# Orphanet Rare Disease Ontology (ORDO)

> The Orphanet Rare Disease ontology (ORDO) is jointly developed by Orphanet and the EBI to...

- Page: https://library.schematica.io/model/ab987977c2c14538ba1b7c9fde7f8198
- Model type: Ontology
- License: CC BY 4.0
- Access type: Free
- Access method: Download
- Model size: Huge
- Formats: OWL
- Domains: Healthcare
- External link: https://bioportal.bioontology.org/ontologies/ORDO
- Contact: Ana Rath (ordo.orphanet@inserm.fr)
- Listed in library: 2025-06-12
- Last updated: 2025-09-10

## Description

## Ontology Info

| Field | Value |
|-------|-------|
| Acronyme | ORDO |
| Description | The Orphanet Rare Disease ontology (ORDO) is jointly developed by Orphanet and the EBI to provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource for the computational analysis of rare diseases. <br><br>It derived from the Orphanet database (www.orpha.net ) , a multilingual database dedicated to rare diseases populated from literature and validated by international experts. It integrates a nosology (classification of rare diseases), relationships (gene-disease relations, epiemological data) and connections with other terminologies (MeSH, SNOMED CT, UMLS, MedDRA),databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Geantlas) or classifications (ICD10). <br><br>The ontology will be maintained by Orphanet and further populated with new data. Orphanet classifications can be browsed in the OLS view.<br><br>The Orphanet Rare Disease Ontology is updated monthly and follows the OBO guidelines on deprecation of terms. It constitutes the official ontology of rare diseases produced and maintained by Orphanet (INSERM, US14).  |
| Format | OWL |
| Categories | Health, Biomedical Resources, Human, Phenotype |
| Groups |  |

## Metrics

| Metric | Value |
|--------|-------|
| Classes | 15,579 |
| Individuals | 0 |
| Properties | 14 |
| Max Depth | 12 |
| Max Child Count | 6,450 |
| Average Child Count | 23 |
| Classes With One Child | 334 |
| Classes With More Than 25 Children | 22 |
| Classes With No Definition | 8,692 |

## Projects using ORDO

- [Rehabilita, Disruptive Technologies for the Rehabilitation of the Future](https://bioportal.bioontology.org/projects/Rehabilita)
- [PractiKPharma](https://bioportal.bioontology.org/projects/PractiKPharma)
- [Radiology Gamuts Ontology](https://bioportal.bioontology.org/projects/RGO)
- [DisGeNET-RDF](https://bioportal.bioontology.org/projects/DisGeNET-RDF)
- [Cellosaurus](https://bioportal.bioontology.org/projects/Cellosaurus)
- [Linking Open Data for Rare Diseases](https://bioportal.bioontology.org/projects/LORD)
- [PubCaseFinder](https://bioportal.bioontology.org/projects/PCF)
- [NanbyoData](https://bioportal.bioontology.org/projects/ND)
- [Solving the Unsolved Rare Diseases](https://bioportal.bioontology.org/projects/Solve-RD)
- [Harmonising phenomics information for a better interoperability in the RD field](https://bioportal.bioontology.org/projects/hipbi-rd)
- [HPO - ORDO Ontological Module](https://bioportal.bioontology.org/projects/HOOM)

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Source: https://library.schematica.io/model/ab987977c2c14538ba1b7c9fde7f8198