Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI).
Below you will find a list of selected genetic, orphan and rare diseases. This list is by no means comprehensive. If the condition you are looking for is not listed below, you might be able to find other resources of information in our listing of other Web sites, Online Health Resources.
Sometimes, physicians are unable to put a name to a genetic condition. When this happens, physicians will say that a child or an adult has an undiagnosed rare or genetic condition. To learn more about how to deal with genetic or rare conditions that have no diagnosis, see:
|Genetic or Rare Condition||NHGRI Conducts
|Alpha-1 Antitrypsin Deficiency|
|Autosomal Dominant Polycystic Kidney Disease|
|Cri du chat|
|Duchenne Muscular Dystrophy|
|Factor V Leiden Thrombophilia|
|Familial Mediterranean Fever|
|Fragile X Syndrome|
|Severe Combined Immunodeficiency (SCID)|
|Sickle cell disease|
|Spinal Muscular Atrophy|
If a condition is not listed above, other resources of information can be found at: Online Health Resources.
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Last Reviewed: September 26, 2011