Ada Health GmbH, Berlin, Germany.
Monarch Initiative.
Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043.
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.
人类表型本体 (HPO,https://hpo.jax.org) 于 2008 年推出,旨在提供一个全面的逻辑标准,用于描述和计算分析人类疾病中发现的表型异常。HPO 现在是全球表型交换的标准。自成立以来,由于来自不同学科的临床专家和研究人员的大量贡献,HPO 一直在稳步发展。在这里,我们介绍了 HPO 在神经病学、肾脏病学、免疫学、肺病学、新生儿筛查和其他领域的最新重大扩展。例如,现在的癫痫发作子本体反映了国际抗癫痫联盟 (ILAE) 的指南,这些增强功能已经显示出临床有效性。我们正在努力协调 HPO 以及用于疾病动物模型的多个表型本体之间的表型异常的计算定义。这些努力将使 Exomiser 等软件受益,从而提高跨物种表型匹配的准确性和范围。HPO 用于定义疾病实体和表型特征并区分它们的计算建模策略有详细说明。我们还报告了将 HPO 翻译成本土语言的最新努力。最后,我们总结了 HPO 在电子健康记录系统中的最新应用进展。