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skos:definition |
MSH: Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.,JABL: A syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis and congenital heart defects.,CSP: lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase; this disease differs from muchopolysaccharidosis I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance.,NCI: An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme idur
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