Un outil de visualisation de classifications et d'intégration de données phénotypiques et génétiques pour faciliter le codage des maladies rares

Establishing the diagnosis and coding for a rare disease (RD) needs to characterize multiple information including patient's phenotype and genotype. A major barrier to coding is a lack of consolidation of such information, scattered in several resources such as Orphanet, OMIM or HPO. We developed a web portal, Linking Open data for RD (LORD), offering an integrated view of 8,336 RDs linked to more than 12,500 signs and 3,000 genes. It allows navigating through the relationships between diseases, signs and genes, and provides Application Programming Interfaces for its integration in information systems (IS). LORD is dedicated to the 131 French RD reference centers and 501 competence centers, for coding RD diagnoses in the health IS. Articles courts des 15es Journées francophones d’informatique médicale, JFIM 2014, pages 198–203 Fès, Maroc, 12–13 juin 2014 Mots-clés : Ontologies des maladies rares ; Big Data ; Codage diagnostique ; Web sémantique ; Informatique médicale ; Services web

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