OBO ID: DOID:0111773
Term Name: 46,XY sex reversal 8 Search Ontology:
Synonyms:
  • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
  • SRXY8
  • TDD
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 AKR1C2 on chromosome 10p15.1. (3)
References:
Ontology: Human Disease   (DOID:0111773)
OTHER 46,XY sex reversal 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AKR1C2 46XY sex reversal 8 614279
AKR1C4 {46XY sex reversal 8, modifier of} 614279
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None