Initial Rare Disease Selection for AI Diagnostics

Rare diseases selected as starting candidates for the multi-modal datasets needed to train AI diagnostic tools, each shown against the same six prioritisation criteria.

How this list was built

The six criteria, and how 3,079 diseases were chosen from 16,403

All 16,403 rare disease classes in the Mondo Disease Ontology were assessed against six prioritisation criteria. How each one was determined:

    Evidence is thin or absent for several of these, so the final selection of 3,079 diseases was made by consensus among the clinical and health-informatics experts on the team rather than by a score. Only 140 could be placed with confidence in the higher-prevalence band of roughly 10–50 per 100,000.