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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:9536098 PMID:11159936 PMID:12106942 PMID:15364606 PMID:15364613 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      congenital heart disease 1088
        arrhythmogenic right ventricular cardiomyopathy 98
          arrhythmogenic right ventricular dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                arrhythmogenic right ventricular dysplasia 2 1
paths to the root