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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 GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE;   46,XX SEX REVERSAL, SRY-POSITIVE;   SRXX1;   SRY-positive XX male
 related_synonym: 46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE;   OVOTESTICULAR DISORDER OF SEX DEVELOPMENT;   OVOTESTICULAR DSD
 primary_id: MIM:400045
 xref: NCI:C179867


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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 NCBI chr  Y:441,525...442,037 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        Urogenital Abnormalities 461
          disorder of sexual development 240
            46, XX Disorders of Sex Development 36
              46 XX gonadal dysgenesis 24
                46,XX sex reversal 1 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        Female Urogenital Diseases and Pregnancy Complications 2665
          Female Urogenital Diseases 2188
            female reproductive system disease 2185
              Adnexal Diseases 1074
                ovarian disease 1065
                  Primary Ovarian Failure 174
                    46 XX gonadal dysgenesis 24
                      46,XX sex reversal 1 1
paths to the root