46,Xy Sex Reversal 6
Disease ID: disease_node_17159
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:613762 |
|---|---|
| Subclassof | DOID_0050736, DOID_14448 |
| Data Source | DOID |
| Synonyms | 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related, 46,XY sex reversal, partial or complete, MAP3K1-related, SRXY6 |
| Doid Label | 46,XY sex reversal 6 |
| 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 heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17159 |
| Doid Id | DOID_0111769 |
| Label | 46,Xy Sex Reversal 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Gonadal Dysgenesis, 46,Xy(ID:disease_node_3577) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)