C61264Level 8
Maroteaux-Lamy Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness, otitis media, and respiratory illnesses.
**Synonyms:** - Mucopolysaccharidosis Type VI - Mucopolysaccharidosis VI
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