DOID:1926

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • disease of metabolism
            • inherited metabolic disorder
              • lysosomal storage disease
                • lipid storage disease
                  • sphingolipidosis
                    • Gaucher's disease
          • genetic disease
            • inherited metabolic disorder
              • lysosomal storage disease
                • lipid storage disease
                  • sphingolipidosis
                    • Gaucher's disease
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • Gaucher's disease ^xsd:string
• comment
  • Xref MGI.\nOMIM mapping confirmed by DO. [SN]. ^xsd:string
• 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. ^xsd:string
    • dce:type
      • obo:ECO_0007636
      • obo:ECO_0007638
    • oio:hasDbXref
      • url:http://en.wikipedia.org/wiki/Gaucher%27s_disease ^xsd:string
      • url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract ^xsd:string
• has exact synonym
  • kerasin thesaurismosis ^@en
  • acid beta-glucosidase deficiency ^@en
  • glocucerebrosidase deficiency ^@en
  • Gaucher disease ^@en
  • glucosylceramide beta-glucosidase deficiency ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:1926 ^xsd:string
• in_subset
  • obo:doid#NCIthesaurus
  • obo:doid#DO_rare_slim
  • obo:doid#DO_FlyBase_slim
• oio:hasDbXref
  • UMLS_CUI:C0017205 ^xsd:string
  • MESH:D005776 ^xsd:string
  • NCI:C61268 ^xsd:string
  • SNOMEDCT_US_2023_03_01:190794006 ^xsd:string
  • GARD:8233 ^xsd:string
  • ORDO:355 ^xsd:string
  • ICD10CM:E75.22 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • sphingolipidosis