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skos:definition |
MSH: Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.,JABL: An inborn error of metabolism characterized by beta-glucuronidase (EC 3.2.1.31) deficiency with abnormal storage of mucopolysaccharides in various tissues. The phenotype consists mainly of short stature, hepatosplenomegaly, dysostosis multiplex, and mild mental retardation. Type I is the most severe with hydrops fetalis, coarse facies with hypertelorism and depressed nasal bridge, cloudy corneae, and onset of symptoms at birth. Type II has a less severe course with moderate Huurler facies and hypertelorism and onset at 2 to 3 years. Type III has the mildest symptoms with onset during adolescence.,NCI: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and mental retardation.
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