"Undiagnosed diseases are defined as constellations of findings that remain refractory to medical diagnostic approaches. Undiagnosed diseases affect approximately 30 million Americans and include (a) rare diseases that are difficult to identify, (b) atypical presentations of known disorders, and (c) yet to be described diseases ... Undiagnosed diseases typically manifest with objective findings, which are clinically measurable on physical examination or through medical testing and these provide tangible targets for further diagnostic approaches (e.g. dysmorphic facies, abnormal biochemical profiles, physical exam demonstrating weakness or abnormal gait). Approximately 80% of rare and undiagnosed disorders have a genetic basis ..."
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Nicole M. Walley et al.:
https://en.wikiquote.org/wiki/Undiagnosed_Diseases_Network
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Undiagnosed Diseases Network
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