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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

OMIM:
OMIM:266900 - SENIOR-LOKEN SYNDROME 1; SLSN1
OMIM:606995 - SENIOR-LOKEN SYNDROME 3; SLSN3
OMIM:606996 - SENIOR-LOKEN SYNDROME 4; SLSN4
OMIM:609254 - SENIOR-LOKEN SYNDROME 5; SLSN5
OMIM:610189 - SENIOR-LOKEN SYNDROME 6; SLSN6
OMIM:613615 - SENIOR-LOKEN SYNDROME 7; SLSN7

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)