46,Xy Sex Reversal 1
Disease ID: disease_node_14948
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:400044 |
|---|---|
| Subclassof | DOID_14448, DOID_0050738 |
| Data Source | DOID |
| Synonyms | 46,XY gonadal dysgenesis, complete, SRY-related, 46,XY sex reversal, SRY-related, SRXY1 |
| Doid Label | 46,XY sex reversal 1 |
| Doid Description | 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 mutation in SRY on chromosome Yp11.2. |
| Has Material Basis In | GENO_0000941 |
| Disease Node Id | disease_node_14948 |
| Doid Id | DOID_0111778 |
| Label | 46,Xy Sex Reversal 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Y-Linked Monogenic Disease(ID:disease_node_14949) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Gonadal Dysgenesis, 46,Xy(ID:disease_node_3577) (Disease)