Epilepsy Disease Classification: A Community Effort to Enhance the Mondo Disease Ontology

Featuring the work of CURE Epilepsy’s Dr. Elaine O’Loughlin 

Epilepsy is a heterogeneous neurological disorder affecting approximately 51.7 million individuals worldwide, with rare epilepsies posing significant diagnostic and therapeutic challenges. These conditions, including developmental and epileptic encephalopathies (DEEs), are often associated with early onset, complex comorbidities, and drug resistance, necessitating precise classification and individualized care. However, existing epilepsy terminologies and ontologies remain fragmented, leading to inconsistencies in disease representation across clinical and research settings.

The Mondo Disease Ontology provides a unified, interoperable framework that integrates multiple disease classification systems to standardize epilepsy-related concepts. In collaboration with domain experts including Dr. Elaine O’Loughlin from CURE Epilepsy and guided by the classification framework of the International League Against Epilepsy (ILAE), epilepsy terminology was reviewed and refined. This effort resulted in the addition of new terms, reclassification of existing concepts, refinement of epilepsy types and etiologies, and improved modeling of epilepsy syndromes and genetic epilepsies.

Key updates include the incorporation of previously missing epilepsy types, clarification of diagnostic categories for uncertain or evolving cases, and restructuring of DEEs to better reflect genetic and non-genetic etiologies. The work also addressed challenges in distinguishing diseases from phenotypes and improved alignment with age-specific and syndromic classifications.

These enhancements support data harmonization, clinical decision-making, and computational analyses, including drug repurposing and genotype–phenotype studies. By aligning with current clinical standards and enabling interoperability across biomedical resources, this work advances the representation of epilepsy in ontologies and supports progress toward precision medicine and improved patient outcomes.

Learn More