Orphadata API provides several GET to facilitate the exploitation of various rare disease-related datasets:

  • Rare diseases aligned with terminologies and databases
  • Classification of rare diseases
  • Linearisation of rare diseases
  • Genes associated with rare diseases
  • Clinical signs and symptoms in rare diseases
  • Epidemiology of rare diseases
  • Natural history of rare diseases
  • Rare diseases and functional consequences related to rare diseases

These data are updated twice a year (July and December) and are also available as downloadable files both in  XML and JSON formats

Data description is available  here and for further information please contact  Orphadata.