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Echinobase
Summary Literature (0)
DOID:12803 - Sly syndrome

Disease Ontology Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.

Synonyms: MPS VII - Sly syndrome, beta-glucuronidase deficiency, deficiency of beta-glucuronidase, mucopolysaccharidosis VII,

Echinobase Genes : gusb


OMIM:
MIM:253220 - mucopolysaccharidosis, type vii; mps7

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): mucopolysaccharidosis (is_a)