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Summary Literature (0)
DOID:0111526 - Mullerian aplasia and hyperandrogenism

Disease Ontology 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.

Synonyms: Mullerian duct failure and hyperandrogenism, WNT4 deficiency,

Xenbase Genes : wnt4



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), disorder of sexual development (is_a)