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Human Phenotype Ontology

Human Phenotype Ontology

An ontology of medical phenotypes, disease phenotypes annotations, and algorithms that operate on the aforementioned terms. It was started in 2007 in Berlin, Germany.

The Human Phenotype Ontology (HPO) is a collaborative project among researchers globally and can be used for computational deep phenotyping and precision medical research. The ontology has thousands of terms that can be searched and represent individual phoentypic anomalies. It can be used for both rare and common diseases and is free to the public to use.

The Ontology

The HPO can be used in conjunction with other ontologies and enables researchers to find similarities in diseases. The ontology consists of terms essential to the study of genes as well as up-to-date content, language translations, mappings and computational tools, and integrations of external community data. Terms can be searched using tools on the website such as the Exomiser, the Phenomizer, and the Genomiser. There is also a clinical annotation tool that can be utilized to create patient phenotype profiles.

The technology that is used within the online ontology includes concept recognition and natural language processing to extract terms essential to researchers' studies.


Further Resources


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

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


November 22, 2018

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease



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