OnlineIMD

Dyskeratosis congenita

  • Type
    Phenotype
  • External link(s)
    • Orphanet
  • Associated genes
    Gene list
    • ACD
    • CTC1
    • DKC1 X-linked dyskeratosis congenita
    • NAF1
    • NHP2 Autosomal recessive dyskeratosis congenita type 2
    • NOP10 Autosomal recessive dyskeratosis congenita type 1
    • NPM1 Nucleophosmin 1 deficiency
    • PARN Autosomal recessive dyskeratosis congenita type 6
    • POT1
    • RPA1
    • RTEL1
    • STN1
    • TERC
    • TERT
    • TINF2
    • TYMS Thymidylate synthetase deficiency
    • WRAP53
    • ZCCHC8
  • Disease group(s)
    • 16.5    Other disorders of ribosomal biogenesis