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

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT
Synonyms	SPMM CMYP7A SPMD MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS SCAPULOPERONEAL MUSCULAR DYSTROPHY SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE SCAPULOPERONEAL MYOPATHY, MYH7-RELATED MSMA MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT
ID	http://purl.bioontology.org/ontology/OMIM/608358
altLabel	SPMM CMYP7A SPMD MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS SCAPULOPERONEAL MUSCULAR DYSTROPHY SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE SCAPULOPERONEAL MYOPATHY, MYH7-RELATED MSMA MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT
cui	C4759774
Gene Locus	14q12
Gene Symbol	MYH7 CMH1 MPD1 CMYP7A CMYP7B CMD1S
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
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	181430 608590
notation	608358
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT
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]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/129620000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C564253	MESH	CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.09	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/129620000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D020389	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0008409	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008409	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008409	EFO	LOOM