Orphanet

Orphanet was launched by INSERM in France in 1997 to address the fragmentation of rare-disease information across Europe. It now operates as a consortium of national teams in roughly 40 countries and maintains the ORPHAcode, the rare-disease nomenclature used by European Reference Networks, by the European Commission's orphan-drug regulations and by most rare-disease registries on the continent.

The public portal lists more than 6,000 rare diseases with epidemiology, inheritance, age of onset, related genes, orphan drugs, expert centres and patient-organisation contacts in multiple languages. The Orphadata service distributes the underlying data in machine-readable form, and the Orphanet Rare Disease Ontology (ORDO) provides the structured vocabulary version. CC BY 4.0.