Mondo Description Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.
Uniprot Description A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.
Disease Ontology Description An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1.
Mondo Term and Equivalent IDs
MONDO:0009960: inflammatory bowel disease 1