NCPI FHIR Implementation Guide
0.2.0 - ci-build

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

ValueSet: Disease Codes

Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/disease-codes Version: 0.2.0
Draft as of 2022-11-28 Computable Name: DiseaseCodes

This value set includes all codes from this FHIR server’s representation of OMIM, Mondo and NICt CodeSystems.

References

Logical Definition (CLD)

This value set includes codes based on the following rules:

 

Expansion

This value set contains 504 concepts

CodeSystemDisplay
  OMIM:613801https://omim.org/Retinitis pigmentosa-40
  OMIM:213300https://omim.org/Joubert syndrome 1
  OMIM:615780https://omim.org/Retinitis pigmentosa 69
  OMIM:613826https://omim.org/Leber congenital amaurosis 6
  OMIM:310200https://omim.org/Duchenne muscular dystrophy
  OMIM:617194https://omim.org/Lethal congenital contracture syndrome 11
  OMIM:105400https://omim.org/AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
  OMIM:108120https://omim.org/ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A
  OMIM:114300https://omim.org/ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3
  OMIM:115195https://omim.org/CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
  OMIM:115196https://omim.org/CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
  OMIM:115197https://omim.org/CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
  OMIM:115200https://omim.org/CARDIOMYOPATHY, DILATED, 1A; CMD1A
  OMIM:117000https://omim.org/CENTRAL CORE DISEASE OF MUSCLE; CCD
  OMIM:117360https://omim.org/SPINOCEREBELLAR ATAXIA 29; SCA29
  OMIM:119530https://omim.org/OROFACIAL CLEFT 1; OFC1
  OMIM:122470https://omim.org/CORNELIA DE LANGE SYNDROME 1; CDLS1
  OMIM:130600https://omim.org/ELLIPTOCYTOSIS 2; EL2
  OMIM:135900https://omim.org/COFFIN-SIRIS SYNDROME 1; CSS1
  OMIM:136140https://omim.org/FLOATING-HARBOR SYNDROME; FLHS
  OMIM:137920https://omim.org/RENAL CYSTS AND DIABETES SYNDROME; RCAD
  OMIM:139090https://omim.org/GRAY PLATELET SYNDROME; GPS
  OMIM:139210https://omim.org/MYHRE SYNDROME; MYHRS
  OMIM:143095https://omim.org/SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD
  OMIM:143465https://omim.org/ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
  OMIM:147891https://omim.org/ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS
  OMIM:147920https://omim.org/KABUKI SYNDROME 1; KABUK1
  OMIM:148050https://omim.org/KBG SYNDROME; KBGS
  OMIM:149400https://omim.org/HYPEREKPLEXIA 1; HKPX1
  OMIM:152950https://omim.org/MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR
  OMIM:153670https://omim.org/BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
  OMIM:154400https://omim.org/ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
  OMIM:154700https://omim.org/MARFAN SYNDROME; MFS
  OMIM:155310https://omim.org/VISCERAL MYOPATHY; VSCM
  OMIM:158590https://omim.org/NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A
  OMIM:158810https://omim.org/BETHLEM MYOPATHY 1; BTHLM1
  OMIM:159550https://omim.org/ATAXIA-PANCYTOPENIA SYNDROME; ATXPC
  OMIM:160150https://omim.org/MYOPATHY, CENTRONUCLEAR, 1; CNM1
  OMIM:160500https://omim.org/MYOPATHY, DISTAL, 1; MPD1
  OMIM:160800https://omim.org/MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
  OMIM:160900https://omim.org/MYOTONIC DYSTROPHY 1; DM1
  OMIM:161800https://omim.org/NEMALINE MYOPATHY 3; NEM3
  OMIM:163950https://omim.org/NOONAN SYNDROME 1; NS1
  OMIM:178110https://omim.org/CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A
  OMIM:178500https://omim.org/PULMONARY FIBROSIS, IDIOPATHIC; IPF
  OMIM:180100https://omim.org/RETINITIS PIGMENTOSA 1; RP1
  OMIM:180849https://omim.org/RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
  OMIM:181430https://omim.org/SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM
  OMIM:182601https://omim.org/SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
  OMIM:188000https://omim.org/THROMBOCYTOPENIA 2; THC2
  OMIM:191480https://omim.org/UNCOMBABLE HAIR SYNDROME 1; UHS1
  OMIM:203800https://omim.org/ALSTROM SYNDROME; ALMS
  OMIM:204200https://omim.org/CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
  OMIM:204500https://omim.org/CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
  OMIM:205100https://omim.org/AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
  OMIM:206900https://omim.org/MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
  OMIM:208900https://omim.org/ATAXIA-TELANGIECTASIA; AT
  OMIM:209850https://omim.org/AUTISM
  OMIM:209900https://omim.org/BARDET-BIEDL SYNDROME 1; BBS1
  OMIM:210000https://omim.org/BEHR SYNDROME; BEHRS
