NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions

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: Online Mendelian Inheritance in Man - TTL Representation

Draft as of 2022-12-09

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:CodeSystem;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "omim"]; # 
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.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>"
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     fhir:index 42;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:163950" ];
     fhir:CodeSystem.concept.display [ fhir:value "NOONAN SYNDROME 1; NS1" ]
  ], [
     fhir:index 43;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:178110" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A" ]
  ], [
     fhir:index 44;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:178500" ];
     fhir:CodeSystem.concept.display [ fhir:value "PULMONARY FIBROSIS, IDIOPATHIC; IPF" ]
  ], [
     fhir:index 45;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:180100" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 1; RP1" ]
  ], [
     fhir:index 46;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:180849" ];
     fhir:CodeSystem.concept.display [ fhir:value "RUBINSTEIN-TAYBI SYNDROME 1; RSTS1" ]
  ], [
     fhir:index 47;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:181430" ];
     fhir:CodeSystem.concept.display [ fhir:value "SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM" ]
  ], [
     fhir:index 48;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:182601" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4" ]
  ], [
     fhir:index 49;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:188000" ];
     fhir:CodeSystem.concept.display [ fhir:value "THROMBOCYTOPENIA 2; THC2" ]
  ], [
     fhir:index 50;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:191480" ];
     fhir:CodeSystem.concept.display [ fhir:value "UNCOMBABLE HAIR SYNDROME 1; UHS1" ]
  ], [
     fhir:index 51;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:203800" ];
     fhir:CodeSystem.concept.display [ fhir:value "ALSTROM SYNDROME; ALMS" ]
  ], [
     fhir:index 52;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:204200" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3" ]
  ], [
     fhir:index 53;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:204500" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2" ]
  ], [
     fhir:index 54;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:205100" ];
     fhir:CodeSystem.concept.display [ fhir:value "AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2" ]
  ], [
     fhir:index 55;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:206900" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROPHTHALMIA, SYNDROMIC 3; MCOPS3" ]
  ], [
     fhir:index 56;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:208900" ];
     fhir:CodeSystem.concept.display [ fhir:value "ATAXIA-TELANGIECTASIA; AT" ]
  ], [
     fhir:index 57;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:209850" ];
     fhir:CodeSystem.concept.display [ fhir:value "AUTISM" ]
  ], [
     fhir:index 58;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:209900" ];
     fhir:CodeSystem.concept.display [ fhir:value "BARDET-BIEDL SYNDROME 1; BBS1" ]
  ], [
     fhir:index 59;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:210000" ];
     fhir:CodeSystem.concept.display [ fhir:value "BEHR SYNDROME; BEHRS" ]
  ], [
     fhir:index 60;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:210720" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2" ]
  ], [
     fhir:index 61;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:210900" ];
     fhir:CodeSystem.concept.display [ fhir:value "BLOOM SYNDROME; BLM" ]
  ], [
     fhir:index 62;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:212065" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A" ]
  ], [
     fhir:index 63;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:212066" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A" ]
  ], [
     fhir:index 64;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:214500" ];
     fhir:CodeSystem.concept.display [ fhir:value "CHEDIAK-HIGASHI SYNDROME; CHS" ]
  ], [
     fhir:index 65;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:214800" ];
     fhir:CodeSystem.concept.display [ fhir:value "CHARGE SYNDROME" ]
  ], [
     fhir:index 66;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:215500" ];
     fhir:CodeSystem.concept.display [ fhir:value "CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1" ]
  ], [
     fhir:index 67;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:216400" ];
     fhir:CodeSystem.concept.display [ fhir:value "COCKAYNE SYNDROME A; CSA" ]
  ], [
     fhir:index 68;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:216550" ];
     fhir:CodeSystem.concept.display [ fhir:value "COHEN SYNDROME; COH1" ]
  ], [
     fhir:index 69;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:217080" ];
     fhir:CodeSystem.concept.display [ fhir:value "JALILI SYNDROME" ]
  ], [
     fhir:index 70;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:217980" ];
     fhir:CodeSystem.concept.display [ fhir:value "CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE" ]
  ], [
     fhir:index 71;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:218340" ];
     fhir:CodeSystem.concept.display [ fhir:value "TEMTAMY SYNDROME; TEMTYS" ]
  ], [
     fhir:index 72;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:219200" ];
     fhir:CodeSystem.concept.display [ fhir:value "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A" ]
  ], [
     fhir:index 73;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:224050" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1" ]
  ], [
     fhir:index 74;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:224690" ];
     fhir:CodeSystem.concept.display [ fhir:value "MEIER-GORLIN SYNDROME 1; MGORS1" ]
  ], [
     fhir:index 75;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:225753" ];
     fhir:CodeSystem.concept.display [ fhir:value "PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4" ]
  ], [
     fhir:index 76;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:225790" ];
     fhir:CodeSystem.concept.display [ fhir:value "PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH" ]
  ], [
     fhir:index 77;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:227650" ];
     fhir:CodeSystem.concept.display [ fhir:value "FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA" ]
  ], [
     fhir:index 78;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:229600" ];
     fhir:CodeSystem.concept.display [ fhir:value "FRUCTOSE INTOLERANCE, HEREDITARY; HFI" ]
  ], [
     fhir:index 79;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:230000" ];
     fhir:CodeSystem.concept.display [ fhir:value "FUCOSIDOSIS" ]
  ], [
     fhir:index 80;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:230500" ];
     fhir:CodeSystem.concept.display [ fhir:value "GM1-GANGLIOSIDOSIS, TYPE I" ]
  ], [
     fhir:index 81;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:232300" ];
     fhir:CodeSystem.concept.display [ fhir:value "GLYCOGEN STORAGE DISEASE II; GSD2" ]
  ], [
     fhir:index 82;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:232600" ];
     fhir:CodeSystem.concept.display [ fhir:value "GLYCOGEN STORAGE DISEASE V; GSD5" ]
  ], [
     fhir:index 83;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:234200" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1" ]
  ], [
     fhir:index 84;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:234500" ];
     fhir:CodeSystem.concept.display [ fhir:value "HARTNUP DISORDER; HND" ]
  ], [
     fhir:index 85;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:236000" ];
     fhir:CodeSystem.concept.display [ fhir:value "LYMPHOMA, HODGKIN, CLASSIC; CHL" ]
  ], [
     fhir:index 86;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:236600" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYDROCEPHALUS, CONGENITAL, 1; HYC1" ]
  ], [
     fhir:index 87;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:236792" ];
     fhir:CodeSystem.concept.display [ fhir:value "L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA" ]
  ], [
     fhir:index 88;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:243310" ];
     fhir:CodeSystem.concept.display [ fhir:value "BARAITSER-WINTER SYNDROME 1; BRWS1" ]
  ], [
     fhir:index 89;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:244450" ];
     fhir:CodeSystem.concept.display [ fhir:value "KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS" ]
  ], [
     fhir:index 90;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:245200" ];
     fhir:CodeSystem.concept.display [ fhir:value "KRABBE DISEASE" ]
  ], [
     fhir:index 91;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:245359" ];
     fhir:CodeSystem.concept.display [ fhir:value "missing" ]
  ], [
     fhir:index 92;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:248200" ];
     fhir:CodeSystem.concept.display [ fhir:value "STARGARDT DISEASE 1; STGD1" ]
  ], [
     fhir:index 93;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:248700" ];
     fhir:CodeSystem.concept.display [ fhir:value "MARDEN-WALKER SYNDROME; MWKS" ]
  ], [
     fhir:index 94;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:249000" ];
     fhir:CodeSystem.concept.display [ fhir:value "MECKEL SYNDROME, TYPE 1; MKS1" ]
  ], [
     fhir:index 95;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:249900" ];
     fhir:CodeSystem.concept.display [ fhir:value "METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY" ]
  ], [
     fhir:index 96;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:250100" ];
