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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 dupication syndrome;   chromosome 17q24 duplication syndrome
 primary_id: OMIM:278850
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:21208124 PMID:22051515 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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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 2 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 2 1
paths to the root