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nephronophthisis 14

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.
Uniprot Description An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis 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 ZNF423 gene on chromosome 16q12.1.
Mondo Term and Equivalent IDs
MONDO:0013916:  nephronophthisis 14
UMLS:C3539071: