Genetic Disorders

Specific Genetic Disorders

Many human diseases have a genetic component. 

Below you will find a list of selected genetic, orphan and rare diseases. This list is by no means comprehensive. 

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. 

Genetic or Rare Condition

Antiphospholipid Syndrome 
Autoimmune Lymphoproliferative Syndrome (ALPS) 
Breast cancer 
Charcot-Marie-Tooth 
Colon cancer 
Cystic fibrosis 
Dercum Disease 
Duane Syndrome 
Factor V Leiden Thrombophilia 
Familial Mediterranean Fever 
Guillain-Barre Syndrome 
Hemochromatosis 
Hidradenitis suppurativa 
Holoprosencephaly 
Huntington's disease 
Neurofibromatosis 
Parkinson's disease 
Poland Anomaly 
Progeria 
Prostate Cancer 
Retinitis Pigmentosa 
Severe Combined Immunodeficiency (SCID) 
Sickle cell disease 
Skin Cancer 
Tay-Sachs 
Thalassemia 
Trigeminal Neuralgia 
Trimethylaminuria 

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