Mullerian aplasia and hyperandrogenism (DOID:0111526)
Alliance: disease page
Synonyms: Mullerian duct failure and hyperandrogenism; WNT4 deficiency
Alt IDs: OMIM:158330, MESH:C567186, NCI:C120376, ORDO:247768, UMLS_CUI:C2675014
Definition: A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.