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URL: http://purl.bioontology.org/ontology/HRDO
Proper Citation: Disease core ontology applied to Rare Diseases (RRID:SCR_010308)
Description: A core ontology consistent with a metamodel (disorders and groups of disorders, genes, clinical signs and their relations) and an instantiation of this metamodel with Orphanet Data (available on http://orphadata.org). br> Research experiments demonstrated (i) efficient classifications generation based on SPARQL Construct, (ii) perspectives in semantic audit of a knowledge base, (iii) semantic comparison with OMIM (www.omim.org) using proximity measurements and (iv) opened perspectives in knowledge sharing (LORD, http://lord.bndmr.fr). Current production services of Orphanet developed ORDO, released in 2014, an ontology synchronized with their production database.
Abbreviations: HRDO
Resource Type: data or information resource, controlled vocabulary, ontology
Keywords: owl
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