Human Disease Ontology 2018 update: classification, content and workflow expansion

ABSTRACT:

The Human Disease Ontology (DO) (http://www.disease-ontology.org), database has undergone significant expansion in the past three years. The DO disease classification includes specific formal semantic rules to express meaningful disease models and has expanded from a single asserted classification to include multiple-inferred mechanistic disease classifications, thus providing novel perspectives on related diseases. Expansion of disease terms, alternative anatomy, cell type and genetic disease classifications and workflow automation highlight the updates for the DO since 2015. The enhanced breadth and depth of the DO's knowledgebase has expanded the DO's utility for exploring the multi-etiology of human disease, thus improving the capture and communication of health-related data across biomedical databases, bioinformatics tools, genomic and cancer resources and demonstrated by a 6.6× growth in DO's user community since 2015. The DO's continual integration of human disease knowledge, evidenced by the more than 200 SVN/GitHub releases/revisions, since previously reported in our DO 2015 NAR paper, includes the addition of 2650 new disease terms, a 30% increase of textual definitions, and an expanding suite of disease classification hierarchies constructed through defined logical axioms.

Instructions:

Data was cleaned. Duplicates and unnecessary columns were removed. Title of columns were changed.

Inspiration:

This dataset uploaded to U-BRITE for  "DRG_DEPOT" summer 2023 team project.

Acknowledgements:

Schriml, L. M., Mitraka, E., Munro, J., Tauber, B., Schor, M., Nickle, L., Felix, V., Jeng, L., Bearer, C., Lichenstein, R., Bisordi, K., Campion, N., Hyman, B., Kurland, D., Oates, C. P., Kibbey, S., Sreekumar, P., Le, C., Giglio, M., & Greene, C. 

Human Disease Ontology 2018 update: classification, content and workflow expansion

Nucleic Acids Research 2019; 47(D1), D955–D962;PMID:30407550;DOI:https://doi.org/10.1093/nar/gky1032

U-BRITE last update data: 06/28/2023

ABSTRACT:
人类疾病本体（Human Disease Ontology, DO，网址：http://www.disease-ontology.org）数据库在过去三年间实现了大幅扩容。DO疾病分类体系包含用于构建有效疾病模型的特定形式化语义规则，现已从单一的断言式分类扩展至多推理机制性疾病分类，为相关疾病研究提供了全新视角。自2015年以来，DO的更新亮点包括疾病术语扩容、新增解剖学与细胞类型替代分类体系、遗传疾病分类优化以及工作流自动化功能。DO知识库在广度与深度上的提升，拓展了其在探究人类疾病多病因机制方面的应用价值，优化了生物医学数据库、生物信息学工具、基因组学与癌症研究资源中健康相关数据的获取与传播效率；自2015年以来，DO用户群体规模实现了6.6倍的增长，这一数据也印证了DO的发展成效。自此前在《Nucleic Acids Research》2015年发表的DO相关论文以来，DO通过200余次SVN/GitHub版本发布与修订实现了人类疾病知识的持续整合，具体包括新增2650个疾病术语、文本定义量提升30%，以及通过预设逻辑公理构建的疾病分类层级体系持续扩容。

Instructions:
已完成数据清洗工作，移除了重复数据与无关列，并对列标题进行了规范化调整。

Inspiration:
本数据集上传至U-BRITE平台，用于2023年夏季"DRG_DEPOT"团队项目。

Acknowledgements:
本研究成果源自论文《Human Disease Ontology 2018 update: classification, content and workflow expansion》，发表于《Nucleic Acids Research》2019年；47(D1): D955–D962；PMID:30407550；DOI:https://doi.org/10.1093/nar/gky1032。作者包括：Schrimm, L. M.、Mitraka, E.、Munro, J.、Tauber, B.、Schor, M.、Nickle, L.、Felix, V.、Jeng, L.、Bearer, C.、Lichenstein, R.、Bisordi, K.、Campion, N.、Hyman, B.、Kurland, D.、Oates, C. P.、Kibbey, S.、Sreekumar, P.、Le, C.、Giglio, M. 及 Greene, C.。
U-BRITE最后更新日期：2023年6月28日。