FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term beta-mannosidosis ID (Ontology) DOID:3633 (Human Disease)
Definition A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
Also Known As "Beta-D-mannosidosis" ; "beta-mannosidase deficiency" ; "lysosomal beta-mannosidase deficiency"
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 Genes
 beta-mannosidosis       1
 for disease ribbon | beta-mannosidosis       1
 model of | beta-mannosidosis       1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__lysosomal storage disease
       |__beta-mannosidosis  1 rec.
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Is a lysosomal storage disease
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Synonyms
  • "Beta-D-mannosidosis" EXACT
    "beta-mannosidase deficiency" EXACT
    "lysosomal beta-mannosidase deficiency" EXACT
Secondary IDs
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MESH:D044905
MIM:248510
NCI:C84596
SNOMEDCT_US_2023_03_01:238047006
UMLS_CUI:C4048196