DOID:12712 - nephronophthisis
Disease Ontology Definition:A kidney 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).
Synonyms: medullary cystic disease, medullary cystic kidney
Xenbase Genes : mapkbp1, nphp1, nphp4.2, nphp3, znf423, wdr19, cep83, tmem67, nek8, dcdc2, adamts9, invs, xpnpep3, anks6, cep164,
|MONDO:0019005 - nephronophthisis|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee