How to prioritize disease-gene pairs by calculating the similarity between patient clinical features and all known diseases using Human Phenotype Ontology.
Human Phenotype Ontology (HPO) [ https://hpo.jax.org/ ] is a set of hierarchically structured terms widely used to describe both standard human disease symptoms and clinical phenotypes of individual patients. HPO is a standard vocabulary for annotating disease phenotypes, and is adopted by many different public disease databases. One example of these valuable resources is Orphanet [ https://www.orpha.net/ ]. Aggregate data constantly updated by Orphanet can be accessed from the Orphadata website [http://www.orphadata.org/cgi-bin/index.php], such as rare disease associated genes and clinical symptoms. These datasets are available in nine languages. There are several bioinformatics methods that use Human Phenotype Ontology (HPO) in clinical diagnostics; these methods generally use descriptions of a patient's clinical features encoded with HPO terms, and return a diagnostic prediction based on the ontological similarity between the patient's symptoms and the HPO codes assig