Nephronophthisis 18

Definition

Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.

Also known as CEP83 nephronophthisis (disease), nephronophthisis (disease) caused by mutation in CEP83, nephronophthisis 18, nephronophthisis type 18, NPHP18 — per MONDO

Also identified as

• DOID 0111125 per MONDO
• OMIM 615862 per MONDO
• UMLS C3890591 per MONDO