Unverified50% confidenceFactExact time
Rare diseases generally refer to diseases with a prevalence below a certain threshold (e.g., the EU definition of fewer than 5 cases per 10,000 people); about 7,000 are known worldwide, most lack effective treatment, and the diagnostic period is long.
1
Sources
50%
Confidence
Long-term
Relevance
10/27/2026
First Seen
Sources
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Related Claims
UnverifiedRare 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).76% similarUnverifiedThere 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.70% similarUnverifiedReal 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.66% similarUnverifiedIn the rare disease detection example, if the incidence rate is 0.1% and the false positive rate is 5%, the actual probability of having the disease given a positive test result is approximately 2%.62% similar
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