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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

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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 PMID:21208124 PMID:22051515 NCBI chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Urogenital Diseases 4491
        Urogenital Abnormalities 414
          disorder of sexual development 216
            46, XX Disorders of Sex Development 32
              46 XX gonadal dysgenesis 19
                46,XX sex reversal 2 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Urogenital Diseases 4491
        Female Urogenital Diseases and Pregnancy Complications 2224
          Female Urogenital Diseases 1840
            female reproductive system disease 1837
              Adnexal Diseases 857
                ovarian disease 849
                  Primary Ovarian Failure 163
                    46 XX gonadal dysgenesis 19
                      46,XX sex reversal 2 1
paths to the root