Human Phenotype Ontology: Standardized Framework Cataloging Comprehensive Phenotypic Information

ABSTRACT:

The Human Phenotype Ontology (HPO) is a standardized and comprehensive framework that catalogs and organizes phenotypic information related to human diseases and genetic disorders. It provides a structured vocabulary of terms to describe observable traits and abnormalities associated with various medical conditions. This dataset showcases the Human Phenotype Ontology (HPO) by including HPO IDs, names, descriptions, and additional references. The HPO IDs serve as unique identifiers for specific phenotypes. The names provide concise labels for the phenotypic traits, while the descriptions offer detailed explanations of their characteristics. In addition to the essential information, the dataset includes references that further describe and support the understanding of diverse phenotypes. These references can be used to explore the scientific literature, studies, or clinical resources associated with each phenotype. By combining HPO IDs, names, descriptions, and references, the dataset offers a comprehensive overview of different phenotypes, facilitating research, diagnostics, and the exploration of genotype-phenotype relationships.

Instructions:

The data was downloaded as an .obo file then converted to a .csv file. Unrelated columns were removed and a references column was added. 

Acknowledgements:

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis-Smith, Nicole A Vasilevsky, Daniel Danis, Ganna Balagura, Gareth Baynam, Amy M Brower, 

Tiffany J Callahan, Christopher G Chute, Johanna L Est, Peter D Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Julia Pazmandi, Marc Hanauer, Nomi L Harris, Michael J Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongqun He, Tim Jeske, Hugh Kearney, Gerhard Kindle, Christoph Klein, Katrin Knoflach, Roland Krause, David Lagorce, Julie A McMurry, Jillian A Miller, Monica C Munoz-Torres, Rebecca L Peters, Christina K Rapp, Ana M Rath, Shahmir A Rind, Avi Z Rosenberg, Michael M Segal, Markus G Seidel, Damian Smedley, Tomer Talmy, Yarlalu Thomas, Samuel A Wiafe, Julie Xian, Zafer Yüksel, Ingo Helbig, Christopher J Mungall, Melissa A Haendel, Peter N Robinson

Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217, https://doi.org/10.1093/nar/gkaa1043

Human Phenotype Ontology downloads page: https://hpo.jax.org/app/data/ontology

U-BRITE last update: 7/6/23