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Disease Ontology Browser
Gaucher's disease (DOID:1926)
Alliance: disease page
Synonyms: acid beta-glucosidase deficiency; Gaucher disease; glocucerebrosidase deficiency; glucosylceramide beta-glucosidase deficiency; kerasin thesaurismosis
Alt IDs: 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 (29)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory