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arthrogryposis-renal dysfunction-cholestasis syndrome

^ http://purl.obolibrary.org/obo/MONDO_0017123

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. [ Orphanet:2697 ]

Term info

database cross reference
  • MESH:C535382 (Orphanet:2697/e)
  • SCTID:720513002 (MONDO:equivalentTo)
  • GARD:0000794 (MONDO:equivalentTo)
  • Orphanet:2697 (MONDO:equivalentTo)
  • DOID:0050763 (MONDO:equivalentTo)
  • OMIMPS:208085 (MONDO:equivalentTo)
Subsets

ordo_malformation_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.

exactMatch

http://identifiers.org/snomedct/720513002, http://purl.obolibrary.org/obo/Orphanet_2697, https://omim.org/phenotypicSeries/PS208085, http://purl.obolibrary.org/obo/DOID_0050763, http://identifiers.org/mesh/C535382

has exact synonym

ARC syndrome, arthrogryposis-renal dysfunction-cholestasis, arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, arthrogryposis, renal dysfunction, and cholestasis

has related synonym

arthrogryposis multiplex congenita, renal dysfunction, and cholestasis, arthrogryposis renal dysfunction cholestasis syndrome, arthrogryposis - renal dysfunction - cholestasis

id

MONDO:0017123