  OMIM:210720https://omim.org/MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2
  OMIM:210900https://omim.org/BLOOM SYNDROME; BLM
  OMIM:212065https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
  OMIM:212066https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
  OMIM:214500https://omim.org/CHEDIAK-HIGASHI SYNDROME; CHS
  OMIM:214800https://omim.org/CHARGE SYNDROME
  OMIM:215500https://omim.org/CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1
  OMIM:216400https://omim.org/COCKAYNE SYNDROME A; CSA
  OMIM:216550https://omim.org/COHEN SYNDROME; COH1
  OMIM:217080https://omim.org/JALILI SYNDROME
  OMIM:217980https://omim.org/CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
  OMIM:218340https://omim.org/TEMTAMY SYNDROME; TEMTYS
  OMIM:219200https://omim.org/CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
  OMIM:224050https://omim.org/CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
  OMIM:224690https://omim.org/MEIER-GORLIN SYNDROME 1; MGORS1
  OMIM:225753https://omim.org/PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4
  OMIM:225790https://omim.org/PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH
  OMIM:227650https://omim.org/FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
  OMIM:229600https://omim.org/FRUCTOSE INTOLERANCE, HEREDITARY; HFI
  OMIM:230000https://omim.org/FUCOSIDOSIS
  OMIM:230500https://omim.org/GM1-GANGLIOSIDOSIS, TYPE I
  OMIM:232300https://omim.org/GLYCOGEN STORAGE DISEASE II; GSD2
  OMIM:232600https://omim.org/GLYCOGEN STORAGE DISEASE V; GSD5
  OMIM:234200https://omim.org/NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
  OMIM:234500https://omim.org/HARTNUP DISORDER; HND
  OMIM:236000https://omim.org/LYMPHOMA, HODGKIN, CLASSIC; CHL
  OMIM:236600https://omim.org/HYDROCEPHALUS, CONGENITAL, 1; HYC1
  OMIM:236792https://omim.org/L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA
  OMIM:243310https://omim.org/BARAITSER-WINTER SYNDROME 1; BRWS1
  OMIM:244450https://omim.org/KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS
  OMIM:245200https://omim.org/KRABBE DISEASE
  OMIM:245359https://omim.org/missing
  OMIM:248200https://omim.org/STARGARDT DISEASE 1; STGD1
  OMIM:248700https://omim.org/MARDEN-WALKER SYNDROME; MWKS
  OMIM:249000https://omim.org/MECKEL SYNDROME, TYPE 1; MKS1
  OMIM:249900https://omim.org/METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
  OMIM:250100https://omim.org/METACHROMATIC LEUKODYSTROPHY; MLD
  OMIM:250620https://omim.org/3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD
  OMIM:251200https://omim.org/MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1
  OMIM:251260https://omim.org/NIJMEGEN BREAKAGE SYNDROME; NBS
  OMIM:251280https://omim.org/DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1
  OMIM:251290https://omim.org/PSEUDO-TORCH SYNDROME 1; PTORCH1
  OMIM:251300https://omim.org/GALLOWAY-MOWAT SYNDROME 1; GAMOS1
  OMIM:252010https://omim.org/MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1
  OMIM:252160https://omim.org/MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB
  OMIM:252920https://omim.org/MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
  OMIM:253250https://omim.org/MULIBREY NANISM
  OMIM:253600https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1
  OMIM:253601https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2
  OMIM:253700https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5
  OMIM:254090https://omim.org/ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1
  OMIM:254110https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8
  OMIM:254300https://omim.org/MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10
  OMIM:254780https://omim.org/MYOCLONIC EPILEPSY OF LAFORA
  OMIM:254940https://omim.org/CAREY-FINEMAN-ZITER SYNDROME; CFZS
  OMIM:255310https://omim.org/MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
  OMIM:255320https://omim.org/MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  OMIM:255800https://omim.org/SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
  OMIM:256000https://omim.org/LEIGH SYNDROME; LS
  OMIM:256300https://omim.org/NEPHROTIC SYNDROME, TYPE 1; NPHS1
  OMIM:256600https://omim.org/NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
  OMIM:256700https://omim.org/NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1
  OMIM:256730https://omim.org/CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
  OMIM:256731https://omim.org/CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
  OMIM:256800https://omim.org/INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
  OMIM:256850https://omim.org/GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1
