Term Name: Gaucher's disease
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 )

Relationships
is a type of: sphingolipidosis
has subtype: atypical Gaucher's disease due to saposin c deficiency Gaucher's disease perinatal lethal Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III