LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems

Rémy Choquet, Meriem Maaroufi, Yannick Fonjallaz, Albane de Carrara, Pierre-Yves Vandenbussche, Ferdinand Dhombres, Paul Landais. LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems. In AMIA 2015, American Medical Informatics Association Annual Symposium, San Francisco, CA, USA, November 14-18, 2015. AMIA, 2015. [doi]

Abstract

Abstract is missing.