Search Ontology:
Human Disease

46,XY sex reversal 8

Term ID
DOID:0111773
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 the AKR1C2 gene on chromosome 10p15.1. (3)
References
Ontology
Human Disease   ( DOID:0111773 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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