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double outlet right ventricle - Ontology Report - Rat Genome Database

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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:double outlet right ventricle
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Accession:DOID:6406 term browser browse the term
Definition:Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted.
Synonyms:exact_synonym: Double Outlet Right Ventricle, Noncommitted VSD;   Double Outlet Right Ventricle, Subaortic VSD;   Double Outlet Right Ventricle, Subpulmonary VSD;   Taussig Bing Anomaly;   Taussig-Bing syndrome or defect;   dextrotransposition of aorta;   double outlet right ventricle with subpulmonary ventricular septal defect
 primary_id: MESH:D004310
 xref: GARD:1908;   ICD10CM:Q20.1;   ICD9CM:745.11;   NCI:C98916;   ORDO:3426
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
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 PMID:25741868 NCBI chr 2:58,951,463...58,972,692
Ensembl chr 2:58,951,727...58,974,670 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B ISO OMIM:217095 MouseDO NCBI chr15:56,943,183...56,951,929 JBrowse link
G DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672 		JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907 		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 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046 		JBrowse link
G SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 6:105,505,944...105,600,694
Ensembl chr 6:105,505,479...105,600,687 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 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 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287 		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 chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650 		JBrowse link
G BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,874,281...6,926,950
Ensembl chr14:6,874,300...6,889,133 		JBrowse link
G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,063 		JBrowse link
G CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,860,052...6,874,334
Ensembl chr14:6,859,664...6,874,327 		JBrowse link
G CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,390,066...7,403,657
Ensembl chr14:7,390,061...7,403,654 		JBrowse link
G DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,315,643...6,346,722
Ensembl chr14:6,321,870...6,346,865 		JBrowse link
G EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,943,184...6,948,507
Ensembl chr14:6,944,935...6,948,580 		JBrowse link
G ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,565,610...7,604,464
Ensembl chr14:7,565,604...7,594,057 		JBrowse link
G FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882 		JBrowse link
G FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,360,333...6,376,941
Ensembl chr14:6,360,412...6,376,922 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481 		JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,386,900...6,404,968
Ensembl chr14:6,386,903...6,407,031 		JBrowse link
G LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,419,100...6,429,266
Ensembl chr14:6,419,592...6,428,563 		JBrowse link
G LOC100737977 tumor necrosis factor receptor superfamily member 10B-like ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,344,788...7,371,086 JBrowse link
G LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704 		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 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr14:7,811,200...7,815,553
Ensembl chr14:7,811,200...7,815,645 		JBrowse link
G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,783,296...7,787,036
Ensembl chr14:7,783,323...7,787,033 		JBrowse link
G NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,378,987...6,381,712
Ensembl chr14:6,377,815...6,381,596 		JBrowse link
G PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,834,116...6,848,536
Ensembl chr14:6,834,779...6,848,526 		JBrowse link
G PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,966,861...7,173,255
Ensembl chr14:6,966,862...7,173,347 		JBrowse link
G PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,494,395...6,506,747
Ensembl chr14:6,494,402...6,506,546 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,560,402...6,632,524
Ensembl chr14:6,560,565...6,632,523 		JBrowse link
G POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,520,962...6,529,526
Ensembl chr14:6,521,024...6,532,156 		JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,711,789...6,799,318
Ensembl chr14:6,711,442...6,794,667 		JBrowse link
G R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,419,558...7,434,938
Ensembl chr14:7,405,792...7,434,935 		JBrowse link
G REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,411,510...6,415,612
Ensembl chr14:6,411,513...6,415,590 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,223,209...7,254,813
Ensembl chr14:7,222,981...7,254,780 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		JBrowse link
G SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,665,002...7,709,998
Ensembl chr14:7,665,007...7,706,768 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,639,485...6,687,929
Ensembl chr14:6,639,206...6,687,924 		JBrowse link
G SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,802,944...6,831,152
Ensembl chr14:6,808,166...6,828,975 		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 cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr12:36,878,662...36,887,513
Ensembl chr12:36,878,675...36,887,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15437
    physical disorder 5075
      congenital heart disease 1380
        dextro-looped transposition of the great arteries 55
          double outlet right ventricle 46
            Conotruncal Cardiac Defects 36
Path 2
Term Annotations click to browse term
  disease 15437
    disease of anatomical entity 15106
      respiratory system disease 4878
        thoracic disease 3748
          heart disease 3193
            congenital heart disease 1380
              heart septal defect 217
                ventricular septal defect 159
                  double outlet right ventricle 46
                    Conotruncal Cardiac Defects 36
paths to the root