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The Human Phenotype Ontology in 2024: phenotypes around the world

Published version
Peer-reviewed

Repository DOI


Change log

Authors

Matentzoglu, Nicolas  ORCID logo  https://orcid.org/0000-0002-7356-1779
Addo-Lartey, Eunice B 
Anagnostopoulos, Anna V  ORCID logo  https://orcid.org/0000-0002-6490-7723

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

Nucleic Acids Research

Conference Name

Journal ISSN

0305-1048
1362-4962

Volume Title

52

Publisher

Oxford University Press
Sponsorship
NIH (5U24HG011449-03, 5R24OD011883-11, K08AG054727)
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)