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

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

doi:10.1093/nar/gky1105

Public

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

Published in Nucleic Acids Research • Oct 25, 2018

Authors:

Sebastian Köhler

Leigh Carmody

Nicole Vasilevsky

Abstract

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 compu...

Subject

Biology

Phenotype

Knowledge base

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