Mullerian aplasia and hyperandrogenism

Summary

DOID:0111526 - Mullerian aplasia and hyperandrogenism

Disease Ontology Definition:A sex development disorder characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12.

Synonyms: Mullerian duct failure and hyperandrogenism, WNT4 deficiency

In OMIM:

OMIM:158330 - MULLERIAN APLASIA AND HYPERANDROGENISM

OMIM:158330 - MULLERIAN APLASIA AND HYPERANDROGENISM

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: wnt4

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

Parent(s): autosomal dominant disease (is_a), disorders of sexual development (is_a)