Disease association ontology term - MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome
Term summary
- ID
- MONDO:0017123
- Name
- arthrogryposis-renal dysfunction-cholestasis syndrome
- Ontology or CV name
- Disease association
- Definition
- 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.
