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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 cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants.
Synonyms:exact_synonym: D-TGA;   Great Arteries Transposition;   Great Vessels Transposition;   Great Vessels Transpositions;   Transposition of Great Arteries;   congenitally uncorrected transposition of the great arteries;   congenitally uncorrected transposition of the great vessels;   great arteries transpositions;   isolated ventriculoarterial discordance;   transposition of great vessels;   ventriculoarterial discordance with atrioventricular concordance
 primary_id: MESH:D014188
 xref: ICD10CM:Q20.3;   NCI:C84742;   OMIM:PS608808;   ORDO:860
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dextro-looped transposition of the great arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924340 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Med13l mediator complex subunit 13L ISO RGD PMID:14638541 RGD:1580649 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP: : rs1051266(human) RGD PMID:22868813 RGD:11565105 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Transposition of great vessels ClinVar PMID:30311386 NCBI chr 3:63,565,160...63,837,815 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 chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
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 chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Interrupted aortic arch ClinVar PMID:30311386 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Interrupted aortic arch ClinVar PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Interrupted aortic arch ClinVar PMID:30311386 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868, PMID:32003456 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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, PMID:17891434, PMID:19073351, PMID:19464101, PMID:19533775, PMID:19948535, PMID:20456451, PMID:20807224, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar
OMIM
PMID:24421281, PMID:25741868, PMID:28492532 NCBI chr15:51,034,620...51,038,715
Ensembl chr15:51,034,620...51,038,704
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:11748311, PMID:15355425, PMID:18375573, PMID:25741868, PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
dextro-looped transposition of the great arteries 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:608808 MouseDO NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISS OMIM:608808 MouseDO NCBI chr10:56,609,810...56,619,269
Ensembl chr10:56,610,051...56,619,269
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISS OMIM:608808 MouseDO NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 1 OMIM
ClinVar
PMID:14638541, PMID:23403903, PMID:24781760, PMID:25741868, PMID:27824329, PMID:28492532, PMID:28645799 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
dextro-looped transposition of the great arteries 3 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: Transposition of the great arteries, dextro-looped 3 ClinVar PMID:14648004, PMID:17924340, PMID:17936261, PMID:20413652, PMID:25741868, PMID:28492532, PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 3 OMIM
ClinVar
PMID:14648004, PMID:17924340, PMID:17936261, PMID:20413652, PMID:25741868, PMID:28492532, PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
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 null ClinVar PMID:17924340 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:217095 MouseDO NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
JBrowse link
G Ece1 endothelin converting enzyme 1 ISS OMIM:217095 MouseDO NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Gata6 GATA binding protein 6 ISS OMIM:217095 MouseDO NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17924340 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
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 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISS OMIM:217095 MouseDO NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISS OMIM:217095 MouseDO NCBI chr15:51,034,620...51,038,715
Ensembl chr15:51,034,620...51,038,704
JBrowse link
G Tbx1 T-box transcription factor 1 ISS OMIM:217095 MouseDO NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 9:121,802,471...121,918,906
Ensembl chr 9:121,802,673...121,902,678
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar PMID:14517948, PMID:17568391, PMID:20807224, PMID:21919901, PMID:24702427, PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      congenital heart disease 1074
        dextro-looped transposition of the great arteries 23
          Congenitally Corrected Transposition of the Great Arteries 1
          Dextro-Looped Transposition of the Great Arteries 2 0
          Radial Ray Deficiency, X-Linked 0
          dextro-looped transposition of the great arteries 1 4
          dextro-looped transposition of the great arteries 3 2
          double outlet right ventricle + 17
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              dextro-looped transposition of the great arteries 23
                Congenitally Corrected Transposition of the Great Arteries 1
                Dextro-Looped Transposition of the Great Arteries 2 0
                Radial Ray Deficiency, X-Linked 0
                dextro-looped transposition of the great arteries 1 4
                dextro-looped transposition of the great arteries 3 2
                double outlet right ventricle + 17
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.