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nephronophthisis 9

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.
Uniprot Description An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Disease Ontology Description A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.
Mondo Term and Equivalent IDs
MONDO:0013444:  nephronophthisis 9
UMLS:C3151188: