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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

GARD:8233

ICD10CM:E75.22

MESH:D005776

NCI:C61268

ORDO:355

SNOMEDCT_US_2018_03_01:2859005

SNOMEDCT_US_2018_03_01:62201009

UMLS_CUI:C0017205

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

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