The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
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医疗行动本体论：用于注释和分析人类疾病的治疗和临床管理的工具。
DOI：
10.1016/j.medj.2023.10.003
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Carmody LC
中科院分区：
文献类型：
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作者：
Carmody LC
背景浏览临床文献以确定罕见病的最佳临床管理是一项重大挑战。我们介绍的医疗行动本体（MAxO），专门设计的本体，以组织医疗程序，疗法，和interventions.MethodsMAxO采用逻辑结构，MAxO条款链接到众多其他本体内的OBO铸造。术语开发涉及手动和半自动化过程的混合。此外，我们还生成了注释，详细说明了人类表型本体论（HPO）定义的特定表型异常的诊断方式。我们介绍了一个Web应用程序，POET，促进MAxO注释的具体医疗行动的疾病使用Mondo疾病Ontology.FindingsMAxO包括1,757个术语跨越广泛的生物医学领域，从人体解剖学和调查的化学和蛋白质实体参与生物过程。这些术语注释了与特定疾病相关的表型特征（使用HPO和Mondo）。目前，有超过16，000个针对HPO术语的MAxO诊断注释。通过POET，我们已经创建了413 MAxO注释指定治疗189罕见diseases.ConclusionsMAxO提供了一个计算表示的治疗和其他行动的患者的临床管理。它的发展与Mondo和HPO密切相关，扩大了我们对疾病和表型特征的计算建模的范围。我们邀请社区使用POET（https：//poet.jax.org/）提供疾病注释。MAxO在开源CC-BY 4.0许可证下可用（https：//github.com/monarch-initiative/MAxO）。基金NHGRI 1U 24 HG 011449 - 01 A1和NHGRI 5 RM 1HG 010860 -04。
BackgroundNavigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize medical procedures, therapies, and interventions.MethodsMAxO incorporates logical structures that link MAxO terms to numerous other ontologies within the OBO Foundry. Term development involves a blend of manual and semi-automated processes. Additionally, we have generated annotations detailing diagnostic modalities for specific phenotypic abnormalities defined by the Human Phenotype Ontology (HPO). We introduce a web application, POET, that facilitates MAxO annotations for specific medical actions for diseases using the Mondo Disease Ontology.FindingsMAxO encompasses 1,757 terms spanning a wide range of biomedical domains, from human anatomy and investigations to the chemical and protein entities involved in biological processes. These terms annotate phenotypic features associated with specific disease (using HPO and Mondo). Presently, there are over 16,000 MAxO diagnostic annotations that target HPO terms. Through POET, we have created 413 MAxO annotations specifying treatments for 189 rare diseases.ConclusionsMAxO offers a computational representation of treatments and other actions taken for the clinical management of patients. Its development is closely coupled to Mondo and HPO, broadening the scope of our computational modeling of diseases and phenotypic features. We invite the community to contribute disease annotations using POET (https://poet.jax.org/). MAxO is available under the open-source CC-BY 4.0 license (https://github.com/monarch-initiative/MAxO).FundingNHGRI 1U24HG011449-01A1 and NHGRI 5RM1HG010860-04.