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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: Anus, Imperforate (D001006)
Parent Node: Hypospadias (D007021)
..Starting node ..Anal Atresia, Hypospadias, and Penoscrotal Inversion (C566526)
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:	602
Name:	Anal Atresia, Hypospadias, and Penoscrotal Inversion
Definition:
Alternative IDs:
ParentIDs:	MESH:D001006\|MESH:D007021
TreeNumbers:	C06.198.050/C566526 \|C12.294.494.400/C566526 \|C12.706.516/C566526 \|C13.351.875.466/C566526 \|C16.131.314.094/C566526 \|C16.131.939.516/C566526
Synonyms:
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C566526 MeSH: C566526 OMIM: 602553; Genes:
Phenotypes
Disease Causing ClinVar Variants