Orphanet is the largest international Rare Disease information portal. It is a public resource and free to use for anyone. It is a reliable source of information on Rare Diseases and the information is standardised, validated and curated.
Orphanet enables you to find out about:
- Rare diseases, including signs and symptoms
- National and European centres of expertise for rare diseases
- National and European patient organisations that provide support for people living with rare diseases
- Expert resources including clinical trials, ongoing research projects, medical laboratories and registries
- Clinical Practice Guidelines for some rare diseases
- An inventory of orphan drugs authorised by the European Medicines Agency
Irish data on Orphanet is managed by the HSE’s National Rare Diseases Office. If you want to register your service or information on Orphanet, contact Orphanet Ireland at Orphanet.Ireland@mater.ie
