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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:arrhythmogenic right ventricular dysplasia 2
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Accession:DOID:0110071 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43. (DO)
Synonyms:exact_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 2;   ARVC2;   ARVD2;   Arrhythmogenic Right Ventricular Cardiomyopathy 2;   familial arrhythmogenic right ventricular dysplasia 2
 primary_id: MESH:C563409
 alt_id: OMIM:600996;   RDO:0012672
For additional species annotation, visit the Alliance of Genome Resources.


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arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by OMIM:600996
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2
OMIM
ClinVar
PMID:11159936 PMID:12106942 PMID:15364606 PMID:15364613 PMID:15466642 PMID:15544015 PMID:16188589 PMID:16239587 PMID:16272262 PMID:16769042 PMID:17062961 PMID:17558603 PMID:18326664 PMID:18752142 PMID:19398665 PMID:19597050 PMID:19709828 PMID:19926015 PMID:21315846 PMID:21616285 PMID:21659649 PMID:21964171 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22396703 PMID:22677073 PMID:22787013 PMID:22828895 PMID:23022705 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23595086 PMID:23820649 PMID:23861362 PMID:23871484 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25351510 PMID:25440180 PMID:25467552 PMID:25637381 PMID:25650408 PMID:25741868 PMID:25844899 PMID:25925909 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26272908 PMID:26332594 PMID:26498160 PMID:26633542 PMID:26656175 PMID:26704558 PMID:26743238 PMID:26899768 PMID:27054166 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27538377 PMID:27727376 PMID:27756708 PMID:27930701 PMID:28404607 PMID:28422759 PMID:28449774 PMID:28492532 PMID:29247119 PMID:29453246 PMID:29511324 PMID:29555771 PMID:30086531 PMID:30311386 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      congenital heart disease 1074
        arrhythmogenic right ventricular cardiomyopathy 96
          arrhythmogenic right ventricular dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                arrhythmogenic right ventricular dysplasia 2 1
paths to the root