Term Name: | Gaucher's disease |
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Synonyms: | acid beta-glucosidase deficiency, Gaucher disease, glocucerebrosidase deficiency, glucosylceramide beta-glucosidase deficiency, kerasin thesaurismosis, lipoid histiocytosis |
Definition: | 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. |
Ontology: | Human Disease [DOID:1926] ( DOID:1926 ) |