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Concept information

Preferred term

Mucopolysaccharidosis II  

Type

  • Topical Descriptor

Entry terms

  • Gargoylism, Hunter Syndrome
  • Hunter's Syndrome
  • Hunters Syndrome
  • Hunter Syndrome
  • Hunter Syndrome Gargoylism
  • Mucopolysaccharidosis 2
  • Mucopolysaccharidosis Type 2
  • Mucopolysaccharidosis Type II
  • Syndrome, Hunter
  • Syndrome, Hunter's

Scope note

  • 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.

History note

  • 1992; for MUCOPOLYSACCHARIDOSIS 2 and HUNTER'S SYNDROME use LIPOCHONDRODYSTROPHY 1976-1991

In other languages

  • Finnish

  • Hunter
  • Hunterin oireyhtymä
  • Hunterin syndrooma
  • Hunters syndrom
  • II tyypin mukopolysakkaridoosi
  • mucopolysaccharidosis II
  • mucopolysaccharidosis typus II
  • mukopolysackaridos, typ II
  • syndroma Hunter
  • Swedish

  • Hunters syndrom
  • Iduronatsulfatasbrist
  • MPS II

URI

http://www.yso.fi/onto/mesh/D016532

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