Definition
A database providing a standardised vocabulary of phenotypic abnormalities found in human disease.
Use in clinical context
The Human Phenotype Ontology provides a centralised source for describing an individual’s signs and symptoms consistently and accurately.
This allows for use of a standard vocabulary in clinical databases, which can help clinicians that are studying rare diseases worldwide. Providing an accurate and complete summary of a patient’s condition using HPO terms is critical when analysing genomic data. If incorrect or incomplete information is provided, potentially relevant genomic findings may not be identified during analysis. An accurate diagnosis can contribute to our understanding of the condition, and can enable patients to be put in touch with experts and patients with the same condition.
