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: 4.1
Number of terms: 15302
Last loaded: Wed Jun 29 11:51:08 BST 2022

license

https://creativecommons.org/licenses/by/4.0/

creator

Boulares Ouchenne

Marc Hanauer

Ana Rath

Annie Olry

Valérie Lanneau

David Lagorce

created

2013-06-20T12:00:00

modified

2021-12-15T12:29:53