Orphanet Rare Disease Ontology (ORDO)

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

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