Gaucher's disease 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. DOID:1926 Gaucher disease ICD10CM:E75.22 MESH:D005776 NCI:C61268 ORDO:355 SNOMEDCT_US_2016_03_01:180485001 SNOMEDCT_US_2016_03_01:190794006 SNOMEDCT_US_2016_03_01:2859005 SNOMEDCT_US_2016_03_01:62201009 UMLS_CUI:C0017205 Xref MGI. OMIM mapping confirmed by DO. [SN]. acid beta-glucosidase deficiency disease_ontology glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis lipoid histiocytosis (kerasin type) sphingolipidosis