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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 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 19100
    physical disorder 5180
      congenital heart disease 1404
        heart septal defect 222
          ventricular septal defect 162
            atrioventricular septal defect 61
              Atrioventricular Septal Defect 3 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      respiratory system disease 5243
        thoracic disease 4053
          heart disease 3474
            congenital heart disease 1404
              heart septal defect 222
                atrial heart septal defect 128
                  atrioventricular septal defect 61
                    Atrioventricular Septal Defect 3 1
paths to the root