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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 14
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Accession:DOID:0080959 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)
Synonyms:exact_synonym: ARVC14;   ARVD14;   arrhythmogenic right ventricular cardiomyopathy 14;   familial arrhythmogenic right ventricular dysplasia 14
 primary_id: OMIM:618920
 alt_id: DOID:9005146
For additional species annotation, visit the Alliance of Genome Resources.


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arrhythmogenic right ventricular dysplasia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 OMIM
ClinVar
PMID:28280076 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      congenital heart disease 1080
        arrhythmogenic right ventricular cardiomyopathy 97
          arrhythmogenic right ventricular dysplasia 14 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                arrhythmogenic right ventricular dysplasia 14 1
paths to the root