NCPI FHIR Implementation Guide
0.1.0 - ci-build
NCPI FHIR Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions
| Official URL: https://ncpi-fhir.github.io/ncpi-fhir-ig/ValueSet/disease-codes | Version: 0.1.0 | |||
| Draft as of 2022-08-09 | Computable Name: DiseaseCodes | |||
This value set includes all codes from this FHIR server’s representation of OMIM, Mondo and NICt CodeSystems.
References
This value set includes codes based on the following rules:
https://omim.org/http://purl.obolibrary.org/obo/mondo.owlhttp://purl.obolibrary.org/obo/ncit.owl
This value set contains 504 concepts
Expansion based on code system fragments:
Expansion based on:
| Code | System | Display |
| OMIM:613801 | https://omim.org/ | Retinitis pigmentosa-40 |
| OMIM:213300 | https://omim.org/ | Joubert syndrome 1 |
| OMIM:615780 | https://omim.org/ | Retinitis pigmentosa 69 |
| OMIM:613826 | https://omim.org/ | Leber congenital amaurosis 6 |
| OMIM:310200 | https://omim.org/ | Duchenne muscular dystrophy |
| OMIM:617194 | https://omim.org/ | Lethal congenital contracture syndrome 11 |
| OMIM:105400 | https://omim.org/ | AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 |
| OMIM:108120 | https://omim.org/ | ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A |
| OMIM:114300 | https://omim.org/ | ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 |
| OMIM:115195 | https://omim.org/ | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 |
| OMIM:115196 | https://omim.org/ | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 |
| OMIM:115197 | https://omim.org/ | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 |
| OMIM:115200 | https://omim.org/ | CARDIOMYOPATHY, DILATED, 1A; CMD1A |
| OMIM:117000 | https://omim.org/ | CENTRAL CORE DISEASE OF MUSCLE; CCD |
| OMIM:117360 | https://omim.org/ | SPINOCEREBELLAR ATAXIA 29; SCA29 |
| OMIM:119530 | https://omim.org/ | OROFACIAL CLEFT 1; OFC1 |
| OMIM:122470 | https://omim.org/ | CORNELIA DE LANGE SYNDROME 1; CDLS1 |
| OMIM:130600 | https://omim.org/ | ELLIPTOCYTOSIS 2; EL2 |
| OMIM:135900 | https://omim.org/ | COFFIN-SIRIS SYNDROME 1; CSS1 |
| OMIM:136140 | https://omim.org/ | FLOATING-HARBOR SYNDROME; FLHS |
| OMIM:137920 | https://omim.org/ | RENAL CYSTS AND DIABETES SYNDROME; RCAD |
| OMIM:139090 | https://omim.org/ | GRAY PLATELET SYNDROME; GPS |
| OMIM:139210 | https://omim.org/ | MYHRE SYNDROME; MYHRS |
| OMIM:143095 | https://omim.org/ | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD |
| OMIM:143465 | https://omim.org/ | ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD |
| OMIM:147891 | https://omim.org/ | ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS |
| OMIM:147920 | https://omim.org/ | KABUKI SYNDROME 1; KABUK1 |
| OMIM:148050 | https://omim.org/ | KBG SYNDROME; KBGS |
| OMIM:149400 | https://omim.org/ | HYPEREKPLEXIA 1; HKPX1 |
| OMIM:152950 | https://omim.org/ | MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR |
| OMIM:153670 | https://omim.org/ | BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2 |
| OMIM:154400 | https://omim.org/ | ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 |
| OMIM:154700 | https://omim.org/ | MARFAN SYNDROME; MFS |
| OMIM:155310 | https://omim.org/ | VISCERAL MYOPATHY; VSCM |
| OMIM:158590 | https://omim.org/ | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A |
| OMIM:158810 | https://omim.org/ | BETHLEM MYOPATHY 1; BTHLM1 |
| OMIM:159550 | https://omim.org/ | ATAXIA-PANCYTOPENIA SYNDROME; ATXPC |
| OMIM:160150 | https://omim.org/ | MYOPATHY, CENTRONUCLEAR, 1; CNM1 |
| OMIM:160500 | https://omim.org/ | MYOPATHY, DISTAL, 1; MPD1 |
| OMIM:160800 | https://omim.org/ | MYOTONIA CONGENITA, AUTOSOMAL DOMINANT |
| OMIM:160900 | https://omim.org/ | MYOTONIC DYSTROPHY 1; DM1 |
| OMIM:161800 | https://omim.org/ | NEMALINE MYOPATHY 3; NEM3 |
| OMIM:163950 | https://omim.org/ | NOONAN SYNDROME 1; NS1 |
| OMIM:178110 | https://omim.org/ | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A |
| OMIM:178500 | https://omim.org/ | PULMONARY FIBROSIS, IDIOPATHIC; IPF |
| OMIM:180100 | https://omim.org/ | RETINITIS PIGMENTOSA 1; RP1 |
| OMIM:180849 | https://omim.org/ | RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 |
| OMIM:181430 | https://omim.org/ | SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM |
| OMIM:182601 | https://omim.org/ | SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 |
| OMIM:188000 | https://omim.org/ | THROMBOCYTOPENIA 2; THC2 |
| OMIM:191480 | https://omim.org/ | UNCOMBABLE HAIR SYNDROME 1; UHS1 |
| OMIM:203800 | https://omim.org/ | ALSTROM SYNDROME; ALMS |
| OMIM:204200 | https://omim.org/ | CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 |
| OMIM:204500 | https://omim.org/ | CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 |
| OMIM:205100 | https://omim.org/ | AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 |
| OMIM:206900 | https://omim.org/ | MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 |
| OMIM:208900 | https://omim.org/ | ATAXIA-TELANGIECTASIA; AT |
| OMIM:209850 | https://omim.org/ | AUTISM |
