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Metadata
ID DOID:3633
Name beta-mannosidosis
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.
http://en.wikipedia.org/wiki/Beta-mannosidosis
Xrefs

MESH:D044905

NCI:C84596

OMIM:248510

SNOMEDCT_US_2020_09_01:238047006

UMLS_CUI:C4048196

Subsets

NCIthesaurus

Synonyms

Beta-D-mannosidosis [EXACT]

beta-mannosidase deficiency [EXACT]

lysosomal beta-mannosidase deficiency [EXACT]

Parent Relationships

is_a lysosomal storage disease

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