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arthrogryposis-renal dysfunction-cholestasis syndrome

Disease Summary
Associated Targets (2)
Tbio

2


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Mondo Description 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.
Disease Ontology Description 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. It 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.
Mondo Term and Equivalent IDs
MONDO:0017123:  arthrogryposis-renal dysfunction-cholestasis syndrome
GARD:0000794: 
MESH:C535382: 
OMIMPS:208085: 
Orphanet:2697: 
SCTID:720513002: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)