ONTOLOGY REPORT - ANNOTATIONS


Term:arrhythmogenic right ventricular dysplasia 9
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Accession:DOID:0110077 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. (DO)
Synonyms:exact_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 9;   ARVC9;   ARVD9;   Arrhythmogenic Right Ventricular Cardiomyopathy 9;   familial arrhythmogenic right ventricular dysplasia 9
 primary_id: MESH:C563808
 alt_id: OMIM:609040;   RDO:0012973
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arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:7240710
RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872

Term paths to the root
Path 1
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  disease 14823
    Developmental Diseases 7637
      congenital heart disease 729
        arrhythmogenic right ventricular cardiomyopathy 86
          arrhythmogenic right ventricular dysplasia 9 15
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Cardiovascular Abnormalities 780
            congenital heart disease 729
              arrhythmogenic right ventricular cardiomyopathy 86
                arrhythmogenic right ventricular dysplasia 9 15
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.