/arthrogryposis, renal dysfunction, and cholestasis 2
arthrogryposis, renal dysfunction, and cholestasis 2
Rare Disease
MONDO:0013255
Also Known As
VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndromearthrogryposis, renal dysfunction, and cholestasis 2arthrogryposis, renal dysfunction, and cholestasis type 2arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39ARCS2
Definition
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.
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