Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	MYOPATHY, CENTRONUCLEAR, 1
Synonyms	CNM1
ID	http://purl.bioontology.org/ontology/OMIM/160150
altLabel	CNM1 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT
cui	C1834558
Gene Locus	3p25.3
Gene Symbol	C3orf29 HJUMPY MTMR14
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU021643 http://purl.bioontology.org/ontology/OMIM/MTHU000357 http://purl.bioontology.org/ontology/OMIM/MTHU041365 http://purl.bioontology.org/ontology/OMIM/MTHU036967 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU020624 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU041367 http://purl.bioontology.org/ontology/OMIM/MTHU000990 http://purl.bioontology.org/ontology/OMIM/MTHU001543 http://purl.bioontology.org/ontology/OMIM/MTHU020625 http://purl.bioontology.org/ontology/OMIM/MTHU041366 http://purl.bioontology.org/ontology/OMIM/MTHU036968 http://purl.bioontology.org/ontology/OMIM/MTHU036966 http://purl.bioontology.org/ontology/OMIM/MTHU000329
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	160150
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MYOPATHY, CENTRONUCLEAR, 1
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D020914	Medical Subject Headings	CUI