Term Name: | beta-mannosidosis |
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Synonyms: | Beta-D-mannosidosis, beta-mannosidase deficiency, lysosomal beta-mannosidase deficiency |
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. |
Ontology: | Human Disease [DOID:3633] ( DOID:3633 ) |