| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10832507 | Molecular Genetics and Metabolism | 2016 | 8 Pages |
Abstract
The UDP provides examples of the benefits expected to accrue with the recent launch of a national Undiagnosed Diseases Network (UDN). The UDN should accelerate rare disease diagnosis and new disease discovery, enhance the likelihood of diagnosing known diseases in patients with uncommon phenotypes, improve management strategies, and advance medical research.
Keywords
UDPNIHFGF23DEXAOMIMPPIGALNT3IgMIgGACDCUDNNHGRIHpoALPAlkaline phosphataseMRIimmunoglobulin Aimmunoglobulin GIgAimmunoglobulin MInterdisciplinary researchMagnetic resonance imagingExome sequencingdual-energy X-ray absorptiometryfibroblast growth factor 23inorganic phosphateNational Institutes of HealthNational Human Genome Research InstituteHuman Phenotype OntologyPrecision medicineSingle nucleotide polymorphismPyrophosphateSNP
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Authors
William A. Gahl, John J. Mulvihill, Camilo Toro, Thomas C. Markello, Anastasia L. Wise, Rachel B. Ramoni, David R. Adams, Cynthia J. Tifft, for Members of the UDN for Members of the UDN,