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:Ovotesticular Disorders of Sex Development
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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, SRY-RELATED
ClinVar Annotator: match by OMIM:400044
OMIM
ClinVar
PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 PMID:1619028 PMID:1639410 PMID:1734522 PMID:1956279 PMID:2247149 PMID:2247151 PMID:2401216 PMID:7718558 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:20528776 PMID:25741868 PMID:28492532 PMID:28787711 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
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 PMID:8257986 PMID:9450909 PMID:12793612 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      endocrine system disease 5792
        gonadal disease 1008
          disorder of sexual development 162
            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 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        Congenital Abnormalities 5557
          Urogenital Abnormalities 324
            disorder of sexual development 162
              Ovotesticular Disorders of Sex Development 1
                46,XY sex reversal 1 1
                46,Xy True Hermaphroditism, Sry-Related 1
paths to the root