Rare disease phenotyping often lacks the contextual detail clinicians rely on, making it difficult to translate real-world cases into structured, computable representations. This interactive, implementation-focused session will bring clinicians, curators, ontologists, and bioinformaticians together to explore how to pair structured features (i.e. HPO, Phenopackets, Mondo) with the clinical narratives that make it possible to understand rare disease cases.

Through a “Bring Your Own Disease” format, participants will work on real cases to define what a structured phenotype should contain, identify gaps in current ontologies and tools, and co-create templates that preserve disease trajectory, context, and nuance. The session will produce concrete outputs including example structured narratives, ontology mappings, and initial recommendations toward improved rare disease phenotyping.