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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
| Acronym | ORDO |
| Visibility | Public |
| 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. 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). The ontology will be maintained by Orphanet and further populated with new data. Orphanet classifications can be browsed in the OLS view. 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). |
| Status | Production |
| Format | OWL |
| Contact | Ana Rath, ordo.orphanet@inserm.fr |
| Categories | Biomedical Resources, Health, Human, Phenotype |
| Version | Released | Uploaded | Downloads |
|---|---|---|---|
| 4.5 (Parsed, Indexed, Metrics, Annotator) | 07/03/2024 | 07/03/2024 | OWL | CSV | RDF/XML | Diff |
| 4.4 (Archived) | 12/13/2023 | 12/13/2023 | OWL | Diff |
| 4.3 (Archived) | 06/29/2023 | 06/29/2023 | OWL | Diff |
| 4.2 (Archived) | 12/05/2022 | 12/05/2022 | OWL | Diff |
| 4.1 (Archived) | 07/01/2022 | 06/27/2022 | OWL | Diff |
| 4.0 (Archived) | 12/15/2021 | 12/15/2021 | OWL | Diff |
| 3.3 (Archived) | 12/13/2021 | 12/13/2021 | OWL | Diff |
| 3.2 (Archived) | 07/06/2021 | 07/06/2021 | OWL | Diff |
| 3.1 (Archived) | 12/17/2020 | 12/17/2020 | OWL | Diff |
| 3.0 (Archived) | 07/10/2020 | 07/10/2020 | OWL | Diff |
| 3.0 (Archived) | 07/03/2020 | 07/03/2020 | OWL | Diff |
| 2.9.1 (Archived) | 03/09/2020 | 03/09/2020 | OWL | Diff |
| 2.9 (Archived) | 12/04/2019 | 12/04/2019 | OWL | Diff |
| 2.8 (Archived) | 08/20/2019 | 08/20/2019 | OWL | Diff |
| 2.8 (Archived) | 05/29/2019 | 05/29/2019 | OWL | Diff |
| 2.7 (Archived) | 11/21/2018 | 11/21/2018 | OWL | Diff |
| 2.6 (Archived) | 07/12/2018 | 07/12/2018 | OWL | Diff |
| 2.5 (Archived) | 02/09/2018 | 02/09/2018 | OWL | Diff |
| 2.4 (Archived) | 07/05/2017 | 07/05/2017 | OWL | Diff |
| 2.3 (Archived) | 12/14/2016 | 12/14/2016 | OWL | Diff |
| 2.2 (Archived) | 06/22/2016 | 06/22/2016 | OWL | Diff |
| 2.1 (Archived) | 02/24/2016 | 02/24/2016 | OWL | Diff |
| 2.0 (Archived) | 01/13/2015 | 01/13/2015 | OWL | Diff |
| 1.5 (Archived) | 09/24/2014 | 09/24/2014 | OWL | Diff |
| 1.4 (Archived) | 07/15/2014 | 07/15/2014 | OWL | Diff |
| 1.3 (Archived) | 06/03/2014 | 06/03/2014 | OWL | Diff |
| 1.2 (Archived) | 05/12/2014 | 05/12/2014 | OWL | Diff |
| 1.1 (Archived) | 04/08/2014 | 04/10/2014 | OWL | Diff |
| 1.0 (Archived) | 01/31/2014 | 01/31/2014 | OWL |
| more... | |||
- ORDO Czech
- This ontology is the czech version of ORDO with definition, labels and synonyms in czech.
- ORDO GERMAN
- This ontology is the german version of ORDO with definition, labels and synonyms in german.
- ORDO SPANISH
- This ontology is the spanish version of ORDO with definition, labels and synonyms in spanish.
- ORDO FRENCH
- This ontology is the french version of ORDO with definition, labels and synonyms in french. Cette ontologie est la version française d'ORDO avec les définitions, labels et synonymes en français.
- ORDO ITALIAN
- This ontology is the italian version of ORDO with definition, labels and synonyms in italian.
- ORDO DUTCH
- This ontology is the dutch version of ORDO with definition, labels and synonyms in dutch.
- Orphanet Rare Diseases Ontology in OBO (deprecated)
- This is the OBO version of the Orphanet Rare Disease ontology (ORDO) which 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. 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).
- ORDO POLISH
- This ontology is the polish version of ORDO with definition, labels and synonyms in polish.
- ORDO Portuguese
- This ontology is the portuguese version of ORDO with definition, labels and synonyms in portuguese.
| Classes | 15,508 |
| Individuals | 0 |
| Properties | 14 |
| Maximum depth | 12 |
| Maximum number of children | 6,423 |
| Average number of children | 23 |
| Classes with a single child | 336 |
| Classes with more than 25 children | 22 |
| Classes with no definition | 8,638 |