Term Name:	ARC syndrome
Synonyms:	Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, Arthrogryposis-renal dysfunction-cholestasis
Definition:	A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
Ontology:	Human Disease [DOID:0050763]   ( DOID:0050763 )