The Human Phenotype Ontology in 2024: phenotypes around the world
Michael Gargano(Jackson Laboratory), Nicolas Matentzoglu, Ben Coleman(Jackson Laboratory), Eunice B Addo-Lartey(Ghana Health Service), Anna V. Anagnostopoulos(Jackson Laboratory), Joel Anderton(University of Pittsburgh), Paul Avillach(Harvard University), Anita Bagley(Shriners Hospitals for Children - Northern California), Eduard Bakštein(National Institute of Mental Health), James P. Balhoff(Renaissance Computing Institute), Gareth Baynam(Princess Margaret Hospital for Children), Susan M. Bello(Jackson Laboratory), Michael Berk(Barwon Health), Holli Bertram(University of Michigan), Somer Bishop, Hannah Blau(Jackson Laboratory), David F. Bodenstein(University of Toronto), Pablo Botas, Kaan Boztuǧ(St Anna Children's Hospital), J Cady(Institute of Health Information and Statistics), Tiffany J. Callahan(Columbia University Irving Medical Center), Rhiannon Cameron(Simon Fraser University), Seth Carbon(Lawrence Berkeley National Laboratory), F Castellanos(Jackson Laboratory), J. Harry Caufield(Lawrence Berkeley National Laboratory), Lauren Chan(Oregon State University), Christopher G. Chute(Johns Hopkins University), Jaime Cruz-Rojo(Research Institute Hospital 12 de Octubre), Noémi Dahan‐Oliel(Shriners Hospitals for Children - Canada), Jon R. Davids(Shriners Hospitals for Children - Northern California), Maud de Dieuleveult(Assistance Publique – Hôpitaux de Paris), Vinícius de Souza(European Bioinformatics Institute), Bert B.A. de Vries(Radboud University Nijmegen), Esther de Vries(Tilburg University), J. Raymond DePaulo(Johns Hopkins University), Beáta Dérfalvi(Dalhousie University), Ferdinand Dhombres(Inserm), Claudia Diaz‐Byrd(University of Michigan), Alexander J.M. Dingemans(Radboud University Nijmegen), Bruno Donadille(Inserm), Michael Duyzend(Massachusetts General Hospital), Reem Elfeky(Great Ormond Street Hospital for Children NHS Foundation Trust), Shahim Essaid(University of Colorado Anschutz Medical Campus), Carolina Fabrizzi(Inserm), Giovanna Fico(Universitat de Barcelona), Helen V. Firth(University of Cambridge), Yun Freudenberg‐Hua(Northwell Health), Janice M. Fullerton(Neuroscience Research Australia), Davera Gabriel(Johns Hopkins University), Kimberly Gilmour(Great Ormond Street Hospital), Jessica L. Giordano(Columbia University Irving Medical Center), Fernando S. Goes(Johns Hopkins University), Rachel Gore Moses(National Institutes of Health), Ian Green, Matthias Griese(German Center for Lung Research), Tudor Groza(Princess Margaret Hospital for Children), Weihong Gu, Julia Guthrie(University of Vienna), Benjamin M. Gyori(Northeastern University), Ada Hamosh(Johns Hopkins University), Marc Hanauer(Inserm), Kateřina Hanušová(Institute of Health Information and Statistics), Yongqun He(University of Michigan), Harshad Hegde(Lawrence Berkeley National Laboratory), Ingo Helbig(Children's Hospital of Philadelphia), Kateřina Holasová(Institute of Health Information and Statistics), Charles Tapley Hoyt(Northeastern University), Shangzhi Huang, Eric Hurwitz(University of Colorado Anschutz Medical Campus), Julius O.B. Jacobsen(Queen Mary University of London), Xiaofeng Jiang, Lisa Joseph(National Institute of Mental Health), Kamyar Keramatian(University of British Columbia), Bryan King, Katrin Knoflach(German Center for Lung Research), David A. Koolen(Radboud University Nijmegen), Megan L Kraus(University of Colorado Anschutz Medical Campus), Carlo Kroll(Queen Mary University of London), Maaike Kusters(Great Ormond Street Hospital), Markus S. Ladewig, David Lagorce(Inserm), Meng‐Chuan Lai(Centre for Addiction and Mental Health), Pablo Lapunzina(Hospital Universitario La Paz), Bryan Laraway(University of Colorado Anschutz Medical Campus), David Lewis‐Smith(Newcastle University), Xiarong Li, Caterina Lucano(Inserm), Marzieh Majd(Brigham and Women's Hospital), Mary L. Marazita(University of Pittsburgh), Víctor Martínez‐Glez(Corporació Sanitària Parc