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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: MIM:614089;   RDO:9000137


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atrial heart septal defect 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial septal defect 3		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11815426 PMID:15735645 PMID:15998695 PMID:16199547 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        genetic disease 13292
          atrial heart septal defect 3 1
Path 2
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        Congenital Abnormalities 7759
          Cardiovascular Abnormalities 1582
            congenital heart disease 1382
              heart septal defect 221
                atrial heart septal defect 127
                  atrial heart septal defect 3 1
paths to the root