Human Phenotype Ontology

The Human Phenotype Ontology (HPO) is a standardised vocabulary of over 18,000 terms used to describe clinical anomalies, signs and symptoms found in disease, including in rare genetic conditions. It enables consistent annotation of patient phenotypes, making it vital for diagnosis and research.

The HPO provides a centralised source for describing an individual’s signs and symptoms consistently and accurately. It allows for use of a standard vocabulary in clinical databases, which can help clinicians 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 other patients with the same condition.

This in-depth video tutorial looks at how HPO terms are used in genomics. It covers what we mean by HPO terms, why they are important in clinical practice and how you can access and use the HPO database yourself.

• HPO terms provide a standardised vocabulary for describing human phenotypes.
• An accurate and complete summary of a patient’s condition is vital when analysing and interpreting genomic data.
• It is important to use the most specific HPO term you can.