Nephronophthisis 20

Definition

Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.

Also known as MAPKBP1 nephronophthisis (disease), nephronophthisis (disease) caused by mutation in MAPKBP1, nephronophthisis 20, nephronophthisis type 20, NPHP20 — per MONDO

Also identified as

• DOID 0111127 per MONDO
• OMIM 617271 per MONDO
• UMLS C4310640 per MONDO