Arthrogryposis, renal dysfunction, and cholestasis 2

Definition

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.

Also known as arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39, arthrogryposis, renal dysfunction, and cholestasis 2, arthrogryposis, renal dysfunction, and cholestasis type 2, VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome — per MONDO

Also identified as

• DOID 0111354 per MONDO
• OMIM 613404 per MONDO
• UMLS C3150672 per MONDO