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DOID:0050576 - Senior-Loken syndrome
Disease Ontology Definition:An autosomal recessive genetic disease 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,
Echinobase Genes
:
nphp4,
cep290,
nphp1,
sdccag8,
iqcb1
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)