Search Ontology:
Human Disease
Mullerian aplasia and hyperandrogenism
- Term ID
- DOID:0111526
- Synonyms
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- Mullerian duct failure and hyperandrogenism
- WNT4 deficiency
- 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. https://www.ncbi.nlm.nih.gov/pubmed/15317892
- References
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- MESH:C567186
- MIM:158330
- NCI:C120376
- ORDO:247768
- UMLS_CUI:C2675014
- Ontology
- Human Disease ( DOID:0111526 )
- is a type of
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Genes Involved
Zebrafish Models