# Disease core ontology applied to Rare Diseases (HRDO)

> This resource was designed during a PhD in medical informatics (funded by INSERM, 2010-2012)....

- Page: https://library.schematica.io/model/d99b9477027e49b7949feb5f07b6128b
- Model type: Ontology
- License: CC BY 4.0
- Access type: Free
- Access method: Download
- Model size: Huge
- Formats: OWL
- Domains: Healthcare
- Audiences: Researcher
- External link: https://bioportal.bioontology.org/ontologies/HRDO
- Contact: Ferdinand Dhombres (ferdinand.dhombres@inserm.fr)
- Listed in library: 2025-06-12
- Last updated: 2025-09-10

## Description

## 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 |  |

## Metrics

| 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 |

## Projects using HRDO

- [PractiKPharma](https://bioportal.bioontology.org/projects/PractiKPharma)
- [Linking Open Data for Rare Diseases](https://bioportal.bioontology.org/projects/LORD)
- [ACCORDYS](https://bioportal.bioontology.org/projects/accordys)

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Source: https://library.schematica.io/model/d99b9477027e49b7949feb5f07b6128b