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 check  
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