DISEASES

Disease-gene associations mined from literature

Human genes for Gaucher's disease

Gaucher's disease [DOID:1926]

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.

Synonyms:  Gaucher's disease,  DOID:1926,  Gauchers disease,  Gaucher's disorder,  Gaucher's syndrome ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6