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46,XY sex reversal 8
Summary
- Synonym
-
- SRXY8
- TDD
- male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
- Definition
- 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.
- Super Class
- 46,XY sex reversal autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111773
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000037 | Male pseudohermaphroditism |
| HP:0000062 | Ambiguous genitalia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0012245 | Sex reversal |
| HP:0000028 | Cryptorchidism |
