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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:Hypertelorism and Tetralogy of Fallot
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Accession:DOID:9005059 term browser browse the term
Synonyms:primary_id: MESH:C538386
 alt_id: OMIM:239711


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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 chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital heart disease 1349
        heart septal defect 215
          ventricular septal defect 158
            tetralogy of Fallot 48
              Hypertelorism and Tetralogy of Fallot 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Cardiovascular Abnormalities 1548
            congenital heart disease 1349
              heart septal defect 215
                ventricular septal defect 158
                  tetralogy of Fallot 48
                    Hypertelorism and Tetralogy of Fallot 1
paths to the root