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ONTOLOGY REPORT - ANNOTATIONS


Term:arrhythmogenic right ventricular dysplasia 8
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Accession:DOID:0110076 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. (DO)
Synonyms:exact_synonym: ARVC8;   ARVD8;   arrhythmogenic right ventricular cardiomyopathy 8;   arrhythmogenic right ventricular cardiomyopathy, type 8;   familial arrhythmogenic right ventricular dysplasia 8
 primary_id: MESH:C564400
 alt_id: OMIM:607450;   RDO:0013377
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arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      congenital heart disease 863
        arrhythmogenic right ventricular cardiomyopathy 84
          arrhythmogenic right ventricular dysplasia 8 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Cardiovascular Abnormalities 916
            congenital heart disease 863
              arrhythmogenic right ventricular cardiomyopathy 84
                arrhythmogenic right ventricular dysplasia 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.