Ninomiya Kota, Takatsuki Terue, Kushida Tatsuya, Yamamoto Yasunori, Ogishima Soichi
National Institute of Public Health, Wako 351-0197, Japan.
Social Cooperation Program of IT Healthcare, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo 113-0033, Japan.
Genomics Inform. 2020 Jun;18(2):e23. doi: 10.5808/GI.2020.18.2.e23. Epub 2020 Jun 18.
The Human Phenotype Ontology (HPO) is the de facto standard ontology to describe human phenotypes in detail, and it is actively used, particularly in the field of rare disease diagnoses. For clinicians who are not fluent in English, the HPO has been translated into many languages, and there have been four initiatives to develop Japanese translations. At the Biomedical Linked Annotation Hackathon 6 (BLAH6), a rule-based approach was attempted to determine the preferable Japanese translation for each HPO term among the candidates developed by the four approaches. The relationship between the HPO and Mammalian Phenotype translations was also investigated, with the eventual goal of harmonizing the two translations to facilitate phenotype-based comparisons of species in Japanese through cross-species phenotype matching. In order to deal with the increase in the number of HPO terms and the need for manual curation, it would be useful to have a dictionary containing word-by-word correspondences and fixed translation phrases for English word order. These considerations seem applicable to HPO localization into other languages.
人类表型本体论（HPO）是详细描述人类表型的事实上的标准本体论，并且被积极使用，尤其是在罕见病诊断领域。对于英语不流利的临床医生，HPO已被翻译成多种语言，并且已经有四项开发日语翻译的举措。在生物医学关联注释黑客马拉松6（BLAH6）中，尝试了一种基于规则的方法，以在四种方法开发的候选词中确定每个HPO术语的首选日语翻译。还研究了HPO与哺乳动物表型翻译之间的关系，最终目标是协调这两种翻译，以便通过跨物种表型匹配促进日语中基于表型的物种比较。为了应对HPO术语数量的增加和人工编目的需求，拥有一本包含逐字对应和英语单词顺序固定翻译短语的词典将很有用。这些考虑似乎适用于HPO本地化到其他语言。
