Orphanet: the international reference for rare diseases

Orphanet offers a range of freely accessible services:

- An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications.
- An encyclopaedia of rare diseases.
- An inventory of orphan drugs at all stages of development.
- A directory of expert resources, providing information on expert clinics, medical laboratories and diagnostic tests, ongoing research projects, clinical trials, registries/biobanks, networks, technological platforms, and patient organisations, in the field of rare diseases, in each of the countries of the Orphanet consortium.
- An encyclopaedia of recommendations and guidelines for emergency medical care and anaesthesia.
- A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs (in English and French).
- A collection of thematic reports, called the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
- A platform, called Orphadata, providing high-quality datasets related to rare diseases and orphan drugs, in a reusable and computable format.
- The Orphanet Rare Disease Ontology (ORDO), a structured vocabulary for rare diseases derived from the Orphanet database, capturing relationships between diseases, genes and other relevant features, and providing integrated, re-usable data for computational analysis.

Click here to visit the Orphanet website.