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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: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
inherited metabolic disorder (is_a)