IMO Health Operationalizes Mondo Rare Disease Knowledge, Bringing Greater Precision to Diagnosis and Research

ROSEMONT, Ill., Feb. 25, 2026 /PRNewswire/ -- In recognition of Rare Disease Day, IMO Health today announced the operationalization of Mondo rare disease knowledge within everyday clinical workflows, expanding access to research-grade rare disease definitions directly at the point of care. This advancement enables health systems to capture precise, structured rare disease data where it matters most, during clinical decision-making, addressing one of the primary drivers of underdiagnosis and delayed care.

Through this expansion, IMO Health enables clinicians to document rare diseases using familiar clinical terms while seamlessly linking that documentation to the Mondo ontology behind the scenes. The result is clearer disease definition, improved data continuity, and greater confidence in diagnosis. These advances enable better care delivery and precision medicine for patients today while accelerating research into unmet needs and treatment efficacy to better serve patients in the future.

Developed in collaboration with Dr. Melissa Haendel and the Monarch Initiative, creators and curators of the Mondo ontology, this work translates research-grade rare disease knowledge into clinician-friendly terms embedded directly within care workflows. Nearly 5,000 new rare disease diagnoses and more than 25,000 updated IMO Health terms are now mapped to Mondo, enabling consistent disease definition across clinical care, research, and analytics.

This expanded terminology is now available for integration into EHRs, marking a significant step forward in operationalizing research-grade rare disease knowledge in real-world care environments. Broader deployment represents a meaningful step toward normalizing rare disease capture across routine care, enabling earlier identification, improved continuity, and the creation of high-fidelity, more complete longitudinal datasets that can support improving clinical outcomes and advancing research.

"Rare disease patients often experience years of uncertainty before receiving an accurate diagnosis," said 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. "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."

"By integrating Mondo into IMO Health's 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 fully leverage the power of high-quality, structured data," said Kerri Grizer, VP of Product Management, Terminology Foundation Platform, IMO Health.

For clinicians and health systems, embedding Mondo within everyday documentation supports meaningful improvements across the care continuum, including:

• Shorter time to diagnosis, driven by precise terminology aligned to a harmonized ontology that reflects current scientific and genetic understanding.
• Improved patient identification and cohorting, reducing false positives and minimizing manual chart review – benefits already demonstrated through early research collaborations using IMO Health's rare disease lexicals mapped to Mondo.
• Stronger support for treatment planning and trial matching, as clinicians document using familiar IMO Health terms while Mondo IDs work behind the scenes to unify and clarify rare disease definitions.

"Our research at Cincinnati Children's found that using IMO Health's terminology for rare disease patient identification in electronic health records identified 5.5 times more diseases and 20% more patients compared to standard ICD-10 coding systems. With the Mondo integration, coverage for rare genetic disease diagnoses will expand from 51% to 75% in Mondo while maintaining over 99% precision. These findings suggest that enhanced clinical terminologies can help healthcare systems identify rare disease patients more efficiently and accurately, potentially reducing diagnostic delays and improving outcomes," said Dr. Jing Chen, PhD, associate professor of pediatrics and biomedical informatics at the University of Cincinnati College of Medicine.

By expanding access to Mondo during Rare Disease Day, IMO Health reinforces its commitment to improving outcomes for patients and families navigating some of the most complex and underserved areas of medicine.

As rare disease data becomes consistently captured at the source, health systems and life sciences organizations gain access to a shared, computable understanding of disease that has historically been fragmented or invisible. This foundation supports more accurate cohort identification, trial feasibility analysis, and real-world evidence generation through more complete and precise patient journeys while preserving clinician efficiency and data integrity at the point of care.

By embedding rare disease knowledge directly into clinical workflows, IMO Health continues to build the clinical intelligence foundation required to improve care today and enable the next generation of healthcare analytics and AI. These advances bring visibility to an often-overlooked group of patients with substantial unmet need. By incorporating new precision into how these patients' data are captured in its foundational platform, IMO Health is unlocking new opportunities for research and insights into rare disease.

To learn more about IMO Health and our portfolio of solutions, visit www.imohealth.com/imo-portfolio/.

Media Contact: For media inquiries, please contact Michael Klozotsky, Chief Marketing Officer, at [email protected].

About IMO Health 

IMO Health is a clinical data intelligence business at the heart of a digital revolution in healthcare. Combining rich, highly specific clinical knowledge and artificial intelligence (AI), we expertly structure and operationalize clinical data to generate sharper insights and inform more intelligent decision-making.

Deeply embedded in the provider world, we developed a comprehensive intelligence layer that captures and encodes patient encounters with unmatched completeness and precision. Now, by weaving ethical and accountable AI into this robust content, we are improving how data is used across the healthcare landscape with powerful new applications in health tech, drug discovery, population health, and payer processes. 

SOURCE Intelligent Medical Objects, Inc.