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:Hypertelorism and Tetralogy of Fallot
go back to main search page
Accession:DOID:9005059 term browser browse the term
Synonyms:primary_id: MESH:C538386
 alt_id: MIM:239711


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chrNW_004624756:23,060,065...23,062,407
Ensembl chrNW_004624756:23,060,751...23,062,343
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14166
    physical disorder 4797
      congenital heart disease 1302
        heart septal defect 204
          ventricular septal defect 148
            tetralogy of Fallot 44
              Hypertelorism and Tetralogy of Fallot 1
Path 2
Term Annotations click to browse term
  disease 14166
    Developmental Disease 12411
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11649
        Congenital Abnormalities 7067
          Cardiovascular Abnormalities 1485
            congenital heart disease 1302
              heart septal defect 204
                ventricular septal defect 148
                  tetralogy of Fallot 44
                    Hypertelorism and Tetralogy of Fallot 1
paths to the root