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Senior-Loken syndrome

Disease Summary
Associated Targets (10)
Tbio

10


GARD Rare
Mondo Description Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0017842:  Senior-Loken syndrome
GARD:0000322: 
MESH:C537580: 
OMIMPS:266900: 
Orphanet:3156: 
UMLS:CN117960: