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arthrogryposis-renal dysfunction-cholestasis syndrome

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:2697 (MONDO:equivalentTo)
  • DOID:0050763 (MONDO:equivalentTo)
  • SCTID:720513002 (MONDO:equivalentTo)
  • OMIMPS:208085 (MONDO:equivalentTo)
  • GARD:794 (Orphanet:2697)
  • MESH:C535382 (Orphanet:2697/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6749

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0003-4830-7530)

exactMatch

http://identifiers.org/snomedct/720513002

https://omim.org/phenotypicSeries/PS208085

http://purl.obolibrary.org/obo/DOID_0050763

http://www.orpha.net/ORDO/Orphanet_2697

http://identifiers.org/mesh/C535382

has related synonym

arthrogryposis multiplex congenita, renal dysfunction, and cholestasis

arthrogryposis renal dysfunction cholestasis syndrome

arthrogryposis - renal dysfunction - cholestasis

id

MONDO:0017123