ONTOLOGY REPORT - ANNOTATIONS


Term:arrhythmogenic right ventricular dysplasia 1
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Accession:DOID:0110070 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 1;   ARVC1;   ARVD1;   familial arrhythmogenic right ventricular dysplasia 1
 narrow_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1;   ARVC1 UHL ANOMALY;   CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED
 primary_id: MESH:C566254
 alt_id: OMIM:107970;   RDO:0014659
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arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872

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Path 1
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  disease 14875
    Developmental Diseases 7711
      congenital heart disease 729
        arrhythmogenic right ventricular cardiomyopathy 86
          arrhythmogenic right ventricular dysplasia 1 4
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Cardiovascular Abnormalities 780
            congenital heart disease 729
              arrhythmogenic right ventricular cardiomyopathy 86
                arrhythmogenic right ventricular dysplasia 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.