Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	N-SULFOGLUCOSAMINE SULFOHYDROLASE
Synonyms	SGSH
ID	http://purl.bioontology.org/ontology/OMIM/605270
altLabel	SGSH MUCOPOLYSACCHARIDOSIS, TYPE IIIA SULFAMIDASE MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED HEPARAN SULFATE SULFATASE HSS
cui	C4225539 C1420015 C0086647
Gene Locus	17q25.3
Gene Symbol	MPS3A SGSH SFMD
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/605270.0010 http://purl.bioontology.org/ontology/OMIM/605270.0011 http://purl.bioontology.org/ontology/OMIM/605270.0012 http://purl.bioontology.org/ontology/OMIM/605270.0003 http://purl.bioontology.org/ontology/OMIM/605270.0004 http://purl.bioontology.org/ontology/OMIM/605270.0005 http://purl.bioontology.org/ontology/OMIM/605270.0001 http://purl.bioontology.org/ontology/OMIM/605270.0002 http://purl.bioontology.org/ontology/OMIM/605270.0013 http://purl.bioontology.org/ontology/OMIM/605270.0006 http://purl.bioontology.org/ontology/OMIM/605270.0007 http://purl.bioontology.org/ontology/OMIM/605270.0008 http://purl.bioontology.org/ontology/OMIM/605270.0009
MIMTYPEMEANING	Gene with known sequence
notation	605270
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	N-SULFOGLUCOSAMINE SULFOHYDROLASE
tui	T028 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E76.22	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/C022708	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/MESH/D009084	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP61789-1	Logical Observation Identifier Names and Codes	CUI