Nephronophthisis 11

Definition

A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.

Also known as nephronophthisis 11, nephronophthisis type 11, NPHP11 — per MONDO

Also identified as

• DOID 0111118 per MONDO
• OMIM 613550 per MONDO
• UMLS C3150796 per MONDO