Gaucher's disease

Term ID

DOID:1926

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. (2)

References

• GARD:8233
• ICD10CM:E75.22
• MESH:D005776
• NCI:C61268
• ORDO:355
• SNOMEDCT_US_2023_03_01:190794006
• UMLS_CUI:C0017205

Ontology

Human Disease   ( DOID:1926 )