| UMLS CUI | UMLS Term |
Proteins |
C0700501 | Congenital Nystagmus |
AHR, ATF6 |
C0740340 | Amyloidosis, Familial |
FGA, TTR |
C0745103 | Hyperlipoproteinemia Type Iia |
ABCA1, GHR, APOA2, LDLR |
C0749794 | Upper Extremity Deformities, Congenital |
EZH2 |
C0751036 | Hereditary Motor And Sensory Neuropathy Type I |
PMP22 |
C0751038 | Cockayne Syndrome, Type Ii |
ERCC1 |
C0751039 | Cockayne Syndrome, Type I |
ERCC4 |
C0751083 | Duane Retraction Syndrome, Type 2 |
CHN1 |
C0751156 | Fraxa Syndrome |
FMR1 |
C0751157 | Fraxe Syndrome |
AFF2, SERPINA1 |
C0751161 | Udpglucose 4-Epimerase Deficiency Disease |
GALE |
C0751173 | Glycogen Storage Disease Type Ii, Infantile |
GAA |
C0751202 | Cystathionine Beta-Synthase Deficiency Disease |
CBS |
C0751208 | Juvenile Huntington Disease |
HTT |
C0751273 | Infantile Globoid Cell Leukodystrophy |
GALC, PSAP |
C0751276 | Metachromatic Leukodystrophy, Juvenile Type |
ARSA, PSAP |
C0751278 | Metachromatic Leukodystrophy, Infant |
ARSA |
C0751279 | Metachromatic Leukodystrophy, Adult-Type (Disorder) |
ARSA, PSAP |
C0751336 | Distal Muscular Dystrophies |
TTN, MATR3 |
C0751337 | X-Linked Emery-Dreifuss Muscular Dystrophy |
EMD, FHL1 |
C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis |
CLN3 |
C0751422 | Hereditary Autoinflammatory Diseases |
TNFAIP3 |
C0751617 | Semilobar Holoprosencephaly |
GAS1, GLI2, PTCH1, TDGF1, DISP1 |
C0751668 | Machado-Joseph Disease Type I |
ATXN3 |
C0751669 | Machado-Joseph Disease Type Ii |
ATXN3 |
C0751670 | Machado-Joseph Disease Type Iii |
ATXN3 |
C0751748 | Nonketotic Hyperglycinemia |
GCSH |
C0751783 | Lafora Disease |
EPM2A |
C0751785 | Unverricht-Lundborg Syndrome |
PRICKLE1, CSTB |
C0751870 | Heredodegenerative Disorders, Nervous System |
CYGB, FTL, NGB |
C0751915 | Pelizaeus-Merzbacher Disease, Atypical |
PLP1 |
C0751916 | Classic Pelizaeus-Merzbacher Disease |
PLP1 |
C0751917 | Pelizaeus-Merzbacher Disease, Transitional |
PLP1 |
C0752109 | Brain Diseases, Metabolic, Inborn |
FOLR1, NDUFAF2 |
C0752120 | Spinocerebellar Ataxia Type 1 |
ATXN1 |
C0752160 | Hemangioma, Cavernous, Central Nervous System |
CCM2, KRIT1 |
C0752166 | Bardet-Biedl Syndrome |
SDCCAG8, IFT27, TTC8, BBS12, NPHP1, MKS1, BBS7, BBS1, BBS2, BBS10, MKKS, BBIP1 |
C0795907 | Conotruncal Anomaly Face Syndrome |
COMT, GP1BB, TBX1, HIRA, UFD1L |
C0796147 | Acrocallosal Syndrome |
FOXG1, GLI3 |
C0848558 | Hypospadias |
MAMLD1, EXOC3, DGKK, GREM1, CCDC59, HOXA3, HSD3B2, KCNMA1, ZFHX3, ATF3, TAX1BP1 |
C0852077 | Blood Coagulation Disorders, Inherited |
MTHFR |
C0878677 | Glycogen Storage Disease Type Iib |
LAMP2 |
C0878681 | Dent'S Disease |
CLCN5 |
C0917713 | Becker Muscular Dystrophy |
DMD |
C0917715 | Hajdu-Cheney Syndrome |
NOTCH2 |
C0917796 | Optic Atrophy, Hereditary, Leber |
IL1A, IL1B |
C0917817 | Neurofibromatosis 3 |
NF2 |
C0936256 | Lysine Alpha-Ketoglutarate Reductase Deficiency Disease |
AASS |
C0949116 | Congenital Hypoplastic Anemia |
UMPS, CAD |
C0949595 | Gonadal Dysgenesis, 46,Xx |
FSHR, PSMC3IP, BMP15 |
C0949658 | Cardiomyopathy, Hypertrophic, Familial |
