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Concept information

... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mannosidase Deficiency Diseases > alpha-Mannosidosis
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mannosidase Deficiency Diseases > alpha-Mannosidosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mannosidase Deficiency Diseases > alpha-Mannosidosis
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mannosidase Deficiency Diseases > alpha-Mannosidosis

Terme préférentiel

alpha-Mannosidosis  

Type

  • mesh:Descriptor

Définition

  • An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.

Concept générique

Concepts associés

Synonyme(s)

  • Alpha-D-Mannosidosis
  • alpha Mannosidase B Deficiency
  • Alpha-Mannosidase B Deficiency
  • alpha-Mannosidase Deficiency
  • Alpha-Mannosidosis, Type I
  • Lysosomal Alpha B Mannosidosis
  • Lysosomal alpha-D-Mannosidase Deficiency
  • Mannosidosis, alpha B Lysosomal
  • Mannosidosis, alpha B, Lysosomal

Qualificatif(s) autorisé(s)

Traductions

  • alpha-Mannosidose

    français

  • Déficit en alpha-D-mannosidase lysosomale
  • Déficit en alpha-D-mannosidase lysosomiale
  • Déficit en alpha-Mannosidase
  • Mannosidose alpha B lysosomale
  • Mannosidose alpha B lysosomiale

URI

http://data.loterre.fr/ark:/67375/JVR-K85SRC1R-6

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RDF/XML TURTLE JSON-LD Date de création 29/05/1984, dernière modification le 08/07/2013