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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
For additional species annotation, visit the Alliance of Genome Resources.



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arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar
PMID:10902626 PMID:16467215 PMID:19863551 PMID:20031617 PMID:20857253 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      congenital heart disease 1191
        arrhythmogenic right ventricular cardiomyopathy 103
          arrhythmogenic right ventricular dysplasia 12 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                arrhythmogenic right ventricular dysplasia 12 1
paths to the root