DOID:612

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • disease of anatomical entity
            • immune system disease
              • primary immunodeficiency disease
                • B cell deficiency (1)
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • primary immunodeficiency disease ^xsd:string
• comment
  • Xref MGI. ^xsd:string
• definition
  • An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. ^xsd:string
    • dce:type
      • obo:ECO_0007637
    • oio:hasDbXref
      • url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases ^xsd:string
• has exact synonym
  • immunodeficiency syndrome ^@en
  • immune deficiency disorder ^@en
  • hypoimmunity ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:612 ^xsd:string
• in_subset
  • obo:doid#NCIthesaurus
  • obo:doid#DO_FlyBase_slim
• oio:hasDbXref
  • KEGG:05340 ^xsd:string
  • SNOMEDCT_US_2023_03_01:191005003 ^xsd:string
  • ICD9CM:279.3 ^xsd:string
  • NCI:C39725 ^xsd:string
  • OMIM:242850 ^xsd:string
  • ICD10CM:D84.9 ^xsd:string
  • OMIM:PS300755 ^xsd:string
  • MESH:D007153 ^xsd:string
  • UMLS_CUI:C0021051 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • immune system disease