Article
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic acids research - 1 Jan 2014
Köhler Sebastian, Doelken Sandra C, Mungall Christopher J, Bauer Sebastian, Firth Helen V, Bailleul-Forestier Isabelle, Black Graeme C M, Brown Danielle L, Brudno Michael, Campbell Jennifer, FitzPatrick David R, Eppig Janan T, Jackson Andrew P, Freson Kathleen, Girdea Marta, Helbig Ingo, Hurst Jane A, Jähn Johanna, Jackson Laird G, Kelly Anne M, Ledbetter David H, Mansour Sahar, Martin Christa L, Moss Celia, Mumford Andrew, Ouwehand Willem H, Park Soo-Mi, Riggs Erin Rooney, Scott Richard H, Sisodiya Sanjay, Van Vooren Steven, Wapner Ronald J, Wilkie Andrew O M, Wright Caroline F, Vulto-van Silfhout Anneke T, de Leeuw Nicole, de Vries Bert B A, Washingthon Nicole L, Smith Cynthia L, Westerfield Monte, Schofield Paul, Ruef Barbara J, Gkoutos Georgios V, Haendel Melissa, Smedley Damian, Lewis Suzanna E, Robinson Peter N
Abstract excerpt
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types,...
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