Gaucher's disease GARD:8233 ORDO:355 SNOMEDCT_US_2018_03_01:62201009 glucosylceramide beta-glucosidase deficiency Xref MGI. OMIM mapping confirmed by DO. [SN]. NCI:C61268 DOID:1926 UMLS_CUI:C0017205 disease_ontology kerasin thesaurismosis Gaucher disease glocucerebrosidase deficiency MESH:D005776 acid beta-glucosidase deficiency 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. SNOMEDCT_US_2018_03_01:2859005 ICD10CM:E75.22 sphingolipidosis