     fhir:CodeSystem.concept.display [ fhir:value "METACHROMATIC LEUKODYSTROPHY; MLD" ]
  ], [
     fhir:index 97;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:250620" ];
     fhir:CodeSystem.concept.display [ fhir:value "3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD" ]
  ], [
     fhir:index 98;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:251200" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1" ]
  ], [
     fhir:index 99;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:251260" ];
     fhir:CodeSystem.concept.display [ fhir:value "NIJMEGEN BREAKAGE SYNDROME; NBS" ]
  ], [
     fhir:index 100;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:251280" ];
     fhir:CodeSystem.concept.display [ fhir:value "DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1" ]
  ], [
     fhir:index 101;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:251290" ];
     fhir:CodeSystem.concept.display [ fhir:value "PSEUDO-TORCH SYNDROME 1; PTORCH1" ]
  ], [
     fhir:index 102;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:251300" ];
     fhir:CodeSystem.concept.display [ fhir:value "GALLOWAY-MOWAT SYNDROME 1; GAMOS1" ]
  ], [
     fhir:index 103;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:252010" ];
     fhir:CodeSystem.concept.display [ fhir:value "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1" ]
  ], [
     fhir:index 104;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:252160" ];
     fhir:CodeSystem.concept.display [ fhir:value "MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB" ]
  ], [
     fhir:index 105;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:252920" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B" ]
  ], [
     fhir:index 106;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:253250" ];
     fhir:CodeSystem.concept.display [ fhir:value "MULIBREY NANISM" ]
  ], [
     fhir:index 107;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:253600" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1" ]
  ], [
     fhir:index 108;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:253601" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2" ]
  ], [
     fhir:index 109;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:253700" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5" ]
  ], [
     fhir:index 110;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:254090" ];
     fhir:CodeSystem.concept.display [ fhir:value "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1" ]
  ], [
     fhir:index 111;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:254110" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8" ]
  ], [
     fhir:index 112;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:254300" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10" ]
  ], [
     fhir:index 113;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:254780" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOCLONIC EPILEPSY OF LAFORA" ]
  ], [
     fhir:index 114;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:254940" ];
     fhir:CodeSystem.concept.display [ fhir:value "CAREY-FINEMAN-ZITER SYNDROME; CFZS" ]
  ], [
     fhir:index 115;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:255310" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD" ]
  ], [
     fhir:index 116;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:255320" ];
     fhir:CodeSystem.concept.display [ fhir:value "MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA" ]
  ], [
     fhir:index 117;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:255800" ];
     fhir:CodeSystem.concept.display [ fhir:value "SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1" ]
  ], [
     fhir:index 118;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:256000" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEIGH SYNDROME; LS" ]
  ], [
     fhir:index 119;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:256300" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHROTIC SYNDROME, TYPE 1; NPHS1" ]
  ], [
     fhir:index 120;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:256600" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A" ]
  ], [
     fhir:index 121;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:256700" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1" ]
  ], [
     fhir:index 122;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:256730" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1" ]
  ], [
     fhir:index 123;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:256731" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5" ]
  ], [
     fhir:index 124;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:256800" ];
     fhir:CodeSystem.concept.display [ fhir:value "INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA" ]
  ], [
     fhir:index 125;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:256850" ];
     fhir:CodeSystem.concept.display [ fhir:value "GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1" ]
  ], [
     fhir:index 126;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:257220" ];
     fhir:CodeSystem.concept.display [ fhir:value "NIEMANN-PICK DISEASE, TYPE C1; NPC1" ]
  ], [
     fhir:index 127;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:257320" ];
     fhir:CodeSystem.concept.display [ fhir:value "LISSENCEPHALY 2; LIS2" ]
  ], [
     fhir:index 128;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:260400" ];
     fhir:CodeSystem.concept.display [ fhir:value "SHWACHMAN-DIAMOND SYNDROME 1; SDS1" ]
  ], [
     fhir:index 129;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:260565" ];
     fhir:CodeSystem.concept.display [ fhir:value "PEHO SYNDROME; PEHO" ]
  ], [
     fhir:index 130;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:261630" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C" ]
  ], [
     fhir:index 131;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:262500" ];
     fhir:CodeSystem.concept.display [ fhir:value "LARON SYNDROME" ]
  ], [
     fhir:index 132;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:263200" ];
     fhir:CodeSystem.concept.display [ fhir:value "POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4" ]
  ], [
     fhir:index 133;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:265000" ];
     fhir:CodeSystem.concept.display [ fhir:value "MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS" ]
  ], [
     fhir:index 134;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:266100" ];
     fhir:CodeSystem.concept.display [ fhir:value "EPILEPSY, PYRIDOXINE-DEPENDENT; EPD" ]
  ], [
     fhir:index 135;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:266265" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C" ]
  ], [
     fhir:index 136;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:266500" ];
     fhir:CodeSystem.concept.display [ fhir:value "REFSUM DISEASE, CLASSIC" ]
  ], [
     fhir:index 137;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:266510" ];
     fhir:CodeSystem.concept.display [ fhir:value "PEROXISOME BIOGENESIS DISORDER 3B; PBD3B" ]
  ], [
     fhir:index 138;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:268800" ];
     fhir:CodeSystem.concept.display [ fhir:value "SANDHOFF DISEASE" ]
  ], [
     fhir:index 139;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:270200" ];
     fhir:CodeSystem.concept.display [ fhir:value "SJOGREN-LARSSON SYNDROME; SLS" ]
  ], [
     fhir:index 140;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:270800" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A" ]
  ], [
     fhir:index 141;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:271900" ];
     fhir:CodeSystem.concept.display [ fhir:value "CANAVAN DISEASE" ]
  ], [
     fhir:index 142;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:272800" ];
     fhir:CodeSystem.concept.display [ fhir:value "TAY-SACHS DISEASE; TSD" ]
  ], [
     fhir:index 143;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:273300" ];
     fhir:CodeSystem.concept.display [ fhir:value "TESTICULAR GERM CELL TUMOR; TGCT" ]
  ], [
     fhir:index 144;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:274000" ];
     fhir:CodeSystem.concept.display [ fhir:value "THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR" ]
  ], [
     fhir:index 145;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:276901" ];
     fhir:CodeSystem.concept.display [ fhir:value "USHER SYNDROME, TYPE IIA; USH2A" ]
  ], [
     fhir:index 146;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:277470" ];
     fhir:CodeSystem.concept.display [ fhir:value "PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A" ]
  ], [
     fhir:index 147;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300029" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 3; RP3" ]
  ], [
     fhir:index 148;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300067" ];
     fhir:CodeSystem.concept.display [ fhir:value "LISSENCEPHALY, X-LINKED, 1; LISX1" ]
  ], [
     fhir:index 149;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300088" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9" ]
  ], [
     fhir:index 150;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300100" ];
     fhir:CodeSystem.concept.display [ fhir:value "ADRENOLEUKODYSTROPHY; ALD" ]
  ], [
     fhir:index 151;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300376" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, BECKER TYPE; BMD" ]
  ], [
     fhir:index 152;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300387" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, X-LINKED 63; MRX63" ]
  ], [
     fhir:index 153;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300476" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3" ]
