University of Cambridge > > Disease Ontologies and Information (EBI, Hinxton, 19th June 2008) > Towards an Open Source Disease Ontology

Towards an Open Source Disease Ontology

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  • UserProf. Warren Kibbe (Northwestern University) & Prof. Lynn Schriml (U. Maryland School of Medicine)
  • ClockThursday 19 June 2008, 11:10-11:50
  • HouseWTCC, Hinxton.

If you have a question about this talk, please contact Dominic Clark.

During the past 5 years we have assembled an open source framework for a human disease ontology based on OBO principles. The development itself has been use case driven (mapping disease to billing and EMR data in clinical records being the original use cases). The Disease Ontology (DO) has gone through three major revisions, with each overcoming substantial limitations of the previous version. The initial DO was designed primarily around ICD codes, the second was based on SNOMED , MeSH and UMLS , and the third was a reorganization of those terms along more clinically relevant axes, those axes being anatomical location, environment, infectious agent and aberrant process. DO needs to and is actively moving towards building a community of mutual invested members, most likely with multiple communities of practice growing and evolving around specific areas or viewpoints of disease. We also recognize the importance of linking signs and symptoms (phenotype) with disease, and providing a framework for linking phenotype through disease to genetic information.

This talk is part of the Disease Ontologies and Information (EBI, Hinxton, 19th June 2008) series.

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