Metadata | |
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ID | DOID:0110323 |
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 |