arthrogryposis-renal dysfunction-cholestasis syndrome
Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
MONDO:0002254
syndromic disease
is_a
MONDO:0008823
arthrogryposis multiplex congenita 2, neurogenic type
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017755
inborn disorder of bilirubin metabolism
is_a
ARC syndrome
exact
arthrogryposis - renal dysfunction - cholestasis
related
arthrogryposis multiplex congenita, renal dysfunction, and cholestasis
related
arthrogryposis renal dysfunction cholestasis syndrome
related
arthrogryposis, renal dysfunction, and cholestasis
exact
SPBC1703.15c