Mendelian the search engine for phenotype-genotype relationships

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

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

We have developed a tool that simplifies the process by offering the most accurate rare diseases search engine.

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Mendelian Background

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

How is Mendelian used?

Confronted with a rare disease case, patient's clinical features are first entered into, 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?

imperial college logo
indepf logo
Mendelian the search engine for phenotype-genotype relationships

Get started with Mendelian

Start by building a patient profile