  OMIM:257220https://omim.org/NIEMANN-PICK DISEASE, TYPE C1; NPC1
  OMIM:257320https://omim.org/LISSENCEPHALY 2; LIS2
  OMIM:260400https://omim.org/SHWACHMAN-DIAMOND SYNDROME 1; SDS1
  OMIM:260565https://omim.org/PEHO SYNDROME; PEHO
  OMIM:261630https://omim.org/HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C
  OMIM:262500https://omim.org/LARON SYNDROME
  OMIM:263200https://omim.org/POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4
  OMIM:265000https://omim.org/MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS
  OMIM:266100https://omim.org/EPILEPSY, PYRIDOXINE-DEPENDENT; EPD
  OMIM:266265https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
  OMIM:266500https://omim.org/REFSUM DISEASE, CLASSIC
  OMIM:266510https://omim.org/PEROXISOME BIOGENESIS DISORDER 3B; PBD3B
  OMIM:268800https://omim.org/SANDHOFF DISEASE
  OMIM:270200https://omim.org/SJOGREN-LARSSON SYNDROME; SLS
  OMIM:270800https://omim.org/SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
  OMIM:271900https://omim.org/CANAVAN DISEASE
  OMIM:272800https://omim.org/TAY-SACHS DISEASE; TSD
  OMIM:273300https://omim.org/TESTICULAR GERM CELL TUMOR; TGCT
  OMIM:274000https://omim.org/THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
  OMIM:276901https://omim.org/USHER SYNDROME, TYPE IIA; USH2A
  OMIM:277470https://omim.org/PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
  OMIM:300029https://omim.org/RETINITIS PIGMENTOSA 3; RP3
  OMIM:300067https://omim.org/LISSENCEPHALY, X-LINKED, 1; LISX1
  OMIM:300088https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9
  OMIM:300100https://omim.org/ADRENOLEUKODYSTROPHY; ALD
  OMIM:300376https://omim.org/MUSCULAR DYSTROPHY, BECKER TYPE; BMD
  OMIM:300387https://omim.org/MENTAL RETARDATION, X-LINKED 63; MRX63
  OMIM:300476https://omim.org/CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
  OMIM:300486https://omim.org/MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
  OMIM:300495https://omim.org/AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
  OMIM:300523https://omim.org/ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
  OMIM:300534https://omim.org/MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ
  OMIM:300695https://omim.org/SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM
  OMIM:300749https://omim.org/MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH
  OMIM:300804https://omim.org/JOUBERT SYNDROME 10; JBTS10
  OMIM:300881https://omim.org/MOVED TO 615777
  OMIM:300882https://omim.org/CORNELIA DE LANGE SYNDROME 5; CDLS5
  OMIM:300894https://omim.org/NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
  OMIM:300908https://omim.org/ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
  OMIM:300957https://omim.org/MENTAL RETARDATION, X-LINKED 12; MRX12
  OMIM:300958https://omim.org/INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB
  OMIM:300966https://omim.org/MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33
  OMIM:300968https://omim.org/MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F
  OMIM:300983https://omim.org/MENTAL RETARDATION, X-LINKED 104; MRX104
  OMIM:300986https://omim.org/MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB
  OMIM:301050https://omim.org/ALPORT SYNDROME 1, X-LINKED; ATS1
  OMIM:301310https://omim.org/ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT
  OMIM:304340https://omim.org/PETTIGREW SYNDROME; PGS
  OMIM:305100https://omim.org/ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
  OMIM:308350https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1
  OMIM:309500https://omim.org/RENPENNING SYNDROME 1; RENS1
  OMIM:309541https://omim.org/METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
  OMIM:309580https://omim.org/MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
  OMIM:310468https://omim.org/NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
  OMIM:311070https://omim.org/CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
  OMIM:313850https://omim.org/THORACOABDOMINAL SYNDROME; THAS
  OMIM:314580https://omim.org/WIEACKER-WOLFF SYNDROME; WRWF
  OMIM:600059https://omim.org/RETINITIS PIGMENTOSA 13; RP13
  OMIM:600105https://omim.org/RETINITIS PIGMENTOSA 12; RP12
  OMIM:600118https://omim.org/WARBURG MICRO SYNDROME 1; WARBM1
  OMIM:600132https://omim.org/RETINITIS PIGMENTOSA 14; RP14
  OMIM:600138https://omim.org/RETINITIS PIGMENTOSA 11; RP11
  OMIM:600143https://omim.org/CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
  OMIM:600334https://omim.org/TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD
  OMIM:600373https://omim.org/CODAS SYNDROME