| OMIM:209900 | https://omim.org/ | BARDET-BIEDL SYNDROME 1; BBS1 |
| OMIM:210000 | https://omim.org/ | BEHR SYNDROME; BEHRS |
| OMIM:210720 | https://omim.org/ | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 |
| OMIM:210900 | https://omim.org/ | BLOOM SYNDROME; BLM |
| OMIM:212065 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A |
| OMIM:212066 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A |
| OMIM:214500 | https://omim.org/ | CHEDIAK-HIGASHI SYNDROME; CHS |
| OMIM:214800 | https://omim.org/ | CHARGE SYNDROME |
| OMIM:215500 | https://omim.org/ | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1 |
| OMIM:216400 | https://omim.org/ | COCKAYNE SYNDROME A; CSA |
| OMIM:216550 | https://omim.org/ | COHEN SYNDROME; COH1 |
| OMIM:217080 | https://omim.org/ | JALILI SYNDROME |
| OMIM:217980 | https://omim.org/ | CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE |
| OMIM:218340 | https://omim.org/ | TEMTAMY SYNDROME; TEMTYS |
| OMIM:219200 | https://omim.org/ | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A |
| OMIM:224050 | https://omim.org/ | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 |
| OMIM:224690 | https://omim.org/ | MEIER-GORLIN SYNDROME 1; MGORS1 |
| OMIM:225753 | https://omim.org/ | PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 |
| OMIM:225790 | https://omim.org/ | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH |
| OMIM:227650 | https://omim.org/ | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA |
| OMIM:229600 | https://omim.org/ | FRUCTOSE INTOLERANCE, HEREDITARY; HFI |
| OMIM:230000 | https://omim.org/ | FUCOSIDOSIS |
| OMIM:230500 | https://omim.org/ | GM1-GANGLIOSIDOSIS, TYPE I |
| OMIM:232300 | https://omim.org/ | GLYCOGEN STORAGE DISEASE II; GSD2 |
| OMIM:232600 | https://omim.org/ | GLYCOGEN STORAGE DISEASE V; GSD5 |
| OMIM:234200 | https://omim.org/ | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 |
| OMIM:234500 | https://omim.org/ | HARTNUP DISORDER; HND |
| OMIM:236000 | https://omim.org/ | LYMPHOMA, HODGKIN, CLASSIC; CHL |
| OMIM:236600 | https://omim.org/ | HYDROCEPHALUS, CONGENITAL, 1; HYC1 |
| OMIM:236792 | https://omim.org/ | L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA |
| OMIM:243310 | https://omim.org/ | BARAITSER-WINTER SYNDROME 1; BRWS1 |
| OMIM:244450 | https://omim.org/ | KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS |
| OMIM:245200 | https://omim.org/ | KRABBE DISEASE |
| OMIM:245359 | https://omim.org/ | missing |
| OMIM:248200 | https://omim.org/ | STARGARDT DISEASE 1; STGD1 |
| OMIM:248700 | https://omim.org/ | MARDEN-WALKER SYNDROME; MWKS |
| OMIM:249000 | https://omim.org/ | MECKEL SYNDROME, TYPE 1; MKS1 |
| OMIM:249900 | https://omim.org/ | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY |
| OMIM:250100 | https://omim.org/ | METACHROMATIC LEUKODYSTROPHY; MLD |
| OMIM:250620 | https://omim.org/ | 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD |
| OMIM:251200 | https://omim.org/ | MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 |
| OMIM:251260 | https://omim.org/ | NIJMEGEN BREAKAGE SYNDROME; NBS |
| OMIM:251280 | https://omim.org/ | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1 |
| OMIM:251290 | https://omim.org/ | PSEUDO-TORCH SYNDROME 1; PTORCH1 |
| OMIM:251300 | https://omim.org/ | GALLOWAY-MOWAT SYNDROME 1; GAMOS1 |
| OMIM:252010 | https://omim.org/ | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1 |
| OMIM:252160 | https://omim.org/ | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB |
| OMIM:252920 | https://omim.org/ | MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B |
| OMIM:253250 | https://omim.org/ | MULIBREY NANISM |
| OMIM:253600 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 |
| OMIM:253601 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2 |
| OMIM:253700 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5 |
| OMIM:254090 | https://omim.org/ | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1 |
| OMIM:254110 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8 |
| OMIM:254300 | https://omim.org/ | MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10 |
| OMIM:254780 | https://omim.org/ | MYOCLONIC EPILEPSY OF LAFORA |
| OMIM:254940 | https://omim.org/ | CAREY-FINEMAN-ZITER SYNDROME; CFZS |
| OMIM:255310 | https://omim.org/ | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
| OMIM:255320 | https://omim.org/ | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA |
| OMIM:255800 | https://omim.org/ | SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 |
| OMIM:256000 | https://omim.org/ | LEIGH SYNDROME; LS |
| OMIM:256300 | https://omim.org/ | NEPHROTIC SYNDROME, TYPE 1; NPHS1 |
| OMIM:256600 | https://omim.org/ | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A |
| OMIM:256700 | https://omim.org/ | NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1 |
| OMIM:256730 | https://omim.org/ | CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 |
| OMIM:256731 | https://omim.org/ | CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 |
| OMIM:256800 | https://omim.org/ | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA |
