46,XY complete gonadal dysgenesis
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.
MONDO:0019520
obsolete syndromic lymphedema (obsolete MONDO:0019520)
excluded_subClassOf
MONDO:0001967
gonadal dysgenesis
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
MONDO:0024573
familial hypertrophic cardiomyopathy
is_a
46 XY gonadal dysgenesis
exact
46, XY CGD
exact
46, XY complete gonadal dysgenesis
exact
46, XY pure gonadal dysgenesis
exact
46,XY CGD
exact
46,XY SEX reversal
exact
46,XY gonadal dysgenesis
exact
46,XY pure gonadal dysgenesis
exact
Swyer syndrome
exact
gonadal dysgenesis, XY female type
related
SPAPB1A10.06c