  OMIM:600618https://omim.org/ETS VARIANT GENE 6; ETV6
  OMIM:600995https://omim.org/NEPHROTIC SYNDROME, TYPE 2; NPHS2
  OMIM:601088https://omim.org/AYME-GRIPP SYNDROME; AYGRP
  OMIM:601414https://omim.org/RETINITIS PIGMENTOSA 18; RP18
  OMIM:601419https://omim.org/MYOPATHY, MYOFIBRILLAR, 1; MFM1
  OMIM:601680https://omim.org/ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1
  OMIM:601718https://omim.org/RETINITIS PIGMENTOSA 19; RP19
  OMIM:601780https://omim.org/CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6
  OMIM:601815https://omim.org/PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
  OMIM:601954https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7
  OMIM:602482https://omim.org/AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3
  OMIM:602579https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
  OMIM:602772https://omim.org/RETINITIS PIGMENTOSA 25; RP25
  OMIM:603511https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1
  OMIM:603896https://omim.org/LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
  OMIM:604004https://omim.org/MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1
  OMIM:604116https://omim.org/CONE-ROD DYSTROPHY 3; CORD3
  OMIM:604273https://omim.org/MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1
  OMIM:604286https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4
  OMIM:604317https://omim.org/MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2
  OMIM:604360https://omim.org/SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11
  OMIM:604387https://omim.org/NEPHRONOPHTHISIS 3; NPHP3
  OMIM:604537https://omim.org/LEBER CONGENITAL AMAUROSIS 5; LCA5
  OMIM:604592https://omim.org/T CELL IMMUNE REGULATOR 1; TCIRG1
  OMIM:605130https://omim.org/WIEDEMANN-STEINER SYNDROME; WDSTS
  OMIM:605355https://omim.org/NEMALINE MYOPATHY 5; NEM5
  OMIM:605407https://omim.org/SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
  OMIM:605637https://omim.org/MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP
  OMIM:605670https://omim.org/LATE-ONSET RETINAL DEGENERATION; LORD
  OMIM:605820https://omim.org/NONAKA MYOPATHY; NM
  OMIM:605899https://omim.org/GLYCINE ENCEPHALOPATHY; GCE
  OMIM:606068https://omim.org/RETINITIS PIGMENTOSA 28; RP28
  OMIM:606170https://omim.org/GENITOPATELLAR SYNDROME; GTPTS
  OMIM:606232https://omim.org/PHELAN-MCDERMID SYNDROME; PHMDS
  OMIM:606777https://omim.org/GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
  OMIM:606854https://omim.org/POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP
  OMIM:606966https://omim.org/NEPHRONOPHTHISIS 4; NPHP4
  OMIM:606996https://omim.org/SENIOR-LOKEN SYNDROME 4; SLSN4
  OMIM:607015https://omim.org/HURLER-SCHEIE SYNDROME
  OMIM:607155https://omim.org/MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5
  OMIM:607196https://omim.org/MICROCEPHALY, AMISH TYPE; MCPHA
  OMIM:607225https://omim.org/SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
  OMIM:607426https://omim.org/COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1
  OMIM:607432https://omim.org/LISSENCEPHALY 1; LIS1
  OMIM:607483https://omim.org/THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2
  OMIM:607595https://omim.org/MOVED TO 175780
  OMIM:607596https://omim.org/PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A
  OMIM:607855https://omim.org/MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
  OMIM:608027https://omim.org/PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3
  OMIM:608091https://omim.org/JOUBERT SYNDROME 2; JBTS2
  OMIM:608099https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3
  OMIM:608133https://omim.org/RETINITIS PIGMENTOSA 7; RP7
  OMIM:608358https://omim.org/MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA
  OMIM:608380https://omim.org/RETINITIS PIGMENTOSA 26; RP26
  OMIM:608393https://omim.org/MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
  OMIM:608415https://omim.org/PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS
  OMIM:608423https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2
  OMIM:608540https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
  OMIM:608629https://omim.org/JOUBERT SYNDROME 3; JBTS3
  OMIM:608643https://omim.org/AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
  OMIM:608716https://omim.org/MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
  OMIM:608804https://omim.org/LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2
  OMIM:608807https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10
  OMIM:609033https://omim.org/POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1
  OMIM:609056https://omim.org/SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS
