| Metadata | |
|---|---|
| ID | DOID:0081242 |
| Name | autoimmune interstitial lung, joint, and kidney 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. https://rarediseases.org/rare-diseases/copa-syndrome/, https://pubmed.ncbi.nlm.nih.gov/25894502/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Autoimmune interstitial lung disease-arthritis syndrome [EXACT] autoinflammation and autoimmunity, Systemic with immune dysregulation [EXACT] COPA syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a autoimmune disease is_a syndrome |
| Subclass Logical Relationships |
disease has feature some interstitial lung disease has phenotype some Abnormal circulating immunoglobulin concentration has material basis in some autosomal dominant inheritance |