arrhythmogenic right ventricular dysplasia 9

Summary
Synonym
  • ARVC9
  • ARVD9
  • arrhythmogenic right ventricular cardiomyopathy 9
  • familial arrhythmogenic right ventricular dysplasia 9
Definition
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.
Super Class
arrhythmogenic right ventricular cardiomyopathy autosomal dominant disease
Disease Ontology
DOID:0110077
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5318 PKP2 plakophilin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
67451 Pkp2 plakophilin 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024