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ONTOLOGY REPORT - ANNOTATIONS


Term:atrial heart septal defect 7
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Accession:DOID:0110112 term browser browse the term
Definition:An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: ASD with or without atrioventricular conduction defects;   ASD7;   ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS;   atrial septal defect 7, with or without AV conduction defects;   atrial septal defect-atrioventricular conduction defects syndrome
 primary_id: OMIM:108900
 alt_id: RDO:0007890
 xref: ORDO:1479
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atrial heart septal defect 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      congenital heart disease 850
        heart septal defect 171
          atrial heart septal defect 58
            atrial heart septal defect 7 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Cardiovascular Abnormalities 903
            congenital heart disease 850
              heart septal defect 171
                atrial heart septal defect 58
                  Atrial Septal Defect with Atrioventricular Conduction Defects 1
                    atrial heart septal defect 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.