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Signs, Symptoms and Findings: Towards an Ontology for Clinical Phenotypes

Venue and Dates

Workshop Venue:

Università degli Studi di Milano Bicocca, Milan, Italy.


Sept. 4-5, 2009



As a followup to the first workshop on Signs, Symptoms and Findings: Towards an Ontology for Clinical Phenotypes held in Dallas, TX in Sept 2008 ( the DISCo Bioinformatics Group is organizing a new gathering of researchers in Milan to further discuss issues regarding the construction of an Ontology for Clinical Phenotypes. The aims of the workshop are similar to those of the Dallas Workshop and are reported hereafter.

The aims of clinical and translational research are to achieve a better understanding of the pathogenesis of human disease in order to develop effective diagnostic, therapeutic and prevention strategies. Biomedical informatics can play an important role in supporting this research by facilitating the management, integration, analysis and exchange of data derived from and related to the research problems being studied. A key aspect of this support is to bring clarity, rigor and formalism to the representation of

  • signs, symptoms, clinical and laboratory findings, clinical condition or phenotype, disease diagnosis, treatment, treatment response, outcome and follow-up;
  • disease causation, initiation, progression, pathogenesis;
  • the interface between the clinical and the biomolecular world.

Therefore allowing the data to be more readily retrievable and shareable, and more amenable to statistical analysis or algorithmic reasoning.

The goals of the workshop are the following

  • To utilize consistent ontological design and development principles to describe disease signs and symptoms, clinical and laboratory findings, and their interrelations.
  • To delineate the roles that signs, symptoms and findings play in both clinical patient management and in clinical research.
  • To develop a clear understanding and representation of the distinction between clinical and pre-clinical manifestations of diseases.
  • To incorporate in such understanding a clear notion of temporal evolution of a phenotype, that took into account the evidence gathered from various sources.
  • To take further steps towards harmonizing the ontological representation of disease signs and symptoms and clinical and laboratory findings with existing and emerging standards in knowledge representation from the health informatics and bioinformatics communities.
  • To explore integration with the most important ontological and database resources available the omics arena (genomics, transcriptomics, proteomics, epigenomics, pharmacogenomics, phenomics, etc...).

Final Program and Speaker's Presentations

  • Final Program page or leaflet
  • Speaker's presentation (abstract and ppt/pdf download) page

Travel Information

  • How to reach the workshop venue and hotel: go to this page
  • Do I need a visa to enter Italy? Go to this page

Lodging Information

The lodging for all invited participants will be covered by the organizing committee.


International Organizers

  • Barry Smith
  • Richard Scheuermann

Local Organizers

Contact person


  • Marco Antoniotti (University of Milano-Bicocca, DISCo)
  • Sivaram Arabandi (Case Western Reserve University)
  • Gianluca Colombo (University of Milano-Bicocca, DISCo) 
  • Bernard De Bono (EBI)
  • Gerard Freriks (Electronic Record Company Director, Netherlands)
  • Pierdaniele Giaretta (University of Verona, Faculty of Philosophy)
  • Albert Goldfain (University at Buffalo)
  • Nicola Guarino (CNR - Institute of Cognitive Science and Technology)
  • Michaela Gündel (Freelance Professional)
  • William Hogan (University of Pittsburg)
  • Andrew James (Sickkids Hospital, Toronto)
  • Peter Krawitz (Institut für Medizinische Genetik der Charité - Universitätsmedizin Berlin)
  • Leonardo Lezcano (University of Alcala)
  • Giancarlo Mauri (University of Milano-Bicocca, DISCo)
  • Daniele Merico (Terrence Donnelly Centre for Cellular and Biomolecular Research, Toronto)
  • Luciano Milanesi (CNR-ITB)
  • Riichiro Mizoguchi (University of Osaka)
  • Domenico Pisanelli (ISTC-CNR, Rome)
  • Alan Ruttenberg (Science Commons)
  • Richard Scheuermann (University of Texas Southwestern Medical Centre)
  • Laura Slaughter (Norwegian University of Science and Technology)
  • Barry Smith (National Centre for Biomedial Ontology, University at Buffalo)

Useful Links & Related Events

Ontology for General Medical Science 

Infectious Disease Ontology 2008


NCBO Bioportal

Mammalian Phenotype Ontology

OBO Foundry

Phenotypic Quality Ontology

Basic Formal Ontology


Participants are invited to submit contributions to the special Issue on Ontologies for Clinical and Translational Research. Special Issue will be hosted by the Journal of Biomedical Informatics.