Orphanet Journal of Rare Diseases - Orphanet Journal of Rare Diseases is the official journal of Orphanet, the portal for rare diseases and orphan drugs.
About Orphanet
Orphanet (www.orpha.net) is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems.
Orphanet makes available:
- An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications, cross-referenced with other terminologies.
- Annotations with associated genes, phenotypes and epidemiological data. An encyclopedia of rare diseases in nine languages.
- An inventory of orphan drugs at all stages of development, from orphan designation to European market authorization.
- A directory of specialised services, providing information on expert clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in the field of rare diseases, in each of the countries in Orphanet's network.
- An encyclopedia of recommendations and guidelines for emergency medical care.
- 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, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
- Free access to Orphanet data for research purposes via www.orphadata.com.