Specific Genetic Disorders

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:

• Learning About an Undiagnosed Condition in a Child
• Learning About an Undiagnosed Condition in an Adult

Genetic or Rare Condition Web Feed | What's this? NHGRI Conducts Basic Research NHGRI Conducts Clinical Research Achondroplasia Alpha-1 Antitrypsin Deficiency Antiphospholipid Syndrome Autism Autoimmune Lymphoproliferative Syndrome (ALPS) Autosomal Dominant Polycystic Kidney Disease Breast cancer Charcot-Marie-Tooth   Colon cancer   Cri du chat Crohn's Disease Cystic fibrosis Dercum Disease     Down Syndrome   Duane Syndrome     Duchenne Muscular Dystrophy   Factor V Leiden Thrombophilia   Familial Hypercholesterolemia Familial Mediterranean Fever   Fragile X Syndrome     Gaucher Disease Hemochromatosis     Hemophilia     Holoprosencephaly   Huntington's disease   Klinefelter syndrome   Marfan syndrome   Myotonic Dystrophy   Neurofibromatosis   Noonan Syndrome   Osteogenesis imperfecta Parkinson's disease Phenylketonuria Poland Anomaly     Porphyria     Progeria   Prostate Cancer Retinitis Pigmentosa   Severe Combined Immunodeficiency (SCID) Sickle cell disease     Skin Cancer   Spinal Muscular Atrophy Tay-Sachs     Thalassemia     Trimethylaminuria     Turner Syndrome     Velocardiofacial Syndrome   WAGR Syndrome

If a condition is not listed above, other resources of information can be found at: Online Health Resources.

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Last Updated: February 21, 2008