Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:46,XX sex reversal 3
go back to main search page
Accession:DOID:0111762 term browser browse the term
Definition:A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. (DO)
Synonyms:exact_synonym: CHROMOSOME Xq26 DUPLICATION SYNDROME;   SRXX3
 narrow_synonym: 46,XX SEX REVERSAL, SOX3-CHROMOSOME Xq26 DELETION SYNDROME
 primary_id: OMIM:300833
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Urogenital Abnormalities 376
          disorder of sexual development 205
            46, XX Disorders of Sex Development 31
              46 XX gonadal dysgenesis 19
                46,XX sex reversal 3 0
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Female Urogenital Diseases and Pregnancy Complications 2213
          Female Urogenital Diseases 1836
            female reproductive system disease 1832
              Adnexal Diseases 829
                ovarian disease 820
                  Primary Ovarian Failure 151
                    46 XX gonadal dysgenesis 19
                      46,XX sex reversal 3 0
paths to the root