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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
| Acronym | HRDO |
| Visibility | Public |
| 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> 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. This ontology is now available on Bioportal. |
| Status | Alpha |
| Format | OWL |
| Contact | Ferdinand Dhombres, ferdinand.dhombres@inserm.fr |
| Categories | Health, Human |
No views of HRDO available
| Classes | 13,539 |
| Individuals | 0 |
| Properties | 20 |
| Maximum depth | 12 |
| Maximum number of children | 3,514 |
| Average number of children | 13 |
| Classes with a single child | 276 |
| Classes with more than 25 children | 30 |
| Classes with no definition | 13,538 |