OBO ID: DOID:0111526
Term Name: Mullerian aplasia and hyperandrogenism Search Ontology:
Synonyms:
  • 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 WNT4 on chromosome 1p36.12. https://www.ncbi.nlm.nih.gov/pubmed/15317892
References:
Ontology: Human Disease   (DOID:0111526)
OTHER Mullerian aplasia and hyperandrogenism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WNT4 Mullerian aplasia and hyperandrogenism 158330
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None