Ontology for Genetic Susceptibility Factor
Ontology for Genetic Susceptibility Factor (OGSF) is an application ontology to model/represent the notion of genetic susceptibility to a specific disease or an adverse event or a pathological biological process. It is developed using BFO2.0's framwork. The ontology is under the domain of genetic epidemiology (http://en.wikipedia.org/wiki/Genetic_epidemiology).
What is Genetic Susceptibility?
Genetic susceptibility, also called genetic predisposition, is an increased likelihood or chance of developing a particular disease due to the presence of one or more gene mutations and/or a family history that indicates an increased risk of the disease. The allele that confers the increased risk/susceptibility is inherited but the disease itself will not. The single locus genotype is insufficient to result in disease. For the disease to appear, impaired expression of alleles at other gene loci and/or environmental factors are needed.
OGSF can be opened in protege using here: https://raw.githubusercontent.com/linikujp/OGSF/master/src/ogsf-merged.owl. It is recommended to use check out to see the imported portion of other ontologies in OGSF.
Lin Y, Sakamoto N: * Ontology driven modeling for the knowledge of genetic susceptibility to disease *. Kobe J Med Sci 2009, 55(3):E53-66.
Lin Y, He Y : * The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events *. Journal of Biomedical Semantics.2014, 5:19 DOI: 10.1186/2041-1480-5-19