Nephronophthisis-like nephropathy 1

Definition

Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.

Also known as nephronophthisis (disease) caused by mutation in XPNPEP3, nephronophthisis-like nephropathy 1, nephronophthisis-like nephropathy type 1, NPHP-XPNPEP3, NPHPL1, XPNPEP3 nephronophthisis (disease) — per MONDO

Also identified as

• DOID 0111117 per MONDO
• OMIM 613159 per MONDO
• UMLS C3150419 per MONDO