  OMIM:609195https://omim.org/SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26
  OMIM:609200https://omim.org/MYOPATHY, MYOFIBRILLAR, 3; MFM3
  OMIM:609260https://omim.org/CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A
  OMIM:609270https://omim.org/SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7
  OMIM:609304https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3
  OMIM:609524https://omim.org/MYOPATHY, MYOFIBRILLAR, 5; MFM5
  OMIM:609560https://omim.org/MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2
  OMIM:609923https://omim.org/RETINITIS PIGMENTOSA 31; RP31
  OMIM:610019https://omim.org/CATARACT 18; CTRCT18
  OMIM:610031https://omim.org/CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7
  OMIM:610127https://omim.org/CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
  OMIM:610181https://omim.org/AICARDI-GOUTIERES SYNDROME 2; AGS2
  OMIM:610188https://omim.org/JOUBERT SYNDROME 5; JBTS5
  OMIM:610217https://omim.org/NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B
  OMIM:610329https://omim.org/AICARDI-GOUTIERES SYNDROME 3; AGS3
  OMIM:610333https://omim.org/AICARDI-GOUTIERES SYNDROME 4; AGS4
  OMIM:610359https://omim.org/RETINITIS PIGMENTOSA 33; RP33
  OMIM:610443https://omim.org/KOOLEN-DE VRIES SYNDROME; KDVS
  OMIM:610444https://omim.org/NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3
  OMIM:610489https://omim.org/PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
  OMIM:610532https://omim.org/LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5
  OMIM:610688https://omim.org/JOUBERT SYNDROME 6; JBTS6
  OMIM:610725https://omim.org/NEPHROTIC SYNDROME, TYPE 3; NPHS3
  OMIM:610951https://omim.org/CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
  OMIM:611091https://omim.org/MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
  OMIM:611302https://omim.org/SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2
  OMIM:611307https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12
  OMIM:611560https://omim.org/JOUBERT SYNDROME 7; JBTS7
  OMIM:611603https://omim.org/LISSENCEPHALY 3; LIS3
  OMIM:611705https://omim.org/SALIH MYOPATHY; SALMY
  OMIM:611721https://omim.org/COMBINED SAPOSIN DEFICIENCY
  OMIM:611726https://omim.org/EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3
  OMIM:611755https://omim.org/LEBER CONGENITAL AMAUROSIS 10; LCA10
  OMIM:612015https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
  OMIM:612095https://omim.org/RETINITIS PIGMENTOSA 41; RP41
  OMIM:612126https://omim.org/GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2
  OMIM:612285https://omim.org/JOUBERT SYNDROME 9; JBTS9
  OMIM:612337https://omim.org/MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22
  OMIM:612370https://omim.org/HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5
  OMIM:612438https://omim.org/LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6
  OMIM:612528https://omim.org/DIAMOND-BLACKFAN ANEMIA 5; DBA5
  OMIM:612621https://omim.org/MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
  OMIM:612712https://omim.org/LEBER CONGENITAL AMAUROSIS 13; LCA13
  OMIM:612716https://omim.org/DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
  OMIM:612780https://omim.org/SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES
  OMIM:612936https://omim.org/SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50
  OMIM:612943https://omim.org/RETINITIS PIGMENTOSA 42; RP42
  OMIM:612951https://omim.org/LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
  OMIM:613065https://omim.org/LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
  OMIM:613091https://omim.org/SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
  OMIM:613155https://omim.org/MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1
  OMIM:613156https://omim.org/MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2
  OMIM:613158https://omim.org/MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2
  OMIM:613192https://omim.org/MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
  OMIM:613205https://omim.org/MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
  OMIM:613216https://omim.org/NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C
  OMIM:613217https://omim.org/DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5
  OMIM:613402https://omim.org/MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ
  OMIM:613428https://omim.org/RETINITIS PIGMENTOSA 54; RP54
  OMIM:613454https://omim.org/RETT SYNDROME, CONGENITAL VARIANT
  OMIM:613550https://omim.org/NEPHRONOPHTHISIS 11; NPHP11
  OMIM:613561https://omim.org/MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2
