Diseasecard: Rare Diseases Research Portal

About the resource

Type of resource: Database
License/availability: Open source
Website: Click here to view website
User documentation: Click here to view documentation
Relevant publication: Click here to view a publication on this resource


Diseasecard is a mature collaborative portal focused on the integration and dissemination of genetic and medical information regarding rare genetic diseases. Its pioneering approach provides a holistic perspective over a comprehensive rare diseases network for researchers, clinicians and bioinformatics developers. Connecting over 20 distinct heterogeneous resources, Diseasecard’s web workspace provides direct access to the most relevant scientific knowledge regarding a given disease, through a navigation hyper-tree and the LiveView interaction, enabling in-context browsing. The latest version is built on top of the COEUS framework, thus enabling a semantic layer that is available for the semantic enrichment of rare diseases knowledge. Diseasecard was developed by the bioinformatics group of the University of Aveiro (UAVR).