Mendelian the search engine for phenotype-genotype relationships

Mendelian. Better Rare Disease Diagnosis


How can Mendelian help you?


I'm a health professional

Our tool helps you streamline rare disease patient diagnosis


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I'm a patient

Do you think you have a Rare Disease? Do you want a second clinical opinion?


Learn about the test

Rare diseases are complex. On average, they take 7 years and 8 doctors to diagnose.

We have developed a tool that simplifies the process by offering the most accurate rare diseases and syndromes finder.


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Security and Privacy while Handling Health Information
Mendelian Blog

Security and Privacy while Handling Health Information

Privacy is usually confused with confidentiality. Learn about the importance to guarantee patient’s privacy and security and how we care about it on Mendelian.


Read more Visit the Mendelian blog





Who can benefit from Mendelian search engine?





For Clinicians

from patients' clinical description to causative diseases and genes


For Labs

refine whole genome analysis with phenotypic filters


For Pharma

find therapeutics leads and new targets for existing treatments

About Mendelian


Mendelian is an online rare disease search engine, built with the aim of increasing diagnostic hit rates. Rare diseases and syndromes, their associated genes along with existing gene panels, are algorithmically matched to phenotypes.

How is Mendelian used?

Confronted with a rare disease or syndrome case, patient's clinical features are first entered into www.mendelian.co, the tool outputs a focused shortlist of genes, diseases or disease clusters for consideration. For each result, Mendelian displays the underlying genetics, potential gene panels and a respective match score.

Mendelian search performance

Only half the patients referred to a clinical geneticist for diagnosis of a genetic disorder will be diagnosed. Those patients may subsequently be referred to several physicians, undergo numerous clinical tests and if lucky be offered next-generation genome sequencing to search for causative genes.

Of those referred for genome sequencing, only about 25% will eventually get a confirmed diagnosis. On average, it takes 5.6 years in the UK for a rare disease patient to be diagnosed

Who is using Mendelian?

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Benchmarks and results accuracy

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Mendelian against current gold standard

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Success Story in clinics

Coming soon

Mendelian the search engine for phenotype-genotype relationships

Get started with Mendelian

Start by building a patient profile