Orphanet Ontology of Rare Diseases

OntoOrpha is an ontology of Rare Diseases that includes clinical signs (phenotypes) and genes. The full Orphanet nomenclature (labels, synonyms) is provided in six languages with external references annotations (ICD, OMIM, HGNC, Genatlas, Swissprot). This version now includes epidemiology data related to rare diseases in Europe (class of prevalence, average age of onset, average age at death) extracted from the literature.


Part of an ongoing research project, this ontology is developed to support editorial procedures of Orphanet knowledge bases and services. Current alpha version is under active development. The version provided on bioportal contains only the main english labels. A version on the ontology with the full nomenclature of rare diseases (labels and synonyms in 6 languages based on skos annotations) is available on demand.






OntoOrpha is available under Creative Commons license ''Attribution-Non-Commercial-No Derivative Works 3.0''