Department of Bioinformatics, The Mount Desert Island Biological Laboratory, Salisbury Cove, ME 04672, USA.
Database (Oxford). 2012 Mar 20;2012:bar065. doi: 10.1093/database/bar065. Print 2012.
The Comparative Toxicogenomics Database (CTD) is a public resource that promotes understanding about the effects of environmental chemicals on human health. CTD biocurators manually curate a triad of chemical-gene, chemical-disease and gene-disease relationships from the scientific literature. The CTD curation paradigm uses controlled vocabularies for chemicals, genes and diseases. To curate disease information, CTD first had to identify a source of controlled terms. Two resources seemed to be good candidates: the Online Mendelian Inheritance in Man (OMIM) and the 'Diseases' branch of the National Library of Medicine's Medical Subject Headers (MeSH). To maximize the advantages of both, CTD biocurators undertook a novel initiative to map the flat list of OMIM disease terms into the hierarchical nature of the MeSH vocabulary. The result is CTD's 'merged disease vocabulary' (MEDIC), a unique resource that integrates OMIM terms, synonyms and identifiers with MeSH terms, synonyms, definitions, identifiers and hierarchical relationships. MEDIC is both a deep and broad vocabulary, composed of 9700 unique diseases described by more than 67 000 terms (including synonyms). It is freely available to download in various formats from CTD. While neither a true ontology nor a perfect solution, this vocabulary has nonetheless proved to be extremely successful and practical for our biocurators in generating over 2.5 million disease-associated toxicogenomic relationships in CTD. Other external databases have also begun to adopt MEDIC for their disease vocabulary. Here, we describe the construction, implementation, maintenance and use of MEDIC to raise awareness of this resource and to offer it as a putative scaffold in the formal construction of an official disease ontology. DATABASE URL: http://ctd.mdibl.org/voc.go?type=disease.
比较毒理学基因组学数据库（CTD）是一个公共资源，旨在增进对环境化学物质对人类健康影响的了解。CTD 生物注释员从科学文献中手动注释化学物质-基因、化学物质-疾病和基因-疾病的三联体关系。CTD 注释范式使用化学物质、基因和疾病的受控词汇。为了注释疾病信息，CTD 首先必须确定受控术语的来源。有两个资源似乎是很好的候选者：在线人类孟德尔遗传（OMIM）和美国国家医学图书馆医学主题词表（MeSH）的“疾病”分支。为了最大限度地发挥两者的优势，CTD 生物注释员采取了一项新颖的举措，将 OMIM 疾病术语的平面列表映射到 MeSH 词汇的层次结构中。结果是 CTD 的“合并疾病词汇”（MEDIC），这是一个独特的资源，它将 OMIM 术语、同义词和标识符与 MeSH 术语、同义词、定义、标识符和层次关系集成在一起。MEDIC 是一个既深又广的词汇，由超过 67000 个术语（包括同义词）描述的 9700 种独特疾病组成。它可以从 CTD 以各种格式免费下载。虽然它既不是真正的本体，也不是完美的解决方案，但这个词汇对于我们的生物注释员来说已经被证明是非常成功和实用的，他们用它在 CTD 中生成了超过 250 万个与疾病相关的毒理学基因组关系。其他外部数据库也开始为他们的疾病词汇采用 MEDIC。在这里，我们描述了 MEDIC 的构建、实现、维护和使用，以提高对这个资源的认识，并将其作为正式构建疾病本体的一个潜在支架。数据库 URL：http://ctd.mdibl.org/voc.go?type=disease。
