Genomics Inform.  2020 Jun;18(2):e23. 10.5808/GI.2020.18.2.e23.

Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology

• Ninomiya K
• Takatsuki T
• Kushida T
• Yamamoto Y
• Ogishima S

• KMID: 2503648
• DOI: http://doi.org/10.5808/GI.2020.18.2.e23

Abstract

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.

Keyword

biological ontologies; natural language processing; phenotype; rare diseases; translations