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polycystic kidney disease 2

Disease Summary
Associated Targets (7)
Tchem

4

Tbio

2

Tclin

1


Mondo Description Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.
Uniprot Description An autosomal dominant disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy.
Mondo Term and Equivalent IDs
MONDO:0013131:  polycystic kidney disease 2
NCIT:C123166: 
SCTID:253879006: 
UMLS:C2751306: