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

Köhler, S.; Carmody, Leigh; Vasilevsky, N.; O. B. Jacobsen, Julius; Danis, D.; Gourdine, J.; Gargano, M.; Harris, N.; Matentzoglu, Nicolas; McMurry, J.; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, J.; Conlin, Tom; Blau, Hannah; Baynam, Gareth; Palmer, Richard; Gratian, Dylan; Dawkins, H.; Segal, Michael; Jansen, A.; Muaz, A.; H. Chang, Willie; Bergerson, J.; Laulederkind, S.; Yüksel, Z.; Beltran, S.; Freeman, A.; Sergouniotis, P.; Durkin, D.; L. Storm, A.; Hanauer, M.; Brudno, M.; Bello, S.; Sincan, Murat; Rageth, Kayli; Wheeler, M.; Oegema, R.; Lourghi, Halima; G. Della Rocca, Maria; Thompson, Rachel; Castellanos, Francisco; Priest, J.; Cunningham-Rundles, C.; Hegde, Ayushi; Lovering, R.; Hajek, Catherine; Olry, A.; Notarangelo, L.; Similuk, M.; Zhang, X.; Gómez-Andrés, D.; Lochmüller, Hanns; Dollfus, H.; Rosenzweig, S.; Marwaha, S.; Rath, A.; Sullivan, K.; L. Smith, Cynthia; Milner, J.; Leroux, D.; Boerkoel, C.; Klion, A.; Carter, M.; Groza, T.; Smedley, D.; Haendel, M.; Mungall, C.; N. Robinson, Peter

doi:10.1093/nar/gky1105

Public

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

Shared by NobleBlocks on Nov 22, 2018 • 12:00 AM UTC

Authors:

S. Köhler

Leigh Carmody

N. Vasilevsky

Abstract

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 ...

Subject

Medicine

Biology

Computer Science

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!