| Term Name: | Mullerian aplasia and hyperandrogenism |
|---|---|
| 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 the WNT4 gene on chromosome 1p36.12. |
| Ontology: | Human Disease [DOID:0111526] ( DOID:0111526 ) |