mullerian aplasia and hyperandrogenism
Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.
MONDO:0003847
hereditary disease
is_a
MONDO:0015830
partial bilateral aplasia of the mullerian ducts
is_a
Mullerian duct failure and hyperandrogenism
exact
Müllerian duct failure and hyperandrogenism
exact
WNT4 Deficiency
exact
WNT4 deficiency
exact
mullerian aplasia and hyperandrogenism
exact