Orphanet Rare Diseases Ontology in OBO (deprecated)

Last uploaded: February 4, 2014
Details
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
Categories
Phenotype
Human
Health
Biomedical Resources
Contact
Creation date
February 4, 2014
Homepage
http://www.orpha.net See more...
Submission date
February 4, 2014
Version information
http://www.orpha.net/version1.0 See more...
uri
http://www.orpha.net/ontology/orphanet.owl
http://www.orpha.net/ontology/orphanet.owl
Submissions
Version Released Uploaded Downloads
http://www.orpha.net/version1.0 (Parsed, Indexed, Metrics, Annotator) 02/04/2014 02/04/2014 OBO | CSV | RDF/XML
Metrics
Classes 11,699
Individuals 0
Properties 12
Maximum depth 11
Maximum number of children 3,408
Average number of children 13
Classes with a single child 294
Classes with more than 25 children 11
Classes with no definition 11,699
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Projects using ORDO_OBO

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