syndromic disease hereditary disease biliary tract disorder Caroli syndrome https://github.com/monarch-initiative/mondo/issues/6651 https://github.com/monarch-initiative/mondo/issues/6743 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/7941 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) NANDO:2200934 DOID:0081394 Orphanet:480520 MEDGEN:1814547 MONDO:0018808 GARD:0021976 UMLS:C5700203 A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present with recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.