Online Mendelian Inheritance in Man - CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608358 http://purl.bioontology.org/ontology/OMIM/608358
Preferred Name	CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT
Synonyms	SPMM SPMD MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS SCAPULOPERONEAL MUSCULAR DYSTROPHY CMYO7A SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE SCAPULOPERONEAL MYOPATHY, MYH7-RELATED MSMA MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPMM SPMD MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS SCAPULOPERONEAL MUSCULAR DYSTROPHY CMYO7A SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE SCAPULOPERONEAL MYOPATHY, MYH7-RELATED MSMA MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT See more See less
prefLabel	CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT
Gene Symbol	CMYO7A MYH7 CMH1 MPD1 CMYO7B CMD1S See more See less
Scope Statement	Slowly progressive [MISCELLANEOUS] Intrafamilial variability [MISCELLANEOUS] Clinical variability [MISCELLANEOUS] Caused by mutation in the beta cardiac myosin heavy chain gene (MYH7, 160760.0028) [MOLECULAR BASIS] Onset ranges from childhood to adulthood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003664 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU000901 http://purl.bioontology.org/ontology/OMIM/MTHU061182 http://purl.bioontology.org/ontology/OMIM/MTHU020187 http://purl.bioontology.org/ontology/OMIM/MTHU076692 http://purl.bioontology.org/ontology/OMIM/MTHU005165 http://purl.bioontology.org/ontology/OMIM/MTHU002278 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU002639 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU076695 http://purl.bioontology.org/ontology/OMIM/MTHU002277 http://purl.bioontology.org/ontology/OMIM/MTHU000381 http://purl.bioontology.org/ontology/OMIM/MTHU000990 http://purl.bioontology.org/ontology/OMIM/MTHU002207 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU053095 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU076693 http://purl.bioontology.org/ontology/OMIM/MTHU002280 http://purl.bioontology.org/ontology/OMIM/MTHU002273 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU002270 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU002269 http://purl.bioontology.org/ontology/OMIM/MTHU021643 http://purl.bioontology.org/ontology/OMIM/MTHU076694 http://purl.bioontology.org/ontology/OMIM/MTHU022723 http://purl.bioontology.org/ontology/OMIM/MTHU076565 http://purl.bioontology.org/ontology/OMIM/MTHU001698 http://purl.bioontology.org/ontology/OMIM/MTHU000344 http://purl.bioontology.org/ontology/OMIM/MTHU000730 http://purl.bioontology.org/ontology/OMIM/MTHU049445 See more See less
tui	T047
Gene Locus	14q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608358
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4759774
Moved from	181430 608590
OMIM Entry Type	3
OMIM MimType Value	pound

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