|
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)