FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term alpha-mannosidosis ID (Ontology) DOID:3413 (Human Disease)
Definition A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
Also Known As "Alpha-D-mannosidosis" ; "alpha-mannosidase deficiency" ; "deficiency of alpha-mannosidase"
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 Genes
 alpha-mannosidosis       6
 for disease ribbon | alpha-mannosidosis       6
 model of | alpha-mannosidosis       6
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__lysosomal storage disease
       |__alpha-mannosidosis  6 rec.
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Is a lysosomal storage disease
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Synonyms
  • "Alpha-D-mannosidosis" EXACT
    "alpha-mannosidase deficiency" EXACT
    "deficiency of alpha-mannosidase" EXACT
Secondary IDs
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GARD:6968
MESH:D008363
MIM:248500
NCI:C84548
SNOMEDCT_US_2023_03_01:65524005
UMLS_CUI:C0024748