Online Mendelian Inheritance in Man - MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
Synonyms	MSMB
ID	http://purl.bioontology.org/ontology/OMIM/255160
altLabel	MSMB MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE
cui	C1850709
Gene Locus	14q12
Gene Symbol	MYH7 SPMM CMD1S CMH1 SPMD MPD1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002284 http://purl.bioontology.org/ontology/OMIM/MTHU012782 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU037735 http://purl.bioontology.org/ontology/OMIM/MTHU030202 http://purl.bioontology.org/ontology/OMIM/MTHU049073 http://purl.bioontology.org/ontology/OMIM/MTHU010876 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU002278 http://purl.bioontology.org/ontology/OMIM/MTHU049071 http://purl.bioontology.org/ontology/OMIM/MTHU010874 http://purl.bioontology.org/ontology/OMIM/MTHU010872 http://purl.bioontology.org/ontology/OMIM/MTHU000730 http://purl.bioontology.org/ontology/OMIM/MTHU000874 http://purl.bioontology.org/ontology/OMIM/MTHU002279 http://purl.bioontology.org/ontology/OMIM/MTHU002269 http://purl.bioontology.org/ontology/OMIM/MTHU000349 http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU049072 http://purl.bioontology.org/ontology/OMIM/MTHU010875 http://purl.bioontology.org/ontology/OMIM/MTHU010873 http://purl.bioontology.org/ontology/OMIM/MTHU049074 http://purl.bioontology.org/ontology/OMIM/MTHU010871 http://purl.bioontology.org/ontology/OMIM/MTHU002270
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	255160
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564970	Medical Subject Headings	CUI