46,Xx Sex Reversal 2
Disease ID: disease_node_17161
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:278850 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111760 |
| Data Source | DOID |
| Synonyms | SRXX2, chromosome 17q24 duplication syndrome |
| Doid Label | 46,XX sex reversal 2 |
| Doid Description | A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17161 |
| Doid Id | DOID_0111763 |
| Label | 46,Xx Sex Reversal 2 |
- Outgoing r'ship
SUBCLASS_OFto/from 46, Xx Testicular Disorders Of Sex Development(ID:disease_node_12559) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)