| Metadata | |
|---|---|
| ID | DOID:0111773 |
| Name | 46,XY sex reversal 8 |
| 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 AKR1C2 gene on chromosome 10p15.1. https://www.ncbi.nlm.nih.gov/pubmed/1956279, https://www.ncbi.nlm.nih.gov/pubmed/21802064, https://www.ncbi.nlm.nih.gov/pubmed/4352099 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase [EXACT] SRXY8 [EXACT] TDD [EXACT] |
| Parent Relationships |
is_a 46,XY sex reversal |