The Human Phenotype Ontology in 2024: phenotypes around the world

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., Baynam, G., Bello, S. M., Berk, M., Bertram, H., Bishop, S., Blau, H., Bodenstein, D. F., Botas, P., Boztug, K., … Robinson, P. N. (2023). The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Research, 52(D1), D1333–D1346. https://doi.org/10.1093/nar/gkad1005
Authors:
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 Čady
Tiffany 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
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
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
Affiliated Authors:
Tiffany J Callahan
Jessica Giordano
Ron Wapner
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Gene Therapy for Spinal Muscular Atrophy (OpenAlex Topic)
Biological Ontologies (MeSH)
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Publication Type:
Article
Unique ID:
10.1093/nar/gkad1005
PMID:
37953324
DOI:
10.1093/nar/gkad1005
Journal:
Nucleic Acids Research
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View OpenAlex Record

Record Created: