nephronophthisis (DOID:12712)
Alliance: disease page
Synonyms: medullary cystic disease; medullary cystic kidney
Alt IDs: ICD10CM:Q61.5, ICD9CM_2006:753.16, NCI:C123200, OMIM:PS256100, ORDO:655, UMLS_CUI:C0687120
Definition: An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).