Online Mendelian Inheritance in Man - MYOPATHY, MYOFIBRILLAR, 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/601419 http://purl.bioontology.org/ontology/OMIM/601419
Preferred Name	MYOPATHY, MYOFIBRILLAR, 1
Synonyms	DESMIN-RELATED MYOPATHY ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7, FORMERLY CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY ARVD7, FORMERLY DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D, FORMERLY LGMD2R, FORMERLY MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FORMERLY DESMINOPATHY, PRIMARY ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 7, FORMERLY MFM1 CMD1F AND LGMD1D, FORMERLY DRM CDCD3, FORMERLY IBM1, FORMERLY MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED ARVC7, FORMERLY See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DESMIN-RELATED MYOPATHY ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7, FORMERLY CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY ARVD7, FORMERLY DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D, FORMERLY LGMD2R, FORMERLY MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FORMERLY DESMINOPATHY, PRIMARY ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 7, FORMERLY MFM1 CMD1F AND LGMD1D, FORMERLY DRM CDCD3, FORMERLY IBM1, FORMERLY MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED ARVC7, FORMERLY See more See less
prefLabel	MYOPATHY, MYOFIBRILLAR, 1
Gene Symbol	CMD1I SCPNK MFM1 DES
Scope Statement	Caused by mutation in the desmin gene (DES, 125660.0001) [MOLECULAR BASIS] Variable phenotype [MISCELLANEOUS] Autosomal dominant and autosomal recessive forms [MISCELLANEOUS] Onset usually in second or third decades [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU022533 http://purl.bioontology.org/ontology/OMIM/MTHU002870 http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU000345 http://purl.bioontology.org/ontology/OMIM/MTHU002274 http://purl.bioontology.org/ontology/OMIM/MTHU006032 http://purl.bioontology.org/ontology/OMIM/MTHU006031 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU042518 http://purl.bioontology.org/ontology/OMIM/MTHU000988 http://purl.bioontology.org/ontology/OMIM/MTHU022535 http://purl.bioontology.org/ontology/OMIM/MTHU005871 http://purl.bioontology.org/ontology/OMIM/MTHU006030 http://purl.bioontology.org/ontology/OMIM/MTHU000788 http://purl.bioontology.org/ontology/OMIM/MTHU022536 http://purl.bioontology.org/ontology/OMIM/MTHU001654 http://purl.bioontology.org/ontology/OMIM/MTHU042519 http://purl.bioontology.org/ontology/OMIM/MTHU042085 http://purl.bioontology.org/ontology/OMIM/MTHU036957 http://purl.bioontology.org/ontology/OMIM/MTHU065590 http://purl.bioontology.org/ontology/OMIM/MTHU006029 See more See less
tui	T047
Gene Locus	2q35
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601419
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1832370
Moved from	609160 615325 147420 602067
OMIM Entry Type	3
OMIM MimType Value	pound

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