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The Human Phenotype Ontology in 2024: phenotypes around the world

2023; Oxford University Press; Volume: 52; Issue: D1 Linguagem: Inglês

10.1093/nar/gkad1005

1362-4962

Michael Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton, Paul Avillach, Anita Bagley, Eduard Bakštein, James P. Balhoff, Gareth Baynam, Susan M. Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F. Bodenstein, Pablo Botas, Kaan Boztuğ, J Cady, Tiffany J Callahan, Rhiannon Cameron, Seth Carbon, F Castellanos, J. Harry Caufield, Lauren Chan, Christopher G. Chute, Jaime Cruz‐Rojo, Noémi Dahan‐Oliel, Jon R. Davids, Maud de Dieuleveult, Vinícius de Souza, Bert B.A. de Vries, Esther de Vries, J. Raymond DePaulo, Beáta Dérfalvi, Ferdinand Dhombres, Claudia Diaz‐Byrd, Alexander J.M. Dingemans, Bruno Donadille, Michael H. Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V. Firth, Yun Freudenberg‐Hua, Janice M. Fullerton, Davera Gabriel, Kimberly Gilmour, Jessica L. Giordano, Fernando S. Goes, Rachel Gore, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin M. Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O.B. Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A. Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S. Ladewig, David Lagorce, Meng‐Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis‐Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L. Marazita, Victor Martínez‐Glez, Toby H McHenry, Melvin G. McInnis, Julie A. McMurry, Michaela Mihulová, Caitlin E. Millett, Philip B. Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A. Nierenberg, Nikola Novák Čajbiková, John I. Nürnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Pérez de Nanclares, Amy T. Peters, Tim Putman, Christina Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M. Roberts, Suzy Roy, Stephan Sanders, Catharina Schuetz, Eva C. Schulte, Thomas G. Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan Similuk, Eric S. Simon, Balwinder Singh, Damian Smedley, Cynthia L. Smith, Jake T Smolinsky, Sarah H. Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair Tenorio, Pavel Tesner, Rhys H. Thomas, Audrey Thurm, Marek Turnovec, Mariëlle van Gijn, Nicole Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J. Wapner, James S. Ware, Addo A Wiafe, Samuel Agyei Wiafe, Lisa D. Wiggins, Andrew E. Williams, Chen Wu, Margot J. Wyrwoll, Hui Xiong, Nefize Yalın, Yasunori Yamamoto, Lakshmi N. Yatham, Anastasia K. Yocum, Allan H. Young, Zafer Yüksel, Peter P. Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh Carmody, Nomi L. Harris, Monica Muñoz‐Torres, Daniel Daniš, Chris Mungall, Sebastian Köhler, Melissa Haendel, Peter N. Robinson,

Neurogenetic and Muscular Disorders Research

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.