CRYAB, DES, DSG2, ANKRD1, LAMP2, TNNI3, TPM1, ACTN2, NEXN |
C0950121 | Denys-Drash Syndrome |
WT1 |
C0950122 | Frasier Syndrome |
WT1 |
C1136249 | Mental Retardation, X-Linked |
PQBP1, RAB39B, PTCHD1, AGTR2, GDI1, MAOA, ATRX, PCDH19, SLC6A8, CASK |
C1142166 | Brugada Syndrome (Disorder) |
TRPM4, CACNA1C, CACNA2D1, SLMAP |
C1148551 | X-Linked Dyskeratosis Congenita |
DKC1 |
C1260899 | Anemia, Diamond-Blackfan |
RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS26 |
C1264039 | Von Willebrand Disease, Type 1 |
VWF |
C1264040 | Von Willebrand Disease, Type 2 |
VWF |
C1264041 | Von Willebrand Disease, Type 3 |
VWF |
C1282968 | Von Willebrand Disease, Type 2A |
VWF |
C1282971 | Von Willebrand Disease, Type 2B |
VWF |
C1282974 | Von Willebrand Disease Type 2M |
VWF |
C1282975 | Von Willebrand Disease, Type 2N |
VWF |
C1306503 | Congenital Exomphalos |
CHRNA7, PCSK5 |
C1321489 | Torre-Muir Syndrome |
MSH6, MLH1, MSH2 |
C1328840 | Autoimmune Lymphoproliferative Syndrome |
FAS, NRAS, PRKCD, CASP8 |
C1333990 | Hereditary Nonpolyposis Colorectal Cancer |
MLH3, MSH6, KRAS, EPCAM, MLH1, MSH2, PIK3CA, PMS1, RPS20, BMPR1A, TGFBR2, LRRFIP2 |
C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 |
MLH1 |
C1449843 | Pseudohypoaldosteronism, Type I, Autosomal Recessive |
SCNN1A, SCNN1G |
C1449844 | Pseudohypoaldosteronism, Type Ii |
KLHL3, CUL3 |
C1450010 | Plagiocephaly, Nonsynostotic |
FGFR2 |
C1450051 | Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
LMNA |
C1510455 | Acrocephalosyndactylia |
FGFR2, TWIST1 |
C1510460 | Orofaciodigital Syndrome I |
OFD1 |
C1527338 | Hereditary Cerebral Amyloid Angiopathy, Icelandic Type |
CST3 |
C1563719 | Kallmann Syndrome 1 |
ANOS1 |
C1563720 | Kallmann Syndrome 2 (Disorder) |
FGFR1 |
C1567743 | Alport Syndrome, Autosomal Dominant |
COL4A3 |
C1567744 | Alport Syndrome, Autosomal Recessive |
COL4A3 |
C1568248 | Usher Syndrome, Type Iii |
HARS |
C1621920 | Intermediate Maple Syrup Urine Disease |
PPM1K, DBT, BCKDHA, BCKDHB |
C1704417 | Hyperlipoproteinemia Type Iib |
APOB |
C1704429 | Hypoalphalipoproteinemia, Familial |
ABCA1, APOA1 |
C1706595 | Pachyonychia Congenita, Jadassohn Lewandowsky Type |
KRT16 |
C1720864 | Sulfatidosis, Juvenile, Austin Type |
SUMF1 |
C1720958 | Hyper-Igm Immunodeficiency Syndrome, Type 5 |
UNG |
C1720965 | Ectodermal Dysplasia 3, Anhidrotic |
EDARADD |
C1721005 | Leukokeratosis, Hereditary Mucosal |
KRT13 |
C1721006 | Keratoderma, Palmoplantar, Epidermolytic |
KRT1, KRT9, KRT16 |
C1721007 | Pachyonychia Congenita, Type 2 (Disorder) |
KRT17 |
C1802395 | Congenital Muscular Hypertrophy-Cerebral Syndrome |
SMC1A |
C1833340 | Synostotic Posterior Plagiocephaly |
ERF |
C1836373 | Muscular Dystrophy, Limb-Girdle, Type 2K |
POMT1 |
C1836635 | Loeys-Dietz Aortic Aneurysm Syndrome |
TGFBR1 |
C1838244 | Tibial Muscular Dystrophy, Tardive |
TTN |
C1839259 | Bulbo-Spinal Atrophy, X-Linked |
AR |
C1845168 | Hypophosphatemic Rickets, X-Linked Recessive |
CLCN5 |
C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B |
CASP8 |
C1848201 | Subcortical Band Heterotopia |
EML1 |