Specific Genetic Disorders

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


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:

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

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