Orphanet Rare Disease Ontology
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下载链接：
https://www.ebi.ac.uk/ols4/ontologies/ordo
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资源简介：
Orphanet Rare Disease Ontology (ORDO) 是一个结构化词汇表，专注于罕见疾病的分类和关系描述。该数据库由Orphanet和欧洲生物信息学研究所(EBI)联合开发，整合了罕见疾病分类、基因-疾病关系、流行病学数据，并与多个医学术语和数据库(如MeSH、OMIM、ICD10等)建立连接。ORDO源自Orphanet数据库，是一个经过国际专家验证的多语言资源，为罕见疾病的计算分析提供支持。
Orphanet Rare Disease Ontology (ORDO) is a structured vocabulary focused on the classification and relational characterization of rare diseases. Co-developed by Orphanet and the European Bioinformatics Institute (EBI), this ontology integrates rare disease classification frameworks, gene-disease associations, and epidemiological data, while establishing connections with multiple medical terminologies and databases including MeSH, OMIM, ICD-10 and others. Derived from the Orphanet database, ORDO is an internationally expert-validated multilingual resource that supports computational analyses of rare diseases.
提供机构：
Orphanet; 欧洲生物信息学研究所
