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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 2
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Accession:DOID:0111763 term browser browse the term
Definition:A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. (DO)
Synonyms:exact_synonym: SRXX2;   chromosome 17q24 duplication syndrome
 primary_id: MIM:278850



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46,XX sex reversal 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar
OMIM
PMID:21208124 PMID:22051515 NCBI chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      Urogenital Diseases 4910
        Urogenital Abnormalities 448
          disorder of sexual development 233
            46, XX Disorders of Sex Development 37
              46 XX gonadal dysgenesis 23
                46,XX sex reversal 2 1
Path 2
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      Urogenital Diseases 4910
        Female Urogenital Diseases and Pregnancy Complications 2592
          Female Urogenital Diseases 2126
            female reproductive system disease 2123
              Adnexal Diseases 1061
                ovarian disease 1052
                  Primary Ovarian Failure 172
                    46 XX gonadal dysgenesis 23
                      46,XX sex reversal 2 1
paths to the root