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Metadata
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

OMIM:115197

Synonyms

cardiomyopathy, familial hypertrophic, 4 [EXACT]

CMH4 [EXACT]

Parent Relationships

is_a familial hypertrophic cardiomyopathy

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