articleNucleic Acids ResearchNov 11, 2023GOLD OA

The Human Phenotype Ontology in 2024: phenotypes around the world

Jackson Laboratory · Ghana Health Service · +96 more institutions

PubMed
Indexed incrossrefdoajpubmed

Abstract

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in…

Citation impact

357
total citations
FWCI
104.11
Percentile
100%
References
56
Citations per year

Authors

176

Topics & keywords

Keywords
  • Ontology
  • Clinical phenotype
  • Biology
  • Inference
  • Phenotype
  • Data science
  • Disease
  • Analytics
UN Sustainable Development Goals
  • Partnerships for the goals
No related works found for this paper.

Funding