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Summary Literature (7)
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 Disease Ontology (on Monarch Initiative):
MONDO:0019005 - nephronophthisis


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), kidney disease (is_a)