standards > terminology artifact > DOI:10.25504/FAIRsharing.1wm8em
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ready Disease core ontology applied to Rare Diseases

Abbreviation: HRDO

General Information
This resource was designed during a PhD in medical informatics (funded by INSERM, 2010-2012). Its components are (i) a core ontology consistent with a metamodel (disorders and groups of disorders, genes, clinical signs and their relations) and (ii) an instantiation of this metamodel with Orphanet Data (available on </ 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 ( using proximity measurements and (iv) opened perspectives in knowledge sharing (LORD, Current production services of Orphanet developed ORDO, released in 2014, an ontology synchronized with their production database. This ontology is now available on Bioportal.


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Created in 2013

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How to cite this record HRDO; Disease core ontology applied to Rare Diseases; DOI:; Last edited: Jan. 8, 2019, 1:36 p.m.; Last accessed: Oct 20 2021 2:56 a.m.

Record added: Oct. 24, 2017, 9:41 a.m.
Record updated: Jan. 8, 2019, 1:36 p.m.


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HRDO Ontology Display

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