| OMIM:256850 | https://omim.org/ | GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1 |
| OMIM:257220 | https://omim.org/ | NIEMANN-PICK DISEASE, TYPE C1; NPC1 |
| OMIM:257320 | https://omim.org/ | LISSENCEPHALY 2; LIS2 |
| OMIM:260400 | https://omim.org/ | SHWACHMAN-DIAMOND SYNDROME 1; SDS1 |
| OMIM:260565 | https://omim.org/ | PEHO SYNDROME; PEHO |
| OMIM:261630 | https://omim.org/ | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C |
| OMIM:262500 | https://omim.org/ | LARON SYNDROME |
| OMIM:263200 | https://omim.org/ | POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4 |
| OMIM:265000 | https://omim.org/ | MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS |
| OMIM:266100 | https://omim.org/ | EPILEPSY, PYRIDOXINE-DEPENDENT; EPD |
| OMIM:266265 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C |
| OMIM:266500 | https://omim.org/ | REFSUM DISEASE, CLASSIC |
| OMIM:266510 | https://omim.org/ | PEROXISOME BIOGENESIS DISORDER 3B; PBD3B |
| OMIM:268800 | https://omim.org/ | SANDHOFF DISEASE |
| OMIM:270200 | https://omim.org/ | SJOGREN-LARSSON SYNDROME; SLS |
| OMIM:270800 | https://omim.org/ | SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A |
| OMIM:271900 | https://omim.org/ | CANAVAN DISEASE |
| OMIM:272800 | https://omim.org/ | TAY-SACHS DISEASE; TSD |
| OMIM:273300 | https://omim.org/ | TESTICULAR GERM CELL TUMOR; TGCT |
| OMIM:274000 | https://omim.org/ | THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR |
| OMIM:276901 | https://omim.org/ | USHER SYNDROME, TYPE IIA; USH2A |
| OMIM:277470 | https://omim.org/ | PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A |
| OMIM:300029 | https://omim.org/ | RETINITIS PIGMENTOSA 3; RP3 |
| OMIM:300067 | https://omim.org/ | LISSENCEPHALY, X-LINKED, 1; LISX1 |
| OMIM:300088 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9 |
| OMIM:300100 | https://omim.org/ | ADRENOLEUKODYSTROPHY; ALD |
| OMIM:300376 | https://omim.org/ | MUSCULAR DYSTROPHY, BECKER TYPE; BMD |
| OMIM:300387 | https://omim.org/ | MENTAL RETARDATION, X-LINKED 63; MRX63 |
| OMIM:300476 | https://omim.org/ | CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 |
| OMIM:300486 | https://omim.org/ | MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE |
| OMIM:300495 | https://omim.org/ | AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 |
| OMIM:300523 | https://omim.org/ | ALLAN-HERNDON-DUDLEY SYNDROME; AHDS |
| OMIM:300534 | https://omim.org/ | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ |
| OMIM:300695 | https://omim.org/ | SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM |
| OMIM:300749 | https://omim.org/ | MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH |
| OMIM:300804 | https://omim.org/ | JOUBERT SYNDROME 10; JBTS10 |
| OMIM:300881 | https://omim.org/ | MOVED TO 615777 |
| OMIM:300882 | https://omim.org/ | CORNELIA DE LANGE SYNDROME 5; CDLS5 |
| OMIM:300894 | https://omim.org/ | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 |
| OMIM:300908 | https://omim.org/ | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY |
| OMIM:300957 | https://omim.org/ | MENTAL RETARDATION, X-LINKED 12; MRX12 |
| OMIM:300958 | https://omim.org/ | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB |
| OMIM:300966 | https://omim.org/ | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 |
| OMIM:300968 | https://omim.org/ | MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F |
| OMIM:300983 | https://omim.org/ | MENTAL RETARDATION, X-LINKED 104; MRX104 |
| OMIM:300986 | https://omim.org/ | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB |
| OMIM:301050 | https://omim.org/ | ALPORT SYNDROME 1, X-LINKED; ATS1 |
| OMIM:301310 | https://omim.org/ | ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT |
| OMIM:304340 | https://omim.org/ | PETTIGREW SYNDROME; PGS |
| OMIM:305100 | https://omim.org/ | ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED |
| OMIM:308350 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1 |
| OMIM:309500 | https://omim.org/ | RENPENNING SYNDROME 1; RENS1 |
| OMIM:309541 | https://omim.org/ | METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE |
| OMIM:309580 | https://omim.org/ | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 |
| OMIM:310468 | https://omim.org/ | NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN |
| OMIM:311070 | https://omim.org/ | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 |
| OMIM:313850 | https://omim.org/ | THORACOABDOMINAL SYNDROME; THAS |
| OMIM:314580 | https://omim.org/ | WIEACKER-WOLFF SYNDROME; WRWF |
| OMIM:600059 | https://omim.org/ | RETINITIS PIGMENTOSA 13; RP13 |
| OMIM:600105 | https://omim.org/ | RETINITIS PIGMENTOSA 12; RP12 |
| OMIM:600118 | https://omim.org/ | WARBURG MICRO SYNDROME 1; WARBM1 |
| OMIM:600132 | https://omim.org/ | RETINITIS PIGMENTOSA 14; RP14 |
| OMIM:600138 | https://omim.org/ | RETINITIS PIGMENTOSA 11; RP11 |
| OMIM:600143 | https://omim.org/ | CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 |
| OMIM:600334 | https://omim.org/ | TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD |
| OMIM:600373 | https://omim.org/ | CODAS SYNDROME |
| OMIM:600618 | https://omim.org/ | ETS VARIANT GENE 6; ETV6 |
| OMIM:600995 | https://omim.org/ | NEPHROTIC SYNDROME, TYPE 2; NPHS2 |
| OMIM:601088 | https://omim.org/ | AYME-GRIPP SYNDROME; AYGRP |
| OMIM:601414 | https://omim.org/ | RETINITIS PIGMENTOSA 18; RP18 |
| OMIM:601419 | https://omim.org/ | MYOPATHY, MYOFIBRILLAR, 1; MFM1 |
| OMIM:601680 | https://omim.org/ | ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1 |
| OMIM:601718 | https://omim.org/ | RETINITIS PIGMENTOSA 19; RP19 |
| OMIM:601780 | https://omim.org/ | CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6 |
| OMIM:601815 | https://omim.org/ | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD |
| OMIM:601954 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7 |
| OMIM:602482 | https://omim.org/ | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3 |
| OMIM:602579 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B |
| OMIM:602772 | https://omim.org/ | RETINITIS PIGMENTOSA 25; RP25 |
| OMIM:603511 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1 |
| OMIM:603896 | https://omim.org/ | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM |
| OMIM:604004 | https://omim.org/ | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1 |
| OMIM:604116 | https://omim.org/ | CONE-ROD DYSTROPHY 3; CORD3 |
| OMIM:604273 | https://omim.org/ | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 |
| OMIM:604286 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4 |
| OMIM:604317 | https://omim.org/ | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2 |
| OMIM:604360 | https://omim.org/ | SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 |
| OMIM:604387 | https://omim.org/ | NEPHRONOPHTHISIS 3; NPHP3 |
| OMIM:604537 | https://omim.org/ | LEBER CONGENITAL AMAUROSIS 5; LCA5 |
| OMIM:604592 | https://omim.org/ | T CELL IMMUNE REGULATOR 1; TCIRG1 |
| OMIM:605130 | https://omim.org/ | WIEDEMANN-STEINER SYNDROME; WDSTS |
| OMIM:605355 | https://omim.org/ | NEMALINE MYOPATHY 5; NEM5 |
| OMIM:605407 | https://omim.org/ | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE |
| OMIM:605637 | https://omim.org/ | MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP |
| OMIM:605670 | https://omim.org/ | LATE-ONSET RETINAL DEGENERATION; LORD |
| OMIM:605820 | https://omim.org/ | NONAKA MYOPATHY; NM |
| OMIM:605899 | https://omim.org/ | GLYCINE ENCEPHALOPATHY; GCE |
| OMIM:606068 | https://omim.org/ | RETINITIS PIGMENTOSA 28; RP28 |
| OMIM:606170 | https://omim.org/ | GENITOPATELLAR SYNDROME; GTPTS |
| OMIM:606232 | https://omim.org/ | PHELAN-MCDERMID SYNDROME; PHMDS |
| OMIM:606777 | https://omim.org/ | GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 |
| OMIM:606854 | https://omim.org/ | POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP |
| OMIM:606966 | https://omim.org/ | NEPHRONOPHTHISIS 4; NPHP4 |
| OMIM:606996 | https://omim.org/ | SENIOR-LOKEN SYNDROME 4; SLSN4 |
| OMIM:607015 | https://omim.org/ | HURLER-SCHEIE SYNDROME |
| OMIM:607155 | https://omim.org/ | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 |
| OMIM:607196 | https://omim.org/ | MICROCEPHALY, AMISH TYPE; MCPHA |
| OMIM:607225 | https://omim.org/ | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP |
| OMIM:607426 | https://omim.org/ | COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 |
| OMIM:607432 | https://omim.org/ | LISSENCEPHALY 1; LIS1 |
| OMIM:607483 | https://omim.org/ | THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2 |
| OMIM:607595 | https://omim.org/ | MOVED TO 175780 |
| OMIM:607596 | https://omim.org/ | PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A |
| OMIM:607855 | https://omim.org/ | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A |
| OMIM:608027 | https://omim.org/ | PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 |
| OMIM:608091 | https://omim.org/ | JOUBERT SYNDROME 2; JBTS2 |
| OMIM:608099 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3 |
| OMIM:608133 | https://omim.org/ | RETINITIS PIGMENTOSA 7; RP7 |
| OMIM:608358 | https://omim.org/ | MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA |
| OMIM:608380 | https://omim.org/ | RETINITIS PIGMENTOSA 26; RP26 |
| OMIM:608393 | https://omim.org/ | MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6 |
| OMIM:608415 | https://omim.org/ | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS |
| OMIM:608423 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2 |
| OMIM:608540 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K |
| OMIM:608629 | https://omim.org/ | JOUBERT SYNDROME 3; JBTS3 |
| OMIM:608643 | https://omim.org/ | AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY |
| OMIM:608716 | https://omim.org/ | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 |
| OMIM:608804 | https://omim.org/ | LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 |
| OMIM:608807 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10 |
| OMIM:609033 | https://omim.org/ | POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1 |