  ], [
     fhir:index 154;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300486" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE" ]
  ], [
     fhir:index 155;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300495" ];
     fhir:CodeSystem.concept.display [ fhir:value "AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2" ]
  ], [
     fhir:index 156;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300523" ];
     fhir:CodeSystem.concept.display [ fhir:value "ALLAN-HERNDON-DUDLEY SYNDROME; AHDS" ]
  ], [
     fhir:index 157;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300534" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ" ]
  ], [
     fhir:index 158;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300695" ];
     fhir:CodeSystem.concept.display [ fhir:value "SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM" ]
  ], [
     fhir:index 159;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300749" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH" ]
  ], [
     fhir:index 160;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300804" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 10; JBTS10" ]
  ], [
     fhir:index 161;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300881" ];
     fhir:CodeSystem.concept.display [ fhir:value "MOVED TO 615777" ]
  ], [
     fhir:index 162;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300882" ];
     fhir:CodeSystem.concept.display [ fhir:value "CORNELIA DE LANGE SYNDROME 5; CDLS5" ]
  ], [
     fhir:index 163;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300894" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5" ]
  ], [
     fhir:index 164;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300908" ];
     fhir:CodeSystem.concept.display [ fhir:value "ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY" ]
  ], [
     fhir:index 165;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300957" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, X-LINKED 12; MRX12" ]
  ], [
     fhir:index 166;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300958" ];
     fhir:CodeSystem.concept.display [ fhir:value "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB" ]
  ], [
     fhir:index 167;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300966" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33" ]
  ], [
     fhir:index 168;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300968" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F" ]
  ], [
     fhir:index 169;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300983" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, X-LINKED 104; MRX104" ]
  ], [
     fhir:index 170;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:300986" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB" ]
  ], [
     fhir:index 171;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:301050" ];
     fhir:CodeSystem.concept.display [ fhir:value "ALPORT SYNDROME 1, X-LINKED; ATS1" ]
  ], [
     fhir:index 172;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:301310" ];
     fhir:CodeSystem.concept.display [ fhir:value "ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT" ]
  ], [
     fhir:index 173;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:304340" ];
     fhir:CodeSystem.concept.display [ fhir:value "PETTIGREW SYNDROME; PGS" ]
  ], [
     fhir:index 174;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:305100" ];
     fhir:CodeSystem.concept.display [ fhir:value "ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED" ]
  ], [
     fhir:index 175;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:308350" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1" ]
  ], [
     fhir:index 176;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:309500" ];
     fhir:CodeSystem.concept.display [ fhir:value "RENPENNING SYNDROME 1; RENS1" ]
  ], [
     fhir:index 177;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:309541" ];
     fhir:CodeSystem.concept.display [ fhir:value "METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE" ]
  ], [
     fhir:index 178;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:309580" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1" ]
  ], [
     fhir:index 179;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:310468" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN" ]
  ], [
     fhir:index 180;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:311070" ];
     fhir:CodeSystem.concept.display [ fhir:value "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5" ]
  ], [
     fhir:index 181;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:313850" ];
     fhir:CodeSystem.concept.display [ fhir:value "THORACOABDOMINAL SYNDROME; THAS" ]
  ], [
     fhir:index 182;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:314580" ];
     fhir:CodeSystem.concept.display [ fhir:value "WIEACKER-WOLFF SYNDROME; WRWF" ]
  ], [
     fhir:index 183;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600059" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 13; RP13" ]
  ], [
     fhir:index 184;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600105" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 12; RP12" ]
  ], [
     fhir:index 185;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600118" ];
     fhir:CodeSystem.concept.display [ fhir:value "WARBURG MICRO SYNDROME 1; WARBM1" ]
  ], [
     fhir:index 186;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600132" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 14; RP14" ]
  ], [
     fhir:index 187;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600138" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 11; RP11" ]
  ], [
     fhir:index 188;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600143" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8" ]
  ], [
     fhir:index 189;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600334" ];
     fhir:CodeSystem.concept.display [ fhir:value "TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD" ]
  ], [
     fhir:index 190;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600373" ];
     fhir:CodeSystem.concept.display [ fhir:value "CODAS SYNDROME" ]
  ], [
     fhir:index 191;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600618" ];
     fhir:CodeSystem.concept.display [ fhir:value "ETS VARIANT GENE 6; ETV6" ]
  ], [
     fhir:index 192;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:600995" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHROTIC SYNDROME, TYPE 2; NPHS2" ]
  ], [
     fhir:index 193;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:601088" ];
     fhir:CodeSystem.concept.display [ fhir:value "AYME-GRIPP SYNDROME; AYGRP" ]
  ], [
     fhir:index 194;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:601414" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 18; RP18" ]
  ], [
     fhir:index 195;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:601419" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, MYOFIBRILLAR, 1; MFM1" ]
  ], [
     fhir:index 196;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:601680" ];
     fhir:CodeSystem.concept.display [ fhir:value "ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1" ]
  ], [
     fhir:index 197;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:601718" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 19; RP19" ]
  ], [
     fhir:index 198;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:601780" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6" ]
  ], [
     fhir:index 199;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:601815" ];
     fhir:CodeSystem.concept.display [ fhir:value "PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD" ]
  ], [
     fhir:index 200;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:601954" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7" ]
  ], [
     fhir:index 201;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:602482" ];
     fhir:CodeSystem.concept.display [ fhir:value "AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3" ]
  ], [
     fhir:index 202;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:602579" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B" ]
  ], [
     fhir:index 203;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:602772" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 25; RP25" ]
  ], [
     fhir:index 204;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:603511" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1" ]
  ], [
     fhir:index 205;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:603896" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM" ]
  ], [
     fhir:index 206;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604004" ];
     fhir:CodeSystem.concept.display [ fhir:value "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1" ]
  ], [
     fhir:index 207;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604116" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONE-ROD DYSTROPHY 3; CORD3" ]
  ], [
     fhir:index 208;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604273" ];
     fhir:CodeSystem.concept.display [ fhir:value "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1" ]
  ], [
     fhir:index 209;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604286" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4" ]
  ], [
     fhir:index 210;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604317" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2" ]
  ], [
     fhir:index 211;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604360" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11" ]
  ], [
