Human Phenotype Ontology
收藏知名数据库2026-06-26 收录
下载链接：
https://hpo.jax.org/
下载链接
链接失效反馈官方服务：
资源简介：
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。
The Human Phenotype Ontology (HPO) is an ontology database that provides standardized vocabularies for phenotypic abnormalities in human diseases. It encompasses more than 18,000 terms and 156,000 annotations for genetic disorders, with its data curated from medical literature, Orphanet, DECIPHER, and OMIM. HPO serves as a core component of the 13 driver projects included in the strategic roadmap of the Global Alliance for Genomics and Health (GA4GH), and it supports phenotype-driven differential diagnosis, genomic diagnostics, and translational research.
提供机构：
Jackson Laboratory
