Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/612098 http://purl.bioontology.org/ontology/OMIM/612098
Preferred Name	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11
Synonyms	CMH11
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMH11
prefLabel	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11
Gene Symbol	LVNC4 CMH11 ACTC1 CMD1R ASD5
Scope Statement	Highly penetrant, but low morbidity [MISCELLANEOUS] Caused by mutation in the cardiac muscle alpha actin gene (ACTC1, 102540.0003) [MOLECULAR BASIS] Early onset in some patients [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU021465 http://purl.bioontology.org/ontology/OMIM/MTHU037139 http://purl.bioontology.org/ontology/OMIM/MTHU036522
tui	T047
Gene Locus	15q14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612098
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2677506
OMIM Entry Type	3
OMIM MimType Value	pound

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