Disease: Congenital hypoplasia of bile duct ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266242
Disease: Congenital hypoplasia of bile duct
Congenital hypoplasia of bile duct 		0.010 AlteredExpression disease BEFREE ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity.Platelet dysfunction is common. 15052268 2004