Search Results
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Genetic Disorders …
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
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
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… 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
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 …