Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

Author:

Rath Ana,Olry Annie,Dhombres Ferdinand,Brandt Maja Miličić,Urbero Bruno,Ayme Segolene

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. A new face and new challenges for online Mendelian inheritance in man (OMIM);Amberger;Hum Mutat,2011

2. Information on rare diseases: the Orphanet project;Ayme;Rev Med Interne,1998

3. Knowledge driven discovery goes semantic;Blomberg;Eur Fed Med Chem Yearbook,2011

4. Biomedical ontologies in action: role in knowledge management, data integration and decision support;Bodenreider;Yearb Med Inform,2008

5. Dhombres F Vandenbussche P-Y Rath A Olry A Hanauer M Urbero B Charlet J 2011 OntoOrpha : an ontology to support edition and audit of rare diseases knowledge in Orphanet 241 243

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