RareMDx™ for medical professionals.
FINDING THAT ELUSIVE DIAGNOSIS EXPEDITIOUSLY.
RareMDx™ is an innovative, phenotype-driven diagnostic tool focused exclusively on rare diseases. It provides medical professionals with access to a human intelligence (HI)–curated research database, enhanced by the cautious and selective use of artificial intelligence (AI). The database includes 7,800+ signs and symptoms, each weighted according to its relevance to 4,100+ rare diseases.
After selecting relevant signs, symptoms and biomarkers, RareMDx activates its algorithm to generate a differential diagnosis (DDx) with up to ten suspected rare diseases, ranked by probability. RareMDx helps medical professionals broaden their diagnostic scope by recognizing patterns that may otherwise be overlooked, especially those that diverge from common disease presentations, thereby enhancing both rare disease awareness and diagnostic accuracy.
Who is RareMDx™ for?
RareMDx™ is specifically designed for frontline medical professionals, often the first point of contact for patients with undiagnosed conditions, supporting them in the early stages of diagnostic decision-making.
Rare diseases often exhibit significant variability in clinical presentation, with approximately 60% displaying notable heterogeneity. This variability poses a substantial challenge in the diagnostic process, as symptoms can differ widely among patients, leading to delays or misdiagnoses. To address this complexity, RareMDx™ was developed to assist frontline medical professionals, those typically first to evaluate patients with undiagnosed conditions, in streamlining the diagnostic process for rare diseases. By providing a comprehensive database of rare diseases and associated signs and symptoms, RareMDx™ aims to enhance diagnostic accuracy and reduce the time to diagnosis.
The benefits of RareMDx™
Phenotype-driven differential diagnosis tool
RareMDx™ is a diagnostic tool focused exclusively on rare diseases. It uses a patient’s observable traits (phenotypes) to generate a ranked list of potential rare disease diagnoses. Through human intelligence–based research, each of the 7,800+ signs, symptoms biomarkers in the platform has a weight reflecting its relevance to one or more of the 4,100+ rare diseases included. By analyzing selected signs and symptoms and comparing them against a curated database, RareMDx™ enables medical professionals to create a rare disease–inclusive differential diagnosis (DDx).
Time efficient
Medical professionals receive an initial list of up to 10 suspected rare diseases, ranked by probability, based on the selected signs and symptoms. A secondary selection of additional, disease-specific signs and symptoms i.e., those not initially selected, can further enhance prediction accuracy and may adjust the ranking of suspected conditions. The entire process, from input to prediction, takes only minutes to complete.
Rare disease specific information
RareMDx™ provides comprehensive information. Each disease will include a hyperlink labeled ‘More Signs/Symptoms’, which reveals additional S/S associated with that disease but not initially selected. When physician clicks on the name of a predicted disease, a one-page overview will be displayed. This page includes: disease name and synonyms, description, prevalence, age of onset, genetic profile, diagnostic tests, biomarkers, clinical trial information, disease registry programs, key publications, ICD-10/11 codes, and accredited Rare Disease Centers of Excellence.
Access to Centers of Excellence and rare disease patient societies
RareMDx™ provides directed web access to 140+ Rare Disease Centers of Excellence in 39 countries and 2,061 rare disease–specific and advocacy organizations across more than 100 countries.
RareMDx enables medical professionals to do much more, efficiently, expertly, and expeditiously.
4100+
Rare Diseases in RareMDx & RareLook
7800+
Phenotypic features (clinical + ancillary) in RareMDx
3800+
Symptoms in plain-language in RareLook
140+
Rare Disease Centers of Excellence in 39 countries
For each predicted disease, RareMDx™ presents the following information:
- Disease name and synonyms.
- Disease description.
- Age of onset.
- Prevalence of the disease.
- Directed web access to newborn screening - NBS.
- Genetic profile.
- Biomarkers
- Molecular genetics and other diagnositic tests.
- Pharmaceutical companies that sponsor our mission to offer RareMDx™ and RareLook™ as free services for all users will be acknowledged on the disease pages for which they market an approved treatment.
- Directed web access to ClinicalTrials.gov.
- Directed web access to International Clinical Trials Registry Platform of the WHO.
- Directed web access to International Classification of Diseases ICD-10/11 codes.
- Directed web access to PubMed publications.
- Directed web access to patient registry programs.
- Directed web access to clinical synopsis in Online Mendelian Inheritance in Man - OMIM.
- Directed web access to 140+ Rare Disease Centers of Excellence in 39 countries.
- Directed web access to > 2000 Rare disease specific/advocacy organizations in over 100 countries.
How to use RareMDx™
Start your journey with RareMDx™ here.
Create an account.
RareMDx™ is tailored for all medical professionals.
To access this comprehensive, rare disease–focused differential-diagnosis tool, please subscribe using one of the options listed at the bottom of this page. Medical students are also encouraged to subscribe to gain early exposure to rare diseases as part of their training.
RareMDx™ is accessible in most countries worldwide and currently compatible with laptop and desktop computers only. For optimal performance, we recommend using Google Chrome as your browser.
Alternatively, you can invite one of your undiagnosed patients to use RareLook™, our layperson-friendly version of RareMDx. After conducting a signs and symptom-based search, they can print a “Letter to Treating Physician” and share it with you. This letter includes a free access code to RareMDx™, allowing you to supplement their findings with data from their medical record.
Because whatever helps getting an undiagnosed patient finally diagnosed, matters.
Initial search for signs & symptoms.
In the search box, enter medical terms describing phenotypic abnormalities. Select only those that accurately reflect the patient’s presentation.
If uncertain, it’s best not to select the term, take your time to explore other keyword options.
Choose at least four signs and symptoms, then click ‘Search Diseases’ to activate the probability algorithm, which will generate a differential diagnosis (i.e., a list of up to ten suspected rare diseases). You can continue adding signs and symptoms using the ‘More signs/symptoms’ feature to further refine the differential diagnosis.
Note: If a pathognomonic sign or symptom is selected, the RareMDx will predict a single disease, and its subtypes.
Secondary search to refine your initial search results.
Disease information for each predicted rare disease.
Subscribe to RareMDx™ today and start the collaborative journey to finding that elusive diagnosis
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.
1 Month Subscription
USD $125. One-month access.
$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.6 Month Subscription
USD $425. Six months access plus 14-day free trial.
$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.
1 Year Subscription
USD $675. One-year access plus 14-day free trial.
$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.
Free access to RareMDx™ for treating physicians.
LETTER TO TREATING PHYSICIAN.
A patient, parent, or caregiver may have provided you as their treating physician with a “Letter to Treating Physician.” This letter includes the signs and symptoms they selected along with a list of suspected rare diseases, as a results from their use of RareLook™, the layman’s version of RareMDx™.
RareMD offers each medical professionals who receive such a letter a one-time, six-month free access to RareMDx™. Physicians can sign up using the access code provided in the letter.
Access to RareMDx™ allows treating physicians to complement the signs and symptoms listed in the letter with clinical data from their patient’s medical record, enabling a them to create a more comprehensive rare disease–inclusive differential diagnosis, DDx.