OnlineIMD

Chediak-Higashi syndrome

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • LYST / Lysosomal Trafficking Regulator
      • 1q42.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Lysosomal trafficking regulator protein
  • Disease group(s)
    • 19.4    Disorders of lysosome-related organelle biogenesis
  • Child entries
    • Chediak-Higashi syndrome, attenuated form