  OMIM:613587https://omim.org/OCCULT MACULAR DYSTROPHY; OCMD
  OMIM:613612https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I
  OMIM:613660https://omim.org/CONE-ROD DYSTROPHY 15; CORD15
  OMIM:613668https://omim.org/MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
  OMIM:613680https://omim.org/BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS
  OMIM:613684https://omim.org/RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
  OMIM:613690https://omim.org/CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7
  OMIM:613706https://omim.org/NOONAN SYNDROME 7; NS7
  OMIM:613722https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12
  OMIM:613731https://omim.org/RETINITIS PIGMENTOSA 4; RP4
  OMIM:613744https://omim.org/SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51
  OMIM:613750https://omim.org/RETINITIS PIGMENTOSA 27; RP27
  OMIM:613756https://omim.org/RETINITIS PIGMENTOSA 49; RP49
  OMIM:613767https://omim.org/RETINITIS PIGMENTOSA 45; RP45
  OMIM:613794https://omim.org/RETINITIS PIGMENTOSA 20; RP20
  OMIM:613809https://omim.org/RETINITIS PIGMENTOSA 39; RP39
  OMIM:613810https://omim.org/RETINITIS PIGMENTOSA 43; RP43
  OMIM:613811https://omim.org/PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
  OMIM:613820https://omim.org/NEPHRONOPHTHISIS 12; NPHP12
  OMIM:613835https://omim.org/LEBER CONGENITAL AMAUROSIS 8; LCA8
  OMIM:613861https://omim.org/RETINITIS PIGMENTOSA 59; RP59
  OMIM:613862https://omim.org/RETINITIS PIGMENTOSA 38; RP38
  OMIM:614034https://omim.org/HEME OXYGENASE 1 DEFICIENCY; HMOX1D
  OMIM:614065https://omim.org/MYOPATHY, DISTAL, 4; MPD4
  OMIM:614173https://omim.org/JOUBERT SYNDROME 13; JBTS13
  OMIM:614180https://omim.org/RETINITIS PIGMENTOSA 61; RP61
  OMIM:614181https://omim.org/RETINITIS PIGMENTOSA 62; RP62
  OMIM:614199https://omim.org/NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5
  OMIM:614202https://omim.org/RAFIQ SYNDROME; RAFQS
  OMIM:614225https://omim.org/WARBURG MICRO SYNDROME 2; WARBM2
  OMIM:614254https://omim.org/NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD
  OMIM:614255https://omim.org/NESCAV SYNDROME; NESCAVS
  OMIM:614299https://omim.org/MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2
  OMIM:614381https://omim.org/LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
  OMIM:614424https://omim.org/JOUBERT SYNDROME 14; JBTS14
  OMIM:614500https://omim.org/CONE-ROD DYSTROPHY 16; CORD16
  OMIM:614557https://omim.org/EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2
  OMIM:614607https://omim.org/COFFIN-SIRIS SYNDROME 2; CSS2
  OMIM:614615https://omim.org/JOUBERT SYNDROME 17; JBTS17
  OMIM:614669https://omim.org/AURICULOCONDYLAR SYNDROME 2; ARCND2
  OMIM:614678https://omim.org/PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B
  OMIM:614744https://omim.org/FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3
  OMIM:614753https://omim.org/SOTOS SYNDROME 2; SOTOS2
  OMIM:614831https://omim.org/SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13
  OMIM:614833https://omim.org/MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP
  OMIM:614876https://omim.org/PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A
  OMIM:614877https://omim.org/PEROXISOME BIOGENESIS DISORDER 8B; PBD8B
  OMIM:614932https://omim.org/COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
  OMIM:614945https://omim.org/DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
  OMIM:615030https://omim.org/SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56
  OMIM:615031https://omim.org/SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49
  OMIM:615065https://omim.org/ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D
  OMIM:615071https://omim.org/ALAZAMI SYNDROME; ALAZS
  OMIM:615095https://omim.org/MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10
  OMIM:615181https://omim.org/MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11
  OMIM:615190https://omim.org/DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5
  OMIM:615191https://omim.org/LISSENCEPHALY 5; LIS5
  OMIM:615268https://omim.org/CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4
  OMIM:615286https://omim.org/MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
  OMIM:615352https://omim.org/MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14
  OMIM:615411https://omim.org/CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3
  OMIM:615412https://omim.org/CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4
  OMIM:615419https://omim.org/HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1
