46,Xy Sex Reversal 2
Disease ID: disease_node_17154
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| Dbxref | GARD:9159, MIM:300018 |
|---|---|
| Subclassof | DOID_0050735, DOID_14448 |
| Data Source | DOID |
| Synonyms | 46,XY sex reversal, DAX1-related, 46XY sex reversal 2, dosage-sensitive, SRXY2, dosage-sensitive sex reversal |
| Doid Label | 46,XY sex reversal 2 |
| 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 duplication of the NR0B1 gene on chromosome Xp21.2. |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_17154 |
| Doid Id | DOID_0111777 |
| Label | 46,Xy Sex Reversal 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Gonadal Dysgenesis, 46,Xy(ID:disease_node_3577) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Monogenic Disease(ID:disease_node_13360) (Disease)