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DOID:3413 - alpha-mannosidosis
Disease Ontology 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.
Synonyms: Alpha-D-mannosidosis, alpha-mannosidase deficiency, deficiency of alpha-mannosidase, deficiency of alpha-mannosidase (disorder)
Xenbase Genes : man2b1
MONDO:0009561 - alpha-mannosidosis |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
lysosomal storage disease (is_a)