autoimmune interstitial lung, joint, and kidney disease

Summary

DOID:0081242 - autoimmune interstitial lung, joint, and kidney disease

Disease Ontology 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.

Synonyms: Autoimmune interstitial lung disease-arthritis syndrome, COPA syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: copa

MIM:

MIM:616414 - AUTOINFLAMMATION AND AUTOIMMUNITY, SYSTEMIC, WITH IMMUNE DYSREGULATION; AIAISD

MIM:616414 - AUTOINFLAMMATION AND AUTOIMMUNITY, SYSTEMIC, WITH IMMUNE DYSREGULATION; AIAISD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autoimmune disease (is_a), autosomal dominant disease (is_a), syndrome (is_a)