You are using an outdated browser. Please upgrade your browser to improve your experience.
nephronophthisis 13
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
Uniprot Description An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.