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46,XY complete gonadal dysgenesis

MONDO:0010765

Also known as: 46 XY gonadal dysgenesis, 46, XY CGD, 46, XY complete gonadal dysgenesis, 46, XY pure gonadal dysgenesis, 46,XY CGD

MONDO:
MONDO:0010765
Orphanet:
242
Rare disease38 associated genes

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.

Associated genes

+28 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.