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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 3
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Accession:DOID:9007136 term browser browse the term
Synonyms:exact_synonym: AVSD3


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Atrioventricular Septal Defect 3 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 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:119,213,513...119,227,617 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15684
    physical disorder 4931
      congenital heart disease 1346
        heart septal defect 211
          ventricular septal defect 154
            atrioventricular septal defect 55
              Atrioventricular Septal Defect 3 1
Path 2
Term Annotations click to browse term
  disease 15684
    Developmental Disease 13610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12664
        Congenital Abnormalities 7507
          Cardiovascular Abnormalities 1537
            congenital heart disease 1346
              heart septal defect 211
                atrial heart septal defect 119
                  atrioventricular septal defect 55
                    Atrioventricular Septal Defect 3 1
paths to the root