You are using an outdated browser. Please upgrade your browser to improve your experience.

Senior-Loken syndrome 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.
Uniprot Description A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
Mondo Term and Equivalent IDs
MONDO:0011756:  Senior-Loken syndrome 4
MESH:C537581: 
UMLS:C1846979: