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Article

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

Studies in health technology and informatics - 1 Jan 2012

Aimé X, Charlet J, Furst F, Kuntz P, Trichet F, Dhombres F

Abstract excerpt

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...

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PMID: 22874158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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