Taulí), Toby H McHenry(University of Pittsburgh), Melvin G. McInnis(University of Michigan), Julie A. McMurry(University of Colorado Anschutz Medical Campus), Michaela Mihulová(Charles University), Caitlin E. Millett(Northwell Health), Philip B. Mitchell(UNSW Sydney), Veronika Moslerová(Charles University), Kenji Narutomi(Children's Medical Center), Shahrzad Nematollahi(McGill University), Julián Nevado(Hospital Universitario La Paz), Andrew A. Nierenberg(Massachusetts General Hospital), Nikola Novák Čajbiková(Charles University), John I. Nürnberger(Indiana University School of Medicine), Soichi Ogishima(Tohoku University), Daniel Olson(Critical Path Institute), Abigail Ortiz(University of Toronto), Harry Pachajoa(Icesi University), Guiomar Pérez de Nanclares(Hospital Universitario Araba), Amy T. Peters(Massachusetts General Hospital), Tim Putman(University of Colorado Anschutz Medical Campus), Christina Rapp(German Center for Lung Research), Ana Rath(Inserm), Justin Reese(Lawrence Berkeley National Laboratory), Lauren Rekerle(Jackson Laboratory), Angharad M. Roberts(MRC London Institute of Medical Sciences), Suzy Roy, Stephan Sanders(University of Oxford), Catharina Schuetz(University Hospital Carl Gustav Carus), Eva C. Schulte(Ludwig-Maximilians-Universität München), Thomas G. Schulze(SUNY Upstate Medical University), Martin Schwarz(Charles University), Katie Scott(Dalhousie University), Dominik Seelow(Berlin Institute of Health at Charité - Universitätsmedizin Berlin), Berthold Seitz(Saarland University), Yiping Shen, Morgan Similuk(National Institutes of Health), Eric S. Simon(University of Michigan), Balwinder Singh(Mayo Clinic), Damian Smedley(Queen Mary University of London), Cynthia L. Smith(Jackson Laboratory), Jake T Smolinsky(Rutgers, The State University of New Jersey), Sarah H. Sperry(University of Michigan), Elizabeth Stafford(National Alliance on Mental Illness), Ray Stefancsik(European Bioinformatics Institute), Robin Steinhaus(Berlin Institute of Health at Charité - Universitätsmedizin Berlin), Rebecca Strawbridge(King's College London), Jagadish Chandrabose Sundaramurthi(Jackson Laboratory), Polina Talapova(Tufts University), Jair Tenorio(Hospital Universitario La Paz), Pavel Tesner(Charles University), Rhys H. Thomas(Newcastle University), Audrey Thurm(National Institute of Mental Health), Marek Turnovec(Charles University), Mariëlle van Gijn(University Medical Center Groningen), Nicole Vasilevsky(Critical Path Institute), Markéta Vlčková(Charles University), Anita Walden(University of Colorado Anschutz Medical Campus), Kai Wang, Ronald J. Wapner(Columbia University Irving Medical Center), James S. Ware(MRC London Institute of Medical Sciences), Addo A Wiafe(Ghana Health Service), Samuel Agyei Wiafe(Ghana Health Service), Lisa D. Wiggins(Centers for Disease Control and Prevention), Andrew E. Williams(Tufts University), Chen Wu, Margot J. Wyrwoll(MRC Centre for Regenerative Medicine), Hui Xiong, Nefize Yalın(King's College London), Yasunori Yamamoto(Research Organization of Information and Systems), Lakshmi N. Yatham(University of British Columbia), Anastasia K. Yocum(University of Michigan), Allan H. Young(King's College London), Zafer Yüksel, Peter P. Zandi(Johns Hopkins University), Andreas Zankl(The University of Sydney), Ignacio Zarante(Pontificia Universidad Javeriana), Miroslav Zvolský(Institute of Health Information and Statistics), Sabrina Toro(University of Colorado Anschutz Medical Campus), Leigh Carmody(Jackson Laboratory), Nomi L. Harris(Lawrence Berkeley National Laboratory), Mónica Muñoz-Torres(University of Colorado Anschutz Medical Campus), Daniel Daniš(Jackson Laboratory), Chris Mungall(Lawrence Berkeley National Laboratory), Sebastian Köhler, Melissa Haendel(University of Colorado Anschutz Medical Campus), Peter N. Robinson(Jackson Laboratory)
Cited by 358Open Access
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.
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