Jensen Mark, Cox Alexander P, Chaudhry Naveed, Ng Marcus, Sule Donat, Duncan William, Ray Patrick, Weinstock-Guttman Bianca, Smith Barry, Ruttenberg Alan, Szigeti Kinga, Diehl Alexander D
Department of Neurology, University at Buffalo School of Medicine and Biomedical Sciences, 701 Ellicott Street, Buffalo, NY 14203, USA.
J Biomed Semantics. 2013 Dec 6;4(1):42. doi: 10.1186/2041-1480-4-42.
We are developing the Neurological Disease Ontology (ND) to provide a framework to enable representation of aspects of neurological diseases that are relevant to their treatment and study. ND is a representational tool that addresses the need for unambiguous annotation, storage, and retrieval of data associated with the treatment and study of neurological diseases. ND is being developed in compliance with the Open Biomedical Ontology Foundry principles and builds upon the paradigm established by the Ontology for General Medical Science (OGMS) for the representation of entities in the domain of disease and medical practice. Initial applications of ND will include the annotation and analysis of large data sets and patient records for Alzheimer's disease, multiple sclerosis, and stroke.
ND is implemented in OWL 2 and currently has more than 450 terms that refer to and describe various aspects of neurological diseases. ND directly imports the development version of OGMS, which uses BFO 2. Term development in ND has primarily extended the OGMS terms 'disease', 'diagnosis', 'disease course', and 'disorder'. We have imported and utilize over 700 classes from related ontology efforts including the Foundational Model of Anatomy, Ontology for Biomedical Investigations, and Protein Ontology. ND terms are annotated with ontology metadata such as a label (term name), term editors, textual definition, definition source, curation status, and alternative terms (synonyms). Many terms have logical definitions in addition to these annotations. Current development has focused on the establishment of the upper-level structure of the ND hierarchy, as well as on the representation of Alzheimer's disease, multiple sclerosis, and stroke. The ontology is available as a version-controlled file at http://code.google.com/p/neurological-disease-ontology along with a discussion list and an issue tracker.
ND seeks to provide a formal foundation for the representation of clinical and research data pertaining to neurological diseases. ND will enable its users to connect data in a robust way with related data that is annotated using other terminologies and ontologies in the biomedical domain.
我们正在开发神经疾病本体（ND），以提供一个框架，用于表示与神经疾病的治疗和研究相关的各个方面。ND是一种表示工具，满足了对与神经疾病治疗和研究相关的数据进行明确注释、存储和检索的需求。ND的开发符合开放生物医学本体铸造厂的原则，并基于通用医学科学本体（OGMS）所建立的范式，用于表示疾病和医学实践领域中的实体。ND的初始应用将包括对阿尔茨海默病、多发性硬化症和中风的大数据集及患者记录进行注释和分析。
ND以OWL 2实现，目前有450多个术语，用于指代和描述神经疾病的各个方面。ND直接导入OGMS的开发版本，该版本使用BFO 2。ND中的术语开发主要扩展了OGMS的术语“疾病”“诊断”“病程”和“病症”。我们从相关本体工作中导入并使用了700多个类，包括解剖学基础模型、生物医学研究本体和蛋白质本体。ND术语用本体元数据进行注释，如标签（术语名称）、术语编辑者、文本定义、定义来源、管理状态和替代术语（同义词）。除了这些注释外，许多术语还有逻辑定义。当前的开发重点是建立ND层次结构的上层结构，以及对阿尔茨海默病、多发性硬化症和中风的表示。该本体可在http://code.google.com/p/neurological-disease-ontology上作为版本受控文件获取，同时还有一个讨论列表和一个问题跟踪器。
ND旨在为表示与神经疾病相关的临床和研究数据提供一个正式基础。ND将使其用户能够以一种强大的方式将数据与生物医学领域中使用其他术语和本体进行注释的相关数据相连接。
