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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 11
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Accession:DOID:0110082 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. (DO)
Synonyms:exact_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11;   ARVC11;   ARVD11;   familial arrhythmogenic right ventricular dysplasia 11;   familial arrhythmogenic right ventricular dysplasia 11, and mild palmoplantar keratoderma with or without woolly hair;   familial arrhythmogenic right ventricular dysplasia 11, with mild palmoplantar keratoderma and woolly hair;   familial arrhythmogenic right ventricular dysplasia 11, with or without mild palmoplantar keratoderma
 narrow_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11
 primary_id: MESH:C566471
 alt_id: OMIM:610476


show annotations for term's descendants           Sort by:
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair OMIM
ClinVar		 PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305 		JBrowse link
G DSC3 desmocollin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:114,916,759...114,963,688
Ensembl chr 6:114,916,767...114,963,609 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      congenital heart disease 1320
        arrhythmogenic right ventricular cardiomyopathy 116
          arrhythmogenic right ventricular dysplasia 11 2
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      cardiovascular system disease 4328
        heart disease 3042
          cardiomyopathy 1231
            intrinsic cardiomyopathy 873
              arrhythmogenic right ventricular cardiomyopathy 116
                arrhythmogenic right ventricular dysplasia 11 2
paths to the root