Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	N-ACETYLGLUCOSAMINE-6-SULFATASE
Synonyms	G6S
ID	http://purl.bioontology.org/ontology/OMIM/607664
altLabel	G6S GLUCOSAMINE-6-SULFATASE GNS MUCOPOLYSACCHARIDOSIS, TYPE IIID
cui	C1415172 C0086650
Gene Locus	12q14
Gene Symbol	G6S GNS
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/607664.0003 http://purl.bioontology.org/ontology/OMIM/607664.0004 http://purl.bioontology.org/ontology/OMIM/607664.0005 http://purl.bioontology.org/ontology/OMIM/607664.0001 http://purl.bioontology.org/ontology/OMIM/607664.0002
MIMTYPEMEANING	Gene with known sequence
notation	607664
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	N-ACETYLGLUCOSAMINE-6-SULFATASE
tui	T028 T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000008129	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E76.22	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/C018719	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/MESH/D009084	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP14033-2	Logical Observation Identifier Names and Codes	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU027311	Logical Observation Identifier Names and Codes	LOOM