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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,
Echinobase Genes
:
xpnpep3,
nphp4,
nek8,
nphp1,
ttc21b,
nphp3,
anks6
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee