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

Terme préférentiel

beta-Mannosidosis  

Type

  • mesh:Descriptor

Définition

  • An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.

Concept générique

Concepts associés

Synonyme(s)

  • beta-Mannosidase Deficiency
  • Lysosomal beta A Mannosidosis
  • Lysosomal beta-Mannosidase Deficiency
  • Mannosidosis, beta A, Lysosomal

Qualificatif(s) autorisé(s)

Traductions

  • bêta-Mannosidose

    français

  • Déficit en bêta-mannosidase lysosomale
  • Déficit en bêta-mannosidase lysosomiale
  • Mannosidose bêta A lysosomale
  • Mannosidose bêta A lysosomiale

URI

http://data.loterre.fr/ark:/67375/JVR-Z0BW4NXC-P

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RDF/XML TURTLE JSON-LD Date de création 09/07/2003, dernière modification le 02/11/2018