Nomenclature, classifications and scientific data on rare diseases exploitable in an ontological form in OWL and OBO formats.
A unique rare disease ontology The Orphanet Rare Disease ontology (ORDO) is jointly developed by Orphanet and the European Bioinformatics Institute to provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource for the computational analysis of rare diseases. It derived from the Orphanet database (www.orpha.net), a multilingual database dedicated to rare diseases populated from literature and validated by international experts. It integrates a nosology (classification of rare diseases), relationships (gene-disease relations, epiemological data) and connections with other terminologies (MeSH, UMLS, MedDRA),databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Geantlas) or classifications (ICD10). Orphanet classifications can be browsed in the OLS view (http://www.ebi.ac.uk/ols/ontologies/ordo). The Orphanet Rare Disease Ontology is updated twice a year and follows the OBO guidelines on deprecation of terms. It constitutes the official ontology of rare diseases produced and maintained by Orphanet (INSERM, US14).