Orphanet Rare Disease Ontology

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, UMLS, MedDRA),databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Geantlas) or classifications (ICD10).

Ontology information

Ontology ID: ordo
Version: 3.0
Number of terms: 14671
Last loaded: Mon Jul 13 06:59:37 BST 2020


Marc Hanauer

Samuel Demarest

Ana Rath

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Annie Olry

James Malone

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David Lagorce

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