OntoOrpha : an ontology to support edition and audit of rare diseases knowledge in Orphanet

Ferdinand Dhombres , Pierre-Yves Vandenbussche , Ana Rath , Marc Hanauer , Annie Olry , Bruno Urbero , Rémy Choquet , Jean Charlet (1)

1 LIMICS - Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé

Orphanet is the reference information portal on rare dis- eases and orphan drugs, for healthcare professionals and for general audi- ence. After ten years of evolution, current Orphanet tools cannot support efficiently the edition, update and data sharing processes of a constantly growing rare diseases knowledge. In order to improve the edition work- flow, we conduct research 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. Our ontology design approach is based on both domain expertise (in rare diseases and in knowledge engineering) and knowledge extraction from our rela- tional database. The current version of OntoOrpha comprises over 11,000 classes and 190,000 annotations organized under a Rare Diseases Core Ontology. In comparison with current Orphanet edition tools, our preliminary ex- periments are consistent with : (1) better visualization of the knowledge base (2) improved classification edition procedures (3) improved annota- tion edition procedures (4) valid semantic validation procedures.

Mots clés: Ontology Building; knowledge engineering; rare disease

Domaines: Intelligence artificielle [cs.AI]

Ferdinand Dhombres, Pierre-Yves Vandenbussche, Ana Rath, Marc Hanauer, Annie Olry, et al.. OntoOrpha : an ontology to support edition and audit of rare diseases knowledge in Orphanet. 2nd International Conference on Biomedical Ontology, Jul 2011, Buffalo, United States. ⟨hal-03912146⟩