| Metadata | |
|---|---|
| ID | DOID:0111774 |
| Name | 46,XY sex reversal 7 |
| 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 DHH on chromosome 12q13.12. https://www.ncbi.nlm.nih.gov/pubmed/15356051, https://www.ncbi.nlm.nih.gov/pubmed/1956279 |
| Xrefs | |
| Synonyms |
46,XY gonadal dysgenesis, partial or complete, DHH-related [EXACT] 46,XY sex reversal, partial or complete, DHH-related [EXACT] GDXYM [EXACT] gonadal dysgenesis, XY, male limited [EXACT] SRXY7 [EXACT] |
| Parent Relationships |
is_a 46,XY sex reversal |