Article

Developing a Specialized Dravet Syndrome Ontology for Rare Disease Informatics and AI Applications

2026-07-04

Abstract excerpt

Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy whose clinical and research representation requires integration of heterogeneous knowledge spanning seizures, development, behavior, SUDEP/autonomic risk, genetics, comorbidities, electrophysiology, pharmacology, and drug responsiveness. We report the development of a DS-focused ontology created by expert-guided specialization of a previou...

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Literature Corpus work: 84d6c776-a69f-5b35-99fe-00d84379554c
DOI: 10.64898/2026.07.01.26357055

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