RareMDx™ is specifically developed for use by frontline medical professionals who are typically the first point of contact and provide care for patients with undiagnosed disorders.
Rare diseases exhibit significant variability in presentation among patients, with around 60 percent displaying notable heterogeneity. The complexity of diagnosing rare diseases is compounded by the scattered nature of relevant data across various sources.
To tackle this challenge, we conducted extensive research and compiled a comprehensive compendium featuring 4043 different rare diseases and 7693 different signs/symptoms. This includes over 800 laboratory values with reference ranges published by authoritative medical boards.
RareMDx™ is tailored for frontline medical professionals who often encounter patients with undiagnosed disorders initially, streamlining the diagnostic process for rare diseases.
Phenotype-driven differential diagnosis tool
RareMDx™ is a phenotype-driven differential diagnosis tool. It relies on specific observable characteristics or traits (phenotypes) of a patient to generate potential diagnoses. By analyzing these phenotypes and comparing them to a database of rare diseases, RareMDx™ provides a list of suspected diagnoses ranked by probability. Through human-intelligence-based research, each of 7693 signs/symptoms is assigned a weight reflecting its relevance to the 4043 different rare diseases in the platform. Probability algorithms predict and rank diseases based on selected signs/symptoms, providing a likelihood order for diagnosis.
Time efficient
Medical professionals receive an initial list of up to 10 suspected rare diseases, ranked by probability, based on selected signs/symptoms. Secondary selection of typical disease-specific signs/symptoms not previously selected can enhance prediction validity and change the order of probability. The entire process, from selection to prediction, takes only minutes to complete.
Rare disease specific information
RareMDx™ provides comprehensive information per predicted disease, including: Disease name synonym(s). Disease description and clinical synopsis. Typical disease-specific signs/symptoms that were not previously selected. Prevalence of the disease. Age of onset of the disease. Genetic profile. Biomarkers. Biopharmaceutical companies with vested interest in one or more predicted diseases. ICD 10/11 International Classification of Diseases Codes. Directed web access to newborn screening programs. Directed web access to clinical trials. Directed web access to PubMed publications. Directed web access to registry programs.
Access to Centers of Excellence and rare disease patient societies
RareMDx™ provides directed web access to 45 rare disease centers of excellence and > 2000 Rare disease specific/advocacy organizations in over 100 countries.
Start your journey with RareMDx™ here.
RareMDx™ is tailored for medical professionals, including general practitioners, family physicians, pediatricians, genetic counselors and other medical professionals.
To access our comprehensive rare disease-focused diagnostic tool, please subscribe to one of the options listed at the bottom of this page. Medical students are also encouraged to subscribe to gain early familiarity with rare diseases in their careers.
Once logged in, you’ll have full access to RareMDx™.
In the search box, type terms for signs, symptoms, synonyms, and keywords. Select only those that exactly describe the patient’s presentation. If uncertain, avoid selecting. Take your time to explore different keywords.
Choose at least four signs and symptoms, then click ‘Search Diseases’. This activates the probability algorithm, generating a list of up to ten suspected diagnoses. Keep selecting more signs/symptoms in this initial/primary search if possible. If a pathognomonic sign/symptom is chosen, only one suspected diagnosis (and its subtypes) will be listed.
Many of these organizations have a Medical and Scientific Advisory Board of which most often clinical experts are members. That provides an opportunity for treating physicians to consult with local, regional, or national clinical experts.
Below are our three paid subscription options and one option for free access to RareMDx™ for treating physicians. If your patient provided you with a 'Letter to treating physician' please scroll down for more information how to use the code to obtain free access to RareMDx™ for 6 months.
$125 per month.
Choose the one-month subscription option.
Enter your payment details and any required information.
Confirm your subscription.
You will receive confirmation of your 1-month subscription to RareMDx™.
Once subscribed, you will have access to RareMD for one month from the date of subscription.
$71 per month.
Choose the six month subscription option.
Enter your payment details and any required information.
Confirm your subscription.
You will receive confirmation of your 6-month subscription to RareMDx™.
Once subscribed, you will have access to RareMD for six month from the date of subscription.
$56.25 per month.
Choose the 1-year subscription option.
Enter your payment details and any required information.
Confirm your subscription.
You will receive confirmation of your 1-year subscription to RareMDx™.
Once subscribed, you will have access to RareMD for 12 months from the date of subscription.
LETTER TO TREATING PHYSICIAN.
A patient, parent, or caregiver may have provided their physician with a ‘Letter to treating physician’. The letter includes selected signs/symptoms and suspected rare diseases as a result of their use of RareLook™, the layman’s terms version of RareMDx™.
RareMD offers physicians who receive such letter six months of free access to RareMDx™. Physician can sign up for this offer by using the access code included in letter.
Access to RareMDx™ enables treating physicians to complement signs/symptoms in letter with those in patient’s medical records.