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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:atrial heart septal defect 3
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Accession:DOID:0110108 term browser browse the term
Definition:An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. (DO)
Synonyms:exact_synonym: ASD3;   atrial septal defect 3
 primary_id: MESH:C563540;   RDO:0012768
 alt_id: OMIM:614089;   RDO:9000137


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          atrial heart septal defect 3 1
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        Congenital Abnormalities 7448
          Cardiovascular Abnormalities 1537
            congenital heart disease 1341
              heart septal defect 213
                atrial heart septal defect 121
                  atrial heart septal defect 3 1
paths to the root