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46,XY complete gonadal dysgenesis

Disease Summary
Associated Targets (16)
Tbio

8

Tchem

5

Tclin

2

Tdark

1


GARD Rare
Mondo Description 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
Disease Ontology Description A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
Mondo Term and Equivalent IDs
MONDO:0010765:  46,XY complete gonadal dysgenesis
GARD:0005068: 
MESH:D006061: 
NCIT:C120198: 
OMIMPS:400044: 
Orphanet:242: 
SCTID:95218005: 
UMLS:C0018054: 
UMLS:C2936694: