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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: acid beta-glucosidase deficiency, Gaucher disease, glocucerebrosidase deficiency, glucosylceramide beta-glucosidase deficiency, kerasin thesaurismosis, lipoid histiocytosis (kerasin type)
Xenbase Genes
:
psap,
gba1
| MONDO:0018150 - skin of lower lip |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
sphingolipidosis (is_a)