Linking Open Data for Rare Diseases



Description: An integrated ORPHA browser enrich with HPO data and OMIM disease descriptions. The application features: 1. A RDF database with a SPARQL endpoint 2. A bigdata infrastructure allowing access to JSON objects through web services 3. a user interface written in ruby paper is available at : https://www.researchgate.net/publication/297693340_LORD_a_phenotype-genotype_semantically_integrated_biomedical_data_tool_to_support_rare_disease_diagnosis_coding_in_health_information_systems

Institution: AP-HP

Contacts: remy.choquet@aphp.fr

Home Page: http://enlord.bndmr.fr

Ontologies Used