| Metadata | |
|---|---|
| ID | DOID:1926 |
| Name | Gaucher's disease |
| 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. http://en.wikipedia.org/wiki/Gaucher%27s_disease, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:190794006 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
acid beta-glucosidase deficiency [EXACT] Gaucher disease [EXACT] glocucerebrosidase deficiency [EXACT] glucosylceramide beta-glucosidase deficiency [EXACT] kerasin thesaurismosis [EXACT] |
| Parent Relationships |
is_a sphingolipidosis |