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Concept information

... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis VII
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis VII
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Mucinoses > Mucopolysaccharidoses > Mucopolysaccharidosis VII
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis VII
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis VII

Terme préférentiel

Mucopolysaccharidosis VII  

Type

  • mesh:Descriptor

Définition

  • Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

Concept générique

Synonyme(s)

  • beta-Glucuronidase Deficiency
  • GUSB Deficiency
  • Mucopolysaccharidosis 7
  • Mucopolysaccharidosis Type VII
  • Sly Disease
  • Sly Syndrome

Qualificatif(s) autorisé(s)

Traductions

  • Mucopolysaccharidose de type VII

    français

  • Déficit en bêta-glucuronidase
  • Maladie de Sly
  • MPS VII
  • Mucopolysaccharidose de Sly
  • Mucopolysaccharidose de type 7
  • Syndrome de Sly

URI

http://data.loterre.fr/ark:/67375/JVR-LNR4H3VB-L

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RDF/XML TURTLE JSON-LD Date de création 21/06/1991, dernière modification le 08/07/2013