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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:
  • Gaucher disease,
  • ORDO:355,
  • MESH:D005776,
  • ICD10CM:E75.22,
  • UMLS_CUI:C0017205,
  • GARD:8233,
  • SNOMEDCT_US_2023_03_01:190794006,
  • kerasin thesaurismosis,
  • NCI:C61268,
  • glucosylceramide beta-glucosidase deficiency,
  • glocucerebrosidase deficiency,
  • acid beta-glucosidase deficiency
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Disease

Diseases --> Human genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents