The Human Phenotype Ontology in 2024: phenotypes around the world
Authors: Gargano Michael A , Matentzoglu Nicolas , Coleman Ben , Addo-Lartey Eunice B , Anagnostopoulos Anna V , Anderton Joel , Avillach Paul , Bagley Anita M , Bakštein Eduard , Balhoff James P , Baynam Gareth , Bello Susan M , Berk Michael , Bertram Holli , Bishop Somer , Blau Hannah , Bodenstein David F , Botas Pablo , Boztug Kaan , Čady Jolana , Callahan Tiffany J , Cameron Rhiannon , Carbon Seth J , Castellanos Francisco , Caufield J Harry , Chan Lauren E , Chute Christopher G , Cruz-Rojo Jaime , Dahan-Oliel Noémi , Davids Jon R , de Dieuleveult Maud , de Souza Vinicius , de Vries Bert B A , de Vries Esther , DePaulo J Raymond , Derfalvi Beata , Dhombres Ferdinand , Diaz-Byrd Claudia , Dingemans Alexander J M , Donadille Bruno , Duyzend Michael , Elfeky Reem , Essaid Shahim , Fabrizzi Carolina , Fico Giovanna , Firth Helen V , Freudenberg-Hua Yun , Fullerton Janice M , Gabriel Davera L , Gilmour Kimberly , Giordano Jessica , Goes Fernando S , Moses Rachel Gore , Green Ian , Griese Matthias , Groza Tudor , Gu Weihong , Guthrie Julia , Gyori Benjamin , Hamosh Ada , Hanauer Marc , Hanušová Kateřina , He Yongqun (Oliver) , Hegde Harshad , Helbig Ingo , Holasová Kateřina , Hoyt Charles Tapley , Huang Shangzhi , Hurwitz Eric , Jacobsen Julius O B , Jiang Xiaofeng , Joseph Lisa , Keramatian Kamyar , King Bryan , Knoflach Katrin , Koolen David A , Kraus Megan L , Kroll Carlo , Kusters Maaike , Ladewig Markus S , Lagorce David , Lai Meng-Chuan , Lapunzina Pablo , Laraway Bryan , Lewis-Smith David , Li Xiarong , Lucano Caterina , Majd Marzieh , Marazita Mary L , Martinez-Glez Victor , McHenry Toby H , McInnis Melvin G , McMurry Julie A , Mihulová Michaela , Millett Caitlin E , Mitchell Philip B , Moslerová Veronika , Narutomi Kenji , Nematollahi Shahrzad , Nevado Julian , Nierenberg Andrew A , Čajbiková Nikola Novák , Nurnberger John I , Ogishima Soichi , Olson Daniel , Ortiz Abigail , Pachajoa Harry , Perez de Nanclares Guiomar , Peters Amy , Putman Tim , Rapp Christina K , Rath Ana , Reese Justin , Rekerle Lauren , Roberts Angharad M , Roy Suzy , Sanders Stephan J , Schuetz Catharina , Schulte Eva C , Schulze Thomas G , Schwarz Martin , Scott Katie , Seelow Dominik , Seitz Berthold , Shen Yiping , Similuk Morgan N , Simon Eric S , Singh Balwinder , Smedley Damian , Smith Cynthia L , Smolinsky Jake T , Sperry Sarah , Stafford Elizabeth , Stefancsik Ray , Steinhaus Robin , Strawbridge Rebecca , Sundaramurthi Jagadish Chandrabose , Talapova Polina , Tenorio Castano Jair A , Tesner Pavel , Thomas Rhys H , Thurm Audrey , Turnovec Marek , van Gijn Marielle E , Vasilevsky Nicole A , Vlčková Markéta , Walden Anita , Wang Kai , Wapner Ron , Ware James S , Wiafe Addo A , Wiafe Samuel A , Wiggins Lisa D , Williams Andrew E , Wu Chen , Wyrwoll Margot J , Xiong Hui , Yalin Nefize , Yamamoto Yasunori , Yatham Lakshmi N , Yocum Anastasia K , Young Allan H , Yüksel Zafer , Zandi Peter P , Zankl Andreas , Zarante Ignacio , Zvolský Miroslav , Toro Sabrina , Carmody Leigh C , Harris Nomi L , Munoz-Torres Monica C , Danis Daniel , Mungall Christopher J , Köhler Sebastian , Haendel Melissa A , Robinson Peter N 
Published: November 2023

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.