Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	NONAKA MYOPATHY
Synonyms	INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING
ID	http://purl.bioontology.org/ontology/OMIM/605820
altLabel	INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING NM MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES NONAKA DISTAL MYOPATHY HIBM QSM INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY GNE MYOPATHY IBM2, FORMERLY INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE
cui	C1853926
Gene Locus	9p13.3
Gene Symbol	DMRV NM IBM2 GNE GLCNE
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004327 http://purl.bioontology.org/ontology/OMIM/MTHU004325 http://purl.bioontology.org/ontology/OMIM/MTHU004335 http://purl.bioontology.org/ontology/OMIM/MTHU004329 http://purl.bioontology.org/ontology/OMIM/MTHU004333 http://purl.bioontology.org/ontology/OMIM/MTHU004323 http://purl.bioontology.org/ontology/OMIM/MTHU004331 http://purl.bioontology.org/ontology/OMIM/MTHU029487 http://purl.bioontology.org/ontology/OMIM/MTHU004324 http://purl.bioontology.org/ontology/OMIM/MTHU033373 http://purl.bioontology.org/ontology/OMIM/MTHU004326 http://purl.bioontology.org/ontology/OMIM/MTHU004328 http://purl.bioontology.org/ontology/OMIM/MTHU004196 http://purl.bioontology.org/ontology/OMIM/MTHU004332 http://purl.bioontology.org/ontology/OMIM/MTHU004330 http://purl.bioontology.org/ontology/OMIM/MTHU004336
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	600737
notation	605820
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	NONAKA MYOPATHY
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536816	Medical Subject Headings	CUI