FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term 46,XY sex reversal 3 ID (Ontology) DOID:0111772 (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 heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
Also Known As "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" (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
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show 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 3       2
 for disease ribbon | 46,XY sex reversal 3       2
 model of | 46,XY sex reversal 3       2
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease_________
gonadal dysgenesis                     |
 |__46,XY complete gonadal dysgenesis__|
                                       46,XY sex reversal 3  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
46,XY complete gonadal dysgenesis
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure" EXACT
    "46,XY sex reversal, partial or complete, NR5A1-related" EXACT
    "disorder of sex development, 46,XY, NR5A1-related" EXACT
    "sex reversal, XY, with or without adrenal failure" EXACT
    "SRXY3" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MIM:612965