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ZIRC
OBO ID: DOID:0050763
Term Name: ARC syndrome Search Ontology:
Synonyms:
  • Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
  • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
  • Arthrogryposis-renal dysfunction-cholestasis
Definition: A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (4)
References:
Ontology: Human Disease   (DOID:0050763)
OTHER ARC syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)