RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure; 46,XY Sex Reversal, Partial or Complete, NR5A1-Related; DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED; SRXY3; XY sex reversal, with or without adrenal failure