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GENE - TERM ANNOTATION REPORT

RGD ID: 1623253
Species: Mus musculus
RGD Object: Gene
Symbol: Hgsnat
Name: heparan-alpha-glucosaminide N-acetyltransferase
Acc ID: DOID:12798
Term: mucopolysaccharidosis
Definition: A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Mucopolysaccharidosis "DO" "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Hgsnat ISOHGSNAT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MucopolysaccharidosisPMID:17033958 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:25741868 PMID:27827379 PMID:28492532 PMID:31228227 PMID:31536183
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