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GENE - TERM ANNOTATION REPORT

RGD ID: 12552701
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Gusb
Name: glucuronidase beta
Acc ID: DOID:12800
Term: mucopolysaccharidosis VI
Definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome "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)
Gusb ISOGUSB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maroteaux Lamy syndromePMID:12403825 PMID:12859417 PMID:19224584 PMID:25741868 PMID:26908836 PMID:28124119 PMID:28492532 PMID:28884947 PMID:29698805 PMID:30413728 PMID:30838730 PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904
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