This is a web-based resource that aggregates, secures, and stores deidentified patient information from 12 different registries for rare diseases (5,277 patients with 178 different rare dieseases) all in one place. This platform allows for the wider dissemination of data collected by individual rare disease registries as well as the increased accessibility of data for researchers conducting intra-registry and cross-registry queries in the genesis of hypotheses for potential study. It uses the BD2K PIC-SURE RESTful API international ontologies for semantic interoperability, mappings to UMLS Concept Unique Identifiers, and mappings to 55 different GRDR Common Data Elements.
User Interface: https://grdr.hms.harvard.edu
10 Minute Demo Video: https://vimeo.com/151171529