The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as
Human Phenotype Ontology (HPO) 是一个提供人类疾病表型异常标准化词汇的本体数据库。该数据库包含超过18,000个术语和156,000条对遗传疾病的注释，数据来源于医学文献、Orphanet、DECIPHER和OMIM。HPO是全球基因组与健康联盟(GA4GH)战略路线图中13个驱动项目的核心组成部分，为表型驱动的差异诊断、基因组诊断和转化研究提供支持。
