The phrase "undiagnosed disease" means that someone is experiencing health problems, but doctors have not been able to figure out what specifically is causing those problems. Full definition
The CSL is currently participating in the NIH's Undiagnosed Disease Network as a sequencing core. (clinicallab.org)
Two women share their journey — from desperation to hope — as part of the NIH's undiagnosed diseases program (scientificamerican.com)
It is particularly useful when clinicians want to identify an illness or gene mutation involving a single patient or the patient and two or three other family members, which is the most common clinical situation for undiagnosed diseases. (sciencedaily.com)