OBO ID: DOID:0111776
Term Name: 46,XY sex reversal 5 Search Ontology:
Synonyms:
  • 46,XY gonadal dysgenesis, complete, CBX2-related
  • 46,XY sex reversal, CBX2-related
  • disorder of sex development, 46,XY, CBX2-related
  • sex reversal, XY, CBX2-related
  • SRXY5
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 CBX2 on chromosome 17q25.3. (2)
References:
Ontology: Human Disease   (DOID:0111776)
OTHER 46,XY sex reversal 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CBX2 ?46XY sex reversal 5 613080
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None