Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Sebastian Köhler
Leigh Carmody, The Jackson Laboratory
Nicole Vasilevsky
Julius O B Jacobsen
Daniel Danis, The Jackson Laboratory
Jean-Philippe Gourdine
Michael Gargano, The Jackson Laboratory
Nomi L Harris
Nicolas Matentzoglu
Julie A McMurry
David Osumi-Sutherland
Valentina Cipriani
James P Balhoff
Tom Conlin
Hannah Blau, The Jackson Laboratory
Gareth Baynam
Richard Palmer
Dylan Gratian
Hugh Dawkins
Michael Segal
Anna C Jansen
Ahmed Muaz
Willie H Chang
Jenna Bergerson
Stanley J F Laulederkind
Zafer Yüksel
Sergi Beltran
Alexandra F Freeman
Panagiotis I Sergouniotis
Daniel Durkin, The Jackson Laboratory
Andrea L Storm
Marc Hanauer
Michael Brudno
Susan M. Bello, The Jackson Laboratory
Murat Sincan
Kayli Rageth
Matthew T Wheeler
Renske Oegema
Halima Lourghi
Maria G Della Rocca
Rachel Thompson
Francisco Castellanos, The Jackson Laboratory
James Priest
Charlotte Cunningham-Rundles
Ayushi Hegde
Ruth C Lovering
Catherine Hajek
Annie Olry
Luigi Notarangelo
Morgan Similuk
Xingmin A Zhang
David Gómez-Andrés
Hanns Lochmüller
Hélène Dollfus
Sergio Rosenzweig
Shruti Marwaha
Ana Rath
Kathleen Sullivan
Cynthia Smith, The Jackson Laboratory
Joshua D Milner
Dorothée Leroux
Cornelius F Boerkoel
Amy Klion
Melody C Carter
Tudor Groza
Damian Smedley
Melissa A Haendel
Chris Mungall
Peter N Robinson, The Jackson Laboratory


The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.