Metadata | |
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ID | DOID:0081242 |
Name | autoimmune interstitial lung, joint, and kidney disease |
Definition | A syndrome 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. https://pubmed.ncbi.nlm.nih.gov/25894502/, https://rarediseases.org/rare-diseases/copa-syndrome/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Autoimmune interstitial lung disease-arthritis syndrome [EXACT] COPA syndrome [EXACT] |
Parent Relationships |
is_a autoimmune disease is_a syndrome |