  OMIM:615471https://omim.org/MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13
  OMIM:615476https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18
  OMIM:615485https://omim.org/BAINBRIDGE-ROPERS SYNDROME; BRPS
  OMIM:615502https://omim.org/MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21
  OMIM:615546https://omim.org/VAN MALDERGEM SYNDROME 2; VMLDS2
  OMIM:615574https://omim.org/ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD
  OMIM:615681https://omim.org/SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62
  OMIM:615715https://omim.org/BONE MARROW FAILURE SYNDROME 2; BMFS2
  OMIM:615716https://omim.org/HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4
  OMIM:615760https://omim.org/MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA
  OMIM:615763https://omim.org/CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5
  OMIM:615809https://omim.org/PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9
  OMIM:615829https://omim.org/XIA-GIBBS SYNDROME; XIGIS
  OMIM:615834https://omim.org/MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26
  OMIM:615846https://omim.org/AICARDI-GOUTIERES SYNDROME 7; AGS7
  OMIM:615866https://omim.org/COFFIN-SIRIS SYNDROME 9; CSS9
  OMIM:615909https://omim.org/DIAMOND-BLACKFAN ANEMIA 13; DBA13
  OMIM:615948https://omim.org/OROFACIODIGITAL SYNDROME XIV; OFD14
  OMIM:615959https://omim.org/MYOPATHY, CENTRONUCLEAR, 5; CNM5
  OMIM:615960https://omim.org/PORETTI-BOLTSHAUSER SYNDROME; PTBHS
  OMIM:615973https://omim.org/CONE-ROD DYSTROPHY 20; CORD20
  OMIM:615981https://omim.org/BARDET-BIEDL SYNDROME 2; BBS2
  OMIM:615982https://omim.org/BARDET-BIEDL SYNDROME 4; BBS4
  OMIM:615983https://omim.org/BARDET-BIEDL SYNDROME 5; BBS5
  OMIM:615993https://omim.org/BARDET-BIEDL SYNDROME 16; BBS16
  OMIM:616051https://omim.org/MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13
  OMIM:616056https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26
  OMIM:616081https://omim.org/PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C
  OMIM:616094https://omim.org/MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12
  OMIM:616127https://omim.org/SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17
  OMIM:616140https://omim.org/LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9
  OMIM:616155https://omim.org/CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S
  OMIM:616171https://omim.org/MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2
  OMIM:616199https://omim.org/POLYGLUCOSAN BODY MYOPATHY 2; PGBM2
  OMIM:616211https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28
  OMIM:616263https://omim.org/NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD
  OMIM:616266https://omim.org/CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
  OMIM:616271https://omim.org/3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7
  OMIM:616277https://omim.org/MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D
  OMIM:616281https://omim.org/NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM
  OMIM:616321https://omim.org/MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A
  OMIM:616354https://omim.org/SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20
  OMIM:616394https://omim.org/RETINITIS PIGMENTOSA 71; RP71
  OMIM:616420https://omim.org/LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10
  OMIM:616421https://omim.org/MYOCLONIC-ATONIC EPILEPSY; MAE
  OMIM:616471https://omim.org/BETHLEM MYOPATHY 2; BTHLM2
  OMIM:616490https://omim.org/JOUBERT SYNDROME 23; JBTS23
  OMIM:616531https://omim.org/POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA
  OMIM:616544https://omim.org/RETINITIS PIGMENTOSA 73; RP73
  OMIM:616562https://omim.org/RETINITIS PIGMENTOSA 74; RP74
  OMIM:616564https://omim.org/NOONAN SYNDROME 10; NS10
  OMIM:616632https://omim.org/SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS
  OMIM:616647https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35
  OMIM:616649https://omim.org/SPHEROCYTOSIS, TYPE 2; SPH2
  OMIM:616651https://omim.org/ROIFMAN SYNDROME; RFMN
  OMIM:616654https://omim.org/JOUBERT SYNDROME 24; JBTS24
  OMIM:616657https://omim.org/SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM
  OMIM:616668https://omim.org/CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X
  OMIM:616683https://omim.org/LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12
  OMIM:616721https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N
  OMIM:616732https://omim.org/OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10
  OMIM:616738https://omim.org/RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2
  OMIM:616740https://omim.org/IMMUNODEFICIENCY 46; IMD46
