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polycystic liver disease 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.
Uniprot Description An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.
Mondo Term and Equivalent IDs
MONDO:0014860:  polycystic liver disease 2
UMLS:C4310769: