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Summary Literature (1)
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: lysosomal storage metabolism disorder, disorder of lysosomal enzyme (disorder), disorder of lysosomal enzyme, inborn lysosomal enzyme disorder

Xenbase Genes : asah1, sumf1, apoe, slc17a5, gusb, ppt1, abhd5, gnptg, cln8, lipa, man2b1, neu1, cln5, arsb, lamp2, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0002561 - lumen of central nervous system


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

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