OntoOrpha: An ontology to support the editing and audit of knowledge of rare diseases in ORPHANET

ORPHANET is the reference information portal on rare diseases and orphan drugs for healthcare professionals and for general audience. After ten years of evolution, current ORPHANET tools cannot support efficiently the edition, update and data sharing processes demanded by a constantly growing rare diseases knowledge. In order to improve the editing workflow, we are conducting 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 relational 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 the current ORPHANET editing tools, our preliminary experiments are consistent with: (1) better visualization of the knowledge base (2) improved classification editing procedures (3) improved annotation editing procedures (4) valid semantic validation procedures.