| Metadata | |
|---|---|
| ID | DOID:0111769 |
| Name | 46,XY sex reversal 6 |
| Definition | A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. https://www.ncbi.nlm.nih.gov/pubmed/1956279, https://www.ncbi.nlm.nih.gov/pubmed/21129722 |
| Xrefs | |
| Synonyms |
46,XY gonadal dysgenesis, partial or complete, MAP3K1-related [EXACT] 46,XY sex reversal, partial or complete, MAP3K1-related [EXACT] SRXY6 [EXACT] |
| Parent Relationships |
is_a 46,XY sex reversal |