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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:Atrioventricular Septal Defect and Common Atrioventricular Junction
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Accession:DOID:9004411 term browser browse the term


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Atrioventricular Septal Defect and Common Atrioventricular Junction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction ClinVar PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital heart disease 1346
        heart septal defect 215
          ventricular septal defect 158
            atrioventricular septal defect 57
              Atrioventricular Septal Defect and Common Atrioventricular Junction 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        Congenital Abnormalities 7567
          Cardiovascular Abnormalities 1545
            congenital heart disease 1346
              heart septal defect 215
                atrial heart septal defect 121
                  atrioventricular septal defect 57
                    Atrioventricular Septal Defect and Common Atrioventricular Junction 1
paths to the root