Orphanet

Orphanet

• Inventory, classification and encyclopaedia of rare diseases, with genes involved
• Assistance-to-diagnosis tool
• Emergency guidelines
• Inventory of orphan drugs
• Directory of medical laboratories providing diagnostic tests
• Directory of expert centres
• Directory of ongoing research projects, clinical trials, registries and biobanks
• Directory of patient organisations
• Directory of professionals and institutions
• Newsletter
• Collection of thematic reports: Orphanet Reports Series