hypertrophic cardiomyopathy 6

Term ID

DOID:0110312

Synonyms

• cardiomyopathy, familial hypertrophic 6
• CMH6

Definition

A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). https://www.ncbi.nlm.nih.gov/pubmed/11586962

References

• OMIM:600858

Ontology

Human Disease   ( DOID:0110312 )