Arthrogryposis, renal dysfunction, and cholestasis 1

Definition

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.

Also known as arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B, arthrogryposis, renal dysfunction, and cholestasis 1, arthrogryposis, renal dysfunction, and cholestasis type 1, VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome — per MONDO

Also identified as

• DOID 0111353 per MONDO
• OMIM 208085 per MONDO
• UMLS C1859722 per MONDO