Search Ontology:
Human Disease

46,XY sex reversal 3

Term ID
DOID:0111772
Synonyms
  • 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
  • 46,XY sex reversal, partial or complete, NR5A1-related
  • disorder of sex development, 46,XY, NR5A1-related
  • sex reversal, XY, with or without adrenal failure
  • SRXY3
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 heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (2)
References
Ontology
Human Disease   ( DOID:0111772 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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