DOID:13372

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • disease of metabolism
            • inherited metabolic disorder
              • plasma protein metabolism disease
                • alpha 1-antitrypsin deficiency
          • genetic disease
            • inherited metabolic disorder
              • plasma protein metabolism disease
                • alpha 1-antitrypsin deficiency
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • alpha 1-antitrypsin deficiency ^xsd:string
• comment
  • OMIM mapping confirmed by DO. [SN]. ^xsd:string
• definition
  • A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. ^xsd:string
    • dce:type
      • obo:ECO_0007638
      • obo:ECO_0007640
    • oio:hasDbXref
      • url:http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency ^xsd:string
      • url:http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm ^xsd:string
      • url:https://alpha1.org/what-is-alpha1/ ^xsd:string
      • url:https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency ^xsd:string
• has exact match
  • MESH:D019896 ^xsd:string
• has exact synonym
  • AAT deficiency ^@en
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:13372 ^xsd:string
• in_subset
  • obo:doid#DO_FlyBase_slim
  • obo:doid#NCIthesaurus
  • obo:doid#DO_rare_slim
• oio:hasDbXref
  • SNOMEDCT_US_2023_03_01:30188007 ^xsd:string
  • UMLS_CUI:C0221757 ^xsd:string
  • GARD:5784 ^xsd:string
  • ICD9CM:273.4 ^xsd:string
  • MESH:D019896 ^xsd:string
  • ICD10CM:E88.01 ^xsd:string
  • OMIM:613490 ^xsd:string
  • NCI:C84397 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • plasma protein metabolism disease