Clinical decision support
Accuracy-first rare-disease assist: compare a shallow keyword baseline against an improved domain lexicon + phenotype feature ranker. Gold labels appear only after scoring, for evaluation.
Cases
Demo suite top-1: 100% improved vs 80% baseline (5 cases).
14-year-old with ≥6 cafe-au-lait macules >5mm, axillary freckling, and a first-degree relative with similar findings. Learning difficulties noted in school. No Lisch nodules documented yet. MRI pending for possible optic pathway glioma surveillance.