nephronophthisis 1
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
MONDO:0002254
syndromic disease
is_a
MONDO:0005308
ciliopathy
is_a
MONDO:0019005
nephronophthisis
is_a
NPH1
exact
NPHP1
exact
NPHP1 nephronophthisis (disease)
exact
familial juvenile nephronophthisis
exact
juvenile nephronophthisis
exact
nephronophthisis (disease) caused by mutation in NPHP1
exact
nephronophthisis 1
exact
nephronophthisis 1, juvenile
exact
nephronophthisis type 1
exact