| OMIM:609056 | https://omim.org/ | SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS |
| OMIM:609195 | https://omim.org/ | SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 |
| OMIM:609200 | https://omim.org/ | MYOPATHY, MYOFIBRILLAR, 3; MFM3 |
| OMIM:609260 | https://omim.org/ | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A |
| OMIM:609270 | https://omim.org/ | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 |
| OMIM:609304 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3 |
| OMIM:609524 | https://omim.org/ | MYOPATHY, MYOFIBRILLAR, 5; MFM5 |
| OMIM:609560 | https://omim.org/ | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 |
| OMIM:609923 | https://omim.org/ | RETINITIS PIGMENTOSA 31; RP31 |
| OMIM:610019 | https://omim.org/ | CATARACT 18; CTRCT18 |
| OMIM:610031 | https://omim.org/ | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7 |
| OMIM:610127 | https://omim.org/ | CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 |
| OMIM:610181 | https://omim.org/ | AICARDI-GOUTIERES SYNDROME 2; AGS2 |
| OMIM:610188 | https://omim.org/ | JOUBERT SYNDROME 5; JBTS5 |
| OMIM:610217 | https://omim.org/ | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B |
| OMIM:610329 | https://omim.org/ | AICARDI-GOUTIERES SYNDROME 3; AGS3 |
| OMIM:610333 | https://omim.org/ | AICARDI-GOUTIERES SYNDROME 4; AGS4 |
| OMIM:610359 | https://omim.org/ | RETINITIS PIGMENTOSA 33; RP33 |
| OMIM:610443 | https://omim.org/ | KOOLEN-DE VRIES SYNDROME; KDVS |
| OMIM:610444 | https://omim.org/ | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3 |
| OMIM:610489 | https://omim.org/ | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 |
| OMIM:610532 | https://omim.org/ | LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 |
| OMIM:610688 | https://omim.org/ | JOUBERT SYNDROME 6; JBTS6 |
| OMIM:610725 | https://omim.org/ | NEPHROTIC SYNDROME, TYPE 3; NPHS3 |
| OMIM:610951 | https://omim.org/ | CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 |
| OMIM:611091 | https://omim.org/ | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5 |
| OMIM:611302 | https://omim.org/ | SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2 |
| OMIM:611307 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12 |
| OMIM:611560 | https://omim.org/ | JOUBERT SYNDROME 7; JBTS7 |
| OMIM:611603 | https://omim.org/ | LISSENCEPHALY 3; LIS3 |
| OMIM:611705 | https://omim.org/ | SALIH MYOPATHY; SALMY |
| OMIM:611721 | https://omim.org/ | COMBINED SAPOSIN DEFICIENCY |
| OMIM:611726 | https://omim.org/ | EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 |
| OMIM:611755 | https://omim.org/ | LEBER CONGENITAL AMAUROSIS 10; LCA10 |
| OMIM:612015 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N |
| OMIM:612095 | https://omim.org/ | RETINITIS PIGMENTOSA 41; RP41 |
| OMIM:612126 | https://omim.org/ | GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 |
| OMIM:612285 | https://omim.org/ | JOUBERT SYNDROME 9; JBTS9 |
| OMIM:612337 | https://omim.org/ | MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22 |
| OMIM:612370 | https://omim.org/ | HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5 |
| OMIM:612438 | https://omim.org/ | LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 |
| OMIM:612528 | https://omim.org/ | DIAMOND-BLACKFAN ANEMIA 5; DBA5 |
| OMIM:612621 | https://omim.org/ | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 |
| OMIM:612712 | https://omim.org/ | LEBER CONGENITAL AMAUROSIS 13; LCA13 |
| OMIM:612716 | https://omim.org/ | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY |
| OMIM:612780 | https://omim.org/ | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES |
| OMIM:612936 | https://omim.org/ | SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 |
| OMIM:612943 | https://omim.org/ | RETINITIS PIGMENTOSA 42; RP42 |
| OMIM:612951 | https://omim.org/ | LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY |
| OMIM:613065 | https://omim.org/ | LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL |
| OMIM:613091 | https://omim.org/ | SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 |
| OMIM:613155 | https://omim.org/ | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1 |
| OMIM:613156 | https://omim.org/ | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2 |
| OMIM:613158 | https://omim.org/ | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2 |
| OMIM:613192 | https://omim.org/ | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13 |
| OMIM:613205 | https://omim.org/ | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED |
| OMIM:613216 | https://omim.org/ | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C |
| OMIM:613217 | https://omim.org/ | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5 |
| OMIM:613402 | https://omim.org/ | MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ |
| OMIM:613428 | https://omim.org/ | RETINITIS PIGMENTOSA 54; RP54 |
| OMIM:613454 | https://omim.org/ | RETT SYNDROME, CONGENITAL VARIANT |
| OMIM:613550 | https://omim.org/ | NEPHRONOPHTHISIS 11; NPHP11 |
