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. [ http://purl.obolibrary.org/obo/ECO_0007636 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract url:http://en.wikipedia.org/wiki/Gaucher%27s_disease http://purl.obolibrary.org/obo/ECO_0007638 ]
Synonyms: glocucerebrosidase deficiency Gaucher disease glucosylceramide beta-glucosidase deficiency acid beta-glucosidase deficiency kerasin thesaurismosis
Term information
- ORDO:355
- ICD10CM:E75.22
- MESH:D005776
- NCI:C61268
- SNOMEDCT_US_2023_03_01:190794006
- GARD:8233
- UMLS_CUI:C0017205
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus