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DO Term : Gaucher's disease [DOID:1926] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • acid beta-glucosidase deficiency,
  • ICD10CM:E75.22,
  • MESH:D005776,
  • GARD:8233,
  • NCI:C61268,
  • glucosylceramide beta-glucosidase deficiency,
  • SNOMEDCT_US_2023_03_01:190794006,
  • kerasin thesaurismosis,
  • UMLS_CUI:C0017205,
  • Gaucher disease,
  • glocucerebrosidase deficiency,
  • ORDO:355
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Ontology Term --> Direct children

Ontology Term --> Direct parents