ONTOLOGY REPORT - ANNOTATIONS


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;   ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR;   ARVC11;   ARVD11;   familial arrhythmogenic right ventricular dysplasia 11;   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;   RDO:0014815
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arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:7240710
RGD:8554872

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  disease 14823
    Developmental Diseases 7637
      congenital heart disease 729
        arrhythmogenic right ventricular cardiomyopathy 86
          arrhythmogenic right ventricular dysplasia 11 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      cardiovascular system disease 4055
        heart disease 2226
          cardiomyopathy 898
            intrinsic cardiomyopathy 566
              arrhythmogenic right ventricular cardiomyopathy 86
                arrhythmogenic right ventricular dysplasia 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.