beta-mannosidosis (DOID:3633)
Alliance: disease page
Synonyms: Beta-D-mannosidosis; beta-mannosidase deficiency; lysosomal beta-mannosidase deficiency
Alt IDs: OMIM:248510, MESH:D044905, NCI:C84596, UMLS_CUI:C4048196
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.