Orphanet maintains the Orphanet nomenclature of rare diseases (ORPHAcodes), a unique and multilingual standard and a specific terminology for rare diseases, essential in improving rare disease visibility in health and research information systems. Orphadata provides several data formats, extracted twice a year, from the Orphanet scientific knowledge base that 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

Available through 4 distinct services: