DISEASES

Disease-gene associations mined from literature

Human genes for nephronophthisis

Nephronophthisis [DOID:12712]

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).

Synonyms:  nephronophthisis,  DOID:12712,  medullary cystic disease,  medullary cystic kidney,  medullary cystic disorder ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8 #9 #10 #11 #12 #13 #14 #15