syndromic disease familial chylomicronemia syndrome https://github.com/monarch-initiative/mondo/issues/8259 Orphanet:444490 MEDGEN:1778100 GARD:0006414 UMLS:C5442313 MONDO:0018637 DOID:0111417 A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function.