Disease core ontology applied to Rare Diseases (HRDO)

Ontology Info

Field	Value
Acronyme	HRDO
Description	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 http://orphadata.org).<br><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). <br><br>Current production services of Orphanet developed ORDO, released in 2014, an ontology synchronized with their production database. This ontology is now available on Bioportal.
Format	OWL
Categories	Health, Human
Groups

Metric	Value
Classes	13,539
Individuals	0
Properties	20
Max Depth	12
Max Child Count	3,514
Average Child Count	13
Classes With One Child	276
Classes With More Than 25 Children	30
Classes With No Definition	13,538