has material basis in germline mutation in NPHP1 syndromic disease ciliopathy nephronophthisis 1 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/juvenile_nephronophthisis https://www.malacards.org/card/nephronophthisis_1 MONDO:0009728 NPHP1 MESH:C537699 NPH1 familial juvenile nephronophthisis Orphanet:93592 MEDGEN:343406 UMLS:C1855681 NANDO:2200140 NCIT:C74998 SCTID:444830001 nephronophthisis type 1 nephronophthisis (disease) caused by mutation in NPHP1 nephronophthisis 1, juvenile GARD:0018645 OMIM:256100 NANDO:1201036 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. juvenile nephronophthisis DOID:0111112 nephronophthisis 1 NPHP1 nephronophthisis (disease) nephronophthisis