300 million people in the world live with a rare disease, united by common challenges, many resulting from poor visibility and knowledge of their disease. Orphanet’s powerful knowledge base, accessible through a range of ressources including those presented here on www.orphadata.com, provides the data needed to improve every step of the care pathway.
The Orphanet knowledge base is structured around the Orphanet nomenclature of rare diseases, a dedicated and globally-recognised standard that improves data interoperability between healthcare and research information systems. The Orphanet knowledge base is developed, maintained and coordinated by the US14-Orphanet department at the French National Institute of Health and Medical Research in Paris, France. Orphanet also produces the Orphadata platform.
The Orphadata platform provides access to a range of resources, services and tools derived from the Orphanet knowledge base. One of these resources is Orphadata Science, comprised of comprehensive, high-quality downloadable datasets and ontologies derived from the Orphanet knowledge base, made available through the CC BY 4.0 licence in a reusable and computable format. Orphadata Science has been designated as an ELIXIR Core Data Resource and a Global Core Biodata Resource, thus recognising their contribution to the biodata ecosystem. Orphadata Science resources and licencing information are clearly indicated on this site.
The Orphadata platform also provides access to resources aimed at faciliating the integration of the Orphanet nomenclature of rare diseases – ORPHAcodes into information systems, and to an expanding range of request datasets, services and tools, Orphadata Products, where the access may vary depending on your status and intended use.
