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Summary Literature (0)
DOID:1926 - Gaucher's disease

Disease Ontology Definition:A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.

Synonyms: lipoid histiocytosis (kerasin type), glucosylceramide beta-glucosidase deficiency, Gaucher disease, acid beta-glucosidase deficiency, glocucerebrosidase deficiency, kerasin thesaurismosis

Xenbase Genes : psap, gba1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018150 - skin of lower lip


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): sphingolipidosis (is_a)