| Acronym | ORDO |
| Visibility | Public |
| 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. 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). The ontology will be maintained by Orphanet and further populated with new data. Orphanet classifications can be browsed in the OLS view. 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).
Orphanet罕见病本体（ORDO）是由Orphanet网站和EBI联合开发的，旨在为罕见病提供一个结构化的词汇表，捕捉疾病、基因和其他相关特征之间的关系，这将成为罕见病计算分析的有用资源。它来自于Orphanet数据库（www.orpha.net），这是一个专门针对罕见疾病的多语言数据库，这些疾病来自文献，并得到了国际专家的验证。它整合了分类学（罕见病的分类）、关系（基因-疾病关系、流行病学数据）以及与其他术语（MeSH, SNOMED CT, UMLS, MedDRA）、数据库（OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Geantlas）或分类（ICD10）的联系。本体将由Orphanet维护，并进一步填充新的数据。Orphanet的分类可在OLS视图中浏览。Orphanet罕见病本体每月都会更新，并遵循OBO的术语废止准则。它构成了由Orphanet制作和维护的官方罕见疾病本体（INSERM，US14）。 |
| Status | Production |
| Format | OWL |
| Contact | Ana Rath, ordo.orphanet@inserm.fr |
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