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Echinobase
Summary Literature (0)
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: deficiency of alpha-mannosidase (disorder), Alpha-D-mannosidosis, alpha-mannosidase deficiency, deficiency of alpha-mannosidase

Echinobase Genes :


MIM:
MIM:248500 - mannosidosis, alpha b, lysosomal; mansa

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)