The Human Phenotype Ontology is a formal ontology of human phenotypes. 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.