| http://purl.uniprot.org/keywords/983 | http://www.w3.org/2000/01/rdf-schema#comment | "Protein which, if defective, causes nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Clinical features include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Some children present with extrarenal symptoms such as tapeto-retinal degeneration, mental retardation, cerebellar ataxia, bone anomalies or liver involvement."xsd:string |