From Wikipedia, the free encyclopedia
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
References
^ Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, et al. (January 2014).
"The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data" . Nucleic Acids Research . 42 (Database issue): D966-74.
doi :
10.1093/nar/gkt1026 .
PMC
3965098 .
PMID
24217912 .
^ 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 .
PMC
2668030 .
PMID
18950739 .
^ 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 .
PMC
5210535 .
PMID
20412080 .
^ 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 .
External links