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

    Köhler, S; Doelken, SC; Mungall, CJ; Bauer, S; Firth, HV; Bailleul-Forestier, I; Black, GCM; Brown, DL; Brudno, M; Campbell, J; FitzPatrick, DR; Eppig, JT; Jackson, AP; Freson, K; Girdea, M; Helbig, I; Hurst, JA; Jähn, J; Jackson, LG; Kelly, AM; Ledbetter, DH; Mansour, S; Martin, CL; Moss, C; Mumford, A; Ouwehand, WH; Park, S-M; Riggs, ER; Scott, RH; Sisodiya, S; Van Vooren, S; Wapner, RJ; Wilkie, AOM; Wright, CF; Vulto-van Silfhout, AT; de Leeuw, N; de Vries, BBA; Washingthon, NL; Smith, CL; Westerfield, M; Schofield, P; Ruef, BJ; Gkoutos, GV; Haendel, M; Smedley, D; Lewis, SE; Robinson, PN (Oxford University Press, 2013-11-11)
    The Human Phenotype Ontology (HPO) project, available at, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities ...