The Human Phenotype Ontology in 2017.

TitleThe Human Phenotype Ontology in 2017.
Publication TypeJournal Article
Year of Publication2017
AuthorsKöhler, S, Vasilevsky, NA, Engelstad, M, Foster, E, McMurry, J, Aymé, S, Baynam, G, Bello, SM, Boerkoel, CF, Boycott, KM, Brudno, M, Buske, OJ, Chinnery, PF, Cipriani, V, Connell, LE, Dawkins, HJS, DeMare, LE, Devereau, AD, de Vries, BBA, Firth, HV, Freson, K, Greene, D, Hamosh, A, Helbig, I, Hum, C, Jähn, JA, James, R, Krause, R, Laulederkind, SJF, Lochmüller, H, Lyon, GJ, Ogishima, S, Olry, A, Ouwehand, WH, Pontikos, N, Rath, A, Schaefer, F, Scott, RH, Segal, M, Sergouniotis, PI, Sever, R, Smith, CL, Straub, V, Thompson, R, Turner, C, Turro, E, Veltman, MWM, Vulliamy, T, Yu, J, von Ziegenweidt, J, Zankl, A, Zuchner, S, Zemojtel, T, Jacobsen, JOB, Groza, T, Smedley, D, Mungall, CJ, Haendel, M, Robinson, PN
JournalNucleic Acids Res
Date Published2017 Jan 04
KeywordsAlgorithms, Biological Ontologies, Computational Biology, Genetic Association Studies, Genomics, Humans, Phenotype, Precision Medicine, Rare Diseases, Software, Translational Medical Research

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.

Alternate JournalNucleic Acids Res.
Citation Key10.1093/nar/gkw1039
PubMed ID27899602
PubMed Central IDPMC5210535
Grant ListU01 HG009453 / HG / NHGRI NIH HHS / United States
RP-PG-0310-1002 / / Department of Health / United Kingdom
U41 HG000330 / HG / NHGRI NIH HHS / United States
R24 OD011883 / OD / NIH HHS / United States
G1002274 / / Medical Research Council / United Kingdom
RG/09/012/28096 / / British Heart Foundation / United Kingdom