Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE
Synonyms	HGSNAT
ID	http://purl.bioontology.org/ontology/OMIM/610453
altLabel	HGSNAT TRANSMEMBRANE PROTEIN 76 RETINITIS PIGMENTOSA 73 MUCOPOLYSACCHARIDOSIS, TYPE IIIC TMEM76
cui	C0086649 C1825466 C4225287
Gene Locus	8p11.1
Gene Symbol	HGSNAT MPS3C RP73 TMEM76
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/610453.0014 http://purl.bioontology.org/ontology/OMIM/610453.0006 http://purl.bioontology.org/ontology/OMIM/610453.0002 http://purl.bioontology.org/ontology/OMIM/610453.0007 http://purl.bioontology.org/ontology/OMIM/610453.0010 http://purl.bioontology.org/ontology/OMIM/610453.0008 http://purl.bioontology.org/ontology/OMIM/610453.0011 http://purl.bioontology.org/ontology/OMIM/610453.0012 http://purl.bioontology.org/ontology/OMIM/610453.0003 http://purl.bioontology.org/ontology/OMIM/610453.0005 http://purl.bioontology.org/ontology/OMIM/610453.0004 http://purl.bioontology.org/ontology/OMIM/610453.0009 http://purl.bioontology.org/ontology/OMIM/610453.0001 http://purl.bioontology.org/ontology/OMIM/610453.0013
MIMTYPEMEANING	Gene with known sequence
notation	610453
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE
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/D009084	Medical Subject Headings	CUI
http://purl.obolibrary.org/obo/PR_000008537	Protein Ontology	LOOM