DOID:0050736

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • genetic disease
            • monogenic disease
              • autosomal genetic disease
                • autosomal dominant disease
                  • DiGeorge syndrome
                  • glomangioma (2)
                  • hereditary angioedema
                  • paraganglioma
                  • schwannomatosis
                  • transthyretin amyloidosis
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • autosomal dominant disease ^xsd:string
• created_by
  • lschriml ^xsd:string
• creation_date
  • 2012-07-24T12:51:47Z ^xsd:string
• definition
  • An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. ^xsd:string
    • dce:type
      • obo:ECO_0007637
      • obo:ECO_0007640
    • oio:hasDbXref
      • url:http://ghr.nlm.nih.gov/glossary=autosomaldominant ^xsd:string
      • url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns ^xsd:string
      • url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm ^xsd:string
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:0050736 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • autosomal genetic disease