Gaucher's disease GARD:8233 ORDO:355 Xref MGI. OMIM mapping confirmed by DO. [SN]. NCI:C61268 DOID:1926 UMLS_CUI:C0017205 disease_ontology MESH:D005776 SNOMEDCT_US_2020_03_01:190794006 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 acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis sphingolipidosis