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.