Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:atrial heart septal defect 7
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 15599
    Developmental Diseases 8726
      congenital heart disease 848
        heart septal defect 171
          atrial heart septal defect 58
            atrial heart septal defect 7 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        Congenital Abnormalities 3579
          Cardiovascular Abnormalities 900
            congenital heart disease 848
              heart septal defect 171
                atrial heart septal defect 58
                  Atrial Septal Defect with Atrioventricular Conduction Defects 1
                    atrial heart septal defect 7 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.