Terminology Service for NFDI4Health
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Familial Juvenile Nephronophthisis

Go to external page http://purl.obolibrary.org/obo/NCIT_C74998

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. [ ]

Term info

Label

Familial Juvenile Nephronophthisis

Synonyms
  • Familial Juvenile Nephronophthisis
  • Juvenile Nephronophthisis
Legacy Concept Name

Familiar_Juvenile_Nephronophthisis

Preferred Name

Familial Juvenile Nephronophthisis

Semantic Type

Disease or Syndrome

UMLS CUI

C1855681

code

C74998