DOID:1927

• 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
                    • Fabry disease
                    • Gaucher's disease
          • genetic disease
            • inherited metabolic disorder
              • lysosomal storage disease
                • lipid storage disease
                  • sphingolipidosis
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • sphingolipidosis ^xsd:string
• definition
  • A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. ^xsd:string
    • dce:type
      • obo:ECO_0007638
      • obo:ECO_0007645
    • oio:hasDbXref
      • url:https://en.wikipedia.org/wiki/Sphingolipidoses ^xsd:string
      • url:https://www.ncbi.nlm.nih.gov/pubmed/28857617 ^xsd:string
• has exact synonym
  • sphingolipidoses ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:1927 ^xsd:string
• in_subset
  • obo:doid#DO_rare_slim
  • obo:doid#NCIthesaurus
• oio:hasDbXref
  • ICD10CM:E75.3 ^xsd:string
  • MESH:D013106 ^xsd:string
  • SNOMEDCT_US_2023_03_01:58459009 ^xsd:string
  • NCI:C117254 ^xsd:string
  • GARD:7672 ^xsd:string
  • UMLS_CUI:C0037899 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • lipid storage disease