nephronophthisis
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015962
inherited renal tubular disease
is_a
medullary cystic kidney
exact
nephronophthisis
exact
nephronophthisis (disease)
exact
SPAC12B10.05