Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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,Xy True Hermaphroditism, Sry-Related
go back to main search page
Accession:DOID:9006530 term browser browse the term
Synonyms:primary_id: MESH:C567575;   RDO:0015622



show annotations for term's descendants           Sort by:
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 19142
    disease of anatomical entity 18455
      endocrine system disease 7039
        gonadal disease 1392
          disorder of sexual development 243
            46, XY Disorders of Sex Development 87
              46,Xy True Hermaphroditism, Sry-Related 1
Path 2
Term Annotations click to browse term
  disease 19142
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13716
        Congenital Abnormalities 7890
          Urogenital Abnormalities 464
            disorder of sexual development 243
              Ovotesticular Disorders of Sex Development 1
                46,Xy True Hermaphroditism, Sry-Related 1
paths to the root