Article
Harmonising phenomics information for a better interoperability in the rare disease field.
European journal of medical genetics - 1 Nov 2018
Maiella Sylvie, Olry Annie, Hanauer Marc, Lanneau Valérie, Lourghi Halima, Donadille Bruno, Rodwell Charlotte, Köhler Sebastian, Seelow Dominik, Jupp Simon, Parkinson Helen, Groza Tudor, Brudno Michael, Robinson Peter N, Rath Ana
Abstract excerpt
HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via the E-Rare 3 ERA-NET program. This project builds on three resources largely adopted by the rare disease (RD) community: Orphanet, its ontology ORDO (the Orphanet Rare Disease Ontology), HPO (the Human Phenotype Ontology) as well as PhenoTips software for...
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