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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:dextro-looped transposition of the great arteries
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Accession:DOID:0060770 term browser browse the term
Definition:A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (DO)
Synonyms:exact_synonym: D-TGA;   DTGA1;   TRANSPOSITION OF THE GREAT ARTERIES;   congenitally uncorrected transposition of the great arteries;   congenitally uncorrected transposition of the great vessels;   dextro-looped transposition of the great arteries 1;   great arteries transposition;   great arteries transpositions;   great vessels transposition;   great vessels transpositions;   isolated ventriculoarterial discordance;   transposition of great arteries;   transposition of great vessels;   ventriculoarterial discordance with atrioventricular concordance
 broad_synonym: MED13L-related disorder
 primary_id: MESH:D014188
 alt_id: DOID:0060771;   MESH:C563853;   OMIM:608808
 xref: ICD10CM:Q20.3;   NCI:C84742;   ORDO:860
For additional species annotation, visit the Alliance of Genome Resources.



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dextro-looped transposition of the great arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1b activin A receptor type 1B ISO ClinVar Annotator: match by term: Dextro-looped transposition of the great arteries 1 ClinVar NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS MouseDO NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISS MouseDO NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Transposition of the great arteries ClinVar PMID:12845333 PMID:25741868 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924340 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISS MouseDO NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Dextro-looped transposition of the great arteries 1 ClinVar
RGD
PMID:14638541 PMID:16199547 PMID:23403903 PMID:25712080 PMID:25741868 More... RGD:1580649 NCBI chr12:37,807,596...38,004,485
Ensembl chr12:37,808,285...38,004,473
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP: : (rs1051266) (human) RGD PMID:22868813 RGD:11565105 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
Congenitally Corrected Transposition of the Great Arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries ClinVar PMID:25741868 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
JBrowse link
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
double outlet right ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:217095 MouseDO NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
JBrowse link
G Ece1 endothelin converting enzyme 1 ISS OMIM:217095 MouseDO NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Gata6 GATA binding protein 6 ISS OMIM:217095 MouseDO NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17924340 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISS OMIM:217095 MouseDO NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISS OMIM:217095 MouseDO 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 ISS OMIM:217095 MouseDO NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 9:113,200,256...113,275,942
Ensembl chr 9:113,200,256...113,299,837
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
multiple types of congenital heart defects 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Dextro-looped transposition of the great arteries 3 ClinVar PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Dextro-looped transposition of the great arteries 3 OMIM
ClinVar
PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      congenital heart disease 1191
        dextro-looped transposition of the great arteries 21
          Congenitally Corrected Transposition of the Great Arteries 1
          Dextro-Looped Transposition of the Great Arteries 2 0
          Radial Ray Deficiency, X-Linked 0
          double outlet right ventricle + 14
          multiple types of congenital heart defects 6 2
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        Congenital Abnormalities 6706
          Cardiovascular Abnormalities 1253
            congenital heart disease 1191
              dextro-looped transposition of the great arteries 21
                Congenitally Corrected Transposition of the Great Arteries 1
                Dextro-Looped Transposition of the Great Arteries 2 0
                Radial Ray Deficiency, X-Linked 0
                double outlet right ventricle + 14
                multiple types of congenital heart defects 6 2
paths to the root