     fhir:index 212;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604387" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHRONOPHTHISIS 3; NPHP3" ]
  ], [
     fhir:index 213;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604537" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEBER CONGENITAL AMAUROSIS 5; LCA5" ]
  ], [
     fhir:index 214;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:604592" ];
     fhir:CodeSystem.concept.display [ fhir:value "T CELL IMMUNE REGULATOR 1; TCIRG1" ]
  ], [
     fhir:index 215;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:605130" ];
     fhir:CodeSystem.concept.display [ fhir:value "WIEDEMANN-STEINER SYNDROME; WDSTS" ]
  ], [
     fhir:index 216;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:605355" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEMALINE MYOPATHY 5; NEM5" ]
  ], [
     fhir:index 217;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:605407" ];
     fhir:CodeSystem.concept.display [ fhir:value "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE" ]
  ], [
     fhir:index 218;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:605637" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP" ]
  ], [
     fhir:index 219;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:605670" ];
     fhir:CodeSystem.concept.display [ fhir:value "LATE-ONSET RETINAL DEGENERATION; LORD" ]
  ], [
     fhir:index 220;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:605820" ];
     fhir:CodeSystem.concept.display [ fhir:value "NONAKA MYOPATHY; NM" ]
  ], [
     fhir:index 221;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:605899" ];
     fhir:CodeSystem.concept.display [ fhir:value "GLYCINE ENCEPHALOPATHY; GCE" ]
  ], [
     fhir:index 222;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:606068" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 28; RP28" ]
  ], [
     fhir:index 223;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:606170" ];
     fhir:CodeSystem.concept.display [ fhir:value "GENITOPATELLAR SYNDROME; GTPTS" ]
  ], [
     fhir:index 224;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:606232" ];
     fhir:CodeSystem.concept.display [ fhir:value "PHELAN-MCDERMID SYNDROME; PHMDS" ]
  ], [
     fhir:index 225;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:606777" ];
     fhir:CodeSystem.concept.display [ fhir:value "GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1" ]
  ], [
     fhir:index 226;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:606854" ];
     fhir:CodeSystem.concept.display [ fhir:value "POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP" ]
  ], [
     fhir:index 227;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:606966" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHRONOPHTHISIS 4; NPHP4" ]
  ], [
     fhir:index 228;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:606996" ];
     fhir:CodeSystem.concept.display [ fhir:value "SENIOR-LOKEN SYNDROME 4; SLSN4" ]
  ], [
     fhir:index 229;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607015" ];
     fhir:CodeSystem.concept.display [ fhir:value "HURLER-SCHEIE SYNDROME" ]
  ], [
     fhir:index 230;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607155" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5" ]
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     fhir:index 231;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607196" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY, AMISH TYPE; MCPHA" ]
  ], [
     fhir:index 232;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607225" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP" ]
  ], [
     fhir:index 233;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607426" ];
     fhir:CodeSystem.concept.display [ fhir:value "COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1" ]
  ], [
     fhir:index 234;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607432" ];
     fhir:CodeSystem.concept.display [ fhir:value "LISSENCEPHALY 1; LIS1" ]
  ], [
     fhir:index 235;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607483" ];
     fhir:CodeSystem.concept.display [ fhir:value "THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2" ]
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     fhir:index 236;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607595" ];
     fhir:CodeSystem.concept.display [ fhir:value "MOVED TO 175780" ]
  ], [
     fhir:index 237;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607596" ];
     fhir:CodeSystem.concept.display [ fhir:value "PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A" ]
  ], [
     fhir:index 238;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:607855" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A" ]
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     fhir:index 239;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608027" ];
     fhir:CodeSystem.concept.display [ fhir:value "PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3" ]
  ], [
     fhir:index 240;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608091" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 2; JBTS2" ]
  ], [
     fhir:index 241;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608099" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3" ]
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     fhir:index 242;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608133" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 7; RP7" ]
  ], [
     fhir:index 243;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608358" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA" ]
  ], [
     fhir:index 244;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608380" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 26; RP26" ]
  ], [
     fhir:index 245;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608393" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6" ]
  ], [
     fhir:index 246;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608415" ];
     fhir:CodeSystem.concept.display [ fhir:value "PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS" ]
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     fhir:index 247;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608423" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2" ]
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     fhir:index 248;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608540" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K" ]
  ], [
     fhir:index 249;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608629" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 3; JBTS3" ]
  ], [
     fhir:index 250;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608643" ];
     fhir:CodeSystem.concept.display [ fhir:value "AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY" ]
  ], [
     fhir:index 251;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608716" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5" ]
  ], [
     fhir:index 252;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608804" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2" ]
  ], [
     fhir:index 253;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:608807" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10" ]
  ], [
     fhir:index 254;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609033" ];
     fhir:CodeSystem.concept.display [ fhir:value "POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1" ]
  ], [
     fhir:index 255;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609056" ];
     fhir:CodeSystem.concept.display [ fhir:value "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS" ]
  ], [
     fhir:index 256;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609195" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26" ]
  ], [
     fhir:index 257;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609200" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, MYOFIBRILLAR, 3; MFM3" ]
  ], [
     fhir:index 258;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609260" ];
     fhir:CodeSystem.concept.display [ fhir:value "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A" ]
  ], [
     fhir:index 259;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609270" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7" ]
  ], [
     fhir:index 260;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609304" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3" ]
  ], [
     fhir:index 261;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609524" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, MYOFIBRILLAR, 5; MFM5" ]
  ], [
     fhir:index 262;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609560" ];
     fhir:CodeSystem.concept.display [ fhir:value "MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2" ]
  ], [
     fhir:index 263;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:609923" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 31; RP31" ]
  ], [
     fhir:index 264;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610019" ];
     fhir:CodeSystem.concept.display [ fhir:value "CATARACT 18; CTRCT18" ]
  ], [
     fhir:index 265;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610031" ];
     fhir:CodeSystem.concept.display [ fhir:value "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7" ]
  ], [
     fhir:index 266;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610127" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10" ]
  ], [
     fhir:index 267;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610181" ];
     fhir:CodeSystem.concept.display [ fhir:value "AICARDI-GOUTIERES SYNDROME 2; AGS2" ]
  ], [
     fhir:index 268;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610188" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 5; JBTS5" ]
