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Development of the HPO is funded by the NIH/NGHRI [5U24HG011449-03]; the French translation of the HPO is carried out by Orphanet INSERM US 14 (Paris, France) funded by the French Ministry of Health, Direction Generale de la Sante, in the framework of the French National Plan for Rare Diseases; support for the EHR work is funded by NIH NHGRI [7RM1HG010860-02]; NIH/NCATS [NCATS U24 TR002306]; NIH Office of the Director [5R24OD011883-11]; Solve-RD [Horizon 2020, 779257]; Defense Advanced Research Projects Agency (DARPA) Young Faculty Award [W911NF-20-1-0255]; DARPA Automating Scientific Knowledge Extraction and Modeling program [HR00112220036]; Berlin Institute of Health [CADS]; Wellcome Trust [203914/Z/16/Z]; Angela Wright Bennett Foundation, the McCusker Charitable Foundation via Channel 7 Telethon Trusts, the Stan Perron Charitable Foundation and Mineral Resources; NIH [Kids -First]; German Research Foundation fellowship [DFG, award WY 215/1-1]; NLM [T15LM009451NLM T15LM007079]; Canadian Institutes of Health Research Sex and Gender Science Chair [GSB 171373]; C.J.M., N.L.H., J.R., H.H., J.H.C., S.J.C. were supported in part by the Director, Office of Science, Office of Basic Energy Sciences, of the U.S. Department of Energy [DE-AC02-05CH11231]; NIMH [U24 MH068457]; NICHD [R01HD105266]; NIH/NIDCR [R03-DE032062]; NIH [K08AG054727]; NLM [T15LM009451]; NLM [T15LM007079]; Prechter Bipolar Research Program; Defense Advanced Research Projects Agency (DARPA) Young Faculty Award [W911NF-20-1-0255]; DARPA Automating Scientific Knowledge Extraction and Modeling program [HR00112220036]; Canadian Institutes of Health Research Sex and Gender Science Chair [GSB 171373]; Un-restricted research grant Takeda [IIR-NLD-BXLT-001964-BT15-28983]; Australian Government Medical Research Future Fund [MRF1200428 to J.M.F.]; Medical Research Council (UK), British Heart Foundation [RE/18/4/34215]; NIHR Imperial College Biomedical Research Centre, Sir Jules Thorn Charitable Trust [21JTA]; Wellcome Trust [200990/A/16/Z]; Wellcome Trust [203914/Z/16/Z]; Critical Path Institute; Canadian Institutes of Health Research [187519]; McCusker Charitable Foundation via Channel 7 Telethon Trusts; the Stan Perron Charitable Foundation and Mineral Resources; the European Union's EIT-Health Innovation Program (SUOG-Smart Ultrasound in Obstetrics and Gynecology; 820074/H2020 European Research Council; Czech Ministry of Health [NU22-04-00143]; British Heart Foundation [FS/CRLF/21/23011]. funding for open access charge: NHGRI [5U24HG011449-03].

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The Human Phenotype Ontology in 2024: phenotypes around the world

Publicat a:Nucleic Acids Research. 52 (D1): D1333-D1346 - 2024-01-05 52(D1), DOI: 10.1093/nar/gkad1005

Autors: Gargano, Michael A; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B; Anagnostopoulos, Anna V; Anderton, Joel; Avillach, Paul; Bagley, Anita M; Bakstein, Eduard; Balhoff, James P; Baynam, Gareth; Bello, Susan M; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F; Botas, Pablo; Boztug, Kaan; Cady, 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, Noemi; 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; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; 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; Mihulova, Michaela; Millett, Caitlin E; Mitchell, Philip B; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A; Cajbikova, Nikola Novak; Nurnberger, John I, Jr; 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; Vlckova, Marketa; 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; Yueksel, Zafer; Zandi, Peter P; Zankl, Andreas; Zarante, Ignacio; Zvolsk, Miroslav; Toro, Sabrina; Carmody, Leigh C; Harris, Nomi L; Munoz-Torres, Monica C; Danis, Daniel; Mungall, Christopher J; Koehler, Sebastian; Haendel, Melissa A; Robinson, Peter N

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Resum

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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