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Summary Literature (0)
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, Sphingolipidosis (disorder), Sphingolipidosis, NOS, sphingolipidoses

Xenbase Genes : sumf1, apoe, npc1, smpd1, gm2a, galc, glb1, hexb, psap, gla, arsa.2, arsa.1, npc2, gba1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019255 - sphingolipidosis


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lipid storage disease (is_a)