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



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Conotruncal Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Truncus arteriosus communis OMIM
ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr15:44,443,151...44,447,248
Ensembl chr15:44,443,101...44,447,247
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 More... NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    physical disorder 4121
      congenital heart disease 1194
        Conotruncal Cardiac Defects 7
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        Congenital Abnormalities 6747
          Cardiovascular Abnormalities 1256
            congenital heart disease 1194
              heart septal defect 181
                Aortopulmonary Septal Defect 8
                  Persistent Truncus Arteriosus 8
                    Conotruncal Cardiac Defects 7
paths to the root