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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;   RDO:0012381
For additional species annotation, visit the Alliance of Genome Resources.


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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 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    physical disorder 2459
      congenital heart disease 1057
        Pulmonary Atresia with Intact Ventricular Septum 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Congenital Abnormalities 4716
          Cardiovascular Abnormalities 1109
            Vascular Malformations 72
              Pulmonary Atresia 3
                Pulmonary Atresia with Intact Ventricular Septum 1
paths to the root