46,Xy Sex Reversal 8
Disease ID: disease_node_17156
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| Dbxref | MIM:614279, ORDO:443087 |
|---|---|
| Subclassof | DOID_0050737, DOID_14448 |
| Data Source | DOID |
| Synonyms | SRXY8, TDD, male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase |
| Doid Label | 46,XY sex reversal 8 |
| 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 homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17156 |
| Doid Id | DOID_0111773 |
| Label | 46,Xy Sex Reversal 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Gonadal Dysgenesis, 46,Xy(ID:disease_node_3577) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)