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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: MIM:239711


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 IAGP ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97543
    physical disorder 7932
      congenital heart disease 2006
        heart septal defect 258
          ventricular septal defect 179
            tetralogy of Fallot 51
              Hypertelorism and Tetralogy of Fallot 1
Path 2
Term Annotations click to browse term
  disease 97543
    Developmental Disease 35157
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28636
        Congenital Abnormalities 15071
          Cardiovascular Abnormalities 2223
            congenital heart disease 2006
              heart septal defect 258
                ventricular septal defect 179
                  tetralogy of Fallot 51
                    Hypertelorism and Tetralogy of Fallot 1
paths to the root