C84903Level 8
Sly Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** 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.
**Synonyms:** - Beta-Glucuronidase Deficiency - Mucopolysaccharidosis Type VII
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