The Human Phenotype Ontology in 2024: phenotypes around the world.
Journal
Nucleic acids research
ISSN: 1362-4962
Titre abrégé: Nucleic Acids Res
Pays: England
ID NLM: 0411011
Informations de publication
Date de publication:
05 Jan 2024
05 Jan 2024
Historique:
accepted:
19
10
2023
revised:
12
10
2023
received:
13
09
2023
medline:
8
1
2024
pubmed:
13
11
2023
entrez:
12
11
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37953324
pii: 7416384
doi: 10.1093/nar/gkad1005
pmc: PMC10767975
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
D1333-D1346Subventions
Organisme : NLM NIH HHS
ID : T15 LM007079
Pays : United States
Organisme : NCATS NIH HHS
ID : NCATS U24 TR002306
Pays : United States
Organisme : NHGRI NIH HHS
ID : 7RM1HG010860-02
Pays : United States
Organisme : NIDCR NIH HHS
ID : R03 DE032062
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : RM1 HG010860
Pays : United States
Organisme : NLM NIH HHS
ID : T15LM009451
Pays : United States
Organisme : Wellcome Trust
ID : 203914/Z/16/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UP_1102/20
Pays : United Kingdom
Organisme : NICHD NIH HHS
ID : R01HD105266
Pays : United States
Organisme : British Heart Foundation
ID : FS/CRLF/21/23011
Pays : United Kingdom
Organisme : NIDCR NIH HHS
ID : R03-DE032062
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD105266
Pays : United States
Organisme : NIMH NIH HHS
ID : U24 MH068457
Pays : United States
Organisme : NCATS NIH HHS
ID : U24 TR002306
Pays : United States
Organisme : NIA NIH HHS
ID : K08 AG054727
Pays : United States
Organisme : NIH HHS
ID : 5U24HG011449-03
Pays : United States
Informations de copyright
© The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research.
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