Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/604765 http://purl.bioontology.org/ontology/OMIM/604765
Preferred Name	CARDIOMYOPATHY, DILATED, 1I
Synonyms	CMD1I
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMD1I
prefLabel	CARDIOMYOPATHY, DILATED, 1I
Gene Symbol	CMD1I SCPNK MFM1 DES
Scope Statement	Sudden death (in some patients) [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Caused by mutation in the desmin gene (DES, 125660.0005) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006249 http://purl.bioontology.org/ontology/OMIM/MTHU065640 http://purl.bioontology.org/ontology/OMIM/MTHU002870 http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU065636 http://purl.bioontology.org/ontology/OMIM/MTHU065638 http://purl.bioontology.org/ontology/OMIM/MTHU065641 http://purl.bioontology.org/ontology/OMIM/MTHU036393 http://purl.bioontology.org/ontology/OMIM/MTHU065635 http://purl.bioontology.org/ontology/OMIM/MTHU022492 http://purl.bioontology.org/ontology/OMIM/MTHU065637 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU065642 http://purl.bioontology.org/ontology/OMIM/MTHU065639 http://purl.bioontology.org/ontology/OMIM/MTHU036516 See more See less
tui	T047
Gene Locus	2q35
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	604765
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1858154
OMIM Entry Type	3
OMIM MimType Value	pound

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