OnlineIMD

Farber disease

  • Synonym(s)
    • Acid ceramidase deficiency
  • Type
    Disease
  • External link(s)
    • Orphanet
  • Gene
    • ASAH1 / N-acylsphingosine amidohydrolase 1
      • 8p22
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • N-acylsphingosine amidohydrolase 1
  • Disease group(s)
    • 20.1    Disorders of sphingolipid degradation
  • Child entries
    • Farber disease, primary neurologic phenotype
    • Farber disease, inflammatory phenotype