Metadata | |
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ID | DOID:0110310 |
Name | hypertrophic cardiomyopathy 4 |
Definition | A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/7493025, https://www.ncbi.nlm.nih.gov/pubmed/7493026 |
Xrefs | |
Synonyms |
cardiomyopathy, familial hypertrophic, 4 [EXACT] CMH4 [EXACT] |
Parent Relationships |