Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM

Stud Health Technol Inform. 2012;180:88-92.


In this paper, we introduce an application of Proxima and define a new measure of proximity between two concepts present in an ontology. The approach is based on the three dimensions of a conceptualization: intention with relations between concepts, expression with terms denoting concepts, and extension with instances of concepts. This preliminary work, in the field of rare diseases, involved the Orphanet Ontology of Rare Diseases (OntoOrpha) and corpus of texts extracted from Online Inheritance in Man (OMIM). The proximity measurements are consistent with an appropriate representation of groups of diseases in the ontology, which are derived from the Orphanet classifications of rare diseases. Other semantic relations are explored and new perspectives in medical knowledge curation are proposed.

MeSH terms

  • Databases, Factual*
  • Databases, Genetic*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Knowledge Management*
  • Rare Diseases / classification*
  • Rare Diseases / genetics*
  • Semantics*