On February 25, 2026, in recognition of Rare Disease Day, IMO Health unveiled the operational integration of Mondo rare disease knowledge into everyday clinical workflows. This initiative aims to enhance the precision of rare disease diagnoses by providing health systems with direct access to research-grade definitions at the point of care. The development addresses a significant issue in healthcare: the persistent underdiagnosis and delays in treatment faced by patients with rare diseases.
By embedding Mondo’s structured knowledge within clinical practice, IMO Health allows clinicians to document rare diseases using familiar clinical terms. This seamless integration links the documentation to the Mondo ontology, resulting in clearer disease definitions and improved data continuity. Such advancements contribute to better care delivery and precision medicine, ultimately benefiting patients today while paving the way for accelerated research into unmet medical needs and treatment efficacy.
Significant Enhancements to Clinical Workflows
The collaboration between IMO Health and Dr. Melissa Haendel, a key figure in the development of the Mondo ontology, has led to the mapping of nearly 5,000 new rare disease diagnoses and over 25,000 updated terms to Mondo. This expanded terminology provides a consistent framework for disease definitions across clinical care, research, and analytics. Such integration into electronic health records (EHRs) marks a critical advancement in operationalizing rare disease knowledge in real-world healthcare settings.
Dr. Haendel, Director of Precision Health and Translational Informatics at the University of North Carolina School of Medicine, emphasized the importance of this initiative, stating, “Rare disease patients often experience years of uncertainty before receiving an accurate diagnosis. By bringing standardized, high-quality rare disease definitions into clinical workflows, IMO Health is helping ensure that patients, clinicians, and researchers are working from the same shared understanding – an essential foundation for effective diagnostics and care.”
Impact on Diagnosis and Treatment
The integration of Mondo into IMO Health’s clinical vocabulary equips clinicians with tools to document rare diseases with enhanced specificity and confidence. This capability is expected to lead to shorter times to diagnosis and improved patient identification, which reduces false positives and minimizes the need for manual chart reviews. Early research collaborations have already demonstrated these benefits using IMO Health’s rare disease lexicons mapped to Mondo.
Kerri Grizer, VP of Product Management at IMO Health, noted, “By integrating Mondo into our extensive clinical vocabulary, we’re giving clinicians the tools they need to document rare diseases with greater specificity and confidence – helping patients reach answers faster and enabling health systems to leverage high-quality, structured data effectively.”
Research conducted by the University of Cincinnati College of Medicine underscores the practical benefits of this integration. Dr. Jing Chen, an associate professor of pediatrics and biomedical informatics, reported that using IMO Health’s terminology for rare disease patient identification in EHRs identified 5.5 times more diseases and 20% more patients compared to standard ICD-10 coding systems. The integration with Mondo is projected to expand coverage for rare genetic disease diagnoses from 51% to 75% while maintaining over 99% precision.
These findings suggest that enhanced clinical terminologies can significantly improve healthcare systems’ ability to identify rare disease patients efficiently and accurately, potentially reducing diagnostic delays and improving overall patient outcomes.
By operationalizing Mondo’s knowledge in clinical settings, IMO Health reinforces its commitment to improving outcomes for patients and families navigating complex and underserved areas of medicine. As rare disease data is consistently captured at the source, health systems and life sciences organizations will gain access to a shared, computable understanding of diseases that has historically been fragmented.
This foundational work supports more accurate cohort identification, trial feasibility analysis, and real-world evidence generation, facilitating more complete and precise patient journeys while ensuring clinician efficiency and data integrity at the point of care. The integration of rare disease knowledge directly into clinical workflows exemplifies IMO Health’s ongoing efforts to enhance the clinical intelligence necessary for improving care and advancing healthcare analytics and AI.
As these advancements continue to unfold, IMO Health is poised to unlock new opportunities for research and insights into rare diseases, addressing the needs of an often-overlooked patient population with significant unmet medical needs. For more information about IMO Health and its portfolio of solutions, visit www.imohealth.com/imo-portfolio/.
