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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by OMIM:614089
ClinVar Annotator: match by term: Atrial septal defect 3
OMIM
ClinVar
PMID:15735645 PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 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 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          atrial heart septal defect 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Cardiovascular Abnormalities 1145
            congenital heart disease 1088
              heart septal defect 134
                atrial heart septal defect 83
                  atrial heart septal defect 3 1
paths to the root