  ], [
     fhir:index 269;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610217" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B" ]
  ], [
     fhir:index 270;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610329" ];
     fhir:CodeSystem.concept.display [ fhir:value "AICARDI-GOUTIERES SYNDROME 3; AGS3" ]
  ], [
     fhir:index 271;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610333" ];
     fhir:CodeSystem.concept.display [ fhir:value "AICARDI-GOUTIERES SYNDROME 4; AGS4" ]
  ], [
     fhir:index 272;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610359" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 33; RP33" ]
  ], [
     fhir:index 273;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610443" ];
     fhir:CodeSystem.concept.display [ fhir:value "KOOLEN-DE VRIES SYNDROME; KDVS" ]
  ], [
     fhir:index 274;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610444" ];
     fhir:CodeSystem.concept.display [ fhir:value "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3" ]
  ], [
     fhir:index 275;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610489" ];
     fhir:CodeSystem.concept.display [ fhir:value "PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1" ]
  ], [
     fhir:index 276;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610532" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5" ]
  ], [
     fhir:index 277;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610688" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 6; JBTS6" ]
  ], [
     fhir:index 278;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610725" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHROTIC SYNDROME, TYPE 3; NPHS3" ]
  ], [
     fhir:index 279;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:610951" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7" ]
  ], [
     fhir:index 280;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611091" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5" ]
  ], [
     fhir:index 281;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611302" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2" ]
  ], [
     fhir:index 282;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611307" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12" ]
  ], [
     fhir:index 283;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611560" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 7; JBTS7" ]
  ], [
     fhir:index 284;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611603" ];
     fhir:CodeSystem.concept.display [ fhir:value "LISSENCEPHALY 3; LIS3" ]
  ], [
     fhir:index 285;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611705" ];
     fhir:CodeSystem.concept.display [ fhir:value "SALIH MYOPATHY; SALMY" ]
  ], [
     fhir:index 286;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611721" ];
     fhir:CodeSystem.concept.display [ fhir:value "COMBINED SAPOSIN DEFICIENCY" ]
  ], [
     fhir:index 287;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611726" ];
     fhir:CodeSystem.concept.display [ fhir:value "EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3" ]
  ], [
     fhir:index 288;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:611755" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEBER CONGENITAL AMAUROSIS 10; LCA10" ]
  ], [
     fhir:index 289;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612015" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N" ]
  ], [
     fhir:index 290;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612095" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 41; RP41" ]
  ], [
     fhir:index 291;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612126" ];
     fhir:CodeSystem.concept.display [ fhir:value "GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2" ]
  ], [
     fhir:index 292;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612285" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 9; JBTS9" ]
  ], [
     fhir:index 293;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612337" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22" ]
  ], [
     fhir:index 294;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612370" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5" ]
  ], [
     fhir:index 295;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612438" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6" ]
  ], [
     fhir:index 296;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612528" ];
     fhir:CodeSystem.concept.display [ fhir:value "DIAMOND-BLACKFAN ANEMIA 5; DBA5" ]
  ], [
     fhir:index 297;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612621" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5" ]
  ], [
     fhir:index 298;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612712" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEBER CONGENITAL AMAUROSIS 13; LCA13" ]
  ], [
     fhir:index 299;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612716" ];
     fhir:CodeSystem.concept.display [ fhir:value "DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY" ]
  ], [
     fhir:index 300;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612780" ];
     fhir:CodeSystem.concept.display [ fhir:value "SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES" ]
  ], [
     fhir:index 301;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612936" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50" ]
  ], [
     fhir:index 302;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612943" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 42; RP42" ]
  ], [
     fhir:index 303;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:612951" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY" ]
  ], [
     fhir:index 304;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613065" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL" ]
  ], [
     fhir:index 305;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613091" ];
     fhir:CodeSystem.concept.display [ fhir:value "SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3" ]
  ], [
     fhir:index 306;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613155" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1" ]
  ], [
     fhir:index 307;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613156" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2" ]
  ], [
     fhir:index 308;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613158" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2" ]
  ], [
     fhir:index 309;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613192" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13" ]
  ], [
     fhir:index 310;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613205" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED" ]
  ], [
     fhir:index 311;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613216" ];
     fhir:CodeSystem.concept.display [ fhir:value "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C" ]
  ], [
     fhir:index 312;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613217" ];
     fhir:CodeSystem.concept.display [ fhir:value "DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5" ]
  ], [
     fhir:index 313;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613402" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ" ]
  ], [
     fhir:index 314;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613428" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 54; RP54" ]
  ], [
     fhir:index 315;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613454" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETT SYNDROME, CONGENITAL VARIANT" ]
  ], [
     fhir:index 316;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613550" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHRONOPHTHISIS 11; NPHP11" ]
  ], [
     fhir:index 317;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613561" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2" ]
  ], [
     fhir:index 318;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613587" ];
     fhir:CodeSystem.concept.display [ fhir:value "OCCULT MACULAR DYSTROPHY; OCMD" ]
  ], [
     fhir:index 319;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613612" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I" ]
  ], [
     fhir:index 320;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613660" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONE-ROD DYSTROPHY 15; CORD15" ]
  ], [
     fhir:index 321;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613668" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY" ]
  ], [
     fhir:index 322;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613680" ];
     fhir:CodeSystem.concept.display [ fhir:value "BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS" ]
  ], [
     fhir:index 323;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613684" ];
     fhir:CodeSystem.concept.display [ fhir:value "RUBINSTEIN-TAYBI SYNDROME 2; RSTS2" ]
  ], [
     fhir:index 324;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613690" ];
     fhir:CodeSystem.concept.display [ fhir:value "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7" ]
  ], [
     fhir:index 325;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613706" ];
     fhir:CodeSystem.concept.display [ fhir:value "NOONAN SYNDROME 7; NS7" ]
  ], [
     fhir:index 326;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613722" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12" ]
  ], [
     fhir:index 327;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613731" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 4; RP4" ]
  ], [
     fhir:index 328;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613744" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51" ]
