lysosomal storage disease

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0002561 - lysosomal storage disease

MONDO:0002561 - lysosomal storage disease

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)