Clinician Guide

The Human Phenotype Ontology (HPO) project offers a variety of resources for working with the HPO. Several of the tools generate lists of diseases that best match a set of HPO terms (some of these tools additionally analyze lists of variants identified by exome or genome sequencing). The choice of terms made by clinicians or researchers using the tools can influence the output of the tools, and therefore, it is important to choose the terms well.

• How does the HPO define 'phenotype'?
• HPO term selection
• Documentation about the HPO Community
• Frequently asked questions

Patient Health Information Disclaimer

The HPO project offers a number of demonstration tools on the internet that intend to show prospective users how to run the tools and interpret the output. We note that in no case should Protected Health Information be transmitted to these tools across the internet. Instead, downloadable versions of these tools (such as the Exomiser) should be used behind appropriate firewalls.