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RDK Rare Disease Knowledge®
Your assistant from the first symptoms to
referral to the appropriate expert center.
Co-developed with
They support us
Search for rare diseases
Based on a combination of signs or symptoms observed and entered into our Assistant Tool.
Access knowledge
Includes a complete fact sheet based on Orphanet data and recent publications.
Referral to expert centres
Find the expert centres likely to diagnose and manage patients.
Who is this application for?
Hélène BERRUE GAILLARD
Alliance Maladies Rares President
“It takes an average of 4 years to be referred to an expert center, and depending on the pathology, this diagnostic errancy can last 5, 10 or even a lifetime. For these progressive and often disabling diseases, a delay in diagnosis has disastrous consequences for the health, morale, education, social and family life, budget and treatment of the people concerned. And, sadly, this delay sometimes leads to the early death of children and adults affected by a rare disease [....]. The RDK app provides an effective response and a long-awaited technological solution for the rare disease community, including patients.”
Ana RATH
Orphanet Director
“By helping doctors to guide and manage patients who may suffer from rare diseases, RDK is an application of high social value that optimizes the knowledge developed by Orphanet over the last 25 years thanks to public support.”
“A very fluid, attractive and easy to use application. The symptomatic approach in the main menu is very interesting for practitioners [...] The disease data sheets are well constructed.”
Medical intern
“RDK meets a key demand”
General Medicine Intern
“Very useful for specialists [...] essential for supporting diagnosis and therefore better targeting of genetic testing.”
Neurologist
6 354
Rare diseases
75%
Are genetic in origin, affecting patients from childhood
300 million
Patients in the world
2 to 7 years
Of misdiagnosis
RDK, an essential ally for doctors in the fight against rare diseases. Watch our video:
Orphanet Data
Updated, supplied and enriched by Orphanet with your feedback
Expert centers*
Sorted by relevance or via an interactive map, with departmental contacts.
*Labelling by the Ministry of Health (France)
Signs and symptoms
Sorted by frequency. Description, synonyms and anatomical classification.
Clinical trials
BETAList of clinical trials currently recruiting, description and contact details.
Publications
Case studies and scientific reviews on rare diseases.
Guidelines
Documents, reccommedations, and emergency guidelines for the attending physician.
Clinical description
Written and updated by Orphanet.
Genes
List of genes involved with their symbols and synonyms.
Download RDK for free
A unique partnership
A public-private partnership based on Orphanet's scientific expertise, Tekkare®'s technology, and the social commitment of as we know®.
Scientific partnership
Orphanet
Created by Inserm, to pool knowledge on rare diseases in order to improve the diagnosis, care, and treatment of patients.
Technical partnership
Tekkare
French company developing digital ecosystems to make the most of healthcare data, and share medical and scientific knowledge.
The sponsors help to fund the development of the application. All content, design and features presented in the application are produced entirely independently.
Show your commitment to the fight for diagnosis of rare diseases by joining us.
I want to become a sponsor
Sponsor
Pfizer
Pfizer, which has a long-standing commitment to rare diseases, is making advances in patient care and quality of life through therapeutic innovation, the development of patient support tools, the fight against misdiagnosis, and more.
Sponsor
Amylyx
Amylyx® is committed to research to overcome degenerative diseases. Amylyx® supports initiatives to improve the diagnosis and care of patients.
Sponsor
Sobi
Sobi is an international biopharmaceutical company focused on rare diseases. Sobi are committed to providing access to innovative treatments that transform the lives of people living with rare diseases.
Sponsor
Kyowa Kirin
Kyowa Kirin is a global Japanese pharmaceutical company. Kyowa Kirin puts their expertise in antibody research and development at the service of patients in a wide range of therapeutic areas, with a focus on rare diseases.
Do you have questions?
Here are some articles on frequently asked questions, use cases, and tutorials that may be of interest to you
Health professionals
FAQ
Become a contributor
Would you like to help us improve the RDK, add a symptom or suggest a new feature?
Read more →
Health professionals
Usecases
My first steps on RDK
A short video introducing the Assistant tool and all the navigation secrets of RDK.
Read more →
View more articles →
We are being talked about
Talents e-santé 2023 award winners
Outpatient Digital Innovation Award for our RDK Rare Disease Knowledge application
View article ↗
Maladies Rares Info Services
Listed as a resource for healthcare professionals in France.
View article ↗
Newsletter Orphanet
Orphanews France is a newsletter about rare diseases and orphan drugs.
View article ↗
RDK is a connected medical device (class I)
ANSM
as we know®, the manufacturer of RDK, has registered RDK with the ANSM as a class I connected medical device, in accordance with article R5211-65 of the French Public Health Code (Acknowledgement of receipt from the ANSM dated 19 January 2023).
CE Marking
as we know®, the manufacturer of RDK, has declared the conformity of RDK as a «sofwtare as medical device» (class I) in order to obtain CE marking.