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Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Genetic Disorders …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… cirrhosis, acute liver failure or other serious liver disorders, a liver transplant may be the only option for … Gene Tests Genetic Alliance National Organization for Rare Disorders Finding Reliable Health Information Online … Genetic Disorders …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… Association - Cholesterol National Organization for Rare Disorders Online Mendelian Inheritance in Man eMedicine … Genetic Disorders …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's … Genetic Disorders …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… or SCID, is a term applied to a group of inherited disorders characterized by defects in both T and B cell … Genetic Disorders …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Genetic Disorders …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Genetic Disorders …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Genetic Disorders …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… Genetic Disorders …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced … at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced … at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced …