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Orphanet Rare Diseases Ontology in OBO (deprecated)
Last uploaded:
February 4, 2014
| Acronym | ORDO_OBO |
| Visibility | Public |
| View of ontology | ORDO |
| Description | 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). |
| Status | Retired |
| Format | OBO |
| Contact | Ana Rath, ordo.orphanet@inserm.fr |
| Categories | Biomedical Resources, Health, Human, Phenotype |
| Version | Released | Uploaded | Downloads |
|---|---|---|---|
| http://www.orpha.net/version1.0 (Parsed, Indexed, Metrics, Annotator) | 02/04/2014 | 02/04/2014 | OBO | CSV | RDF/XML |