ONTOLOGY REPORT - ANNOTATIONS


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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atrial heart septal defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          atrial heart septal defect 3 1
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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Cardiovascular Abnormalities 782
            congenital heart disease 731
              heart septal defect 173
                atrial heart septal defect 60
                  atrial heart septal defect 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.