Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE
Synonyms	SIALURIA
ID	http://purl.bioontology.org/ontology/OMIM/603824
altLabel	SIALURIA NONAKA MYOPATHY GNE GLCNE
cui	C1428183 C0342853 C1853926
Gene Locus	9p13.3
Gene Symbol	DMRV NM IBM2 GNE GLCNE
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/603824.0001 http://purl.bioontology.org/ontology/OMIM/603824.0003 http://purl.bioontology.org/ontology/OMIM/603824.0013 http://purl.bioontology.org/ontology/OMIM/603824.0014 http://purl.bioontology.org/ontology/OMIM/603824.0016 http://purl.bioontology.org/ontology/OMIM/603824.0008 http://purl.bioontology.org/ontology/OMIM/603824.0007 http://purl.bioontology.org/ontology/OMIM/603824.0015 http://purl.bioontology.org/ontology/OMIM/603824.0009 http://purl.bioontology.org/ontology/OMIM/603824.0010 http://purl.bioontology.org/ontology/OMIM/603824.0012 http://purl.bioontology.org/ontology/OMIM/603824.0011 http://purl.bioontology.org/ontology/OMIM/603824.0005 http://purl.bioontology.org/ontology/OMIM/603824.0006 http://purl.bioontology.org/ontology/OMIM/603824.0017 http://purl.bioontology.org/ontology/OMIM/603824.0002
MIMTYPEMEANING	Gene with known sequence
notation	603824
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE
tui	T028 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D029461	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C482901	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/LNC/LP36781-0	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/MESH/C536816	Medical Subject Headings	CUI