Phenotypr is a free educational tool for people who believe they may have a disorder and want to learn more about their condition. This tool aims to provide additional information about what you are experiencing. We recommend you discuss this information with your healthcare provider to assist in your diagnosis.
How it works

You or your child will progress through a series of questions related to your child’s health. The tool will then provide you with a mapping of HPO terms. Providing HPO mapping to your healthcare provider can assist in diagnosis.

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What is HPO?

The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality.

The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains approximately 11,000 terms (still growing) and over 115,000 annotations to hereditary diseases.

Learn more at the Human Phenotype Ontology website.

Why use HPO?

Knowing you or your child's HPO mapping can provide your healthcare provider access to quality, structured phenotyping data. Providing this information to your clinicians can assist in diagnosis (e.g., there may be something your medical team doesn't know about!).

There are also an increasing number of patient-facing tools that use HPO terms, including MyGene2 and RareConnect.

If you have a webpage and are looking to find others with the same condition, having HPO terms will allow you to perform Search Engine Optimization. A great webpage on the power of search engine optimization in rare diseases is here.