Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Congenital Heart Defects, Multiple Types
go back to main search page
Accession:DOID:9008565 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by OMIM:306955
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED		 ClinVar
OMIM		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:17295247 PMID:17764085 PMID:18716025 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795 		JBrowse link
Congenital Heart Defects, Multiple Types, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2
ClinVar Annotator: match by OMIM:614980		 OMIM
ClinVar		 PMID:20493459 PMID:25326635 PMID:25741868 PMID:32860008 NCBI chr 1:1,999,574...2,017,574
Ensembl chr 1:1,999,596...2,073,896 		JBrowse link
Congenital Heart Defects, Multiple Types, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3 ClinVar PMID:25741868 PMID:26467025 PMID:27751358 PMID:28492532 PMID:28724667 PMID:28779002 PMID:29356917 PMID:29922827 PMID:30287823 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624 		JBrowse link
Congenital Heart Defects, Multiple Types, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 OMIM
ClinVar		 PMID:25741868 PMID:27363585 PMID:28492532 PMID:29222010 PMID:29478779 PMID:29663647 NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473 		JBrowse link
Congenital Heart Defects, Multiple Types, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 ClinVar
OMIM		 PMID:22961344 PMID:23031282 PMID:23175127 PMID:24638895 PMID:25741868 NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465 		JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 OMIM
ClinVar		 PMID:28991257 PMID:30232381 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599 		JBrowse link
dextro-looped transposition of the great arteries 3 term browser
Symbol Object Name 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      congenital heart disease 1074
        Congenital Heart Defects, Multiple Types 8
          Congenital Heart Defects, Multiple Types, 1, X-Linked 1
          Congenital Heart Defects, Multiple Types, 2 1
          Congenital Heart Defects, Multiple Types, 3 1
          Congenital Heart Defects, Multiple Types, 4 1
          Congenital Heart Defects, Multiple Types, 5 1
          Congenital Heart Defects, Multiple Types, 7 1
          dextro-looped transposition of the great arteries 3 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Cardiovascular Abnormalities 1128
            congenital heart disease 1074
              Congenital Heart Defects, Multiple Types 8
                Congenital Heart Defects, Multiple Types, 1, X-Linked 1
                Congenital Heart Defects, Multiple Types, 2 1
                Congenital Heart Defects, Multiple Types, 3 1
                Congenital Heart Defects, Multiple Types, 4 1
                Congenital Heart Defects, Multiple Types, 5 1
                Congenital Heart Defects, Multiple Types, 7 1
                dextro-looped transposition of the great arteries 3 2
paths to the root