In total, we found that 17/18 (94.4%) of homozygous NOD2 individuals and 33/46 (71.7%) compound heterozygous had a diagnosis of CD and that 9.9% of all CD cases in this cohort could be attributed to homozygous or compound heterozygous variants in NOD2. We next investigated age of disease onset using the first recorded date of an IBD diagnosis in the EHR. The gene discussed is NOD2; the disease is Cowden disease.