Fabry Disease is a rare X-linked recessive lysosomal storage disorder.
Facioscapulohumeral Muscular Dystrophy is a form of muscular dystrophy that initially affects the skeletal muscles of the face, scapula and upper arms.
Factor II Deficiency is a rare blood clotting disorder due to the lack of a prothrombin needed for blood to clot.
Factor V Deficiency is a rare inherited disorder that affects the body's ability to clot the blood.
Fahr’s Syndrome is a rare, genetic neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Familial Adenomatous Polyposis is a rare condition in which polyps form in the epithelium of the large intestine.
Familial Alzheimer's disease is a type of Alzheimer's disease caused by a genetic predisposition.
Familial Breast Cancer can be attributed to 5% of all breast cancer cases. Typically, the genetic mutations are found on the BRCA1 and BRCA2 genes.
Familial Cold Autoinflammatory Syndrome is a rare inflammatory disorder characterized by fever, rash and arthralgia after generalized exposure to cold temperatures.
Familial Exudative Vitreoretinopathy is a rare retina disease characterized by lack of blood vessels in the peripheral retina.
Familial isolated dilated cardiomyopathy (FDC) is a rare inherited disorder which causes heart muscle abnormalities. This condition occurs in infants and children, however, the symptom...
Familial Mediterranean Fever is a rare genetic autoinflammatory disease caused by mutations in the MEFV gene.
Fanconi Anemia is a rare genetic disease characterized by short stature, increased incidence of solid tumors and leukemias, and bone marrow failure (aplastic anemia).
Fanconi Syndrome is a disorder in which the function of the kidney is impaired.
FG syndrome is a rare genetic disorder linked to the X chromosome which causes physical anomalies and developmental delays.
Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling musculoskeletal condition that most often arises as a result of a spontaneous new mutation. Once present, the disease i...
Fibromuscular Dysplasia is a rare disorder characterized by abnormal developments or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge.
Fibromyalgia is a disorder characterized by the core symptoms of chronic widespread pain, tenderness, fatigue, sleep disturbance, and cognitive disturbance. The severity of each differs between ...
Fibrous Dysplasia of Bone is a rare disorder causing bone thinning and growths or lesions in the bones. This along with Endocrine abnormalities, is Mccune Albright Syndrome, which is even less comm...
FATCO syndrome is a rare malformation of the lower limbs in newborns. It involves fibular hemimelia, tibial campomelia, and lower limb oligosyndactyly in the lateral rays. Tibia and fibula are t...
Fitz-Hugh-Curtis Syndrome is a rare complication of pelvic inflammatory disease, a general term for infection of the upper genital tract in women.
Focal Dystonia is a rare neurological condition affecting a single or multiple muscles causing muscular contraction or twisting.
Fragile X Associated Tremor/Ataxia Syndrome is a rare neurdegenerative disorder.
Fragile X syndrome is a genetic disorder that can lead to developmental problems that can include behavioral challenges and impairment in intellectual abilities. Int...
Fraser syndrome is an autosomal recessive disorder that occurs due to the abnormal prenatal development of some organs. In recessive disorders, both parents must carry and pass on a defective ge...
Freeman-Sheldon syndrome is a rare genetic disorder that is usually inherited in an autosomal dominant pattern. It typically affects the face, hands, and feet. ...
Friedreich's Ataxia is rare inherited genetic disorder characterized by progressive damage to the nervous system.
Frontotemporal dementia is a general term that covers a group of disorders that are characterized by the shrinkage (atrophy) of the frontal and the tempora...
Fructose malabsorption is a digestive disorder of the small intestine in which the fructose carrier in enterocytes is deficient.
Hommes, et al., defines FDPase deficiency as "a rare, presumably autosomal recessive disorder of gluconeogenesis. ... Clinical hallmarks of this disorder are hyperventilation, irritability, ketoaci...