Overview

Diseasecard is an information retrieval tool for accessing and integrating genetic and medical information for health applications. Resorting to this integrated environment, clinicians are able to access and relate diseases data already available in the Internet, scattered along multiple databases. Diseasecard was developed by University of Aveiro Bioinformatics Group in collaboration with the Institute of Health Carlos III Bio-Computing and Public Health Unit.

Feedback

Feel free to evaluate and give us feedback on Diseasecard at http://goo.gl/U0f2Z.

What's new?

The new Diseasecard improves the existing system with extended functionalities for searching and exploring the most relevant rare diseases knowledge.

Search

Home search
Home search lets you search for any identifier in Diseasecard or access the powerful full-text search.
Quick search
Quick search is available everywhere within Diseasecard letting you jump right into other rare diseases.

Browse

Browse
Browsing displays all rare diseases arranged by their name and sorted by the number of connections in Diseasecard's network.

Explore

Sidebar
Sidebar tree display a list of all the connected resources for the rare disease entry being studied.
Hypertree
Hypertree is an innovative navigation approach to quickly assess the resource network for a given rare disease.


LiveView
LiveView displays external resources within Diseasecard, letting you keep focused on your research.

API


In addition to the web portal, Diseasecard also delivers a an API for developers, enabling everyone to include data from Diseasecard's knowledge base in new or existing applications.
LinkedData
LinkedData interface gives you direct access to all individuals in Diseasecard's rare diseases semantic network.
SPARQL
SPARQL endpoint gives you access to Diseasecard's knowledge base with the most powerful query language.

Frequently Asked Questions

Why can't I find the disease I am looking for?
Diseasecard uses a Solr index to provide an improved search experience. If you cannot find a rare disease, please make sure that: 1) the disease is in fact a rare disease, 2) if the disease name has more than one word, put the name in between '"', 3) check the rare diseases browser to see if the disease is there, and 4) try the advanced full-text search.

Why doesn't Diseasecard work in my browser?
To deliver the best end-user experience, Diseasecard relies on modern web interface technologies. Therefore, it is recommended that you keep your browser up to date to have the optimal Diseascard navigation experience. Learn here about updating your browser.

I found some incorrect data in Diseasecard, what can I do?
Diseasecard uses an automated data integration engine. Despite our efforts to enhance the quality of the autonomously extracted relationships amongst the multitude of Diseasecard's resources, sometimes these connections do not reflect the latest scientific knowledge. If you happen to find these, please provide us with your feedback. We look forward for your findings to keep improving Diseasecard.

Technology

Diseasecard is powered by COEUS, an innovative framework for Semantic Web application development.

Learn more about COEUS

Publications

An innovative portal for rare genetic diseases research: The semantic Diseasecard

Pedro Lopes, José Luís Oliveira
Journal of Biomedical Informatics
DOI: 10.1016/j.jbi.2013.08.006

Please use this reference when citing Diseasecard.

Integration of Genetic and Medical Information Through a Web Crawler System

Gaspar Dias, José Luís Oliveira, Francisco-Javier Vicente, Fernando Martín-Sánchez
Lecture Notes in Computer Science Volume 3745, 2005, pp 78-88
DOI: 10.1007/11573067_9

DiseaseCard: A Web-Based Tool for the Collaborative Integration of Genetic and Medical Information

José Luís Oliveira, Gaspar Dias, Ilídio Oliveira, Patrícia Rocha, Isabel Hermosilla, Javier Vicente, Inmaculada Spiteri, Fernando Martin-Sánchez, António Sousa Pereira
Lecture Notes in Computer Science Volume 3337, 2004, pp 409-417
DOI: 10.1007/978-3-540-30547-7_41

API

Diseasecard's provides a comprehensive API to access all rare diseases data collected in its knowledge base. The API is powered by COEUS' services and includes LinkedData interfaces, a SPARQL endpoint and a set of REST services.


Access API

SPARQL

COEUS enables a SPARQL endpoint by default. You can use it to query Diseasecard's knowledbge and load its data anywhere you want.

LinkedData

All Diseasecard knowledge can be integrated using LinkedData references. You can integrate it programmatically in your applications or you can navigate Diseasecard's network in the browser.
Sample LinkedData entries

Disclaimer

  1. Diseasecard is an on-going research project, aiming at the creation of a comprehensive rare diseases knowledge base.
  2. The premise behind Diseasecard is the autonomous lightweight integration of data in a single workspace, the card. The connected resources referenced in each rare disease card are external to the project, and maintained by their owners. The Diseasecard does not provide, nor maintains a database of disease information. In addition, the application does not change in any way the information retrieved from external sites.
  3. Collected data are freely available online and remain the intellectual property of the various original data sources. Any questions regarding acceptable use, copying, storage or distribution of individual data items should be directed to those sources. Diseasecard claims ownership and copyright on the total compilation of records in this database, and provides open and free access to the full database content for searching, browsing, record copying, and further dissemination on the strict understanding that no records are to be altered in any way (other than trivial format changes) and that Diseasecard and the original data sources are acknowledged in any subsequent usage of this information.
    • An additional note must be made regarding OMIM's database. The current OMIM web application does not allow the display of internal pages within external frames. As this would disrupt Diseasecard's LiveView features, a workaround was put in place to ensure the best user experience for Diseasecard's users. Consequently, the OMIM application displayed in Diseasecard's LiveView mode may not reflect the latest version available in the original OMIM page.
  4. Even if this application can be helpful to navigate the web, it does not substitute healthcare professionals. Please note that Diseasecard is not validated for clinical use nor did any official body approve it.
  5. Diseasecard developers cannot be held responsible for the erroneous use of any information retrieved and displayed by the tool. Whilst all reasonable efforts have been made to ensure that Diseasecard and its data are of consistent high quality, we make no warranty, express or implied, as to their completeness, accuracy or utility for any particular purpose. Diseasecard software and data may be used by others on the clear understanding that no liability for any damage or negative outcome whatsoever, either direct or indirect, shall rest upon the Diseasecard team or its sponsors, or any of their employees or agents.

Contacts

Pedro Lopes
pedrolopes@ua.pt
José Luís Oliveira
jlo@ua.pt
Main contributors
From ISCIII, Spain
Fernando Martín-Sánchez, Francisco-Javier Vicente
From University of Aveiro
Gaspar Dias, Hugo Pais

Endorsement

The development of Diseasecard and COEUS is being supported by the following institutions and projects.
University of Aveiro
ISCIII
InfoGenMed
InfoBioMed
GEN2PHEN
RD-Connect