| OMIM:613561 | https://omim.org/ | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2 |
| OMIM:613587 | https://omim.org/ | OCCULT MACULAR DYSTROPHY; OCMD |
| OMIM:613612 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I |
| OMIM:613660 | https://omim.org/ | CONE-ROD DYSTROPHY 15; CORD15 |
| OMIM:613668 | https://omim.org/ | MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY |
| OMIM:613680 | https://omim.org/ | BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS |
| OMIM:613684 | https://omim.org/ | RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 |
| OMIM:613690 | https://omim.org/ | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7 |
| OMIM:613706 | https://omim.org/ | NOONAN SYNDROME 7; NS7 |
| OMIM:613722 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12 |
| OMIM:613731 | https://omim.org/ | RETINITIS PIGMENTOSA 4; RP4 |
| OMIM:613744 | https://omim.org/ | SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51 |
| OMIM:613750 | https://omim.org/ | RETINITIS PIGMENTOSA 27; RP27 |
| OMIM:613756 | https://omim.org/ | RETINITIS PIGMENTOSA 49; RP49 |
| OMIM:613767 | https://omim.org/ | RETINITIS PIGMENTOSA 45; RP45 |
| OMIM:613794 | https://omim.org/ | RETINITIS PIGMENTOSA 20; RP20 |
| OMIM:613809 | https://omim.org/ | RETINITIS PIGMENTOSA 39; RP39 |
| OMIM:613810 | https://omim.org/ | RETINITIS PIGMENTOSA 43; RP43 |
| OMIM:613811 | https://omim.org/ | PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D |
| OMIM:613820 | https://omim.org/ | NEPHRONOPHTHISIS 12; NPHP12 |
| OMIM:613835 | https://omim.org/ | LEBER CONGENITAL AMAUROSIS 8; LCA8 |
| OMIM:613861 | https://omim.org/ | RETINITIS PIGMENTOSA 59; RP59 |
| OMIM:613862 | https://omim.org/ | RETINITIS PIGMENTOSA 38; RP38 |
| OMIM:614034 | https://omim.org/ | HEME OXYGENASE 1 DEFICIENCY; HMOX1D |
| OMIM:614065 | https://omim.org/ | MYOPATHY, DISTAL, 4; MPD4 |
| OMIM:614173 | https://omim.org/ | JOUBERT SYNDROME 13; JBTS13 |
| OMIM:614180 | https://omim.org/ | RETINITIS PIGMENTOSA 61; RP61 |
| OMIM:614181 | https://omim.org/ | RETINITIS PIGMENTOSA 62; RP62 |
| OMIM:614199 | https://omim.org/ | NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5 |
| OMIM:614202 | https://omim.org/ | RAFIQ SYNDROME; RAFQS |
| OMIM:614225 | https://omim.org/ | WARBURG MICRO SYNDROME 2; WARBM2 |
| OMIM:614254 | https://omim.org/ | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD |
| OMIM:614255 | https://omim.org/ | NESCAV SYNDROME; NESCAVS |
| OMIM:614299 | https://omim.org/ | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2 |
| OMIM:614381 | https://omim.org/ | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8 |
| OMIM:614424 | https://omim.org/ | JOUBERT SYNDROME 14; JBTS14 |
| OMIM:614500 | https://omim.org/ | CONE-ROD DYSTROPHY 16; CORD16 |
| OMIM:614557 | https://omim.org/ | EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2 |
| OMIM:614607 | https://omim.org/ | COFFIN-SIRIS SYNDROME 2; CSS2 |
| OMIM:614615 | https://omim.org/ | JOUBERT SYNDROME 17; JBTS17 |
| OMIM:614669 | https://omim.org/ | AURICULOCONDYLAR SYNDROME 2; ARCND2 |
| OMIM:614678 | https://omim.org/ | PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B |
| OMIM:614744 | https://omim.org/ | FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3 |
| OMIM:614753 | https://omim.org/ | SOTOS SYNDROME 2; SOTOS2 |
| OMIM:614831 | https://omim.org/ | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 |
| OMIM:614833 | https://omim.org/ | MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP |
| OMIM:614876 | https://omim.org/ | PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A |
| OMIM:614877 | https://omim.org/ | PEROXISOME BIOGENESIS DISORDER 8B; PBD8B |
| OMIM:614932 | https://omim.org/ | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 |
| OMIM:614945 | https://omim.org/ | DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B |
| OMIM:615030 | https://omim.org/ | SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56 |
| OMIM:615031 | https://omim.org/ | SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49 |
| OMIM:615065 | https://omim.org/ | ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D |
| OMIM:615071 | https://omim.org/ | ALAZAMI SYNDROME; ALAZS |
| OMIM:615095 | https://omim.org/ | MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10 |
| OMIM:615181 | https://omim.org/ | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 |
| OMIM:615190 | https://omim.org/ | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5 |
| OMIM:615191 | https://omim.org/ | LISSENCEPHALY 5; LIS5 |
| OMIM:615268 | https://omim.org/ | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 |
| OMIM:615286 | https://omim.org/ | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 |
| OMIM:615352 | https://omim.org/ | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14 |
| OMIM:615411 | https://omim.org/ | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3 |
| OMIM:615412 | https://omim.org/ | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4 |
| OMIM:615419 | https://omim.org/ | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 |
