Renal-hepatic-pancreatic dysplasia 1

Definition

Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.

Also known as NPHP3 renal-hepatic-pancreatic dysplasia, renal-hepatic-pancreatic dysplasia 1, renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3, renal-hepatic-pancreatic dysplasia type 1 — per MONDO

Also identified as

• OMIM 208540 per MONDO
• UMLS C3715199 per MONDO