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..expandarthrogryposis-renal dysfunction-cholestasis syndrome ()

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........expandarthrogryposis, renal dysfunction, and cholestasis 2 ()



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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17123
Name:arthrogryposis-renal dysfunction-cholestasis syndrome
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.
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Synonyms:ARC syndrome; arthrogryposis - renal dysfunction - cholestasis; arthrogryposis multiplex congenita, renal dysfunction, and cholestasis; arthrogryposis renal dysfunction cholestasis syndrome; arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome; arthrogryposis, renal dysfunction, and chol
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Reference: MedGen:
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