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Metadata
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

MIM:616414

ORDO:444092

Subsets

DO_rare_slim

Synonyms

Autoimmune interstitial lung disease-arthritis syndrome [EXACT]

COPA syndrome [EXACT]

Parent Relationships

is_a autoimmune disease

is_a syndrome

is_a autosomal dominant disease

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