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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,
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