| OMIM:615471 | https://omim.org/ | MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13 |
| OMIM:615476 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18 |
| OMIM:615485 | https://omim.org/ | BAINBRIDGE-ROPERS SYNDROME; BRPS |
| OMIM:615502 | https://omim.org/ | MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 |
| OMIM:615546 | https://omim.org/ | VAN MALDERGEM SYNDROME 2; VMLDS2 |
| OMIM:615574 | https://omim.org/ | ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD |
| OMIM:615681 | https://omim.org/ | SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62 |
| OMIM:615715 | https://omim.org/ | BONE MARROW FAILURE SYNDROME 2; BMFS2 |
| OMIM:615716 | https://omim.org/ | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 |
| OMIM:615760 | https://omim.org/ | MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA |
| OMIM:615763 | https://omim.org/ | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5 |
| OMIM:615809 | https://omim.org/ | PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9 |
| OMIM:615829 | https://omim.org/ | XIA-GIBBS SYNDROME; XIGIS |
| OMIM:615834 | https://omim.org/ | MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26 |
| OMIM:615846 | https://omim.org/ | AICARDI-GOUTIERES SYNDROME 7; AGS7 |
| OMIM:615866 | https://omim.org/ | COFFIN-SIRIS SYNDROME 9; CSS9 |
| OMIM:615909 | https://omim.org/ | DIAMOND-BLACKFAN ANEMIA 13; DBA13 |
| OMIM:615948 | https://omim.org/ | OROFACIODIGITAL SYNDROME XIV; OFD14 |
| OMIM:615959 | https://omim.org/ | MYOPATHY, CENTRONUCLEAR, 5; CNM5 |
| OMIM:615960 | https://omim.org/ | PORETTI-BOLTSHAUSER SYNDROME; PTBHS |
| OMIM:615973 | https://omim.org/ | CONE-ROD DYSTROPHY 20; CORD20 |
| OMIM:615981 | https://omim.org/ | BARDET-BIEDL SYNDROME 2; BBS2 |
| OMIM:615982 | https://omim.org/ | BARDET-BIEDL SYNDROME 4; BBS4 |
| OMIM:615983 | https://omim.org/ | BARDET-BIEDL SYNDROME 5; BBS5 |
| OMIM:615993 | https://omim.org/ | BARDET-BIEDL SYNDROME 16; BBS16 |
| OMIM:616051 | https://omim.org/ | MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13 |
| OMIM:616056 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26 |
| OMIM:616081 | https://omim.org/ | PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C |
| OMIM:616094 | https://omim.org/ | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12 |
| OMIM:616127 | https://omim.org/ | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17 |
| OMIM:616140 | https://omim.org/ | LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9 |
| OMIM:616155 | https://omim.org/ | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S |
| OMIM:616171 | https://omim.org/ | MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 |
| OMIM:616199 | https://omim.org/ | POLYGLUCOSAN BODY MYOPATHY 2; PGBM2 |
| OMIM:616211 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28 |
| OMIM:616263 | https://omim.org/ | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD |
| OMIM:616266 | https://omim.org/ | CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD |
| OMIM:616271 | https://omim.org/ | 3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7 |
| OMIM:616277 | https://omim.org/ | MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D |
| OMIM:616281 | https://omim.org/ | NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM |
| OMIM:616321 | https://omim.org/ | MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A |
| OMIM:616354 | https://omim.org/ | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 |
| OMIM:616394 | https://omim.org/ | RETINITIS PIGMENTOSA 71; RP71 |
| OMIM:616420 | https://omim.org/ | LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10 |
| OMIM:616421 | https://omim.org/ | MYOCLONIC-ATONIC EPILEPSY; MAE |
| OMIM:616471 | https://omim.org/ | BETHLEM MYOPATHY 2; BTHLM2 |
| OMIM:616490 | https://omim.org/ | JOUBERT SYNDROME 23; JBTS23 |
| OMIM:616531 | https://omim.org/ | POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA |
| OMIM:616544 | https://omim.org/ | RETINITIS PIGMENTOSA 73; RP73 |
| OMIM:616562 | https://omim.org/ | RETINITIS PIGMENTOSA 74; RP74 |
| OMIM:616564 | https://omim.org/ | NOONAN SYNDROME 10; NS10 |
| OMIM:616632 | https://omim.org/ | SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS |
| OMIM:616647 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35 |
| OMIM:616649 | https://omim.org/ | SPHEROCYTOSIS, TYPE 2; SPH2 |
| OMIM:616651 | https://omim.org/ | ROIFMAN SYNDROME; RFMN |
| OMIM:616654 | https://omim.org/ | JOUBERT SYNDROME 24; JBTS24 |
| OMIM:616657 | https://omim.org/ | SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM |
| OMIM:616668 | https://omim.org/ | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X |
| OMIM:616683 | https://omim.org/ | LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12 |
| OMIM:616721 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N |
| OMIM:616732 | https://omim.org/ | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 |
| OMIM:616738 | https://omim.org/ | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 |
