The Human Phenotype Ontology in 2024: phenotypes around the world

Michael A. Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B. Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M. 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 Boztug, Jolana ČadyTiffany J. Callahan, Rhiannon Cameron, Seth J. Carbon, Francisco Castellanos, J. Harry Caufield, Lauren E. Chan, Christopher G. Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R. Davids, Maudde Dieuleveult, Viniciusde Souza, Bert B.A. de Vries, Estherde Vries, J. Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J.M. Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V. Firth, Yun Freudenberg-Hua, Janice M. Fullerton, Davera L. Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S. Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin 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 Martinez-Glez, Toby H. McHenry, Melvin G. McInnis, Julie A. McMurry, Michaela Mihulová, Caitlin E. Millett, Philip B. Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A. Nierenberg, Nikola Novák Čajbiková, John I. Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perezde Nanclares, Amy Peters, Tim Putman, Christina K. Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M. Roberts, Suzy Roy, Stephan J. Sanders, Catharina Schuetz, Eva C. Schulte, Thomas G. Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N. Similuk, Eric S. Simon, Balwinder Singh, Damian Smedley, Cynthia L. Smith, Jake T. Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A.Tenorio Castano, Pavel Tesner, Rhys H. Thomas, Audrey Thurm, Marek Turnovec, Marielle E. van Gijn, Nicole A. Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S. Ware, Addo A. Wiafe, Samuel A. Wiafe, Lisa D. Wiggins, Andrew E. Williams, Chen Wu, Margot J. Wyrwoll, Hui Xiong, Nefize Yalin, 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 C. Carmody, Nomi L. Harris, Monica C. Munoz-Torres, Daniel Danis, Christopher J. Mungall, Sebastian Köhler, Melissa A. Haendel, Peter N. Robinson*

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    5 Citaten (Scopus)
    16 Downloads (Pure)

    Samenvatting

    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.

    Originele taal-2English
    Pagina's (van-tot)D1333-D1346
    Aantal pagina's14
    TijdschriftNucleic Acids Research
    Volume52
    Nummer van het tijdschriftD1
    DOI's
    StatusPublished - 5-jan.-2024

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