The Human Phenotype Ontology (HPO) is a formal
ontology
Ontology is the philosophical study of existence, being. It is traditionally understood as the subdiscipline of metaphysics focused on the most general features of reality. As one of the most fundamental concepts, being encompasses all of realit ...
of human
phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological propert ...
s.
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
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM ...
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
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are ...
.
Motivation
The Human Phenotype Ontology (HPO) was created in 2008 at the
Charité
The Charité – Universitätsmedizin Berlin (Charité – Berlin University of Medicine; ) is Europe's List of hospitals by capacity, largest university hospital, affiliated with Humboldt University of Berlin, Humboldt University and the Free ...
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
The Gene Ontology (GO) is a major bioinformatics initiative to unify the representation of gene and gene product attributes across all species. More specifically, the project aims to: 1) maintain and develop its controlled vocabulary of gene and ...
References
External links
Human Phenotype Ontology Website
Ontology (information science)
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