OnlineIMD

CAD trifunctional protein deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • CAD / Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, and Dihydroorotase
      • 2p23.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
  • Disease group(s)
    • 16.1    Disorders of pyrimidine metabolism