| OMIM:616740 | https://omim.org/ | IMMUNODEFICIENCY 46; IMD46 |
| OMIM:616789 | https://omim.org/ | MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD |
| OMIM:616801 | https://omim.org/ | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2 |
| OMIM:616875 | https://omim.org/ | CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR |
| OMIM:616892 | https://omim.org/ | NEPHROTIC SYNDROME, TYPE 12; NPHS12 |
| OMIM:616900 | https://omim.org/ | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3 |
| OMIM:616973 | https://omim.org/ | MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42 |
| OMIM:617011 | https://omim.org/ | MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR |
| OMIM:617013 | https://omim.org/ | HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2 |
| OMIM:617047 | https://omim.org/ | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26 |
| OMIM:617052 | https://omim.org/ | BONE MARROW FAILURE SYNDROME 3; BMFS3 |
| OMIM:617053 | https://omim.org/ | MIRAGE SYNDROME; MIRAGE |
| OMIM:617093 | https://omim.org/ | GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH |
| OMIM:617106 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42 |
| OMIM:617120 | https://omim.org/ | JOUBERT SYNDROME 27; JBTS27 |
| OMIM:617121 | https://omim.org/ | JOUBERT SYNDROME 28; JBTS28 |
| OMIM:617123 | https://omim.org/ | RETINITIS PIGMENTOSA 76; RP76 |
| OMIM:617137 | https://omim.org/ | FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2 |
| OMIM:617146 | https://omim.org/ | ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT |
| OMIM:617183 | https://omim.org/ | HAREL-YOON SYNDROME; HAYOS |
| OMIM:617193 | https://omim.org/ | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT |
| OMIM:617222 | https://omim.org/ | SUDDEN CARDIAC FAILURE, INFANTILE; SCFI |
| OMIM:617276 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48 |
| OMIM:617330 | https://omim.org/ | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS |
| OMIM:617350 | https://omim.org/ | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52 |
| OMIM:617397 | https://omim.org/ | PSEUDO-TORCH SYNDROME 2; PTORCH2 |
| OMIM:617433 | https://omim.org/ | RETINITIS PIGMENTOSA 78; RP78 |
| OMIM:617443 | https://omim.org/ | BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 |
| OMIM:617460 | https://omim.org/ | RETINITIS PIGMENTOSA 79; RP79 |
| OMIM:617481 | https://omim.org/ | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA |
| OMIM:617537 | https://omim.org/ | RAHMAN SYNDROME; RMNS |
| OMIM:617547 | https://omim.org/ | RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS |
| OMIM:617622 | https://omim.org/ | JOUBERT SYNDROME 30; JBTS30 |
| OMIM:617675 | https://omim.org/ | MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT |
| OMIM:617681 | https://omim.org/ | BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2 |
| OMIM:617694 | https://omim.org/ | AL KAISSI SYNDROME; ALKAS |
| OMIM:617781 | https://omim.org/ | RETINITIS PIGMENTOSA 80; RP80 |
| OMIM:617805 | https://omim.org/ | RENAL HYPODYSPLASIA/APLASIA 3; RHDA3 |
| OMIM:617807 | https://omim.org/ | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW |
| OMIM:617829 | https://omim.org/ | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2 |
| OMIM:617873 | https://omim.org/ | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35 |
| OMIM:617948 | https://omim.org/ | ELLIPTOCYTOSIS 3; EL3 |
| OMIM:617954 | https://omim.org/ | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6 |
| OMIM:618056 | https://omim.org/ | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS |
| OMIM:618088 | https://omim.org/ | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS |
| OMIM:618129 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4 |
| OMIM:618138 | https://omim.org/ | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 |
| OMIM:618174 | https://omim.org/ | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9 |
| OMIM:618225 | https://omim.org/ | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4 |
| OMIM:618273 | https://omim.org/ | MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM |
| OMIM:618316 | https://omim.org/ | INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF |
| OMIM:618325 | https://omim.org/ | LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9 |
| OMIM:618404 | https://omim.org/ | LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18 |
| OMIM:618512 | https://omim.org/ | O\'DONNELL-LURIA-RODAN SYNDROME; ODLURO |
| OMIM:614921 | https://omim.org/ | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T |
| MONDO:0005072 | http://purl.obolibrary.org/obo/mondo.owl | neuroblastoma |
| MONDO:0002749 | http://purl.obolibrary.org/obo/mondo.owl | extracranial neuroblastoma |
| MONDO:0008542 | http://purl.obolibrary.org/obo/mondo.owl | tetralogy of fallot |
| C3270 | http://purl.obolibrary.org/obo/ncit.owl | Neuroblastoma |
| C5437 | http://purl.obolibrary.org/obo/ncit.owl | Extracranial Neuroblastoma |
| C84505 | http://purl.obolibrary.org/obo/ncit.owl | Tetralogy of Fallot |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |