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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:Ovotesticular Disorders of Sex Development
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Accession:DOID:9006982 term browser browse the term
Definition:Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism.
Synonyms:exact_synonym: 46,XX Gonadal Dysgenesis, Complete, Sry-Positive;   46,XX True Hermaphroditism, Sry-Positive;   Familial True Hermaphroditism;   Familial True Hermaphroditisms;   Familial XX True Hermaphroditism;   Ovotesticular DSD;   Ovotesticular DSDs;   Ovotesticular Disorder Of Sex Development;   True Hermaphroditism;   True Hermaphroditisms;   XX Male Syndrome, Sry Positive
 primary_id: MESH:D050090;   RDO:0007567
 xref: NCI:C85207


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46,XY 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,XY sex reversal 1 OMIM
ClinVar		 PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 More... NCBI chr  Y:441,525...442,037 JBrowse link
46,Xy True Hermaphroditism, Sry-Related 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,XY true hermaphroditism, SRY-related ClinVar PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 More... 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
      endocrine system disease 7033
        gonadal disease 1388
          disorder of sexual development 240
            Ovotesticular Disorders of Sex Development 1
              46,XY sex reversal 1 1
              46,Xy True Hermaphroditism, Sry-Related 1
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        Congenital Abnormalities 7885
          Urogenital Abnormalities 461
            disorder of sexual development 240
              Ovotesticular Disorders of Sex Development 1
                46,XY sex reversal 1 1
                46,Xy True Hermaphroditism, Sry-Related 1
paths to the root