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Keyword Mucopolysaccharidosis

UniProtKB (15) rdf/xml obo
DefinitionProtein which, if defective, causes mucopolysaccharidosis. These inherited diseases are characterized by excessive accumulation and secretion of oligomucopoloysaccharide due to the deficiency of enzymes involved in the degradation of glycosaminoglycans (mucopolysaccharides). They are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.