DOID:630

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • genetic disease
            • chromosomal disease (2)
            • inherited metabolic disorder (6)
            • monogenic disease (2)
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • genetic disease ^xsd:string
• definition
  • A disease that has_material_basis_in genetic variations in the human genome. ^xsd:string
    • dce:type
      • obo:ECO_0007637
    • oio:hasDbXref
      • url:http://ghr.nlm.nih.gov/ ^xsd:string
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:630 ^xsd:string
• in_subset
  • obo:doid#DO_CFDE_slim
  • obo:doid#NCIthesaurus
  • obo:doid#DO_RAD_slim
• oio:hasDbXref
  • SNOMEDCT_US_2023_03_01:32895009 ^xsd:string
  • UMLS_CUI:C0019247 ^xsd:string
  • NCI:C3101 ^xsd:string
  • MESH:D030342 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • additional diseases by category