Search Ontology:
Human Disease

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 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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