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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

Terme préférentiel

Hurler syndrome

Définition(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)

Concept(s) générique(s)

mucopolysaccharidosis

Traductions

mucopolysaccharidose de Hurler

français
gargoylisme
maladie de Hurler
mucopolysaccharidose de type I

URI

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

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020