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mullerian aplasia and hyperandrogenism
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism.
Mondo Term and Equivalent IDs
MONDO:0008019: mullerian aplasia and hyperandrogenism
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111526
MESH:C567186
NCIT:C120376
OMIM:158330
Orphanet:247768
UMLS:C2675014
MONDO:0008019
High level summary of knowledge for a disease, including descriptions and datasource references.