sphingolipidosis

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Echinobase

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 (disorder), Sphingolipidosis, NOS, sphingolipidoses,

Echinobase 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

: gm2a, npc2, smpd1, npc1

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)