Orphanet is a comprehensive online resource dedicated to gathering and providing information on rare diseases and orphan drugs. Established in France in 1997 at the advent of the internet, its primary goal is to improve the diagnosis, care, and treatment of individuals living with rare diseases.
It maintains a database of rare diseases, including their classifications and related genes and provides directories of:
  • Orphan drugs
  • Patient organizations
  • Healthcare professionals and institutions
  • Expert centers
  • Diagnostic laboratories
  • Ongoing research and clinical trials
From 2000, this initiative became a European endeavour supported by grants from the European Commission: Orphanet has gradually grown to a network of 41 countries, within Europe and across the globe.
Over the past 20 years, Orphanet has become the reference source of information on rare diseases. As such, Orphanet is committed to meeting new challenges arise from a rapidly evolving political, scientific, and informatics landscape.
To empower everyone – healthcare professionals, patients, and caregivers – with readily accessible, high-quality online information, facilitating the identification of rare disease patients and contributing to the creation of extensive, computable, and reusable scientific data.