46,Xy Sex Reversal 3
Disease ID: disease_node_17157
Connections displayed (default: 10).
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| Dbxref | MIM:612965 |
|---|---|
| Subclassof | DOID_0050736, DOID_14448 |
| Data Source | DOID |
| Synonyms | 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure, 46,XY sex reversal, partial or complete, NR5A1-related, SRXY3, disorder of sex development, 46,XY, NR5A1-related, sex reversal, XY, with or without adrenal failure |
| Doid Label | 46,XY sex reversal 3 |
| 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 NR5A1 gene on chromosome 9q33.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17157 |
| Doid Id | DOID_0111772 |
| Label | 46,Xy Sex Reversal 3 |
- 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)