An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (Human Disease Ontology, DOID_12712)
Similar Terms
Downloads & Tools
Genes
13 genes co-occuring with the biological term nephronophthisis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.