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Summary Literature (1)
DOID:0050576 - Senior-Loken syndrome

Disease Ontology Definition:A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.

Synonyms: Loken Senior syndrome, renal-retinal syndrome,

Xenbase Genes : nphp1, nphp4.2, nphp3, wdr19, sdccag8, iqcb1, invs, cep290, traf3ip1, cep164

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0017842 - Senior-Loken syndrome

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), syndrome (is_a)