Human Phenotype Ontology

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 atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM.人类表型本体论（HPO）旨在提供一套标准化的术语表，用以描述人类疾病中遇到的表型异常。HPO中的每一个术语均详细描述了一种表型异常，例如心房间隔缺损。该本体论目前正基于医学文献、Orphanet、DECIPHER以及OMIM等资源进行开发。

搜集汇总

背景与挑战

背景概述

Human Phenotype Ontology (HPO) 是一个标准化的词汇表，用于描述人类疾病中的表型异常，包含超过18,000个术语和156,000个遗传疾病注释。它基于多源医学数据开发，并支持表型驱动的诊断和研究工具，是全球基因组学与健康联盟（GA4GH）战略项目的重要组成部分。