Category:Senior-Loken syndrome

A monogenic disease that is inherited as an autosomal recessive genetic trait. This disorder is characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. OMIM mapping confirmed by DO. [SN]. equivalent URI:=http://purl.obolibrary.org/obo/DOID_0050576