Orphanet is the reference resource for information and data on rare diseases and orphan drugs. Orphanet derives from its knowledge base an ontology of rare diseases (Orphanet Rare Disease Ontology), information on rare diseases (Orphanet website www.orpha.net) and data on rare diseases (www.orphadata.org).

Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases. Orphanet is a multilingual database (English, French, German, Italian, Spanish, Dutch, Portuguese) dedicated to rare diseases populated from literature and validated by international experts. Orphanet's website offers a range of freely accessible services including: an inventory of rare diseases mapped with resources as OMIM, ICD10, MeSH and UMLS and a classification of diseases elaborated using existing published expert classifications, an encyclopaedia of rare diseases,  an inventory of orphan drugs at all stages of development, a directory of expert resources (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 consortium.

Orphanet provides access to a range of datasets for research purposes in XML format via the platform www.orphadata.org. It also provides the Orphanet Rare Disease Ontology (ORDO) (http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php), a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which forms a useful resource for the computational analysis of rare diseases.


Year established: 


Principal investigator: 

Ana Rath

Type of service: