The Human Phenotype Ontology in 2024: phenotypes around the world
Published version
Peer-reviewed
Repository URI
Repository DOI
Type
Change log
Authors
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 addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.
Description
Funder: French Ministry of Health
Funder: Angela Wright Bennett Foundation; DOI: https://doi.org/10.13039/501100020544
Funder: McCusker Charitable Foundation; DOI: https://doi.org/10.13039/100014834
Funder: Channel 7 Telethon Trusts
Funder: the Stan Perron Charitable Foundation and Mineral Resources
Funder: Prechter Bipolar Research Program
Keywords
Journal Title
Conference Name
Journal ISSN
1362-4962
Volume Title
Publisher
Publisher DOI
Sponsorship
NHGRI (7RM1HG010860-02)
NCATS (NCATS U24 TR002306)
Horizon 2020 (779257)
Defense Advanced Research Projects Agency (W911NF-20-1-0255)
DARPA Automating Scientific Knowledge Extraction and Modeling program (HR00112220036)
Berlin Institute of Health (CADS)
Wellcome Trust (203914/Z/16/Z)
German Research Foundation (WY 215/1-1)
NLM (T15LM009451, NLM T15LM007079)
Canadian Institutes of Health Research Sex and Gender Science Chair (GSB 171373)
U.S. Department of Energy (DE-AC02-05CH11231)
NIMH (U24 MH068457)
NICHD (R01HD105266)
NIDCR (R03-DE032062)