DOID:0050739

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • genetic disease
            • monogenic disease
              • autosomal genetic disease
                • autosomal dominant disease (6)
                • autosomal recessive disease (3)
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • autosomal genetic disease ^xsd:string
• created_by
  • lschriml ^xsd:string
• creation_date
  • 2012-07-24T04:45:53Z ^xsd:string
• definition
  • A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. ^xsd:string
    • dce:type
      • obo:ECO_0007637
    • oio:hasDbXref
      • url:http://ghr.nlm.nih.gov/glossary=autosomaldominant ^xsd:string
      • url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns ^xsd:string
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:0050739 ^xsd:string
• in_subset
  • obo:doid#DO_MGI_slim
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • monogenic disease