| Metadata | |
|---|---|
| ID | DOID:0111526 |
| Name | Mullerian aplasia and hyperandrogenism |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Mullerian duct failure and hyperandrogenism [EXACT] WNT4 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |