Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615248 http://purl.bioontology.org/ontology/OMIM/615248
Preferred Name	CARDIOMYOPATHY, DILATED, 1KK
Synonyms	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 CMD1KK CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22 CMH22 RCM4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 CMD1KK CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22 CMH22 RCM4
prefLabel	CARDIOMYOPATHY, DILATED, 1KK
Gene Symbol	CMYO24 RCM4 CMD1DD MYPN CMH22
Scope Statement	Patients often require cardiac transplantation [MISCELLANEOUS] Caused by mutation in the myopalladin gene (MYPN, 608517.0001) [MOLECULAR BASIS] Some patients exhibit features of more than 1 type of cardiomyopathy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006249 http://purl.bioontology.org/ontology/OMIM/MTHU020244 http://purl.bioontology.org/ontology/OMIM/MTHU038926 http://purl.bioontology.org/ontology/OMIM/MTHU019869 http://purl.bioontology.org/ontology/OMIM/MTHU024747 http://purl.bioontology.org/ontology/OMIM/MTHU063251 http://purl.bioontology.org/ontology/OMIM/MTHU069590 http://purl.bioontology.org/ontology/OMIM/MTHU005753 http://purl.bioontology.org/ontology/OMIM/MTHU011914 http://purl.bioontology.org/ontology/OMIM/MTHU065639 See more See less
tui	T047
Gene Locus	10q21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615248
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3714995 C3808963 C3714998
OMIM Entry Type	3
OMIM MimType Value	pound

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