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ONTOLOGY REPORT - ANNOTATIONS


Term:Conotruncal Cardiac Defects
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Accession:DOID:9007617 term browser browse the term
Synonyms:exact_synonym: CTHM;   Conotruncal heart malformations;   Truncus arteriosus communis
 narrow_synonym: CAFS;   CONOTRUNCAL ANOMALY FACE SYNDROME;   DORV;   DOUBLE-OUTLET RIGHT VENTRICLE;   INTERRUPTED AORTIC ARCH;   PERSISTENT TRUNCUS ARTERIOSUS;   PTA
 primary_id: MESH:C535464;   OMIM:217095
 alt_id: DOID:9003314;   RDO:0000590;   RDO:0009867
For additional species annotation, visit the Alliance of Genome Resources.


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Conotruncal Cardiac Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Add1 adducin 1 JBrowse link 14 81,367,466 81,426,610 RGD:5147996
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11565174
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872
G Nkx2-6 NK2 homeobox 6 JBrowse link 15 51,034,620 51,038,715 RGD:8554872
RGD:7240710
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      congenital heart disease 849
        Conotruncal Cardiac Defects 6
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Cardiovascular Abnormalities 901
            congenital heart disease 849
              heart septal defect 171
                ventricular septal defect 126
                  double outlet right ventricle 13
                    Conotruncal Cardiac Defects 6
paths to the root

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