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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:arrhythmogenic right ventricular dysplasia 12
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Accession:DOID:0110083 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. (DO)
Synonyms:exact_synonym: ARVC12;   ARVD12;   arrhythmogenic right ventricular cardiomyopathy 12;   familial arrhythmogenic right ventricular dysplasia 12
 primary_id: MESH:C566925
 alt_id: OMIM:611528


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      congenital heart disease 1343
        arrhythmogenic right ventricular cardiomyopathy 115
          arrhythmogenic right ventricular dysplasia 12 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10253
            autosomal genetic disease 9439
              autosomal dominant disease 6185
                arrhythmogenic right ventricular dysplasia 12 1
paths to the root