DOID:0050737

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • genetic disease
            • monogenic disease
              • autosomal genetic disease
                • autosomal recessive disease
                  • common variable immunodeficiency
                  • cystic fibrosis
                  • familial hepatic adenoma
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • autosomal recessive 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 two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. ^xsd:string
    • dce:type
      • obo:ECO_0007637
      • obo:ECO_0007640
    • oio:hasDbXref
      • url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns ^xsd:string
      • url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm ^xsd:string
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:0050737 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • autosomal genetic disease