arthrogryposis, renal dysfunction, and cholestasis 1
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
MONDO:0017123
arthrogryposis-renal dysfunction-cholestasis syndrome
is_a
ARCS1
related
VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome
exact
arthrogryposis, renal dysfunction, and cholestasis 1
exact
arthrogryposis, renal dysfunction, and cholestasis type 1
exact
arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B
exact
SPBC1703.15c