The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Köhler, S.; Doelken, S.; Mungall, C.; Bauer, Sebastian; Firth, H.; Bailleul-Forestier, I.; Black, G.; L. Brown, Danielle; Brudno, M.; Campbell, Jennifer; FitzPatrick, D.; Eppig, J.; Jackson, A.; Freson, K.; Gîrdea, M.; Helbig, I.; Hurst, J.; Jähn, J.; Jackson, L.; Kelly, A.; Ledbetter, D.; Mansour, S.; Martin, C.; Moss, C.; Mumford, A.; Ouwehand, W.; Park, Soo-Mi; Riggs, E.; Scott, R.; Sisodiya, S.; V. Vooren, S.; Wapner, R.; Wilkie, A.; Wright, C.; V. Silfhout, A.; Leeuw, N.; Vries, B.; Washington, N.; L. Smith, Cynthia; Westerfield, M.; Schofield, P.; Ruef, B.; Gkoutos, G.; Haendel, M.; Smedley, D.; Lewis, S.; N. Robinson, Peter

doi:10.1093/nar/gkt1026

Public

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Shared by NobleBlocks on Jan 1, 2014 • 12:00 AM UTC

Authors:

S. Köhler

S. Doelken

C. Mungall

Abstract

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 d...

Subject

Medicine

Biology

Computer Science

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