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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Diastema (D003970)
Parent Node: Hypospadias (D007021)
..Starting node ..Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262)
Child Nodes:
Sister Nodes:
..Anal Atresia, Hypospadias, and Penoscrotal Inversion (C566526)
..Hypertelorism with esophageal abnormality and hypospadias (C538387)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Hypospadias 3, Autosomal (C567191)
..HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO (OMIM:300856)
..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Naguib-Richieri-Costa syndrome (C538332)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262)
..Radius absent anogenital anomalies (C535281)
..Scalp ear nipple syndrome (C536623)
..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
..Stratton-Parker Syndrome (C566105)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9563
Name:	Radial hypoplasia, triphalangeal thumbs and hypospadias
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D003970\|MESH:D007021
TreeNumbers:	C07.793.494.466/C536262 \|C12.294.494.400/C536262 \|C12.706.516/C536262 \|C13.351.875.466/C536262 \|C16.131.077/C536262 \|C16.131.939.516/C536262
Synonyms:	Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema \|Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema \|Schmitt Gillenwater Kelly syndrome
Slim Mappings:	Congenital abnormality\|Mouth disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C536262 MeSH: C536262 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants