Mendelian the search engine for phenotype-genotype relationships

Rare Disease Diagnosis, Faster

Mendelian helps doctors identify rare diseases faster so that patients' lives can be improved with proper and timely care.


Explore our solutions  

Learn how Mendelian accelerates Rare Disease diagnosis for

Rare disease specialist doctor Physicians

Undiagnosed rare disease patient Providers

Hospitals, Clinics and Pharma rare disease screening Payers




Mendelian Why we do what we do?

At Mendelian, we build tools to help doctors find rare disease patients faster and diagnose them earlier. Learn what are key facts most people miss about rare diseases, and how we take care of them to improve the lives of rare disease patients... Learn more about it

By Rudy Benfredj on 3 august 2019

Why we diagnose rare diseases

Mendelian supporters



funded innovate uk by y Department for Business, Energy and Industrial Strategy

Eastern Academic Health Science Network

KQ Labs by Francis Crick Institute
Imperial College VCC by Imperial College


Latest news from the Mendelian Blog


Autism Spectrum Disorders: Definition and top 150+ rare diseases related to them.
Mendelian Blog

Autism Spectrum Disorders: Definition and top 150+ rare diseases related to them.

This time we focus on Autism Spectrum Disorders and highlight the top 150 rare diseases related to them as part of our commitment to improving the diagnostic odyssey for those affected by rare diseases .


Read more


Visit the Blog

Browse our Rare Diseases Knowledge Base


Rare Diseases

STROMME SYNDROME; STROMS FRANK-TER HAAR SYNDROME; FTHS SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13
View more Rare Diseases

Genes

BCL3 TRIM27 PTGER3
View more Genes

Signs and Symptoms

Frontal bossing and Prominent forehead, related diseases and genetic alterations Frontal bossing and Thick eyebrow, related diseases and genetic alterations Frontal bossing and High forehead, related diseases and genetic alterations
View more Signs and Symptoms
Get started with Mendelian

Fixing Diagnosis for Rare Diseases


Explore our solutions
Accept All
Customize


This website or its third-party tools use cookies, which are necessary to its functioning and required to achieve the purposes illustrated in the privacy and cookie policy. If you want to know more or withdraw your consent to all or some of the cookies, please click on Cookie Settings. By closing this banner, scrolling this page, clicking a link or continuing to browse otherwise, you agree to the use of cookies.
Manage your cookies
Essential site cookies
Analytical Cookies
Improve our website by collecting and reporting information on its usage.
Marketing Cookies
Improve the relevancy of advertising campaigns you receive.
Social Sharing, Chat and Comments Cookies
Allow sharing on social media, and using our chat
Use recommended Settings
 
Apply custom configuration