Summary Literature (0)

DOID:12803 - mucopolysaccharidosis type VII

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

Xenbase Genes : gusb

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009662 - hindbrain nucleus

MIM:

MIM:253220 - MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee