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nephronophthisis 7
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.
Uniprot Description An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. 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.