Orphanet (www.orpha.net) is a unique resource, gathering and improving knowledge on rare diseases (RD) so as to improve the diagnosis, care and treatment of patients. Orphanet aims to provide high-quality information on RD, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAnumber), essential in improving the visibility of rare diseases in health and research information systems. Discover our datasets for research and our ontology, ORDO, via www.orphadata.org, an ELIXIR Core Data Resource.
Brands: Orphanet www.orpha.net
Orphanet Rare Disease Ontology (ORDO)