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... > 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 > Carbohydrate Metabolism, Inborn Errors > Mannosidase Deficiency Diseases > beta-Mannosidosis
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > 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

Preferred term

beta-Mannosidosis  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

Scope note

  • 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.

History note

  • 2004

In other languages

URI

http://www.yso.fi/onto/mesh/D044905

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