Term Name: | hypertrophic cardiomyopathy 17 |
---|---|
Synonyms: | cardiomyopathy familial hypertrophic 17, CMH17 |
Definition: | A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. |
Ontology: | Human Disease [DOID:0110323] ( DOID:0110323 ) |