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Do you suspect you have a rare health condition or disability?

Try one of our tools to get more information.

Email us for a personalized plan

Learn more

How it works

Answer questions

Answer a series of questions about your mental and physical health.

Get your results

We will provide you with a mapping of your Human Phenotype Ontology (HPO) terms. These terms are used to describe your health condition and any abnormalities.

Meet with your healthcare provider

You can provide your healthcare provider with your HPO terms to assist them in your pathway to diagnosis.

Choose a tool

Mind

For parents who suspect their child may have an intellectual disability or neurological condition.

Get started

Body

For individuals who suspect they have a health condition or disability. This tool focuses on all body systems including neurological.

Coming soon!

Chromosome 16p13.11 deletions and duplications

Provides in depth HPO mapping for families and individuals who have 16p13.11 deletions or duplications.

Coming soon!

The Manton Center for Orphan Disease Research at Boston Children's Hospital is interested in participants with a rare diagnosis.

Your participation may help make advances in diagnosing and treating health problems. It may also lead to discovering more information about the rare disorder in your family. Learn more about contacting the Manton Center for Orphan Disease Research with your HPO terms once you complete a survey.

Visit the Manton Center website for more information.

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