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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 chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843 		JBrowse link
G DSC3 desmocollin 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:24,220,429...24,273,547
Ensembl chr18:27,817,639...27,871,602 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      congenital heart disease 1343
        arrhythmogenic right ventricular cardiomyopathy 115
          arrhythmogenic right ventricular dysplasia 11 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      cardiovascular system disease 4333
        heart disease 3028
          cardiomyopathy 1202
            intrinsic cardiomyopathy 870
              arrhythmogenic right ventricular cardiomyopathy 115
                arrhythmogenic right ventricular dysplasia 11 2
paths to the root