  ], [
     fhir:index 329;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613750" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 27; RP27" ]
  ], [
     fhir:index 330;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613756" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 49; RP49" ]
  ], [
     fhir:index 331;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613767" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 45; RP45" ]
  ], [
     fhir:index 332;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613794" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 20; RP20" ]
  ], [
     fhir:index 333;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613809" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 39; RP39" ]
  ], [
     fhir:index 334;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613810" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 43; RP43" ]
  ], [
     fhir:index 335;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613811" ];
     fhir:CodeSystem.concept.display [ fhir:value "PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D" ]
  ], [
     fhir:index 336;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613820" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHRONOPHTHISIS 12; NPHP12" ]
  ], [
     fhir:index 337;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613835" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEBER CONGENITAL AMAUROSIS 8; LCA8" ]
  ], [
     fhir:index 338;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613861" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 59; RP59" ]
  ], [
     fhir:index 339;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:613862" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 38; RP38" ]
  ], [
     fhir:index 340;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614034" ];
     fhir:CodeSystem.concept.display [ fhir:value "HEME OXYGENASE 1 DEFICIENCY; HMOX1D" ]
  ], [
     fhir:index 341;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614065" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, DISTAL, 4; MPD4" ]
  ], [
     fhir:index 342;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614173" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 13; JBTS13" ]
  ], [
     fhir:index 343;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614180" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 61; RP61" ]
  ], [
     fhir:index 344;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614181" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 62; RP62" ]
  ], [
     fhir:index 345;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614199" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5" ]
  ], [
     fhir:index 346;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614202" ];
     fhir:CodeSystem.concept.display [ fhir:value "RAFIQ SYNDROME; RAFQS" ]
  ], [
     fhir:index 347;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614225" ];
     fhir:CodeSystem.concept.display [ fhir:value "WARBURG MICRO SYNDROME 2; WARBM2" ]
  ], [
     fhir:index 348;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614254" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD" ]
  ], [
     fhir:index 349;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614255" ];
     fhir:CodeSystem.concept.display [ fhir:value "NESCAV SYNDROME; NESCAVS" ]
  ], [
     fhir:index 350;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614299" ];
     fhir:CodeSystem.concept.display [ fhir:value "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2" ]
  ], [
     fhir:index 351;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614381" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8" ]
  ], [
     fhir:index 352;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614424" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 14; JBTS14" ]
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     fhir:index 353;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614500" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONE-ROD DYSTROPHY 16; CORD16" ]
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     fhir:index 354;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614557" ];
     fhir:CodeSystem.concept.display [ fhir:value "EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2" ]
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     fhir:index 355;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614607" ];
     fhir:CodeSystem.concept.display [ fhir:value "COFFIN-SIRIS SYNDROME 2; CSS2" ]
  ], [
     fhir:index 356;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614615" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 17; JBTS17" ]
  ], [
     fhir:index 357;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614669" ];
     fhir:CodeSystem.concept.display [ fhir:value "AURICULOCONDYLAR SYNDROME 2; ARCND2" ]
  ], [
     fhir:index 358;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614678" ];
     fhir:CodeSystem.concept.display [ fhir:value "PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B" ]
  ], [
     fhir:index 359;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614744" ];
     fhir:CodeSystem.concept.display [ fhir:value "FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3" ]
  ], [
     fhir:index 360;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614753" ];
     fhir:CodeSystem.concept.display [ fhir:value "SOTOS SYNDROME 2; SOTOS2" ]
  ], [
     fhir:index 361;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614831" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13" ]
  ], [
     fhir:index 362;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614833" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP" ]
  ], [
     fhir:index 363;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614876" ];
     fhir:CodeSystem.concept.display [ fhir:value "PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A" ]
  ], [
     fhir:index 364;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614877" ];
     fhir:CodeSystem.concept.display [ fhir:value "PEROXISOME BIOGENESIS DISORDER 8B; PBD8B" ]
  ], [
     fhir:index 365;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614932" ];
     fhir:CodeSystem.concept.display [ fhir:value "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13" ]
  ], [
     fhir:index 366;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614945" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B" ]
  ], [
     fhir:index 367;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615030" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56" ]
  ], [
     fhir:index 368;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615031" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49" ]
  ], [
     fhir:index 369;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615065" ];
     fhir:CodeSystem.concept.display [ fhir:value "ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D" ]
  ], [
     fhir:index 370;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615071" ];
     fhir:CodeSystem.concept.display [ fhir:value "ALAZAMI SYNDROME; ALAZS" ]
  ], [
     fhir:index 371;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615095" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10" ]
  ], [
     fhir:index 372;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615181" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11" ]
  ], [
     fhir:index 373;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615190" ];
     fhir:CodeSystem.concept.display [ fhir:value "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5" ]
  ], [
     fhir:index 374;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615191" ];
     fhir:CodeSystem.concept.display [ fhir:value "LISSENCEPHALY 5; LIS5" ]
  ], [
     fhir:index 375;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615268" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4" ]
  ], [
     fhir:index 376;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615286" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36" ]
  ], [
     fhir:index 377;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615352" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14" ]
  ], [
     fhir:index 378;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615411" ];
     fhir:CodeSystem.concept.display [ fhir:value "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3" ]
  ], [
     fhir:index 379;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615412" ];
     fhir:CodeSystem.concept.display [ fhir:value "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4" ]
  ], [
     fhir:index 380;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615419" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1" ]
  ], [
     fhir:index 381;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615471" ];
     fhir:CodeSystem.concept.display [ fhir:value "MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13" ]
  ], [
     fhir:index 382;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615476" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18" ]
  ], [
     fhir:index 383;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615485" ];
     fhir:CodeSystem.concept.display [ fhir:value "BAINBRIDGE-ROPERS SYNDROME; BRPS" ]
  ], [
     fhir:index 384;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615502" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21" ]
  ], [
     fhir:index 385;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615546" ];
     fhir:CodeSystem.concept.display [ fhir:value "VAN MALDERGEM SYNDROME 2; VMLDS2" ]
  ], [
     fhir:index 386;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615574" ];
     fhir:CodeSystem.concept.display [ fhir:value "ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD" ]
