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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
 xref: ICD10CM:I42.8;   ICD10CM:Q24.8
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Path 1
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  disease 0
    Developmental Diseases 0
      congenital heart disease 0
        arrhythmogenic right ventricular cardiomyopathy 0
          arrhythmogenic right ventricular dysplasia 1 0
Path 2
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  disease 0
    Developmental Diseases 0
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0
        Congenital Abnormalities 0
          Cardiovascular Abnormalities 0
            congenital heart disease 0
              arrhythmogenic right ventricular cardiomyopathy 0
                arrhythmogenic right ventricular dysplasia 1 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.