| description | 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 |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
