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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:Pulmonary Atresia with Ventricular Septal Defect
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Accession:DOID:9008298 term browser browse the term
Synonyms:primary_id: MESH:C562833
 alt_id: MIM:178370


show annotations for term's descendants           Sort by:
Pulmonary Atresia with Ventricular Septal Defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      congenital heart disease 1385
        heart septal defect 221
          Pulmonary Atresia with Ventricular Septal Defect 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        Congenital Abnormalities 7762
          Cardiovascular Abnormalities 1585
            congenital heart disease 1385
              heart septal defect 221
                Pulmonary Atresia with Ventricular Septal Defect 1
paths to the root