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.
Browse our genes and rare diseases knowledge base
Symptoms
Frontal bossing and Round face Diseases and genetic alterations
Frontal bossing and Amenorrhea Diseases and genetic alterations
Frontal bossing and Thick vermilion border Diseases and genetic alterations
Frontal bossing and Highly arched eyebrow Diseases and genetic alterations
Frontal bossing and Holoprosencephaly Diseases and genetic alterations
Frontal bossing and Esotropia Diseases and genetic alterations
Frontal bossing and Single transverse palmar crease Diseases and genetic alterations
View more Symptoms
View more Symptoms
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 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?
