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arthrogryposis, renal dysfunction, and cholestasis 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.
Uniprot Description A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.
Mondo Term and Equivalent IDs
MONDO:0013255:  arthrogryposis, renal dysfunction, and cholestasis 2
DOID:0111354: 
UMLS:C3150672: