| Metadata | |
|---|---|
| ID | DOID:0111776 |
| Name | 46,XY sex reversal 5 |
| 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 homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. https://www.ncbi.nlm.nih.gov/pubmed/19361780, https://www.ncbi.nlm.nih.gov/pubmed/1956279 |
| Xrefs | |
| Synonyms |
46,XY gonadal dysgenesis, complete, CBX2-related [EXACT] 46,XY sex reversal, CBX2-related [EXACT] disorder of sex development, 46,XY, CBX2-related [EXACT] sex reversal, XY, CBX2-related [EXACT] SRXY5 [EXACT] |
| Parent Relationships |
is_a 46,XY sex reversal |