Search Ontology:
Human Disease

ARC syndrome

Term ID
DOID:0050763
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 )
Relationships
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Genes Involved
Zebrafish Models