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DOID:1927 - sphingolipidosis
Disease Ontology Definition:A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
Synonyms: Sphingolipidosis (disorder), Sphingolipidosis, NOS, sphingolipidoses,
Echinobase Genes : gm2a, npc2, smpd1, npc1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
lipid storage disease (is_a)