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disease > genetic disease > hereditary disease > mucopolysaccharidosis > Hurler syndrome

disease > diseases of the osteoarticular system > mucopolysaccharidosis > Hurler syndrome

disease > metabolic diseases > mucopolysaccharidosis > Hurler syndrome

disease > enzymopathy > mucopolysaccharidosis > Hurler syndrome

Preferred term

Hurler syndrome

Definition(s)

Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides) in lysosomes. (Wikipedia)

Broader concept(s)

mucopolysaccharidosis

In other languages

mucopolysaccharidose de Hurler

French
gargoylisme
maladie de Hurler
mucopolysaccharidose de type I

URI

http://data.loterre.fr/ark:/67375/VH8-NP9GR8TM-5

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