Orphanet

Available information

Orphanet is an online database that aims to gather, provide, and improve knowledge on rare diseases to enhance diagnosis, care, and treatment for patients. It maintains a standard nomenclature of rare diseases through ORPHAcodes, making these conditions more visible in health and research information systems. The website contains no advertising and is available in nine languages: English, French, German, Dutch, Spanish, Italian, Portuguese, Polish, and Czech. Users can search for diseases affecting fewer than 1 person per 2,000 based on European data, either by entering the disease name (e.g., progeria) to receive prevalence and definition information, or by using an ICD code, OMIM code, or associated gene name. The diagnostic tests section lists tests used to establish a rare disease diagnosis and laboratories competent to perform them, including constitutional genetic tests for non-rare diseases, genetic susceptibility conditions, and pharmacogenetics; searches can be filtered by country, specialty, objective, technique, or purpose. Professionals in the rare disease field who have agreed to be listed are searchable, including consultants, physicians in expert centres, biologists, researchers, patient organisation representatives, network coordinators, clinical trial principal investigators, and registry or biobank managers. The institutions section includes expert centres, research or clinical laboratories, patient organisations, and institutions hosting registries or biobanks, with information provided by listed professionals. For a given rare disease, users can find corresponding centres of expertise or networks dedicated to medical management and genetic counselling.