DOID:12259

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • disease of anatomical entity
            • hematopoietic system disease
              • blood coagulation disease
                • hemophilia B
          • genetic disease
            • monogenic disease
              • X-linked monogenic disease
                • X-linked recessive disease
                  • hemophilia B
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • hemophilia B ^xsd:string
• comment
  • OMIM mapping confirmed by DO. [SN]. ^xsd:string
• definition
  • A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. ^xsd:string
    • dce:type
      • obo:ECO_0007640
    • oio:hasDbXref
      • url:http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm ^xsd:string
• has exact synonym
  • factor IX deficiency ^@en
  • Congenital factor IX disorder ^@en
  • Congenital factor IX deficiency ^@en
  • deficiency, functional factor IX ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:12259 ^xsd:string
• in_subset
  • obo:doid#DO_rare_slim
  • obo:doid#NCIthesaurus
• oio:hasDbXref
  • MESH:D002836 ^xsd:string
  • UMLS_CUI:C0008533 ^xsd:string
  • ICD10CM:D67 ^xsd:string
  • ICD9CM:286.1 ^xsd:string
  • GARD:8732 ^xsd:string
  • NCI:C26721 ^xsd:string
  • OMIM:306900 ^xsd:string
  • SNOMEDCT_US_2023_03_01:41788008 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • blood coagulation disease
  • X-linked recessive disease