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skos:definition |
MSH: Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).,CSP: mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness; caused by a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase).,NCI: 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.,JABL: An inborn error of metabolism characterized by arylsulfatase B (EC 3.1.6.12) deficiency preventing degradation of mucopolysaccharides with their accumulation in soft tissues causing obstructions and compression of the blood vessels, trachea, and peripheral nerves, and disruption of normal bone development, associated with the phenotype similar to that in MPS I but generally normal inte
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