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Keyword Nephronophthisis

UniProtKB (17) rdf/xml obo
DefinitionProtein 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.
Synonyms NPHP
CategoryDisease
GraphicalCiliopathyDiseaseNephronophthisis
Keywords navigation
BroaderCiliopathy