DOID:14499

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

• label
  • Fabry disease ^xsd:string
• comment
  • OMIM mapping confirmed by DO. [SN]. ^xsd:string
• definition
  • A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. ^xsd:string
    • dce:type
      • obo:ECO_0007637
    • oio:hasDbXref
      • url:https://ghr.nlm.nih.gov/condition/fabry-disease ^xsd:string
• has exact synonym
  • Fabry Disease, Cardiac Variant ^xsd:string
  • Fabry's disease ^@en
  • Alpha-galactosidase A deficiency ^@en
  • deficiency of melibiase ^@en
  • Angiokeratoma Corporis Diffusum ^@en
  • alpha galactosidase deficiency ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:14499 ^xsd:string
• in_subset
  • obo:doid#NCIthesaurus
  • obo:doid#DO_rare_slim
• oio:hasDbXref
  • ICD10CM:E75.21 ^xsd:string
  • SNOMEDCT_US_2023_03_01:16652001 ^xsd:string
  • UMLS_CUI:C0002986 ^xsd:string
  • OMIM:301500 ^xsd:string
  • MESH:D000795 ^xsd:string
  • GARD:6400 ^xsd:string
  • NCI:C84701 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • sphingolipidosis