Mendelian for Physicians

From findings to conditions in a few clicks

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Mendelian syndrome and rare disease finder

Diagnosing Rare Diseases is no small feat. Indeed, it takes on average 8 years and 4 specialists, often involving misdiagnoses. The fact is that there are over 8,000 rare conditions, the information on them is scattered across multiple sources and new research is published every day.

We have built an online service to assist you with undiagnosed patients: plug in findings and in a matter of seconds you will get potential rare conditions and required testing that can help accelerate diagnosis. Online, free and continuously updated.

How does it work?

Mendelian provides a solution to streamline the genetic diagnosis process

1. Enter Symptoms

Doctors enters patient’s symptoms and clinical features

Mendelian syndrome and rare disease finder

2. Semantic analysis

Semantic analysis in seconds with our proprietary algorithms

Mendelian syndrome and rare disease finder

3. Get the results

Output likely causative diseases genes and mutations

Mendelian syndrome and rare disease finder

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Key Benefits

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 the application 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. Our application 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 our software an invaluable research tool for 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 the App?

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 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 outperforming alternative solutions.

Who is using it?

With over 50,000 users from over 150 countries since launch, we are proud to help world renowned institutions.

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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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Empowering doctors in rare disease diagnosis

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