Search Ontology:
Human Disease

arrhythmogenic right ventricular dysplasia 12

Term ID
DOID:0110083
Synonyms
  • arrhythmogenic right ventricular cardiomyopathy 12
  • ARVC12
  • ARVD12
  • familial arrhythmogenic right ventricular dysplasia 12
Definition
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/17924338/
References
Ontology
Human Disease   ( DOID:0110083 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations