hypertrophic cardiomyopathy 18

Summary
Synonym
  • CMH18
  • cardiomyopathy familial hypertrophic 18
Definition
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.
Super Class
familial hypertrophic cardiomyopathy
Disease Ontology
DOID:0110324
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
64672 Pln phospholamban

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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