Renal-hepatic-pancreatic dysplasia 2

Definition

Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.

Also known as NEK8 renal-hepatic-pancreatic dysplasia, renal-hepatic-pancreatic dysplasia 2, renal-hepatic-pancreatic dysplasia caused by mutation in NEK8, renal-hepatic-pancreatic dysplasia type 2 — per MONDO

Also identified as

• OMIM 615415 per MONDO
• UMLS C3809434 per MONDO