Human Phenotype Ontology Explained

The Human Phenotype Ontology (HPO) is a formal ontology of human phenotypes.^{[1] [2] [3] [4]} Developed as part of the Monarch Initiative in collaboration with members of the Open Biomedical Ontologies Foundry, HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. 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 in 2008 at the Charité 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

• Disease Ontology
• Gene Ontology

External links

• Human Phenotype Ontology Website

Notes and 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, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN . 6 . The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data . Nucleic Acids Research . 42 . Database issue . D966-74 . January 2014 . 24217912 . 3965098 . 10.1093/nar/gkt1026 .
2. Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S . The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease . American Journal of Human Genetics . 83 . 5 . 610–5 . November 2008 . 18950739 . 2668030 . 10.1016/j.ajhg.2008.09.017 .
3. Robinson PN, Mundlos S . The human phenotype ontology . Clinical Genetics . 77 . 6 . 525–34 . June 2010 . 20412080 . 10.1111/j.1399-0004.2010.01436.x . 5210535 .
4. Köhler S, Doelken SC, Rath A, Aymé S, Robinson PN . Ontological phenotype standards for neurogenetics . Human Mutation . 33 . 9 . 1333–9 . September 2012 . 22573485 . 10.1002/humu.22112 . free .