. "lschriml"^^ . "ARC syndrome"^^ . . . _:vb50937547 . _:vb50937547 . "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome"@en . . _:vb50937547 . _:vb50937547 . "DOID:0050763"^^ . "disease_ontology"^^ . "Arthrogryposis-renal dysfunction-cholestasis"@en . _:vb50937547 . . "ORDO:2697"^^ . "2013-01-17T12:46:38Z"^^ . "OMIM:PS208085"^^ . "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."^^ . "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS"@en .