FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term autoimmune interstitial lung, joint, and kidney disease ID (Ontology) DOID:0081242 (Human Disease)
Definition An autoimmune disease that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.
Also Known As "Autoimmune interstitial lung disease-arthritis syndrome" ; "autoinflammation and autoimmunity, Systemic with immune dysregulation" ; "COPA syndrome"
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 autoimmune interstitial lung, joint, and kidney disease       1
 for disease ribbon | autoimmune interstitial lung, joint, and kidney disease       1
 model of | autoimmune interstitial lung, joint, and kidney disease       1
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autosomal genetic disease
 |__autosomal dominant disease________
immune system disease                 |
 |__autoimmune disease________________|
 |__primary immunodeficiency disease__|
disease                               |
 |__syndrome__________________________|
                                      autoimmune interstitial lung, joint, and kidney disease  1 rec.
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Is a autosomal dominant disease
syndrome
autoimmune disease
primary immunodeficiency disease
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Synonyms
  • "Autoimmune interstitial lung disease-arthritis syndrome" EXACT
    "autoinflammation and autoimmunity, Systemic with immune dysregulation" EXACT
    "COPA syndrome" EXACT
Secondary IDs
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MIM:616414
ORDO:444092