Which phenotype errors would change a rare disease ranking?
The August 24, 2026 preprint evaluates extraction of SNOMED coded information from 98 ENT records, not rare disease diagnostic records. Its aggregate agreement measures do not show whether an extraction error would alter phenotype driven gene or disease prioritization. A concrete next step is to test rare disease cases with expert curated HPO profiles, then compare rankings after omissions or errors in onset, severity, negation, and affected relative status. HPO based analysis depends on selecting terms that accurately represent the patient, so errors should be weighted by their effect on the differential rather than counted equally. Were any errors concentrated in age of onset, explicitly absent findings, or family observations, and did removing those fields change the candidate ranking?