Mendelian syndrome and rare disease finder

A search engine mapping phenotypes and genotypes

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Mendelian syndrome and rare disease finder

How does it work?

A platform powered by the latest research

Information regarding rare diseases is fragmented and disorganised. Our platform carefully collects and curates data spanning multiple databases and formats with the help of our propietary algorithm and the Community feedback. We also harness natural language processing to extract new phenotypes from recent publications, allowing us to constantly improve our service. With Mendelian, you can be sure that you’re always working with the most up-to-date knowledge.

Bringing accurate results to your fingertips instantly

accurate rare disease finder

Our sleek and intuitive interface makes finding results hassle-free. Too many phenotypes to search individually? Just paste in a large block of text and MendelApp will extract the clinical features for you. When you find a potential disease, just click on the result and all the information and sources are displayed for you to continue your research.

Simplify the process of rare disease diagnosis

rare disease diagnosis made easy

It takes about 7 years to diagnose a rare disease in the UK and misdiagnoses are common. MendelApp provides a number of useful features with the aim of improving diagnostic rates. The ability to save your patients and view the most relevant gene panels for your search makes MendelApp an invaluable research tool in rare disease diagnosis. Our smart suggestions highlight phenotypes which could significantly narrow down your search and help guide your clinical investigations.

How do I get started with MendelApp?

Sign up for free and get results instantly

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Have more questions?

How does it work?

As you enter clinical features, the MendelApp algorithm scores and ranks every disease in the Mendelian database based on how closely your query matches the disease’s annotated phenotypes (that’s over 8000!). We even factor in phenotype onsets and inheritance patterns, giving you the most accurate results.

How well does it perform?

We test our algorithm against a number of benchmarks, consisting thousands of real patients and consistently outperform our competitors. Furthermore, we are working with world-renowned institutions to collect more cases in order to improve our algorithm.

Who is using MendelApp?

Since our launch in 2015, we have received over 30,000 unique users spanning 133 different countries. We are proud to receive encouraging feedback from users using our service daily.

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If you are looking to bring the power of mendelian to your application please contact us for more information.

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Benchmarks and results accuracy


Mendelian against current gold standard

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Success Story in clinics

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Fixing Diagnosis for Rare Diseases

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