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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 5
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Accession:DOID:0110110 term browser browse the term
Definition:An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)
Synonyms:exact_synonym: ASD5;   atrial septal defect 5
 primary_id: MESH:C567561
 alt_id: OMIM:612794;   RDO:0015609

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital heart disease 1284
        heart septal defect 200
          atrial heart septal defect 116
            atrial heart septal defect 5 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Cardiovascular Abnormalities 1470
            congenital heart disease 1284
              heart septal defect 200
                atrial heart septal defect 116
                  atrial heart septal defect 5 1
paths to the root