| Metadata | |
|---|---|
| ID | DOID:0110323 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110323 Copy |
| Name | hypertrophic cardiomyopathy 17 |
| Definition | A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/17509612 |
| Xrefs | |
| Synonyms |
cardiomyopathy familial hypertrophic 17 [EXACT] CMH17 [EXACT] |
| Parent Relationships |