The NIH Undiagnosed Diseases Program (UDP)

Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program (UDP) pursues two goals:

  • To provide answers to patients with mysterious conditions that have long eluded diagnosis
  • To advance medical knowledge about rare and common diseases

The program is trans-NIH in scope. It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. Many medical specialties from other NIH research centers and institutes contribute expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics, which are represented among the dozens of participating senior attending physicians who participate in the program's clinical research.

  • External identifier:
  • By study:

  • Privacy level:

  • Referrer:
  • By collaborator
  • Last author:
  • Creation date:
  • Last modification date:
  • Date of birth of the patient:
  • Clinical diagnosis:
    • Filter records presenting of the selected diagnoses.
  • Final diagnosis:
    • Filter records presenting of the selected diagnoses.
  • Phenotype:
    • Filter records presenting of the selected phenotypes.
    • Filter records that match the selected phenotypes .
  • Gene:
    • Filter records with the selected genes specified as or genes.
per page of Page
Creation date Reported by Last modified by Owner
The environment prevents the table from loading data.