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Summary Literature (0)
DOID:3211 - lysosomal storage disease

Disease Ontology Definition:An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

Synonyms: disorder of lysosomal enzyme (disorder), inborn lysosomal enzyme disorder, lysosomal storage metabolism disorder,

Echinobase Genes : hgsnat, asah1, aga, gm2a, asah1, ppt1, sgsh, gne, manba, gnptab, ctsd, slc17a5, neu1, npc2, cln3, [+]

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): inherited metabolic disorder (is_a)