First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case.

Abstract excerpt

Rare diseases (RDs) are conditions affecting fewer than 1 in 2,000 people, with over 7,000 identified, primarily genetic in nature, and more than half impacting children. Although each RD affects a small population, collectively, between 3.5% and 5.9% of the global population, or 262.9-446.2 million people, live with an RD. Most RDs lack established treatment protocols, highlighting the need for proper care...

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