| Metadata | |
|---|---|
| ID | DOID:0111777 |
| Name | 46,XY sex reversal 2 |
| 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 hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. https://www.ncbi.nlm.nih.gov/pubmed/1956279, https://www.ncbi.nlm.nih.gov/pubmed/567843, https://www.ncbi.nlm.nih.gov/pubmed/7951319 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
46,XY sex reversal, DAX1-related [EXACT] 46XY sex reversal 2, dosage-sensitive [EXACT] dosage-sensitive sex reversal [EXACT] DSS [EXACT] SRXY2 [EXACT] |
| Parent Relationships |
is_a 46,XY sex reversal |