|
General Information
|
| Term |
46,XY sex reversal 5 |
ID (Ontology) |
DOID:0111776 (Human Disease) |
| 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. |
| Also Known As |
"46,XY gonadal dysgenesis, complete, CBX2-related" ; "46,XY sex reversal, CBX2-related" ; "disorder of sex development, 46,XY, CBX2-related" (for all, see Synonyms field below) |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
46,XY sex reversal 5 | 1 | for disease ribbon | 46,XY sex reversal 5 | 1 | model of | 46,XY sex reversal 5 | 1 |
|
Relationships