Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ASPARTYLGLUCOSAMINIDASE
Synonyms	GLYCOSYLASPARAGINASE
ID	http://purl.bioontology.org/ontology/OMIM/613228
altLabel	GLYCOSYLASPARAGINASE AGA ASPARTYLGLUCOSAMINURIA ASPARTYLGLUCOSAMINURIA, FINNISH TYPE
cui	C0268225 C1412276 C4017301
Gene Locus	4q32-q33
Gene Symbol	AGA
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/613228.0009 http://purl.bioontology.org/ontology/OMIM/613228.0007 http://purl.bioontology.org/ontology/OMIM/613228.0010 http://purl.bioontology.org/ontology/OMIM/613228.0003 http://purl.bioontology.org/ontology/OMIM/613228.0004 http://purl.bioontology.org/ontology/OMIM/613228.0012 http://purl.bioontology.org/ontology/OMIM/613228.0005 http://purl.bioontology.org/ontology/OMIM/613228.0006 http://purl.bioontology.org/ontology/OMIM/613228.0001 http://purl.bioontology.org/ontology/OMIM/613228.0008 http://purl.bioontology.org/ontology/OMIM/613228.0002
MIMTYPEMEANING	Gene with known sequence
notation	613228
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ASPARTYLGLUCOSAMINIDASE
tui	T028 T033 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E77.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/LNC/MTHU011618	Logical Observation Identifier Names and Codes	LOOM
http://purl.bioontology.org/ontology/MESH/D054880	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP188488-3	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/LNC/LP14017-5	Logical Observation Identifier Names and Codes	LOOM