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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 1
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Accession:DOID:0111761 term browser browse the term
Definition:A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. (DO)
Synonyms:exact_synonym: 46,XX SEX REVERSAL, SRY-POSITIVE;   SRXX1;   SRY-positive XX male
 narrow_synonym: 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE 46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE;   OVOTESTICULAR DISORDER OF SEX DEVELOPMENT;   OVOTESTICULAR DSD
 primary_id: OMIM:400045
 xref: NCI:C179867
For additional species annotation, visit the Alliance of Genome Resources.



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46,XX sex reversal 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XX sex reversal 1 OMIM
ClinVar
PMID:25741868

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Urogenital Diseases 4682
        Urogenital Abnormalities 376
          disorder of sexual development 205
            46, XX Disorders of Sex Development 31
              46 XX gonadal dysgenesis 19
                46,XX sex reversal 1 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Urogenital Diseases 4682
        Female Urogenital Diseases and Pregnancy Complications 2212
          Female Urogenital Diseases 1835
            female reproductive system disease 1831
              Adnexal Diseases 829
                ovarian disease 820
                  Primary Ovarian Failure 151
                    46 XX gonadal dysgenesis 19
                      46,XX sex reversal 1 1
paths to the root