Search Ontology:
Human Disease

46,XY sex reversal 5

Term ID
DOID:0111776
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 the CBX2 gene on chromosome 17q25.3. (2)
References
Ontology
Human Disease   ( DOID:0111776 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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