Description: Orphanet is the reference information portal on rare diseases and orphan drugs for healthcare professionals and for general audience. Orphanet is led by a large European consortium of around 40 countries, coordinated by the French INSERM service unit. After ten years of evolution, Orphanet tools cannot support efficiently the editing, update and data sharing processes of a constantly growing rare diseases knowledge. In order to improve the editing workflow, we have conducted research, during the OntoOrpha projet, in order to build and use a rare diseases knowledge base in an Ontology-based architecture that complies with the W3C standards of the semantic web : OWL, RDF, SparQL and Skos. This project was conducted from 2010 to 2012 in Orphanet Production Unit, by the INSERM research unit U872 - Knowledge engineering for healthcare. The ontology design approach was based on both domain expertise (in rare diseases and in knowledge engineering) and knowledge extraction from Orphanet relational database. The rare diseases ontology designed during this project, OrphaOnto, allowed automated classification generation, semantic quality control procedures. New perspectives in rare diseases was also explored.At the end of the project, the OrphaOnto ontology was no longer maintained for diffusion.
Institution: Inserm, Paris, France
Contacts: Ferdinand Dhombres, Pierre-Yves Vandenbussche, Ana Rath, Marc Hanauer, Annie Olry, Bruno Urbero, Rmy Choquet, and Jean Charlet
Home Page: http://ics.upmc.fr/orphaonto