Unverified50% confidenceFactExact time
Real patient images are extremely unevenly distributed across hundreds of diseases: a common syndrome may have hundreds of images, while a rare disease may have only a handful of cases.
1
Sources
50%
Confidence
Long-term
Relevance
10/19/2026
First Seen
Sources
Related Entities
Related Claims
UnverifiedThere are approximately 300 million rare disease patients worldwide, of whom about 80% are caused by genetic factors, yet currently fewer than half can obtain a definitive molecular diagnosis.64% similarUnverifiedRare disease patients require an average of 7 years and consultations with 8 physicians before receiving a diagnosis, and 50–70% of variants are variants of uncertain significance (VUS).61% similarUnverifiedStructural metrics identified many rare entities that popularity metrics entirely fail to capture.60% similarUnverifiedAmong the 1,285 reports: 877 duplicates, 319 not applicable, 57 valid, and 32 informational; among the valid findings, 1 critical, 5 high, 9 medium, 42 low, and 32 informational findings were verified.60% similar
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