
{
"code" : "OMIM:616490",
"display" : "JOUBERT SYNDROME 23; JBTS23"
},
{
"code" : "OMIM:616531",
"display" : "POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA"
},
{
"code" : "OMIM:616544",
"display" : "RETINITIS PIGMENTOSA 73; RP73"
},
{
"code" : "OMIM:616562",
"display" : "RETINITIS PIGMENTOSA 74; RP74"
},
{
"code" : "OMIM:616564",
"display" : "NOONAN SYNDROME 10; NS10"
},
{
"code" : "OMIM:616632",
"display" : "SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS"
},
{
"code" : "OMIM:616647",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35"
},
{
"code" : "OMIM:616649",
"display" : "SPHEROCYTOSIS, TYPE 2; SPH2"
},
{
"code" : "OMIM:616651",
"display" : "ROIFMAN SYNDROME; RFMN"
},
{
"code" : "OMIM:616654",
"display" : "JOUBERT SYNDROME 24; JBTS24"
},
{
"code" : "OMIM:616657",
"display" : "SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM"
},
{
"code" : "OMIM:616668",
"display" : "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X"
},
{
"code" : "OMIM:616683",
"display" : "LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12"
},
{
"code" : "OMIM:616721",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N"
},
{
"code" : "OMIM:616732",
"display" : "OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10"
},
{
"code" : "OMIM:616738",
"display" : "RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2"
},
{
"code" : "OMIM:616740",
"display" : "IMMUNODEFICIENCY 46; IMD46"
},
{
"code" : "OMIM:616789",
"display" : "MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD"
},
{
"code" : "OMIM:616801",
"display" : "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2"
},
{
"code" : "OMIM:616875",
"display" : "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR"
},
{
"code" : "OMIM:616892",
"display" : "NEPHROTIC SYNDROME, TYPE 12; NPHS12"
},
{
"code" : "OMIM:616900",
"display" : "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3"
},
{
"code" : "OMIM:616973",
"display" : "MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42"
},
{
"code" : "OMIM:617011",
"display" : "MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR"
},
{
"code" : "OMIM:617013",
"display" : "HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2"
},
{
"code" : "OMIM:617047",
"display" : "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26"
},
{
"code" : "OMIM:617052",
"display" : "BONE MARROW FAILURE SYNDROME 3; BMFS3"
},
{
"code" : "OMIM:617053",
"display" : "MIRAGE SYNDROME; MIRAGE"
},
{
"code" : "OMIM:617093",
"display" : "GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH"
},
{
"code" : "OMIM:617106",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42"
},
{
"code" : "OMIM:617120",
"display" : "JOUBERT SYNDROME 27; JBTS27"
},
{
"code" : "OMIM:617121",
"display" : "JOUBERT SYNDROME 28; JBTS28"
},
{
"code" : "OMIM:617123",
"display" : "RETINITIS PIGMENTOSA 76; RP76"
},
{
"code" : "OMIM:617137",
"display" : "FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2"
},
{
"code" : "OMIM:617146",
"display" : "ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT"
},
{
"code" : "OMIM:617183",
"display" : "HAREL-YOON SYNDROME; HAYOS"
},
{
"code" : "OMIM:617193",
"display" : "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT"
},
{
"code" : "OMIM:617222",
"display" : "SUDDEN CARDIAC FAILURE, INFANTILE; SCFI"
},
{
"code" : "OMIM:617276",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48"
},
{
"code" : "OMIM:617330",
"display" : "HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS"
},
{
"code" : "OMIM:617350",
"display" : "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52"
},
{
"code" : "OMIM:617397",
"display" : "PSEUDO-TORCH SYNDROME 2; PTORCH2"
},
{
"code" : "OMIM:617433",
"display" : "RETINITIS PIGMENTOSA 78; RP78"
},
{
"code" : "OMIM:617443",
"display" : "BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21"
},
{
"code" : "OMIM:617460",
"display" : "RETINITIS PIGMENTOSA 79; RP79"
},
{
"code" : "OMIM:617481",
"display" : "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA"
},
{
"code" : "OMIM:617537",
"display" : "RAHMAN SYNDROME; RMNS"
},
{
"code" : "OMIM:617547",
"display" : "RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS"
},
{
"code" : "OMIM:617622",
"display" : "JOUBERT SYNDROME 30; JBTS30"
},
{
"code" : "OMIM:617675",
"display" : "MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT"
},
{
"code" : "OMIM:617681",
"display" : "BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2"
},
{
"code" : "OMIM:617694",
"display" : "AL KAISSI SYNDROME; ALKAS"
},
{
"code" : "OMIM:617781",
"display" : "RETINITIS PIGMENTOSA 80; RP80"
},
{
"code" : "OMIM:617805",
"display" : "RENAL HYPODYSPLASIA/APLASIA 3; RHDA3"
},
{
"code" : "OMIM:617807",
"display" : "NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW"
},
{
"code" : "OMIM:617829",
"display" : "EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2"
},
{
"code" : "OMIM:617873",
"display" : "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35"
},
{
"code" : "OMIM:617948",
"display" : "ELLIPTOCYTOSIS 3; EL3"
},
{
"code" : "OMIM:617954",
"display" : "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6"
},
{
"code" : "OMIM:618056",
"display" : "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS"
},
{
"code" : "OMIM:618088",
"display" : "NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS"
},
{
"code" : "OMIM:618129",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4"
},
{
"code" : "OMIM:618138",
"display" : "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23"
},
{
"code" : "OMIM:618174",
"display" : "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9"
},
{
"code" : "OMIM:618225",
"display" : "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4"
},
{
"code" : "OMIM:618273",
"display" : "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM"
},
{
"code" : "OMIM:618316",
"display" : "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF"
},
{
"code" : "OMIM:618325",
"display" : "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9"
},
{
"code" : "OMIM:618404",
"display" : "LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18"
},
{
"code" : "OMIM:618512",
"display" : "O\\'DONNELL-LURIA-RODAN SYNDROME; ODLURO"
},
{
"code" : "OMIM:614921",
"display" : "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T"
}
]
}
IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
QA Report