Nephronophthisis 13

Definition

A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.

Also known as nephronophthisis 13, nephronophthisis type 13, NPHP13 — per MONDO

Also identified as

• DOID 0111121 per MONDO
• OMIM 614377 per MONDO
• UMLS C3280612 per MONDO