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arthrogryposis, renal dysfunction, and cholestasis 1

^ http://purl.obolibrary.org/obo/MONDO_0008822

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0111353 (MONDO:equivalentTo)
  • OMIM:208085 (MONDO:equivalentTo)
abbreviation
ARCS1 [ OMIM:208085 MONDO:Lexical ]

definition

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0111353, https://omim.org/entry/208085

has exact synonym

arthrogryposis, renal dysfunction, and cholestasis type 1, VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome, arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B, arthrogryposis, renal dysfunction, and cholestasis 1

has related synonym

Arc syndrome, ARCS1

id

MONDO:0008822