  OMIM:616789https://omim.org/MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD
  OMIM:616801https://omim.org/HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2
  OMIM:616875https://omim.org/CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR
  OMIM:616892https://omim.org/NEPHROTIC SYNDROME, TYPE 12; NPHS12
  OMIM:616900https://omim.org/HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3
  OMIM:616973https://omim.org/MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42
  OMIM:617011https://omim.org/MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
  OMIM:617013https://omim.org/HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2
  OMIM:617047https://omim.org/CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26
  OMIM:617052https://omim.org/BONE MARROW FAILURE SYNDROME 3; BMFS3
  OMIM:617053https://omim.org/MIRAGE SYNDROME; MIRAGE
  OMIM:617093https://omim.org/GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH
  OMIM:617106https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
  OMIM:617120https://omim.org/JOUBERT SYNDROME 27; JBTS27
  OMIM:617121https://omim.org/JOUBERT SYNDROME 28; JBTS28
  OMIM:617123https://omim.org/RETINITIS PIGMENTOSA 76; RP76
  OMIM:617137https://omim.org/FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2
  OMIM:617146https://omim.org/ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT
  OMIM:617183https://omim.org/HAREL-YOON SYNDROME; HAYOS
  OMIM:617193https://omim.org/ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT
  OMIM:617222https://omim.org/SUDDEN CARDIAC FAILURE, INFANTILE; SCFI
  OMIM:617276https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48
  OMIM:617330https://omim.org/HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS
  OMIM:617350https://omim.org/DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52
  OMIM:617397https://omim.org/PSEUDO-TORCH SYNDROME 2; PTORCH2
  OMIM:617433https://omim.org/RETINITIS PIGMENTOSA 78; RP78
  OMIM:617443https://omim.org/BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21
  OMIM:617460https://omim.org/RETINITIS PIGMENTOSA 79; RP79
  OMIM:617481https://omim.org/NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA
  OMIM:617537https://omim.org/RAHMAN SYNDROME; RMNS
  OMIM:617547https://omim.org/RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS
  OMIM:617622https://omim.org/JOUBERT SYNDROME 30; JBTS30
  OMIM:617675https://omim.org/MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT
  OMIM:617681https://omim.org/BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2
  OMIM:617694https://omim.org/AL KAISSI SYNDROME; ALKAS
  OMIM:617781https://omim.org/RETINITIS PIGMENTOSA 80; RP80
  OMIM:617805https://omim.org/RENAL HYPODYSPLASIA/APLASIA 3; RHDA3
  OMIM:617807https://omim.org/NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW
  OMIM:617829https://omim.org/EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2
  OMIM:617873https://omim.org/COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35
  OMIM:617948https://omim.org/ELLIPTOCYTOSIS 3; EL3
  OMIM:617954https://omim.org/MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6
  OMIM:618056https://omim.org/NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS
  OMIM:618088https://omim.org/NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS
  OMIM:618129https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4
  OMIM:618138https://omim.org/MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23
  OMIM:618174https://omim.org/CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9
  OMIM:618225https://omim.org/MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4
  OMIM:618273https://omim.org/MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM
  OMIM:618316https://omim.org/INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF
  OMIM:618325https://omim.org/LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9
  OMIM:618404https://omim.org/LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18
  OMIM:618512https://omim.org/O\'DONNELL-LURIA-RODAN SYNDROME; ODLURO
  OMIM:614921https://omim.org/CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T
  MONDO:0005072http://purl.obolibrary.org/obo/mondo.owlneuroblastoma
  MONDO:0002749http://purl.obolibrary.org/obo/mondo.owlextracranial neuroblastoma
  MONDO:0008542http://purl.obolibrary.org/obo/mondo.owltetralogy of fallot
  C3270http://purl.obolibrary.org/obo/ncit.owlNeuroblastoma
  C5437http://purl.obolibrary.org/obo/ncit.owlExtracranial Neuroblastoma
  C84505http://purl.obolibrary.org/obo/ncit.owlTetralogy 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