Gaucher's disease true GARD:8233 ORDO:355 SNOMEDCT_US_2018_03_01:62201009 https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/gauchers-disease NCI:C61268 DOID:1926 kerasin thesaurismosis Gaucher disease MESH:D005776 acid beta-glucosidase deficiency SNOMEDCT_US_2018_03_01:2859005 glucosylceramide beta-glucosidase deficiency Xref MGI. OMIM mapping confirmed by DO. [SN]. disease_ontology UMLS_CUI:C0017205 glocucerebrosidase 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. ICD10CM:E75.22 sphingolipidosis