disease has basis in dysfunction of NPHP1 syndromic disease nephronophthisis 1 DOID:0111112 ICD10:Q61.5 MESH:C537699 MONDO:0009728 NCIT:C74998 NPH1 NPHP1 NPHP1 nephronophthisis (disease) Nph1 OMIM:256100 Orphanet:93592 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. SCTID:444830001 UMLS:C1855681 UMLS:CN205459 familial juvenile nephronophthisis juvenile nephronophthisis juvenile nephronophthisis 1 nephronophthisis (disease) caused by mutation in NPHP1 nephronophthisis 1 nephronophthisis type 1 nephronophthisis, familial juvenile nephronophthisis (disease) nephropathy-associated ciliopathy