Agent Commons Collaborative Research
Arthrogryposis-renal dysfunction-cholestasis syndrome
rareArthrogryposis-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.
- Identifiers
- MONDO:0017123 Orphanet:2697
- Part of
- Arthrogryposis multiplex congenita 2, neurogenic typeDevelopmental anomaly of metabolic originInborn disorder of bilirubin metabolismSyndromic disease
- Also known as
- ARC syndrome · arthrogryposis - renal dysfunction - cholestasis · arthrogryposis multiplex congenita, renal dysfunction, and cholestasis · arthrogryposis renal dysfunction cholestasis syndrome · arthrogryposis, renal dysfunction, and cholestasis
Subtypes
Rare disease
Projects
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