  ], [
     fhir:index 387;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615681" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62" ]
  ], [
     fhir:index 388;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615715" ];
     fhir:CodeSystem.concept.display [ fhir:value "BONE MARROW FAILURE SYNDROME 2; BMFS2" ]
  ], [
     fhir:index 389;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615716" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4" ]
  ], [
     fhir:index 390;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615760" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA" ]
  ], [
     fhir:index 391;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615763" ];
     fhir:CodeSystem.concept.display [ fhir:value "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5" ]
  ], [
     fhir:index 392;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615809" ];
     fhir:CodeSystem.concept.display [ fhir:value "PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9" ]
  ], [
     fhir:index 393;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615829" ];
     fhir:CodeSystem.concept.display [ fhir:value "XIA-GIBBS SYNDROME; XIGIS" ]
  ], [
     fhir:index 394;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615834" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26" ]
  ], [
     fhir:index 395;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615846" ];
     fhir:CodeSystem.concept.display [ fhir:value "AICARDI-GOUTIERES SYNDROME 7; AGS7" ]
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     fhir:index 396;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615866" ];
     fhir:CodeSystem.concept.display [ fhir:value "COFFIN-SIRIS SYNDROME 9; CSS9" ]
  ], [
     fhir:index 397;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615909" ];
     fhir:CodeSystem.concept.display [ fhir:value "DIAMOND-BLACKFAN ANEMIA 13; DBA13" ]
  ], [
     fhir:index 398;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615948" ];
     fhir:CodeSystem.concept.display [ fhir:value "OROFACIODIGITAL SYNDROME XIV; OFD14" ]
  ], [
     fhir:index 399;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615959" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, CENTRONUCLEAR, 5; CNM5" ]
  ], [
     fhir:index 400;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615960" ];
     fhir:CodeSystem.concept.display [ fhir:value "PORETTI-BOLTSHAUSER SYNDROME; PTBHS" ]
  ], [
     fhir:index 401;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615973" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONE-ROD DYSTROPHY 20; CORD20" ]
  ], [
     fhir:index 402;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615981" ];
     fhir:CodeSystem.concept.display [ fhir:value "BARDET-BIEDL SYNDROME 2; BBS2" ]
  ], [
     fhir:index 403;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615982" ];
     fhir:CodeSystem.concept.display [ fhir:value "BARDET-BIEDL SYNDROME 4; BBS4" ]
  ], [
     fhir:index 404;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615983" ];
     fhir:CodeSystem.concept.display [ fhir:value "BARDET-BIEDL SYNDROME 5; BBS5" ]
  ], [
     fhir:index 405;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:615993" ];
     fhir:CodeSystem.concept.display [ fhir:value "BARDET-BIEDL SYNDROME 16; BBS16" ]
  ], [
     fhir:index 406;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616051" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13" ]
  ], [
     fhir:index 407;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616056" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26" ]
  ], [
     fhir:index 408;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616081" ];
     fhir:CodeSystem.concept.display [ fhir:value "PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C" ]
  ], [
     fhir:index 409;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616094" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12" ]
  ], [
     fhir:index 410;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616127" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17" ]
  ], [
     fhir:index 411;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616140" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9" ]
  ], [
     fhir:index 412;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616155" ];
     fhir:CodeSystem.concept.display [ fhir:value "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S" ]
  ], [
     fhir:index 413;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616171" ];
     fhir:CodeSystem.concept.display [ fhir:value "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2" ]
  ], [
     fhir:index 414;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616199" ];
     fhir:CodeSystem.concept.display [ fhir:value "POLYGLUCOSAN BODY MYOPATHY 2; PGBM2" ]
  ], [
     fhir:index 415;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616211" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28" ]
  ], [
     fhir:index 416;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616263" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD" ]
  ], [
     fhir:index 417;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616266" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD" ]
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     fhir:index 418;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616271" ];
     fhir:CodeSystem.concept.display [ fhir:value "3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7" ]
  ], [
     fhir:index 419;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616277" ];
     fhir:CodeSystem.concept.display [ fhir:value "MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D" ]
  ], [
     fhir:index 420;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616281" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM" ]
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     fhir:index 421;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616321" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A" ]
  ], [
     fhir:index 422;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616354" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20" ]
  ], [
     fhir:index 423;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616394" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 71; RP71" ]
  ], [
     fhir:index 424;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616420" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10" ]
  ], [
     fhir:index 425;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616421" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOCLONIC-ATONIC EPILEPSY; MAE" ]
  ], [
     fhir:index 426;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616471" ];
     fhir:CodeSystem.concept.display [ fhir:value "BETHLEM MYOPATHY 2; BTHLM2" ]
  ], [
     fhir:index 427;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616490" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 23; JBTS23" ]
  ], [
     fhir:index 428;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616531" ];
     fhir:CodeSystem.concept.display [ fhir:value "POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA" ]
  ], [
     fhir:index 429;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616544" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 73; RP73" ]
  ], [
     fhir:index 430;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616562" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 74; RP74" ]
  ], [
     fhir:index 431;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616564" ];
     fhir:CodeSystem.concept.display [ fhir:value "NOONAN SYNDROME 10; NS10" ]
  ], [
     fhir:index 432;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616632" ];
     fhir:CodeSystem.concept.display [ fhir:value "SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS" ]
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     fhir:index 433;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616647" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35" ]
  ], [
     fhir:index 434;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616649" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPHEROCYTOSIS, TYPE 2; SPH2" ]
  ], [
     fhir:index 435;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616651" ];
     fhir:CodeSystem.concept.display [ fhir:value "ROIFMAN SYNDROME; RFMN" ]
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     fhir:index 436;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616654" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 24; JBTS24" ]
  ], [
     fhir:index 437;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616657" ];
     fhir:CodeSystem.concept.display [ fhir:value "SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM" ]
  ], [
     fhir:index 438;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616668" ];
     fhir:CodeSystem.concept.display [ fhir:value "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X" ]
  ], [
     fhir:index 439;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616683" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12" ]
  ], [
     fhir:index 440;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616721" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N" ]
  ], [
     fhir:index 441;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616732" ];
     fhir:CodeSystem.concept.display [ fhir:value "OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10" ]
  ], [
     fhir:index 442;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616738" ];
     fhir:CodeSystem.concept.display [ fhir:value "RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2" ]
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     fhir:index 443;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616740" ];
     fhir:CodeSystem.concept.display [ fhir:value "IMMUNODEFICIENCY 46; IMD46" ]
  ], [
     fhir:index 444;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616789" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD" ]
  ], [
     fhir:index 445;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616801" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2" ]
  ], [
     fhir:index 446;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616875" ];
     fhir:CodeSystem.concept.display [ fhir:value "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR" ]
  ], [
     fhir:index 447;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616892" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEPHROTIC SYNDROME, TYPE 12; NPHS12" ]
  ], [
     fhir:index 448;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616900" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3" ]
  ], [
     fhir:index 449;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:616973" ];
     fhir:CodeSystem.concept.display [ fhir:value "MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42" ]
  ], [
     fhir:index 450;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617011" ];
     fhir:CodeSystem.concept.display [ fhir:value "MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR" ]
  ], [
     fhir:index 451;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617013" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2" ]
  ], [
     fhir:index 452;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617047" ];
     fhir:CodeSystem.concept.display [ fhir:value "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26" ]
  ], [
     fhir:index 453;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617052" ];
     fhir:CodeSystem.concept.display [ fhir:value "BONE MARROW FAILURE SYNDROME 3; BMFS3" ]
  ], [
     fhir:index 454;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617053" ];
     fhir:CodeSystem.concept.display [ fhir:value "MIRAGE SYNDROME; MIRAGE" ]
  ], [
     fhir:index 455;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617093" ];
     fhir:CodeSystem.concept.display [ fhir:value "GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH" ]
  ], [
     fhir:index 456;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617106" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42" ]
  ], [
     fhir:index 457;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617120" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 27; JBTS27" ]
  ], [
     fhir:index 458;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617121" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 28; JBTS28" ]
  ], [
     fhir:index 459;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617123" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 76; RP76" ]
  ], [
     fhir:index 460;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617137" ];
     fhir:CodeSystem.concept.display [ fhir:value "FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2" ]
  ], [
     fhir:index 461;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617146" ];
     fhir:CodeSystem.concept.display [ fhir:value "ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT" ]
  ], [
     fhir:index 462;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617183" ];
     fhir:CodeSystem.concept.display [ fhir:value "HAREL-YOON SYNDROME; HAYOS" ]
  ], [
     fhir:index 463;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617193" ];
     fhir:CodeSystem.concept.display [ fhir:value "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT" ]
  ], [
     fhir:index 464;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617222" ];
     fhir:CodeSystem.concept.display [ fhir:value "SUDDEN CARDIAC FAILURE, INFANTILE; SCFI" ]
  ], [
     fhir:index 465;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617276" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48" ]
  ], [
     fhir:index 466;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617330" ];
     fhir:CodeSystem.concept.display [ fhir:value "HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS" ]
  ], [
     fhir:index 467;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617350" ];
     fhir:CodeSystem.concept.display [ fhir:value "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52" ]
  ], [
     fhir:index 468;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617397" ];
     fhir:CodeSystem.concept.display [ fhir:value "PSEUDO-TORCH SYNDROME 2; PTORCH2" ]
  ], [
     fhir:index 469;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617433" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 78; RP78" ]
  ], [
     fhir:index 470;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617443" ];
     fhir:CodeSystem.concept.display [ fhir:value "BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21" ]
  ], [
     fhir:index 471;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617460" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 79; RP79" ]
  ], [
     fhir:index 472;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617481" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA" ]
  ], [
     fhir:index 473;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617537" ];
     fhir:CodeSystem.concept.display [ fhir:value "RAHMAN SYNDROME; RMNS" ]
  ], [
     fhir:index 474;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617547" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS" ]
  ], [
     fhir:index 475;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617622" ];
     fhir:CodeSystem.concept.display [ fhir:value "JOUBERT SYNDROME 30; JBTS30" ]
  ], [
     fhir:index 476;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617675" ];
     fhir:CodeSystem.concept.display [ fhir:value "MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT" ]
  ], [
     fhir:index 477;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617681" ];
     fhir:CodeSystem.concept.display [ fhir:value "BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2" ]
  ], [
     fhir:index 478;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617694" ];
     fhir:CodeSystem.concept.display [ fhir:value "AL KAISSI SYNDROME; ALKAS" ]
  ], [
     fhir:index 479;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617781" ];
     fhir:CodeSystem.concept.display [ fhir:value "RETINITIS PIGMENTOSA 80; RP80" ]
  ], [
     fhir:index 480;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617805" ];
     fhir:CodeSystem.concept.display [ fhir:value "RENAL HYPODYSPLASIA/APLASIA 3; RHDA3" ]
  ], [
     fhir:index 481;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617807" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW" ]
  ], [
     fhir:index 482;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617829" ];
     fhir:CodeSystem.concept.display [ fhir:value "EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2" ]
  ], [
     fhir:index 483;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617873" ];
     fhir:CodeSystem.concept.display [ fhir:value "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35" ]
  ], [
     fhir:index 484;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617948" ];
     fhir:CodeSystem.concept.display [ fhir:value "ELLIPTOCYTOSIS 3; EL3" ]
  ], [
     fhir:index 485;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:617954" ];
     fhir:CodeSystem.concept.display [ fhir:value "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6" ]
  ], [
     fhir:index 486;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618056" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS" ]
  ], [
     fhir:index 487;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618088" ];
     fhir:CodeSystem.concept.display [ fhir:value "NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS" ]
  ], [
     fhir:index 488;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618129" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4" ]
  ], [
     fhir:index 489;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618138" ];
     fhir:CodeSystem.concept.display [ fhir:value "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23" ]
  ], [
     fhir:index 490;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618174" ];
     fhir:CodeSystem.concept.display [ fhir:value "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9" ]
  ], [
     fhir:index 491;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618225" ];
     fhir:CodeSystem.concept.display [ fhir:value "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4" ]
  ], [
     fhir:index 492;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618273" ];
     fhir:CodeSystem.concept.display [ fhir:value "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM" ]
  ], [
     fhir:index 493;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618316" ];
     fhir:CodeSystem.concept.display [ fhir:value "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF" ]
  ], [
     fhir:index 494;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618325" ];
     fhir:CodeSystem.concept.display [ fhir:value "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9" ]
  ], [
     fhir:index 495;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618404" ];
     fhir:CodeSystem.concept.display [ fhir:value "LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18" ]
  ], [
     fhir:index 496;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:618512" ];
     fhir:CodeSystem.concept.display [ fhir:value "O\\'DONNELL-LURIA-RODAN SYNDROME; ODLURO" ]
  ], [
     fhir:index 497;
     fhir:CodeSystem.concept.code [ fhir:value "OMIM:614921" ];
     fhir:CodeSystem.concept.display [ fhir:value "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T" ]
  ]. # 

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.