Disease or Syndrome
mucopolysaccharidosis vii
Subclass of:
Mucopolysaccharidoses
Definitions related to mucopolysaccharidosis vii:
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(sly syndrome) 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.NCI ThesaurusU.S. National Cancer Institute, 2021
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Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax...National Center for Advancing Translational Sciences
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