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Disease Ontology Browser
Gaucher's disease (DOID:1926)
Synonyms: acid beta-glucosidase deficiency; Gaucher disease; glocucerebrosidase deficiency; glucosylceramide beta-glucosidase deficiency; kerasin thesaurismosis; lipoid histiocytosis (kerasin type)
Alt IDs: OMIM:230800, OMIM:230900, OMIM:231000, OMIM:608013, OMIM:610539, ICD10CM:E75.22, MESH:D005776, NCI:C61268, ORDO:355, UMLS_CUI:C0017205
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.

Disease References using Mouse Models (13)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory