46,Xy Sex Reversal 7
Disease ID: disease_node_17155
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| Dbxref | MIM:233420 |
|---|---|
| Subclassof | DOID_0050737, DOID_14448 |
| Data Source | DOID |
| Synonyms | 46,XY gonadal dysgenesis, partial or complete, DHH-related, 46,XY sex reversal, partial or complete, DHH-related, GDXYM, SRXY7, gonadal dysgenesis, XY, male limited |
| Doid Label | 46,XY sex reversal 7 |
| 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 DHH on chromosome 12q13.12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17155 |
| Doid Id | DOID_0111774 |
| Label | 46,Xy Sex Reversal 7 |
- 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)