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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 Intact Ventricular Septum
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Accession:DOID:9003604 term browser browse the term
Synonyms:primary_id: MESH:C562832
 alt_id: OMIM:265150


show annotations for term's descendants           Sort by:
Pulmonary Atresia with Intact Ventricular Septum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum ClinVar PMID:28359939 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    physical disorder 4895
      congenital heart disease 1329
        Pulmonary Atresia with Intact Ventricular Septum 1
Path 2
Term Annotations click to browse term
  disease 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        Congenital Abnormalities 7431
          Cardiovascular Abnormalities 1528
            Vascular Malformations 120
              Pulmonary Atresia 13
                Pulmonary Atresia with Intact Ventricular Septum 1
paths to the root