DOID:893

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • disease of metabolism
            • inherited metabolic disorder
              • metal metabolism disorder
                • Wilson disease
          • genetic disease
            • inherited metabolic disorder
              • metal metabolism disorder
                • Wilson disease
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • Wilson disease ^xsd:string
• comment
  • OMIM mapping confirmed by DO. [SN]. ^xsd:string
• definition
  • A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. ^xsd:string
    • oio:hasDbXref
      • url:https://pubmed.ncbi.nlm.nih.gov/32279718/ ^xsd:string
      • url:https://www.genome.gov/Genetic-Disorders/Wilson-Disease ^xsd:string
• has exact synonym
  • Wilson's disease ^@en
  • Cerebral pseudosclerosis ^@en
  • Westphal-Strumpell syndrome ^@en
  • Westphal pseudosclerosis ^@en
  • hepatolenticular degeneration ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:893 ^xsd:string
• in_subset
  • obo:doid#DO_rare_slim
  • obo:doid#NCIthesaurus
• oio:hasDbXref
  • NCI:C84756 ^xsd:string
  • ICD10CM:E83.01 ^xsd:string
  • SNOMEDCT_US_2023_03_01:88518009 ^xsd:string
  • OMIM:277900 ^xsd:string
  • GARD:7893 ^xsd:string
  • UMLS_CUI:C0019202 ^xsd:string
  • MESH:D006527 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • metal metabolism disorder