DO_rare_slim DO_FlyBase_slim NCIthesaurus Gaucher's disease GARD:8233 ORDO:355 NCI:C61268 DOID:1926 UMLS_CUI:C0017205 disease_ontology SNOMEDCT_US_2025_09_01:190794006 MESH:D005776 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. Gaucher disease ICD10CM:E75.22 Xref MGI. OMIM mapping confirmed by DO. [SN]. acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis sphingolipidosis