NHGRI logo

Genetic, Rare and Orphan Disease Resources Online

  • Genetic Testing Registry
    A central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease. Developed and hosted by the National Center for Biotechnology Information (NCBI) of the National Library of Medicine (NLM).
  • Genes and Disease
    Information about disorders caused by a single gene. Diseases are categorized by functional disorder (e.g., immune system, nervous system, metabolic disorders). Hosted by NCBI.
  • Genetics and Rare Conditions Site
    Alphabetical index of genetic disorders with links to disease-related associations, support groups, foundations, online discussion groups and listservs. Hosted by the University of Kansas Medical Center.
  • Genetics Home Reference - National Library of Medicine
    Consumer information about genetic conditions and the genes responsible for those conditions

Last updated: November 03, 2014