Mendelian patient screening tool for clinics


A search engine mapping phenotypes and genotypes

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The world’s most powerful and accurate search engine designed specifically for physicians working in Rare Disease diagnosis.

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.

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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.

Learn more about how it works

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.

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How do I get started with MendelApp?

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rare disease finder tool

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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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Key features of MendelApp

Rare disease patients saved in the cloud

Save Patients

Store your patients and revisit them at a later date.

Rare disease research notifications


Subscribe to diseases of interest and receive notifications when new research creates interesting leads for your patient.

Share diagnosis

Share your results

Share your results by email and generate pdf and csv reports of your results automatically.

Integrate Mendelian into your workflow with our API?

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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Mendelian the search engine for phenotype-genotype relationships

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The most advanced tool mapping phenotypes and genotypes