Rare diseases currently impact roughly one in ten Americans, yet the way they are documented in clinical systems has not always reflected their complexity. Inconsistent definitions and imprecise terminology can make it harder to identify patients, connect data across systems, and fully support research efforts.
That is beginning to change.
As announced in a recent press release, IMO Health has operationalized Mondo rare disease knowledge directly within everyday clinical workflows, making research-grade rare disease definitions usable at the point of care. Instead of living primarily in research environments, this knowledge is now embedded where clinical decisions and documentation actually happen.
Turning research definitions into usable clinical terms
The Mondo ontology, developed by the Monarch Initiative and led by Dr. Melissa Haendel, harmonizes rare disease definitions across clinical and genetic sources. It creates a unified, computable framework that helps standardize how rare diseases are defined and understood.
IMO Health has mapped nearly 5,000 new rare disease diagnoses and updated more than 25,000 existing terms to Mondo. The expansion enables clinicians to continue using familiar IMO Health terms when documenting in the electronic health record (EHR). Behind the scenes, those terms are connected to standardized Mondo IDs, bringing consistency across care, research, and analytics.
This approach translates complex research knowledge into clinician-friendly language that fits naturally into existing workflows. The expanded terminology is available for integration into EHR systems, helping normalize structured rare disease capture as part of routine care.
Dr. Melissa Haendel, PhD, Director of Precision Health and Translational Informatics at the University of North Carolina School of Medicine and co-founder of the Monarch Initiative, has long emphasized the importance of shared disease definitions. Embedding high-quality rare disease knowledge directly into clinical workflows helps ensure that clinicians, researchers, and patients are working from the same foundation.
What more precise rare disease data makes possible
Capturing rare diseases consistently and in structured form at the source enables health systems to:
- Reduce time to diagnosis through terminology aligned with current scientific and genetic understanding
- Identify and cohort patients more accurately, with fewer false positives and less manual chart review
- Strengthen treatment planning and clinical trial matching with unified disease definitions
Research from Cincinnati Children’s highlights this potential. Using IMO Health’s terminology to identify rare disease patients in EHR data uncovered 5.5 times more diseases and 20% more patients compared to standard ICD-10 coding alone. With Mondo integration, coverage for rare genetic disease diagnoses expands from 51% to 75% while maintaining more than 99% precision.
These results point to a meaningful improvement in visibility and accuracy – both essential for patients navigating complex conditions.
A stronger foundation for research and artificial intelligence
Operationalizing Mondo within clinical workflows supports care delivery today and creates a stronger data foundation for tomorrow.
As rare disease data becomes consistently structured and computable, health systems and life sciences organizations can build more complete longitudinal patient journeys. That foundation enables better cohort identification, more reliable trial feasibility analysis, and higher quality real-world evidence.
It also supports the analytics and AI initiatives that depend on precise, standardized clinical data.
By embedding rare disease knowledge directly into its clinical vocabulary platform, IMO Health is helping make rare disease data more visible, more usable, and more actionable across the healthcare ecosystem.
