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OrphaMine: A platform for analyzing data about rare diseases

© INRIA Sophie Auvin - O comme Ordinateur

OrphaMine is a platform which is developed by the Orpailleur Inria Team for integrating, visualizing and analyzing data about rare diseases (such diseases are often related to genetic problems and have a weak prevalence). The data which are at the heart of the platform are extracted from the Orphadata website ( which integrates free access data from Orphanet (INSERM, 1997). The platform relies on the ontologies ORDO (Orphanet Rare Disease Ontology) and HPO (Human Phenotype Ontology) for proposing different analyses and visualizations related to one or several rare diseases (

Keywords: Visualization Data mining Knowledge discovery