The Human Phenotype Ontology in 2024: phenotypes around the world.
Michael Gargano, The Jackson Laboratory
Nicolas Matentzoglu
Ben D Coleman, The Jackson Laboratory
Eunice B Addo-Lartey
Anna V Anagnostopoulos, The Jackson Laboratory
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, The Jackson Laboratory
David F Bodenstein
Pablo Botas
Kaan Boztug
Jolana Čady
Tiffany J Callahan
Rhiannon Cameron
Seth J Carbon
Francisco Castellanos, The Jackson Laboratory
J Harry Caufield
Lauren E Chan
Christopher G Chute
Jaime Cruz-Rojo
Noémi Dahan-Oliel
Jon R Davids
Maud de Dieuleveult
Vinicius de Souza
Bert B A de Vries
Esther de 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 Oliver 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 Perez de Nanclares
Amy Peters
Tim Putman
Christina K Rapp
Ana Rath
Justin Reese
Lauren Rekerle, The Jackson Laboratory
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 Smith, The Jackson Laboratory
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 Carmody, The Jackson Laboratory
Nomi L Harris
Monica C Munoz-Torres
Daniel Danis
Christopher J Mungall
Sebastian Köhler
Melissa A Haendel
Peter N Robinson, The Jackson Laboratory
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
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.