OnlineIMD

Cystinosis

  • Synonym(s)
    • Cystinosis
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • CTNS / Cystinosin
      • 17p13.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Lysosomal cystine transporter
  • Disease group(s)
    • 1.11    Disorders of amino acid transport