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Metadata
ID DOID:3413
Name alpha-mannosidosis
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.
http://en.wikipedia.org/wiki/Alpha-mannosidosis
Xrefs

GARD:6968

MESH:D008363

NCI:C84548

OMIM:248500

SNOMEDCT_US_2023_03_01:65524005

UMLS_CUI:C0024748

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Alpha-D-mannosidosis [EXACT]

alpha-mannosidase deficiency [EXACT]

deficiency of alpha-mannosidase [EXACT]

Parent Relationships

is_a lysosomal storage disease

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