OntoOrpha : an ontology to support edition and audit of rare diseases knowledge in Orphanet
Résumé
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.
Domaines
Intelligence artificielle [cs.AI]
Fichier principal
2011ICBO.pdf (1.06 Mo)
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2011ICBO_FINAL.pdf (10.34 Mo)
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