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. 2015 AMIA https://knowledge.amia.org/59310-amia-1.2741865/t004-1.2745466/f004-1.2745467/2248215-1.2745783/2248756-1.2745780 conf/amia/2015 db/conf/amia/amia2015.html#ChoquetMFCVDL15