Search Ontology:
Human Disease
Gaucher's disease
- Term ID
- DOID:1926
- Synonyms
-
- acid beta-glucosidase deficiency
- Gaucher disease
- glocucerebrosidase deficiency
- 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. (2)
- References
-
- GARD:8233
- ICD10CM:E75.22
- MESH:D005776
- Ontology
- Human Disease ( DOID:1926 )
- has subtype
- is a type of
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Genes Involved
Zebrafish Models