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

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
Synonyms	MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
ID	http://purl.bioontology.org/ontology/OMIM/608358
altLabel	MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT MSMA
cui	C1842160
Gene Locus	14q12
Gene Symbol	MYH7 SPMM CMD1S CMH1 SPMD MPD1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU029747 http://purl.bioontology.org/ontology/OMIM/MTHU002280 http://purl.bioontology.org/ontology/OMIM/MTHU002276 http://purl.bioontology.org/ontology/OMIM/MTHU002284 http://purl.bioontology.org/ontology/OMIM/MTHU000357 http://purl.bioontology.org/ontology/OMIM/MTHU002277 http://purl.bioontology.org/ontology/OMIM/MTHU002271 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU002278 http://purl.bioontology.org/ontology/OMIM/MTHU002281 http://purl.bioontology.org/ontology/OMIM/MTHU029746 http://purl.bioontology.org/ontology/OMIM/MTHU000901 http://purl.bioontology.org/ontology/OMIM/MTHU002275 http://purl.bioontology.org/ontology/OMIM/MTHU002273 http://purl.bioontology.org/ontology/OMIM/MTHU002285 http://purl.bioontology.org/ontology/OMIM/MTHU002283 http://purl.bioontology.org/ontology/OMIM/MTHU029745 http://purl.bioontology.org/ontology/OMIM/MTHU002279 http://purl.bioontology.org/ontology/OMIM/MTHU002269 http://purl.bioontology.org/ontology/OMIM/MTHU002274 http://purl.bioontology.org/ontology/OMIM/MTHU002272 http://purl.bioontology.org/ontology/OMIM/MTHU002270
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	608590
notation	608358
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564253	Medical Subject Headings	CUI