Human Phenotype Ontology

The Human Phenotype Ontology is a formal ontology of human phenotypes.[1][2][3][4] Developed in collaboration with members of the Open Biomedical Ontologies Foundry, the ontology contains over 10,000 terms describing clinical phenotypic abnormalities. Data from Online Mendelian Inheritance in Man and medical literature were used to generate the terms currently in the HPO. The ontology contains over 50,000 annotations between phenotypes and hereditary disease.

Motivation

The Human Phenotype Ontology (HPO) was created to serve as a standardized vocabulary of phenotypic abnormalities that have been seen in human disease. Applications for the data in the ontology include clinical diagnostics, mapping between phenotypes of model organisms, and as a standard vocabulary for clinical databases. Clinical annotations within the HPO are sought from the medical and genetics community to improve the ontology.

See also

References

  1. ↑ Köhler, S; Doelken, SC;Mungall, CJ;Bauer, S;Firth, HV; Bailleul-Forestier, I; Black, GC;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, SM;Riggs, ER;Scott, RH;Sisodiya, S;Vooren, SV;Wapner, RJ;Wilkie, AO;Wright, CF;Vulto-van Silfhout, AT;Leeuw, ND;de Vries, BB;Washingthon, NL;Smith, CL;Westerfield, M;Schofield, P;Ruef, BJ;Gkoutos, GV;Haendel, M;Smedley, D;Lewis, SE;Robinson, PN (November 2013). "The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.". Nucleic Acids Research 42 (1): D966–74. doi:10.1093/nar/gkt1026. PMID 24217912.
  2. ↑ Robinson, PN; Köhler, S; Bauer, S; Seelow, D; Horn, D; Mundlos, S (November 2008). "The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.". American Journal of Human Genetics 83 (5): 610–5. doi:10.1016/j.ajhg.2008.09.017. PMID 18950739.
  3. ↑ Robinson, PN; Mundlos, S (June 2010). "The human phenotype ontology.". Clinical genetics 77 (6): 525–34. doi:10.1111/j.1399-0004.2010.01436.x. PMID 20412080.
  4. ↑ Köhler, S; Doelken, SC; Rath, A; Aymé, S; Robinson, PN (September 2012). "Ontological phenotype standards for neurogenetics.". Human Mutation 33 (9): 1333–9. doi:10.1002/humu.22112. PMID 22573485.

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